AdvancedAnalysisFileParser 0.1.0__py3-none-any.whl
This diff represents the content of publicly available package versions that have been released to one of the supported registries. The information contained in this diff is provided for informational purposes only and reflects changes between package versions as they appear in their respective public registries.
- AdvancedAnalysisFileParser/AdvancedAnalysisConstants.py +9 -0
- AdvancedAnalysisFileParser/AdvancedAnalysisParser.py +129 -0
- AdvancedAnalysisFileParser/Models/ConditionOperator.py +9 -0
- AdvancedAnalysisFileParser/Models/FieldCondition.py +29 -0
- AdvancedAnalysisFileParser/Models/FieldWarningConfig.py +4 -0
- AdvancedAnalysisFileParser/Models/JsonDict.py +2 -0
- AdvancedAnalysisFileParser/Models/SectionConfig.py +8 -0
- AdvancedAnalysisFileParser/Models/__init__.py +13 -0
- AdvancedAnalysisFileParser/Parsers/AdvancedAnalysisFileParserFactory.py +36 -0
- AdvancedAnalysisFileParser/Parsers/DragenTruSightOncology500TSVParser.py +102 -0
- AdvancedAnalysisFileParser/Parsers/IAdvancedAnalysisFileParser.py +86 -0
- AdvancedAnalysisFileParser/Parsers/JsonSectionParser.py +39 -0
- AdvancedAnalysisFileParser/Parsers/OneLineTsvParser.py +26 -0
- AdvancedAnalysisFileParser/Parsers/__init__.py +7 -0
- AdvancedAnalysisFileParser/README.md +570 -0
- AdvancedAnalysisFileParser/Test/TruSightOncology500.CombinedVariantOutput.tsv +1586 -0
- AdvancedAnalysisFileParser/Test/dragen424.targeted.json +202 -0
- AdvancedAnalysisFileParser/Test/dummy_gba_affected_nonrecomb_acn2.targeted.json +21 -0
- AdvancedAnalysisFileParser/Test/dummy_gba_carrier_one_recomb_only.targeted.json +14 -0
- AdvancedAnalysisFileParser/Test/dummy_gba_phase_unknown_one_recomb_plus_variant.targeted.json +21 -0
- AdvancedAnalysisFileParser/Test/dummy_warnset_1.targeted.json +132 -0
- AdvancedAnalysisFileParser/Test/dummy_warnset_2.targeted.json +145 -0
- AdvancedAnalysisFileParser/Test/dummy_warnset_3.targeted.json +146 -0
- AdvancedAnalysisFileParser/Test/gba.tsv +2 -0
- AdvancedAnalysisFileParser/Test/gba_carrier_1.json +96 -0
- AdvancedAnalysisFileParser/Test/gba_carrier_2.json +101 -0
- AdvancedAnalysisFileParser/Test/gba_multiple_phase_unknown_1.json +101 -0
- AdvancedAnalysisFileParser/Test/gba_multiple_phase_unknown_2.json +105 -0
- AdvancedAnalysisFileParser/Test/gba_positive_1.json +96 -0
- AdvancedAnalysisFileParser/Test/gba_positive_2.json +101 -0
- AdvancedAnalysisFileParser/Test/hba_carrier_1.json +96 -0
- AdvancedAnalysisFileParser/Test/hba_carrier_2.json +96 -0
- AdvancedAnalysisFileParser/Test/hba_carrier_3.json +96 -0
- AdvancedAnalysisFileParser/Test/hba_carrier_4.json +96 -0
- AdvancedAnalysisFileParser/Test/hba_hemoglobin_h_disease.json +96 -0
- AdvancedAnalysisFileParser/Test/hba_silent_carrier.json +96 -0
- AdvancedAnalysisFileParser/Test/smn.tsv +2 -0
- AdvancedAnalysisFileParser/Test/smn_carrier.json +96 -0
- AdvancedAnalysisFileParser/Test/smn_positive.json +96 -0
- AdvancedAnalysisFileParser/Test/smn_silent_carrier_risk.json +101 -0
- AdvancedAnalysisFileParser/Test_AdvancedAnalysisParser.py +342 -0
- AdvancedAnalysisFileParser/Warnings/CarrierPositiveWarning.py +18 -0
- AdvancedAnalysisFileParser/Warnings/ConditionWarning.py +20 -0
- AdvancedAnalysisFileParser/Warnings/GbaWarning.py +50 -0
- AdvancedAnalysisFileParser/Warnings/GenotypeWarning.py +22 -0
- AdvancedAnalysisFileParser/Warnings/IWarning.py +7 -0
- AdvancedAnalysisFileParser/Warnings/SmnWarning.py +29 -0
- AdvancedAnalysisFileParser/Warnings/WarningFactory.py +31 -0
- AdvancedAnalysisFileParser/Warnings/__init__.py +7 -0
- AdvancedAnalysisFileParser/__init__.py +18 -0
- AdvancedAnalysisFileParser/advConfig.json +96 -0
- AdvancedAnalysisFileParser/dragen_500_tsv_config.json +53 -0
- AdvancedAnalysisFileParser/gba_tsv_config.json +23 -0
- AdvancedAnalysisFileParser/run_test_parser.py +29 -0
- AdvancedAnalysisFileParser/smn_tsv_config.json +23 -0
- advancedanalysisfileparser-0.1.0.dist-info/METADATA +152 -0
- advancedanalysisfileparser-0.1.0.dist-info/RECORD +60 -0
- advancedanalysisfileparser-0.1.0.dist-info/WHEEL +5 -0
- advancedanalysisfileparser-0.1.0.dist-info/licenses/LICENSE +9 -0
- advancedanalysisfileparser-0.1.0.dist-info/top_level.txt +1 -0
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@@ -0,0 +1,1586 @@
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1
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DRAGEN TruSight Oncology 500 Analysis Software - Combined Variant Output
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For Research Use Only. Not for use in diagnostic procedures.
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TUMOR FRACTION, PLOIDY, ABSOLUTE COPY NUMBER AND LOSS OF HETEROZYGOSITY ARE BETA FEATURES. REFER TO USER GUIDE FOR DETAILS.
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4
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[Analysis Details]
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Pair ID sample_ID
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DNA Sample ID sample_ID
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8
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RNA Sample ID NA
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9
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Output Date 2024-11-30
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Output Time 14:37:52
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11
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Module Version 2.5.2
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Pipeline Version 2.5.2.1
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14
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[Sequencing Run Details]
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Run Name 241129_A00383_0763_AHLGWJDRX5
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16
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Run Date 2024-11-29
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17
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DNA Sample Index ID UDP0056
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RNA Sample Index ID NA
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19
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Instrument ID A00383
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Instrument Control Software Version 1.8.1
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Instrument Type NovaSeq6000
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RTA Version v3.4.4
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Sample Feature HRD
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24
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SBS Reagent Cartridge Lot Number 20872635
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Cluster Reagent Cartridge Lot Number 20874795
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26
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[TMB]
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Total TMB 11.8
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29
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Coding Region Size in Megabases 1.27
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Number of Passing Eligible Variants 15
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31
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32
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[MSI]
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33
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Usable MSI Sites 125
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34
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Total MSI Sites Unstable 3
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35
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Percent Unstable MSI Sites 2.40
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TUMOR FRACTION AND PLOIDY ARE BETA FEATURES. REFER TO USER GUIDE FOR DETAILS.
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[GIS]
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Genomic Instability Score 74
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40
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Tumor Fraction 0.220
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41
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Ploidy 4.46
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42
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43
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ABSOLUTE COPY NUMBER IS A BETA FEATURE. REFER TO USER GUIDE FOR DETAILS.
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[Copy Number Variants]
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Gene Fold Change Copy Number Variant Absolute Copy Number
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46
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ALK 1.442 <DUP> 6
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47
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BCL2L11 1.455 <DUP> 6
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48
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+
RAF1 1.578 <DUP> 12
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49
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+
MLH1 1.648 <DUP> 11
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50
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+
MYD88 1.555 <DUP> 11
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51
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+
PRKCI 1.765 <DUP> 13
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52
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+
KEL 1.458 <DUP> 6
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53
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+
ZNF703 0.616 <DEL> 4
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54
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+
PREX2 1.710 <DUP> 12
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55
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+
TCEB1 1.568 <DUP> 12
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56
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+
RAD21 1.615 <DUP> 10
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57
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+
GATA3 1.681 <DUP> NA
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58
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+
NKX2-1 2.283 <DUP> 11
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59
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+
FOXA1 1.854 <DUP> 11
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60
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+
IGF1R 1.532 <DUP> 10
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61
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+
RAD51C 0.444 <DEL> 4
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62
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+
RPTOR 1.486 <DUP> 9
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63
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+
CEBPA 0.551 <DEL> 5
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64
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+
TFE3 1.458 <DUP> NA
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65
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+
SMC1A 1.479 <DUP> NA
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66
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+
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67
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+
ABSOLUTE COPY NUMBER AND LOSS OF HETEROZYGOSITY ARE BETA FEATURES. REFER TO USER GUIDE FOR DETAILS.
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[Loss of Heterozygosity]
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69
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+
Gene Absolute Copy Number Minor Copy Number
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70
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+
H3F3A 4 0
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71
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+
PARP1 4 0
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72
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+
HIST3H3 4 0
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73
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+
FH 4 0
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74
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+
AKT3 4 0
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75
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+
TET1 1 0
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76
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+
PTEN 1 0
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77
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+
FAS 1 0
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78
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+
FGF8 3 0
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79
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+
SUFU 3 0
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80
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+
SMC3 5 0
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81
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+
TCF7L2 3 0
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82
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+
FGFR2 3 0
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83
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+
HRAS 3 0
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84
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+
IGF2 3 0
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85
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+
LMO1 3 0
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86
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+
MYOD1 3 0
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87
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+
FANCF 3 0
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88
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+
TBX3 3 0
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89
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+
RAB35 3 0
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90
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+
HNF1A 3 0
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91
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+
POLE 3 0
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92
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+
BRCA2 2 0
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93
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+
DIS3 7 0
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94
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+
FGF14 3 0
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95
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+
ERCC5 3 0
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96
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+
IRS2 3 0
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97
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+
LAMP1 3 0
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98
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+
MAX 1 0
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99
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+
RAD51B 1 0
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100
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+
TSHR 5 0
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101
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+
DICER1 5 0
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102
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+
HSP90AA1 5 0
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103
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+
AKT1 5 0
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104
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+
GREM1 3 0
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105
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+
NUTM1 3 0
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106
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+
RAD51 3 0
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107
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+
MGA 3 0
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108
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+
B2M 3 0
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109
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+
FGF7 3 0
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110
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+
MAP2K1 3 0
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111
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+
SMAD3 3 0
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112
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+
CD276 3 0
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113
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+
NTRK3 3 0
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114
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+
FANCI 3 0
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115
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+
IDH2 3 0
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116
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+
BLM 3 0
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117
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+
NUP93 1 0
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118
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+
CBFB 1 0
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119
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+
CTCF 1 0
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120
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+
CDH1 1 0
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121
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+
ZFHX3 5 0
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122
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+
PLCG2 5 0
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123
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+
ANKRD11 5 0
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124
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+
FANCA 5 0
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125
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+
GPS2 3 0
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126
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+
TP53 3 0
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127
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+
ALOX12B 3 0
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128
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+
AURKB 3 0
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129
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+
MAP2K4 3 0
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130
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+
NCOR1 3 0
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131
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+
FLCN 3 0
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132
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+
GID4 3 0
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133
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+
NF1 3 0
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134
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+
SUZ12 3 0
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135
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+
RAD51D 3 0
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136
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+
CDK12 3 0
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137
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+
ERBB2 3 0
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138
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+
RARA 3 0
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139
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+
TOP2A 3 0
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140
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+
STAT5B 3 0
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141
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+
STAT5A 3 0
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142
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+
STAT3 3 0
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143
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+
BRCA1 3 0
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144
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+
ETV4 3 0
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145
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+
MAP3K14 3 0
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146
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+
HOXB13 4 0
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147
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+
SPOP 4 0
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148
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+
RNF43 4 0
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149
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+
RAD51C 4 0
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150
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+
RPS6KB1 4 0
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151
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+
PPM1D 4 0
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152
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+
BRIP1 4 0
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153
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+
CD79B 4 0
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154
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+
GNA13 4 0
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155
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+
AXIN2 4 0
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156
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+
PRKAR1A 4 0
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157
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+
SOX9 6 0
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158
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+
H3F3B 6 0
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159
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+
SRSF2 6 0
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160
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+
RPTOR 9 0
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161
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+
YES1 3 0
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162
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+
SMAD2 3 0
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163
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+
SMAD4 3 0
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164
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+
MALT1 3 0
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165
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+
PMAIP1 3 0
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166
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+
BCL2 3 0
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167
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+
GNA11 3 0
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168
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+
ZBTB7A 3 0
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169
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+
MAP2K2 3 0
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170
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+
PTPRS 3 0
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171
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+
INSR 3 0
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172
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+
PPP2R1A 3 0
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173
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+
ERCC3 6 0
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174
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+
CXCR4 6 0
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175
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+
LRP1B 6 0
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176
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+
ACVR1 6 0
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177
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+
PDK1 6 0
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178
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+
NFE2L2 6 0
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179
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+
STAT4 3 0
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180
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+
SF3B1 3 0
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181
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+
CASP8 3 0
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182
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+
CTLA4 3 0
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183
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+
IDH1 3 0
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184
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+
ERBB4 3 0
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185
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+
BARD1 3 0
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186
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+
INHA 4 0
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187
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+
PAX3 4 0
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188
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+
CUL3 4 0
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189
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+
IRS1 4 0
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190
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+
PDCD1 4 0
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191
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+
CRKL 3 0
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192
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+
LZTR1 3 0
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193
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+
MAPK1 3 0
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194
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+
BCR 3 0
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195
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+
SMARCB1 3 0
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196
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+
CHEK2 3 0
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197
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+
EWSR1 3 0
|
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198
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+
NF2 3 0
|
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199
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+
SOX10 3 0
|
|
200
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+
EP300 3 0
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201
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+
FANCD2 8 0
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|
202
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+
VHL 8 0
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203
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+
TP63 2 0
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204
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+
TFRC 2 0
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205
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+
FGF5 3 0
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|
206
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+
IRF2 3 0
|
|
207
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+
FAT1 3 0
|
|
208
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+
MAP3K1 1 0
|
|
209
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+
PLK2 1 0
|
|
210
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+
PIK3R1 1 0
|
|
211
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+
MSH3 1 0
|
|
212
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+
RASA1 1 0
|
|
213
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+
APC 1 0
|
|
214
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+
SNCAIP 1 0
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215
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+
GABRA6 1 0
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216
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+
NPM1 3 0
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217
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+
FGFR4 3 0
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|
218
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+
NSD1 3 0
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219
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+
DDX41 3 0
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220
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+
FLT4 3 0
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221
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+
ZBTB2 3 0
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222
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+
ESR1 3 0
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223
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+
CARD11 5 0
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224
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+
PMS2 5 0
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225
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+
RAC1 5 0
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226
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+
ETV1 4 0
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227
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+
INHBA 3 0
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228
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+
IKZF1 3 0
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229
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+
EGFR 3 0
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230
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+
NBN 7 0
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231
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+
RUNX1T1 7 0
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232
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+
JAK2 6 0
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233
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+
CD274 6 0
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234
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+
PDCD1LG2 6 0
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|
235
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+
PTPRD 6 0
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|
236
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+
MLLT3 6 0
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237
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+
CDKN2A 6 0
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238
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+
CDKN2B 6 0
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239
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+
FANCG 6 0
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240
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+
PAX5 6 0
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241
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+
HNRNPK 3 0
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242
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+
NTRK2 3 0
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243
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+
TGFBR1 3 0
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244
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+
KLF4 3 0
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245
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+
PPP6C 4 0
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246
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+
ABL1 7 0
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247
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+
TSC1 7 0
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248
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+
NOTCH1 7 0
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249
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EGFL7 7 0
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250
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TRAF2 7 0
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251
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252
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[Splice Variants]
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253
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Gene Affected Exon Breakpoint 1 Breakpoint 2 Splice Supporting Reads Reference Reads Transcript
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NA
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255
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256
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[Fusions]
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257
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Gene Pair Breakpoint 1 Breakpoint 2 Fusion Supporting Reads Gene 1 Reference Reads Gene 2 Reference Reads
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NA
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259
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260
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[Exon-Level CNVs]
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261
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Gene Chromosome Start Stop Affected Exon(s) Fold Change CNV Type
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262
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BRCA1 NA
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263
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BRCA2 NA
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264
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265
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[Small Variants]
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266
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Gene Chromosome Genomic Position Reference Call Alternative Call Allele Frequency Depth P-Dot Notation C-Dot Notation Consequence(s) Affected Exon(s)
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267
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TNFRSF14 chr1 2488153 A G 1.0000 140 NP_003811.2:p.(Lys17Arg) NM_003820.4:c.50A>G missense_variant 1/8
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268
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chr1 4367323 G A 0.4158 291
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269
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ERRFI1 chr1 8085030 C T 0.5479 219 NM_018948.4:c.-74+1188G>A intron_variant
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270
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MTOR chr1 11205058 C T 1.0000 234 NM_004958.4:c.4731G>A(p.(Ala1577=)) NM_004958.4:c.4731G>A synonymous_variant 33/58
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271
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MTOR chr1 11288758 G A 1.0000 250 NM_004958.4:c.2997C>T(p.(Asn999=)) NM_004958.4:c.2997C>T synonymous_variant 19/58
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272
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MTOR chr1 11301714 A G 1.0000 252 NM_004958.4:c.1437T>C(p.(Asp479=)) NM_004958.4:c.1437T>C synonymous_variant 10/58
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273
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SPEN chr1 16256007 T C 1.0000 244 NP_055816.2:p.(Leu1091Pro) NM_015001.3:c.3272T>C missense_variant 11/15
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274
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SPEN chr1 16259813 A G 0.9927 273 NP_055816.2:p.(Asn2360Asp) NM_015001.3:c.7078A>G missense_variant 11/15
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275
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SDHB chr1 17354297 A G 0.4350 200 NP_002991.2:p.(Ser163Pro) NM_003000.3:c.487T>C missense_variant 5/8
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276
|
+
PAX7 chr1 18957546 G A 0.3943 246 NM_001135254.2:c.-552G>A 5_prime_UTR_variant 1/9
|
|
277
|
+
PAX7 chr1 19027239 A G 0.4142 169 NM_001135254.2:c.879A>G(p.(Pro293=)) NM_001135254.2:c.879A>G synonymous_variant 6/9
|
|
278
|
+
PAX7 chr1 19071752 T C 0.5587 213 NM_001135254.2:c.*329T>C 3_prime_UTR_variant 9/9
|
|
279
|
+
PAX7 chr1 19072926 A G 0.5390 295 NM_001135254.2:c.*1503A>G 3_prime_UTR_variant 9/9
|
|
280
|
+
PAX7 chr1 19075225 A G 0.6079 278 NM_001135254.2:c.*3802A>G 3_prime_UTR_variant 9/9
|
|
281
|
+
ID3 chr1 23881005 G A 0.4190 105 downstream_gene_variant
|
|
282
|
+
ID3 chr1 23885498 T C 0.5030 169 NP_002158.3:p.(Thr105Ala) NM_002167.5:c.313A>G missense_variant 2/3
|
|
283
|
+
STK40 chr1 36807481 C T 0.4259 162 NP_001269476.1:p.(Ala395Thr) NM_001282547.2:c.1183G>A missense_variant 11/11
|
|
284
|
+
CSF3R chr1 36937059 A G 1.0000 191 NM_000760.4:c.1260T>C(p.(Thr420=)) NM_000760.4:c.1260T>C synonymous_variant 10/17
|
|
285
|
+
CSF3R chr1 36937059 AGTGGGA GGTGGGG 0.4787 188 NM_000760.4:c.1254_1260delinsCCCCACC(p.(Arg418=)) NM_000760.4:c.1254_1260delinsCCCCACC synonymous_variant 10/17
|
|
286
|
+
CSF3R chr1 36937065 A G 0.4787 188 NM_000760.4:c.1254T>C(p.(Arg418=)) NM_000760.4:c.1254T>C synonymous_variant 10/17
|
|
287
|
+
MYCL chr1 40363054 G C 1.0000 162 NP_001028253.1:p.(Thr362Ser) NM_001033081.3:c.1085C>G missense_variant 2/2
|
|
288
|
+
MYCL chr1 40366767 C G 0.5225 111 NP_001028253.1:p.(Ala114Pro) NM_001033081.3:c.340G>C missense_variant 1/2
|
|
289
|
+
MUTYH chr1 45797505 C G 0.6398 261 NP_001041639.1:p.(Gln310His) NM_001048174.2:c.930G>C missense_variant 12/16
|
|
290
|
+
MUTYH chr1 45805566 G C 1.0000 101 NM_001048174.2:c.-7+5C>G splice_region_variant:intron_variant
|
|
291
|
+
PIK3R3 chr1 46521517 G A 0.3715 288 NM_003629.4:c.891C>T(p.(Ser297=)) NM_003629.4:c.891C>T synonymous_variant 7/10
|
|
292
|
+
PIK3R3 chr1 46521559 A T 0.4176 261 NP_003620.3:p.(Asn283Lys) NM_003629.4:c.849T>A missense_variant 7/10
|
|
293
|
+
CDKN2C chr1 51437902 G A 1.0000 282 NM_078626.3:c.130-1663G>A intron_variant
|
|
294
|
+
chr1 54718191 CGGGACAGGTGGCCACTAGGAGA C 1.0000 117
|
|
295
|
+
JAK1 chr1 65303659 C T 0.4780 295 NM_002227.4:c.3096G>A(p.(Lys1032=)) NM_002227.4:c.3096G>A synonymous_variant 22/25
|
|
296
|
+
JAK1 chr1 65310489 T C 0.4326 215 NM_002227.4:c.2199A>G(p.(Pro733=)) NM_002227.4:c.2199A>G synonymous_variant 16/25
|
|
297
|
+
JAK1 chr1 65321388 G A 0.4388 196 NM_002227.4:c.1459-7C>T splice_region_variant:intron_variant
|
|
298
|
+
JAK1 chr1 65335062 A G 0.4821 224 NM_002227.4:c.579T>C(p.(Ala193=)) NM_002227.4:c.579T>C synonymous_variant 6/25
|
|
299
|
+
NEGR1 chr1 72058552 G A 1.0000 252 NM_173808.3:c.888C>T(p.(Thr296=)) NM_173808.3:c.888C>T synonymous_variant 6/7
|
|
300
|
+
NRAS chr1 115245174 G A 0.5691 311 downstream_gene_variant
|
|
301
|
+
NRAS chr1 115251475 G A 0.6061 231 NM_002524.5:c.451-200C>T intron_variant
|
|
302
|
+
NRAS chr1 115254028 G A 0.5000 56 NM_002524.5:c.291-1679C>T intron_variant
|
|
303
|
+
NRAS chr1 115257363 A G 0.5156 226 NM_002524.5:c.112-764T>C intron_variant
|
|
304
|
+
NRAS chr1 115257521 C T 0.9960 249 NM_002524.5:c.112-922G>A intron_variant
|
|
305
|
+
VTCN1 chr1 117690272 G A 1.0000 187 NM_024626.4:c.*8C>T 3_prime_UTR_variant 5/6
|
|
306
|
+
HSD3B1 chr1 120057158 C T 0.4844 256 NM_000862.3:c.1012C>T(p.(Leu338=)) NM_000862.3:c.1012C>T synonymous_variant 4/4
|
|
307
|
+
HSD3B1 chr1 120057246 C A 0.4201 169 NP_000853.1:p.(Thr367Asn) NM_000862.3:c.1100C>A missense_variant 4/4
|
|
308
|
+
RIT1 chr1 155870416 G A 1.0000 360 NM_006912.6:c.430-7C>T splice_region_variant:intron_variant
|
|
309
|
+
RIT1 chr1 155880573 C G 1.0000 249 NM_006912.6:c.-21G>C 5_prime_UTR_variant 2/6
|
|
310
|
+
chr1 156785617 G A 1.0000 285
|
|
311
|
+
NTRK1 chr1 156848995 C T 0.7066 259 NM_002529.4:c.1887C>T(p.(Ala629=)) NM_002529.4:c.1887C>T synonymous_variant 15/17
|
|
312
|
+
SPTA1 chr1 158619728 A C 1.0000 341 NP_003117.2:p.(Ser1163Ala) NM_003126.4:c.3487T>G missense_variant 25/52
|
|
313
|
+
SPTA1 chr1 158647495 A T 1.0000 383 NM_003126.4:c.942T>A(p.(Ala314=)) NM_003126.4:c.942T>A synonymous_variant 7/52
|
|
314
|
+
SPTA1 chr1 158647631 T A 1.0000 260 NM_003126.4:c.813-7A>T splice_region_variant:intron_variant
|
|
315
|
+
SPTA1 chr1 158655036 G A 1.0000 463 NM_003126.4:c.126C>T(p.(Val42=)) NM_003126.4:c.126C>T synonymous_variant 2/52
|
|
316
|
+
SPTA1 chr1 158656281 T C 1.0000 271 NM_003126.4:c.24+3A>G splice_region_variant:intron_variant
|
|
317
|
+
SDHC chr1 161284224 A AGT 0.6199 171 NM_003001.5:c.20+11_20+12dup intron_variant
|
|
318
|
+
DDR2 chr1 162737116 C G 0.4106 302 NM_006182.4:c.1260C>G(p.(Leu420=)) NM_006182.4:c.1260C>G synonymous_variant 11/18
|
|
319
|
+
chr1 162810825 C CCAGT 0.9560 250
|
|
320
|
+
COP1 chr1 176118219 G A 0.5318 173 NM_022457.7:c.763-9C>T intron_variant
|
|
321
|
+
PIK3C2B chr1 204413297 C T 1.0000 186 NM_001377334.1:c.2773-7G>A splice_region_variant:intron_variant
|
|
322
|
+
PIK3C2B chr1 204413297 CGG TGA 1.0000 186 NM_001377334.1:c.2773-9_2773-7delinsTCA splice_region_variant:intron_variant
|
|
323
|
+
PIK3C2B chr1 204413299 G A 1.0000 182 NM_001377334.1:c.2773-9C>T intron_variant
|
|
324
|
+
PIK3C2B chr1 204423811 G A 0.4252 214 NM_001377334.1:c.2052C>T(p.(Ile684=)) NM_001377334.1:c.2052C>T synonymous_variant 12/33
|
|
325
|
+
PIK3C2B chr1 204426180 C A 0.1749 223 NP_001364263.1:p.(Val578Leu) NM_001377334.1:c.1732G>T missense_variant 10/33
|
|
326
|
+
PIK3C2B chr1 204429756 T C 0.5458 240 NM_001377334.1:c.1344A>G(p.(Gln448=)) NM_001377334.1:c.1344A>G synonymous_variant 6/33
|
|
327
|
+
PIK3C2B chr1 204438113 G T 0.4545 242 NP_001364263.1:p.(Pro273His) NM_001377334.1:c.818C>A missense_variant 2/33
|
|
328
|
+
PIK3C2B chr1 204438334 C T 1.0000 256 NM_001377334.1:c.597G>A(p.(Pro199=)) NM_001377334.1:c.597G>A synonymous_variant 2/33
|
|
329
|
+
PIK3C2B chr1 204438643 G T 1.0000 292 NM_001377334.1:c.288C>A(p.(Leu96=)) NM_001377334.1:c.288C>A synonymous_variant 2/33
|
|
330
|
+
IKBKE chr1 206647742 A G 1.0000 245 NM_014002.4:c.156=(p.(Gln52=)) NM_014002.4:c.156= synonymous_variant 4/22
|
|
331
|
+
IKBKE chr1 206647787 T C 1.0000 262 NM_014002.4:c.201T>C(p.(Ile67=)) NM_014002.4:c.201T>C synonymous_variant 4/22
|
|
332
|
+
IKBKE chr1 206651107 G A 1.0000 215 NM_014002.4:c.717G>A(p.(Thr239=)) NM_014002.4:c.717G>A synonymous_variant 8/22
|
|
333
|
+
IKBKE chr1 206653794 G A 0.4087 208 NP_054721.1:p.(Val449Met) NM_014002.4:c.1345G>A missense_variant 13/22
|
|
334
|
+
IKBKE chr1 206669465 C T 1.0000 210 NP_054721.1:p.(Pro713Leu) NM_014002.4:c.2138C>T missense_variant 22/22
|
|
335
|
+
PARP1 chr1 226570748 G T 0.2791 258 NP_001609.2:p.(Ser383Tyr) NM_001618.4:c.1148C>A missense_variant 8/23
|
|
336
|
+
PARP1 chr1 226570840 T C 1.0000 258 NM_001618.4:c.1056A>G(p.(Lys352=)) NM_001618.4:c.1056A>G synonymous_variant 8/23
|
|
337
|
+
PARP1 chr1 226573364 A G 0.3011 186 NM_001618.4:c.852T>C(p.(Ala284=)) NM_001618.4:c.852T>C synonymous_variant 7/23
|
|
338
|
+
PARP1 chr1 226580021 G T 0.3434 166 NM_001618.4:c.287-6C>A splice_region_variant:intron_variant
|
|
339
|
+
HIST3H3 chr1 228612838 G T 1.0000 320 NM_003493.3:c.189C>A(p.(Ile63=)) NM_003493.3:c.189C>A synonymous_variant 1/1
|
|
340
|
+
HIST3H3 chr1 228617493 T G 1.0000 213 upstream_gene_variant
|
|
341
|
+
chr1 233448413 C T 0.6147 218
|
|
342
|
+
chr1 239881926 A G 0.6770 257
|
|
343
|
+
chr1 242806797 T C 1.0000 276
|
|
344
|
+
AKT3 chr1 243664614 T C 0.2994 324 NM_005465.7:c.*3937A>G 3_prime_UTR_variant 14/14
|
|
345
|
+
chr2 115035 C T 1.0000 167
|
|
346
|
+
MYCN chr2 16084594 T C 1.0000 218 NM_005378.6:c.791-1021T>C intron_variant
|
|
347
|
+
MYCN chr2 16086469 C T 0.4773 220 NM_005378.6:c.*250C>T 3_prime_UTR_variant 3/3
|
|
348
|
+
MYCN chr2 16089359 T C 1.0000 188 downstream_gene_variant
|
|
349
|
+
MYCN chr2 16089442 T A 1.0000 235 downstream_gene_variant
|
|
350
|
+
GEN1 chr2 17942775 T A 0.4907 269 NP_001123481.3:p.(Ser92Thr) NM_001130009.3:c.274T>A missense_variant 3/14
|
|
351
|
+
GEN1 chr2 17954027 G A 1.0000 206 NP_001123481.3:p.(Ser310Asn) NM_001130009.3:c.929G>A missense_variant 8/14
|
|
352
|
+
GEN1 chr2 17962450 A G 0.4552 268 NM_001130009.3:c.1971A>G(p.(Glu657=)) NM_001130009.3:c.1971A>G synonymous_variant 14/14
|
|
353
|
+
GEN1 chr2 17962518 C T 0.5000 244 NP_001123481.3:p.(Thr680Ile) NM_001130009.3:c.2039C>T missense_variant 14/14
|
|
354
|
+
DNMT3A chr2 25469913 C T 0.5070 142 NM_022552.5:c.1122+7G>A splice_region_variant:intron_variant
|
|
355
|
+
ALK chr2 29416366 G C 0.4266 354 NP_004295.2:p.(Asp1529Glu) NM_004304.5:c.4587C>G missense_variant 29/29
|
|
356
|
+
ALK chr2 29416481 T C 0.4046 346 NP_004295.2:p.(Lys1491Arg) NM_004304.5:c.4472A>G missense_variant 29/29
|
|
357
|
+
ALK chr2 29416570 G A 0.5307 326 NM_004304.5:c.4383C>T(p.(Ile1461=)) NM_004304.5:c.4383C>T synonymous_variant 29/29
|
|
358
|
+
ALK chr2 29416570 GAT AAC 0.5307 326 NP_004295.2:p.(Ile1461Val) NM_004304.5:c.4381_4383delinsGTT missense_variant 29/29
|
|
359
|
+
ALK chr2 29416572 T C 1.0000 332 NP_004295.2:p.(Ile1461Val) NM_004304.5:c.4381A>G missense_variant 29/29
|
|
360
|
+
ALK chr2 29445458 G T 0.4478 335 NM_004304.5:c.3375C>A(p.(Gly1125=)) NM_004304.5:c.3375C>A synonymous_variant 21/29
|
|
361
|
+
ALK chr2 29445798 T C 1.0000 318 NM_004304.5:c.3360-325A>G intron_variant
|
|
362
|
+
ALK chr2 29446184 C G 0.4527 349 NM_004304.5:c.3359+24G>C intron_variant
|
|
363
|
+
ALK chr2 29446701 T C 0.5117 299 NM_004304.5:c.3173-307A>G intron_variant
|
|
364
|
+
ALK chr2 29446721 A G 1.0000 300 NM_004304.5:c.3173-327T>C intron_variant
|
|
365
|
+
ALK chr2 29447108 G A 0.4470 349 NM_004304.5:c.3173-714C>T intron_variant
|
|
366
|
+
ALK chr2 29447253 A G 1.0000 305 NM_004304.5:c.3173-859T>C intron_variant
|
|
367
|
+
ALK chr2 29448760 C T 0.5550 373 NM_004304.5:c.3068-329G>A intron_variant
|
|
368
|
+
ALK chr2 29449423 G A 0.5874 349 NM_004304.5:c.3067+365C>T intron_variant
|
|
369
|
+
ALK chr2 29449526 C T 0.4568 324 NM_004304.5:c.3067+262G>A intron_variant
|
|
370
|
+
ALK chr2 29455267 A G 0.5473 349 NM_004304.5:c.2535T>C(p.(Gly845=)) NM_004304.5:c.2535T>C synonymous_variant 15/29
|
|
371
|
+
ALK chr2 29543663 T C 1.0000 361 NM_004304.5:c.1500A>G(p.(Gln500=)) NM_004304.5:c.1500A>G synonymous_variant 7/29
|
|
372
|
+
ALK chr2 29670877 T C 0.4743 369 NM_004304.5:c.1155-64152A>G intron_variant
|
|
373
|
+
ALK chr2 29940529 A T 1.0000 376 NM_004304.5:c.702T>A(p.(Pro234=)) NM_004304.5:c.702T>A synonymous_variant 2/29
|
|
374
|
+
ALK chr2 30134745 T G 1.0000 310 NM_004304.5:c.667+8114A>C intron_variant
|
|
375
|
+
ALK chr2 30143499 G C 0.6145 166 NM_004304.5:c.27C>G(p.(Leu9=)) NM_004304.5:c.27C>G synonymous_variant 1/29
|
|
376
|
+
chr2 39572935 T C 1.0000 7
|
|
377
|
+
EML4 chr2 42396722 A G 0.4561 114 NM_019063.5:c.-30A>G 5_prime_UTR_variant 1/23
|
|
378
|
+
EML4 chr2 42510018 A G 1.0000 172 NP_061936.3:p.(Lys283Glu) NM_019063.5:c.847A>G missense_variant 8/23
|
|
379
|
+
EML4 chr2 42515388 A G 1.0000 177 NP_061936.3:p.(Ile382Val) NM_019063.5:c.1144A>G missense_variant 11/23
|
|
380
|
+
EML4 chr2 42515437 A G 0.5330 227 NP_061936.3:p.(Lys398Arg) NM_019063.5:c.1193A>G missense_variant 11/23
|
|
381
|
+
EML4 chr2 42556022 A T 0.6647 167 NM_019063.5:c.2342-4A>T splice_region_variant:intron_variant
|
|
382
|
+
EPCAM chr2 47601106 T C 1.0000 268 NP_002345.2:p.(Met115Thr) NM_002354.3:c.344T>C missense_variant 3/9
|
|
383
|
+
MSH2 chr2 47630550 C G 1.0000 70 NM_000251.3:c.211+9C>G intron_variant
|
|
384
|
+
MSH2 chr2 47693788 A T 0.5459 207 NM_000251.3:c.1511-9A>T intron_variant
|
|
385
|
+
MSH2 chr2 47703500 T C 0.3991 213 NM_000251.3:c.2006-6T>C splice_region_variant:intron_variant
|
|
386
|
+
MSH6 chr2 48010488 G A 0.5476 84 NP_000170.1:p.(Gly39Glu) NM_000179.3:c.116G>A missense_variant 1/10
|
|
387
|
+
MSH6 chr2 48027474 C A 0.2752 258 NP_000170.1:p.(Asn784Lys) NM_000179.3:c.2352C>A missense_variant 4/10
|
|
388
|
+
FANCL chr2 58388696 A G 1.0000 237 NM_018062.4:c.981T>C(p.(Ser327=)) NM_018062.4:c.981T>C synonymous_variant 12/14
|
|
389
|
+
chr2 95849529 C T 0.3571 14
|
|
390
|
+
INPP4A chr2 99149921 C G 0.0629 318 NP_001127697.1:p.(Ala78Gly) NM_001134225.2:c.233C>G missense_variant 5/25
|
|
391
|
+
INPP4A chr2 99172243 C T 0.6897 319 NM_001134225.2:c.1794C>T(p.(Ser598=)) NM_001134225.2:c.1794C>T synonymous_variant 16/25
|
|
392
|
+
INPP4A chr2 99189330 G C 0.4038 312 NM_001134225.2:c.2571G>C(p.(Leu857=)) NM_001134225.2:c.2571G>C synonymous_variant 23/25
|
|
393
|
+
RANBP2 chr2 109389463 G A 1.0000 236 NM_006267.5:c.8253G>A(p.(Glu2751=)) NM_006267.5:c.8253G>A synonymous_variant 23/29
|
|
394
|
+
BCL2L11 chr2 111886332 C T 0.3411 431 NM_138621.5:c.394+4616C>T intron_variant
|
|
395
|
+
BCL2L11 chr2 111887703 T A 1.0000 9 NM_138621.5:c.394+5987T>A intron_variant
|
|
396
|
+
BCL2L11 chr2 111907691 T C 1.0000 364 NM_138621.5:c.465T>C(p.(Ile155=)) NM_138621.5:c.465T>C synonymous_variant 3/4
|
|
397
|
+
PAX8 chr2 113977862 T G 1.0000 322 NM_003466.4:c.1190-107A>C intron_variant
|
|
398
|
+
PAX8 chr2 113977936 C T 0.3421 228 NM_003466.4:c.1190-181G>A intron_variant
|
|
399
|
+
PAX8 chr2 113978650 C T 0.6551 287 NM_003466.4:c.1190-895G>A intron_variant
|
|
400
|
+
PAX8 chr2 113978940 C G 0.6768 328 NM_003466.4:c.1190-1185G>C intron_variant
|
|
401
|
+
PAX8 chr2 113980645 C G 0.6282 277 NM_003466.4:c.1190-2890G>C intron_variant
|
|
402
|
+
PAX8 chr2 113981022 G A 0.6796 362 NM_003466.4:c.1190-3267C>T intron_variant
|
|
403
|
+
PAX8 chr2 113981137 T C 0.6364 308 NM_003466.4:c.1190-3382A>G intron_variant
|
|
404
|
+
PAX8 chr2 113981810 A G 0.5990 384 NM_003466.4:c.1189+2922T>C intron_variant
|
|
405
|
+
PAX8 chr2 113982584 T C 0.6120 317 NM_003466.4:c.1189+2148A>G intron_variant
|
|
406
|
+
PAX8 chr2 113982608 G A 0.5796 333 NM_003466.4:c.1189+2124C>T intron_variant
|
|
407
|
+
PAX8 chr2 113983367 G A 0.6250 208 NM_003466.4:c.1189+1365C>T intron_variant
|
|
408
|
+
PAX8 chr2 113984033 G A 0.3630 281 NM_003466.4:c.1189+699C>T intron_variant
|
|
409
|
+
PAX8 chr2 113984303 T C 0.6655 287 NM_003466.4:c.1189+429A>G intron_variant
|
|
410
|
+
PAX8 chr2 113985170 C T 0.6082 291 NM_003466.4:c.1088-337G>A intron_variant
|
|
411
|
+
PAX8 chr2 113985186 C G 0.6295 278 NM_003466.4:c.1088-353G>C intron_variant
|
|
412
|
+
PAX8 chr2 113986629 C T 0.5972 283 NM_003466.4:c.1088-1796G>A intron_variant
|
|
413
|
+
PAX8 chr2 113988492 G A 0.6892 325 NM_003466.4:c.1088-3659C>T intron_variant
|
|
414
|
+
PAX8 chr2 113989122 A AG 0.6861 309 NM_003466.4:c.1087+3848dup intron_variant
|
|
415
|
+
PAX8 chr2 113989236 C T 0.6435 359 NM_003466.4:c.1087+3735G>A intron_variant
|
|
416
|
+
PAX8 chr2 113989267 T C 0.6120 366 NM_003466.4:c.1087+3704A>G intron_variant
|
|
417
|
+
PAX8 chr2 113990242 T C 0.6220 291 NM_003466.4:c.1087+2729A>G intron_variant
|
|
418
|
+
PAX8 chr2 113990261 G A 0.6379 290 NM_003466.4:c.1087+2710C>T intron_variant
|
|
419
|
+
PAX8 chr2 113990393 C A 0.6410 312 NM_003466.4:c.1087+2578G>T intron_variant
|
|
420
|
+
PAX8 chr2 113991970 A G 0.7044 318 NM_003466.4:c.1087+1001T>C intron_variant
|
|
421
|
+
PAX8 chr2 113992374 G C 0.6544 298 NM_003466.4:c.1087+597C>G intron_variant
|
|
422
|
+
PAX8 chr2 113992800 TCC T 0.7107 242 NM_003466.4:c.1087+169_1087+170del intron_variant
|
|
423
|
+
PAX8 chr2 113993073 A G 0.3249 277 NP_003457.1:p.(Phe329Leu) NM_003466.4:c.985T>C missense_variant 9/12
|
|
424
|
+
PAX8 chr2 113993344 A C 0.7350 317 NM_003466.4:c.899-185T>G intron_variant
|
|
425
|
+
PAX8 chr2 113993385 C G 0.6909 317 NM_003466.4:c.899-226G>C intron_variant
|
|
426
|
+
PAX8 chr2 113993718 C T 0.2061 131 NM_003466.4:c.898+460G>A intron_variant
|
|
427
|
+
PAX8 chr2 113993768 C T 0.5833 156 NM_003466.4:c.898+410G>A intron_variant
|
|
428
|
+
PAX8 chr2 114036436 G C 1.0000 321 NM_003466.4:c.-104= 5_prime_UTR_variant 1/12
|
|
429
|
+
CXCR4 chr2 136873084 G A 0.7692 286 NM_003467.3:c.414C>T(p.(Ile138=)) NM_003467.3:c.414C>T synonymous_variant 2/2
|
|
430
|
+
LRP1B chr2 141032088 C T 1.0000 316 NM_018557.3:c.13047G>A(p.(Thr4349=)) NM_018557.3:c.13047G>A synonymous_variant 85/91
|
|
431
|
+
LRP1B chr2 141259283 G A 0.6886 289 NM_018557.3:c.8823C>T(p.(Asp2941=)) NM_018557.3:c.8823C>T synonymous_variant 55/91
|
|
432
|
+
LRP1B chr2 141259376 G A 0.7176 347 NM_018557.3:c.8730C>T(p.(Cys2910=)) NM_018557.3:c.8730C>T synonymous_variant 55/91
|
|
433
|
+
LRP1B chr2 141260668 A G 1.0000 263 NM_018557.3:c.8526T>C(p.(Tyr2842=)) NM_018557.3:c.8526T>C synonymous_variant 54/91
|
|
434
|
+
LRP1B chr2 141274576 T C 0.7426 272 NM_018557.3:c.8031A>G(p.(Gln2677=)) NM_018557.3:c.8031A>G synonymous_variant 50/91
|
|
435
|
+
LRP1B chr2 141298674 T C 1.0000 203 NM_018557.3:c.7388-7A>G splice_region_variant:intron_variant
|
|
436
|
+
LRP1B chr2 141457985 T A 0.7120 316 NM_018557.3:c.6633A>T(p.(Pro2211=)) NM_018557.3:c.6633A>T synonymous_variant 41/91
|
|
437
|
+
LRP1B chr2 141533662 T C 0.9945 183 NM_018557.3:c.5500+5A>G splice_region_variant:intron_variant
|
|
438
|
+
LRP1B chr2 141571329 T C 0.9966 297 NM_018557.3:c.5256A>G(p.(Ser1752=)) NM_018557.3:c.5256A>G synonymous_variant 32/91
|
|
439
|
+
LRP1B chr2 141625410 A C 0.6966 178 NM_018557.3:c.4335-7T>G splice_region_variant:intron_variant
|
|
440
|
+
LRP1B chr2 141709419 T G 1.0000 268 NM_018557.3:c.2968+10A>C intron_variant
|
|
441
|
+
LRP1B chr2 141816621 A G 1.0000 137 NM_018557.3:c.1239T>C(p.(Val413=)) NM_018557.3:c.1239T>C splice_region_variant:synonymous_variant 9/91
|
|
442
|
+
ACVR1 chr2 158626980 C T 1.0000 316 NM_001111067.4:c.690G>A(p.(Glu230=)) NM_001111067.4:c.690G>A synonymous_variant 7/11
|
|
443
|
+
ACVR1 chr2 158636910 G A 1.0000 275 NM_001111067.4:c.270C>T(p.(Ala90=)) NM_001111067.4:c.270C>T synonymous_variant 4/11
|
|
444
|
+
chr2 169800273 A ACGTG 0.2554 231
|
|
445
|
+
chr2 169800302 G GT 0.2742 124
|
|
446
|
+
PDK1 chr2 173460640 T C 1.0000 372 NM_002610.5:c.1254T>C(p.(Asp418=)) NM_002610.5:c.1254T>C synonymous_variant 11/11
|
|
447
|
+
chr2 182413259 A G 1.0000 232
|
|
448
|
+
STAT4 chr2 191922841 G A 0.6281 199 NM_003151.4:c.1113-4C>T splice_region_variant:intron_variant
|
|
449
|
+
SF3B1 chr2 198257795 T C 0.3750 208 NM_012433.4:c.3657A>G(p.(Val1219=)) NM_012433.4:c.3657A>G synonymous_variant 24/25
|
|
450
|
+
SF3B1 chr2 198265526 A G 0.3074 283 NM_012433.4:c.2631T>C(p.(Gly877=)) NM_012433.4:c.2631T>C synonymous_variant 18/25
|
|
451
|
+
SF3B1 chr2 198283305 T C 0.3361 238 NM_012433.4:c.423A>G(p.(Lys141=)) NM_012433.4:c.423A>G synonymous_variant 5/25
|
|
452
|
+
CASP8 chr2 202122995 A G 1.0000 149 upstream_gene_variant
|
|
453
|
+
IDH1 chr2 209108317 C T 0.2922 154 NP_005887.2:p.(Val178Ile) NM_005896.4:c.532G>A missense_variant 6/10
|
|
454
|
+
IDH1 chr2 209113192 G A 0.3566 244 NM_005896.4:c.315C>T(p.(Gly105=)) NM_005896.4:c.315C>T synonymous_variant 4/10
|
|
455
|
+
ERBB4 chr2 212578379 TA T 0.8929 94 NM_005235.3:c.884-7del splice_region_variant:intron_variant
|
|
456
|
+
BARD1 chr2 215632256 A G 0.3559 222 NM_000465.4:c.1518T>C(p.(His506=)) NM_000465.4:c.1518T>C synonymous_variant 6/11
|
|
457
|
+
BARD1 chr2 215645545 C G 0.3566 272 NM_000465.4:c.1053G>C(p.(Thr351=)) NM_000465.4:c.1053G>C synonymous_variant 4/11
|
|
458
|
+
INHA chr2 220439678 C T 0.3763 295 NM_002191.4:c.531C>T(p.(Ala177=)) NM_002191.4:c.531C>T synonymous_variant 2/2
|
|
459
|
+
INHA chr2 220439916 G A 0.6510 192 NP_002182.1:p.(Ala257Thr) NM_002191.4:c.769G>A missense_variant 2/2
|
|
460
|
+
PAX3 chr2 223068286 G A 1.0000 290 NM_181458.4:c.1174-1377C>T intron_variant
|
|
461
|
+
PAX3 chr2 223068821 A T 0.9961 255 NM_181458.4:c.1174-1912T>A intron_variant
|
|
462
|
+
PAX3 chr2 223069079 T C 1.0000 250 NM_181458.4:c.1174-2170A>G intron_variant
|
|
463
|
+
PAX3 chr2 223069625 T C 1.0000 274 NM_181458.4:c.1174-2716A>G intron_variant
|
|
464
|
+
PAX3 chr2 223069868 T C 1.0000 307 NM_181458.4:c.1174-2959A>G intron_variant
|
|
465
|
+
PAX3 chr2 223074651 A G 1.0000 259 NM_181458.4:c.1174-7742T>C intron_variant
|
|
466
|
+
PAX3 chr2 223075071 C T 1.0000 252 NM_181458.4:c.1174-8162G>A intron_variant
|
|
467
|
+
PAX3 chr2 223075268 C T 0.9966 298 NM_181458.4:c.1174-8359G>A intron_variant
|
|
468
|
+
PAX3 chr2 223077203 G A 0.3067 326 NM_181458.4:c.1173+7656C>T intron_variant
|
|
469
|
+
PAX3 chr2 223082526 G C 1.0000 291 NM_181458.4:c.1173+2333C>G intron_variant
|
|
470
|
+
PAX3 chr2 223083079 T C 1.0000 279 NM_181458.4:c.1173+1780A>G intron_variant
|
|
471
|
+
PAX3 chr2 223085533 C T 0.1403 278 NM_181458.4:c.958+408G>A intron_variant
|
|
472
|
+
CUL3 chr2 225346646 T C 0.2522 226 NM_003590.5:c.1992A>G(p.(Gln664=)) NM_003590.5:c.1992A>G synonymous_variant 14/16
|
|
473
|
+
CUL3 chr2 225362478 C T 0.2644 208 NP_003581.1:p.(Val567Ile) NM_003590.5:c.1699G>A missense_variant 12/16
|
|
474
|
+
chr2 235016388 A ATG 0.7039 233
|
|
475
|
+
chr2 239563579 G C 0.2857 238
|
|
476
|
+
chr2 239563597 G A 0.3051 236
|
|
477
|
+
PDCD1 chr2 242793273 A G 0.3053 190 NM_005018.3:c.804T>C(p.(Ala268=)) NM_005018.3:c.804T>C synonymous_variant 5/5
|
|
478
|
+
chr3 961782 A T 0.7599 329
|
|
479
|
+
FANCD2 chr3 10138069 T G 0.2336 381 NM_001018115.3:c.4098T>G(p.(Leu1366=)) NM_001018115.3:c.4098T>G synonymous_variant 42/44
|
|
480
|
+
PPARG chr3 12398891 C T 0.6652 445 NM_138711.6:c.-8-22312C>T intron_variant
|
|
481
|
+
PPARG chr3 12402474 C T 1.0000 402 NM_138711.6:c.-8-18729C>T intron_variant
|
|
482
|
+
PPARG chr3 12402601 A G 1.0000 483 NM_138711.6:c.-8-18602A>G intron_variant
|
|
483
|
+
PPARG chr3 12403119 G T 1.0000 497 NM_138711.6:c.-8-18084G>T intron_variant
|
|
484
|
+
PPARG chr3 12404490 T C 1.0000 414 NM_138711.6:c.-8-16713T>C intron_variant
|
|
485
|
+
PPARG chr3 12408278 A G 0.9960 506 NM_138711.6:c.-8-12925A>G intron_variant
|
|
486
|
+
PPARG chr3 12409689 G T 0.9583 96 NM_138711.6:c.-8-11514G>T intron_variant
|
|
487
|
+
PPARG chr3 12412115 G A 1.0000 442 NM_138711.6:c.-8-9088G>A intron_variant
|
|
488
|
+
PPARG chr3 12414905 C T 0.0483 476 NM_138711.6:c.-8-6298C>T intron_variant
|
|
489
|
+
PPARG chr3 12415839 C T 1.0000 242 NM_138711.6:c.-8-5364C>T intron_variant
|
|
490
|
+
PPARG chr3 12418612 C T 1.0000 459 NM_138711.6:c.-8-2591C>T intron_variant
|
|
491
|
+
PPARG chr3 12419356 G C 0.0826 363 NM_138711.6:c.-8-1847G>C intron_variant
|
|
492
|
+
PPARG chr3 12419475 T C 0.9978 462 NM_138711.6:c.-8-1728T>C intron_variant
|
|
493
|
+
PPARG chr3 12420575 A G 0.9970 336 NM_138711.6:c.-8-628A>G intron_variant
|
|
494
|
+
PPARG chr3 12458240 G T 0.2782 381 NP_619725.3:p.(Gly256Val) NM_138711.6:c.767G>T missense_variant 7/8
|
|
495
|
+
RAF1 chr3 12640428 G A 0.6055 289 NM_002880.4:c.1108+762C>T intron_variant
|
|
496
|
+
RAF1 chr3 12657718 A G 0.3231 424 NM_002880.4:c.207+2296T>C intron_variant
|
|
497
|
+
RAF1 chr3 12666367 A G 0.3372 258 NM_002880.4:c.-26-6121T>C intron_variant
|
|
498
|
+
RAF1 chr3 12691265 G A 0.3525 244 NM_002880.4:c.-27+14047C>T intron_variant
|
|
499
|
+
RAF1 chr3 12695252 C G 0.2933 341 NM_002880.4:c.-27+10060G>C intron_variant
|
|
500
|
+
TGFBR2 chr3 30686414 A G 0.7189 217 NM_003242.6:c.263+7A>G splice_region_variant:intron_variant
|
|
501
|
+
TGFBR2 chr3 30713126 T A 0.7069 174 NM_003242.6:c.455-4T>A splice_region_variant:intron_variant
|
|
502
|
+
chr3 32417644 T G 0.6611 416
|
|
503
|
+
SETD2 chr3 47125385 G A 0.6163 417 NP_054878.5:p.(Pro1962Leu) NM_014159.7:c.5885C>T missense_variant 12/21
|
|
504
|
+
SETD2 chr3 47162661 A G 0.5821 390 NM_014159.7:c.3465T>C(p.(Asn1155=)) NM_014159.7:c.3465T>C synonymous_variant 3/21
|
|
505
|
+
RHOA chr3 49433401 C T 1.0000 253 NM_001664.4:c.-3+15852G>A intron_variant
|
|
506
|
+
MST1 chr3 49723784 C A 0.9333 150 NM_020998.4:c.978G>T(p.(Pro326=)) NM_020998.4:c.978G>T synonymous_variant 8/18
|
|
507
|
+
MST1 chr3 49724808 T C 0.9960 248 NM_020998.4:c.459A>G(p.(Pro153=)) NM_020998.4:c.459A>G synonymous_variant 4/18
|
|
508
|
+
MST1R chr3 49928691 T C 1.0000 275 NM_002447.4:c.3583=(p.(Gly1195=)) NM_002447.4:c.3583= synonymous_variant 17/20
|
|
509
|
+
PBRM1 chr3 52584431 T TCTC 1.0000 257 NM_001394867.1:c.4897+5_4897+6insGAG splice_region_variant:intron_variant
|
|
510
|
+
PBRM1 chr3 52584787 T C 1.0000 278 NM_001394867.1:c.4656A>G(p.(Pro1552=)) NM_001394867.1:c.4656A>G synonymous_variant 30/32
|
|
511
|
+
PBRM1 chr3 52610651 T A 1.0000 303 NM_001394867.1:c.3597A>T(p.(Pro1199=)) NM_001394867.1:c.3597A>T synonymous_variant 24/32
|
|
512
|
+
PBRM1 chr3 52643685 T C 1.0000 325 NM_001394867.1:c.2211A>G(p.(Thr737=)) NM_001394867.1:c.2211A>G synonymous_variant 18/32
|
|
513
|
+
PBRM1 chr3 52676065 C T 0.7826 123 NM_001394867.1:c.996-4G>A splice_region_variant:intron_variant
|
|
514
|
+
RYBP chr3 72495777 C G 1.0000 71 upstream_gene_variant
|
|
515
|
+
EPHA3 chr3 89521693 T C 0.3741 278 NP_005224.2:p.(Trp924Arg) NM_005233.6:c.2770T>C missense_variant 16/17
|
|
516
|
+
EPHA3 chr3 89521725 T C 0.4149 282 NM_005233.6:c.2802T>C(p.(Gly934=)) NM_005233.6:c.2802T>C synonymous_variant 16/17
|
|
517
|
+
chr3 110301025 C T 0.5806 248
|
|
518
|
+
chr3 110301062 G T 0.5252 278
|
|
519
|
+
chr3 110301126 T G 0.5896 268
|
|
520
|
+
GATA2 chr3 128205860 G C 0.5714 56 NM_032638.5:c.15C>G(p.(Pro5=)) NM_032638.5:c.15C>G synonymous_variant 2/6
|
|
521
|
+
EPHB1 chr3 134898742 C T 0.5591 254 NM_004441.5:c.1800C>T(p.(Tyr600=)) NM_004441.5:c.1800C>T synonymous_variant 10/16
|
|
522
|
+
STAG1 chr3 136088038 G A 0.4671 334 NM_005862.3:c.2457C>T(p.(Phe819=)) NM_005862.3:c.2457C>T synonymous_variant 24/34
|
|
523
|
+
PIK3CB chr3 138411214 A G 0.5029 350 NM_006219.3:c.1893-1229T>C intron_variant
|
|
524
|
+
PIK3CB chr3 138426428 T C 0.4623 212 NM_006219.3:c.1400-297A>G intron_variant
|
|
525
|
+
PIK3CB chr3 138433568 C T 0.4496 278 NM_006219.3:c.1051-7G>A splice_region_variant:intron_variant
|
|
526
|
+
ATR chr3 142168331 C T 1.0000 302 NM_001184.4:c.7875G>A(p.(Gln2625=)) NM_001184.4:c.7875G>A synonymous_variant 47/47
|
|
527
|
+
ATR chr3 142178144 C T 0.4838 308 NP_001175.2:p.(Arg2425Gln) NM_001184.4:c.7274G>A missense_variant 43/47
|
|
528
|
+
ATR chr3 142222284 A G 0.4762 231 NM_001184.4:c.5208T>C(p.(Tyr1736=)) NM_001184.4:c.5208T>C synonymous_variant 30/47
|
|
529
|
+
ATR chr3 142226917 TACACTCTGATA T 0.0073 274 NP_001175.2:p.(Tyr1626AsnfsTer30) NM_001184.4:c.4876_4886del frameshift_variant 28/47
|
|
530
|
+
ATR chr3 142277536 A G 0.5248 282 NM_001184.4:c.1815T>C(p.(Asp605=)) NM_001184.4:c.1815T>C synonymous_variant 8/47
|
|
531
|
+
ATR chr3 142277575 A T 1.0000 266 NM_001184.4:c.1776T>A(p.(Gly592=)) NM_001184.4:c.1776T>A synonymous_variant 8/47
|
|
532
|
+
ATR chr3 142281612 A G 1.0000 308 NP_001175.2:p.(Met211Thr) NM_001184.4:c.632T>C missense_variant 4/47
|
|
533
|
+
TERC chr3 169482476 C G 0.1487 316 NR_001566.1:n.373G>C non_coding_transcript_exon_variant 1/1
|
|
534
|
+
PIK3CA chr3 178866408 C T 0.5702 114 NM_006218.4:c.-77+17C>T intron_variant
|
|
535
|
+
PIK3CA chr3 178884337 C T 0.4094 276 NM_006218.4:c.-77+17946C>T intron_variant
|
|
536
|
+
PIK3CA chr3 178891409 G A 0.5510 196 NM_006218.4:c.-77+25018G>A intron_variant
|
|
537
|
+
PIK3CA chr3 178891409 GATTGATGGTTCA AATTGATGGTTCG 0.5510 196 NM_006218.4:c.-77+25018_-77+25030delinsAATTGATGGTTCG intron_variant
|
|
538
|
+
PIK3CA chr3 178891421 A G 0.5695 223 NM_006218.4:c.-77+25030A>G intron_variant
|
|
539
|
+
PIK3CA chr3 178892409 G A 0.5872 235 NM_006218.4:c.-76-24129G>A intron_variant
|
|
540
|
+
PIK3CA chr3 178927410 A G 0.5625 272 NP_006209.2:p.(Ile391Met) NM_006218.4:c.1173A>G missense_variant 7/21
|
|
541
|
+
PIK3CA chr3 178950297 C T 1.0000 205 NM_006218.4:c.2937-1585C>T intron_variant
|
|
542
|
+
DCUN1D1 chr3 182681740 C T 1.0000 346 NM_020640.4:c.318G>A(p.(Ala106=)) NM_020640.4:c.318G>A synonymous_variant 3/7
|
|
543
|
+
MAP3K13 chr3 185191253 G A 0.4950 303 NP_004712.1:p.(Glu712Lys) NM_004721.5:c.2134G>A missense_variant 11/14
|
|
544
|
+
ETV5 chr3 185764463 G A 0.5640 211 NM_004454.3:c.*1965C>T 3_prime_UTR_variant 13/13
|
|
545
|
+
ETV5 chr3 185765580 G GT 0.5068 293 NM_004454.3:c.*847dup 3_prime_UTR_variant 13/13
|
|
546
|
+
BCL6 chr3 187447032 G A 0.4630 324 NM_001706.5:c.1161C>T(p.(Asn387=)) NM_001706.5:c.1161C>T synonymous_variant 5/10
|
|
547
|
+
chr3 193207380 T C 0.6877 253
|
|
548
|
+
TFRC chr3 195794241 A T 1.0000 110 NM_001128148.3:c.1040+148T>A intron_variant
|
|
549
|
+
TFRC chr3 195798258 T C 1.0000 208 NM_001128148.3:c.687+9A>G intron_variant
|
|
550
|
+
TFRC chr3 195800811 C T 1.0000 217 NP_001121620.1:p.(Gly142Ser) NM_001128148.3:c.424G>A missense_variant 4/19
|
|
551
|
+
FGFR3 chr4 1804377 G A 1.0000 128 NM_000142.5:c.930+625G>A intron_variant
|
|
552
|
+
FGFR3 chr4 1807894 G A 1.0000 236 NM_000142.5:c.1953G>A(p.(Thr651=)) NM_000142.5:c.1953G>A synonymous_variant 14/18
|
|
553
|
+
DHX15 chr4 24534687 T C 0.5112 356 NM_001358.3:c.1910-10A>G intron_variant
|
|
554
|
+
chr4 46329655 A T 0.4173 254
|
|
555
|
+
chr4 46329723 T A 0.4367 245
|
|
556
|
+
PDGFRA chr4 55141055 A G 1.0000 281 NM_006206.6:c.1701A>G(p.(Pro567=)) NM_006206.6:c.1701A>G synonymous_variant 12/23
|
|
557
|
+
PDGFRA chr4 55161391 T C 1.0000 253 NM_006206.6:c.3222T>C(p.(Asp1074=)) NM_006206.6:c.3222T>C synonymous_variant 23/23
|
|
558
|
+
KIT chr4 55573693 G A 1.0000 259 NM_000222.3:c.1115+240G>A intron_variant
|
|
559
|
+
KIT chr4 55580904 C T 1.0000 242 NM_000222.3:c.1231+5199C>T intron_variant
|
|
560
|
+
KDR chr4 55970978 C T 0.4855 311 NP_002244.1:p.(Asp607Asn) NM_002253.4:c.1819G>A missense_variant 13/30
|
|
561
|
+
KDR chr4 55972974 T A 0.4607 267 NP_002244.1:p.(Gln472His) NM_002253.4:c.1416A>T missense_variant 11/30
|
|
562
|
+
EPHA5 chr4 66197804 C T 0.3951 243 NM_001281766.3:c.2832G>A(p.(Gly944=)) NM_001281766.3:c.2832G>A synonymous_variant 16/17
|
|
563
|
+
EPHA5 chr4 66280171 C T 1.0000 169 NM_001281766.3:c.1528-10G>A intron_variant
|
|
564
|
+
EPHA5 chr4 66535284 G A 0.3571 126 NM_001281766.3:c.177C>T(p.(Asn59=)) NM_001281766.3:c.177C>T synonymous_variant 1/17
|
|
565
|
+
FGF5 chr4 81186375 T C 0.3184 223 upstream_gene_variant
|
|
566
|
+
FGF5 chr4 81186480 G T 0.2828 145 upstream_gene_variant
|
|
567
|
+
FGF5 chr4 81189589 C T 0.2396 217 NM_004464.4:c.355+1256C>T intron_variant
|
|
568
|
+
FGF5 chr4 81189589 CCATCTCAGACCAAA TCATCTCAGACCAAC 0.2336 214 NM_004464.4:c.355+1256_355+1270delinsTCATCTCAGACCAAC intron_variant
|
|
569
|
+
FGF5 chr4 81189603 A C 0.2336 214 NM_004464.4:c.355+1270A>C intron_variant
|
|
570
|
+
FGF5 chr4 81195367 T A 0.2956 159 NM_004464.4:c.356-696T>A intron_variant
|
|
571
|
+
FGF5 chr4 81202382 C T 0.3196 194 NM_004464.4:c.460-5097C>T intron_variant
|
|
572
|
+
FGF5 chr4 81202398 T C 1.0000 219 NM_004464.4:c.460-5081T>C intron_variant
|
|
573
|
+
FGF5 chr4 81205197 G T 0.3214 252 NM_004464.4:c.460-2282G>T intron_variant
|
|
574
|
+
FGF5 chr4 81205229 C T 0.3648 244 NM_004464.4:c.460-2250C>T intron_variant
|
|
575
|
+
FGF5 chr4 81206377 T A 0.3689 225 NM_004464.4:c.460-1102T>A intron_variant
|
|
576
|
+
FGF5 chr4 81207963 A G 0.2941 187 NM_004464.4:c.*137A>G 3_prime_UTR_variant 3/3
|
|
577
|
+
FGF5 chr4 81208992 A T 0.3333 198 NM_004464.4:c.*1166A>T 3_prime_UTR_variant 3/3
|
|
578
|
+
FGF5 chr4 81211570 G C 0.3591 220 NM_004464.4:c.*3744G>C 3_prime_UTR_variant 3/3
|
|
579
|
+
ABRAXAS1 chr4 84383810 C T 0.5418 275 NP_620775.2:p.(Ala348Thr) NM_139076.3:c.1042G>A missense_variant 9/9
|
|
580
|
+
EIF4E chr4 99850126 A G 0.4433 97 NM_001968.5:c.18+120T>C intron_variant
|
|
581
|
+
TET2 chr4 106155185 C G 0.5729 199 NP_001120680.1:p.(Pro29Arg) NM_001127208.3:c.86C>G missense_variant 3/11
|
|
582
|
+
TET2 chr4 106159644 T A 1.0000 251 NM_001127208.3:c.3409+1136T>A intron_variant
|
|
583
|
+
TET2 chr4 106180928 T A 0.1262 214 NM_001127208.3:c.3954+2T>A splice_donor_variant
|
|
584
|
+
TET2 chr4 106196770 G A 0.4826 201 NP_001120680.1:p.(Met1701Ile) NM_001127208.3:c.5103G>A missense_variant 11/11
|
|
585
|
+
TET2 chr4 106196951 A G 0.5166 211 NP_001120680.1:p.(Ile1762Val) NM_001127208.3:c.5284A>G missense_variant 11/11
|
|
586
|
+
chr4 107889798 C T 1.0000 67
|
|
587
|
+
FGF2 chr4 123751737 C T 0.5000 270 NM_001361665.2:c.178+3230C>T intron_variant
|
|
588
|
+
FGF2 chr4 123807262 G A 0.3775 151 NM_001361665.2:c.283-6104G>A intron_variant
|
|
589
|
+
INPP4B chr4 143007419 A G 1.0000 117 NM_001101669.3:c.2375-10T>C intron_variant
|
|
590
|
+
chr4 169663615 T G 1.0000 211
|
|
591
|
+
IRF2 chr4 185310218 C T 0.6879 157 NM_002199.4:c.744G>A(p.(Gly248=)) NM_002199.4:c.744G>A splice_region_variant:synonymous_variant 9/9
|
|
592
|
+
FAT1 chr4 187516880 A G 0.6695 239 NM_005245.4:c.13101T>C(p.(Ser4367=)) NM_005245.4:c.13101T>C synonymous_variant 26/27
|
|
593
|
+
FAT1 chr4 187519206 C G 1.0000 262 NP_005236.2:p.(Lys4059Asn) NM_005245.4:c.12177G>C missense_variant 23/27
|
|
594
|
+
FAT1 chr4 187525020 A C 0.6304 230 NP_005236.2:p.(Ser3554Ala) NM_005245.4:c.10660T>G missense_variant 19/27
|
|
595
|
+
FAT1 chr4 187534363 G A 1.0000 269 NM_005245.4:c.9363C>T(p.(Asn3121=)) NM_005245.4:c.9363C>T synonymous_variant 13/27
|
|
596
|
+
FAT1 chr4 187534363 GTTATCGTTCACA ATTATCGTTCACG 1.0000 269 NM_005245.4:c.9351_9363delinsCGTGAACGATAAT(p.(Asp3117=)) NM_005245.4:c.9351_9363delinsCGTGAACGATAAT synonymous_variant 13/27
|
|
597
|
+
FAT1 chr4 187534375 A G 1.0000 252 NM_005245.4:c.9351T>C(p.(Asp3117=)) NM_005245.4:c.9351T>C synonymous_variant 13/27
|
|
598
|
+
FAT1 chr4 187538330 G A 1.0000 178 NM_005245.4:c.8904C>T(p.(Ala2968=)) NM_005245.4:c.8904C>T synonymous_variant 11/27
|
|
599
|
+
FAT1 chr4 187538942 T G 1.0000 229 NP_005236.2:p.(Gln2933Pro) NM_005245.4:c.8798A>C missense_variant 10/27
|
|
600
|
+
FAT1 chr4 187557893 T C 1.0000 287 NP_005236.2:p.(His1273Arg) NM_005245.4:c.3818A>G missense_variant 5/27
|
|
601
|
+
FAT1 chr4 187584771 C G 1.0000 131 NM_005245.4:c.3266-4G>C splice_region_variant:intron_variant
|
|
602
|
+
FAT1 chr4 187627792 T C 0.4015 264 NP_005236.2:p.(Arg1064Gly) NM_005245.4:c.3190A>G missense_variant 2/27
|
|
603
|
+
FAT1 chr4 187628398 C G 0.3333 288 NP_005236.2:p.(Val862Leu) NM_005245.4:c.2584G>C missense_variant 2/27
|
|
604
|
+
FAT1 chr4 187629137 A G 0.6389 216 NM_005245.4:c.1845T>C(p.(Phe615=)) NM_005245.4:c.1845T>C synonymous_variant 2/27
|
|
605
|
+
FAT1 chr4 187629140 G C 0.3585 212 NP_005236.2:p.(Phe614Leu) NM_005245.4:c.1842C>G missense_variant 2/27
|
|
606
|
+
FAT1 chr4 187629497 G A 0.3306 248 NM_005245.4:c.1485C>T(p.(Asn495=)) NM_005245.4:c.1485C>T synonymous_variant 2/27
|
|
607
|
+
FAT1 chr4 187629538 C T 0.3471 242 NP_005236.2:p.(Val482Ile) NM_005245.4:c.1444G>A missense_variant 2/27
|
|
608
|
+
FAT1 chr4 187629770 A C 0.3636 253 NP_005236.2:p.(Ser404Arg) NM_005245.4:c.1212T>G missense_variant 2/27
|
|
609
|
+
chr4 190318080 C G 0.6026 229
|
|
610
|
+
SDHA chr5 223646 A T 0.4000 285 NP_004159.2:p.(Asp38Val) NM_004168.4:c.113A>T missense_variant 2/15
|
|
611
|
+
SDHA chr5 231111 T C 1.0000 225 NM_004168.4:c.891T>C(p.(Pro297=)) NM_004168.4:c.891T>C synonymous_variant 7/15
|
|
612
|
+
TERT chr5 1295349 A G 0.3584 173 upstream_gene_variant
|
|
613
|
+
TERT chr5 1295373 C T 0.6364 154 upstream_gene_variant
|
|
614
|
+
TERT chr5 1295452 C G 0.4783 46 upstream_gene_variant
|
|
615
|
+
chr5 2879395 G A 0.5205 244
|
|
616
|
+
chr5 17374898 A G 0.6535 228
|
|
617
|
+
IL7R chr5 35861068 T C 1.0000 235 NP_002176.2:p.(Ile66Thr) NM_002185.5:c.197T>C missense_variant 2/8
|
|
618
|
+
IL7R chr5 35871190 G A 1.0000 287 NP_002176.2:p.(Val138Ile) NM_002185.5:c.412G>A missense_variant 4/8
|
|
619
|
+
IL7R chr5 35874575 C T 0.5109 276 NP_002176.2:p.(Thr244Ile) NM_002185.5:c.731C>T missense_variant 6/8
|
|
620
|
+
IL7R chr5 35876274 A G 0.4030 268 NP_002176.2:p.(Ile356Val) NM_002185.5:c.1066A>G missense_variant 8/8
|
|
621
|
+
RICTOR chr5 38950776 G A 1.0000 301 NM_152756.5:c.3174C>T(p.(Ser1058=)) NM_152756.5:c.3174C>T synonymous_variant 31/38
|
|
622
|
+
RICTOR chr5 38953665 G GA 0.9618 131 NM_152756.5:c.2698-11dup intron_variant
|
|
623
|
+
RICTOR chr5 38955796 G A 0.4299 214 NP_689969.2:p.(Ser837Phe) NM_152756.5:c.2510C>T missense_variant 26/38
|
|
624
|
+
FGF10 chr5 44313303 T C 1.0000 221 NM_004465.2:c.326-2671A>G intron_variant
|
|
625
|
+
FGF10 chr5 44314840 T C 0.1422 232 NM_004465.2:c.326-4208A>G intron_variant
|
|
626
|
+
FGF10 chr5 44328829 A C 0.9910 221 NM_004465.2:c.326-18197T>G intron_variant
|
|
627
|
+
FGF10 chr5 44355326 T C 1.0000 222 NM_004465.2:c.325+33134A>G intron_variant
|
|
628
|
+
FGF10 chr5 44355363 T C 1.0000 223 NM_004465.2:c.325+33097A>G intron_variant
|
|
629
|
+
FGF10 chr5 44355403 A G 0.9930 143 NM_004465.2:c.325+33057T>C intron_variant
|
|
630
|
+
FGF10 chr5 44361785 C T 1.0000 203 NM_004465.2:c.325+26675G>A intron_variant
|
|
631
|
+
FGF10 chr5 44362769 C T 1.0000 201 NM_004465.2:c.325+25691G>A intron_variant
|
|
632
|
+
FGF10 chr5 44377060 G A 1.0000 213 NM_004465.2:c.325+11400C>T intron_variant
|
|
633
|
+
FGF10 chr5 44377083 G T 1.0000 227 NM_004465.2:c.325+11377C>A intron_variant
|
|
634
|
+
MAP3K1 chr5 56161787 G A 0.5568 176 NM_005921.2:c.1284G>A(p.(Thr428=)) NM_005921.2:c.1284G>A synonymous_variant 6/20
|
|
635
|
+
MAP3K1 chr5 56177443 G A 0.4971 171 NP_005912.1:p.(Asp806Asn) NM_005921.2:c.2416G>A missense_variant 14/20
|
|
636
|
+
MAP3K1 chr5 56177743 G A 0.5842 202 NP_005912.1:p.(Val906Ile) NM_005921.2:c.2716G>A missense_variant 14/20
|
|
637
|
+
MAP3K1 chr5 56178217 A C 0.6135 207 NM_005921.2:c.3190A>C(p.(Arg1064=)) NM_005921.2:c.3190A>C synonymous_variant 14/20
|
|
638
|
+
PLK2 chr5 57754005 G A 0.5580 138 NM_006622.4:c.626-7C>T splice_region_variant:intron_variant
|
|
639
|
+
PLK2 chr5 57754808 G A 0.6047 129 NM_006622.4:c.378+4C>T splice_region_variant:intron_variant
|
|
640
|
+
PLK2 chr5 57755703 C T 0.6061 99 NM_006622.4:c.84G>A(p.(Ala28=)) NM_006622.4:c.84G>A synonymous_variant 1/14
|
|
641
|
+
PIK3R1 chr5 67592170 G T 0.1395 129 NM_181523.3:c.1985+1G>T splice_donor_variant
|
|
642
|
+
MSH3 chr5 79950781 A G 0.5366 41 NP_002430.3:p.(Ile79Val) NM_002439.5:c.235A>G missense_variant:splice_region_variant 1/24
|
|
643
|
+
MSH3 chr5 79966029 G A 0.5683 227 NM_002439.5:c.693G>A(p.(Pro231=)) NM_002439.5:c.693G>A synonymous_variant 4/24
|
|
644
|
+
MSH3 chr5 80149981 A G 1.0000 214 NP_002430.3:p.(Gln949Arg) NM_002439.5:c.2846A>G missense_variant 21/24
|
|
645
|
+
MSH3 chr5 80168937 G A 0.3774 159 NP_002430.3:p.(Ala1045Thr) NM_002439.5:c.3133G>A missense_variant:splice_region_variant 23/24
|
|
646
|
+
APC chr5 112162854 T C 0.4222 180 NM_000038.6:c.1458T>C(p.(Tyr486=)) NM_000038.6:c.1458T>C synonymous_variant 12/16
|
|
647
|
+
APC chr5 112164561 G A 0.3977 171 NM_000038.6:c.1635G>A(p.(Ala545=)) NM_000038.6:c.1635G>A synonymous_variant 14/16
|
|
648
|
+
APC chr5 112175770 G A 0.4767 193 NM_000038.6:c.4479G>A(p.(Thr1493=)) NM_000038.6:c.4479G>A synonymous_variant 16/16
|
|
649
|
+
APC chr5 112176325 G A 0.4037 218 NM_000038.6:c.5034G>A(p.(Gly1678=)) NM_000038.6:c.5034G>A synonymous_variant 16/16
|
|
650
|
+
APC chr5 112176559 T G 0.4038 213 NM_000038.6:c.5268T>G(p.(Ser1756=)) NM_000038.6:c.5268T>G synonymous_variant 16/16
|
|
651
|
+
APC chr5 112176756 T A 1.0000 214 NP_000029.2:p.(Val1822Asp) NM_000038.6:c.5465T>A missense_variant 16/16
|
|
652
|
+
APC chr5 112177171 G A 0.4484 223 NM_000038.6:c.5880G>A(p.(Pro1960=)) NM_000038.6:c.5880G>A synonymous_variant 16/16
|
|
653
|
+
chr5 136633338 G A 1.0000 221
|
|
654
|
+
CTNNA1 chr5 138221989 G C 0.5190 210 NM_001903.5:c.1143+8G>C splice_region_variant:intron_variant
|
|
655
|
+
CTNNA1 chr5 138266546 G A 0.4715 193 NM_001903.5:c.2220G>A(p.(Ser740=)) NM_001903.5:c.2220G>A synonymous_variant 16/18
|
|
656
|
+
FGF1 chr5 142010380 G A 1.0000 217 NM_000800.5:c.-34-16654C>T intron_variant
|
|
657
|
+
CSF1R chr5 149447771 G A 0.3543 127 NM_001288705.3:c.1626+7C>T splice_region_variant:intron_variant
|
|
658
|
+
CSF1R chr5 149457678 G A 0.3641 184 NM_001288705.3:c.726C>T(p.(Thr242=)) NM_001288705.3:c.726C>T synonymous_variant 4/21
|
|
659
|
+
PDGFRB chr5 149493472 C T 1.0000 148 NM_002609.4:c.*1854G>A 3_prime_UTR_variant 23/23
|
|
660
|
+
PDGFRB chr5 149495395 T C 0.3636 154 NM_002609.4:c.3252A>G(p.(Pro1084=)) NM_002609.4:c.3252A>G synonymous_variant 23/23
|
|
661
|
+
PDGFRB chr5 149497177 T C 0.4571 140 NM_002609.4:c.3137+4A>G splice_region_variant:intron_variant
|
|
662
|
+
PDGFRB chr5 149497228 G A 0.5000 166 NM_002609.4:c.3090C>T(p.(Pro1030=)) NM_002609.4:c.3090C>T synonymous_variant 22/23
|
|
663
|
+
PDGFRB chr5 149518824 T G 0.3641 184 NM_002609.4:c.-6-2208A>C intron_variant
|
|
664
|
+
PDGFRB chr5 149522803 A G 0.4824 170 NM_002609.4:c.-6-6187T>C intron_variant
|
|
665
|
+
GABRA6 chr5 161113004 G A 0.5172 203 NM_000811.3:c.9G>A(p.(Ser3=)) NM_000811.3:c.9G>A synonymous_variant 1/9
|
|
666
|
+
GABRA6 chr5 161119071 G T 1.0000 224 NM_000811.3:c.951G>T(p.(Ala317=)) NM_000811.3:c.951G>T synonymous_variant 8/9
|
|
667
|
+
GABRA6 chr5 161119125 C G 1.0000 242 NM_000811.3:c.1005C>G(p.(Ala335=)) NM_000811.3:c.1005C>G synonymous_variant 8/9
|
|
668
|
+
GABRA6 chr5 161128761 C G 1.0000 151 NM_000811.3:c.1344C>G(p.(Val448=)) NM_000811.3:c.1344C>G synonymous_variant 9/9
|
|
669
|
+
chr5 174778678 A G 0.3187 251
|
|
670
|
+
FGFR4 chr5 176513247 C G 0.3241 145 upstream_gene_variant
|
|
671
|
+
FGFR4 chr5 176515591 A AC 0.3915 189 NM_213647.3:c.-53-958dup intron_variant
|
|
672
|
+
FGFR4 chr5 176515813 C CTGTG 0.2733 161 NM_213647.3:c.-53-736_-53-735insTGTG intron_variant
|
|
673
|
+
FGFR4 chr5 176515866 AG A 0.3684 190 NM_213647.3:c.-53-684del intron_variant
|
|
674
|
+
FGFR4 chr5 176517170 G A 0.3442 215 NM_213647.3:c.92-221G>A intron_variant
|
|
675
|
+
FGFR4 chr5 176517461 T G 0.3843 229 NM_213647.3:c.162T>G(p.(Arg54=)) NM_213647.3:c.162T>G synonymous_variant 3/18
|
|
676
|
+
FGFR4 chr5 176517797 C T 0.3366 202 NP_998812.1:p.(Pro136Leu) NM_213647.3:c.407C>T missense_variant 4/18
|
|
677
|
+
FGFR4 chr5 176518784 C T 0.3486 218 NM_213647.3:c.702C>T(p.(Arg234=)) NM_213647.3:c.702C>T synonymous_variant 6/18
|
|
678
|
+
FGFR4 chr5 176522728 C T 0.2903 248 NM_213647.3:c.1821+4C>T splice_region_variant:intron_variant
|
|
679
|
+
FGFR4 chr5 176523597 A G 0.2632 114 NM_213647.3:c.2016-8A>G splice_region_variant:intron_variant
|
|
680
|
+
NSD1 chr5 176721198 T C 1.0000 232 NM_022455.5:c.6829T>C(p.(Leu2277=)) NM_022455.5:c.6829T>C synonymous_variant 23/23
|
|
681
|
+
NSD1 chr5 176721272 G C 0.3739 230 NM_022455.5:c.6903G>C(p.(Gly2301=)) NM_022455.5:c.6903G>C synonymous_variant 23/23
|
|
682
|
+
DDX41 chr5 176940384 G A 1.0000 164 NM_016222.4:c.1200C>T(p.(Arg400=)) NM_016222.4:c.1200C>T synonymous_variant 11/17
|
|
683
|
+
DDX41 chr5 176940871 G C 1.0000 225 NM_016222.4:c.936-23C>G intron_variant
|
|
684
|
+
DDX41 chr5 176943296 C T 0.3581 215 NM_016222.4:c.291G>A(p.(Lys97=)) NM_016222.4:c.291G>A synonymous_variant 3/17
|
|
685
|
+
chr5 178690725 G A 0.6957 253
|
|
686
|
+
FLT4 chr5 180046344 G C 1.0000 151 NP_891555.2:p.(His890Gln) NM_182925.5:c.2670C>G missense_variant 19/30
|
|
687
|
+
FLT4 chr5 180046492 CAG C 1.0000 173 NM_182925.5:c.2648-128_2648-127del intron_variant
|
|
688
|
+
chr6 12059954 G A 0.4917 242
|
|
689
|
+
E2F3 chr6 20447293 A G 1.0000 224 NM_001949.5:c.394-32784A>G intron_variant
|
|
690
|
+
E2F3 chr6 20461302 T C 1.0000 294 NM_001949.5:c.394-18775T>C intron_variant
|
|
691
|
+
E2F3 chr6 20481825 T C 0.5116 344 NM_001949.5:c.725+169T>C intron_variant
|
|
692
|
+
E2F3 chr6 20487250 T G 0.5317 331 NM_001949.5:c.999+216T>G intron_variant
|
|
693
|
+
E2F3 chr6 20488201 A G 0.4808 339 NM_001949.5:c.1000-143A>G intron_variant
|
|
694
|
+
HIST1H3B chr6 26031868 G A 0.4403 134 NM_003537.4:c.*10C>T 3_prime_UTR_variant 1/1
|
|
695
|
+
HIST1H3C chr6 26044064 G A 0.4508 193 upstream_gene_variant
|
|
696
|
+
HIST1H3C chr6 26045929 T C 0.4517 259 NM_003531.3:c.291T>C(p.(Cys97=)) NM_003531.3:c.291T>C synonymous_variant 1/1
|
|
697
|
+
HIST1H1C chr6 26056549 A G 0.4419 172 NM_005319.4:c.108T>C(p.(Ser36=)) NM_005319.4:c.108T>C synonymous_variant 1/1
|
|
698
|
+
chr6 26127813 CT C 0.5019 269
|
|
699
|
+
HIST1H3H chr6 27778097 C T 0.4874 199 NM_003536.3:c.246C>T(p.(Asp82=)) NM_003536.3:c.246C>T synonymous_variant 1/1
|
|
700
|
+
HIST1H3I chr6 27839746 T C 0.5050 202 NM_003533.3:c.348A>G(p.(Lys116=)) NM_003533.3:c.348A>G synonymous_variant 1/1
|
|
701
|
+
HIST1H3J chr6 27858421 A G 0.4634 205 NM_003535.3:c.150T>C(p.(Arg50=)) NM_003535.3:c.150T>C synonymous_variant 1/1
|
|
702
|
+
HLA-A chr6 29910324 G C 0.5217 115 NM_002116.8:c.-7G>C 5_prime_UTR_variant 1/8
|
|
703
|
+
HLA-A chr6 29912398 A G 0.4412 102 NM_002116.8:c.1012+5A>G splice_region_variant:intron_variant
|
|
704
|
+
HLA-A chr6 29913067 T C 0.4673 107 NM_002116.8:c.1093+9T>C intron_variant
|
|
705
|
+
MDC1 chr6 30672326 T C 0.4440 250 NP_055456.2:p.(Gln1545Arg) NM_014641.3:c.4634A>G missense_variant 10/15
|
|
706
|
+
MDC1 chr6 30672342 A G 0.5038 260 NP_055456.2:p.(Ser1540Pro) NM_014641.3:c.4618T>C missense_variant 10/15
|
|
707
|
+
MDC1 chr6 30680111 T C 0.5113 221 NP_055456.2:p.(Ile536Met) NM_014641.3:c.1608A>G missense_variant 5/15
|
|
708
|
+
MDC1 chr6 30680916 C T 0.5051 293 NP_055456.2:p.(Arg268Lys) NM_014641.3:c.803G>A missense_variant 5/15
|
|
709
|
+
NOTCH4 chr6 32169145 G A 0.4670 212 NM_004557.4:c.3888C>T(p.(Ser1296=)) NM_004557.4:c.3888C>T synonymous_variant 22/30
|
|
710
|
+
NOTCH4 chr6 32172065 T G 1.0000 224 NM_004557.4:c.2967A>C(p.(Gly989=)) NM_004557.4:c.2967A>C synonymous_variant 19/30
|
|
711
|
+
NOTCH4 chr6 32180241 C T 0.4568 162 NM_004557.4:c.2680+10G>A intron_variant
|
|
712
|
+
NOTCH4 chr6 32184705 G A 1.0000 228 NM_004557.4:c.1861+17C>T intron_variant
|
|
713
|
+
NOTCH4 chr6 32190390 T G 0.4589 207 NP_004548.3:p.(Lys117Gln) NM_004557.4:c.349A>C missense_variant 3/30
|
|
714
|
+
NOTCH4 chr6 32190406 A G 0.4500 200 NM_004557.4:c.333T>C(p.(Gly111=)) NM_004557.4:c.333T>C synonymous_variant 3/30
|
|
715
|
+
FANCE chr6 35423662 A C 1.0000 176 NM_021922.3:c.387A>C(p.(Pro129=)) NM_021922.3:c.387A>C synonymous_variant 2/10
|
|
716
|
+
CDKN1A chr6 36645696 A G 0.4537 205 upstream_gene_variant
|
|
717
|
+
CDKN1A chr6 36648364 T C 0.3816 76 NM_000389.5:c.-6+1789T>C intron_variant
|
|
718
|
+
chr6 41924931 A G 0.4866 187
|
|
719
|
+
chr6 41943080 T C 0.4737 190
|
|
720
|
+
chr6 42013042 C T 0.4379 169
|
|
721
|
+
chr6 42013042 CGTTCAAT TGTTCAAC 0.4379 169
|
|
722
|
+
chr6 42013049 T C 1.0000 162
|
|
723
|
+
chr6 42013360 G T 1.0000 196
|
|
724
|
+
chr6 47821253 A AGAAG 0.4907 216
|
|
725
|
+
EPHA7 chr6 93967851 C T 0.3235 374 NM_004440.4:c.2076G>A(p.(Pro692=)) NM_004440.4:c.2076G>A synonymous_variant 11/17
|
|
726
|
+
EPHA7 chr6 93973569 A G 0.3686 293 NM_004440.4:c.1798+9T>C intron_variant
|
|
727
|
+
EPHA7 chr6 93982124 A G 1.0000 419 NM_004440.4:c.1341T>C(p.(Ser447=)) NM_004440.4:c.1341T>C synonymous_variant 6/17
|
|
728
|
+
EPHA7 chr6 94066478 G A 0.5985 406 NM_004440.4:c.1281C>T(p.(Ser427=)) NM_004440.4:c.1281C>T synonymous_variant 5/17
|
|
729
|
+
EPHA7 chr6 94067981 C T 0.6110 347 NM_004440.4:c.981G>A(p.(Ala327=)) NM_004440.4:c.981G>A synonymous_variant 4/17
|
|
730
|
+
EPHA7 chr6 94120219 G A 0.6255 275 NP_004431.1:p.(Pro278Ser) NM_004440.4:c.832C>T missense_variant:splice_region_variant 3/17
|
|
731
|
+
EPHA7 chr6 94120639 T C 0.6240 375 NP_004431.1:p.(Ile138Val) NM_004440.4:c.412A>G missense_variant 3/17
|
|
732
|
+
chr6 94537255 T C 1.0000 291
|
|
733
|
+
WISP3 chr6 112382313 G T 0.5294 289 NP_937882.2:p.(Gln56His) NM_198239.2:c.168G>T missense_variant 2/5
|
|
734
|
+
chr6 117093554 T TTC 0.6000 295
|
|
735
|
+
ROS1 chr6 117640002 C T 1.0000 362 NM_001378902.1:c.5923-587G>A intron_variant
|
|
736
|
+
ROS1 chr6 117654711 T C 1.0000 342 NM_001378902.1:c.5230+3624A>G intron_variant
|
|
737
|
+
ROS1 chr6 117661264 T C 1.0000 303 NM_001378902.1:c.5061+1034A>G intron_variant
|
|
738
|
+
ROS1 chr6 117678083 A G 1.0000 196 NM_001378902.1:c.3840-5T>C splice_region_variant:intron_variant
|
|
739
|
+
ROS1 chr6 117709037 C A 0.0233 343 NP_001365831.1:p.(Gln635His) NM_001378902.1:c.1905G>T missense_variant 14/44
|
|
740
|
+
MYB chr6 135524516 A G 1.0000 277 NM_001130173.2:c.2169+54A>G intron_variant
|
|
741
|
+
MYB chr6 135525396 G T 1.0000 305 NM_001130173.2:c.2169+934G>T intron_variant
|
|
742
|
+
MYB chr6 135525737 A G 1.0000 182 NM_001130173.2:c.2169+1275A>G intron_variant
|
|
743
|
+
MYB chr6 135525927 T C 1.0000 276 NM_001130173.2:c.2169+1465T>C intron_variant
|
|
744
|
+
MYB chr6 135526768 C T 1.0000 241 NM_001130173.2:c.2169+2306C>T intron_variant
|
|
745
|
+
MYB chr6 135528722 A G 1.0000 249 NM_001130173.2:c.2169+4260A>G intron_variant
|
|
746
|
+
MYB chr6 135529561 C T 0.9820 167 NM_001130173.2:c.2169+5099C>T intron_variant
|
|
747
|
+
MYB chr6 135531451 C G 1.0000 341 NM_001130173.2:c.2169+6989C>G intron_variant
|
|
748
|
+
MYB chr6 135531639 G T 1.0000 340 NM_001130173.2:c.2169+7177G>T intron_variant
|
|
749
|
+
MYB chr6 135531800 T C 1.0000 301 NM_001130173.2:c.2170-7202T>C intron_variant
|
|
750
|
+
MYB chr6 135532832 A G 1.0000 312 NM_001130173.2:c.2170-6170A>G intron_variant
|
|
751
|
+
MYB chr6 135533284 T G 1.0000 235 NM_001130173.2:c.2170-5718T>G intron_variant
|
|
752
|
+
MYB chr6 135534823 T C 1.0000 279 NM_001130173.2:c.2170-4179T>C intron_variant
|
|
753
|
+
MYB chr6 135535018 G A 1.0000 318 NM_001130173.2:c.2170-3984G>A intron_variant
|
|
754
|
+
MYB chr6 135535240 C T 1.0000 282 NM_001130173.2:c.2170-3762C>T intron_variant
|
|
755
|
+
MYB chr6 135535447 T C 1.0000 228 NM_001130173.2:c.2170-3555T>C intron_variant
|
|
756
|
+
MYB chr6 135536496 T C 1.0000 240 NM_001130173.2:c.2170-2506T>C intron_variant
|
|
757
|
+
MYB chr6 135536586 A G 1.0000 277 NM_001130173.2:c.2170-2416A>G intron_variant
|
|
758
|
+
MYB chr6 135537890 C G 0.9962 265 NM_001130173.2:c.2170-1112C>G intron_variant
|
|
759
|
+
MYB chr6 135537890 CTTTTCTA GTTTTCTG 0.9962 265 NM_001130173.2:c.2170-1112_2170-1105delinsGTTTTCTG intron_variant
|
|
760
|
+
MYB chr6 135537897 A G 1.0000 263 NM_001130173.2:c.2170-1105A>G intron_variant
|
|
761
|
+
MYB chr6 135538592 G A 0.4545 286 NM_001130173.2:c.2170-410G>A intron_variant
|
|
762
|
+
MYB chr6 135538639 A G 0.4271 288 NM_001130173.2:c.2170-363A>G intron_variant
|
|
763
|
+
IFNGR1 chr6 137540370 A G 0.6179 123 NM_000416.3:c.85+10T>C intron_variant
|
|
764
|
+
ZBTB2 chr6 151686905 C T 0.6070 201 NM_020861.3:c.1296G>A(p.(Glu432=)) NM_020861.3:c.1296G>A synonymous_variant 3/3
|
|
765
|
+
ESR1 chr6 152125444 T C 1.0000 214 upstream_gene_variant
|
|
766
|
+
ESR1 chr6 152129077 T C 0.6514 175 NM_000125.4:c.30T>C(p.(Ser10=)) NM_000125.4:c.30T>C synonymous_variant 1/8
|
|
767
|
+
ESR1 chr6 152129308 G C 0.6688 154 NM_000125.4:c.261G>C(p.(Ala87=)) NM_000125.4:c.261G>C synonymous_variant 1/8
|
|
768
|
+
ESR1 chr6 152164548 G C 0.5691 188 NM_000125.4:c.643+626G>C intron_variant
|
|
769
|
+
ESR1 chr6 152201875 T C 1.0000 243 NM_000125.4:c.729T>C(p.(Arg243=)) NM_000125.4:c.729T>C synonymous_variant 3/8
|
|
770
|
+
ESR1 chr6 152265522 G C 1.0000 265 NM_000125.4:c.975G>C(p.(Pro325=)) NM_000125.4:c.975G>C synonymous_variant 4/8
|
|
771
|
+
ESR1 chr6 152287140 GT G 1.0000 274 NM_000125.4:c.1096+21499del intron_variant
|
|
772
|
+
ESR1 chr6 152287142 TG C 1.0000 274 NM_000125.4:c.1096+21499_1096+21500delinsC intron_variant
|
|
773
|
+
ESR1 chr6 152287143 G C 1.0000 282 NM_000125.4:c.1096+21500G>C intron_variant
|
|
774
|
+
ESR1 chr6 152420095 G A 1.0000 237 NM_000125.4:c.1782G>A(p.(Thr594=)) NM_000125.4:c.1782G>A synonymous_variant 8/8
|
|
775
|
+
chr6 152697706 C T 1.0000 229
|
|
776
|
+
ARID1B chr6 157405930 G A 0.5572 271 NM_001374828.1:c.2382G>A(p.(Ala794=)) NM_001374828.1:c.2382G>A synonymous_variant 5/20
|
|
777
|
+
MAP3K4 chr6 161469774 G A 1.0000 378 NP_005913.3:p.(Arg157His) NM_005922.4:c.470G>A missense_variant 3/27
|
|
778
|
+
PRKN chr6 162992294 T A 0.4634 82 NM_004562.3:c.8-127789A>T intron_variant
|
|
779
|
+
QKI chr6 163836376 C T 0.4000 85 NM_006775.3:c.142+9C>T intron_variant
|
|
780
|
+
chr6 165045290 C T 1.0000 283
|
|
781
|
+
CARD11 chr7 2946461 T C 1.0000 214 NM_032415.7:c.3276A>G(p.(Arg1092=)) NM_032415.7:c.3276A>G synonymous_variant 25/25
|
|
782
|
+
chr7 4457003 C T 0.7034 290
|
|
783
|
+
PMS2 chr7 6036980 G C 1.0000 275 NM_000535.7:c.780C>G(p.(Ser260=)) NM_000535.7:c.780C>G synonymous_variant 7/15
|
|
784
|
+
PMS2 chr7 6037057 GA G 0.5667 143 NM_000535.7:c.706-4del splice_region_variant:intron_variant
|
|
785
|
+
ETV1 chr7 13931182 G A 0.3441 340 NM_004956.5:c.*4309C>T 3_prime_UTR_variant 14/14
|
|
786
|
+
ETV1 chr7 13931982 T A 0.3413 378 NM_004956.5:c.*3509A>T 3_prime_UTR_variant 14/14
|
|
787
|
+
ETV1 chr7 13932157 G A 0.3497 386 NM_004956.5:c.*3334C>T 3_prime_UTR_variant 14/14
|
|
788
|
+
ETV1 chr7 13932601 C T 0.3164 373 NM_004956.5:c.*2890G>A 3_prime_UTR_variant 14/14
|
|
789
|
+
ETV1 chr7 13946653 T C 0.3160 307 NM_004956.5:c.941-429A>G intron_variant
|
|
790
|
+
ETV1 chr7 13947289 G A 0.2950 383 NM_004956.5:c.941-1065C>T intron_variant
|
|
791
|
+
ETV1 chr7 13972307 C T 0.6452 341 NM_004956.5:c.555-933G>A intron_variant
|
|
792
|
+
ETV1 chr7 13974461 C T 0.6554 386 NM_004956.5:c.554+872G>A intron_variant
|
|
793
|
+
ETV1 chr7 13974563 G A 0.3429 420 NM_004956.5:c.554+770C>T intron_variant
|
|
794
|
+
ETV1 chr7 13975769 A G 0.3523 352 NM_004956.5:c.366-248T>C intron_variant
|
|
795
|
+
ETV1 chr7 13976258 G T 0.3615 379 NM_004956.5:c.366-737C>A intron_variant
|
|
796
|
+
ETV1 chr7 13976833 T G 0.3458 321 NM_004956.5:c.366-1312A>C intron_variant
|
|
797
|
+
ETV1 chr7 13976995 C A 0.3686 369 NM_004956.5:c.366-1474G>T intron_variant
|
|
798
|
+
ETV1 chr7 13978006 A C 0.2798 336 NM_004956.5:c.365+736T>G intron_variant
|
|
799
|
+
ETV1 chr7 13978645 C T 0.3960 346 NM_004956.5:c.365+97G>A intron_variant
|
|
800
|
+
ETV1 chr7 13978645 CGTT TGTA 0.3907 343 NM_004956.5:c.365+94_365+97delinsTACA intron_variant
|
|
801
|
+
ETV1 chr7 13978648 T A 0.3907 343 NM_004956.5:c.365+94A>T intron_variant
|
|
802
|
+
ETV1 chr7 13978809 T C 0.3597 392 NP_004947.2:p.(Ser100Gly) NM_004956.5:c.298A>G missense_variant 7/14
|
|
803
|
+
ETV1 chr7 13979225 G A 0.3175 337 NM_004956.5:c.236-354C>T intron_variant
|
|
804
|
+
ETV1 chr7 13979225 GA AC 0.3121 330 NM_004956.5:c.236-355_236-354delinsGT intron_variant
|
|
805
|
+
ETV1 chr7 13979226 A C 0.3121 330 NM_004956.5:c.236-355T>G intron_variant
|
|
806
|
+
ETV1 chr7 13979578 C T 0.3480 319 NM_004956.5:c.236-707G>A intron_variant
|
|
807
|
+
ETV1 chr7 13979611 G A 0.3576 330 NM_004956.5:c.236-740C>T intron_variant
|
|
808
|
+
ETV1 chr7 13980155 C T 0.3228 347 NM_004956.5:c.236-1284G>A intron_variant
|
|
809
|
+
ETV1 chr7 13980418 T C 0.6069 346 NM_004956.5:c.236-1547A>G intron_variant
|
|
810
|
+
ETV1 chr7 13981263 A G 0.3259 405 NM_004956.5:c.236-2392T>C intron_variant
|
|
811
|
+
ETV1 chr7 13981573 C G 0.3509 379 NM_004956.5:c.236-2702G>C intron_variant
|
|
812
|
+
ETV1 chr7 13981573 CTGTGTGTAG GTGTGTGTAC 0.3213 361 NM_004956.5:c.236-2711_236-2702delinsGTACACACAC intron_variant
|
|
813
|
+
ETV1 chr7 13981582 G C 0.3213 361 NM_004956.5:c.236-2711C>G intron_variant
|
|
814
|
+
ETV1 chr7 13981686 T C 0.5238 63 NM_004956.5:c.236-2815A>G intron_variant
|
|
815
|
+
ETV1 chr7 13981748 A G 0.3158 19 NM_004956.5:c.236-2877T>C intron_variant
|
|
816
|
+
ETV1 chr7 13982046 C T 0.3279 369 NM_004956.5:c.236-3175G>A intron_variant
|
|
817
|
+
ETV1 chr7 13982046 CTTTAGGTTCAGGGA TTTTAGGTTCAGGGG 0.3279 369 NM_004956.5:c.236-3189_236-3175delinsCCCCTGAACCTAAAA intron_variant
|
|
818
|
+
ETV1 chr7 13982060 A G 0.3398 362 NM_004956.5:c.236-3189T>C intron_variant
|
|
819
|
+
ETV1 chr7 13982420 A C 0.3533 300 NM_004956.5:c.236-3549T>G intron_variant
|
|
820
|
+
ETV1 chr7 13983369 T A 1.0000 420 NM_004956.5:c.236-4498A>T intron_variant
|
|
821
|
+
ETV1 chr7 13983875 C T 1.0000 366 NM_004956.5:c.236-5004G>A intron_variant
|
|
822
|
+
ETV1 chr7 13984918 T A 0.6440 368 NM_004956.5:c.236-6047A>T intron_variant
|
|
823
|
+
ETV1 chr7 13988247 G C 1.0000 354 NM_004956.5:c.236-9376C>G intron_variant
|
|
824
|
+
ETV1 chr7 13988523 C A 0.3577 383 NM_004956.5:c.236-9652G>T intron_variant
|
|
825
|
+
ETV1 chr7 13990943 C T 0.6420 405 NM_004956.5:c.236-12072G>A intron_variant
|
|
826
|
+
ETV1 chr7 13990992 A G 0.6534 378 NM_004956.5:c.236-12121T>C intron_variant
|
|
827
|
+
ETV1 chr7 13991221 T C 0.6206 369 NM_004956.5:c.236-12350A>G intron_variant
|
|
828
|
+
ETV1 chr7 13991828 T G 0.6483 344 NM_004956.5:c.236-12957A>C intron_variant
|
|
829
|
+
ETV1 chr7 13991853 C G 0.6579 342 NM_004956.5:c.236-12982G>C intron_variant
|
|
830
|
+
ETV1 chr7 13992233 T A 0.6437 334 NM_004956.5:c.236-13362A>T intron_variant
|
|
831
|
+
ETV1 chr7 13992460 A G 0.6676 370 NM_004956.5:c.236-13589T>C intron_variant
|
|
832
|
+
ETV1 chr7 14000709 T TG 0.6045 440 NM_004956.5:c.235+16342dup intron_variant
|
|
833
|
+
ETV1 chr7 14004670 C T 0.5988 344 NM_004956.5:c.235+12382G>A intron_variant
|
|
834
|
+
ETV1 chr7 14004710 C T 0.6091 353 NM_004956.5:c.235+12342G>A intron_variant
|
|
835
|
+
ETV1 chr7 14004908 T C 0.4077 390 NM_004956.5:c.235+12144A>G intron_variant
|
|
836
|
+
ETV1 chr7 14006229 G T 0.6369 314 NM_004956.5:c.235+10823C>A intron_variant
|
|
837
|
+
ETV1 chr7 14007302 C G 0.5965 347 NM_004956.5:c.235+9750G>C intron_variant
|
|
838
|
+
ETV1 chr7 14007665 T C 0.6042 288 NM_004956.5:c.235+9387A>G intron_variant
|
|
839
|
+
ETV1 chr7 14008579 T C 0.6181 309 NM_004956.5:c.235+8473A>G intron_variant
|
|
840
|
+
ETV1 chr7 14008626 C T 0.6170 342 NM_004956.5:c.235+8426G>A intron_variant
|
|
841
|
+
ETV1 chr7 14008831 A C 0.6254 347 NM_004956.5:c.235+8221T>G intron_variant
|
|
842
|
+
ETV1 chr7 14009869 G A 0.6706 170 NM_004956.5:c.235+7183C>T intron_variant
|
|
843
|
+
ETV1 chr7 14010504 G A 0.6361 327 NM_004956.5:c.235+6548C>T intron_variant
|
|
844
|
+
ETV1 chr7 14011048 T G 0.6489 376 NM_004956.5:c.235+6004A>C intron_variant
|
|
845
|
+
ETV1 chr7 14011671 G T 0.5947 227 NM_004956.5:c.235+5381C>A intron_variant
|
|
846
|
+
ETV1 chr7 14011710 G A 0.5766 248 NM_004956.5:c.235+5342C>T intron_variant
|
|
847
|
+
ETV1 chr7 14011833 C T 0.6032 378 NM_004956.5:c.235+5219G>A intron_variant
|
|
848
|
+
ETV1 chr7 14012176 C A 0.6138 334 NM_004956.5:c.235+4876G>T intron_variant
|
|
849
|
+
ETV1 chr7 14013219 A G 0.5941 340 NM_004956.5:c.235+3833T>C intron_variant
|
|
850
|
+
ETV1 chr7 14013328 A T 0.6491 285 NM_004956.5:c.235+3724T>A intron_variant
|
|
851
|
+
ETV1 chr7 14013452 G A 0.6170 342 NM_004956.5:c.235+3600C>T intron_variant
|
|
852
|
+
ETV1 chr7 14013498 T A 0.3708 329 NM_004956.5:c.235+3554A>T intron_variant
|
|
853
|
+
ETV1 chr7 14013604 C T 0.6124 338 NM_004956.5:c.235+3448G>A intron_variant
|
|
854
|
+
ETV1 chr7 14030818 C T 0.6216 222 upstream_gene_variant
|
|
855
|
+
IKZF1 chr7 50467767 C A 0.6769 260 NM_006060.6:c.1002C>A(p.(Pro334=)) NM_006060.6:c.1002C>A synonymous_variant 8/8
|
|
856
|
+
EGFR chr7 55233597 G T 0.6203 187 NM_005228.5:c.1880+467G>T intron_variant
|
|
857
|
+
EGFR chr7 55243125 ATCT A 0.6166 193 NM_005228.5:c.2283+617_2283+619del intron_variant
|
|
858
|
+
EGFR chr7 55266417 T C 1.0000 204 NM_005228.5:c.2709T>C(p.(Thr903=)) NM_005228.5:c.2709T>C synonymous_variant 23/28
|
|
859
|
+
EGFR chr7 55272463 A G 0.3188 320 NM_005228.5:c.3272-486A>G intron_variant
|
|
860
|
+
MAGI2 chr7 77756580 T C 1.0000 207 NM_012301.4:c.3357A>G(p.(Leu1119=)) NM_012301.4:c.3357A>G synonymous_variant 19/22
|
|
861
|
+
MAGI2 chr7 77756724 C T 1.0000 258 NM_012301.4:c.3213G>A(p.(Ser1071=)) NM_012301.4:c.3213G>A synonymous_variant 19/22
|
|
862
|
+
MAGI2 chr7 78119109 C T 0.4483 261 NM_012301.4:c.1014G>A(p.(Lys338=)) NM_012301.4:c.1014G>A synonymous_variant 6/22
|
|
863
|
+
HGF chr7 81346685 T C 0.4733 262 NM_000601.6:c.1272-4A>G splice_region_variant:intron_variant
|
|
864
|
+
CUX1 chr7 101713590 T C 0.4853 137 NM_181552.4:c.190-29T>C intron_variant
|
|
865
|
+
CUX1 chr7 101755060 A G 0.4300 207 NM_181552.4:c.607+6A>G splice_region_variant:intron_variant
|
|
866
|
+
CUX1 chr7 101758564 C T 0.4378 249 NM_181552.4:c.674+11C>T intron_variant
|
|
867
|
+
CUX1 chr7 101837149 G A 0.4554 303 NM_181552.4:c.1104G>A(p.(Pro368=)) NM_181552.4:c.1104G>A synonymous_variant 13/24
|
|
868
|
+
CUX1 chr7 101844851 A G 0.4778 316 NM_181552.4:c.2274A>G(p.(Pro758=)) NM_181552.4:c.2274A>G synonymous_variant 18/24
|
|
869
|
+
CUX1 chr7 101892328 C T 0.5033 151 NM_181552.4:c.*6C>T 3_prime_UTR_variant 24/24
|
|
870
|
+
chr7 101916647 A G 1.0000 271
|
|
871
|
+
chr7 101917521 G A 1.0000 260
|
|
872
|
+
chr7 101923315 T TC 1.0000 156
|
|
873
|
+
chr7 101926087 G T 1.0000 133
|
|
874
|
+
PIK3CG chr7 106508978 A G 0.5134 298 NM_001282426.2:c.972A>G(p.(Pro324=)) NM_001282426.2:c.972A>G synonymous_variant 2/11
|
|
875
|
+
PIK3CG chr7 106508978 ACTGGTGGAT GCTGGTGGAC 0.5134 298 NM_001282426.2:c.972_981delinsGCTGGTGGAC(p.(Pro324=)) NM_001282426.2:c.972_981delinsGCTGGTGGAC synonymous_variant 2/11
|
|
876
|
+
PIK3CG chr7 106508987 T C 1.0000 283 NM_001282426.2:c.981T>C(p.(Asp327=)) NM_001282426.2:c.981T>C synonymous_variant 2/11
|
|
877
|
+
MET chr7 116435768 C T 1.0000 317 NM_000245.4:c.3858C>T(p.(Asp1286=)) NM_000245.4:c.3858C>T synonymous_variant 20/21
|
|
878
|
+
MET chr7 116436022 G A 1.0000 338 NM_000245.4:c.4017G>A(p.(Ala1339=)) NM_000245.4:c.4017G>A synonymous_variant 21/21
|
|
879
|
+
MET chr7 116436097 G A 1.0000 314 NM_000245.4:c.4092G>A(p.(Pro1364=)) NM_000245.4:c.4092G>A synonymous_variant 21/21
|
|
880
|
+
SMO chr7 128846328 G C 1.0000 228 NM_005631.5:c.1164G>C(p.(Gly388=)) NM_005631.5:c.1164G>C synonymous_variant 6/12
|
|
881
|
+
chr7 137029838 T C 1.0000 291
|
|
882
|
+
BRAF chr7 140487881 T C 0.5633 403 NM_004333.6:c.1141-497A>G intron_variant
|
|
883
|
+
BRAF chr7 140492904 A G 0.4230 357 NM_004333.6:c.1140+1204T>C intron_variant
|
|
884
|
+
EZH2 chr7 148543693 TA T 0.9627 166 NM_004456.5:c.118-4del splice_region_variant:intron_variant
|
|
885
|
+
RHEB chr7 151168534 G A 0.4636 151 NM_005614.4:c.333-7C>T splice_region_variant:intron_variant
|
|
886
|
+
chr7 155990813 T C 1.0000 310
|
|
887
|
+
chr8 1375610 G A 0.5372 188
|
|
888
|
+
chr8 19089779 T TAAGG 0.4624 173
|
|
889
|
+
NKX3-1 chr8 23536098 T C 0.4619 210 downstream_gene_variant
|
|
890
|
+
NKX3-1 chr8 23538803 G A 0.4444 171 NM_006167.4:c.636C>T(p.(Ser212=)) NM_006167.4:c.636C>T synonymous_variant 2/2
|
|
891
|
+
chr8 28411072 T C 1.0000 193
|
|
892
|
+
NRG1 chr8 32405979 T C 1.0000 102 NM_013964.5:c.-266T>C 5_prime_UTR_variant 1/12
|
|
893
|
+
NRG1 chr8 32406148 C A 1.0000 71 NM_013964.5:c.-97C>A 5_prime_UTR_variant 1/12
|
|
894
|
+
NRG1 chr8 32586085 T C 0.4294 170 NM_013964.5:c.632+489T>C intron_variant
|
|
895
|
+
ADGRA2 chr8 37699195 C G 0.5493 71 NM_032777.10:c.3339C>G(p.(Gly1113=)) NM_032777.10:c.3339C>G synonymous_variant 19/19
|
|
896
|
+
ADGRA2 chr8 37699516 C T 0.5794 126 NM_032777.10:c.3660C>T(p.(Gly1220=)) NM_032777.10:c.3660C>T synonymous_variant 19/19
|
|
897
|
+
KAT6A chr8 41794934 C T 1.0000 402 NM_006766.5:c.3192G>A(p.(Thr1064=)) NM_006766.5:c.3192G>A synonymous_variant 16/17
|
|
898
|
+
PRKDC chr8 48846519 T C 1.0000 286 NM_006904.7:c.1623+6A>G splice_region_variant:intron_variant
|
|
899
|
+
LYN chr8 56864585 A G 0.0590 322 NP_002341.1:p.(Tyr183Cys) NM_002350.4:c.548A>G missense_variant 7/13
|
|
900
|
+
LYN chr8 56866452 G A 0.4000 365 NM_002350.4:c.699G>A(p.(Lys233=)) NM_002350.4:c.699G>A synonymous_variant 8/13
|
|
901
|
+
PREX2 chr8 68993013 A G 0.6613 375 NM_024870.4:c.1818A>G(p.(Gly606=)) NM_024870.4:c.1818A>G synonymous_variant 17/40
|
|
902
|
+
PREX2 chr8 68993013 AT GC 0.6533 375 NM_024870.4:c.1818_1819delinsGC(p.(Gly606=)) NM_024870.4:c.1818_1819delinsGC synonymous_variant 17/40
|
|
903
|
+
PREX2 chr8 68993014 T C 0.6533 375 NM_024870.4:c.1819T>C(p.(Leu607=)) NM_024870.4:c.1819T>C synonymous_variant 17/40
|
|
904
|
+
PREX2 chr8 68995468 C T 0.6555 328 NM_024870.4:c.1879-7C>T splice_region_variant:intron_variant
|
|
905
|
+
PREX2 chr8 68995633 A G 0.6888 347 NM_024870.4:c.2027+10A>G intron_variant
|
|
906
|
+
PREX2 chr8 69136871 T A 0.3150 419 NM_024870.4:c.4775+10T>A intron_variant
|
|
907
|
+
PREX2 chr8 69143589 A G 0.3092 414 NM_024870.4:c.4797A>G(p.(Pro1599=)) NM_024870.4:c.4797A>G synonymous_variant 40/40
|
|
908
|
+
NBN chr8 90958422 T C 0.2349 298 NM_002485.5:c.2016A>G(p.(Pro672=)) NM_002485.5:c.2016A>G synonymous_variant 13/16
|
|
909
|
+
NBN chr8 90958530 T C 0.2440 250 NM_002485.5:c.1915-7A>G splice_region_variant:intron_variant
|
|
910
|
+
NBN chr8 90967711 A G 0.2168 369 NM_002485.5:c.1197T>C(p.(Asp399=)) NM_002485.5:c.1197T>C synonymous_variant 10/16
|
|
911
|
+
NBN chr8 90990479 C G 0.2238 344 NP_002476.2:p.(Glu185Gln) NM_002485.5:c.553G>C missense_variant 5/16
|
|
912
|
+
NBN chr8 90995019 C T 0.2411 336 NM_002485.5:c.102G>A(p.(Leu34=)) NM_002485.5:c.102G>A synonymous_variant 2/16
|
|
913
|
+
chr8 119947810 C T 0.8152 92
|
|
914
|
+
MYC chr8 128757577 T A 1.0000 398 downstream_gene_variant
|
|
915
|
+
chr8 144656754 T C 1.0000 207
|
|
916
|
+
chr8 144656754 TACCCAAAGCCG CACCCAAAGCCA 1.0000 207
|
|
917
|
+
chr8 144656765 G A 1.0000 206
|
|
918
|
+
RECQL4 chr8 145737286 G A 0.9959 241 NM_004260.4:c.3393+8C>T splice_region_variant:intron_variant
|
|
919
|
+
RECQL4 chr8 145737636 A G 1.0000 337 NM_004260.4:c.3127T>C(p.(Leu1043=)) NM_004260.4:c.3127T>C synonymous_variant 18/21
|
|
920
|
+
RECQL4 chr8 145737816 C T 1.0000 281 NP_004251.4:p.(Arg1005Gln) NM_004260.4:c.3014G>A missense_variant 17/21
|
|
921
|
+
RECQL4 chr8 145741702 C G 1.0000 298 NP_004251.4:p.(Glu267Asp) NM_004260.4:c.801G>C missense_variant 5/21
|
|
922
|
+
RECQL4 chr8 145741765 G A 1.0000 268 NM_004260.4:c.738C>T(p.(Ser246=)) NM_004260.4:c.738C>T synonymous_variant 5/21
|
|
923
|
+
RECQL4 chr8 145742514 A G 1.0000 229 NP_004251.4:p.(Ser92Pro) NM_004260.4:c.274T>C missense_variant 4/21
|
|
924
|
+
RECQL4 chr8 145742879 T C 1.0000 127 NM_004260.4:c.132A>G(p.(Glu44=)) NM_004260.4:c.132A>G synonymous_variant 3/21
|
|
925
|
+
JAK2 chr9 4994387 G T 0.7422 225 NM_004972.4:c.-26+8365G>T intron_variant
|
|
926
|
+
JAK2 chr9 5003338 G A 0.7034 327 NM_004972.4:c.-26+17316G>A intron_variant
|
|
927
|
+
PDCD1LG2 chr9 5557672 T C 1.0000 272 NP_079515.2:p.(Phe229Ser) NM_025239.4:c.686T>C missense_variant 5/7
|
|
928
|
+
PTPRD chr9 8465598 A G 0.7076 301 NM_002839.4:c.3582T>C(p.(Ala1194=)) NM_002839.4:c.3582T>C synonymous_variant 32/46
|
|
929
|
+
CDKN2A chr9 21975017 C T 0.7696 204 upstream_gene_variant
|
|
930
|
+
CDKN2B chr9 22012051 T C 0.2723 235 upstream_gene_variant
|
|
931
|
+
chr9 27985938 C T 0.7631 325
|
|
932
|
+
FANCG chr9 35074917 T C 0.7166 187 NM_004629.2:c.1636+7A>G splice_region_variant:intron_variant
|
|
933
|
+
PAX5 chr9 36840623 G A 0.3407 226 NM_016734.3:c.1110C>T(p.(Tyr370=)) NM_016734.3:c.1110C>T synonymous_variant 10/10
|
|
934
|
+
GNAQ chr9 80343587 G GA 0.4434 118 NM_002072.5:c.736-5dup splice_region_variant:intron_variant
|
|
935
|
+
NTRK2 chr9 87283416 C A 1.0000 148 upstream_gene_variant
|
|
936
|
+
NTRK2 chr9 87285595 C G 1.0000 171 NM_006180.6:c.-69C>G 5_prime_UTR_variant 2/19
|
|
937
|
+
NTRK2 chr9 87358241 C T 0.5395 152 NM_006180.6:c.1195+1399C>T intron_variant
|
|
938
|
+
NTRK2 chr9 87358664 T C 1.0000 225 NM_006180.6:c.1196-1224T>C intron_variant
|
|
939
|
+
NTRK2 chr9 87425973 G A 1.0000 188 NM_006180.6:c.1397-49982G>A intron_variant
|
|
940
|
+
NTRK2 chr9 87426187 C T 0.5914 301 NM_006180.6:c.1397-49768C>T intron_variant
|
|
941
|
+
NTRK2 chr9 87426298 A G 0.6029 272 NM_006180.6:c.1397-49657A>G intron_variant
|
|
942
|
+
NTRK2 chr9 87428866 C T 0.3633 245 NM_006180.6:c.1397-47089C>T intron_variant
|
|
943
|
+
NTRK2 chr9 87429290 A G 1.0000 312 NM_006180.6:c.1397-46665A>G intron_variant
|
|
944
|
+
NTRK2 chr9 87430491 T C 0.6077 181 NM_006180.6:c.1397-45464T>C intron_variant
|
|
945
|
+
NTRK2 chr9 87430521 T A 0.9950 199 NM_006180.6:c.1397-45434T>A intron_variant
|
|
946
|
+
NTRK2 chr9 87477084 G T 0.3964 222 NM_006180.6:c.1444+1082G>T intron_variant
|
|
947
|
+
NTRK2 chr9 87478135 A C 0.6027 219 NM_006180.6:c.1444+2133A>C intron_variant
|
|
948
|
+
NTRK2 chr9 87478172 T G 0.3803 213 NM_006180.6:c.1444+2170T>G intron_variant
|
|
949
|
+
NTRK2 chr9 87478710 T C 0.6217 230 NM_006180.6:c.1444+2708T>C intron_variant
|
|
950
|
+
NTRK2 chr9 87479105 G A 1.0000 215 NM_006180.6:c.1445-3053G>A intron_variant
|
|
951
|
+
NTRK2 chr9 87479337 A G 0.6151 265 NM_006180.6:c.1445-2821A>G intron_variant
|
|
952
|
+
NTRK2 chr9 87480759 C G 0.5946 259 NM_006180.6:c.1445-1399C>G intron_variant
|
|
953
|
+
NTRK2 chr9 87480828 T C 0.6190 231 NM_006180.6:c.1445-1330T>C intron_variant
|
|
954
|
+
NTRK2 chr9 87488402 C A 0.6485 239 NM_006180.6:c.1633+6056C>A intron_variant
|
|
955
|
+
NTRK2 chr9 87488718 A G 0.5463 227 NM_006180.6:c.1633+6372A>G intron_variant
|
|
956
|
+
NTRK2 chr9 87489785 G C 0.6226 212 NM_006180.6:c.1633+7439G>C intron_variant
|
|
957
|
+
NTRK2 chr9 87490164 G A 0.6208 298 NM_006180.6:c.1633+7818G>A intron_variant
|
|
958
|
+
NTRK2 chr9 87490546 C G 0.6230 244 NM_006180.6:c.1633+8200C>G intron_variant
|
|
959
|
+
NTRK2 chr9 87491253 C T 0.2824 262 NM_006180.6:c.1633+8907C>T intron_variant
|
|
960
|
+
NTRK2 chr9 87491480 A C 0.6067 267 NM_006180.6:c.1633+9134A>C intron_variant
|
|
961
|
+
NTRK2 chr9 87492028 T C 0.6106 226 NM_006180.6:c.1633+9682T>C intron_variant
|
|
962
|
+
NTRK2 chr9 87492610 C T 0.5924 238 NM_006180.6:c.1633+10264C>T intron_variant
|
|
963
|
+
SYK chr9 93639846 C G 0.4155 219 NM_003177.7:c.1182-7C>G splice_region_variant:intron_variant
|
|
964
|
+
PTCH1 chr9 98229389 C G 0.3553 76 NM_000264.5:c.2560+9G>C intron_variant
|
|
965
|
+
PTCH1 chr9 98238358 G A 0.2757 214 NM_000264.5:c.1686C>T(p.(Ala562=)) NM_000264.5:c.1686C>T synonymous_variant 12/24
|
|
966
|
+
PTCH1 chr9 98269418 CG C 0.3759 141 NM_000264.5:c.202-538del intron_variant
|
|
967
|
+
chr9 126881448 C T 1.0000 236
|
|
968
|
+
PPP6C chr9 127951863 G A 0.6667 144 NM_002721.5:c.75+60C>T intron_variant
|
|
969
|
+
ABL1 chr9 133710804 T C 1.0000 94 NM_005157.6:c.-30T>C 5_prime_UTR_variant 1/11
|
|
970
|
+
ABL1 chr9 133710804 TTCCGGCCCCCGACGT CTCCGGCCCCCGACGTC 1.0000 94 NM_005157.6:c.-30_-15delinsCTCCGGCCCCCGACGTC 5_prime_UTR_variant 1/11
|
|
971
|
+
ABL1 chr9 133710819 T TC 1.0000 126 NM_005157.6:c.-15_-14insC 5_prime_UTR_variant 1/11
|
|
972
|
+
ABL1 chr9 133755528 A G 0.2613 287 NM_005157.6:c.1497A>G(p.(Glu499=)) NM_005157.6:c.1497A>G synonymous_variant 9/11
|
|
973
|
+
ABL1 chr9 133760029 C G 0.2078 308 NM_005157.6:c.2352C>G(p.(Pro784=)) NM_005157.6:c.2352C>G synonymous_variant 11/11
|
|
974
|
+
ABL1 chr9 133761001 A G 1.0000 320 NM_005157.6:c.3324A>G(p.(Pro1108=)) NM_005157.6:c.3324A>G synonymous_variant 11/11
|
|
975
|
+
ABL1 chr9 133761883 T C 0.7705 305 NM_005157.6:c.*813T>C 3_prime_UTR_variant 11/11
|
|
976
|
+
ABL1 chr9 133761992 G C 0.7452 310 NM_005157.6:c.*922G>C 3_prime_UTR_variant 11/11
|
|
977
|
+
ABL1 chr9 133762433 G A 0.8118 255 NM_005157.6:c.*1363G>A 3_prime_UTR_variant 11/11
|
|
978
|
+
ABL1 chr9 133762553 A G 1.0000 278 NM_005157.6:c.*1483A>G 3_prime_UTR_variant 11/11
|
|
979
|
+
ABL1 chr9 133762553 ACCCCT GCCCCC 0.2100 281 NM_005157.6:c.*1483_*1488delinsGCCCCC 3_prime_UTR_variant 11/11
|
|
980
|
+
ABL1 chr9 133762558 T C 0.2100 281 NM_005157.6:c.*1488T>C 3_prime_UTR_variant 11/11
|
|
981
|
+
ABL1 chr9 133762590 G A 0.2416 327 NM_005157.6:c.*1520G>A 3_prime_UTR_variant 11/11
|
|
982
|
+
ABL1 chr9 133762826 C T 0.2155 297 NM_005157.6:c.*1756C>T 3_prime_UTR_variant 11/11
|
|
983
|
+
TSC1 chr9 135772717 G A 0.2730 337 NM_000368.5:c.2829C>T(p.(Ala943=)) NM_000368.5:c.2829C>T synonymous_variant 22/23
|
|
984
|
+
chr9 137417305 A G 1.0000 292
|
|
985
|
+
chr9 137417305 AAGG GAGT 1.0000 292
|
|
986
|
+
chr9 137417308 G T 1.0000 301
|
|
987
|
+
NOTCH1 chr9 139391636 G A 0.2164 365 NM_017617.5:c.6555C>T(p.(Asp2185=)) NM_017617.5:c.6555C>T synonymous_variant 34/34
|
|
988
|
+
NOTCH1 chr9 139410424 A G 1.0000 179 NM_017617.5:c.1669+9T>C intron_variant
|
|
989
|
+
GATA3 chr10 8115908 G A 0.2532 470 NM_001002295.2:c.1257G>A(p.(Thr419=)) NM_001002295.2:c.1257G>A synonymous_variant 6/6
|
|
990
|
+
chr10 17193346 A G 0.3209 402
|
|
991
|
+
ANKRD26 chr10 27326999 T C 0.5537 298 NM_014915.3:c.2376-16A>G intron_variant
|
|
992
|
+
ANKRD26 chr10 27389197 T C 1.0000 74 NP_055730.2:p.(Gln20Arg) NM_014915.3:c.59A>G missense_variant 1/34
|
|
993
|
+
KIF5B chr10 32298840 C T 0.5016 305 NM_004521.3:c.*1625G>A 3_prime_UTR_variant 26/26
|
|
994
|
+
KIF5B chr10 32300413 G GT 0.5092 218 NM_004521.3:c.*51dup 3_prime_UTR_variant 26/26
|
|
995
|
+
KIF5B chr10 32311969 A G 0.9967 305 NM_004521.3:c.1726-5T>C splice_region_variant:intron_variant
|
|
996
|
+
KIF5B chr10 32345138 A G 0.5181 166 NM_004521.3:c.-237T>C 5_prime_UTR_variant 1/26
|
|
997
|
+
KIF5B chr10 32345345 T C 0.3968 63 NM_004521.3:c.-444A>G 5_prime_UTR_variant 1/26
|
|
998
|
+
RET chr10 43576910 G T 0.5099 253 NM_020975.6:c.73+4131G>T intron_variant
|
|
999
|
+
RET chr10 43595968 A G 0.5439 285 NM_020975.6:c.135A>G(p.(Ala45=)) NM_020975.6:c.135A>G synonymous_variant 2/20
|
|
1000
|
+
RET chr10 43607756 G A 0.5085 293 NM_020975.6:c.1648+84G>A intron_variant
|
|
1001
|
+
RET chr10 43608522 G C 0.5088 285 NM_020975.6:c.1759+111G>C intron_variant
|
|
1002
|
+
RET chr10 43610366 G A 0.4760 250 NM_020975.6:c.2136+182G>A intron_variant
|
|
1003
|
+
RET chr10 43610455 T C 0.4701 251 NM_020975.6:c.2136+271T>C intron_variant
|
|
1004
|
+
RET chr10 43610558 C T 0.4760 271 NM_020975.6:c.2136+374C>T intron_variant
|
|
1005
|
+
RET chr10 43611708 A G 0.5216 301 NM_020975.6:c.2137-324A>G intron_variant
|
|
1006
|
+
RET chr10 43611865 T C 0.5053 281 NM_020975.6:c.2137-167T>C intron_variant
|
|
1007
|
+
RET chr10 43612226 C T 0.4483 174 NM_020975.6:c.2284+47C>T intron_variant
|
|
1008
|
+
RET chr10 43612609 C T 0.5125 281 NM_020975.6:c.2284+430C>T intron_variant
|
|
1009
|
+
RET chr10 43613843 G T 0.4943 261 NM_020975.6:c.2307G>T(p.(Leu769=)) NM_020975.6:c.2307G>T synonymous_variant 13/20
|
|
1010
|
+
RET chr10 43615037 C A 0.5607 280 NM_020975.6:c.2451C>A(p.(Arg817=)) NM_020975.6:c.2451C>A synonymous_variant 14/20
|
|
1011
|
+
RET chr10 43622217 T C 0.4517 321 NM_020975.6:c.3187+47T>C intron_variant
|
|
1012
|
+
RET chr10 43622368 T A 0.4965 288 NM_020975.6:c.3187+198T>A intron_variant
|
|
1013
|
+
RET chr10 43622933 T C 0.4653 245 NM_020975.6:c.3188-627T>C intron_variant
|
|
1014
|
+
TET1 chr10 70332580 A G 0.6129 217 NP_085128.2:p.(Asp162Gly) NM_030625.3:c.485A>G missense_variant 2/12
|
|
1015
|
+
TET1 chr10 70405855 A G 1.0000 303 NP_085128.2:p.(Ile1123Met) NM_030625.3:c.3369A>G missense_variant 4/12
|
|
1016
|
+
PTEN chr10 89705429 G C 1.0000 181 NM_000314.8:c.493-6446G>C intron_variant
|
|
1017
|
+
PTEN chr10 89711922 C G 0.1347 193 NP_000305.3:p.(Tyr180Ter) NM_000314.8:c.540C>G stop_gained 6/9
|
|
1018
|
+
FAS chr10 90771829 T C 0.5274 201 NM_000043.6:c.642T>C(p.(Thr214=)) NM_000043.6:c.642T>C synonymous_variant 7/9
|
|
1019
|
+
SMC3 chr10 112356331 G A 1.0000 143 NM_005445.4:c.2116+23G>A intron_variant
|
|
1020
|
+
SMC3 chr10 112361870 A G 1.0000 308 NM_005445.4:c.3039A>G(p.(Ser1013=)) NM_005445.4:c.3039A>G synonymous_variant 25/29
|
|
1021
|
+
chr10 118506899 G A 1.0000 246
|
|
1022
|
+
FGFR2 chr10 123239112 G A 1.0000 241 NM_000141.5:c.*259C>T 3_prime_UTR_variant 18/18
|
|
1023
|
+
FGFR2 chr10 123240287 T C 1.0000 266 NM_000141.5:c.2302-752A>G intron_variant
|
|
1024
|
+
FGFR2 chr10 123241496 T C 0.9630 27 NM_000141.5:c.2301+1716A>G intron_variant
|
|
1025
|
+
FGFR2 chr10 123242026 T C 1.0000 241 NM_000141.5:c.2301+1186A>G intron_variant
|
|
1026
|
+
FGFR2 chr10 123242724 T C 1.0000 220 NM_000141.5:c.2301+488A>G intron_variant
|
|
1027
|
+
FGFR2 chr10 123242780 G C 1.0000 245 NM_000141.5:c.2301+432C>G intron_variant
|
|
1028
|
+
FGFR2 chr10 123243197 G A 1.0000 224 NM_000141.5:c.2301+15C>T intron_variant
|
|
1029
|
+
FGFR2 chr10 123262708 G A 1.0000 225 NM_000141.5:c.1439+596C>T intron_variant
|
|
1030
|
+
FGFR2 chr10 123280915 T C 1.0000 237 NM_000141.5:c.749-1232A>G intron_variant
|
|
1031
|
+
FGFR2 chr10 123298158 T C 0.6207 232 NM_000141.5:c.696A>G(p.(Val232=)) NM_000141.5:c.696A>G synonymous_variant 6/18
|
|
1032
|
+
chr10 132698419 T C 0.7388 268
|
|
1033
|
+
HRAS chr11 534242 A G 0.2254 173 NM_005343.4:c.81T>C(p.(His27=)) NM_005343.4:c.81T>C synonymous_variant 2/6
|
|
1034
|
+
chr11 5709028 C T 0.5567 194
|
|
1035
|
+
LMO1 chr11 8251921 G C 0.3713 202 NM_002315.3:c.156C>G(p.(Ala52=)) NM_002315.3:c.156C>G synonymous_variant 2/4
|
|
1036
|
+
chr11 11096221 C T 0.3156 263
|
|
1037
|
+
SDHAF2 chr11 61200989 A G 0.5956 225 NM_017841.4:c.36+3335A>G intron_variant
|
|
1038
|
+
SDHAF2 chr11 61205265 C T 0.1373 233 NP_060311.1:p.(Arg69Cys) NM_017841.4:c.205C>T missense_variant 2/4
|
|
1039
|
+
MEN1 chr11 64572018 T C 0.9961 256 NP_001357188.2:p.(Thr541Ala) NM_001370259.2:c.1621A>G missense_variant 10/10
|
|
1040
|
+
MEN1 chr11 64572557 A G 1.0000 229 NM_001370259.2:c.1299T>C(p.(His433=)) NM_001370259.2:c.1299T>C synonymous_variant 9/10
|
|
1041
|
+
RPS6KB2 chr11 67200819 C T 1.0000 213 NM_003952.3:c.807C>T(p.(Phe269=)) NM_003952.3:c.807C>T synonymous_variant 10/15
|
|
1042
|
+
RPS6KB2 chr11 67202044 G A 1.0000 151 NM_003952.3:c.1156-9G>A intron_variant
|
|
1043
|
+
RPS6KB2 chr11 67202156 C T 1.0000 182 NP_003943.2:p.(Ala420Val) NM_003952.3:c.1259C>T missense_variant 14/15
|
|
1044
|
+
CCND1 chr11 69463130 A G 0.5000 208 NM_053056.3:c.723+220A>G intron_variant
|
|
1045
|
+
CCND1 chr11 69463478 AG A 1.0000 192 NM_053056.3:c.723+571del intron_variant
|
|
1046
|
+
CCND1 chr11 69466737 C G 1.0000 295 NM_053056.3:c.*687C>G 3_prime_UTR_variant 5/5
|
|
1047
|
+
FGF19 chr11 69510521 C G 0.0788 241 downstream_gene_variant
|
|
1048
|
+
FGF19 chr11 69523592 A G 1.0000 238 upstream_gene_variant
|
|
1049
|
+
FGF4 chr11 69583722 A G 0.4809 235 downstream_gene_variant
|
|
1050
|
+
FGF4 chr11 69584435 C T 1.0000 186 downstream_gene_variant
|
|
1051
|
+
FGF4 chr11 69588729 G A 1.0000 186 NM_002007.4:c.444+63C>T intron_variant
|
|
1052
|
+
FGF4 chr11 69589308 A G 1.0000 143 NM_002007.4:c.340+205T>C intron_variant
|
|
1053
|
+
FGF4 chr11 69589556 G A 0.5648 108 NM_002007.4:c.297C>T(p.(Leu99=)) NM_002007.4:c.297C>T synonymous_variant 1/3
|
|
1054
|
+
FGF4 chr11 69590088 T TG 0.5217 138 NM_002007.4:c.-237dup 5_prime_UTR_variant 1/3
|
|
1055
|
+
FGF4 chr11 69591028 T G 1.0000 182 upstream_gene_variant
|
|
1056
|
+
FGF4 chr11 69592140 A T 1.0000 227 upstream_gene_variant
|
|
1057
|
+
FGF4 chr11 69592714 T C 1.0000 242 upstream_gene_variant
|
|
1058
|
+
FGF4 chr11 69592748 A T 0.5220 205 upstream_gene_variant
|
|
1059
|
+
FGF4 chr11 69592814 A G 1.0000 184 upstream_gene_variant
|
|
1060
|
+
FGF3 chr11 69624976 G C 0.0722 263 NM_005247.4:c.*97C>G 3_prime_UTR_variant 3/3
|
|
1061
|
+
EMSY chr11 76227182 G A 1.0000 195 NM_001300942.2:c.1559-4G>A splice_region_variant:intron_variant
|
|
1062
|
+
PAK1 chr11 77050714 A C 0.5604 298 NM_002576.5:c.1116+977T>G intron_variant
|
|
1063
|
+
PAK1 chr11 77051683 G C 0.5337 208 NM_002576.5:c.1116+8C>G splice_region_variant:intron_variant
|
|
1064
|
+
PAK1 chr11 77052071 T C 0.5258 194 NM_002576.5:c.999-263A>G intron_variant
|
|
1065
|
+
PAK1 chr11 77072290 A G 1.0000 246 NM_002576.5:c.478-2228T>C intron_variant
|
|
1066
|
+
PAK1 chr11 77106700 C T 0.4167 228 NM_002576.5:c.-21-3114G>A intron_variant
|
|
1067
|
+
PAK1 chr11 77126820 C T 0.3712 229 NM_002576.5:c.-21-23234G>A intron_variant
|
|
1068
|
+
PAK1 chr11 77133777 C G 0.4444 207 NM_002576.5:c.-21-30191G>C intron_variant
|
|
1069
|
+
PAK1 chr11 77148788 TA T 0.3731 268 NM_002576.5:c.-22+35808del intron_variant
|
|
1070
|
+
PAK1 chr11 77163792 G A 0.9957 235 NM_002576.5:c.-22+20805C>T intron_variant
|
|
1071
|
+
EED chr11 85977117 G A 0.3594 192 NM_003797.5:c.727-8G>A splice_region_variant:intron_variant
|
|
1072
|
+
ATM chr11 108175394 T C 0.3832 107 NM_000051.4:c.5497-8T>C splice_region_variant:intron_variant
|
|
1073
|
+
ATM chr11 108175462 G A 0.3784 148 NP_000042.3:p.(Asp1853Asn) NM_000051.4:c.5557G>A missense_variant 37/63
|
|
1074
|
+
ATM chr11 108183167 A G 1.0000 176 NM_000051.4:c.5948=(p.(Ser1983=)) NM_000051.4:c.5948= synonymous_variant 40/63
|
|
1075
|
+
SDHD chr11 111963860 A G 1.0000 90 NM_003002.4:c.315-1669A>G intron_variant
|
|
1076
|
+
chr11 115207176 C G 0.6272 169
|
|
1077
|
+
KMT2A chr11 118355642 A C 0.5143 245 NM_001197104.2:c.4284A>C(p.(Ile1428=)) NM_001197104.2:c.4284A>C synonymous_variant 10/36
|
|
1078
|
+
KMT2A chr11 118362586 AG A 0.1712 222 NP_001184033.1:p.(Val1650PhefsTer2) NM_001197104.2:c.4948del frameshift_variant 15/36
|
|
1079
|
+
KMT2A chr11 118368665 A G 0.5000 164 NM_001197104.2:c.5679A>G(p.(Leu1893=)) NM_001197104.2:c.5679A>G synonymous_variant 21/36
|
|
1080
|
+
KMT2A chr11 118373861 C T 0.4382 267 NM_001197104.2:c.7254C>T(p.(Asn2418=)) NM_001197104.2:c.7254C>T synonymous_variant 27/36
|
|
1081
|
+
CHEK1 chr11 125501511 A AACACTTTGG 0.2490 249 NM_001114122.3:c.425-1547_425-1546insACACTTTGG intron_variant
|
|
1082
|
+
CHEK1 chr11 125508567 G A 0.3796 245 NM_001114122.3:c.814+1128G>A intron_variant
|
|
1083
|
+
CHEK1 chr11 125520725 CAG C 0.6208 240 NM_001114122.3:c.1234-2912_1234-2911del intron_variant
|
|
1084
|
+
CHEK1 chr11 125520789 T C 0.3645 321 NM_001114122.3:c.1234-2852T>C intron_variant
|
|
1085
|
+
CHEK1 chr11 125522188 T C 0.3988 321 NM_001114122.3:c.1234-1453T>C intron_variant
|
|
1086
|
+
CHEK1 chr11 125525195 A G 1.0000 345 NP_001107594.1:p.(Ile471Val) NM_001114122.3:c.1411A>G missense_variant 13/13
|
|
1087
|
+
ETS1 chr11 128328913 G A 0.3745 259 NM_001143820.2:c.*3343C>T 3_prime_UTR_variant 10/10
|
|
1088
|
+
ETS1 chr11 128330520 T C 0.3596 356 NM_001143820.2:c.*1736A>G 3_prime_UTR_variant 10/10
|
|
1089
|
+
FLI1 chr11 128682460 C A 0.5767 352 NM_002017.5:c.*1577C>A 3_prime_UTR_variant 9/9
|
|
1090
|
+
FLI1 chr11 128682606 G T 0.6017 354 NM_002017.5:c.*1723G>T 3_prime_UTR_variant 9/9
|
|
1091
|
+
FLI1 chr11 128682716 A ACTCAATTTTGAAATCTGCAAAGTATTCATTAG 0.4420 224 NM_002017.5:c.*1833_*1834insCTCAATTTTGAAATCTGCAAAGTATTCATTAG 3_prime_UTR_variant 9/9
|
|
1092
|
+
chr11 134667546 A T 0.5455 209
|
|
1093
|
+
KDM5A chr12 406292 G A 1.0000 254 NM_001042603.3:c.4149C>T(p.(Ser1383=)) NM_001042603.3:c.4149C>T synonymous_variant 25/28
|
|
1094
|
+
KDM5A chr12 427575 A G 1.0000 276 NP_001036068.1:p.(Met865Thr) NM_001042603.3:c.2594T>C missense_variant 19/28
|
|
1095
|
+
chr12 888320 G A 0.4696 247
|
|
1096
|
+
RAD52 chr12 1023218 G T 0.4720 250 NP_602296.2:p.(Ser346Ter) NM_134424.4:c.1037C>A stop_gained 11/12
|
|
1097
|
+
CCND2 chr12 4383280 G C 0.1353 133 NP_001750.1:p.(Arg25Pro) NM_001759.4:c.74G>C missense_variant 1/5
|
|
1098
|
+
FGF23 chr12 4480218 T C 0.4519 239 NM_020638.3:c.316-269A>G intron_variant
|
|
1099
|
+
FGF23 chr12 4482973 T C 1.0000 215 NM_020638.3:c.212-1110A>G intron_variant
|
|
1100
|
+
FGF6 chr12 4539870 G A 1.0000 248 downstream_gene_variant
|
|
1101
|
+
FGF6 chr12 4553332 A G 1.0000 263 NM_020996.3:c.417T>C(p.(Val139=)) NM_020996.3:c.417T>C synonymous_variant 2/3
|
|
1102
|
+
FGF6 chr12 4553383 A G 1.0000 257 NM_020996.3:c.366T>C(p.(Thr122=)) NM_020996.3:c.366T>C synonymous_variant 2/3
|
|
1103
|
+
FGF6 chr12 4553669 T C 0.9951 205 NM_020996.3:c.347-267A>G intron_variant
|
|
1104
|
+
FGF6 chr12 4554413 C T 0.5150 200 NM_020996.3:c.324G>A(p.(Gly108=)) NM_020996.3:c.324G>A synonymous_variant 1/3
|
|
1105
|
+
FGF6 chr12 4554548 G C 1.0000 259 NM_020996.3:c.189C>G(p.(Ala63=)) NM_020996.3:c.189C>G synonymous_variant 1/3
|
|
1106
|
+
FGF6 chr12 4554630 A G 0.4875 240 NP_066276.2:p.(Val36Ala) NM_020996.3:c.107T>C missense_variant 1/3
|
|
1107
|
+
FGF6 chr12 4557597 C A 0.9950 199 upstream_gene_variant
|
|
1108
|
+
chr12 6945914 C G 0.4112 197
|
|
1109
|
+
ETV6 chr12 11992168 G A 0.4192 229 NM_001987.5:c.258G>A(p.(Thr86=)) NM_001987.5:c.258G>A synonymous_variant 3/8
|
|
1110
|
+
ETV6 chr12 12007343 G C 1.0000 218 NM_001987.5:c.463+848G>C intron_variant
|
|
1111
|
+
ETV6 chr12 12010736 C T 1.0000 229 NM_001987.5:c.463+4241C>T intron_variant
|
|
1112
|
+
ETV6 chr12 12011520 G A 1.0000 250 NM_001987.5:c.463+5025G>A intron_variant
|
|
1113
|
+
ETV6 chr12 12011766 AG A 0.9705 237 NM_001987.5:c.463+5273del intron_variant
|
|
1114
|
+
ETV6 chr12 12011768 GAGAA AG 0.9705 237 NM_001987.5:c.463+5273_463+5277delinsAG intron_variant
|
|
1115
|
+
ETV6 chr12 12011770 GAA G 1.0000 236 NM_001987.5:c.463+5276_463+5277del intron_variant
|
|
1116
|
+
ETV6 chr12 12012053 G C 1.0000 70 NM_001987.5:c.463+5558G>C intron_variant
|
|
1117
|
+
ETV6 chr12 12012106 T C 1.0000 23 NM_001987.5:c.463+5611T>C intron_variant
|
|
1118
|
+
ETV6 chr12 12012681 T C 1.0000 230 NM_001987.5:c.463+6186T>C intron_variant
|
|
1119
|
+
ETV6 chr12 12012801 A G 1.0000 300 NM_001987.5:c.463+6306A>G intron_variant
|
|
1120
|
+
ETV6 chr12 12013189 A G 0.9962 260 NM_001987.5:c.463+6694A>G intron_variant
|
|
1121
|
+
ETV6 chr12 12013292 G A 1.0000 258 NM_001987.5:c.463+6797G>A intron_variant
|
|
1122
|
+
ETV6 chr12 12013572 G A 1.0000 304 NM_001987.5:c.463+7077G>A intron_variant
|
|
1123
|
+
ETV6 chr12 12013985 C A 1.0000 267 NM_001987.5:c.463+7490C>A intron_variant
|
|
1124
|
+
ETV6 chr12 12014424 G A 1.0000 202 NM_001987.5:c.463+7929G>A intron_variant
|
|
1125
|
+
ETV6 chr12 12015401 G A 1.0000 225 NM_001987.5:c.464-6957G>A intron_variant
|
|
1126
|
+
ETV6 chr12 12016008 G A 1.0000 211 NM_001987.5:c.464-6350G>A intron_variant
|
|
1127
|
+
ETV6 chr12 12016045 C T 1.0000 207 NM_001987.5:c.464-6313C>T intron_variant
|
|
1128
|
+
ETV6 chr12 12016183 G T 1.0000 194 NM_001987.5:c.464-6175G>T intron_variant
|
|
1129
|
+
ETV6 chr12 12017285 T C 1.0000 203 NM_001987.5:c.464-5073T>C intron_variant
|
|
1130
|
+
ETV6 chr12 12018042 A G 0.7500 16 NM_001987.5:c.464-4316A>G intron_variant
|
|
1131
|
+
ETV6 chr12 12020114 C T 1.0000 236 NM_001987.5:c.464-2244C>T intron_variant
|
|
1132
|
+
ETV6 chr12 12020170 C T 1.0000 240 NM_001987.5:c.464-2188C>T intron_variant
|
|
1133
|
+
ETV6 chr12 12021657 T C 1.0000 184 NM_001987.5:c.464-701T>C intron_variant
|
|
1134
|
+
ETV6 chr12 12022098 A T 0.9831 59 NM_001987.5:c.464-260A>T intron_variant
|
|
1135
|
+
chr12 14909977 C T 0.3882 152
|
|
1136
|
+
chr12 14909995 GAT G 1.0000 173
|
|
1137
|
+
PIK3C2G chr12 18435398 GCCC G 0.4655 232 NP_001275701.1:p.(Pro129del) NM_001288772.2:c.385_387del inframe_deletion 2/33
|
|
1138
|
+
PIK3C2G chr12 18435452 C T 0.4449 227 NP_001275701.1:p.(Pro146Leu) NM_001288772.2:c.437C>T missense_variant 2/33
|
|
1139
|
+
PIK3C2G chr12 18443809 C A 0.4512 215 NP_001275701.1:p.(Ala261Glu) NM_001288772.2:c.782C>A missense_variant 4/33
|
|
1140
|
+
PIK3C2G chr12 18443955 C A 0.4872 156 NM_001288772.2:c.919+9C>A intron_variant
|
|
1141
|
+
PIK3C2G chr12 18446881 C T 0.4789 261 NM_001288772.2:c.966C>T(p.(Cys322=)) NM_001288772.2:c.966C>T synonymous_variant 5/33
|
|
1142
|
+
PIK3C2G chr12 18473930 A G 0.1584 221 NP_001275701.1:p.(Gln391Arg) NM_001288772.2:c.1172A>G missense_variant 7/33
|
|
1143
|
+
PIK3C2G chr12 18499777 C G 1.0000 239 NM_001288772.2:c.1625+7C>G splice_region_variant:intron_variant
|
|
1144
|
+
PIK3C2G chr12 18552594 C T 0.4206 214 NP_001275701.1:p.(Leu710Phe) NM_001288772.2:c.2128C>T missense_variant:splice_region_variant 16/33
|
|
1145
|
+
PIK3C2G chr12 18649057 C T 0.4635 233 NP_001275701.1:p.(Pro952Leu) NM_001288772.2:c.2855C>T missense_variant 21/33
|
|
1146
|
+
KRAS chr12 25359328 A T 0.5069 144 NM_004985.5:c.*3401T>A 3_prime_UTR_variant 5/5
|
|
1147
|
+
KRAS chr12 25362217 A G 0.4643 224 NM_004985.5:c.*512T>C 3_prime_UTR_variant 5/5
|
|
1148
|
+
KRAS chr12 25364978 T C 0.4795 146 NM_004985.5:c.451-2133A>G intron_variant
|
|
1149
|
+
KRAS chr12 25368462 C T 0.9590 244 NM_004985.5:c.451-5617G>A intron_variant
|
|
1150
|
+
KRAS chr12 25370249 T G 1.0000 176 NM_004985.5:c.451-7404A>C intron_variant
|
|
1151
|
+
KRAS chr12 25371462 C T 0.4716 229 NM_004985.5:c.450+7086G>A intron_variant
|
|
1152
|
+
KRAS chr12 25374197 C T 0.9742 194 NM_004985.5:c.450+4351G>A intron_variant
|
|
1153
|
+
KRAS chr12 25389507 A G 1.0000 213 NM_004985.5:c.111+8701T>C intron_variant
|
|
1154
|
+
KRAS chr12 25400962 G C 0.4876 201 NM_004985.5:c.-11-2633C>G intron_variant
|
|
1155
|
+
chr12 31957306 A G 0.3448 203
|
|
1156
|
+
chr12 31957306 AATAAAAGTTGACTTC GATAAAAGTTGACTTT 0.3448 203
|
|
1157
|
+
chr12 31957321 C T 0.3738 214
|
|
1158
|
+
chr12 31957381 G A 0.4553 235
|
|
1159
|
+
chr12 40863052 A G 0.6087 138
|
|
1160
|
+
KMT2D chr12 49442561 CAG C 0.3394 109 NM_003482.4:c.4021-11_4021-10del intron_variant
|
|
1161
|
+
ERBB3 chr12 56474379 T C 0.4428 201 NM_001982.4:c.82+213T>C intron_variant
|
|
1162
|
+
ERBB3 chr12 56477694 A T 0.3363 226 NM_001982.4:c.234+8A>T splice_region_variant:intron_variant
|
|
1163
|
+
ERBB3 chr12 56488913 G A 0.6335 281 NM_001982.4:c.1860-128G>A intron_variant
|
|
1164
|
+
ERBB3 chr12 56493822 A C 0.6403 417 NM_001982.4:c.3129+9A>C intron_variant
|
|
1165
|
+
ERBB3 chr12 56494991 G A 0.6220 336 NM_001982.4:c.3348G>A(p.(Arg1116=)) NM_001982.4:c.3348G>A synonymous_variant 27/28
|
|
1166
|
+
NAB2 chr12 57486033 A C 0.3136 287 NM_005967.4:c.958-198A>C intron_variant
|
|
1167
|
+
NAB2 chr12 57486278 G A 0.6320 269 NM_005967.4:c.1005G>A(p.(Thr335=)) NM_005967.4:c.1005G>A synonymous_variant 3/7
|
|
1168
|
+
NAB2 chr12 57486647 A G 1.0000 333 NM_005967.4:c.1092-53A>G intron_variant
|
|
1169
|
+
NAB2 chr12 57487729 T G 1.0000 250 NM_005967.4:c.1468+348T>G intron_variant
|
|
1170
|
+
NAB2 chr12 57487814 A C 1.0000 246 NM_005967.4:c.1468+433A>C intron_variant
|
|
1171
|
+
GLI1 chr12 57857485 C T 0.6337 202 NP_005260.1:p.(Ser4Leu) NM_005269.3:c.11C>T missense_variant 2/12
|
|
1172
|
+
GLI1 chr12 57859431 G A 0.3633 289 NM_005269.3:c.576G>A(p.(Glu192=)) NM_005269.3:c.576G>A synonymous_variant 6/12
|
|
1173
|
+
GLI1 chr12 57865321 G A 0.3527 275 NP_005260.1:p.(Gly933Asp) NM_005269.3:c.2798G>A missense_variant 12/12
|
|
1174
|
+
GLI1 chr12 57865821 G C 0.3600 225 NP_005260.1:p.(Glu1100Gln) NM_005269.3:c.3298G>C missense_variant 12/12
|
|
1175
|
+
CDK4 chr12 58144780 T G 0.6634 306 NP_000066.1:p.(Ser150Arg) NM_000075.4:c.448A>C missense_variant 4/8
|
|
1176
|
+
CDK4 chr12 58148721 T TG 1.0000 78 upstream_gene_variant
|
|
1177
|
+
FRS2 chr12 69967862 G A 0.4158 303 NM_001278356.2:c.654G>A(p.(Ala218=)) NM_001278356.2:c.654G>A synonymous_variant 9/9
|
|
1178
|
+
chr12 106328254 T C 1.0000 194
|
|
1179
|
+
SH2B3 chr12 111884608 T C 0.9959 241 NP_005466.1:p.(Trp262Arg) NM_005475.3:c.784T>C missense_variant 3/8
|
|
1180
|
+
HNF1A chr12 121416622 C G 1.0000 272 NM_000545.8:c.51C>G(p.(Leu17=)) NM_000545.8:c.51C>G synonymous_variant 1/10
|
|
1181
|
+
HNF1A chr12 121437382 A G 1.0000 213 NP_000536.6:p.(Ser574Gly) NM_000545.8:c.1720A>G missense_variant 9/10
|
|
1182
|
+
POLE chr12 133208979 T C 1.0000 254 NM_006231.4:c.6252A>G(p.(Ser2084=)) NM_006231.4:c.6252A>G synonymous_variant 45/49
|
|
1183
|
+
POLE chr12 133212582 G A 1.0000 260 NM_006231.4:c.5707C>T(p.(Leu1903=)) NM_006231.4:c.5707C>T synonymous_variant 42/49
|
|
1184
|
+
POLE chr12 133252796 C G 1.0000 184 NM_006231.4:c.910-6G>C splice_region_variant:intron_variant
|
|
1185
|
+
chr13 20901724 T A 1.0000 229
|
|
1186
|
+
LATS2 chr13 21562832 C T 1.0000 210 NP_055387.2:p.(Gly363Ser) NM_014572.3:c.1087G>A missense_variant 4/8
|
|
1187
|
+
LATS2 chr13 21562948 G A 1.0000 225 NP_055387.2:p.(Ala324Val) NM_014572.3:c.971C>T missense_variant 4/8
|
|
1188
|
+
LATS2 chr13 21620085 T C 1.0000 275 NM_014572.3:c.81A>G(p.(Lys27=)) NM_014572.3:c.81A>G synonymous_variant 2/8
|
|
1189
|
+
FGF9 chr13 22267137 C A 1.0000 193 NM_002010.3:c.382-8192C>A intron_variant
|
|
1190
|
+
FGF9 chr13 22273290 C T 1.0000 169 NM_002010.3:c.382-2039C>T intron_variant
|
|
1191
|
+
FGF9 chr13 22274316 G C 1.0000 216 NM_002010.3:c.382-1013G>C intron_variant
|
|
1192
|
+
FGF9 chr13 22275394 A G 1.0000 285 NM_002010.3:c.447A>G(p.(Ser149=)) NM_002010.3:c.447A>G synonymous_variant 3/3
|
|
1193
|
+
FGF9 chr13 22275583 G A 1.0000 201 NM_002010.3:c.*9G>A 3_prime_UTR_variant 3/3
|
|
1194
|
+
chr13 22374700 G A 1.0000 266
|
|
1195
|
+
FLT3 chr13 28610183 A G 1.0000 179 NM_004119.3:c.1310-3T>C splice_region_variant:intron_variant
|
|
1196
|
+
FLT3 chr13 28624294 G A 1.0000 261 NP_004110.2:p.(Thr227Met) NM_004119.3:c.680C>T missense_variant 6/24
|
|
1197
|
+
FLT3 chr13 28636084 G A 1.0000 218 NM_004119.3:c.288C>T(p.(Asp96=)) NM_004119.3:c.288C>T synonymous_variant 3/24
|
|
1198
|
+
FLT1 chr13 28883061 G A 0.4765 170 NM_002019.4:c.3639C>T(p.(Tyr1213=)) NM_002019.4:c.3639C>T synonymous_variant 28/30
|
|
1199
|
+
FLT1 chr13 28942450 T C 0.9778 90 NM_002019.4:c.2117-10628A>G intron_variant
|
|
1200
|
+
FLT1 chr13 28960468 A C 1.0000 222 NM_002019.4:c.1970-1300T>G intron_variant
|
|
1201
|
+
FLT1 chr13 28960593 T A 1.0000 259 NM_002019.4:c.1970-1425A>T intron_variant
|
|
1202
|
+
FLT1 chr13 28961839 C T 0.9557 203 NM_002019.4:c.1969+2094G>A intron_variant
|
|
1203
|
+
FLT1 chr13 28962666 T C 1.0000 262 NM_002019.4:c.1969+1267A>G intron_variant
|
|
1204
|
+
FLT1 chr13 28962757 A T 1.0000 257 NM_002019.4:c.1969+1176T>A intron_variant
|
|
1205
|
+
FLT1 chr13 28963702 G A 1.0000 171 NM_002019.4:c.1969+231C>T intron_variant
|
|
1206
|
+
BRCA2 chr13 32891798 T C 0.6108 167 NM_000059.4:c.67+1134T>C intron_variant
|
|
1207
|
+
BRCA2 chr13 32906480 A C 0.3654 260 NP_000050.3:p.(Asn289His) NM_000059.4:c.865A>C missense_variant 10/27
|
|
1208
|
+
BRCA2 chr13 32906980 A G 0.3862 246 NM_000059.4:c.1365A>G(p.(Ser455=)) NM_000059.4:c.1365A>G synonymous_variant 10/27
|
|
1209
|
+
BRCA2 chr13 32907767 C T 0.3025 162 NM_000059.4:c.1909+243C>T intron_variant
|
|
1210
|
+
BRCA2 chr13 32910721 T C 0.3052 308 NM_000059.4:c.2229T>C(p.(His743=)) NM_000059.4:c.2229T>C synonymous_variant 11/27
|
|
1211
|
+
BRCA2 chr13 32911463 A G 0.3164 256 NP_000050.3:p.(Asn991Asp) NM_000059.4:c.2971A>G missense_variant 11/27
|
|
1212
|
+
BRCA2 chr13 32911888 A G 0.6627 249 NM_000059.4:c.3396A>G(p.(Lys1132=)) NM_000059.4:c.3396A>G synonymous_variant 11/27
|
|
1213
|
+
BRCA2 chr13 32913055 A G 1.0000 281 NM_000059.4:c.4563A>G(p.(Leu1521=)) NM_000059.4:c.4563A>G synonymous_variant 11/27
|
|
1214
|
+
BRCA2 chr13 32915005 G C 1.0000 266 NM_000059.4:c.6513G>C(p.(Val2171=)) NM_000059.4:c.6513G>C synonymous_variant 11/27
|
|
1215
|
+
BRCA2 chr13 32929232 A G 0.5796 226 NM_000059.4:c.7242A>G(p.(Ser2414=)) NM_000059.4:c.7242A>G synonymous_variant 14/27
|
|
1216
|
+
BRCA2 chr13 32929387 T C 1.0000 271 NP_000050.3:p.(Val2466Ala) NM_000059.4:c.7397T>C missense_variant 14/27
|
|
1217
|
+
DIS3 chr13 73340177 G A 0.7838 370 NP_055768.3:p.(Pro635Ser) NM_014953.5:c.1903C>T missense_variant 15/21
|
|
1218
|
+
DIS3 chr13 73343039 C T 0.7290 321 NM_014953.5:c.1767G>A(p.(Thr589=)) NM_014953.5:c.1767G>A synonymous_variant 14/21
|
|
1219
|
+
DIS3 chr13 73350079 T C 0.7003 287 NP_055768.3:p.(Asn269Ser) NM_014953.5:c.806A>G missense_variant 5/21
|
|
1220
|
+
chr13 100038233 A G 0.9927 273
|
|
1221
|
+
chr13 100038271 A T 1.0000 254
|
|
1222
|
+
FGF14 chr13 102382362 C A 1.0000 304 NM_004115.4:c.409-3202G>T intron_variant
|
|
1223
|
+
chr13 102819223 T C 0.5992 252
|
|
1224
|
+
chr13 102891966 T A 0.3259 224
|
|
1225
|
+
chr13 102935730 A G 0.2817 252
|
|
1226
|
+
chr13 102948149 C T 0.3660 235
|
|
1227
|
+
ERCC5 chr13 103504517 T C 0.3772 281 NM_000123.4:c.138T>C(p.(His46=)) NM_000123.4:c.138T>C synonymous_variant 2/15
|
|
1228
|
+
ERCC5 chr13 103527849 G C 1.0000 275 NP_000114.3:p.(Gly1053Arg) NM_000123.4:c.3157G>C missense_variant 15/15
|
|
1229
|
+
ERCC5 chr13 103527930 G C 1.0000 231 NP_000114.3:p.(Gly1080Arg) NM_000123.4:c.3238G>C missense_variant 15/15
|
|
1230
|
+
IRS2 chr13 110435231 C T 0.3714 105 NP_003740.2:p.(Gly1057Asp) NM_003749.3:c.3170G>A missense_variant 1/2
|
|
1231
|
+
IRS2 chr13 110435953 A G 0.3442 154 NM_003749.3:c.2448T>C(p.(Cys816=)) NM_003749.3:c.2448T>C synonymous_variant 1/2
|
|
1232
|
+
IRS2 chr13 110436232 G A 0.4433 97 NM_003749.3:c.2169C>T(p.(Ser723=)) NM_003749.3:c.2169C>T synonymous_variant 1/2
|
|
1233
|
+
LAMP1 chr13 113958563 G C 0.5880 233 NM_005561.4:c.62-2237G>C intron_variant
|
|
1234
|
+
LAMP1 chr13 113965176 C A 1.0000 161 NM_005561.4:c.556C>A(p.(Arg186=)) NM_005561.4:c.556C>A synonymous_variant 4/9
|
|
1235
|
+
LAMP1 chr13 113977566 A T 0.9914 233 NM_005561.4:c.*830A>T 3_prime_UTR_variant 9/9
|
|
1236
|
+
BCL2L2 chr14 23777374 A G 1.0000 206 NP_004041.2:p.(Gln133Arg) NM_004050.5:c.398A>G missense_variant 3/4
|
|
1237
|
+
chr14 25850832 T A 0.3155 355
|
|
1238
|
+
chr14 29036737 T C 0.3246 382
|
|
1239
|
+
NFKBIA chr14 35871217 G A 0.7546 273 NM_020529.3:c.*2C>T 3_prime_UTR_variant 6/6
|
|
1240
|
+
NFKBIA chr14 35873770 G A 0.7729 207 NM_020529.3:c.81C>T(p.(Asp27=)) NM_020529.3:c.81C>T synonymous_variant 1/6
|
|
1241
|
+
FOXA1 chr14 38053795 GGAGAT G 0.0637 314 downstream_gene_variant
|
|
1242
|
+
FOXA1 chr14 38054085 T G 0.1937 191 downstream_gene_variant
|
|
1243
|
+
FOXA1 chr14 38055101 A G 0.2156 334 downstream_gene_variant
|
|
1244
|
+
FOXA1 chr14 38055123 G C 0.1917 266 downstream_gene_variant
|
|
1245
|
+
FOXA1 chr14 38058622 AC A 0.2352 472 downstream_gene_variant
|
|
1246
|
+
FOXA1 chr14 38061260 G A 0.1983 484 NM_004496.5:c.729C>T(p.(Tyr243=)) NM_004496.5:c.729C>T synonymous_variant 2/2
|
|
1247
|
+
FOXA1 chr14 38061742 C T 0.1919 344 NP_004487.2:p.(Ala83Thr) NM_004496.5:c.247G>A missense_variant 2/2
|
|
1248
|
+
FOXA1 chr14 38064738 G T 0.2130 169 upstream_gene_variant
|
|
1249
|
+
FOXA1 chr14 38065523 G C 0.0393 407 upstream_gene_variant
|
|
1250
|
+
FOXA1 chr14 38065813 T G 0.2505 515 upstream_gene_variant
|
|
1251
|
+
chr14 53216723 G C 1.0000 380
|
|
1252
|
+
TSHR chr14 81574959 A G 1.0000 226 NM_000369.5:c.692+163A>G intron_variant
|
|
1253
|
+
TSHR chr14 81575005 C A 1.0000 207 NM_000369.5:c.692+209C>A intron_variant
|
|
1254
|
+
TSHR chr14 81609779 G A 0.7217 327 NM_000369.5:c.1377G>A(p.(Ala459=)) NM_000369.5:c.1377G>A synonymous_variant 10/10
|
|
1255
|
+
TSHR chr14 81610583 G C 1.0000 284 NP_000360.2:p.(Glu727Asp) NM_000369.5:c.2181G>C missense_variant 10/10
|
|
1256
|
+
chr14 98845531 C T 1.0000 306
|
|
1257
|
+
HSP90AA1 chr14 102550803 G A 1.0000 264 NM_005348.4:c.1080C>T(p.(Asn360=)) NM_005348.4:c.1080C>T synonymous_variant 6/11
|
|
1258
|
+
chr14 102568296 G A 1.0000 273
|
|
1259
|
+
chr14 102568367 T A 1.0000 281
|
|
1260
|
+
NUTM1 chr15 34638910 C A 0.9889 180 NM_001284292.2:c.100+674C>A intron_variant
|
|
1261
|
+
NUTM1 chr15 34640218 C T 1.0000 291 NP_001271221.2:p.(Pro50Leu) NM_001284292.2:c.149C>T missense_variant 3/8
|
|
1262
|
+
NUTM1 chr15 34640378 T C 1.0000 178 NM_001284292.2:c.309T>C(p.(Asp103=)) NM_001284292.2:c.309T>C synonymous_variant 3/8
|
|
1263
|
+
chr15 39313402 C G 0.6695 239
|
|
1264
|
+
MGA chr15 41991315 A T 1.0000 276 NP_001387154.1:p.(Thr716Ser) NM_001400225.1:c.2146A>T missense_variant 5/24
|
|
1265
|
+
MGA chr15 42026764 C T 1.0000 224 NM_001400225.1:c.3888C>T(p.(Asp1296=)) NM_001400225.1:c.3888C>T synonymous_variant 12/24
|
|
1266
|
+
MGA chr15 42032383 C G 0.5455 177 NP_001387154.1:p.(Pro1572Ala) NM_001400225.1:c.4714C>G missense_variant 14/24
|
|
1267
|
+
MGA chr15 42041712 G A 1.0000 204 NM_001400225.1:c.6054G>A(p.(Lys2018=)) NM_001400225.1:c.6054G>A synonymous_variant 17/24
|
|
1268
|
+
FGF7 chr15 49719953 A C 1.0000 229 NM_002009.4:c.286+3173A>C intron_variant
|
|
1269
|
+
FGF7 chr15 49752694 T C 1.0000 211 NM_002009.4:c.287-22654T>C intron_variant
|
|
1270
|
+
chr15 53481514 T TAA 1.0000 169
|
|
1271
|
+
chr15 53616909 C T 0.6553 264
|
|
1272
|
+
chr15 55210705 C T 0.6754 191
|
|
1273
|
+
SMAD3 chr15 67457335 A G 0.3425 181 NM_005902.4:c.309A>G(p.(Leu103=)) NM_005902.4:c.309A>G synonymous_variant 2/9
|
|
1274
|
+
NTRK3 chr15 88521280 C G 0.5635 307 NM_001012338.3:c.1586-37296G>C intron_variant
|
|
1275
|
+
NTRK3 chr15 88576185 G C 1.0000 284 NM_001012338.3:c.1488C>G(p.(Ala496=)) NM_001012338.3:c.1488C>G synonymous_variant 14/20
|
|
1276
|
+
NTRK3 chr15 88679785 G A 1.0000 308 NM_001012338.3:c.678C>T(p.(Asn226=)) NM_001012338.3:c.678C>T synonymous_variant 8/20
|
|
1277
|
+
FANCI chr15 89803950 C T 0.5738 237 NP_001106849.1:p.(Pro55Leu) NM_001113378.2:c.164C>T missense_variant 4/38
|
|
1278
|
+
FANCI chr15 89804043 C T 0.3869 305 NP_001106849.1:p.(Ala86Val) NM_001113378.2:c.257C>T missense_variant 4/38
|
|
1279
|
+
FANCI chr15 89836228 G C 0.3836 305 NP_001106849.1:p.(Cys742Ser) NM_001113378.2:c.2225G>C missense_variant 22/38
|
|
1280
|
+
FANCI chr15 89838236 G A 1.0000 263 NM_001113378.2:c.2547=(p.(Lys849=)) NM_001113378.2:c.2547= synonymous_variant 24/38
|
|
1281
|
+
FANCI chr15 89858602 T C 0.4038 260 NM_001113378.2:c.3906T>C(p.(Gly1302=)) NM_001113378.2:c.3906T>C synonymous_variant 37/38
|
|
1282
|
+
FANCI chr15 89864316 G GCTAC 1.0000 170 downstream_gene_variant
|
|
1283
|
+
BLM chr15 91312823 T C 0.5739 230 NM_000057.4:c.2555+7T>C splice_region_variant:intron_variant
|
|
1284
|
+
BLM chr15 91337479 G A 0.5773 317 NM_000057.4:c.3102G>A(p.(Thr1034=)) NM_000057.4:c.3102G>A synonymous_variant 16/22
|
|
1285
|
+
BLM chr15 91346923 C A 0.5782 275 NM_000057.4:c.3531C>A(p.(Ala1177=)) NM_000057.4:c.3531C>A synonymous_variant 18/22
|
|
1286
|
+
BLM chr15 91354505 C T 0.6063 320 NM_000057.4:c.3945C>T(p.(Leu1315=)) NM_000057.4:c.3945C>T synonymous_variant 21/22
|
|
1287
|
+
CHD2 chr15 93510603 A G 0.9950 202 NM_001271.4:c.2049A>G(p.(Glu683=)) NM_001271.4:c.2049A>G synonymous_variant 17/39
|
|
1288
|
+
CHD2 chr15 93521604 A G 0.9953 211 NM_001271.4:c.2718A>G(p.(Gln906=)) NM_001271.4:c.2718A>G synonymous_variant 21/39
|
|
1289
|
+
CHD2 chr15 93536197 C T 0.9964 279 NM_001271.4:c.3564C>T(p.(Tyr1188=)) NM_001271.4:c.3564C>T synonymous_variant 28/39
|
|
1290
|
+
CHD2 chr15 93545488 T A 0.3874 382 NP_001262.3:p.(Ser1407Thr) NM_001271.4:c.4219T>A missense_variant 33/39
|
|
1291
|
+
CHD2 chr15 93567864 A C 0.3840 263 NM_001271.4:c.5416A>C(p.(Arg1806=)) NM_001271.4:c.5416A>C synonymous_variant 39/39
|
|
1292
|
+
IGF1R chr15 99454613 G A 0.4729 442 NP_000866.1:p.(Arg511Gln) NM_000875.5:c.1532G>A missense_variant 7/21
|
|
1293
|
+
IGF1R chr15 99478225 G A 0.5048 418 NM_000875.5:c.3129G>A(p.(Glu1043=)) NM_000875.5:c.3129G>A synonymous_variant 16/21
|
|
1294
|
+
AXIN1 chr16 347184 A G 0.4371 286 NM_003502.4:c.1827T>C(p.(Ala609=)) NM_003502.4:c.1827T>C synonymous_variant 7/11
|
|
1295
|
+
AXIN1 chr16 348222 C T 0.3846 234 NM_003502.4:c.1284G>A(p.(Ser428=)) NM_003502.4:c.1284G>A synonymous_variant 6/11
|
|
1296
|
+
AXIN1 chr16 396264 A G 0.5551 263 NM_003502.4:c.762T>C(p.(Asp254=)) NM_003502.4:c.762T>C synonymous_variant 2/11
|
|
1297
|
+
SLX4 chr16 3639139 A G 1.0000 252 NM_032444.4:c.4500T>C(p.(Asn1500=)) NM_032444.4:c.4500T>C synonymous_variant 12/15
|
|
1298
|
+
SLX4 chr16 3656482 C T 1.0000 243 NM_032444.4:c.753G>A(p.(Ala251=)) NM_032444.4:c.753G>A synonymous_variant 3/15
|
|
1299
|
+
chr16 5868700 A G 0.5946 296
|
|
1300
|
+
chr16 5868729 G C 0.5657 327
|
|
1301
|
+
GRIN2A chr16 9916204 C G 0.4167 204 NM_001134407.3:c.2085G>C(p.(Arg695=)) NM_001134407.3:c.2085G>C synonymous_variant 10/13
|
|
1302
|
+
GRIN2A chr16 9943666 C T 0.4219 237 NM_001134407.3:c.1275G>A(p.(Leu425=)) NM_001134407.3:c.1275G>A synonymous_variant 5/13
|
|
1303
|
+
SOCS1 chr16 11346008 A C 0.5299 234 downstream_gene_variant
|
|
1304
|
+
SOCS1 chr16 11347199 A G 0.4136 162 downstream_gene_variant
|
|
1305
|
+
SOCS1 chr16 11347311 T C 1.0000 243 downstream_gene_variant
|
|
1306
|
+
SOCS1 chr16 11352793 G C 1.0000 225 upstream_gene_variant
|
|
1307
|
+
ERCC4 chr16 14026007 G A 1.0000 221 NM_005236.3:c.974-7G>A splice_region_variant:intron_variant
|
|
1308
|
+
ERCC4 chr16 14041958 T C 0.4373 279 NM_005236.3:c.2505T>C(p.(Ser835=)) NM_005236.3:c.2505T>C synonymous_variant 11/11
|
|
1309
|
+
PRSS8 chr16 31143993 C T 0.5862 116 NM_002773.5:c.538+10G>A intron_variant
|
|
1310
|
+
CYLD chr16 50827518 C T 0.5177 226 NM_001378743.1:c.2412C>T(p.(Asp804=)) NM_001378743.1:c.2412C>T synonymous_variant 17/19
|
|
1311
|
+
chr16 55691824 C CTCCTGCGGTGCCCAG 1.0000 114
|
|
1312
|
+
NUP93 chr16 56855496 C G 0.5879 182 NM_014669.5:c.645C>G(p.(Leu215=)) NM_014669.5:c.645C>G synonymous_variant 7/22
|
|
1313
|
+
NUP93 chr16 56868700 A G 0.5372 121 NM_014669.5:c.1782+10A>G intron_variant
|
|
1314
|
+
CDH1 chr16 68771372 C T 1.0000 53 NM_004360.5:c.48+6C>T splice_region_variant:intron_variant
|
|
1315
|
+
CDH1 chr16 68857441 T C 0.3973 219 NM_004360.5:c.2076T>C(p.(Ala692=)) NM_004360.5:c.2076T>C synonymous_variant 13/16
|
|
1316
|
+
CDH1 chr16 68862165 C T 0.2996 227 NM_004360.5:c.2253C>T(p.(Asn751=)) NM_004360.5:c.2253C>T synonymous_variant 14/16
|
|
1317
|
+
ZFHX3 chr16 72821625 C T 0.7857 28 NP_008816.3:p.(Gly3517Asp) NM_006885.4:c.10550G>A missense_variant 10/10
|
|
1318
|
+
ZFHX3 chr16 72827758 T C 0.6627 249 NM_006885.4:c.8823A>G(p.(Gly2941=)) NM_006885.4:c.8823A>G synonymous_variant 9/10
|
|
1319
|
+
ZFHX3 chr16 72984595 C A 0.2941 272 NP_008816.3:p.(Ala997Ser) NM_006885.4:c.2989G>T missense_variant 3/10
|
|
1320
|
+
ZFHX3 chr16 72984668 C T 0.7276 279 NM_006885.4:c.2916G>A(p.(Ser972=)) NM_006885.4:c.2916G>A synonymous_variant 3/10
|
|
1321
|
+
ZFHX3 chr16 72991660 C G 0.6321 193 NM_006885.4:c.2385G>C(p.(Pro795=)) NM_006885.4:c.2385G>C synonymous_variant 2/10
|
|
1322
|
+
ZFHX3 chr16 72992269 G A 0.6693 257 NM_006885.4:c.1776C>T(p.(Asp592=)) NM_006885.4:c.1776C>T synonymous_variant 2/10
|
|
1323
|
+
ZFHX3 chr16 72992443 G A 0.3288 222 NM_006885.4:c.1602C>T(p.(Pro534=)) NM_006885.4:c.1602C>T synonymous_variant 2/10
|
|
1324
|
+
chr16 78017034 C A 1.0000 272
|
|
1325
|
+
chr16 78017034 CGCTTGGGAGGCGATTTC AGCTTGGGAGGTGATTTT 1.0000 272
|
|
1326
|
+
chr16 78017045 C T 1.0000 282
|
|
1327
|
+
chr16 78017051 C T 1.0000 277
|
|
1328
|
+
chr16 78017077 A G 1.0000 228
|
|
1329
|
+
chr16 80106361 C A 1.0000 267
|
|
1330
|
+
PLCG2 chr16 81819768 T C 0.9952 210 NM_002661.5:c.174T>C(p.(Ala58=)) NM_002661.5:c.174T>C synonymous_variant 2/33
|
|
1331
|
+
PLCG2 chr16 81922813 C T 0.6680 259 NP_002652.2:p.(Arg268Trp) NM_002661.5:c.802C>T missense_variant 10/33
|
|
1332
|
+
PLCG2 chr16 81929527 C G 0.2809 267 NM_002661.5:c.1188C>G(p.(Thr396=)) NM_002661.5:c.1188C>G synonymous_variant 13/33
|
|
1333
|
+
PLCG2 chr16 81941319 C T 0.6154 260 NM_002661.5:c.1497C>T(p.(Ala499=)) NM_002661.5:c.1497C>T synonymous_variant 16/33
|
|
1334
|
+
PLCG2 chr16 81953081 T C 1.0000 266 NM_002661.5:c.2055-8T>C splice_region_variant:intron_variant
|
|
1335
|
+
PLCG2 chr16 81971403 T C 0.7047 254 NM_002661.5:c.3093T>C(p.(Asn1031=)) NM_002661.5:c.3093T>C synonymous_variant 28/33
|
|
1336
|
+
ANKRD11 chr16 89346723 G A 0.7378 225 NP_037407.4:p.(Pro2076Leu) NM_013275.6:c.6227C>T missense_variant 9/13
|
|
1337
|
+
ANKRD11 chr16 89350038 G A 0.2786 280 NP_037407.4:p.(Ala971Val) NM_013275.6:c.2912C>T missense_variant 9/13
|
|
1338
|
+
ANKRD11 chr16 89350178 G A 0.2736 296 NM_013275.6:c.2772C>T(p.(Thr924=)) NM_013275.6:c.2772C>T synonymous_variant 9/13
|
|
1339
|
+
ANKRD11 chr16 89351851 A G 0.7124 306 NM_013275.6:c.1099T>C(p.(Leu367=)) NM_013275.6:c.1099T>C synonymous_variant 9/13
|
|
1340
|
+
FANCA chr16 89805914 T C 0.2500 240 NP_000126.2:p.(Thr1328Ala) NM_000135.4:c.3982A>G missense_variant 40/43
|
|
1341
|
+
FANCA chr16 89807233 C G 0.2794 272 NM_000135.4:c.3807G>C(p.(Leu1269=)) NM_000135.4:c.3807G>C synonymous_variant 38/43
|
|
1342
|
+
FANCA chr16 89809319 T C 0.2757 243 NM_000135.4:c.3654A>G(p.(Pro1218=)) NM_000135.4:c.3654A>G synonymous_variant 37/43
|
|
1343
|
+
FANCA chr16 89815152 G A 0.2996 257 NP_000126.2:p.(Ser1088Phe) NM_000135.4:c.3263C>T missense_variant 33/43
|
|
1344
|
+
FANCA chr16 89816314 A G 0.3028 142 NM_000135.4:c.3067-4T>C splice_region_variant:intron_variant
|
|
1345
|
+
FANCA chr16 89825065 G A 0.3652 230 NM_000135.4:c.2901C>T(p.(Ser967=)) NM_000135.4:c.2901C>T synonymous_variant 30/43
|
|
1346
|
+
FANCA chr16 89828437 A G 0.3073 180 NM_000135.4:c.2779-7T>C splice_region_variant:intron_variant
|
|
1347
|
+
FANCA chr16 89836323 C T 1.0000 255 NP_000126.2:p.(Gly809Asp) NM_000135.4:c.2426G>A missense_variant 26/43
|
|
1348
|
+
FANCA chr16 89838078 A G 0.7011 184 NM_000135.4:c.2151+8T>C splice_region_variant:intron_variant
|
|
1349
|
+
FANCA chr16 89839766 G C 0.2724 246 NP_000126.2:p.(Pro643Ala) NM_000135.4:c.1927C>G missense_variant 22/43
|
|
1350
|
+
FANCA chr16 89849480 C T 1.0000 253 NP_000126.2:p.(Gly501Ser) NM_000135.4:c.1501G>A missense_variant 16/43
|
|
1351
|
+
FANCA chr16 89857935 G A 0.2838 222 NP_000126.2:p.(Ala412Val) NM_000135.4:c.1235C>T missense_variant 14/43
|
|
1352
|
+
FANCA chr16 89858417 C A 0.2672 247 NM_000135.4:c.1143G>T(p.(Thr381=)) NM_000135.4:c.1143G>T synonymous_variant 13/43
|
|
1353
|
+
FANCA chr16 89862434 T C 0.2832 173 NM_000135.4:c.894-8A>G splice_region_variant:intron_variant
|
|
1354
|
+
FANCA chr16 89866043 T C 1.0000 216 NP_000126.2:p.(Thr266Ala) NM_000135.4:c.796A>G missense_variant 9/43
|
|
1355
|
+
chr17 2919393 A G 0.6758 327
|
|
1356
|
+
chr17 5706584 A G 0.3045 243
|
|
1357
|
+
GPS2 chr17 7217463 T C 0.5843 178 NM_004489.5:c.333A>G(p.(Leu111=)) NM_004489.5:c.333A>G synonymous_variant 5/11
|
|
1358
|
+
TP53 chr17 7577117 A C 0.2946 224 NP_000537.3:p.(Val274Gly) NM_000546.6:c.821T>G missense_variant 8/11
|
|
1359
|
+
TP53 chr17 7578115 T C 1.0000 178 NM_000546.6:c.672+62A>G intron_variant
|
|
1360
|
+
TP53 chr17 7578645 C T 1.0000 300 NM_000546.6:c.376-91G>A intron_variant
|
|
1361
|
+
TP53 chr17 7578837 A G 0.9933 149 NM_000546.6:c.376-283T>C intron_variant
|
|
1362
|
+
TP53 chr17 7579472 G C 1.0000 239 NP_000537.3:p.(Pro72Arg) NM_000546.6:c.215C>G missense_variant 4/11
|
|
1363
|
+
TP53 chr17 7579801 G C 0.9458 166 NM_000546.6:c.74+38C>G intron_variant
|
|
1364
|
+
TP53 chr17 7583072 A G 0.3498 203 NM_000546.6:c.-28-3132T>C intron_variant
|
|
1365
|
+
AURKB chr17 8108331 A G 1.0000 220 NP_004208.2:p.(Met298Thr) NM_004217.4:c.893T>C missense_variant 9/9
|
|
1366
|
+
AURKB chr17 8108331 ATGGGCACG GTGGGCACA 1.0000 220 NP_004208.2:p.(Met298Thr) NM_004217.4:c.885_893delinsTGTGCCCAC missense_variant 9/9
|
|
1367
|
+
AURKB chr17 8108339 G A 1.0000 197 NM_004217.4:c.885C>T(p.(Ser295=)) NM_004217.4:c.885C>T synonymous_variant 9/9
|
|
1368
|
+
NCOR1 chr17 15973844 A T 0.7714 140 NM_006311.4:c.4153-5T>A splice_region_variant:intron_variant
|
|
1369
|
+
NCOR1 chr17 16084985 A AACAC 0.6597 144 NM_006311.4:c.242+4879_242+4882dup intron_variant
|
|
1370
|
+
FLCN chr17 17122327 G A 0.7095 210 NM_144997.7:c.1062+6C>T splice_region_variant:intron_variant
|
|
1371
|
+
FLCN chr17 17124852 A G 0.2190 274 NM_144997.7:c.870T>C(p.(Ala290=)) NM_144997.7:c.870T>C splice_region_variant:synonymous_variant 8/14
|
|
1372
|
+
FLCN chr17 17129431 A G 0.2884 215 NM_144997.7:c.396+59T>C intron_variant
|
|
1373
|
+
GID4 chr17 17948475 G A 1.0000 249 NM_024052.5:c.453G>A(p.(Gly151=)) NM_024052.5:c.453G>A synonymous_variant 2/6
|
|
1374
|
+
ERBB2 chr17 37879588 A G 1.0000 163 NP_004439.2:p.(Ile655Val) NM_004448.4:c.1963A>G missense_variant 17/27
|
|
1375
|
+
ERBB2 chr17 37884037 C G 0.3606 208 NP_004439.2:p.(Pro1170Ala) NM_004448.4:c.3508C>G missense_variant 27/27
|
|
1376
|
+
RARA chr17 38506186 C T 0.6160 125 NM_000964.4:c.469+9C>T intron_variant
|
|
1377
|
+
ETV4 chr17 41616392 C T 1.0000 251 NM_001079675.5:c.203-2545G>A intron_variant
|
|
1378
|
+
ETV4 chr17 41616456 G C 1.0000 254 NM_001079675.5:c.203-2609C>G intron_variant
|
|
1379
|
+
MAP3K14 chr17 43342141 G C 1.0000 213 NM_003954.5:c.2706C>G(p.(Val902=)) NM_003954.5:c.2706C>G synonymous_variant 16/16
|
|
1380
|
+
RPS6KB1 chr17 57986711 T C 1.0000 77 NM_003161.4:c.142-1212T>C intron_variant
|
|
1381
|
+
RPS6KB1 chr17 57996806 G A 1.0000 231 NM_003161.4:c.381+4742G>A intron_variant
|
|
1382
|
+
RPS6KB1 chr17 58024224 C CAA 1.0000 284 NM_003161.4:c.*75_*76insAA 3_prime_UTR_variant 15/15
|
|
1383
|
+
RPS6KB1 chr17 58024275 A G 1.0000 242 NM_003161.4:c.*126A>G 3_prime_UTR_variant 15/15
|
|
1384
|
+
RPS6KB1 chr17 58024324 A G 1.0000 275 NM_003161.4:c.*175A>G 3_prime_UTR_variant 15/15
|
|
1385
|
+
BRIP1 chr17 59763465 T C 0.2966 263 NM_032043.3:c.2637A>G(p.(Glu879=)) NM_032043.3:c.2637A>G synonymous_variant 19/20
|
|
1386
|
+
CD79B chr17 62007498 A G 0.3450 229 NM_000626.4:c.366T>C(p.(Cys122=)) NM_000626.4:c.366T>C synonymous_variant 3/6
|
|
1387
|
+
AXIN2 chr17 63532517 G A 0.7166 187 NM_004655.4:c.2062C>T(p.(Leu688=)) NM_004655.4:c.2062C>T synonymous_variant 8/11
|
|
1388
|
+
AXIN2 chr17 63533789 T C 1.0000 255 NM_004655.4:c.1365A>G(p.(Pro455=)) NM_004655.4:c.1365A>G synonymous_variant 6/11
|
|
1389
|
+
AXIN2 chr17 63534250 T C 0.9958 239 NM_004655.4:c.1200+71A>G intron_variant
|
|
1390
|
+
AXIN2 chr17 63554591 G A 0.3005 193 NP_004646.3:p.(Pro50Ser) NM_004655.4:c.148C>T missense_variant 2/11
|
|
1391
|
+
SRSF2 chr17 74732507 A G 1.0000 161 NM_001195427.2:c.402T>C(p.(Ser134=)) NM_001195427.2:c.402T>C synonymous_variant 2/3
|
|
1392
|
+
SRSF2 chr17 74733099 G A 1.0000 164 NM_001195427.2:c.144C>T(p.(Asp48=)) NM_001195427.2:c.144C>T synonymous_variant 1/3
|
|
1393
|
+
RPTOR chr17 78820329 C T 0.7360 375 NM_020761.3:c.1269C>T(p.(Gly423=)) NM_020761.3:c.1269C>T synonymous_variant 11/34
|
|
1394
|
+
RPTOR chr17 78820374 G A 0.2367 300 NM_020761.3:c.1314G>A(p.(Gln438=)) NM_020761.3:c.1314G>A splice_region_variant:synonymous_variant 11/34
|
|
1395
|
+
RPTOR chr17 78854223 A G 0.2669 341 NM_020761.3:c.1518A>G(p.(Gln506=)) NM_020761.3:c.1518A>G synonymous_variant 14/34
|
|
1396
|
+
RPTOR chr17 78896529 C T 0.7645 276 NM_020761.3:c.2526C>T(p.(Thr842=)) NM_020761.3:c.2526C>T synonymous_variant 22/34
|
|
1397
|
+
RPTOR chr17 78919558 C T 0.2271 317 NM_020761.3:c.3117C>T(p.(Ala1039=)) NM_020761.3:c.3117C>T synonymous_variant 26/34
|
|
1398
|
+
RPTOR chr17 78921117 C T 0.7566 304 NM_020761.3:c.3231C>T(p.(Asn1077=)) NM_020761.3:c.3231C>T synonymous_variant 27/34
|
|
1399
|
+
YES1 chr18 724612 A G 1.0000 236 NM_005433.4:c.1444T>C(p.(Leu482=)) NM_005433.4:c.1444T>C synonymous_variant 12/12
|
|
1400
|
+
chr18 1127986 C A 0.6700 297
|
|
1401
|
+
chr18 9749879 G A 0.7327 202
|
|
1402
|
+
SETBP1 chr18 42456653 G A 0.3964 169 NM_015559.3:c.540+7405G>A intron_variant
|
|
1403
|
+
SETBP1 chr18 42529996 G C 0.3991 228 NP_056374.2:p.(Val231Leu) NM_015559.3:c.691G>C missense_variant 4/6
|
|
1404
|
+
SETBP1 chr18 42533130 A G 1.0000 256 NM_015559.3:c.3825A>G(p.(Ser1275=)) NM_015559.3:c.3825A>G synonymous_variant 4/6
|
|
1405
|
+
SMAD2 chr18 45371695 A G 0.5765 196 NM_005901.6:c.1280+16T>C intron_variant
|
|
1406
|
+
chr18 55225777 T C 0.6667 240
|
|
1407
|
+
chr18 57560606 T G 0.6880 234
|
|
1408
|
+
PMAIP1 chr18 57567432 A G 0.7273 99 NP_066950.1:p.(Lys8Arg) NM_021127.3:c.23A>G missense_variant 1/2
|
|
1409
|
+
BCL2 chr18 60985879 T C 1.0000 143 NM_000633.3:c.21A>G(p.(Thr7=)) NM_000633.3:c.21A>G synonymous_variant 2/3
|
|
1410
|
+
STK11 chr19 1223125 C G 0.6923 260 NP_000446.1:p.(Phe354Leu) NM_000455.5:c.1062C>G missense_variant 8/10
|
|
1411
|
+
DOT1L chr19 2226676 G A 0.3333 189 NP_115871.1:p.(Gly1386Ser) NM_032482.3:c.4156G>A missense_variant 27/28
|
|
1412
|
+
GNA11 chr19 3119239 C T 0.6538 182 NM_002067.5:c.771C>T(p.(Thr257=)) NM_002067.5:c.771C>T synonymous_variant 6/7
|
|
1413
|
+
MAP2K2 chr19 4102449 G A 0.5746 181 NM_030662.4:c.453C>T(p.(Asp151=)) NM_030662.4:c.453C>T splice_region_variant:synonymous_variant 4/11
|
|
1414
|
+
chr19 5174030 A G 0.3077 26
|
|
1415
|
+
PTPRS chr19 5206775 A G 1.0000 136 NM_002850.4:c.*10T>C 3_prime_UTR_variant 38/38
|
|
1416
|
+
PTPRS chr19 5212380 C T 0.6695 236 NM_002850.4:c.4737G>A(p.(Pro1579=)) NM_002850.4:c.4737G>A synonymous_variant 31/38
|
|
1417
|
+
PTPRS chr19 5214697 A G 1.0000 212 NP_002841.3:p.(Cys1457Arg) NM_002850.4:c.4369T>C missense_variant 29/38
|
|
1418
|
+
INSR chr19 7125297 G A 0.6209 211 NM_000208.4:c.3255C>T(p.(His1085=)) NM_000208.4:c.3255C>T synonymous_variant 17/22
|
|
1419
|
+
INSR chr19 7163065 G A 0.3385 193 NM_000208.4:c.2007C>T(p.(Phe669=)) NM_000208.4:c.2007C>T synonymous_variant 9/22
|
|
1420
|
+
INSR chr19 7166388 G A 0.3529 204 NM_000208.4:c.1638C>T(p.(Asp546=)) NM_000208.4:c.1638C>T synonymous_variant 8/22
|
|
1421
|
+
INSR chr19 7293898 G C 1.0000 1 NP_000199.2:p.(Ala2Gly) NM_000208.4:c.5C>G missense_variant 1/22
|
|
1422
|
+
DNMT1 chr19 10265312 T C 1.0000 270 NM_001130823.3:c.1782A>G(p.(Thr594=)) NM_001130823.3:c.1782A>G synonymous_variant 21/41
|
|
1423
|
+
DNMT1 chr19 10265593 G T 0.5175 228 NM_001130823.3:c.1632C>A(p.(Ile544=)) NM_001130823.3:c.1632C>A synonymous_variant 20/41
|
|
1424
|
+
DNMT1 chr19 10267077 T C 0.5080 250 NM_001130823.3:c.1389A>G(p.(Pro463=)) NM_001130823.3:c.1389A>G synonymous_variant 18/41
|
|
1425
|
+
DNMT1 chr19 10270746 GA G 0.9524 147 NM_001130823.3:c.1044-8del splice_region_variant:intron_variant
|
|
1426
|
+
SMARCA4 chr19 11105608 T C 0.5072 276 NM_003072.5:c.1524T>C(p.(His508=)) NM_003072.5:c.1524T>C synonymous_variant 9/35
|
|
1427
|
+
SMARCA4 chr19 11170839 T C 0.5176 85 NM_003072.5:c.4887T>C(p.(Asp1629=)) NM_003072.5:c.4887T>C synonymous_variant 34/35
|
|
1428
|
+
DNAJB1 chr19 14627050 G A 0.5017 287 NM_006145.3:c.793-68C>T intron_variant
|
|
1429
|
+
DNAJB1 chr19 14627215 T C 0.4892 323 NM_006145.3:c.792+63A>G intron_variant
|
|
1430
|
+
DNAJB1 chr19 14628541 A G 0.4432 88 NM_006145.3:c.211+410T>C intron_variant
|
|
1431
|
+
DNAJB1 chr19 14629171 C T 0.4340 53 NM_006145.3:c.-10G>A 5_prime_UTR_variant 1/3
|
|
1432
|
+
NOTCH3 chr19 15271771 G A 1.0000 266 NP_000426.2:p.(Ala2223Val) NM_000435.3:c.6668C>T missense_variant 33/33
|
|
1433
|
+
NOTCH3 chr19 15273381 A G 1.0000 176 NM_000435.3:c.5816-8T>C splice_region_variant:intron_variant
|
|
1434
|
+
NOTCH3 chr19 15278057 A G 1.0000 193 NM_000435.3:c.5362+3T>C splice_region_variant:intron_variant
|
|
1435
|
+
NOTCH3 chr19 15285052 T C 1.0000 333 NM_000435.3:c.4563A>G(p.(Pro1521=)) NM_000435.3:c.4563A>G synonymous_variant 25/33
|
|
1436
|
+
NOTCH3 chr19 15292437 T C 1.0000 279 NM_000435.3:c.2742A>G(p.(Pro914=)) NM_000435.3:c.2742A>G synonymous_variant 17/33
|
|
1437
|
+
NOTCH3 chr19 15295134 G A 0.9961 256 NM_000435.3:c.2538C>T(p.(Cys846=)) NM_000435.3:c.2538C>T synonymous_variant 16/33
|
|
1438
|
+
NOTCH3 chr19 15302844 T C 1.0000 270 NM_000435.3:c.606A>G(p.(Ala202=)) NM_000435.3:c.606A>G synonymous_variant 4/33
|
|
1439
|
+
PIK3R2 chr19 18272190 A C 1.0000 11 NP_005018.2:p.(Ser234Arg) NM_005027.4:c.700A>C missense_variant 6/16
|
|
1440
|
+
PIK3R2 chr19 18273047 T C 1.0000 128 NP_005018.2:p.(Ser313Pro) NM_005027.4:c.937T>C missense_variant 8/16
|
|
1441
|
+
PIK3R2 chr19 18279638 T C 1.0000 233 NM_005027.4:c.1911T>C(p.(Ser637=)) NM_005027.4:c.1911T>C synonymous_variant 15/16
|
|
1442
|
+
chr19 28463337 G A 0.4831 267
|
|
1443
|
+
CCNE1 chr19 30302546 C T 0.7500 8 upstream_gene_variant
|
|
1444
|
+
CCNE1 chr19 30314666 C T 0.4234 222 NM_001238.4:c.1215C>T(p.(Ser405=)) NM_001238.4:c.1215C>T synonymous_variant 12/12
|
|
1445
|
+
CEBPA chr19 33792631 C A 0.5200 25 NM_004364.5:c.690G>T(p.(Thr230=)) NM_004364.5:c.690G>T synonymous_variant 1/1
|
|
1446
|
+
KMT2B chr19 36213461 C T 0.4034 176 NM_014727.3:c.2572-9C>T intron_variant
|
|
1447
|
+
KMT2B chr19 36228954 G T 0.4888 178 NM_014727.3:c.7743-9G>T intron_variant
|
|
1448
|
+
AKT2 chr19 40737242 T C 1.0000 299 NM_001626.6:c.*2537= 3_prime_UTR_variant 14/14
|
|
1449
|
+
AKT2 chr19 40776408 A G 1.0000 256 NM_001626.6:c.-84-5150T>C intron_variant
|
|
1450
|
+
AKT2 chr19 40784838 C G 0.6391 230 NM_001626.6:c.-85+6250G>C intron_variant
|
|
1451
|
+
AXL chr19 41725271 A G 0.3194 144 NM_021913.5:c.-27A>G 5_prime_UTR_variant 1/20
|
|
1452
|
+
AXL chr19 41743861 A G 1.0000 246 NM_021913.5:c.796=(p.(Asp266=)) NM_021913.5:c.796= synonymous_variant 7/20
|
|
1453
|
+
ERCC2 chr19 45857049 T C 0.3740 246 NM_000400.4:c.1666-457A>G intron_variant
|
|
1454
|
+
ERCC2 chr19 45868309 T G 0.4202 188 NM_000400.4:c.468A>C(p.(Arg156=)) NM_000400.4:c.468A>C synonymous_variant 6/23
|
|
1455
|
+
ERCC2 chr19 45871606 T C 0.4606 254 NM_000400.4:c.360+282A>G intron_variant
|
|
1456
|
+
ERCC1 chr19 45909634 G T 0.4435 124 downstream_gene_variant
|
|
1457
|
+
ERCC1 chr19 45909934 G A 0.4466 103 downstream_gene_variant
|
|
1458
|
+
ERCC1 chr19 45923653 A G 0.5761 243 NM_001983.4:c.354T>C(p.(Asn118=)) NM_001983.4:c.354T>C synonymous_variant 4/10
|
|
1459
|
+
ERCC1 chr19 45925323 T C 0.5575 226 NM_001983.4:c.106-672A>G intron_variant
|
|
1460
|
+
PPP2R1A chr19 52693540 C T 0.6640 125 NM_014225.6:c.78+113C>T intron_variant
|
|
1461
|
+
PPP2R1A chr19 52714719 C T 0.6761 213 NM_014225.6:c.477C>T(p.(Ser159=)) NM_014225.6:c.477C>T synonymous_variant 4/15
|
|
1462
|
+
chr20 4447483 A C 1.0000 236
|
|
1463
|
+
PAK5 chr20 9543622 C T 1.0000 252 NP_817127.1:p.(Ser511Asn) NM_177990.4:c.1532G>A missense_variant 6/10
|
|
1464
|
+
PAK5 chr20 9543681 C T 1.0000 177 NM_177990.4:c.1483-10G>A intron_variant
|
|
1465
|
+
PAK5 chr20 9546554 G A 0.5294 221 NM_177990.4:c.1468C>T(p.(Leu490=)) NM_177990.4:c.1468C>T synonymous_variant 5/10
|
|
1466
|
+
chr20 11695625 C CCA 0.5380 329
|
|
1467
|
+
chr20 15124893 T C 1.0000 236
|
|
1468
|
+
chr20 15124933 G C 1.0000 224
|
|
1469
|
+
ASXL1 chr20 31022959 T C 1.0000 284 NM_015338.6:c.2444=(p.(Pro815=)) NM_015338.6:c.2444= synonymous_variant 13/13
|
|
1470
|
+
DNMT3B chr20 31386347 T C 0.4652 273 NM_006892.4:c.1572T>C(p.(Cys524=)) NM_006892.4:c.1572T>C synonymous_variant 15/23
|
|
1471
|
+
DNMT3B chr20 31386449 T C 0.5000 276 NM_006892.4:c.1674T>C(p.(Tyr558=)) NM_006892.4:c.1674T>C splice_region_variant:synonymous_variant 15/23
|
|
1472
|
+
DNMT3B chr20 31387954 C G 0.4636 220 NM_006892.4:c.1760-5C>G splice_region_variant:intron_variant
|
|
1473
|
+
DNMT3B chr20 31388636 T C 0.4630 216 NM_006892.4:c.1906-5T>C splice_region_variant:intron_variant
|
|
1474
|
+
SRC chr20 36030939 G C 1.0000 248 NM_198291.3:c.1218G>C(p.(Ala406=)) NM_198291.3:c.1218G>C synonymous_variant 12/14
|
|
1475
|
+
chr20 39487110 G A 1.0000 213
|
|
1476
|
+
PTPRT chr20 41818289 C G 0.7308 26 NP_008981.4:p.(Ala29Pro) NM_007050.6:c.85G>C missense_variant 1/31
|
|
1477
|
+
NCOA3 chr20 46267950 C T 0.9957 231 NM_181659.3:c.2707+4C>T splice_region_variant:intron_variant
|
|
1478
|
+
NCOA3 chr20 46268493 A G 0.6518 336 NM_181659.3:c.2880A>G(p.(Thr960=)) NM_181659.3:c.2880A>G synonymous_variant 15/23
|
|
1479
|
+
chr20 51296162 T C 0.6530 389
|
|
1480
|
+
AURKA chr20 54961463 T C 1.0000 370 NP_940839.1:p.(Ile57Val) NM_198437.3:c.169A>G missense_variant 3/9
|
|
1481
|
+
AURKA chr20 54961541 A T 0.6193 352 NP_940839.1:p.(Phe31Ile) NM_198437.3:c.91T>A missense_variant 3/9
|
|
1482
|
+
GNAS chr20 57478807 C T 1.0000 404 NM_000516.7:c.393C>T(p.(Ile131=)) NM_000516.7:c.393C>T synonymous_variant 5/13
|
|
1483
|
+
chr21 16685598 A G 0.5731 171
|
|
1484
|
+
chr21 28608163 A G 0.5337 178
|
|
1485
|
+
ERG chr21 39772247 TTTGCCCATC T 0.1542 253 NM_182918.4:c.745+240_745+248del intron_variant
|
|
1486
|
+
ERG chr21 39772249 TGCCCATCTGTCTTTCTGAAAAGCTAGTTAAAGG GTCTTTCTGAAAA 0.1269 260 NM_182918.4:c.745+214_745+247delinsTTTTCAGAAAGAC intron_variant
|
|
1487
|
+
ERG chr21 39772270 AGCTAGTTAAAGG A 0.1269 260 NM_182918.4:c.745+214_745+225del intron_variant
|
|
1488
|
+
ERG chr21 39843392 C T 0.4397 282 NM_182918.4:c.19-25848G>A intron_variant
|
|
1489
|
+
ERG chr21 39870310 G A 1.0000 213 NM_182918.4:c.-6C>T 5_prime_UTR_variant 1/10
|
|
1490
|
+
chr21 42415929 G A 1.0000 242
|
|
1491
|
+
chr21 42416022 T C 1.0000 169
|
|
1492
|
+
TMPRSS2 chr21 42836476 A G 1.0000 94 NM_005656.4:c.*1593T>C 3_prime_UTR_variant 14/14
|
|
1493
|
+
TMPRSS2 chr21 42836496 T C 1.0000 141 NM_005656.4:c.*1573A>G 3_prime_UTR_variant 14/14
|
|
1494
|
+
TMPRSS2 chr21 42836729 A G 1.0000 214 NM_005656.4:c.*1340T>C 3_prime_UTR_variant 14/14
|
|
1495
|
+
TMPRSS2 chr21 42836751 T A 1.0000 210 NM_005656.4:c.*1318A>T 3_prime_UTR_variant 14/14
|
|
1496
|
+
TMPRSS2 chr21 42845383 A G 1.0000 146 NM_005656.4:c.768T>C(p.(Ile256=)) NM_005656.4:c.768T>C synonymous_variant 9/14
|
|
1497
|
+
TMPRSS2 chr21 42860485 G C 0.4753 263 NM_005656.4:c.326-45C>G intron_variant
|
|
1498
|
+
TMPRSS2 chr21 42860494 C G 0.5326 261 NM_005656.4:c.326-54G>C intron_variant
|
|
1499
|
+
TMPRSS2 chr21 42860593 C T 0.5053 190 NM_005656.4:c.326-153G>A intron_variant
|
|
1500
|
+
TMPRSS2 chr21 42861181 G C 0.4608 204 NM_005656.4:c.325+253C>G intron_variant
|
|
1501
|
+
TMPRSS2 chr21 42862275 T C 0.5104 241 NM_005656.4:c.239-755A>G intron_variant
|
|
1502
|
+
TMPRSS2 chr21 42862531 C T 0.4786 234 NM_005656.4:c.239-1011G>A intron_variant
|
|
1503
|
+
TMPRSS2 chr21 42862936 A G 0.4831 236 NM_005656.4:c.239-1416T>C intron_variant
|
|
1504
|
+
TMPRSS2 chr21 42863178 A G 1.0000 227 NM_005656.4:c.239-1658T>C intron_variant
|
|
1505
|
+
TMPRSS2 chr21 42863320 C A 0.3800 150 NM_005656.4:c.239-1800G>T intron_variant
|
|
1506
|
+
TMPRSS2 chr21 42863326 A G 0.6159 138 NM_005656.4:c.239-1806T>C intron_variant
|
|
1507
|
+
TMPRSS2 chr21 42863369 C T 0.4226 168 NM_005656.4:c.239-1849G>A intron_variant
|
|
1508
|
+
TMPRSS2 chr21 42863723 T A 0.5127 236 NM_005656.4:c.239-2203A>T intron_variant
|
|
1509
|
+
TMPRSS2 chr21 42864692 A G 0.4638 207 NM_005656.4:c.238+1591T>C intron_variant
|
|
1510
|
+
TMPRSS2 chr21 42864743 A G 0.4928 209 NM_005656.4:c.238+1540T>C intron_variant
|
|
1511
|
+
TMPRSS2 chr21 42865047 C T 1.0000 213 NM_005656.4:c.238+1236G>A intron_variant
|
|
1512
|
+
TMPRSS2 chr21 42865151 T C 0.4946 184 NM_005656.4:c.238+1132A>G intron_variant
|
|
1513
|
+
TMPRSS2 chr21 42865324 G A 1.0000 156 NM_005656.4:c.238+959C>T intron_variant
|
|
1514
|
+
TMPRSS2 chr21 42866107 T C 0.4360 211 NM_005656.4:c.238+176A>G intron_variant
|
|
1515
|
+
TMPRSS2 chr21 42871273 T C 0.5045 220 NM_005656.4:c.-56-1157A>G intron_variant
|
|
1516
|
+
TMPRSS2 chr21 42871941 G C 1.0000 215 NM_005656.4:c.-56-1825C>G intron_variant
|
|
1517
|
+
TMPRSS2 chr21 42872897 G C 1.0000 224 NM_005656.4:c.-56-2781C>G intron_variant
|
|
1518
|
+
TMPRSS2 chr21 42873605 G A 0.4855 138 NM_005656.4:c.-56-3489C>T intron_variant
|
|
1519
|
+
TMPRSS2 chr21 42875004 C T 0.4916 179 NM_005656.4:c.-56-4888G>A intron_variant
|
|
1520
|
+
TMPRSS2 chr21 42876400 C T 0.5189 212 NM_005656.4:c.-57+3608G>A intron_variant
|
|
1521
|
+
TMPRSS2 chr21 42877542 C A 0.5028 177 NM_005656.4:c.-57+2466G>T intron_variant
|
|
1522
|
+
TMPRSS2 chr21 42879403 A T 0.5000 98 NM_005656.4:c.-57+605T>A intron_variant
|
|
1523
|
+
TMPRSS2 chr21 42879604 C A 0.5315 143 NM_005656.4:c.-57+404G>T intron_variant
|
|
1524
|
+
TMPRSS2 chr21 42879909 C A 0.5072 69 NM_005656.4:c.-57+99G>T intron_variant
|
|
1525
|
+
chr21 43606997 T C 1.0000 225
|
|
1526
|
+
ICOSLG chr21 45649494 A G 0.8280 93 NM_015259.6:c.898+443T>C intron_variant
|
|
1527
|
+
ICOSLG chr21 45649666 G A 1.0000 177 NM_015259.6:c.898+271C>T intron_variant
|
|
1528
|
+
ICOSLG chr21 45649778 A G 1.0000 231 NM_015259.6:c.898+159T>C intron_variant
|
|
1529
|
+
ICOSLG chr21 45649848 T C 1.0000 231 NM_015259.6:c.898+89A>G intron_variant
|
|
1530
|
+
LZTR1 chr22 21337325 G A 0.3522 159 NM_006767.4:c.210G>A(p.(Lys70=)) NM_006767.4:c.210G>A synonymous_variant 2/21
|
|
1531
|
+
BCR chr22 23627369 A G 1.0000 147 NP_004318.3:p.(Asn796Ser) NM_004327.4:c.2387A>G missense_variant 10/23
|
|
1532
|
+
BCR chr22 23631801 T C 0.6332 199 NM_004327.4:c.2700T>C(p.(Asn900=)) NM_004327.4:c.2700T>C synonymous_variant 13/23
|
|
1533
|
+
BCR chr22 23631801 TAAGGAAGGTGGGCCCCCCCGTT CAAGGAAGGTGGGCCCCCCCCGTC 0.6332 199 NM_004327.4:c.2700_2707+15delinsCAAGGAAGGTGGGCCCCCCCCGTC splice_donor_variant:frameshift_variant:intron_variant 13/23
|
|
1534
|
+
BCR chr22 23631813 G GC 0.6524 187 NM_004327.4:c.2707+12dup splice_region_variant:intron_variant
|
|
1535
|
+
BCR chr22 23631823 T C 0.6440 191 NM_004327.4:c.2707+15T>C intron_variant
|
|
1536
|
+
BCR chr22 23632257 A G 0.6238 210 NM_004327.4:c.2708-269A>G intron_variant
|
|
1537
|
+
BCR chr22 23632333 G A 1.0000 187 NM_004327.4:c.2708-193G>A intron_variant
|
|
1538
|
+
BCR chr22 23632513 A G 0.6471 204 NM_004327.4:c.2708-13A>G intron_variant
|
|
1539
|
+
BCR chr22 23632621 G C 0.6000 180 NM_004327.4:c.2782+21G>C intron_variant
|
|
1540
|
+
BCR chr22 23632621 GAGGGTTGCAGCGGCC CAGGGTTGCAGCGGCA 0.6000 180 NM_004327.4:c.2782+21_2782+36delinsCAGGGTTGCAGCGGCA intron_variant
|
|
1541
|
+
BCR chr22 23632636 C A 0.6178 191 NM_004327.4:c.2782+36C>A intron_variant
|
|
1542
|
+
BCR chr22 23632665 C A 1.0000 230 NM_004327.4:c.2782+65C>A intron_variant
|
|
1543
|
+
BCR chr22 23632777 G GT 0.6303 211 NM_004327.4:c.2782+182dup intron_variant
|
|
1544
|
+
BCR chr22 23632921 G T 0.6505 206 NM_004327.4:c.2782+321G>T intron_variant
|
|
1545
|
+
BCR chr22 23633252 G A 0.2597 154 NM_004327.4:c.2782+652G>A intron_variant
|
|
1546
|
+
BCR chr22 23633473 T C 0.6592 267 NM_004327.4:c.2782+873T>C intron_variant
|
|
1547
|
+
BCR chr22 23633842 G A 0.6626 246 NM_004327.4:c.2783-886G>A intron_variant
|
|
1548
|
+
BCR chr22 23633944 A G 0.6371 237 NM_004327.4:c.2783-784A>G intron_variant
|
|
1549
|
+
SMARCB1 chr22 24167513 G A 0.3251 203 NM_003073.5:c.897G>A(p.(Ser299=)) NM_003073.5:c.897G>A synonymous_variant 7/9
|
|
1550
|
+
chr22 26790901 G GTCAC 0.7059 170
|
|
1551
|
+
chr22 27816784 G A 0.6091 197
|
|
1552
|
+
CHEK2 chr22 29100711 T C 0.3504 234 NM_007194.4:c.847-1157A>G intron_variant
|
|
1553
|
+
CHEK2 chr22 29102967 G A 0.4089 247 NM_007194.4:c.846+3027C>T intron_variant
|
|
1554
|
+
CHEK2 chr22 29108229 A G 0.3930 201 NM_007194.4:c.684-224T>C intron_variant
|
|
1555
|
+
CHEK2 chr22 29123846 T A 0.4140 186 NM_007194.4:c.320-2491A>T intron_variant
|
|
1556
|
+
CHEK2 chr22 29125836 T C 1.0000 159 NM_007194.4:c.320-4481A>G intron_variant
|
|
1557
|
+
EWSR1 chr22 29678937 G A 0.8125 16 NM_005243.4:c.581+391G>A intron_variant
|
|
1558
|
+
chr22 33559508 T A 0.6407 231
|
|
1559
|
+
SOX10 chr22 38369976 A G 0.3314 175 NM_006941.4:c.927T>C(p.(His309=)) NM_006941.4:c.927T>C synonymous_variant 4/4
|
|
1560
|
+
SOX10 chr22 38379774 G A 0.7241 87 NM_006941.4:c.18C>T(p.(Asp6=)) NM_006941.4:c.18C>T synonymous_variant 2/4
|
|
1561
|
+
EP300 chr22 41525983 G A 0.0990 313 NP_001420.2:p.(Ala420Thr) NM_001429.4:c.1258G>A missense_variant 5/31
|
|
1562
|
+
EP300 chr22 41537234 G T 1.0000 193 NM_001429.4:c.2053+8G>T splice_region_variant:intron_variant
|
|
1563
|
+
EP300 chr22 41551039 T A 0.7652 328 NM_001429.4:c.3183T>A(p.(Thr1061=)) NM_001429.4:c.3183T>A synonymous_variant 17/31
|
|
1564
|
+
EP300 chr22 41574351 G A 0.7273 308 NM_001429.4:c.6636G>A(p.(Gln2212=)) NM_001429.4:c.6636G>A synonymous_variant 31/31
|
|
1565
|
+
chr22 47836412 G A 0.3620 221
|
|
1566
|
+
CRLF2 chrX 1314931 C T 0.3366 303 NP_071431.2:p.(Val244Met) NM_022148.4:c.730G>A missense_variant 6/6
|
|
1567
|
+
CRLF2 chrX 1317589 AACATAC A 0.2886 201 NM_022148.4:c.484-14_484-9del intron_variant
|
|
1568
|
+
CRLF2 chrX 1331495 G C 0.3322 292 NM_022148.4:c.33C>G(p.(Ala11=)) NM_022148.4:c.33C>G synonymous_variant 1/6
|
|
1569
|
+
BCOR chrX 39911657 C A 0.4308 130 NM_001123385.2:c.4977-4G>T splice_region_variant:intron_variant
|
|
1570
|
+
BCOR chrX 39933339 A G 1.0000 242 NM_001123385.2:c.1260T>C(p.(Asp420=)) NM_001123385.2:c.1260T>C synonymous_variant 4/15
|
|
1571
|
+
TFE3 chrX 48888074 T C 0.2337 291 NM_006521.6:c.1323A>G(p.(Val441=)) NM_006521.6:c.1323A>G synonymous_variant 10/10
|
|
1572
|
+
TFE3 chrX 48892694 A G 0.9957 234 NM_006521.6:c.886-928T>C intron_variant
|
|
1573
|
+
TFE3 chrX 48900900 T G 1.0000 163 upstream_gene_variant
|
|
1574
|
+
SMC1A chrX 53407591 TGA T 0.1809 304 NP_006297.2:p.(Leu1189GlnfsTer17) NM_006306.4:c.3566_3567del frameshift_variant 24/25
|
|
1575
|
+
AR chrX 66864417 A G 0.6010 193 NM_000044.6:c.1768+1168A>G intron_variant
|
|
1576
|
+
AR chrX 66909171 C G 1.0000 155 NM_000044.6:c.1885+3203C>G intron_variant
|
|
1577
|
+
MED12 chrX 70341169 A C 0.4141 99 NM_005120.3:c.736-8A>C splice_region_variant:intron_variant
|
|
1578
|
+
MED12 chrX 70349947 A C 0.4403 159 NM_005120.3:c.3930A>C(p.(Pro1310=)) NM_005120.3:c.3930A>C synonymous_variant 28/45
|
|
1579
|
+
ATRX chrX 76856021 T C 0.4573 199 NP_000480.3:p.(Asn1860Ser) NM_000489.6:c.5579A>G missense_variant 23/35
|
|
1580
|
+
ATRX chrX 76937963 G C 0.5686 204 NM_000489.6:c.2785=(p.(Glu929=)) NM_000489.6:c.2785= synonymous_variant 9/35
|
|
1581
|
+
BTK chrX 100608191 G A 0.3471 170 NM_000061.3:c.1899C>T(p.(Cys633=)) NM_000061.3:c.1899C>T synonymous_variant 18/19
|
|
1582
|
+
BTK chrX 100645467 T C 0.4740 154 upstream_gene_variant
|
|
1583
|
+
BTK chrX 100645475 G A 0.5306 147 upstream_gene_variant
|
|
1584
|
+
BCORL1 chrX 129147079 T C 1.0000 193 NM_001379451.1:c.331=(p.(Leu111=)) NM_001379451.1:c.331= synonymous_variant 4/14
|
|
1585
|
+
BCORL1 chrX 129147373 G A 0.3622 196 NP_001366380.1:p.(Gly209Ser) NM_001379451.1:c.625G>A missense_variant 4/14
|
|
1586
|
+
|