@molgenis/vip-report-template 8.0.2 → 8.0.3

package/package.json

@@ -1,6 +1,6 @@
 {
   "name": "@molgenis/vip-report-template",
-  "version": "8.0.2",
+  "version": "8.0.3",
   "description": "Report Template for Variant Call Format (VCF) Report Generator",
   "license": "LGPL-3.0",
   "devDependencies": {
@@ -26,7 +26,7 @@
   "dependencies": {
     "@fortawesome/fontawesome-svg-core": "^6.7.2",
     "@fortawesome/free-solid-svg-icons": "^6.7.2",
-    "@molgenis/vip-report-api": "^7.0.3",
+    "@molgenis/vip-report-api": "7.0.4",
     "@molgenis/vip-report-vcf": "^4.0.4",
     "@solidjs/router": "^0.15.4",
     "ajv": "^8.17.1",

package/src/components/GenomeBrowser.tsx

@@ -88,8 +88,8 @@ const createBrowserConfig = async (
       id: metadata.app.htsFile?.genomeAssembly,
       name: "Reference",
       fastaURL: "data:application/gzip;base64," + fromByteArray(fastaGz),
-      tracks: tracks,
     },
+    tracks: tracks,
     locus: `${contig}:${position}`,
     showChromosomeWidget: false,
     loadDefaultGenomes: false,

package/src/mocks/GRCh38/vcf/family.vcf

@@ -302,7 +302,7 @@ chr9	104784352	.	AAAGAT	A	.	PASS	CSQ=-|frameshift_variant|HIGH|ABCA1|19|Transcri
 chr10	124402930	.	G	C	.	PASS	CSQ=C|stop_gained|HIGH|OAT|4942|Transcript|NM_000274.4|protein_coding|7/10||NM_000274.4:c.897C>G|NP_000265.1:p.Tyr299Ter|977/2039|897/1320|299/439|Y/*|taC/taG|rs121965057&CM920525&COSV64348333|1||-1||1|EntrezGene||||||||likely_pathogenic&pathogenic|0&1&1|1&1&1|1737786&23076989&1609808&22674428||||||||-1|-3|-3|4|0.00|0.00|0.00|0.00|OAT|VUS|0.9577619|||||||AR||LP|4.83387e-05|0.99956|3.935e-05|3.64e-05|0||T|176|criteria_provided&_multiple_submitters&_no_conflicts|Likely_pathogenic||||||||99.8435|0.96855|0.10738|1.28999996185303|LP|filter&vkgl&exit_lp,C|stop_gained|HIGH|OAT|4942|Transcript|NM_001171814.2|protein_coding|6/9||NM_001171814.2:c.483C>G|NP_001165285.1:p.Tyr161Ter|749/1811|483/906|161/301|Y/*|taC/taG|rs121965057&CM920525&COSV64348333|1||-1|||EntrezGene||||||||likely_pathogenic&pathogenic|0&1&1|1&1&1|1737786&23076989&1609808&22674428||||||||-1|-3|-3|4|0.00|0.00|0.00|0.00|OAT|VUS|0.9739149|||||||AR||LP|4.83387e-05|0.99956|3.935e-05|3.64e-05|0||T|176|criteria_provided&_multiple_submitters&_no_conflicts|Likely_pathogenic||||||||99.8435|0.96855|0.10738|1.28999996185303|LP|filter&vkgl&exit_lp,C|stop_gained|HIGH|OAT|4942|Transcript|NM_001322965.2|protein_coding|7/10||NM_001322965.2:c.897C>G|NP_001309894.1:p.Tyr299Ter|972/2034|897/1320|299/439|Y/*|taC/taG|rs121965057&CM920525&COSV64348333|1||-1|||EntrezGene||||||||likely_pathogenic&pathogenic|0&1&1|1&1&1|1737786&23076989&1609808&22674428||||||||-1|-3|-3|4|0.00|0.00|0.00|0.00|OAT|VUS|0.9577619|||||||AR||LP|4.83387e-05|0.99956|3.935e-05|3.64e-05|0||T|176|criteria_provided&_multiple_submitters&_no_conflicts|Likely_pathogenic||||||||99.8435|0.96855|0.10738|1.28999996185303|LP|filter&vkgl&exit_lp,C|stop_gained|HIGH|OAT|4942|Transcript|NM_001322966.2|protein_coding|8/11||NM_001322966.2:c.897C>G|NP_001309895.1:p.Tyr299Ter|1292/2354|897/1320|299/439|Y/*|taC/taG|rs121965057&CM920525&COSV64348333|1||-1|||EntrezGene||||||||likely_pathogenic&pathogenic|0&1&1|1&1&1|1737786&23076989&1609808&22674428||||||||-1|-3|-3|4|0.00|0.00|0.00|0.00|OAT|VUS|0.91890144|||||||AR||LP|4.83387e-05|0.99956|3.935e-05|3.64e-05|0||T|176|criteria_provided&_multiple_submitters&_no_conflicts|Likely_pathogenic||||||||99.8435|0.96855|0.10738|1.28999996185303|LP|filter&vkgl&exit_lp,C|stop_gained|HIGH|OAT|4942|Transcript|NM_001322967.2|protein_coding|8/11||NM_001322967.2:c.897C>G|NP_001309896.1:p.Tyr299Ter|1097/2159|897/1320|299/439|Y/*|taC/taG|rs121965057&CM920525&COSV64348333|1||-1|||EntrezGene||||||||likely_pathogenic&pathogenic|0&1&1|1&1&1|1737786&23076989&1609808&22674428||||||||-1|-3|-3|4|0.00|0.00|0.00|0.00|OAT|VUS|0.95931506|||||||AR||LP|4.83387e-05|0.99956|3.935e-05|3.64e-05|0||T|176|criteria_provided&_multiple_submitters&_no_conflicts|Likely_pathogenic||||||||99.8435|0.96855|0.10738|1.28999996185303|LP|filter&vkgl&exit_lp,C|stop_gained|HIGH|OAT|4942|Transcript|NM_001322968.2|protein_coding|9/12||NM_001322968.2:c.897C>G|NP_001309897.1:p.Tyr299Ter|1184/2246|897/1320|299/439|Y/*|taC/taG|rs121965057&CM920525&COSV64348333|1||-1|||EntrezGene||||||||likely_pathogenic&pathogenic|0&1&1|1&1&1|1737786&23076989&1609808&22674428||||||||-1|-3|-3|4|0.00|0.00|0.00|0.00|OAT|VUS|0.9648485|||||||AR||LP|4.83387e-05|0.99956|3.935e-05|3.64e-05|0||T|176|criteria_provided&_multiple_submitters&_no_conflicts|Likely_pathogenic||||||||99.8435|0.96855|0.10738|1.28999996185303|LP|filter&vkgl&exit_lp,C|stop_gained|HIGH|OAT|4942|Transcript|NM_001322969.2|protein_coding|8/11||NM_001322969.2:c.897C>G|NP_001309898.1:p.Tyr299Ter|1064/2126|897/1320|299/439|Y/*|taC/taG|rs121965057&CM920525&COSV64348333|1||-1|||EntrezGene||||||||likely_pathogenic&pathogenic|0&1&1|1&1&1|1737786&23076989&1609808&22674428||||||||-1|-3|-3|4|0.00|0.00|0.00|0.00|OAT|VUS|0.9579952|||||||AR||LP|4.83387e-05|0.99956|3.935e-05|3.64e-05|0||T|176|criteria_provided&_multiple_submitters&_no_conflicts|Likely_pathogenic||||||||99.8435|0.96855|0.10738|1.28999996185303|LP|filter&vkgl&exit_lp,C|stop_gained|HIGH|OAT|4942|Transcript|NM_001322970.2|protein_coding|9/12||NM_001322970.2:c.897C>G|NP_001309899.1:p.Tyr299Ter|1280/2342|897/1320|299/439|Y/*|taC/taG|rs121965057&CM920525&COSV64348333|1||-1|||EntrezGene||||||||likely_pathogenic&pathogenic|0&1&1|1&1&1|1737786&23076989&1609808&22674428||||||||-1|-3|-3|4|0.00|0.00|0.00|0.00|OAT|VUS|0.91890144|||||||AR||LP|4.83387e-05|0.99956|3.935e-05|3.64e-05|0||T|176|criteria_provided&_multiple_submitters&_no_conflicts|Likely_pathogenic||||||||99.8435|0.96855|0.10738|1.28999996185303|LP|filter&vkgl&exit_lp,C|stop_gained|HIGH|OAT|4942|Transcript|NM_001322971.2|protein_coding|5/8||NM_001322971.2:c.576C>G|NP_001309900.1:p.Tyr192Ter|656/1718|576/999|192/332|Y/*|taC/taG|rs121965057&CM920525&COSV64348333|1||-1|||EntrezGene||||||||likely_pathogenic&pathogenic|0&1&1|1&1&1|1737786&23076989&1609808&22674428||||||||-1|-3|-3|4|0.00|0.00|0.00|0.00|OAT|VUS|0.96753824|||||||AR||LP|4.83387e-05|0.99956|3.935e-05|3.64e-05|0||T|176|criteria_provided&_multiple_submitters&_no_conflicts|Likely_pathogenic||||||||99.8435|0.96855|0.10738|1.28999996185303|LP|filter&vkgl&exit_lp,C|stop_gained|HIGH|OAT|4942|Transcript|NM_001322974.2|protein_coding|7/10||NM_001322974.2:c.297C>G|NP_001309903.1:p.Tyr99Ter|863/1925|297/720|99/239|Y/*|taC/taG|rs121965057&CM920525&COSV64348333|1||-1|||EntrezGene||||||||likely_pathogenic&pathogenic|0&1&1|1&1&1|1737786&23076989&1609808&22674428||||||||-1|-3|-3|4|0.00|0.00|0.00|0.00|OAT|VUS|0.91896105|||||||AR||LP|4.83387e-05|0.99956|3.935e-05|3.64e-05|0||T|176|criteria_provided&_multiple_submitters&_no_conflicts|Likely_pathogenic||||||||99.8435|0.96855|0.10738|1.28999996185303|LP|filter&vkgl&exit_lp;VIPC_S=U2	GT:DP:GQ:VID:VIM:VIPC_S:VIPP_S	0|0:50:50:.:.:.:.	0|0:50:50:.:.:.:.	1|0:50:50:.:.:.:.	0|1:50:50:.:.:.:.	0|0:10:50:.:.:.:.	1|0:50:50:0:0:U2,U2,U2,U2,U2,U2,U2,U2,U2,U2:gt&gq&only_IP&vim&exit_u2,gt&gq&only_IP&vim&exit_u2,gt&gq&only_IP&vim&exit_u2,gt&gq&only_IP&vim&exit_u2,gt&gq&only_IP&vim&exit_u2,gt&gq&only_IP&vim&exit_u2,gt&gq&only_IP&vim&exit_u2,gt&gq&only_IP&vim&exit_u2,gt&gq&only_IP&vim&exit_u2,gt&gq&only_IP&vim&exit_u2
 chr11	134144330	breakend2	G	G[8:61765143[	.	PASS	BND_DEPTH=39;CSQ=G[8:61765143[|feature_truncation&intron_variant|HIGH|JAM3|83700|Transcript|NM_001205329.2|protein_coding||3/7|||||||||1||1|||EntrezGene||||||||||||||||||||||||||||||||||||AR||||||||||||||NA|||JAM3||||||7.97399997711182|VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_vus,G[8:61765143[|feature_truncation&coding_sequence_variant|HIGH|JAM3|83700|Transcript|NM_032801.5|protein_coding|4/9||||359/3765|347/933|116/310||||1||1||1|EntrezGene||||||||||||||||||||||||||||||||||||AR||||||||||||||NA|||JAM3||||||7.97399997711182|VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_vus;MATEID=breakend1;MATE_BND_DEPTH=26;SVTYPE=BND;VIPC_S=U2	GT:DP:GQ:VID:VIM:VIPC_S:VIPP_S	0|0:50:50:.:.:.:.	0|0:50:50:.:.:.:.	0|0:50:50:.:.:.:.	0|0:50:50:.:.:.:.	0|0:10:50:.:.:.:.	1|0:50:50:1:0:U2,U2:gt&gq&only_IP&vim&exit_u2,gt&gq&only_IP&vim&exit_u2
 chr13	76995993	.	G	A	.	PASS	CSQ=A|missense_variant|MODERATE|CLN5|1203|Transcript|NM_001366624.2|protein_coding|3/5||NM_001366624.2:c.431G>A|NP_001353553.1:p.Cys144Tyr|449/5286|431/594|144/197|C/Y|tGt/tAt|rs1566219136|1||1|||EntrezGene|||||0|0.99||pathogenic||1||||||||194|-27|-43|-27|-1|0.00|0.00|0.01|0.00|CLN5|VUS|0.9150198|||||||AR||LP||||||||623394|criteria_provided&_multiple_submitters&_no_conflicts|Pathogenic|||||||0.837|99.5193|0.99528|0.982568|10.0030002593994|LP|filter&vkgl&exit_lp,A|missense_variant|MODERATE|CLN5|1203|Transcript|NM_006493.4|protein_coding|3/4||NM_006493.4:c.431G>A|NP_006484.2:p.Cys144Tyr|449/5243|431/1077|144/358|C/Y|tGt/tAt|rs1566219136|1||1||1|EntrezGene|||||0|0.998||pathogenic||1||||||||194|-27|-43|-27|-1|0.00|0.00|0.01|0.00|CLN5|VUS|0.98561203|||||||AR||LP||||||||623394|criteria_provided&_multiple_submitters&_no_conflicts|Pathogenic|||||||0.837|99.5193|0.99528|0.982568|10.0030002593994|LP|filter&vkgl&exit_lp;VIPC_S=U2	GT:DP:GQ:VID:VIM:VIPC_S:VIPP_S	0|0:50:50:.:.:.:.	0|0:50:50:.:.:.:.	0|0:50:50:.:.:.:.	0|0:50:50:.:.:.:.	0|0:10:50:.:.:.:.	1|0:50:50:1:0:U2,U2:gt&gq&only_IP&vim&exit_u2,gt&gq&only_IP&vim&exit_u2
-chr14	88870063	.	TG	T	.	PASS	CSQ=-|frameshift_variant|HIGH|TTC8|123016|Transcript|NM_001288781.1|protein_coding|12/16||NM_001288781.1:c.963del|NP_001275710.1:p.Met321IlefsTer15|1159/2378|963/1596|321/531|M/X|atG/at|rs1431207606|1||1|||EntrezGene||||||||likely_pathogenic&pathogenic||1|19797195&21052717&16308660&30886724&16877420||||||||18|-4|-9|-4|0.00|0.16|0.00|0.00|TTC8|VUS|0.9973392|||||||AR||LP|7.43531e-06|0.99975|3.97e-06|3.13e-06|0||T|930561|criteria_provided&_multiple_submitters&_no_conflicts|Likely_pathogenic||||||||99.7295||0.951635|9.52000045776367|LP|filter&vkgl&exit_lp,-|frameshift_variant|HIGH|TTC8|123016|Transcript|NM_001288782.1|protein_coding|10/14||NM_001288782.1:c.321del|NP_001275711.1:p.Met107IlefsTer15|1079/2298|321/954|107/317|M/X|atG/at|rs1431207606|1||1|||EntrezGene||||||||likely_pathogenic&pathogenic||1|19797195&21052717&16308660&30886724&16877420||||||||18|-4|-9|-4|0.00|0.16|0.00|0.00|TTC8|VUS|0.9738995|||||||AR||LP|7.43531e-06|0.99975|3.97e-06|3.13e-06|0||T|930561|criteria_provided&_multiple_submitters&_no_conflicts|Likely_pathogenic||||||||99.7295||0.951635|9.52000045776367|LP|filter&vkgl&exit_lp,-|frameshift_variant|HIGH|TTC8|123016|Transcript|NM_001288783.1|protein_coding|11/15||NM_001288783.1:c.198del|NP_001275712.1:p.Met66IlefsTer15|1051/2270|198/831|66/276|M/X|atG/at|rs1431207606|1||1|||EntrezGene||||||||likely_pathogenic&pathogenic||1|19797195&21052717&16308660&30886724&16877420||||||||18|-4|-9|-4|0.00|0.16|0.00|0.00|TTC8|VUS|0.9683613|||||||AR||LP|7.43531e-06|0.99975|3.97e-06|3.13e-06|0||T|930561|criteria_provided&_multiple_submitters&_no_conflicts|Likely_pathogenic||||||||99.7295||0.951635|9.52000045776367|LP|filter&vkgl&exit_lp,-|frameshift_variant|HIGH|TTC8|123016|Transcript|NM_001366535.2|protein_coding|10/13||NM_001366535.2:c.885del|NP_001353464.1:p.Met295IlefsTer15|942/5160|885/1434|295/477|M/X|atG/at|rs1431207606|1||1|||EntrezGene||||||||likely_pathogenic&pathogenic||1|19797195&21052717&16308660&30886724&16877420||||||||18|-4|-9|-4|0.00|0.16|0.00|0.00|TTC8|VUS|0.9943374|||||||AR||LP|7.43531e-06|0.99975|3.97e-06|3.13e-06|0||T|930561|criteria_provided&_multiple_submitters&_no_conflicts|Likely_pathogenic||||||||99.7295||0.951635|9.52000045776367|LP|filter&vkgl&exit_lp,-|frameshift_variant|HIGH|TTC8|123016|Transcript|NM_001366536.2|protein_coding|9/12||NM_001366536.2:c.795del|NP_001353465.1:p.Met265IlefsTer15|852/5070|795/1344|265/447|M/X|atG/at|rs1431207606|1||1|||EntrezGene||||||||likely_pathogenic&pathogenic||1|19797195&21052717&16308660&30886724&16877420||||||||18|-4|-9|-4|0.00|0.16|0.00|0.00|TTC8|VUS|0.9970993|||||||AR||LP|7.43531e-06|0.99975|3.97e-06|3.13e-06|0||T|930561|criteria_provided&_multiple_submitters&_no_conflicts|Likely_pathogenic||||||||99.7295||0.951635|9.52000045776367|LP|filter&vkgl&exit_lp,-|frameshift_variant|HIGH|TTC8|123016|Transcript|NM_144596.4|protein_coding|11/15||NM_144596.4:c.915del|NP_653197.2:p.Met305IlefsTer15|972/2183|915/1548|305/515|M/X|atG/at|rs1431207606|1||1||1|EntrezGene||||||||likely_pathogenic&pathogenic||1|19797195&21052717&16308660&30886724&16877420||||||||18|-4|-9|-4|0.00|0.16|0.00|0.00|TTC8|VUS|0.9968413|||||||AR||LP|7.43531e-06|0.99975|3.97e-06|3.13e-06|0||T|930561|criteria_provided&_multiple_submitters&_no_conflicts|Likely_pathogenic||||||||99.7295||0.951635|9.52000045776367|LP|filter&vkgl&exit_lp,-|frameshift_variant|HIGH|TTC8|123016|Transcript|NM_198309.3|protein_coding|11/15||NM_198309.3:c.885del|NP_938051.1:p.Met295IlefsTer15|1081/2300|885/1518|295/505|M/X|atG/at|rs1431207606|1||1|||EntrezGene||||||||likely_pathogenic&pathogenic||1|19797195&21052717&16308660&30886724&16877420||||||||18|-4|-9|-4|0.00|0.16|0.00|0.00|TTC8|VUS|0.98999304|||||||AR||LP|7.43531e-06|0.99975|3.97e-06|3.13e-06|0||T|930561|criteria_provided&_multiple_submitters&_no_conflicts|Likely_pathogenic||||||||99.7295||0.951635|9.52000045776367|LP|filter&vkgl&exit_lp,-|frameshift_variant|HIGH|TTC8|123016|Transcript|NM_198310.3|protein_coding|10/14||NM_198310.3:c.795del|NP_938052.1:p.Met265IlefsTer15|991/2210|795/1428|265/475|M/X|atG/at|rs1431207606|1||1|||EntrezGene||||||||likely_pathogenic&pathogenic||1|19797195&21052717&16308660&30886724&16877420||||||||18|-4|-9|-4|0.00|0.16|0.00|0.00|TTC8|VUS|0.99751306|||||||AR||LP|7.43531e-06|0.99975|3.97e-06|3.13e-06|0||T|930561|criteria_provided&_multiple_submitters&_no_conflicts|Likely_pathogenic||||||||99.7295||0.951635|9.52000045776367|LP|filter&vkgl&exit_lp,-|non_coding_transcript_exon_variant|MODIFIER|TTC8|123016|Transcript|NR_159362.2|misc_RNA|11/15||NR_159362.2:n.1002del||1002/5304|||||rs1431207606|1||1|||EntrezGene||||||||likely_pathogenic&pathogenic||1|19797195&21052717&16308660&30886724&16877420||||||||18|-4|-9|-4|0.00|0.16|0.00|0.00|TTC8|VUS|0.92329025|||||||AR||LP|7.43531e-06|0.99975|3.97e-06|3.13e-06|0||T|930561|criteria_provided&_multiple_submitters&_no_conflicts|Likely_pathogenic||||||||99.7295||0.951635|9.52000045776367|LP|filter&vkgl&exit_lp;VIPC_S=U2	GT:DP:GQ:VID:VIM:VIPC_S:VIPP_S	0|1:50:50:.:.:.:.	1|0:50:50:.:.:.:.	0|0:50:50:.:.:.:.	0|0:50:50:.:.:.:.	0|0:10:50:.:.:.:.	1|0:50:50:1:0:U2,U2,U2,U2,U2,U2,U2,U2,U2:gt&gq&only_IP&vim&exit_u2,gt&gq&only_IP&vim&exit_u2,gt&gq&only_IP&vim&exit_u2,gt&gq&only_IP&vim&exit_u2,gt&gq&only_IP&vim&exit_u2,gt&gq&only_IP&vim&exit_u2,gt&gq&only_IP&vim&exit_u2,gt&gq&only_IP&vim&exit_u2,gt&gq&only_IP&vim&exit_u2
+chr14	88870063	.	TG	T	.	PASS	CSQ=-|frameshift_variant|HIGH|TTC8|123016|Transcript|NM_001288781.1|protein_coding|12/16||NM_001288781.1:c.963del|NP_001275710.1:p.Met321IlefsTer15|1159/2378|963/1596|321/531|M/X|atG/at|rs1431207606|1||1|||EntrezGene||||||||likely_pathogenic&pathogenic||1|19797195&21052717&16308660&30886724&16877420||||||||18|-4|-9|-4|0.00|0.16|0.00|0.00|TTC8|VUS|0.9973392|||||||AR||LP|7.43531e-06|0.99975|3.97e-06|3.13e-06|0||T|930561|criteria_provided&_multiple_submitters&_no_conflicts|Likely_pathogenic||||||||99.7295||0.951635|9.52000045776367|LP|filter&vkgl&exit_lp,-|frameshift_variant|HIGH|TTC8|123016|Transcript|NM_001288782.1|protein_coding|10/14||NM_001288782.1:c.321del|NP_001275711.1:p.Met107IlefsTer15|1079/2298|321/954|107/317|M/X|atG/at|rs1431207606|1||1|||EntrezGene||||||||likely_pathogenic&pathogenic||1|19797195&21052717&16308660&30886724&16877420||||||||18|-4|-9|-4|0.00|0.16|0.00|0.00|TTC8|VUS|0.9738995|||||||AR||LP|7.43531e-06|0.99975|3.97e-06|3.13e-06|0||T|930561|criteria_provided&_multiple_submitters&_no_conflicts|Likely_pathogenic||||||||99.7295||0.951635|9.52000045776367|LP|filter&vkgl&exit_lp,-|frameshift_variant|HIGH|TTC8|123016|Transcript|NM_001288783.1|protein_coding|11/15||NM_001288783.1:c.198del|NP_001275712.1:p.Met66IlefsTer15|1051/2270|198/831|66/276|M/X|atG/at|rs1431207606|1||1|||EntrezGene||||||||likely_pathogenic&pathogenic||1|19797195&21052717&16308660&30886724&16877420||||||||18|-4|-9|-4|0.00|0.16|0.00|0.00|TTC8|VUS|0.9683613|||||||AR||LP|7.43531e-06|0.99975|3.97e-06|3.13e-06|0||T|930561|criteria_provided&_multiple_submitters&_no_conflicts|Likely_pathogenic||||||||99.7295||0.951635|9.52000045776367|LP|filter&vkgl&exit_lp,-|frameshift_variant|HIGH|TTC8|123016|Transcript|NM_001366535.2|protein_coding|10/13||NM_001366535.2:c.885del|NP_001353464.1:p.Met295IlefsTer15|942/5160|885/1434|295/477|M/X|atG/at|rs1431207606|1||1|||EntrezGene||||||||likely_pathogenic&pathogenic||1|19797195&21052717&16308660&30886724&16877420||||||||18|-4|-9|-4|0.00|0.16|0.00|0.00|TTC8|VUS|0.9943374|||||||AR||LP|7.43531e-06|0.99975|3.97e-06|3.13e-06|0||T|930561|criteria_provided&_multiple_submitters&_no_conflicts|Likely_pathogenic||||||||99.7295||0.951635|9.52000045776367|LP|filter&vkgl&exit_lp,-|frameshift_variant|HIGH|TTC8|123016|Transcript|NM_001366536.2|protein_coding|9/12||NM_001366536.2:c.795del|NP_001353465.1:p.Met265IlefsTer15|852/5070|795/1344|265/447|M/X|atG/at|rs1431207606|1||1|||EntrezGene||||||||likely_pathogenic&pathogenic||1|19797195&21052717&16308660&30886724&16877420||||||||18|-4|-9|-4|0.00|0.16|0.00|0.00|TTC8|VUS|0.9970993|||||||AR||LP|7.43531e-06|0.99975|3.97e-06|3.13e-06|0||T|930561|criteria_provided&_multiple_submitters&_no_conflicts|Likely_pathogenic||||||||99.7295||0.951635|9.52000045776367|LP|filter&vkgl&exit_lp,-|frameshift_variant|HIGH|TTC8|123016|Transcript|NM_144596.4|protein_coding|11/15||NM_144596.4:c.915del|NP_653197.2:p.Met305IlefsTer15|972/2183|915/1548|305/515|M/X|atG/at|rs1431207606|1||1||1|EntrezGene||||||||likely_pathogenic&pathogenic||1|19797195&21052717&16308660&30886724&16877420||||||||18|-4|-9|-4|0.00|0.16|0.00|0.00|TTC8|VUS|0.9968413|||||||AR||LP|7.43531e-06|0.99975|3.97e-06|3.13e-06|0||T|930561|criteria_provided&_multiple_submitters&_no_conflicts|Likely_pathogenic||||||||99.7295||0.951635|9.52000045776367|LP|filter&vkgl&exit_lp,-|frameshift_variant|HIGH|TTC8|123016|Transcript|NM_198309.3|protein_coding|11/15||NM_198309.3:c.885del|NP_938051.1:p.Met295IlefsTer15|1081/2300|885/1518|295/505|M/X|atG/at|rs1431207606|1||1|||EntrezGene||||||||likely_pathogenic&pathogenic||1|19797195&21052717&16308660&30886724&16877420||||||||18|-4|-9|-4|0.00|0.16|0.00|0.00|TTC8|VUS|0.98999304|||||||AR||LP|7.43531e-06|0.99975|3.97e-06|3.13e-06|0||T|930561|criteria_provided&_multiple_submitters&_no_conflicts|Likely_pathogenic||||||||99.7295||0.951635|9.52000045776367|LP|filter&vkgl&exit_lp,-|frameshift_variant|HIGH|TTC8|123016|Transcript|NM_198310.3|protein_coding|10/14||NM_198310.3:c.795del|NP_938052.1:p.Met265IlefsTer15|991/2210|795/1428|265/475|M/X|atG/at|rs1431207606|1||1|||EntrezGene||||||||likely_pathogenic&pathogenic||1|19797195&21052717&16308660&30886724&16877420||||||||18|-4|-9|-4|0.00|0.16|0.00|0.00|TTC8|VUS|0.99751306|||||||AR||LP|7.43531e-06|0.99975|3.97e-06|3.13e-06|0||T|930561|criteria_provided&_multiple_submitters&_no_conflicts|Likely_pathogenic||||||||99.7295||0.951635|9.52000045776367|LP|filter&vkgl&exit_lp,-|non_coding_transcript_exon_variant|MODIFIER|TTC8|123016|Transcript|NR_159362.2|misc_RNA|11/15||NR_159362.2:n.1002del||1002/5304|||||rs1431207606|1||1|||EntrezGene||||||||likely_pathogenic&pathogenic||1|19797195&21052717&16308660&30886724&16877420||||||||18|-4|-9|-4|0.00|0.16|0.00|0.00|TTC8|VUS|0.92329025|||||||AR||LP|7.43531e-06|0.99975|3.97e-06|3.13e-06|0||T|930561|criteria_provided&_multiple_submitters&_no_conflicts|Likely_pathogenic||||||||99.7295||0.951635|9.52000045776367|LP|filter&vkgl&exit_lp;VIPC_S=U2	GT:DP:GQ:VID:VIM:VIPC_S:VIPP_S	0|1:50:50:.:.:.:.	1|0:50:50:.:.:.:.	0|0:50:50:.:.:.:.	0|0:50:50:.:.:.:.	0|0:10:50:.:.:.:.	1|0:50:50:1:0:U2,U1,U2,U2,U2,U2,U2,U1,U2:gt&gq&only_IP&vim&exit_u2,gt&gq&only_IP&vim&exit_u1,gt&gq&only_IP&vim&exit_u2,gt&gq&only_IP&vim&exit_u2,gt&gq&only_IP&vim&exit_u2,gt&gq&only_IP&vim&exit_u2,gt&gq&only_IP&vim&exit_u1,gt&gq&only_IP&vim&exit_u2,gt&gq&only_IP&vim&exit_u2
 chr14	104701523	.	T	G	.	PASS	CSQ=G|missense_variant|MODERATE|INF2|64423|Transcript|NM_001031714.4|protein_coding|2/22||NM_001031714.4:c.158T>G|NP_001026884.3:p.Leu53Arg|289/7566|158/3723|53/1240|L/R|cTg/cGg||1||1|||EntrezGene|||||0|0.999||||||||||||102|-28|-2|37|-2|0.00|0.00|0.00|0.00|INF2|VUS|0.9868581|||||||AD||LP|||||||||||||||||0.845|99.6723|0.94655|0.987499|7.84299993515015|LP|filter&vkgl&exit_lp,G|missense_variant|MODERATE|INF2|64423|Transcript|NM_022489.4|protein_coding|2/23||NM_022489.4:c.158T>G|NP_071934.3:p.Leu53Arg|289/7623|158/3750|53/1249|L/R|cTg/cGg||1||1||1|EntrezGene|||||0|0.999||||||||||||102|-28|-2|37|-2|0.00|0.00|0.00|0.00|INF2|VUS|0.97871566|||||||AD||LP|||||||||||||||||0.845|99.6723|0.94655|0.987499|7.84299993515015|LP|filter&vkgl&exit_lp,G|missense_variant|MODERATE|INF2|64423|Transcript|NM_032714.3|protein_coding|2/5||NM_032714.3:c.158T>G|NP_116103.1:p.Leu53Arg|289/1692|158/705|53/234|L/R|cTg/cGg||1||1|||EntrezGene|||||0|0.999||||||||||||102|-28|-2|37|-2|0.00|0.00|0.00|0.00|INF2|VUS|0.9679642|||||||AD||LP|||||||||||||||||0.845|99.6723|0.94655|0.987499|7.84299993515015|LP|filter&vkgl&exit_lp;VIPC_S=U2	GT:DP:GQ:VID:VIM:VIPC_S:VIPP_S	0|0:50:50:.:.:.:.	0|0:50:50:.:.:.:.	0|0:50:50:.:.:.:.	0|0:50:50:.:.:.:.	0|0:10:50:.:.:.:.	1|0:50:50:1:0:U2,U2,U2:gt&gq&only_IP&vim&exit_u2,gt&gq&only_IP&vim&exit_u2,gt&gq&only_IP&vim&exit_u2
 chr17	31229046	.	AC	A	.	PASS	CSQ=-|frameshift_variant|HIGH|NF1|4763|Transcript|NM_000267.3|protein_coding|21/57||NM_000267.3:c.2433del|NP_000258.1:p.Ile812LeufsTer9|2816/12362|2433/8457|811/2818|T/X|acC/ac||1||1|||EntrezGene|||||||1||||||||||||-22|-11|12|25|0.00|0.00|0.00|0.00|NF1|VUS|0.9995521|||||||AD||LP||||||||||||||||||99.8422||0.987342|3.78200006484985|LP|filter&vkgl&exit_lp,-|frameshift_variant|HIGH|NF1|4763|Transcript|NM_001042492.3|protein_coding|21/58||NM_001042492.3:c.2433del|NP_001035957.1:p.Ile812LeufsTer9|2766/12373|2433/8520|811/2839|T/X|acC/ac||1||1||1|EntrezGene|||||||1||||||||||||-22|-11|12|25|0.00|0.00|0.00|0.00|NF1|VUS|0.9997875|||||||AD||LP||||||||||||||||||99.8422||0.987342|3.78200006484985|LP|filter&vkgl&exit_lp;VIPC_S=U2	GT:DP:GQ:VID:VIM:VIPC_S:VIPP_S	0|0:50:50:.:.:.:.	0|0:50:50:.:.:.:.	0|0:50:50:.:.:.:.	0|0:50:50:.:.:.:.	0|0:10:50:.:.:.:.	1|0:9:50:1:0:U2,U2:gt&gq&only_IP&vim&exit_u2,gt&gq&only_IP&vim&exit_u2
 chr17	31336861	.	T	G	.	PASS	CSQ=G|missense_variant|MODERATE|NF1|4763|Transcript|NM_000267.3|protein_coding|41/57||NM_000267.3:c.6311T>G|NP_000258.1:p.Leu2104Arg|6694/12362|6311/8457|2104/2818|L/R|cTg/cGg|rs1597843129&CM141499&CM143458|1||1|||EntrezGene|||||0|0.991||likely_pathogenic|0&1&1|1&1&1|24413922|||||||102|-42|41|-34|8|0.00|0.00|0.00|0.00|NF1|VUS|0.9602681|||||||AD||LP||||||||996527|criteria_provided&_multiple_submitters&_no_conflicts|Likely_pathogenic|||||||0.861|99.6657|0.99296|0.98798|7.49399995803833|LP|filter&vkgl&exit_lp,G|missense_variant|MODERATE|NF1|4763|Transcript|NM_001042492.3|protein_coding|42/58||NM_001042492.3:c.6374T>G|NP_001035957.1:p.Leu2125Arg|6707/12373|6374/8520|2125/2839|L/R|cTg/cGg|rs1597843129&CM141499&CM143458|1||1||1|EntrezGene|||||0|0.993||likely_pathogenic|0&1&1|1&1&1|24413922|||||||102|-42|41|-34|8|0.00|0.00|0.00|0.00|NF1|VUS|0.98705053|||||||AD||LP||||||||996527|criteria_provided&_multiple_submitters&_no_conflicts|Likely_pathogenic|||||||0.861|99.6657|0.99296|0.98798|7.49399995803833|LP|filter&vkgl&exit_lp;VIPC_S=U2	GT:DP:GQ:VID:VIM:VIPC_S:VIPP_S	0|0:50:50:.:.:.:.	0|0:50:50:.:.:.:.	0|0:50:50:.:.:.:.	0|0:50:50:.:.:.:.	0|0:10:50:.:.:.:.	1|0:50:50:1:0:U2,U2:gt&gq&only_IP&vim&exit_u2,gt&gq&only_IP&vim&exit_u2