Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SPATA13_chr13_24155720_24312069	24190020	C C	CATATAAT others(386): Show CATATAATGATATACAATATATATCATTATATAACATAATGATATATATT ATATATCATTATATAACATATAATGATATATATTATATATCATTATATAA CATATAATGATATATAATATATATCATTATATAACATATAATGATATATA TATCATTATATAACATATAATGATATATAATATATATCATTATATAACAT ATAATGATATATATATCATTATATAACATATAATGATATATATATCATTA TATAACATATAATGATATATAATATATATCATTATATAACATATAATGAT ATATAATATATATCATTATATAACATATAATGATATATAATATATATCAT TATATAACATATAATGATATATAATATATATCATTATATAACAT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0190 a0001c0001t0002g0190	1	111	0.0090	393	c.-11 others(414): Show c.-112+29091_-112+29092insTAATGATATACAATATATATCATT ATATAACATAATGATATATATTATATATCATTATATAACATATAATGATA TATATTATATATCATTATATAACATATAATGATATATAATATATATCATT ATATAACATATAATGATATATATATCATTATATAACATATAATGATATAT AATATATATCATTATATAACATATAATGATATATATATCATTATATAACA TATAATGATATATATATCATTATATAACATATAATGATATATAATATATA TCATTATATAACATATAATGATATATAATATATATCATTATATAACATAT AATGATATATAATATATATCATTATATAACATATAATGATATATAATATA TATCATTATATAACATATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATA13_chr13_24155720_24312069	24190020	C C	CATATAAT others(386): Show CATATAATGATATACAATATATATCATTATATAACATAATGATATATATT ATATATCATTATATAACATATAATGATATATATTATATATCATTATATAA CATATAATGATATATAATATATATCATTATATAACATATAATGATATATA TATCATTATATAACATATAATGATATATATATCATTATATAACATATAAT GATATATATATCATTATATAACATATAATGATATATAATATATATCATTA TATAACATATAATGATATATAATATATATCATTATATAACATATAATGAT ATATAATATATATCATTATATAACATATAATGATATATAATATATATCAT TATATAACATATAATGATATATAATATATATCATTATATAACAT	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0011 a0001c0005t0011	a0001c0005t0011g0315 a0001c0005t0011g0315	1	111	0.0090	393	c.-11 others(414): Show c.-112+29091_-112+29092insTAATGATATACAATATATATCATT ATATAACATAATGATATATATTATATATCATTATATAACATATAATGATA TATATTATATATCATTATATAACATATAATGATATATAATATATATCATT ATATAACATATAATGATATATATATCATTATATAACATATAATGATATAT ATATCATTATATAACATATAATGATATATATATCATTATATAACATATAA TGATATATAATATATATCATTATATAACATATAATGATATATAATATATA TCATTATATAACATATAATGATATATAATATATATCATTATATAACATAT AATGATATATAATATATATCATTATATAACATATAATGATATATAATATA TATCATTATATAACATATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATA13_chr13_24155720_24312069	24190020	C C	CATATAAT others(386): Show CATATAATGATATACAATATATATCATTATATAACATAATGATATATATT ATATATCATTATATAACATATAATGATATATATTATATATCATTATATAA CATATAATGATATATATATCATTATATAACATATAATGATATATATATCA TTATATAACATATAATGATATATATATCATTATATAACATATAATGATAT ATAATATATATCATTATATAACATATAATGATATATAATATATATCATTA TATAACATATAATGATATATAATATATATCATTATATAACATATAATGAT ATATAATATATATCATTATATAACATATAATGATATATAATATATATCAT TATATAACATATAATGATATATAATATATATCATTATATAACAT	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0017 a0001c0005t0017	a0001c0005t0017g0277 a0001c0005t0017g0277	1	111	0.0090	393	c.-11 others(414): Show c.-112+29091_-112+29092insTAATGATATACAATATATATCATT ATATAACATAATGATATATATTATATATCATTATATAACATATAATGATA TATATTATATATCATTATATAACATATAATGATATATATATCATTATATA ACATATAATGATATATATATCATTATATAACATATAATGATATATATATC ATTATATAACATATAATGATATATAATATATATCATTATATAACATATAA TGATATATAATATATATCATTATATAACATATAATGATATATAATATATA TCATTATATAACATATAATGATATATAATATATATCATTATATAACATAT AATGATATATAATATATATCATTATATAACATATAATGATATATAATATA TATCATTATATAACATATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(386): Show AGGGGAGGGGAGGGAAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGGGAGGGGAGGGGGAGGG GGGGGGAGGGGAGGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGGGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGAGGGGAG GGGGAGGGGGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGGGGAGGGGAGG GGGGGAGGGGAGGGGAGGGGAGGGGGGGAGGGGAGGGGGGGAGGGGAGGG GAGGGGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0194 a0002c0002t0002g0194	1	6	0.1667	393	c.138 others(412): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCCCCTCC CCTCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCCCCCTCCCCTCCCCT CCCCTCCCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCCCCCCTCCCCTCCCCTCCCCTCCCCCCC TCCCCCTCCCCTCCCCCCCCCTCCCCCTCCCCTCCCCCCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCC CCTTCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(386): Show AGGGGAGGGGAGGGAAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGG AGGGGGAGGGGAGGGGAGGGGAGGGAGGGGAGGGGGGGGAGGGGAGGGGG AGGGGGGGGAGGGGAGGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGGG GGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGGGAGGGGAGGG GGAGGGGGGGGAGGGGAGGGGAGGGGAGGGGGGGGGAGGGGAGGGGAGGG GGGGGAGGGGAGGGGAGGGGAGGGGGGGAGGGGAGGGGGGGAGGGGAGGG GAGGGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0222 a0002c0002t0002g0222	1	6	0.1667	393	c.138 others(412): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCTCCCCTCCC CTCCCCTCCCCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCCCCTCC CCTCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCCCCCCTCCCCTCCC CTCCCCTCCCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCTCCCCCCCTCC CCCTCCCCTCCCCCCCCTCCCCCTCCCCTCCCCCCCCTCCCCTCCCTCCC CTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCC CCTTCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(386): Show AGGGGAGGGGAGGGGAAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGGGGGAGGGGAGGGGGAGGGGGGGGAGGGGAGGGGGAGGGGG GGAGGGGAGGGGGAGGGGGGGAGGGGAGGGAGGGGAGGGGGGGGGAGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGGAG GGGGGGGAGGGGAGGGGAGGGGAGGGGGGGGGAGGGGAGGGGAGGGGAGG GGGGGGAGGGGAGGGGAGGGGAGGGGGGGAGGGGAGGGGGGGAGGGGAGG GGAGGGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0220 a0002c0002t0002g0220	1	6	0.1667	393	c.138 others(412): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCCCCTCCC CTCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCTCCCCCCCCCTCCCC TCCCCTCCCCTCCCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCCCCCCTCCCCTCCCTCCCCTCCC CCCCTCCCCCTCCCCTCCCCCCCTCCCCCTCCCCTCCCCCCCCTCCCCCT CCCCTCCCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCC CTTCCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
STXBP6_chr14_24804454_25055147	24965340	T T	TTGCTGTT others(386): Show TTGCTGTTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGATTCTATATT TGGAAGTTATCCTTCCATATTTTTGTACAGCTTTAAAAATTATCACCGGT ACATCTCTACAAAATGTATCAATAATATGTTAAACAGCACAAAATTTAGA GTTTATAGGAAATCCACTAAAACCTGTACATAAAGTTGACATTGATCCTT TGGCCACTAGTCCTTGAGCCTAGTTCTTTATTTCACTGTGAGTCCATCTA ACTGGAGTTTCATCCTGGCCACAGTGCGTAATATTGTCATCAAGTATTCA CTAATTTTGGAATGAGGTTGAAAATACATAAATAATATGTCTGTTTCATC GTAACAATAAAACTTAGTTTCAGAAAAACTACATGACTTATCAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00741.hp2 HG01069.hp1 others(9): Show HG00642.hp1 HG00741.hp2 HG01069.hp1 HG01081.hp1 HG02257.hp1 HG02622.hp1 HG02895.hp1 HG02922.hp1 HG03130.hp1 HG03209.hp2 HG04115.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(7): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0033 a0001c0001t0037 a0001c0001t0054 a0001c0001t0080 a0001c0001t0081 a0001c0001t0092 a0001c0001t0093	a0001c0001t0002g0022 a0001c0001t0002g0025 a0001c0001t0002g0027 others(9): Show a0001c0001t0002g0022 a0001c0001t0002g0025 a0001c0001t0002g0027 a0001c0001t0004g0024 a0001c0001t0005g0018 a0001c0001t0033g0174 a0001c0001t0037g0167 a0001c0001t0054g0014 a0001c0001t0080g0168 a0001c0001t0081g0169 a0001c0001t0092g0176 a0001c0001t0093g0173	12	230	0.0522	393	c.154 others(410): Show c.154+9324_154+9325insTTGATAAGTCATGTAGTTTTTCTGAAAC TAAGTTTTATTGTTACGATGAAACAGACATATTATTTATGTATTTTCAAC CTCATTCCAAAATTAGTGAATACTTGATGACAATATTACGCACTGTGGCC AGGATGAAACTCCAGTTAGATGGACTCACAGTGAAATAAAGAACTAGGCT CAAGGACTAGTGGCCAAAGGATCAATGTCAACTTTATGTACAGGTTTTAG TGGATTTCCTATAAACTCTAAATTTTGTGCTGTTTAACATATTATTGATA CATTTTGTAGAGATGTACCGGTGATAATTTTTAAAGCTGTACAAAAATAT GGAAGGATAACTTCCAAATATAGAATCAAAAAAAAAAAAAAAAAAAAAAA AAAAAGACAACAGCA	STXBP6	ENSG00000168952.16	transcript	ENST00000323944.10	protein_coding	2/5			chr14	TogoVar
SUFU_chr10_102498972_102638535	102637656	G G	GATTATAA others(386): Show GATTATAAAATATAATCATATATAATATATGATTATAAAATATAATCATA TATTATATATGATTATAAAATATAATTATATATTATATATGATTATAAAA TATAATTATATATTATATATGATTATAAAATATAATTATATATATTATAT ATGATTATAAAATATAATTATATATTATATATGATTATAAAATATAATTA TATATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAA TTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTAT ATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATAT GATTATAAAATATAATTATATATGATTATAAAATATAATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG01943.hp2 NA18962.hp2 others(1): Show HG01433.hp2 HG01943.hp2 NA18962.hp2 NA18979.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0030 a0001c0002t0002 a0001c0002t0030	a0001c0002t0002g0046 a0001c0002t0002g0054 a0001c0002t0002g0063 others(1): Show a0001c0002t0002g0046 a0001c0002t0002g0054 a0001c0002t0002g0063 a0001c0002t0030g0089	4	12	0.3333	393	c.75 others(404): Show c.7501_*7502insATTATAAAATATAATCATATATAATATATGATTA TAAAATATAATCATATATTATATATGATTATAAAATATAATTATATATTA TATATGATTATAAAATATAATTATATATTATATATGATTATAAAATATAA TTATATATATTATATATGATTATAAAATATAATTATATATTATATATGAT TATAAAATATAATTATATATTATATATGATTATAAAATATAATTATATAT GATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATT ATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAA AATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATA TAATTATAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4122		chr10	TogoVar
SYT2_chr1_202585596_202715454	202672778	G G	GGAGGGGG others(386): Show GGAGGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGGGGGAGG GGGGAGAGAGGGGGAGGGGGGGAGAGAGGGGGAGGGAGGGGGGGAGAGAG GGGGGAGAGGGGGAGGGAGGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGG GAGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGG AGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGG GGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAG GGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGGG GGAGAGAGAGGGGGGAGGGAGGGAGGGAGGGAGGGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0256 a0001c0002t0008g0256	1	108	0.0093	393	c.-18 others(412): Show c.-18+37479_-18+37480insTCTCTCTCTCCCTCCCTCCCTCCCTC CCTCCCCCCTCTCTCTCCCCCCCTCCCCCTCTCTCTCCCCCCTCCCTCCC CCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTC TCTCTCCCCCCTCCCTCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTC CCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTC CCCCTCTCTCTCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCC TCCCTCCCCCTCTCCCCCCTCTCTCCCCCCCTCCCTCCCCCTCTCTCCCC CCCTCCCCCTCTCTCCCCCCTCCCCCTCTCTCCCCCCTCCCTCCCTCCCC CTCTCTCTCCCCCCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
SYTL3_chr6_158645054_158769871	158701175	G G	GGTGAGCT others(386): Show GGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGG AGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAA GGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATG AAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGA TGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTA GATGAAGGGCTGTCTGGGGGAGGAGCCGTGGGAAGAGGGTCATGGAGGAG TGTGAGCTGGGGTGTACATGAAGGACTGTCTGGGGGGAGGAGCCATGGGG AGAGGGTCATGGAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGT	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0043 a0003c0006t0001g0043	1	232	0.0043	393	c.395 others(410): Show c.395-5824_395-5823insAGTGTGAGCTGGGGTGTAGATGAAGGGC TGTCTGGGGGAGGAGCCGTGGGAAGAGGGTCATGGAGGAGTGTGAGCTGG GGTGTACATGAAGGACTGTCTGGGGGGAGGAGCCATGGGGAGAGGGTCAT GGAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAG ATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGT AGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGT GTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGG GTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTG GGGTGTAGATGAAGG	SYTL3	ENSG00000164674.17	transcript	ENST00000611299.5	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
TAF4_chr20_61969798_62070881	61985041	T T	TGTGGTAT others(386): Show TGTGGTATGGGGAGGGAAGGGGTGGCAGGGGAGGGAGGGTGCAGTGGGGG GAGGGTGTGGTGGGGGAGGGAGGTTGTGGTGGGGGGAAGGAGGAGACGGC AGGGAAAGGAGGGGGTGGTGGGGGGAGGGAGGGGGCGGCGGGGAGAGGGA GGGGTGGCGGGGGTAGGGAGGGCATGGGGGGGAGGGAGGGTGCAGCAGGG GGATGGAGGGCGTGGGGGGAGGGAGGGGGCGGCGGGGGGAGGGAGGGCGT GGGGGGGGAGGGAGGGTGTGGGGGGAGGGAGGGGGCGGCGGGAGGAGGGA GGGGGCGGCGGGAGGAGGGAGGGGGCGGCGGGAGGAGGGAGGGGGCGGCG GGAGGAGGGAGGGCATGGGGGGAGGGAGGGGGCGGCGGGGGGAG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0189 a0001c0004t0001g0189	1	72	0.0139	393	c.309 others(412): Show c.3091-8707_3091-8706insCTCCCCCCGCCGCCCCCTCCCTCCCC CCATGCCCTCCCTCCTCCCGCCGCCCCCTCCCTCCTCCCGCCGCCCCCTC CCTCCTCCCGCCGCCCCCTCCCTCCTCCCGCCGCCCCCTCCCTCCCCCCA CACCCTCCCTCCCCCCCCACGCCCTCCCTCCCCCCGCCGCCCCCTCCCTC CCCCCACGCCCTCCATCCCCCTGCTGCACCCTCCCTCCCCCCCATGCCCT CCCTACCCCCGCCACCCCTCCCTCTCCCCGCCGCCCCCTCCCTCCCCCCA CCACCCCCTCCTTTCCCTGCCGTCTCCTCCTTCCCCCCACCACAACCTCC CTCCCCCACCACACCCTCCCCCCACTGCACCCTCCCTCCCCTGCCACCCC TTCCCTCCCCATACCAC	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	14/14			chr20	TogoVar
TAF4_chr20_61969798_62070881	61985041	T T	TGTGGTAT others(386): Show TGTGGTATGGGGAGGGAAGGGGTGGCAGGGGAGGGAGGGTGCAGTGGGGG GAGGGTGTGGTGGGGGAGGGAGGTTGTGGTGGGGGGAAGGAGGAGACGGC GGGGAAAGGAGGGGGTGGTGGGGGGAGGGAGGGGGCGGCGGGGAGAGGGA GGGGTGGCGGGGGTAGGGAGGGCATGGGGGGGAGGGAGGGTGCAGCAGGG GGATGGAGGGCGTGGGGGGAGGGAGGGGGCGGCGGGGGGGAGGGAGGGCG TGGGGGGGGAGGGAGGGCGTGGGGGGGGAGGGAGGGCGTGGGGGGGGGAG GGAGGGTGTGGGGGGAGGGAGGGGGCGGCGGGAGGAGGGAGGGGGCGGCG GGAGGAGGGAGGGCATGGGGGGAGGGAGGGGGCGGCGGGGGGAG	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02717.hp1 HG02965.hp2 others(1): Show HG01123.hp1 HG02717.hp1 HG02965.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0173 others(1): Show a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0173 a0001c0001t0001g0174	4	75	0.0533	393	c.309 others(412): Show c.3091-8707_3091-8706insCTCCCCCCGCCGCCCCCTCCCTCCCC CCATGCCCTCCCTCCTCCCGCCGCCCCCTCCCTCCTCCCGCCGCCCCCTC CCTCCCCCCACACCCTCCCTCCCCCCCCCACGCCCTCCCTCCCCCCCCAC GCCCTCCCTCCCCCCCCACGCCCTCCCTCCCCCCCGCCGCCCCCTCCCTC CCCCCACGCCCTCCATCCCCCTGCTGCACCCTCCCTCCCCCCCATGCCCT CCCTACCCCCGCCACCCCTCCCTCTCCCCGCCGCCCCCTCCCTCCCCCCA CCACCCCCTCCTTTCCCCGCCGTCTCCTCCTTCCCCCCACCACAACCTCC CTCCCCCACCACACCCTCCCCCCACTGCACCCTCCCTCCCCTGCCACCCC TTCCCTCCCCATACCAC	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	14/14			chr20	TogoVar
TAF4_chr20_61969798_62070881	61985041	T T	TGTGGTAT others(386): Show TGTGGTATGGGGAGGGAAGGGGTGGCAGGGGAGGGAGGGTGCAGTGGGGG GAGGGTGTGGTGGGGGAGGGAGGTTGTGGTGGGGGGAAGGAGGAGACGGC GGGGAAAGGAGGGGGTGGTGGGGGGAGGGAGGGGGCGGCGGGGAGAGGGA GGGGTGGCGGGGGTAGGGAGGGCATGGGGGGGAGGGAGGGTGCAGCAGGG GGATGGAGGGCGTGGGGGGAGGGAGGGGGCGGCGGGGGGGAGGGAGGGCG TGGGGGGGGAGGGAGGGCGTGGGGGGGGAGGGAGGGTGTGGGGGGAGGGA GGGGGCGGCGGGAGGAGGGAGGGGGCGGCGGGAGGAGGGAGGGGGCGGCG GGAGGAGGGAGGGCATGGGGGGAGGGAGGGGGCGGCGGGGGGAG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02451.hp1 HG02559.hp1 others(5): Show HG00738.hp2 HG02451.hp1 HG02559.hp1 HG02895.hp1 HG02897.hp1 HG03139.hp1 HG03834.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0023 a0001c0001 a0001c0023	a0001c0001t0001 a0001c0023t0001 a0001c0001t0001 a0001c0023t0001	a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(5): Show a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0109 a0001c0023t0001g0033	8	79	0.1013	393	c.309 others(412): Show c.3091-8707_3091-8706insCTCCCCCCGCCGCCCCCTCCCTCCCC CCATGCCCTCCCTCCTCCCGCCGCCCCCTCCCTCCTCCCGCCGCCCCCTC CCTCCTCCCGCCGCCCCCTCCCTCCCCCCACACCCTCCCTCCCCCCCCAC GCCCTCCCTCCCCCCCCACGCCCTCCCTCCCCCCCGCCGCCCCCTCCCTC CCCCCACGCCCTCCATCCCCCTGCTGCACCCTCCCTCCCCCCCATGCCCT CCCTACCCCCGCCACCCCTCCCTCTCCCCGCCGCCCCCTCCCTCCCCCCA CCACCCCCTCCTTTCCCCGCCGTCTCCTCCTTCCCCCCACCACAACCTCC CTCCCCCACCACACCCTCCCCCCACTGCACCCTCCCTCCCCTGCCACCCC TTCCCTCCCCATACCAC	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	14/14			chr20	TogoVar
TAF4_chr20_61969798_62070881	61985041	T T	TGTGGTAT others(386): Show TGTGGTATGGGGAGGGAAGGGGTGGCAGGGGAGGGAGGGTGCAGTGGGGG GAGGGTGTGGTGGGGGAGGGAGGTTGTGGTGGGGGGAAGGAGGAGACGGC GGGGAAAGGAGGGGGTGGTGGGGGGAGGGAGGGGGCGGCGGGGAGAGGGA GGGGTGGCGGGGGTAGGGAGGGCATGGGGGGGAGGGAGGGTGCAGCAGGG GGATGGAGGGCGTGGGGGGAGGGAGGGGGCGGCGGGGGGGAGGGAGGGCG TGGGGGGGGAGGGAGGGCGTGGGGGGGGAGGGAGGGTGTGGGGGGAGGGA GGGGGCGGCGGGAGGAGGGAGGGGGCGGCGGGAGGAGGGAGGGTGCGGCG GGAGGAGGGAGGGCATGGGGGGAGGGAGGGGGCGGCGGGGGGAG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	72	0.0139	393	c.309 others(412): Show c.3091-8707_3091-8706insCTCCCCCCGCCGCCCCCTCCCTCCCC CCATGCCCTCCCTCCTCCCGCCGCACCCTCCCTCCTCCCGCCGCCCCCTC CCTCCTCCCGCCGCCCCCTCCCTCCCCCCACACCCTCCCTCCCCCCCCAC GCCCTCCCTCCCCCCCCACGCCCTCCCTCCCCCCCGCCGCCCCCTCCCTC CCCCCACGCCCTCCATCCCCCTGCTGCACCCTCCCTCCCCCCCATGCCCT CCCTACCCCCGCCACCCCTCCCTCTCCCCGCCGCCCCCTCCCTCCCCCCA CCACCCCCTCCTTTCCCCGCCGTCTCCTCCTTCCCCCCACCACAACCTCC CTCCCCCACCACACCCTCCCCCCACTGCACCCTCCCTCCCCTGCCACCCC TTCCCTCCCCATACCAC	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	14/14			chr20	TogoVar
TERT_chr5_1248167_1300068	1273699	C C	CCACACAT others(386): Show CCACACATCAGACCCCTGTGACCGATCACCATCCACAGTCACCACACATC AGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCC ATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCA CACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCA CGACTGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAG TCACCACACATCAGACCCCACGACTGCCATCCACAGTCACCACATCAGAC CCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCC ACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0196 a0001c0001t0002g0196	1	247	0.0040	393	c.228 others(412): Show c.2287-1420_2287-1419insTGGTGACTGTGGATGGCGGTCGTGGG GTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACT GTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCAGTCGTG GGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGT GACTGTGGATGGCAGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCG GTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGA TGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGG ATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGTGATCGGTCA CAGGGGTCTGATGTGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TMPRSS9_chr19_2355265_2431261	2377592	C C	CTCTCCCC others(386): Show CTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCCCCCCCTCCTCTCCCCTC CCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTTCT CTCTCCTCCCCTCCTCTCTCTTCCCCTCTCCTCCCCTCTCTCCTCTCCTC CCCTCTCCTCCCCTCTCCCCTCTCCTCTCTCCTCCCCTCTCCCCTCCCCT CGCCCTTCCCCTCCCCTCGCCCTTCCCCTCTTCCCTCCCCTCTCCCCTCT CCCCTCCCCTCCCATCTCCCCTCTCATCTCCCCTCTCCCCTCCTCTCCCC TTCCCTCCCGTCCCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCT CCCCTCCCCTCTCCCCTTCCCTCCCCTCCCCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0069 a0002c0002t0001g0069	1	46	0.0217	393	c.-25 others(412): Show c.-25-12167_-25-12166insTCCCCTCCCCTCTCCCCTCCCCTCTC CCCCCCCCCTCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTC TCCCCTCTCCCCTCCCCTTCTCTCTCCTCCCCTCCTCTCTCTTCCCCTCT CCTCCCCTCTCTCCTCTCCTCCCCTCTCCTCCCCTCTCCCCTCTCCTCTC TCCTCCCCTCTCCCCTCCCCTCGCCCTTCCCCTCCCCTCGCCCTTCCCCT CTTCCCTCCCCTCTCCCCTCTCCCCTCCCCTCCCATCTCCCCTCTCATCT CCCCTCTCCCCTCCTCTCCCCTTCCCTCCCGTCCCCTCTCCCCTTCCCTC CCCTCCCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCC CCTCCCCCTCCCCCTTC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TMPRSS9_chr19_2355265_2431261	2377592	C C	CTCTCCCC others(386): Show CTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCCCCCTCCTCTCCCCTCCC CTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTTCTCT CTCCTCCCCTCCTCTCTCTTCCCCTCTCCTCCCCTCTCTCCTCTCCTCCC CTCTCCTCCCCTCTCCCCTCTCCTCTCTCCTCCCCTCTCCCCTCCCCTCG CCCTTCCCCTCCCCTCGCCCTTCCCCTCTTCCCTCCCCTCTCCCCTCTCC CCTCCCCTCCCATCTCCCCTCTCATCTCCCCTCTCCCCTCCTCTCCCCTT CCCTCCCGTCCCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCC CCTCCCCTCTCCCCTTCCCTCCCCCTCCCCTCCCCCTCCCCCCT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0050 a0002c0002t0001g0050	1	46	0.0217	393	c.-25 others(412): Show c.-25-12167_-25-12166insTCCCCTCCCCTCTCCCCTCCCCTCTC CCCCCCCTCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTC CCCTCTCCCCTCCCCTTCTCTCTCCTCCCCTCCTCTCTCTTCCCCTCTCC TCCCCTCTCTCCTCTCCTCCCCTCTCCTCCCCTCTCCCCTCTCCTCTCTC CTCCCCTCTCCCCTCCCCTCGCCCTTCCCCTCCCCTCGCCCTTCCCCTCT TCCCTCCCCTCTCCCCTCTCCCCTCCCCTCCCATCTCCCCTCTCATCTCC CCTCTCCCCTCCTCTCCCCTTCCCTCCCGTCCCCTCTCCCCTTCCCTCCC CTCCCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCCTCCC CTCCCCCTCCCCCCTTC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
VRK2_chr2_58041806_58164871	58137182	C C	CATATATA others(386): Show CATATATATCATATATGATACATGTATCGTATATGATACATGTATCATAT ATATGATACATGTATCATATATATGATACATATATATCATATATATGATA CATATATATCATATATATGATACATGTATCATATATATGATACATGTATC ATATATATGATACATATATATCATATATATGATACATATATATCATATAT ATGATACATATATATCATATATATGATACATATGTATCATATATATGATA CATATGTATCATATATATGATACATATATATCATATATATGATACATATA TATCATATATATGATACATATGTATCATATATATGATACATATGTATCAT ATATATGATACATATATATCATATATATGATACATATATATCAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0256 a0001c0003t0001g0256	1	236	0.0042	393	c.856 others(410): Show c.856+1989_856+1990insATCATATATGATACATGTATCGTATATG ATACATGTATCATATATATGATACATGTATCATATATATGATACATATAT ATCATATATATGATACATATATATCATATATATGATACATGTATCATATA TATGATACATGTATCATATATATGATACATATATATCATATATATGATAC ATATATATCATATATATGATACATATATATCATATATATGATACATATGT ATCATATATATGATACATATGTATCATATATATGATACATATATATCATA TATATGATACATATATATCATATATATGATACATATGTATCATATATATG ATACATATGTATCATATATATGATACATATATATCATATATATGATACAT ATATATCATATATAT	VRK2	ENSG00000028116.18	transcript	ENST00000340157.9	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
WDR87_chr19_37879823_37911594	37881138	T T	TAATATAT others(386): Show TAATATATATATAATATATATTATATATATAATATATATATATTATATAT ATAATATATATATTTAATATATATATTATATATATAATATATATTATATA TATAATATATATATTTAATATATATTATATATATAATATATATATTATAT ATATAATATATATATAATATATATATTATATATATAATATATATTATATA TATAATATATATATTTAATATATATATTATATATATAATATATATTATAT ATATAATATATATATTTAATATATATTATATATATAATATATATATTATA TATATAATATATATATAATATATATATTATATATATAATATATATATTAT ATATATATTATATATATATTATATATATATAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0005 a0003c0004t0001g0005	1	49	0.0204	393	c.37 others(404): Show c.3793_*3794insCTCTCTCTCTCTCTATATATATATAATATATATA TAATATATATATAATATATATATTATATATATAATATATATATTATATAT ATATTATATATATAATATATATATTATATATATAATATATATTAAATATA TATATTATATATATAATATATATTATATATATAATATATATATTAAATAT ATATATTATATATATAATATATATTATATATATAATATATATATTATATA TATATTATATATATAATATATATATTATATATATAATATATATTAAATAT ATATATTATATATATAATATATATTATATATATAATATATATATTAAATA TATATATTATATATATAATATATATATATTATATATATAATATATATTAT ATATATATT	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3684		chr19	TogoVar
ZNF365_chr10_62369369_62407450	62370969	G G	GATATATA others(386): Show GATATATATGGTATATATGATATATATCATATATATCATATGTGATATAT ATGATACATATGACATATATCATATGTGATACATATGACATATATCATAT GTGATACATATGACATATATCATATGTGATACATATGACATATATCATAT GTGATACATATGACATATATCATATGTGATACATATGACATATATCATAT GTGATATATGTCACATATATCATATGTGATATATGTCACATATATCACAT GTGATATATATCATATATATCATATATATGATATATATCATATATATCAT ATATATGATATATATCATATATCATATATATGATATATATCACATATATA TATCATATATATCACATATATATCATATATATCATATATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0004 a0005c0004t0004	a0005c0004t0004g0017 a0005c0004t0004g0017	1	253	0.0040	393	c.-35 others(404): Show c.-3503_-3502insATATATATGGTATATATGATATATATCATATATA TCATATGTGATATATATGATACATATGACATATATCATATGTGATACATA TGACATATATCATATGTGATACATATGACATATATCATATGTGATACATA TGACATATATCATATGTGATACATATGACATATATCATATGTGATACATA TGACATATATCATATGTGATATATGTCACATATATCATATGTGATATATG TCACATATATCACATGTGATATATATCATATATATCATATATATGATATA TATCATATATATCATATATATGATATATATCATATATCATATATATGATA TATATCACATATATATATCATATATATCACATATATATCATATATATCAT ATATATATC	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3399		chr10	TogoVar
ZNF516_chr18_76352682_76500242	76401788	C C	CCCCCGCG others(386): Show CCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCCGCGCCGCACCCC TCCACCACCAACCACACCCCCGCGCCGCACCCCTCCACCACCAACCACAC CCCCGCGCCGCACCCCTCCACCACCAACCACACCCCCGCGCCGCACCTCT CCACCACCAACCACACCCCCGCGCCGCACCCCTCCACCACCAACCACACC CCCGCGCCGCACCCCTCCACCACCAACCACAGCCCCGCGCCGCACCCCTC CACCACCAACCACACCCCCGCGCTCCATCTCTCCACCAACCACACCCCCG CGCCGCACCCCTCCACCACCAACCACACCCCCGCGCCGCACCCCTCCACC ACCAACCACAGCCCCGCGCCGCACCCCTCCACCACCAACCACAG	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0316 a0001c0001t0012g0316	1	37	0.0270	393	c.181 others(414): Show c.1811-21486_1811-21485insCTGTGGTTGGTGGTGGAGGGGTGC GGCGCGGGGCTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTT GGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGAGAGATGGAGCG CGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGCTGTGGTTGGTG GTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGC GGGGGTGTGGTTGGTGGTGGAGAGGTGCGGCGCGGGGGTGTGGTTGGTGG TGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCG GGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGT GGAGGGGTGCGGCGCGGGG	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF605_chr12_132913306_132961306	132939901	T T	TTAAGAGC others(386): Show TTAAGAGCTGTAACACTCACCGCGAAGGTCTGCAGCTTCACTCCTGAGCC AGCGAGACCACGAACCCACCAGAAGGAAGAAACTCCGAACACAGCTGAAC ATCAGAAGGGACAGACTCCAGACGTGCCACCCTAAGAGCTGTAACACTCA CCGCGAAGGTCTGCAGCTTCACTCCTGAGCCAGCGAGACCACGAACCCAC CAGAAGGAAGAAACTCCGAACACAGCTGAACATCAGAAGGGACAGACTCC AGACGTGCCACCCTAAGAGCTGTAACACTCACCGCGAAGGTCTGCAGCTT CACTCCTGAGCCAGCGAGACCACGAACCCACCAGAAGGAAGAAACTCCGA ACACAGCTGAACATCAGAAGGGACAGACTCCAGACGTGCCACCC	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0041 a0003c0007t0041	a0003c0007t0041g0115 a0003c0007t0041g0115	1	113	0.0088	393	c.15+ others(408): Show c.15+5719_15+5720insGGGTGGCACGTCTGGAGTCTGTCCCTTCTG ATGTTCAGCTGTGTTCGGAGTTTCTTCCTTCTGGTGGGTTCGTGGTCTCG CTGGCTCAGGAGTGAAGCTGCAGACCTTCGCGGTGAGTGTTACAGCTCTT AGGGTGGCACGTCTGGAGTCTGTCCCTTCTGATGTTCAGCTGTGTTCGGA GTTTCTTCCTTCTGGTGGGTTCGTGGTCTCGCTGGCTCAGGAGTGAAGCT GCAGACCTTCGCGGTGAGTGTTACAGCTCTTAGGGTGGCACGTCTGGAGT CTGTCCCTTCTGATGTTCAGCTGTGTTCGGAGTTTCTTCCTTCTGGTGGG TTCGTGGTCTCGCTGGCTCAGGAGTGAAGCTGCAGACCTTCGCGGTGAGT GTTACAGCTCTTA	ZNF605	ENSG00000196458.11	transcript	ENST00000360187.9	protein_coding	3/4			chr12	TogoVar
ZNF85_chr19_20918251_20955697	20919183	A A	ATATATAT others(386): Show ATATATATACAAGTATATATATACTTGTATACATATATACTATATATATA CATATATACACATATATACGTATATATGTATATATACATATATACACGTA TATACGTATATACATGTATATACGTATATATACACATATATACATGTATA TATACGTATATATACACATATATACATGTATATATATACGTATATATACA CATATATACATGTATATATATATACGTATATATACATATATACGTATATA TATACGTATATATACATATATACATGTATATATATATACGTATATATACA TATATACATGTATATATATATACGTATATACACATATATATACATGTATA TATATGTGTATATATACATGTATATATACATATATATACATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	212	0.0047	393	c.-42 others(404): Show c.-4218_-4217insTATATATACAAGTATATATATACTTGTATACATA TATACTATATATATACATATATACACATATATACGTATATATGTATATAT ACATATATACACGTATATACGTATATACATGTATATACGTATATATACAC ATATATACATGTATATATACGTATATATACACATATATACATGTATATAT ATACGTATATATACACATATATACATGTATATATATATACGTATATATAC ATATATACGTATATATATACGTATATATACATATATACATGTATATATAT ATACGTATATATACATATATACATGTATATATATATACGTATATACACAT ATATATACATGTATATATATGTGTATATATACATGTATATATACATATAT ATACATGTG	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4067		chr19	TogoVar
ZNF85_chr19_20918251_20955697	20919183	A A	ATATATAT others(386): Show ATATATATACAAGTATATATATACTTGTATACATATATACTATATATATA CATATATACACATATATACGTATATATGTATATATACATATATACATGTA TATACGTATATACATGTATATACGTATATATACACATATATACATGTACA TATACGTATATATACACATATATACATGTATATATATACGTATATATACA CATATATACATGTATATATATATACGTATATATACACATATACGTATATA TATACGTATATATACATATATACATGTATATATATATACGTATATATACA TATATACATGTATATATATATACGTATATACACATATATATACATGTATA TATATGTGTATATATACATGTATATATACATATATATACATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18998.hp1 NA19003.hp1 NA18998.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0065 a0001c0001t0001g0005 a0001c0001t0001g0065	2	213	0.0094	393	c.-42 others(404): Show c.-4218_-4217insTATATATACAAGTATATATATACTTGTATACATA TATACTATATATATACATATATACACATATATACGTATATATGTATATAT ACATATATACATGTATATACGTATATACATGTATATACGTATATATACAC ATATATACATGTACATATACGTATATATACACATATATACATGTATATAT ATACGTATATATACACATATATACATGTATATATATATACGTATATATAC ACATATACGTATATATATACGTATATATACATATATACATGTATATATAT ATACGTATATATACATATATACATGTATATATATATACGTATATACACAT ATATATACATGTATATATATGTGTATATATACATGTATATATACATATAT ATACATGTG	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4067		chr19	TogoVar
ZNF85_chr19_20918251_20955697	20919183	A A	ATATATAT others(386): Show ATATATATACAAGTATATATATACTTGTATACATATATACTATATATATA CATATATACACATATATACGTATATATGTATATATACATATATACATGTA TATACGTATATACATGTATATACGTATATATACACATATATACATGTATA TATACGTATATATACACATATATACATGTATATATATACGTATATATACA CATATATACATGTATATATATATACGTATATATACACATATACGTATATA TATACGTATATATACATATATACATGTATATATATATACGTATATATACA TATATACATGTATATATATATACATATATACACATATATATACATGTATA TATATGTGTATATATACATGTATATATACATATATATACATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	212	0.0047	393	c.-42 others(404): Show c.-4218_-4217insTATATATACAAGTATATATATACTTGTATACATA TATACTATATATATACATATATACACATATATACGTATATATGTATATAT ACATATATACATGTATATACGTATATACATGTATATACGTATATATACAC ATATATACATGTATATATACGTATATATACACATATATACATGTATATAT ATACGTATATATACACATATATACATGTATATATATATACGTATATATAC ACATATACGTATATATATACGTATATATACATATATACATGTATATATAT ATACGTATATATACATATATACATGTATATATATATACATATATACACAT ATATATACATGTATATATATGTGTATATATACATGTATATATACATATAT ATACATGTG	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4067		chr19	TogoVar
ZNF85_chr19_20918251_20955697	20919183	A A	ATATATAT others(386): Show ATATATATACAAGTATATATATACTTGTATACATATATACTATATATATA CATATATACACATATATACGTATATATGTATATATACATATATACATGTA TATACGTATATACATGTATATACGTATATATACACATATATACATGTATA TATACGTATATATACACATATATACATGTATATATATACGTATATATACA CATATATACATGTATATATATATACGTATATATACACATATACGTATATA TATACGTATATATACATATATACATGTATATATATATACGTATATATACA TATATACATGTATATATATATACGTATATACACATATATATACATGTATA TATATGTGTATATATACATGTATATATACATATATATACATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG01433.hp1 HG02004.hp2 others(22): Show HG00597.hp2 HG01433.hp1 HG02004.hp2 HG02040.hp1 NA18612.hp1 NA18940.hp2 NA18945.hp2 NA18947.hp1 NA18948.hp1 NA18949.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18956.hp1 NA18960.hp1 NA18961.hp2 NA18966.hp1 NA18967.hp1 NA18979.hp1 NA18981.hp1 NA18990.hp2 NA19002.hp2 NA19055.hp1 NA19057.hp1 NA19076.hp1	a0001 a0012 a0001 a0012	a0001c0001 a0012c0015 a0001c0001 a0012c0015	a0001c0001t0001 a0001c0001t0007 a0012c0015t0001 a0001c0001t0001 a0001c0001t0007 a0012c0015t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0015 others(16): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0029 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0007g0005 a0001c0001t0007g0017 a0001c0001t0007g0228 a0012c0015t0001g0005	25	236	0.1059	393	c.-42 others(404): Show c.-4218_-4217insTATATATACAAGTATATATATACTTGTATACATA TATACTATATATATACATATATACACATATATACGTATATATGTATATAT ACATATATACATGTATATACGTATATACATGTATATACGTATATATACAC ATATATACATGTATATATACGTATATATACACATATATACATGTATATAT ATACGTATATATACACATATATACATGTATATATATATACGTATATATAC ACATATACGTATATATATACGTATATATACATATATACATGTATATATAT ATACGTATATATACATATATACATGTATATATATATACGTATATACACAT ATATATACATGTATATATATGTGTATATATACATGTATATATACATATAT ATACATGTG	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4067		chr19	TogoVar
ZNF85_chr19_20918251_20955697	20919183	A A	ATATATAT others(386): Show ATATATATACAAGTATATATATACTTGTATACATATATACTATATATATA CATATATACACATATATACGTATATATGTATATATACATATATACATGTA TATACGTATATACATGTATATACGTATATATACACATATATACATGTATA TATACGTATATATACACATATATACATGTATATATATACGTATATATACA CATATATACATGTATATATATATACGTATATATACATATATACGTATATA TATACGTATATATACATATATACATGTATATATATATACGTATATATACA TATATACATGTATATATATATACGTATATACACATATATATACATGTATA TATATGTGTATATATACATGTATATATACATATATATACATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp2 HG01517.hp1 HG02698.hp2 others(6): Show HG01516.hp2 HG01517.hp1 HG02698.hp2 HG03491.hp2 HG03669.hp1 HG03704.hp1 HG03831.hp1 HG04115.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0061 others(1): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0061 a0001c0001t0001g0073	9	220	0.0409	393	c.-42 others(404): Show c.-4218_-4217insTATATATACAAGTATATATATACTTGTATACATA TATACTATATATATACATATATACACATATATACGTATATATGTATATAT ACATATATACATGTATATACGTATATACATGTATATACGTATATATACAC ATATATACATGTATATATACGTATATATACACATATATACATGTATATAT ATACGTATATATACACATATATACATGTATATATATATACGTATATATAC ATATATACGTATATATATACGTATATATACATATATACATGTATATATAT ATACGTATATATACATATATACATGTATATATATATACGTATATACACAT ATATATACATGTATATATATGTGTATATATACATGTATATATACATATAT ATACATGTG	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4067		chr19	TogoVar
ZNF85_chr19_20918251_20955697	20919183	A A	ATATATAT others(386): Show ATATATATACAAGTATATATATACTTGTATACATATATACTATATATATA CATATATACACATATATACGTATATATGTATATATACATATATACATGTA TATACGTATATACATGTATATACGTATATATACACATATATACATGTATA TATACGTATATATACACATATATACATGTATATATATACGTATATATACA CATATATACATGTATATATATATACGTATATATACATATATACGTATATA TATATACGTATATATACATATATACGTATATATATATACGTATATATACA TATATACATGTATATATATATACGTATATACACATATATATACATGTATA TATATGTGTATATATACATGTATATATACATATATATACATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	212	0.0047	393	c.-42 others(404): Show c.-4218_-4217insTATATATACAAGTATATATATACTTGTATACATA TATACTATATATATACATATATACACATATATACGTATATATGTATATAT ACATATATACATGTATATACGTATATACATGTATATACGTATATATACAC ATATATACATGTATATATACGTATATATACACATATATACATGTATATAT ATACGTATATATACACATATATACATGTATATATATATACGTATATATAC ATATATACGTATATATATATACGTATATATACATATATACGTATATATAT ATACGTATATATACATATATACATGTATATATATATACGTATATACACAT ATATATACATGTATATATATGTGTATATATACATGTATATATACATATAT ATACATGTG	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4067		chr19	TogoVar
ABCB11_chr2_168915781_169036324	168975303	T T	TTATAGAT others(387): Show TTATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAAT ATTTTTATATTTATAGATAAATATATCAATATTTTTATATTTATAGATAA ATATATCAATATATAAATATTTTTATATTTATAGATAAATATATCAATAT ATAAATATTTTTATATTTATAGATAAATATATCAATATATAAATATTTTT ATATTTATAGATAAATATATCAATATATAAATATTTTTATATTTATAGAT AAATATATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTAT ATTTATAAATATATAAATATTTTTATATTTATAAATATATAAATATTTTT ATATTTATAAATATATAAATATTTTTATATTTATAGATAAATATA	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	280	0.0036	394	c.130 others(413): Show c.1308+1273_1308+1274insTATATTTATCTATAAATATAAAAATA TTTATATATTTATAAATATAAAAATATTTATATATTTATAAATATAAAAA TATTTATATATTTATAAATATAAAAATATTTATATATTTATCTATAAATA TAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATATATTGA TATATTTATCTATAAATATAAAAATATTTATATATTGATATATTTATCTA TAAATATAAAAATATTTATATATTGATATATTTATCTATAAATATAAAAA TATTTATATATTGATATATTTATCTATAAATATAAAAATATTGATATATT TATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAATA TTTATATATTTATCTATA	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCB11_chr2_168915781_169036324	168975506	G G	GATAAATA others(387): Show GATAAATATATAAATATATAAATATTTTTATATTTATAGATAAATATATA AATATATAAATATTTTTATATTTATAGATAAATATATAAATATATAAATA TTTTTATATTTATAGATAAATATATAAATATATAAATATTTTTATATTTA TAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATT TTTATATTTATAGATAAATATATAAATACTTTTATATTTATAGATAAATA TATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATTTT TATATTTATAGATAAATATATAAATATATAAATATTTTTATATTTATAGA TAAATATATAAATATATAAATATTTTTATATTTATAGATAAATAT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0002 a0002	a0002c0052 a0002c0052	a0002c0052t0026 a0002c0052t0026	a0002c0052t0026g0097 a0002c0052t0026g0097	1	253	0.0040	394	c.130 others(413): Show c.1308+1070_1308+1071insATATTTATCTATAAATATAAAAATAT TTATATATTTATATATTTATCTATAAATATAAAAATATTTATATATTTAT ATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAA AAATATTTATATATTTATATATTTATCTATAAATATAAAAGTATTTATAT ATTTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAA ATATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATATAT TTATCTATAAATATAAAAATATTTATATATTTATATATTTATCTATAAAT ATAAAAATATTTATATATTTATATATTTATCTATAAATATAAAAATATTT ATATATTTATATATTTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ADAMTS19_chr5_129455298_129743683	129549914	G G	GTATCTAG others(387): Show GTATCTAGATATACATATACATGTATATGTATATCTAGATATACATATAC ATGTATATGTATATCTAGATATACATATACATGTATCTGTATATGTATGT ATCTAGATATACATATACATGTATCTGTATATGTATGTATCTAGATATAC ATATACATGTATCTGTATATGTATGTATCTAGATATACATATACATGTAT CTGTATATGTATGTATCTAGATATACATATACATGTATCTGTATATGTAT GTATCTAGATATACATATACATGTATCTGTATATGTATGTATCTAGATAT ACATATACATGTATCTGTATATGTATGTATCTAGATATACATATACATGT ATCTGTATATGTATGTATCTAGATATACATATACATGTATCTGTA	intron_variant intron_variant	MODIFIER	HG00735.hp1 NA18979.hp1 NA18990.hp2 others(1): Show HG00735.hp1 NA18979.hp1 NA18990.hp2 NA19082.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0001c0001t0001 a0001c0003t0001 a0002c0002t0001	a0001c0001t0001g0003 a0001c0001t0001g0151 a0001c0003t0001g0216 others(1): Show a0001c0001t0001g0003 a0001c0001t0001g0151 a0001c0003t0001g0216 a0002c0002t0001g0105	4	129	0.0310	394	c.132 others(413): Show c.1329-1947_1329-1946insCTAGATATACATATACATGTATATGT ATATCTAGATATACATATACATGTATATGTATATCTAGATATACATATAC ATGTATCTGTATATGTATGTATCTAGATATACATATACATGTATCTGTAT ATGTATGTATCTAGATATACATATACATGTATCTGTATATGTATGTATCT AGATATACATATACATGTATCTGTATATGTATGTATCTAGATATACATAT ACATGTATCTGTATATGTATGTATCTAGATATACATATACATGTATCTGT ATATGTATGTATCTAGATATACATATACATGTATCTGTATATGTATGTAT CTAGATATACATATACATGTATCTGTATATGTATGTATCTAGATATACAT ATACATGTATCTGTATAT	ADAMTS19	ENSG00000145808.10	transcript	ENST00000274487.9	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	318069	T T	TCCCTTGC others(387): Show TCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCC CCCCCTCCACTCTCCCCTCACCTCCCCCCCACTTTTCCACCTCCCCCTCC ACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCC CCTCACCCCACCACCTCCCGCCCTCACCCTCCACCTCCCCCCGCACCCTG CACCTCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCC ATCTTTTACCTCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCCT CCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTCACC TCCCCCCACCTTCCACCTCCCCCCTCCACCTCCCCCCTCACTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0210 a0001c0001t0003g0210	1	92	0.0109	394	c.-37 others(405): Show c.-3761_-3760insCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCC TCACCCTGCACCTCCCCCCCTCCACTCTCCCCTCACCTCCCCCCCACTTT TCCACCTCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTC CCCCCTCACCTCCCCCCTCACCCCACCACCTCCCGCCCTCACCCTCCACC TCCCCCCGCACCCTGCACCTCCCCCCGCACCCTGCACCTCCCACCCTTAC CCTGCACCTCCCCCCATCTTTTACCTCCCCCTCACCCTGCACCTCCCTCT CGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCT CCACGCCCCCTCACCTCCCCCCACCTTCCACCTCCCCCCTCCACCTCCCC CCTCACTTCC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding		3644		chr5	TogoVar
AK1_chr9_127861486_127882675	127882566	G G	GGAAAGGA others(387): Show GGAAAGGAAAGAAGGGAAAGGAAGGGAAGGGAAGCGGGGGGAGGGGAGGA GAGGGGAGGGAAGGGGGGGGGGGGAAGAAGGGGAGGGGAAGAAGGGGAAG GGAAGAAGGGAAGAAGGGAAGGGAAGAGGGAAGGGAAGAGGGGAAGGGAA CAAGGGAAGGAAAGAAGGGAAGGGAAGAAGGGAAGGGAAGGAAAGGGAAG GGAAGAGGGCGAGGGAAGGGAAGGAAAGAGGGGGAGGGAAGGGGGAAGAG GGGGAGGGAAGAGAGGGAGGGAAGAGGGGAAGGGAAAAAAGGAAGAGAAG AAGGGAAGGGAAGAAGGAAAGAAGGGAAGGGAAGAAAGGAAGGGAAGAAG GGAAGGGAAGGAGGGAAGGGAAGGGAAGAAAGGAAGGGAAGAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0013 a0001c0001t0003g0013	1	15	0.0667	394	c.-49 others(405): Show c.-4977_-4976insTTCTCTTCCCTTCCTTTCTTCCCTTCCCTTCCCT CCTTCCCTTCCCTTCTTCCCTTCCTTTCTTCCCTTCCCTTCTTTCCTTCT TCCCTTCCCTTCTTCTCTTCCTTTTTTCCCTTCCCCTCTTCCCTCCCTCT CTTCCCTCCCCCTCTTCCCCCTTCCCTCCCCCTCTTTCCTTCCCTTCCCT CGCCCTCTTCCCTTCCCTTTCCTTCCCTTCCCTTCTTCCCTTCCCTTCTT TCCTTCCCTTGTTCCCTTCCCCTCTTCCCTTCCCTCTTCCCTTCCCTTCT TCCCTTCTTCCCTTCCCCTTCTTCCCCTCCCCTTCTTCCCCCCCCCCCCT TCCCTCCCCTCTCCTCCCCTCCCCCCGCTTCCCTTCCCTTCCTTTCCCTT CTTTCCTTTC	AK1	ENSG00000106992.19	transcript	ENST00000644144.2	protein_coding		4892		chr9	TogoVar
ANKLE2_chr12_132720503_132766832	132759116	C C	CGCTGCGG others(387): Show CGCTGCGGAGTGGCACCCCGGGGCACCCACGTGGCAGAGTGGATCGCTGC GGAGTGGCATCCTGGGGCACCCACGTGGCAGAGTGGATCGCTGCGGAGTG GCATCCTGGGGCACCCACGTGGCAGAGTGGATCGCTGCGGAGTGGCACCC CAGGGCACCCACATGGCAGAGTGGATTGCGCAGTGTGGCACCCCGGGGCA CCCACGTGGCAGAGAGGATCGCTGCGGAGTGGCACCCCGGGGCACCCACG TGGCAGAGTGGATTGCGCAGTGTGGCACCCCGGGGCACCCACGTGGCAGA GAGGATCGCTGCGGAGTGGCACCCCGGGGCACCCACGTGGCAGAGTGGAT CGCTGCGGAGTGGCACCCCAGGGCACCCACATGGCAGAGTGGATT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03195.hp2 HG02818.hp1 HG03195.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0008 a0003c0003t0001 a0003c0003t0008	a0003c0003t0001g0184 a0003c0003t0008g0013 a0003c0003t0001g0184 a0003c0003t0008g0013	2	335	0.0060	394	c.181 others(411): Show c.181+2501_181+2502insAATCCACTCTGCCATGTGGGTGCCCTGG GGTGCCACTCCGCAGCGATCCACTCTGCCACGTGGGTGCCCCGGGGTGCC ACTCCGCAGCGATCCTCTCTGCCACGTGGGTGCCCCGGGGTGCCACACTG CGCAATCCACTCTGCCACGTGGGTGCCCCGGGGTGCCACTCCGCAGCGAT CCTCTCTGCCACGTGGGTGCCCCGGGGTGCCACACTGCGCAATCCACTCT GCCATGTGGGTGCCCTGGGGTGCCACTCCGCAGCGATCCACTCTGCCACG TGGGTGCCCCAGGATGCCACTCCGCAGCGATCCACTCTGCCACGTGGGTG CCCCAGGATGCCACTCCGCAGCGATCCACTCTGCCACGTGGGTGCCCCGG GGTGCCACTCCGCAGC	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	1/12			chr12	TogoVar
AP3D1_chr19_2095988_2156566	2128950	C C	CGCTCCGA others(387): Show CGCTCCGACAGTGCACCCCGTGGAGCTGGCCCGCCCCACAGCTCCGACAC TGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGT GGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCC GCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGC TCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTG CACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGA GCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCC CCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0079 a0001c0003t0002g0079	1	281	0.0036	394	c.806 others(409): Show c.806+139_806+140insTGTGGGGCGGGCCGGCTCCACGGGGTGCAG TGTCGGAGCGGCGGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCT GTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGC CGGCTCCACGGGGTGCAGTGTCGGAGCGGCGGGGGCGGGCCGGCTCCACG GGGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGT CGGAGCGGCGGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTG GGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCGGCGGGGGCGGGCCG GCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCCAGCTCCACGGGG TGCACTGTCGGAGC	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
APOOL_chrX_84998877_85098315	85088095	T T	TACATATT others(387): Show TACATATTTATACATATATGTATACATACATATTTATACATATATATGTA TAAATACGTACATATTTATACATATATATGTATAAATACGTACATATTTA TACATATATATGTATAAATACGTACATATTTATACATATATATGTATAAA TACGTACATATTTATACATATATATGTATAAATACGTACATATTTATACA TATATATGTATAAATACGTACATATTTATACATATATATGTATAAATACG TACATATTTATACATATATGTATAAATACGTACATATTTATACATATATG TATAAATACATATACATATTTATACATATATGTATAAATACATATACATA TATGTATAAATACATATACATATTTATACATATATGTATAAATAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0019 a0001c0001t0024g0019	1	251	0.0040	394	c.41 others(403): Show c.418_*419insCATATTTATACATATATGTATACATACATATTTATA CATATATATGTATAAATACGTACATATTTATACATATATATGTATAAATA CGTACATATTTATACATATATATGTATAAATACGTACATATTTATACATA TATATGTATAAATACGTACATATTTATACATATATATGTATAAATACGTA CATATTTATACATATATATGTATAAATACGTACATATTTATACATATATA TGTATAAATACGTACATATTTATACATATATGTATAAATACGTACATATT TATACATATATGTATAAATACATATACATATTTATACATATATGTATAAA TACATATACATATATGTATAAATACATATACATATTTATACATATATGTA TAAATACA	APOOL	ENSG00000155008.16	transcript	ENST00000373173.7	protein_coding	9/9	419	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARHGEF10_chr8_1818926_1963641	1849893	T T	TGTGGACA others(387): Show TGTGGACACAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCGTGGACA CAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCGTGGACACAGAGG GCAAATGCTGAGGAGGGCGTGGGCCGGCTGCATGGACACAGAGGGCAAAT GCTGAGGAGGGCATGGGCCGGCTGCGTGGACACAGAGGGCAAATGCTGAG GAGGGCGTGGGCCGGCTGCGTGGACACAGAGGGCAAATGCTGAGGAGGGC GTGGGCCGGCTGCATGGACACAGAGGGCAAATGCTGAGGAGGGCATGGGC CGGCTGCGTGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTG CGTGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGC	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0122 a0001c0122	a0001c0122t0001 a0001c0122t0001	a0001c0122t0001g0192 a0001c0122t0001g0192	1	315	0.0032	394	c.37+ others(409): Show c.37+6467_37+6468insGGCAAATGCTGAGGAGGGCGTGGGCCGGCT GCGTGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCGTGG ACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCATGGACACAG AGGGCAAATGCTGAGGAGGGCATGGGCCGGCTGCGTGGACACAGAGGGCA AATGCTGAGGAGGGCGTGGGCCGGCTGCGTGGACACAGAGGGCAAATGCT GAGGAGGGCGTGGGCCGGCTGCATGGACACAGAGGGCAAATGCTGAGGAG GGCATGGGCCGGCTGCGTGGACACAGAGGGCAAATGCTGAGGAGGGCGTG GGCCGGCTGCGTGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGG CTGCGTGGACACAG	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARL13B_chr3_93975155_94060678	94043558	C C	CTCCCCCC others(387): Show CTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCCTCCCCCTCCCCCT CCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCC CCTCCCCCTCCCACTCCCGCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCACTCCCGC TCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCC TCCCGCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTC CCCCTCTCCCCCTCCCCCTCTCCCTCTTCCCCTCTCCCTCTTCCCCTCTC TCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	72	0.0139	394	c.102 others(411): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCACTCCCGCTCCCCCTCC CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCC CCCTCCCCCTCCCACTCCCGCTCCCCCTCCCCCCTCCCCCTCCCCCTCCC CCTCCCCCCTCCCCCTCCCCCTCCCGCTCCCCCTCCCTCCCCCTCCCCCT CCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCTCTTC CCCTCTCCCTCTTCCCCTCTCTCCCTCCCCCTCCCCCTCTCCCCCTCCCC CTCTCCCCCTCCCCCT	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9			chr3	TogoVar
ASAP1_chr8_130047104_130448674	130049497	G G	GGGGGCAG others(387): Show GGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGA GGGGAATACATGGAGGGCAGAGGGGAACACATGGGGGCAGAGGGGGAACA CATGGGGGGCAGAGGGGAACACATGGGGGGCAGAGGAGAACACATGGGGG CAGAGGGGAACACATGGAGGGCAGAGGGGAACACATGGAGGGCAGAGGGG AACACATGGGGGCAGAGGGGAACACATGGAGGGCAGAGGGGAACACATGG GGGGCAGAGGAGAACACATGGGGGCAGAGGGGAACACATGGGGGGCAGAG GAGAACACATGGGGGCAGAGGGGAACACATGGGGGCAGAGGGGAACACAT GGAGGGCAGAGGGGAACACATGGGGGCAGAGGGGGAACACATGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0028 a0002c0003t0001g0028	1	279	0.0036	394	c.52 others(405): Show c.5233_*5234insTCCATGTGTTCCCCCTCTGCCCCCATGTGTTCCC CTCTGCCCTCCATGTGTTCCCCTCTGCCCCCATGTGTTCCCCTCTGCCCC CATGTGTTCTCCTCTGCCCCCCATGTGTTCCCCTCTGCCCCCATGTGTTC TCCTCTGCCCCCCATGTGTTCCCCTCTGCCCTCCATGTGTTCCCCTCTGC CCCCATGTGTTCCCCTCTGCCCTCCATGTGTTCCCCTCTGCCCTCCATGT GTTCCCCTCTGCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCCCCTC TGCCCCCCATGTGTTCCCCCTCTGCCCCCATGTGTTCCCCTCTGCCCTCC ATGTATTCCCCTCTGCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCT CCTCTGCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2606		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049590	G G	GGAACACA others(387): Show GGAACACATGGGGGCAGAGGGGAACACATGGAGGGCAGAGGAGAACACAT GGGGGCAGAGGGGAACACATGGGGGCAGAGGGGAATACATGGGGGGCAGA GGAGAACACATGGGGGGCAGAGGGGAACACATGGGGGCAGAGGGGGAACA CATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAACACATGGGGGC AGAGGGGGAACACATGGGGGCAGAGGGGGAACACATGGGGGGCAGAGGAG AACACATGGGGGCAGAGGGGGAACACATGGGGGGCAGAGGAGAACACATG GGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACACATGGGGGGCAG AGGAGAACACATGGGGGCAGAGGGGAATACATGGGGGGCAGAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0276 a0002c0002t0001g0276	1	204	0.0049	394	c.51 others(405): Show c.5140_*5141insTCCTCTGCCCCCCATGTATTCCCCTCTGCCCCCA TGTGTTCTCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCT CCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCCCCCTCTGC CCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCCCCCTCTGCCCCCATGT GTTCCCCCTCTGCCCCCATGTGTTCCCCTCTGCCCCCATGTGTTCTCCTC TGCCCCCCATGTGTTCCCCCTCTGCCCCCATGTGTTCCCCTCTGCCCCCC ATGTGTTCTCCTCTGCCCCCCATGTATTCCCCTCTGCCCCCATGTGTTCC CCTCTGCCCCCATGTGTTCTCCTCTGCCCTCCATGTGTTCCCCTCTGCCC CCATGTGTTC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2513		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049888	T T	TGGGGGGC others(387): Show TGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACACATGGGGGCA GAGGGGAATACATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAA CACATGGGGGCAGAGGAGAACACATGGGGGCAGAGGAGAACACATGGGGG GCAGAGGAGAACACATGGGGGCAGAGGGGAATACATGGGGGGCAGAGGAG AACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGAGAACACATGG GGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACACATGGGGGGCAGA GGAGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGGAACA CATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGAGAACACATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0067 a0002c0002t0001g0067	1	252	0.0040	394	c.48 others(405): Show c.4842_*4843insCATGTGTTCTCCTCTGCCCCCATGTGTTCTCCTC TGCCCCCCATGTGTTCCCCCTCTGCCCCCATGTGTTCTCCTCTGCCCCCC ATGTGTTCTCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTC TCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCATGTGTTCTCCTCTGCC CCCCATGTGTTCTCCTCTGCCCCCCATGTATTCCCCTCTGCCCCCATGTG TTCTCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCATGTGTTCTCCTCT GCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCCAT GTATTCCCCTCTGCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCTCC TCTGCCCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2215		chr8	TogoVar
C2CD4C_chr19_400445_414147	404613	C C	CGGGGGTC others(387): Show CGGGGGTCCTGCCCTGAGGGGTCTGAGGGGGTACGGGGTCCTGCCCTGAG GGGTGTGGAGGGGGGAACGGGGTCCTGCCCTGAGGGGTGTGGAGGGGGGA TGGGGTCCTGCCCTGAGGGGTGTGGGGGGGGATGGGGTCCTGCCCTGAGG GGTCTGAGGGGGTACGGGGTCCTGCCTTGAGGGGTGTGGGGGGGAACGGG GTCCTGCCCTGAGGGGTGTGGAGGGGGGATGGGGTCCTGCCCTGAGGGGT GTGGAGGGGGGATGGGGTCCTGCCCTGAGGGGTGTGGAGGGGGGATGGGG TCCTGCCCTGAGGGGTGTGGAGGGGGGATGGGGTCCTGCCCTGAGGGGTG TGGAGGGGGGATGGGGTCCTGCCCTGAGGGGTCTGAGGGGGTACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0025 a0001c0002t0012g0025	1	162	0.0062	394	c.24 others(405): Show c.2482_*2483insCGTACCCCCTCAGACCCCTCAGGGCAGGACCCCA TCCCCCCTCCACACCCCTCAGGGCAGGACCCCATCCCCCCTCCACACCCC TCAGGGCAGGACCCCATCCCCCCTCCACACCCCTCAGGGCAGGACCCCAT CCCCCCTCCACACCCCTCAGGGCAGGACCCCATCCCCCCTCCACACCCCT CAGGGCAGGACCCCGTTCCCCCCCACACCCCTCAAGGCAGGACCCCGTAC CCCCTCAGACCCCTCAGGGCAGGACCCCATCCCCCCCCACACCCCTCAGG GCAGGACCCCATCCCCCCTCCACACCCCTCAGGGCAGGACCCCGTTCCCC CCTCCACACCCCTCAGGGCAGGACCCCGTACCCCCTCAGACCCCTCAGGG CAGGACCCCC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		831		chr19	TogoVar
CACNA1H_chr16_1148106_1226768	1185658	A A	ATAGGGCC others(387): Show ATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGTG TAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGG GGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGG GGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCATGCA TAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGTGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGG GCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGG GCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02155.hp2 HG02165.hp1 HG02071.hp1 HG02155.hp2 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0121 a0001c0001t0002g0128 a0001c0001t0005g0253 a0001c0001t0002g0121 a0001c0001t0002g0128 a0001c0001t0005g0253	3	105	0.0286	394	c.300 others(411): Show c.300-9309_300-9308insCCGGGGGCGGGGTACGTGGGGGGCGGGC GAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGT GAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGT AGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGT AGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCG AGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTG AGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTA GACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTA GACGGCATGTGTAGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CCDC63_chr12_110841987_110912535	110905933	A A	ATATATAA others(387): Show ATATATAATATATATTTTATAAAATATATATTATATTATATATAATATAT ATTATATAAAATATATATTATATATAATATATATTATATAAAATATATAT TATATATAATATATATTATATAAAATATATATTATATTATATAATATATA TTATATAAAATATATATTATATATAATATATATTATATAAAATATATATT ATATATAATATATATTATATAAAATATATATTATATTATATAATATATAT TATATAAAATATATATTATATTATATATAATATATATTATATAAAATATA TATTATATTATATATAATATATATTATATAAAATATATATTATATATAAT ATATATTATATAAAATATATATTATATTATATATAATATATATTA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	250	0.0040	394	c.154 others(413): Show c.1546+1146_1546+1147insTAATATATATTTTATAAAATATATAT TATATTATATATAATATATATTATATAAAATATATATTATATATAATATA TATTATATAAAATATATATTATATATAATATATATTATATAAAATATATA TTATATTATATAATATATATTATATAAAATATATATTATATATAATATAT ATTATATAAAATATATATTATATATAATATATATTATATAAAATATATAT TATATTATATAATATATATTATATAAAATATATATTATATTATATATAAT ATATATTATATAAAATATATATTATATTATATATAATATATATTATATAA AATATATATTATATATAATATATATTATATAAAATATATATTATATTATA TATAATATATATTATATA	CCDC63	ENSG00000173093.13	transcript	ENST00000308208.10	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
CD247_chr1_167425640_167523529	167435206	T T	TTCCTCCA others(387): Show TTCCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCT TCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCCC TCCTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTT CCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTCC TCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCGTTCCTCCGGAGCCCTCC TCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTTCCT CCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTTCCTC CGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCCC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02451.hp2 HG02486.hp1 others(4): Show HG01433.hp1 HG02451.hp2 HG02486.hp1 HG02622.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0064 a0001c0001t0001g0102 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0064 a0001c0001t0001g0102 a0001c0001t0001g0114 a0001c0001t0001g0348 a0001c0001t0001g0357	7	316	0.0222	394	c.336 others(409): Show c.336+192_336+193insGGGCTCCGGAGGAAGGGCTGGAGGAAGGGC TGGAGGAGGGCTCCGGAGGAAGGGCTGGAGGAAGGGCTGGAGGAGGGCTC CGGAGGAAGGGCTGGAGGAAGGGCTGGAGGAGGGCTCCGGAGGAAGGGCT GGAGGAAGGGCTGGAGGAGGGCTCCGGAGGAACGGCTGGAGGAAGGGCTG GAGGAGGGCTCCGGAGGAGGGCTGGAGGAAGGGCTGGAGGAGGGCTCCGG AGGAAGGGCTGGAGGAAGGGCTGGAGGAGGGCTCCGGAGGAAGGGCTGGA GGAAGGGCTGGAGGAGGGCTCCGGAGGAAGGGCTGGAGGAAGGGCTGGAG GAGGGCTCCGGAGGAAGGGCTGGAGGAAGGGCTGGAGGAGGGCTCCGGAG GAAGGGCTGGAGGA	CD247	ENSG00000198821.12	transcript	ENST00000362089.10	protein_coding	5/7			chr1	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTTC others(387): Show CCCCCTTCCCTCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCC CCCTTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCC TCCCCCTCCTCCTCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTC CTCTCCCCTCCCCTCCCCCCTCTCCCCTCCCCTCCCCTCTCCTCTCCCCT CCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCC CTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCC TCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCTCT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0225 a0001c0001t0006g0225	1	12	0.0833	394	c.-45 others(415): Show c.-455+14580_-455+14581insTCCCTCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCTCCCCTCCCCCCTTCCCCTCCCCCCTCCCCTCCCCTCTC CCCTCCCCTCTCCCCTCCCCTCCCCCTCCTCCTCCCTCCCCTCCCCCTCC TCTCCCCCTCCCTTCCCCTCCTCTCCCCTCCCCTCCCCCCTCTCCCCTCC CCTCCCCTCTCCTCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCT CCCCTCCCCTCTCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCT CCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCC CCTCCCCTCTCCTCTCCCCT	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDH8_chr16_61642250_62041438	61960238	C C	CATATGTG others(387): Show CATATGTGTGTATACACATACATATATACATATGTGTGTGTGTATACACA TACATATATACATGTGTGTGTGTATGCACATACATATATACATATGTGTG TGTGTATACACATACATATATACATATGTGTGTATACACACATATATACA TATGTGTGTATACACATACATATATACATATGTGTGTGTATACACACATA TATACATATGTGTGTGTATACACACACACATATGTATATATGTATGTGTA TACACACACATATATGTATATATGTATGTGCATACACACACACACATGTA TATATGTATGTGTATACACATACATATATACATATGTGTGTGTATACACA TACATATATACATGTGTGTGTGTGTATGCACATACACATATACAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG06807.hp1 HG02818.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0064 a0001c0001t0008 a0001c0001t0064	a0001c0001t0008g0115 a0001c0001t0064g0071 a0001c0001t0008g0115 a0001c0001t0064g0071	2	139	0.0144	394	c.253 others(413): Show c.253-58766_253-58765insATGTATATGTGTATGTGCATACACAC ACACACATGTATATATGTATGTGTATACACACACATATGTATATATGTAT GTGTATACACATACATATATACATGTGTGTGTGTGTATGCACATACATAT ATACATATATGTGTGTGTATACACATACATATATACATATGTGTGTGTGT ATACACACACATATGTATATATGTGTGTATACACACACATATGTATATAT GTATGTGTATACACACATATGTATATATGTGTGTATACACACATATGTAT ATATGTATGTGTATACACACACACATATGTATATATGTATGTGCATACAC ACACACATGTATATATGTATGTGTATACACACACACATATGTATATATGT ATGTGTATACACACATAT	CDH8	ENSG00000150394.14	transcript	ENST00000577390.6	protein_coding	2/11			chr16	TogoVar
CELSR1_chr22_46356174_46542620	46366247	G G	GGGGCAGG others(387): Show GGGGCAGGGAGGGAAGTTGCGGGTGGGAAGAAAGGTGGGGGGGAGGAGAG GTGCACGGGGGGAGGAAAGGTGCGGGGGGAGGAAAGGTGCGGGGGGAGGA AAGGTGCGCGGGGGGGGAGGAGAGGTGCACGGGGGGAGGAAAGGTGCGGG GGGAGGAAAGGTGCACGGGGGGAGGAAAGGTGCGGGGGGAGGAAAGGTGC GGGGGGAGGAAAGGTGCGGGGGGAGGAAAGGTGCGGGGGGAGGAAAGGTG CGGGGGGAGGAAAGGTGCGGGGGGAGGAAAGGTGCGCGGGGGGAGGAAAG GTGCGGGGGGAGGAAAGGTGCACGGGGGGGGAGGAGAGGTGCACGGGGGG AGGAGAGGTGCGGGGGGAGGAAAGGTGCGGGGGGAGGAAAGGTGC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0041 a0041	a0041c0069 a0041c0069	a0041c0069t0007 a0041c0069t0007	a0041c0069t0007g0003 a0041c0069t0007g0003	1	83	0.0120	394	c.830 others(411): Show c.8300+138_8300+139insGCACCTTTCCTCCCCCCGCACCTTTCCT CCCCCCGCACCTCTCCTCCCCCCGTGCACCTCTCCTCCCCCCCCGTGCAC CTTTCCTCCCCCCGCACCTTTCCTCCCCCCGCGCACCTTTCCTCCCCCCG CACCTTTCCTCCCCCCGCACCTTTCCTCCCCCCGCACCTTTCCTCCCCCC GCACCTTTCCTCCCCCCGCACCTTTCCTCCCCCCGCACCTTTCCTCCCCC CGTGCACCTTTCCTCCCCCCGCACCTTTCCTCCCCCCGTGCACCTCTCCT CCCCCCCCGCGCACCTTTCCTCCCCCCGCACCTTTCCTCCCCCCGCACCT TTCCTCCCCCCGTGCACCTCTCCTCCCCCCCACCTTTCTTCCCACCCGCA ACTTCCCTCCCTGCCC	CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	30/34			chr22	TogoVar
CIP2A_chr3_108544864_108594438	108575583	T T	TGTGTGTA others(387): Show TGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATACACG TATATATACTCATATACATGTGTGTATATACACGTATATATACTCATATA CATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATACA CGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCATA TACGTGTGTATATACACGTATATATACTCATATACGTGTGTATATACACG TATATATACTCATATACGTGTGTATATACACGTATATATACTCATATACG TGTGTATATACACGTATATATACTCATATACGTGTGTATATACACGTATA TATACTCATATACGTGTGTATATACACGTATATATACTCATATAC	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0279 a0001c0001t0002g0279	1	364	0.0027	394	c.894 others(409): Show c.894+687_894+688insGTATATGAGTATATATACGTGTATATACAC ACGTATATGAGTATATATACGTGTATATACACACGTATATGAGTATATAT ACGTGTATATACACACGTATATGAGTATATATACGTGTATATACACACGT ATATGAGTATATATACGTGTATATACACACGTATATGAGTATATATACGT GTATATACACACGTATATGAGTATATATACGTGTATATACACACATGTAT ATGAGTATATATACGTGTATATACACACATGTATATGAGTATATATACGT GTATATACACACATGTATATGAGTATATATACGTGTATATACACACATGT ATATGAGTATATATACGTGTATATACACACATGTATATGAGTATATATAC GTGTATATACACAC	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108575788	G G	GTGTGTAT others(387): Show GTGTGTATATACGTGTATATATACTCATATACATGTGTGTATATACGTGT ATATATACTCATATACATGTGTGTATATACGTGTATATATACTCATATAC ATGTGTGTATATACGTGTATATATACTCATATACATGTGTGTATATACGT GTATATATACTCATATACATGTGTATATACGTGTATATATACTCATATAC ATGTGTATATACGTGTATATATACTCATATACATGTGTGTATATACGTGT ATATATACTCATATACATGTGTATATACGTGTATATATACTCATATACAT GTGTATATACGTGTATATATACTCATATACATGTGTATATACGTGTATAT ATACTCATATACATGTGTATATACGTGTATATATACTCATATACA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0008 a0009c0011t0008	a0009c0011t0008g0032 a0009c0011t0008g0032	1	364	0.0027	394	c.894 others(409): Show c.894+482_894+483insTGTATATGAGTATATATACACGTATATACA CATGTATATGAGTATATATACACGTATATACACATGTATATGAGTATATA TACACGTATATACACATGTATATGAGTATATATACACGTATATACACATG TATATGAGTATATATACACGTATATACACACATGTATATGAGTATATATA CACGTATATACACATGTATATGAGTATATATACACGTATATACACATGTA TATGAGTATATATACACGTATATACACACATGTATATGAGTATATATACA CGTATATACACACATGTATATGAGTATATATACACGTATATACACACATG TATATGAGTATATATACACGTATATACACACATGTATATGAGTATATATA CACGTATATACACA	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar

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