Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

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Minlen

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
UNG_chr12_109092597_109115992	109106892	C C	CATATATA others(237): Show CATATATATATACGTATATATATATACACATATATATATACGTATATATA TATATATGTGTATATATATATATACGTATATATATATGTGTATATATATA TACGTATATATATGTGTATATATATATGTTTTTTTTTTGAGATAGATATA TGTATATATATATATACGTATATATATATGTGTATATATATATACGTATA TATATGTATATATATGTGTATATATATATGTATATATATGTGTAT	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA18612.hp1 HG02074.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0157 a0001c0001t0001g0098 a0001c0001t0001g0157	2	452	0.0044	244	c.802 others(261): Show c.802-2913_802-2912insACACATATATATATACGTATATATATAT ATATGTGTATATATATATATACGTATATATATATGTGTATATATATATAC GTATATATATGTGTATATATATATGTTTTTTTTTTGAGATAGATATATGT ATATATATATATACGTATATATATATGTGTATATATATATACGTATATAT ATGTATATATATGTGTATATATATATGTATATATATGTGTATATATATAT ATACGTATATATATAT	UNG	ENSG00000076248.12	transcript	ENST00000242576.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
UNG_chr12_109092597_109115992	109106892	C C	CATATATA others(237): Show CATATATATATACGTATATATATATACACATATATATATACGTATATATA TATATGTGTATATATATATATACGTATATATATATGTGTATATATATATA CGTATATATATGTGTATATATATATGTTTTTTTTTTGAGATAGATATATG TATATATATATATATACGTATATATATATGTGTATATATATATACGTATA TATATGTATATATATGTGTATATATATATGTATATATATGTGTAT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	452	0.0022	244	c.802 others(261): Show c.802-2913_802-2912insACACATATATATATACGTATATATATAT ATGTGTATATATATATATACGTATATATATATGTGTATATATATATACGT ATATATATGTGTATATATATATGTTTTTTTTTTGAGATAGATATATGTAT ATATATATATATACGTATATATATATGTGTATATATATATACGTATATAT ATGTATATATATGTGTATATATATATGTATATATATGTGTATATATATAT ATACGTATATATATAT	UNG	ENSG00000076248.12	transcript	ENST00000242576.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
UNG_chr12_109092597_109115992	109106892	C C	CATATATA others(237): Show CATATATATATACGTATATATATATATACACATATATATATACGTATATA TATATATGTGTATATATATATATACGTATATATATATGTGTATATATATA TACGTATATATATGTGTATATATATATGTTTTTTTTTTGAGATAGATATA TGTATATATATATATACGTATATATATATGTGTATATATATATACGTATA TATATGTATATATATGTGTATATATATATGTATATATATGTGTAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02735.hp2 HG03490.hp2 others(3): Show HG01074.hp2 HG02735.hp2 HG03490.hp2 HG03492.hp2 HG03704.hp1 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0035 a0001c0001t0001g0146 a0001c0001t0001g0152 others(2): Show a0001c0001t0001g0035 a0001c0001t0001g0146 a0001c0001t0001g0152 a0001c0001t0001g0168 a0001c0001t0008g0134	6	452	0.0133	244	c.802 others(261): Show c.802-2913_802-2912insATACACATATATATATACGTATATATAT ATATGTGTATATATATATATACGTATATATATATGTGTATATATATATAC GTATATATATGTGTATATATATATGTTTTTTTTTTGAGATAGATATATGT ATATATATATATACGTATATATATATGTGTATATATATATACGTATATAT ATGTATATATATGTGTATATATATATGTATATATATGTGTATATATATAT ATACGTATATATATAT	UNG	ENSG00000076248.12	transcript	ENST00000242576.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
VCX3B_chrX_8459830_8471510	8467063	G G	GGGGAGGG others(237): Show GGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGG TGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGG AGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGG GGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGAGGTG TGTGGGGAGGGAGGGAGGGAGGGGGGAAGAGGAGGTGTGTGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0003 a0005c0005t0003	a0005c0005t0003g0054 a0005c0005t0003g0054	1	271	0.0037	244	c.68 others(253): Show c.680_*681insGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGG GAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGG TGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGG AGGGAGGGAGGGGGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGGA GGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGGGGGAAGAGGAGGTG TGTGGGGA	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		554		chrX	TogoVar
VGLL4_chr3_11551069_11648915	11605312	C C	CCACAGCT others(237): Show CCACAGCTCTGTGAATTCCATCTTCCAAAGCGCCCCCACGCCCACCCCCC ACCCCCAATCCTCCACAGCTCTGTGAATTCCATCTTCCAAAGCGCCCCCA CGCCCCCGCCCACCCCCAATCCTCCACAGCTCTGTGAATTCCATCTTCCA AAGCGCCCCCACGCCCCCGCCCACCCCCAATCCTCCACAGCTCTGTGAAT TCCATCTTCCAAAGCCCCCCACGCCCCCGCCCACCCCCAATCCTA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0248 a0001c0002t0002g0248	1	388	0.0026	244	c.83- others(259): Show c.83-3291_83-3290insTAGGATTGGGGGTGGGCGGGGGCGTGGGGG GCTTTGGAAGATGGAATTCACAGAGCTGTGGAGGATTGGGGGTGGGCGGG GGCGTGGGGGCGCTTTGGAAGATGGAATTCACAGAGCTGTGGAGGATTGG GGGTGGGCGGGGGCGTGGGGGCGCTTTGGAAGATGGAATTCACAGAGCTG TGGAGGATTGGGGGTGGGGGGTGGGCGTGGGGGCGCTTTGGAAGATGGAA TTCACAGAGCTGTG	VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	1/4			chr3	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CGATAGAT others(237): Show CGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0049 a0001c0002t0001g0049	1	408	0.0025	244	c.53+ others(259): Show c.53+2076_53+2077insGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGAT AGATGTATCTATCGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGAT	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CGATAGAT others(237): Show CGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA18983.hp2 HG02074.hp2 NA18983.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0100 a0001c0002t0001g0101	2	408	0.0049	244	c.53+ others(259): Show c.53+2076_53+2077insGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGAT	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CGATAGAT others(237): Show CGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	408	0.0025	244	c.53+ others(259): Show c.53+2072_53+2073insGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGAT	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
VPS16_chr20_2835745_2871732	2842868	A A	AGATAGAT others(237): Show AGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0339 a0001c0001t0001g0339	1	408	0.0025	244	c.53+ others(259): Show c.53+2072_53+2073insGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGAT AGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGAT	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
VPS16_chr20_2835745_2871732	2842892	A A	AGATAGAT others(237): Show AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0270 a0001c0001t0001g0270	1	408	0.0025	244	c.53+ others(259): Show c.53+2076_53+2077insGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGAT	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
WDR87_chr19_37879823_37911594	37881047	A A	ATATATAA others(237): Show ATATATAATATATATATATAATATATATATATATAATATATATATATATT ATATATATATATAATATATATATATATTATATATATATAATATATATATT ATATATATATTATATATATATAATATATATTATATATATATAATATATAT ATAATATATATATTATATATATATAATATATATATTATATATATATAATA TATATATATATTATATATATTATATATATATAATATATATATAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0059	1	330	0.0030	244	c.38 others(255): Show c.3884_*3885insATTATATATATATTATATATATATAATATATATA ATATATATATATATTATATATATATAATATATATATTATATATATATAAT ATATATATTATATATATATTATATATATATAATATATATTATATATATAT AATATATATATAATATATATATTATATATATATAATATATATATATATTA TATATATATATAATATATATATATATTATATATATATATATTATATATAT ATATTATATA	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3775		chr19	TogoVar
WDR87_chr19_37879823_37911594	37881047	A A	ATATATAA others(237): Show ATATATAATATATATATATAATATATATATATATAATATATATATATATT ATATATATATATAATATATATATATATTATATATATATAATATATATATT ATATATATATTATATATATATAATATATATTATATATATATAATATATAT ATAATATATATATTATATATATATAATATATATATTATATATATATAATA TATATATATTATATATATATTATATATATATAATATATATATAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0058	1	330	0.0030	244	c.38 others(255): Show c.3884_*3885insATTATATATATATTATATATATATAATATATATA TAATATATATATATTATATATATATAATATATATATTATATATATATAAT ATATATATTATATATATATTATATATATATAATATATATTATATATATAT AATATATATATAATATATATATTATATATATATAATATATATATATATTA TATATATATATAATATATATATATATTATATATATATATATTATATATAT ATATTATATA	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3775		chr19	TogoVar
WDR87_chr19_37879823_37911594	37881047	A A	ATATATTA others(237): Show ATATATTATATATATATATAATATATATATATATAATATATATATATAAT ATATATATATATAATATATATATATATTATATATATATAATATATATATT ATATATATATTATATATATATAATATATATTATATATATATAATATATAT ATAATATATATATTATATATATATAATATATATATTATATATATATAATA TATATATAATATATATATATTATATATATATAATATATATATAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0026 a0026	a0026c0049 a0026c0049	a0026c0049t0002 a0026c0049t0002	a0026c0049t0002g0081 a0026c0049t0002g0081	1	330	0.0030	244	c.38 others(255): Show c.3884_*3885insATTATATATATATTATATATATATAATATATATA TATTATATATATATTATATATATATAATATATATATTATATATATATAAT ATATATATTATATATATATTATATATATATAATATATATTATATATATAT AATATATATATAATATATATATTATATATATATAATATATATATATATTA TATATATATATATTATATATATATATTATATATATATATATTATATATAT ATATAATATA	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3775		chr19	TogoVar
WDR87_chr19_37879823_37911594	37881068	A A	ATATATAT others(237): Show ATATATATATTATATATATATTATATATATTATATATAATATATATAATA TATATATATTATATATATAATATATATATTTAATATATATATTATATATA TAATATATATATTTAATATATATATTATATATATAATATATATATTATAT ATATAATATATATAATATATATATAATATATATATATTATATATATAATA TATATTATATATATATTATATATATAATATATATTATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0040 a0040	a0040c0050 a0040c0050	a0040c0050t0001 a0040c0050t0001	a0040c0050t0001g0150 a0040c0050t0001g0150	1	330	0.0030	244	c.38 others(255): Show c.3863_*3864insATATATATATAATATATATTATATATATAATATA TATATAATATATATTATATATATAATATATATATATTATATATATATTAT ATATATTATATATATAATATATATATTATATATATAATATATATATTAAA TATATATATTATATATATAATATATATATTAAATATATATATTATATATA TAATATATATATATTATATATATTATATATAATATATATAATATATATAT AATATATATA	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3754		chr19	TogoVar
WDR87_chr19_37879823_37911594	37881119	T T	TATTATAT others(237): Show TATTATATATATAATATATATATTATATATATATAATATATATATATTAT ATATATATAATATATATATATTTTATATATATATAATATATATATTATAT ATATATAATATATATATTATATATATATATAATATATATATATTATATAT ATATATTATATATATTATATAATATAATATTATTATATATTATATAATAT ATAATATATAATAATATATAATATATATATTATATATATATATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0006 a0006	a0006c0016 a0006c0016	a0006c0016t0003 a0006c0016t0003	a0006c0016t0003g0102 a0006c0016t0003g0102	1	330	0.0030	244	c.38 others(255): Show c.3812_*3813insTAATATATATATATAATATATATATTATATATTA TTATATATTATATATTATATAATATATAATAATATTATATTATATAATAT ATATAATATATATATATAATATATATATATTATATATATATATAATATAT ATATTATATATATATAATATATATATTATATATATATAAAATATATATAT ATTATATATATATAATATATATATATTATATATATATAATATATATATTA TATATATAAT	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3703		chr19	TogoVar
XRCC2_chr7_152639776_152681141	152674705	T T	TATATATA others(237): Show TATATATAAAAATATATTTATATAATATATTTTTAAATATATATTATATA TAATATATTTTTAAATATATATTATATATAATATATATTTAAAAATATAT TATATAAATATATTTTAAAATATGTATTATATATAAATATATTTTAAAAT ATATATTATATATAAATATATTTTAAAATATATATTATATATAAATATAT TTTTAAATATATATTATATATAAATATATTTTTAAATATATATTA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02717.hp1 HG02572.hp2 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0250 a0001c0001t0025g0251 a0001c0001t0025g0250 a0001c0001t0025g0251	2	394	0.0051	244	c.39+ others(259): Show c.39+1335_39+1336insTAATATATATTTAAAAATATATTTATATAT AATATATATTTAAAAATATATTTATATATAATATATATTTTAAAATATAT TTATATATAATATATATTTTAAAATATATTTATATATAATACATATTTTA AAATATATTTATATAATATATTTTTAAATATATATTATATATAATATATA TTTAAAAATATATTATATATAATATATATTTAAAAATATATTATATAAAT ATATTTTTATATAT	XRCC2	ENSG00000196584.4	transcript	ENST00000359321.2	protein_coding	1/2			chr7	TogoVar
XYLT1_chr16_17096769_17475960	17470921	C C	CCGCCGCC others(237): Show CCGCCGCCTCGGCTCGCCGCTGCTCCTCCTCCGCCGCCGCCGCCGCCGCC GCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCTCCACCGCCGCGGCGCG GAGTTTTCAGACGGGCAGGGACCCGGACGTCACCAGGAGGAGGAGAAGGC GGGAGGCGGGAGCGGGGAGGCCGCGGAGGGGGGCGCCGGGCGCGCGCTCG GGGACGGGGCGCGCAGGGAGGGGCGGGCGCCTGGCCCGCGCGGCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02615.hp2 HG02723.hp2 HG04228.hp2 HG02615.hp2 HG02723.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0014 a0001c0001 a0001c0004 a0001c0014	a0001c0001t0090 a0001c0004t0089 a0001c0014t0091 a0001c0001t0090 a0001c0004t0089 a0001c0014t0091	a0001c0001t0090g0142 a0001c0004t0089g0141 a0001c0014t0091g0143 a0001c0001t0090g0142 a0001c0004t0089g0141 a0001c0014t0091g0143	3	156	0.0192	244	c.-12 others(253): Show c.-126_-125insCGCCGCGCGGGCCAGGCGCCCGCCCCTCCCTGCGCG CCCCGTCCCCGAGCGCGCGCCCGGCGCCCCCCTCCGCGGCCTCCCCGCTC CCGCCTCCCGCCTTCTCCTCCTCCTGGTGACGTCCGGGTCCCTGCCCGTC TGAAAACTCCGCGCCGCGGCGGTGGAGGCGGCGGCGGCGGCGGCGGCGGC GGCGGCGGCGGCGGCGGCGGCGGCGGCGGAGGAGGAGCAGCGGCGAGCCG AGGCGGCG	XYLT1	ENSG00000103489.12	transcript	ENST00000261381.7	protein_coding	1/12	126		chr16	TogoVar
XYLT1_chr16_17096769_17475960	17470921	C C	CCGCCGCC others(237): Show CCGCCGCCTCGGCTCGCCGCTGCTCCTCCTCCGCCGCCGCCGCCGCCGCT GCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCTCCACCGCCGCGGCGCG GAGTTTTCAGACGGGCAGGGACCCGGACGTCACCAGGAGGAGGAGAAGGC GGGAGGCGGGAGCGGGGAGGCCGCGGAGGGGGGCGCCGGGCGCGCGCTCG GGGACGGGGCGCGCAGGGAGGGGCGGGCGCCTGGCCCGCGCGGCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00140.hp2 HG01884.hp2 HG02630.hp2 others(1): Show HG00140.hp2 HG01884.hp2 HG02630.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0025 a0001c0001 a0001c0025	a0001c0001t0069 a0001c0001t0071 a0001c0001t0072 others(1): Show a0001c0001t0069 a0001c0001t0071 a0001c0001t0072 a0001c0025t0070	a0001c0001t0069g0113 a0001c0001t0071g0115 a0001c0001t0072g0114 others(1): Show a0001c0001t0069g0113 a0001c0001t0071g0115 a0001c0001t0072g0114 a0001c0025t0070g0112	4	156	0.0256	244	c.-12 others(253): Show c.-126_-125insCGCCGCGCGGGCCAGGCGCCCGCCCCTCCCTGCGCG CCCCGTCCCCGAGCGCGCGCCCGGCGCCCCCCTCCGCGGCCTCCCCGCTC CCGCCTCCCGCCTTCTCCTCCTCCTGGTGACGTCCGGGTCCCTGCCCGTC TGAAAACTCCGCGCCGCGGCGGTGGAGGCGGCGGCGGCGGCGGCGGCGGC GGCGGCGGCAGCGGCGGCGGCGGCGGCGGAGGAGGAGCAGCGGCGAGCCG AGGCGGCG	XYLT1	ENSG00000103489.12	transcript	ENST00000261381.7	protein_coding	1/12	126		chr16	TogoVar
XYLT1_chr16_17096769_17475960	17470921	C C	CCGCCGCC others(237): Show CCGCCGCCTCGGCTCGCCGCTGCTCCTCCTCCGCCGCCGCCGCCGCCGCT GCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCTCCACCGCCGCGGCGCG GAGTTTTCAGACGGGCAGGGACCCGGACGTCACCAGGAGGAGGAGAAGGC GGGAGGCGGGAGCGGGGAGGCCGCGGATGGGGGCGCCGGGCGCGCGCTCG GGGACGGGGCGCGCAGGGAGGGGCGGGCGCCTGGCCCGCGCGGCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02717.hp2 NA19043.hp1 HG02717.hp2 NA19043.hp1	a0001 a0001	a0001c0004 a0001c0006 a0001c0004 a0001c0006	a0001c0004t0024 a0001c0006t0023 a0001c0004t0024 a0001c0006t0023	a0001c0004t0024g0005 a0001c0006t0023g0004 a0001c0004t0024g0005 a0001c0006t0023g0004	2	156	0.0128	244	c.-12 others(253): Show c.-126_-125insCGCCGCGCGGGCCAGGCGCCCGCCCCTCCCTGCGCG CCCCGTCCCCGAGCGCGCGCCCGGCGCCCCCATCCGCGGCCTCCCCGCTC CCGCCTCCCGCCTTCTCCTCCTCCTGGTGACGTCCGGGTCCCTGCCCGTC TGAAAACTCCGCGCCGCGGCGGTGGAGGCGGCGGCGGCGGCGGCGGCGGC GGCGGCGGCAGCGGCGGCGGCGGCGGCGGAGGAGGAGCAGCGGCGAGCCG AGGCGGCG	XYLT1	ENSG00000103489.12	transcript	ENST00000261381.7	protein_coding	1/12	126		chr16	TogoVar
ZFP42_chr4_187990771_188010046	187992000	G G	GGGGAGAG others(237): Show GGGGAGAGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGAGTGGGGAG AGGGAGAGGGAGACCGTGGGGAGAGGGAGAGTGGGGAGAGGGAGAGGGAG AGGGAGAGGGAGACCGTGGGGAGAGGGAGACCGTGGGGAGAGGGAGAGGG AGAGGGAGACCGTGGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGAG GGAGACCGTGGGGAGAGGGAGAGGGAGAGGGAGACCGTGGGGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0133 a0001c0001t0018g0133	1	448	0.0022	244	c.-41 others(255): Show c.-4179_-4178insGGGAGAGGGAGAGGGAGAGGGAGACCGTGGGGAG AGGGAGAGTGGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGAGTGGG GAGAGGGAGAGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGACCGTG GGGAGAGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGAGGGAGACCG TGGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGAGGGAGAGGGAGAC CGTGGGGAGA	ZFP42	ENSG00000179059.10	transcript	ENST00000326866.5	protein_coding		3770		chr4	TogoVar
ZNF365_chr10_62369369_62407450	62369791	T T	TATATATG others(237): Show TATATATGTCCCATATCTATCTCATATATATGTCCCATATATATCTATCT CATATATATGTCCCATATATATCTATCTCATATATATGTCCCATATATCT ATCTCATATATATGTCCCATATATACATATCTCATATATATGTCCCATAT ATACATATCTCATATATATGTCCCATATATACATATCTCATATATATGTC CCATATATACATATCTCATATATATGTCCCATATATACATATCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG01123.hp2 HG01515.hp1 others(3): Show HG00323.hp1 HG01123.hp2 HG01515.hp1 HG04204.hp2 NA18955.hp1 NA18957.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0021 a0002c0002t0001 a0002c0002t0021	a0002c0002t0001g0001 a0002c0002t0001g0010 a0002c0002t0001g0025 others(1): Show a0002c0002t0001g0001 a0002c0002t0001g0010 a0002c0002t0001g0025 a0002c0002t0021g0001	6	350	0.0171	244	c.-46 others(255): Show c.-4681_-4680insATATATGTCCCATATCTATCTCATATATATGTCC CATATATATCTATCTCATATATATGTCCCATATATATCTATCTCATATAT ATGTCCCATATATCTATCTCATATATATGTCCCATATATACATATCTCAT ATATATGTCCCATATATACATATCTCATATATATGTCCCATATATACATA TCTCATATATATGTCCCATATATACATATCTCATATATATGTCCCATATA TACATATCTC	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		4577		chr10	TogoVar
ZNF430_chr19_21015657_21065050	21019661	A A	AATATATA others(237): Show AATATATAAATATATATAAAAATATATATAAATATATAAATATATATATA TAAATATATATAAATATATATAAATATATAAATATATATATAAATATATA TAAATATATATAAATATATAAATATATATATATAAATATATATAAATATA TAAATATATATATAAATATATATAAATATAAATATATATATATAAATATA TATAAATATATAAATATATATAAATATATATAAATATAAATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0124 a0001c0001t0014g0124	1	298	0.0034	244	c.-11 others(255): Show c.-1140_-1139insATATATAAATATATATAAAAATATATATAAATAT ATAAATATATATATATAAATATATATAAATATATATAAATATATAAATAT ATATATAAATATATATAAATATATATAAATATATAAATATATATATATAA ATATATATAAATATATAAATATATATATAAATATATATAAATATAAATAT ATATATATAAATATATATAAATATATAAATATATATAAATATATATAAAT ATAAATATAT	ZNF430	ENSG00000118620.13	transcript	ENST00000261560.10	protein_coding		995		chr19	TogoVar
ZNF543_chr19_57315472_57335770	57319459	C C	CATATATA others(237): Show CATATATATACATATATATACACATACATACATATATATACATATATATA CACATACATATATATACATATATATACACATACATACATATATATACATA TATATACACATACATACATATATATACATATATACACATACATACATATA TATACATATATACATATACATACATATATATACATATATATACATATACA TACATATATATACATATATATACATATACATACATATATATACAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0017 a0002c0002t0002g0017	1	460	0.0022	244	c.-13 others(255): Show c.-1395_-1394insATATATATACATATATATACACATACATACATAT ATATACATATATATACACATACATATATATACATATATATACACATACAT ACATATATATACATATATATACACATACATACATATATATACATATATAC ACATACATACATATATATACATATATACATATACATACATATATATACAT ATATATACATATACATACATATATATACATATATATACATATACATACAT ATATATACAT	ZNF543	ENSG00000178229.8	transcript	ENST00000321545.5	protein_coding		1012		chr19	TogoVar
ABCA8_chr17_68862289_68960392	68958591	A A	ATATAATT others(238): Show ATATAATTATATATAATATATAATATAATTATATATAATATATAATATAA TTATATATAATATATAATATAATTATATATAATATATAATATAATTATAT ATAATATATAATATAATTATATATAATATATAATATAATTATATATAATA TATAATATAATTATATATAATATATAATATATAATATAATTATATAAAAT ATATAATATATTATATAATTATATATTATATATATTATTTATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0188 a0001c0004t0001g0188	1	274	0.0037	245	c.-35 others(256): Show c.-3540_-3539insATATATAAATAATATATATAATATATAATTATAT AATATATTATATATTTTATATAATTATATTATATATTATATATTATATAT AATTATATTATATATTATATATAATTATATTATATATTATATATAATTAT ATTATATATTATATATAATTATATTATATATTATATATAATTATATTATA TATTATATATAATTATATTATATATTATATATAATTATATTATATATTAT ATATAATTATA	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding		3200		chr17	TogoVar
ABCB5_chr7_20610667_20762008	20668615	C C	CGGCCAGC others(238): Show CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCC GGCCAGCCGCCCAGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTG GCCAGCCGCCCTATCCGGGAGGGGGGTGGAGGGGTCAGCCCCCTGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0011 a0002c0003t0011	a0002c0003t0011g0013 a0002c0003t0011g0013	1	360	0.0028	245	c.170 others(264): Show c.1707+9962_1707+9963insGAGGTGGGGGGGTCAGCCCCCCGCCC GGCCAGCCGCCCAGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTG GCCAGCCGCCCTATCCGGGAGGGGGGTGGAGGGGTCAGCCCCCTGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCC AGCCGCCCCGTCCGGGAGG	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	14/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABHD12B_chr14_50867053_50909970	50870925	A A	AAGAAAGA others(238): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGA AAGAGAGAGAGAGAGAGAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG GAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0311 a0001c0001t0001g0311	1	376	0.0027	245	c.-12 others(256): Show c.-1250_-1249insAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAA AGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGGAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAGAGAGAG	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1127		chr14	TogoVar
ABR_chr17_998519_1184981	1032536	G G	GGCAGAGG others(238): Show GGCAGAGGACGCCACGGGCAACCACCCGCGTCCGTGCTGGGCGCAGAGGA CGCCACGGGCAACCACCCGCGTCCGTGCTGGGCGCAGAGGACGCCACGGG CAACCACCCGCGTCCGTGCTGGGCGCAGAGGACGCCACGGGCAACCACCC GCGTCCGTGCTGGGCGCAGAGGACGCCACGGGCAACCACCCGCGTCCGTG CTGGGCGCAGAGGACGCCACGGCAACCACCCGCGTCCGTGCTGGGC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	337	0.0030	245	c.179 others(266): Show c.1791+17513_1791+17514insGCCCAGCACGGACGCGGGTGGTTG CCGTGGCGTCCTCTGCGCCCAGCACGGACGCGGGTGGTTGCCCGTGGCGT CCTCTGCGCCCAGCACGGACGCGGGTGGTTGCCCGTGGCGTCCTCTGCGC CCAGCACGGACGCGGGTGGTTGCCCGTGGCGTCCTCTGCGCCCAGCACGG ACGCGGGTGGTTGCCCGTGGCGTCCTCTGCGCCCAGCACGGACGCGGGTG GTTGCCCGTGGCGTCCTCTGC	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	16/22			chr17	TogoVar
ABR_chr17_998519_1184981	1072355	G G	GTGCCGCC others(238): Show GTGCCGCCCGTGTGTGAGAGAAGGGGACGAGGGACCTGCCGCCCGTGTGT GAGAGAAGGGGACGAGGGACCTGCCGCCCGTGTGTGAGAGAAGGGGACGA GGGACCTGCCGCCCGTGTGTGAGAGAAGGGGACGAGGGACCTGCCGCCCG TGTGTGAGAGAAGGGGACGAGGGACCTGCCGCCCGTGTGTGAGAGAAGGG GACGAGGGACCTGCCGCCCGTGTGTGAGAGAAGGGGACGAGGGACC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01123.hp1 HG01169.hp1 others(23): Show HG00438.hp1 HG01123.hp1 HG01169.hp1 HG01257.hp1 HG01258.hp1 HG01433.hp1 HG01952.hp2 HG02015.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp2 HG02300.hp2 HG02523.hp1 HG02717.hp1 HG02895.hp2 HG02897.hp1 HG02970.hp1 HG03831.hp2 HG06807.hp2 NA18940.hp1 NA18948.hp2 NA18982.hp1 NA18999.hp2 NA19056.hp1 NA19066.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0014 a0001c0001t0020 a0001c0001t0026 a0001c0001t0064 a0001c0001t0066 a0001c0001t0069 a0001c0001t0074 a0001c0001t0078 a0001c0001t0091 a0001c0003t0024	a0001c0001t0001g0069 a0001c0001t0001g0083 a0001c0001t0001g0098 others(23): Show a0001c0001t0001g0069 a0001c0001t0001g0083 a0001c0001t0001g0098 a0001c0001t0002g0088 a0001c0001t0002g0114 a0001c0001t0003g0129 a0001c0001t0003g0130 a0001c0001t0004g0290 a0001c0001t0004g0308 a0001c0001t0004g0316 a0001c0001t0005g0273 a0001c0001t0005g0291 a0001c0001t0005g0304 a0001c0001t0005g0322 a0001c0001t0007g0249 a0001c0001t0010g0300 a0001c0001t0014g0103 a0001c0001t0020g0136 a0001c0001t0026g0027 a0001c0001t0064g0239 a0001c0001t0066g0236 a0001c0001t0069g0153 a0001c0001t0074g0115 a0001c0001t0078g0289 a0001c0001t0091g0286 a0001c0003t0024g0040	26	337	0.0772	245	c.894 others(260): Show c.894+258_894+259insGGTCCCTCGTCCCCTTCTCTCACACACGGG CGGCAGGTCCCTCGTCCCCTTCTCTCACACACGGGCGGCAGGTCCCTCGT CCCCTTCTCTCACACACGGGCGGCAGGTCCCTCGTCCCCTTCTCTCACAC ACGGGCGGCAGGTCCCTCGTCCCCTTCTCTCACACACGGGCGGCAGGTCC CTCGTCCCCTTCTCTCACACACGGGCGGCAGGTCCCTCGTCCCCTTCTCT CACACACGGGCGGCA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	8/22			chr17	TogoVar
ACTN4_chr19_38642649_38736589	38735707	G G	GGGGGCGG others(238): Show GGGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGGCGGGGGTTCTGGGGG CGGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGGGTTCTGGGGGCGGGG CGGGGCGGGGCGGTGGTTCTGCGGGCGGGGCGGGGCGGGGCGGGGCGGGG GTTCTGGGGGCGGGGCGGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGG CGGGGGTTCTGGGGGCGGGGCGGGGCGGGGCGGGGGTTCTGGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0144 a0001c0001t0002g0144	1	314	0.0032	245	c.62 others(256): Show c.6275_*6276insGGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGG CGGGGGTTCTGGGGGCGGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGG GTTCTGGGGGCGGGGCGGGGCGGGGCGGTGGTTCTGCGGGCGGGGCGGGG CGGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGGCGGGGCGGGGGTTCT GGGGGCGGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGGCGGGGCGGGG GTTCTGGGGGC	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4119		chr19	TogoVar
ADAMTS3_chr4_72275969_72574221	72400327	T T	TATATACA others(238): Show TATATACACACGGTGTGTATATATACGTGTGCATAGATATACACACGGTG TGTATATATACGTGTGCATAGATATACACACGGTGTGTATATATACGTGT GCATAGATATACACACGGTGTGTATATATACGTGTGCATAGATATACACA CGGTGTGTATATATACGTGTGCATAGATATACACACGGTGTGTATATATA CGTGTGCATAGATATACACACGGTGTGTATATATACGTGTGCATAG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01081.hp1 HG01433.hp1 others(7): Show HG00741.hp2 HG01081.hp1 HG01433.hp1 HG01496.hp1 HG02074.hp1 HG02572.hp1 HG02886.hp1 HG03490.hp1 HG03492.hp1 HG03927.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0003t0001 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0089 a0001c0001t0001g0106 a0001c0001t0001g0167 others(7): Show a0001c0001t0001g0089 a0001c0001t0001g0106 a0001c0001t0001g0167 a0001c0001t0001g0172 a0001c0001t0001g0176 a0001c0001t0002g0038 a0001c0001t0004g0178 a0001c0003t0001g0161 a0002c0002t0001g0096 a0002c0002t0002g0057	10	182	0.0550	245	c.661 others(264): Show c.661+14487_661+14488insCTATGCACACGTATATATACACACCG TGTGTATATCTATGCACACGTATATATACACACCGTGTGTATATCTATGC ACACGTATATATACACACCGTGTGTATATCTATGCACACGTATATATACA CACCGTGTGTATATCTATGCACACGTATATATACACACCGTGTGTATATC TATGCACACGTATATATACACACCGTGTGTATATCTATGCACACGTATAT ATACACACCGTGTGTATAT	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	4/21			chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72400772	C C	CGTGTGCA others(238): Show CGTGTGCATAGATATACACACGGTGTGTATATATACGTGTGCATAGATAT ACACACGGTGTGTATATATACGTGTGCATAGATATACACACGGTGTGTAT ATATACGTGTGCATAGATATACACACGGTGTGTATATATACGTGTGCATA GATATACACACGGTGTGTATATATACGTGTGCATAGATATACACACGGTG TGTATATATACGTGTGCATAGATATACACATGGTGGGTATATGTAT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0027	1	182	0.0055	245	c.661 others(264): Show c.661+14042_661+14043insATACATATACCCACCATGTGTATATC TATGCACACGTATATATACACACCGTGTGTATATCTATGCACACGTATAT ATACACACCGTGTGTATATCTATGCACACGTATATATACACACCGTGTGT ATATCTATGCACACGTATATATACACACCGTGTGTATATCTATGCACACG TATATATACACACCGTGTGTATATCTATGCACACGTATATATACACACCG TGTGTATATCTATGCACAC	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	4/21			chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72400778	C C	CATAGATA others(238): Show CATAGATATACACACGGTGTGTATATATACGTGTGCATAGATATACACAC GGTGTGTATATATACGTGTGCATAGATATACACACGGTGTGTATATATAC GTGTGCATAGATATACACACGGTGTGTATATATACGTGTGCATAGATATA CACACGGTGTGTATATATACGTGTGCATAGATATACACACGGTGTGTATA TATACGTGTGCATAGATATACACATGGTGGGTATATGTATGTGTGT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp2 HG02451.hp1 others(3): Show HG01243.hp1 HG01243.hp2 HG02451.hp1 HG02630.hp1 HG02647.hp1 HG02965.hp1	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0001c0003 a0003c0008 others(1): Show a0001c0001 a0001c0003 a0003c0008 a0006c0016	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0003c0008t0025 a0006c0016t0021	a0001c0001t0001g0091 a0001c0001t0002g0030 a0001c0001t0002g0032 others(3): Show a0001c0001t0001g0091 a0001c0001t0002g0030 a0001c0001t0002g0032 a0001c0003t0001g0180 a0003c0008t0025g0028 a0006c0016t0021g0029	6	182	0.0330	245	c.661 others(264): Show c.661+14036_661+14037insACACACATACATATACCCACCATGTG TATATCTATGCACACGTATATATACACACCGTGTGTATATCTATGCACAC GTATATATACACACCGTGTGTATATCTATGCACACGTATATATACACACC GTGTGTATATCTATGCACACGTATATATACACACCGTGTGTATATCTATG CACACGTATATATACACACCGTGTGTATATCTATGCACACGTATATATAC ACACCGTGTGTATATCTAT	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	4/21			chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72456152	A A	ATATATAG others(238): Show ATATATAGTATATATACTGTATATACTATATATATTTTATATATAGTATA TATACTGTATATACTATATATATTTTATATATAGTATATATACTGTATAT ACTATATATATTTTATATATATTTTATATATAGTATGTACTCTATATATT TTATATATAGTATGTACTCTATATATTTTATATATAGTATGTACTCTATA TATTTTATATATAGTATGTACTATATATTTTATATATAGTATGTAC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01081.hp2 HG01167.hp2 others(1): Show HG01070.hp1 HG01081.hp2 HG01167.hp2 HG03927.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0011 a0002c0002 a0001c0001 a0001c0011 a0002c0002	a0001c0001t0001 a0001c0011t0001 a0002c0002t0001 a0001c0001t0001 a0001c0011t0001 a0002c0002t0001	a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0011t0001g0081 others(1): Show a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0011t0001g0081 a0002c0002t0001g0096	4	182	0.0220	245	c.505 others(264): Show c.505-41182_505-41181insGTACATACTATATATAAAATATATAG TACATACTATATATAAAATATATAGAGTACATACTATATATAAAATATAT AGAGTACATACTATATATAAAATATATAGAGTACATACTATATATAAAAT ATATATAAAATATATATAGTATATACAGTATATATACTATATATAAAATA TATATAGTATATACAGTATATATACTATATATAAAATATATATAGTATAT ACAGTATATATACTATATA	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
ADGRB3_chr6_68630282_69394506	69100856	A A	AGGAAGGA others(238): Show AGGAAGGAAGGAAGAAGCGAGGGAGGGAAGGAAGGAAGGAGGGAGGGAGG GAAGGAAGGAAGGAGAGAGGGAAGAAGGCAGGGAGGGAAGGAGGGAGGGA AGGAAGAAAGGAAGGAGGGAGGGAGGGAAGGAAGGAGGGAGGGAGGGAGG GAAGGAAGGAGGGAAGGAAGGAAGGAGGGAGTGAAGGAAGGCAGGGAGTG AGGGAGGGAGGAAAGGAAGGGACGAAGGAAGGAAGGAAGAAGGGAG	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0098 a0002c0004t0001g0098	1	120	0.0083	245	c.248 others(266): Show c.2480+24831_2480+24832insAAGCGAGGGAGGGAAGGAAGGAAG GAGGGAGGGAGGGAAGGAAGGAAGGAGAGAGGGAAGAAGGCAGGGAGGGA AGGAGGGAGGGAAGGAAGAAAGGAAGGAGGGAGGGAGGGAAGGAAGGAGG GAGGGAGGGAGGGAAGGAAGGAGGGAAGGAAGGAAGGAGGGAGTGAAGGA AGGCAGGGAGTGAGGGAGGGAGGAAAGGAAGGGACGAAGGAAGGAAGGAA GAAGGGAGGGAAGGAAGGAAG	ADGRB3	ENSG00000135298.15	transcript	ENST00000370598.6	protein_coding	17/31		INFO_REALIGN_3_PRIME	chr6	TogoVar
ADGRB3_chr6_68630282_69394506	69100860	A A	AGGAAGGA others(238): Show AGGAAGGAAGAAGCGAGGGAGGGAAGGAAGGAAGGAGGGAGGGAGGGAAG GAAGGAAGGAGAGAGGGAAGAAGGCAGGGAGGGAAGGAGGGAGGGAAGGA AGAAAGGAAGGAGGGAGGGAGGGAAGGAAGGAGGGAGGGAGGGAGGGAAG GAAGGAGGGAAGGAAGGAAGGAGGGAGTGAAGGAAGGCAGGGAGTGAGGG AGGGAGGAAAGGAAGGGACGAAGGAAGGAAGGAAGAAGGGAGGGAG	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0064	1	120	0.0083	245	c.248 others(266): Show c.2480+24831_2480+24832insAAGCGAGGGAGGGAAGGAAGGAAG GAGGGAGGGAGGGAAGGAAGGAAGGAGAGAGGGAAGAAGGCAGGGAGGGA AGGAGGGAGGGAAGGAAGAAAGGAAGGAGGGAGGGAGGGAAGGAAGGAGG GAGGGAGGGAGGGAAGGAAGGAGGGAAGGAAGGAAGGAGGGAGTGAAGGA AGGCAGGGAGTGAGGGAGGGAGGAAAGGAAGGGACGAAGGAAGGAAGGAA GAAGGGAGGGAGGGAAGGAAG	ADGRB3	ENSG00000135298.15	transcript	ENST00000370598.6	protein_coding	17/31		INFO_REALIGN_3_PRIME	chr6	TogoVar
ADGRG2_chrX_18984307_19127468	19074544	T T	TTTCTTCT others(238): Show TTTCTTCTTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTTC TCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTTCTTCCTTCTTCTTCTCCTTCTCCTTCTCCTTC TCCTTCTCCTTCTCCTTCTTCTTCTTCCTTCTTCTTCCTTCTTCTTCTTC TTCCTCTTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0159 a0002c0002t0002g0159	1	188	0.0053	245	c.-1- others(260): Show c.-1-5710_-1-5709insGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAGGAGGAAGAGGAAGAAGAAGAAGAAGGAAGAAGAAGGAAGAAGAAGA AGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGAAGAAGGAAGAA GAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGA AGGAGAAGGAGAAGGAGAAGGAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAAGAAGAA	ADGRG2	ENSG00000173698.18	transcript	ENST00000379869.8	protein_coding	2/28			chrX	TogoVar
ADSS1_chr14_104719229_104752310	104720601	C C	CACGTCTG others(238): Show CACGTCTGCGTCGTCCTCGTGTGGATGCTGCTGTGGACGTCTGCGTCGTC CTCGTGTGGATGCTGCTGTGGACGTCTGCGTCGTCCTCGTGTGGATGCTG CTGTGGACGTCTGCGTCGTCCTCGTGTGGATGCTGCTGTGGACGTCTGCG TCGTCCTCGTGTGGATGCTGCTGTGGACGTCTGCGTCGTCCTCGTGTGGA TGCTGCTGTGGACGTCTGCGTCGTCCTCGTGTGGATGCTGCTGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0001 a0001c0001t0006g0001	1	402	0.0025	245	c.-36 others(256): Show c.-3670_-3669insACGTCTGCGTCGTCCTCGTGTGGATGCTGCTGTG GACGTCTGCGTCGTCCTCGTGTGGATGCTGCTGTGGACGTCTGCGTCGTC CTCGTGTGGATGCTGCTGTGGACGTCTGCGTCGTCCTCGTGTGGATGCTG CTGTGGACGTCTGCGTCGTCCTCGTGTGGATGCTGCTGTGGACGTCTGCG TCGTCCTCGTGTGGATGCTGCTGTGGACGTCTGCGTCGTCCTCGTGTGGA TGCTGCTGTGG	ADSS1	ENSG00000185100.12	transcript	ENST00000330877.7	protein_coding		3627		chr14	TogoVar
AGAP1_chr2_235489043_236136793	235765114	C C	CGTATCTG others(238): Show CGTATCTGGGAGCGTCCGTGGGGTTGGGGGTATCTGGGAGCGTCCGTGGG GTGGGGGCATCTGGGAGCGTCCGTGGGGTGGGGGCATCTGGGAGCGTCCG TGGGGTGGGGGCATCTGGGAGCGTCCGTGGGGTGGGGGCATCTGGGAGCG TCCGTGGGGTGGGGGTATCTGGGAGCGTCCGTGGGGTGGGGGTATCTGGG AGCGTCCGTGGGGGTGGGGGTATCTGGGAGCGTCCGTGGGGTGGGG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp1 HG02717.hp2 others(7): Show HG01884.hp1 HG02109.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02976.hp2 HG03139.hp1 HG03453.hp2 HG03486.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0001c0014	a0001c0001t0003 a0001c0003t0002 a0001c0003t0003 others(6): Show a0001c0001t0003 a0001c0003t0002 a0001c0003t0003 a0001c0003t0009 a0001c0003t0012 a0001c0003t0047 a0001c0005t0001 a0001c0005t0031 a0001c0014t0016	a0001c0001t0003g0034 a0001c0001t0003g0090 a0001c0003t0002g0005 others(7): Show a0001c0001t0003g0034 a0001c0001t0003g0090 a0001c0003t0002g0005 a0001c0003t0003g0001 a0001c0003t0009g0096 a0001c0003t0012g0066 a0001c0003t0047g0033 a0001c0005t0001g0057 a0001c0005t0031g0031 a0001c0014t0016g0048	10	98	0.1020	245	c.673 others(264): Show c.673+14649_673+14650insTGGGGGTATCTGGGAGCGTCCGTGGG GTGGGGGCATCTGGGAGCGTCCGTGGGGTGGGGGCATCTGGGAGCGTCCG TGGGGTGGGGGCATCTGGGAGCGTCCGTGGGGTGGGGGCATCTGGGAGCG TCCGTGGGGTGGGGGTATCTGGGAGCGTCCGTGGGGTGGGGGTATCTGGG AGCGTCCGTGGGGGTGGGGGTATCTGGGAGCGTCCGTGGGGTGGGGGTAT CTGGGAGCGTCCGTGGGGT	AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
AHRR_chr5_316714_443285	345201	T T	TGTGTGTG others(238): Show TGTGTGTGTGTCGGATGATGTCCCTGGCTGTGTGTGGGGATGTGTGTGTG GGGAGAGGGGTGGGTGGGTGTGTGTGTCGGATGATGTCCCTGGCTGTGTG TGGGGATGTGTGTGTGTGTGGGGGGGGGGGGGATGTGTGTGTGTGTGTCA GATGATGTCCCTGGCTGTGTGTGGGGATGTGTGTGTGTGTGTGTGTGTCG GATGATGTCCCTGGCTGTGTGTGTGTGTGGGTGTGTGTGTGTGTGG	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0261 a0001c0001t0060g0261	1	268	0.0037	245	c.62+ others(260): Show c.62+1247_62+1248insCGGATGATGTCCCTGGCTGTGTGTGGGGAT GTGTGTGTGGGGAGAGGGGTGGGTGGGTGTGTGTGTCGGATGATGTCCCT GGCTGTGTGTGGGGATGTGTGTGTGTGTGGGGGGGGGGGGGATGTGTGTG TGTGTGTCAGATGATGTCCCTGGCTGTGTGTGGGGATGTGTGTGTGTGTG TGTGTGTCGGATGATGTCCCTGGCTGTGTGTGTGTGTGGGTGTGTGTGTG TGTGGGTGTGTGTGT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	376503	G G	GTGAGAAC others(238): Show GTGAGAACCGTGGGGTGAACGCGGGGAAACACAGGAAAGATGTGAATGAA TGAGAACCGTGGGGTGAACGCGGGGAAACACAGGAAAGATGTGAATGAAT GAGAACCGTGGGGTGAACGCGGGGAAACACAGGAAAGATGTGAATGAATG AGAACCGTGGGGTGAACGCGGGGAAACACAGGAAAGATGTGAATGAATGA GAACCGTGGGGTGAACGCGGGGAAACACAGGAAAGATGTGAATGAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01074.hp1 HG01123.hp2 others(12): Show HG00639.hp1 HG01074.hp1 HG01123.hp2 HG01192.hp1 HG01256.hp1 HG01261.hp2 HG01361.hp1 HG01928.hp2 HG03239.hp1 HG03669.hp2 HG03688.hp2 NA18943.hp1 NA18947.hp1 NA18962.hp1 NA19000.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0008 a0002c0002 others(2): Show a0001c0001 a0001c0008 a0002c0002 a0003c0004 a0005c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0008t0025 a0002c0002t0001 a0002c0002t0006 a0003c0004t0004 a0003c0004t0012 a0003c0004t0053 a0005c0005t0015	a0001c0001t0001g0161 a0001c0001t0003g0041 a0001c0001t0005g0181 others(12): Show a0001c0001t0001g0161 a0001c0001t0003g0041 a0001c0001t0005g0181 a0001c0008t0025g0159 a0002c0002t0001g0184 a0002c0002t0001g0191 a0002c0002t0001g0216 a0002c0002t0006g0095 a0002c0002t0006g0209 a0003c0004t0004g0180 a0003c0004t0004g0200 a0003c0004t0004g0204 a0003c0004t0012g0195 a0003c0004t0053g0198 a0005c0005t0015g0182	15	268	0.0560	245	c.245 others(258): Show c.245-58_245-57insTGAGAACCGTGGGGTGAACGCGGGGAAACACA GGAAAGATGTGAATGAATGAGAACCGTGGGGTGAACGCGGGGAAACACAG GAAAGATGTGAATGAATGAGAACCGTGGGGTGAACGCGGGGAAACACAGG AAAGATGTGAATGAATGAGAACCGTGGGGTGAACGCGGGGAAACACAGGA AAGATGTGAATGAATGAGAACCGTGGGGTGAACGCGGGGAAACACAGGAA AGATGTGAATGAA	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	391377	C C	CGCAGGGC others(238): Show CGCAGGGCGATGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGGG GCAGGGCGAGGCGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCACGGGCG CAGGGCGAGGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGACGC AGGGCGATGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCATGGGGGCA GGGCGAGGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGGG	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0131 a0002c0002t0001g0131	1	268	0.0037	245	c.351 others(264): Show c.351+14670_351+14671insTGAGGGCGCAGGGCGAGGCAGGGCCA GAGCGTGCACGGGGGCAGGGCGAGGCGGGCGCAGGGTGAGGCAGGGCCAG AGCGTGCACGGGCGCAGGGCGAGGAGGGCGCAGGGCGAGGCAGGGCCAGA GCGTGCACGGACGCAGGGCGATGAGGGCGCAGGGCGAGGCAGGGCCAGAG CGTGCATGGGGGCAGGGCGAGGAGGGCGCAGGGCGAGGCAGGGCCAGAGC GTGCACGGGGGCAGGGCGA	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	391422	C C	CGGGCGCA others(238): Show CGGGCGCAGGGCGAGGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCAC GGGCGCAGGGCGAGGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACG GACGCAGGGCGATGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCATGG GGGCAGGGCGAGGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGG GGCAGGGCGAGGCGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCAT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0133 a0001c0001t0058g0133	1	268	0.0037	245	c.351 others(264): Show c.351+14709_351+14710insCGCAGGGCGAGGAGGGCGCAGGGCGA GGCAGGGCCAGAGCGTGCACGGGCGCAGGGCGAGGAGGGCGCAGGGCGAG GCAGGGCCAGAGCGTGCACGGACGCAGGGCGATGAGGGCGCAGGGCGAGG CAGGGCCAGAGCGTGCATGGGGGCAGGGCGAGGAGGGCGCAGGGCGAGGC AGGGCCAGAGCGTGCACGGGGGCAGGGCGAGGCGGGCGCAGGGCGAGGCA GGGCCAGAGCGTGCATGGG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	391569	C C	CGGACACA others(238): Show CGGACACAGGGCGAGGAGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCAC GGGGGCAGGGCGAGGCGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCACG GACACAGGGCGAGGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGG ACACAGGGCGAGGAGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCACGGG GGCAGGGCGAGGCGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCAT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG04204.hp1 HG03927.hp2 HG04204.hp1	a0001 a0002 a0001 a0002	a0001c0017 a0002c0002 a0001c0017 a0002c0002	a0001c0017t0016 a0002c0002t0001 a0001c0017t0016 a0002c0002t0001	a0001c0017t0016g0176 a0002c0002t0001g0010 a0001c0017t0016g0176 a0002c0002t0001g0010	2	268	0.0075	245	c.351 others(264): Show c.351+14855_351+14856insACACAGGGCGAGGAGGGCGCAGGGTG AGGCAGGGCCAGAGCGTGCACGGGGGCAGGGCGAGGCGGGCGCAGGGTGA GGCAGGGCCAGAGCGTGCACGGACACAGGGCGAGGAGGGCGCAGGGCGAG GCAGGGCCAGAGCGTGCACGGACACAGGGCGAGGAGGGCGCAGGGTGAGG CAGGGCCAGAGCGTGCACGGGGGCAGGGCGAGGCGGGCGCAGGGTGAGGC AGGGCCAGAGCGTGCATGG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	391569	C C	CGGACACA others(238): Show CGGACACAGGGCGAGGAGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCAT GGGGGCAGGGCGAGGCGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCATG GGGGCAGGGCGAGGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGG GGGCAGGGCGAGGCGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCATGGG GGCAGGGCGAGGAGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 NA18975.hp1 NA19058.hp2 HG01109.hp2 NA18975.hp1 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0053 a0001c0001t0003g0070 a0001c0001t0003g0087 a0001c0001t0003g0053 a0001c0001t0003g0070 a0001c0001t0003g0087	3	268	0.0112	245	c.351 others(264): Show c.351+14855_351+14856insACACAGGGCGAGGAGGGCGCAGGGTG AGGCAGGGCCAGAGCGTGCATGGGGGCAGGGCGAGGCGGGCGCAGGGTGA GGCAGGGCCAGAGCGTGCATGGGGGCAGGGCGAGGAGGGCGCAGGGCGAG GCAGGGCCAGAGCGTGCACGGGGGCAGGGCGAGGCGGGCGCAGGGTGAGG CAGGGCCAGAGCGTGCATGGGGGCAGGGCGAGGAGGGCGCAGGGTGAGGC AGGGCCAGAGCGTGCATGG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
ALPL_chr1_21504423_21583410	21527015	G G	GTTCTTTT others(238): Show GTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0122 a0001c0001t0003g0122	1	370	0.0027	245	c.-10 others(266): Show c.-105+17529_-105+17530insTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTT	ALPL	ENSG00000162551.14	transcript	ENST00000374840.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
AMFR_chr16_56356452_56430545	56406060	G G	GGGGGAGA others(238): Show GGGGGAGAGGGGGAGAGGGGGGAGAGGGGAGAGGGGGAGAGGGGGGAGAG GGGGAGAGGGGGGAGAGGGGGAGAGGGGGGAGAGGGGGAGAGGGGGGAGA GGGGGGAGAGGGGGGAGAGGGGGAAGGGGGAGGGGAGGGGGGAGAGGGGG GGAGAGGGGGAAGGGGGAGGGGAGGGGGAGAGGGGGGAGGGGAGGGGAGA GGGGGGAGGGGAGAGGGGAGAGAGAAGGGAGGGGGGGGAGGGGAGA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0136 a0001c0001t0014g0136	1	356	0.0028	245	c.667 others(260): Show c.667-817_667-816insTCTCCCCTCCCCCCCCTCCCTTCTCTCTCC CCTCTCCCCTCCCCCCTCTCCCCTCCCCTCCCCCCTCTCCCCCTCCCCTC CCCCTTCCCCCTCTCCCCCCCTCTCCCCCCTCCCCTCCCCCTTCCCCCTC TCCCCCCTCTCCCCCCTCTCCCCCCTCTCCCCCTCTCCCCCCTCTCCCCC TCTCCCCCCTCTCCCCCTCTCCCCCCTCTCCCCCTCTCCCCTCTCCCCCC TCTCCCCCTCTCCCC	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
AMFR_chr16_56356452_56430545	56406060	G G	GGGGGAGA others(238): Show GGGGGAGAGGGGGAGAGGGGGGAGAGGGGAGAGGGGGAGAGGGGGGAGAG GGGGAGAGGGGGGAGAGGGGGAGAGGGGGGAGAGGGGGGAGAGGGGGGAG AGGGGGGAGAGGGGGGAGAGGGGGGAGAGGGGGAAGGGGGAGGGGAGGGG GAGAGGGGGAAGGGGGGAGGGGAGGGGGAGAGGGGGGAGGGGAGGGGGAG AGGGGGGAGGGGAGAGGGGAGAGAGAAGGGAGGGGGGGAGGGGAGA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0225 a0001c0001t0026g0225	1	356	0.0028	245	c.667 others(260): Show c.667-817_667-816insTCTCCCCTCCCCCCCTCCCTTCTCTCTCCC CTCTCCCCTCCCCCCTCTCCCCCTCCCCTCCCCCCTCTCCCCCTCCCCTC CCCCCTTCCCCCTCTCCCCCTCCCCTCCCCCTTCCCCCTCTCCCCCCTCT CCCCCCTCTCCCCCCTCTCCCCCCTCTCCCCCCTCTCCCCCCTCTCCCCC TCTCCCCCCTCTCCCCCTCTCCCCCCTCTCCCCCTCTCCCCTCTCCCCCC TCTCCCCCTCTCCCC	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
ANXA2R_chr5_43034371_43045319	43043792	T T	TTATAATA others(238): Show TTATAATATATATATATATTATATAATATATAATATATATAATATATTAT AATATATAATATATATAATATATTATATAATATATAATATATATAATATA TTATATAATATATAATATATATATTATTATATAATATATAATATATATAA TATATTATATAATATATATATATATATAATATATTATATAATATATAATA TATATAATATATTATATAATATATAATATATATAATATATTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	296	0.0034	245	c.-37 others(256): Show c.-3747_-3746insTATATAATATATTATATATATTATATATTATATA ATATATTATATATATTATATATTATATAATATATTATATATATATATATA TTATATAATATATTATATATATTATATATTATATAATAATATATATATTA TATATTATATAATATATTATATATATTATATATTATATAATATATTATAT ATATTATATATTATAATATATTATATATATTATATATTATATAATATATA TATATATTATA	ANXA2R	ENSG00000177721.5	transcript	ENST00000616064.2	protein_coding		3474		chr5	TogoVar
ARFGAP1_chr20_63267813_63294790	63294172	C C	CGGGGGGA others(238): Show CGGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGC GGGGGAGGGGAGTGCGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGG GGGAGGGGAGTGCGGGGGAAGGGGGAGTGCGGGGGGAGGGGGAGTGTGGG GGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGGGG GAAGGGGGAGTGCGGGGGGAGCGGGGCTGCGGAGGAGCGGGAGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02723.hp1 HG02055.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0054 a0001c0001t0001g0055	2	342	0.0059	245	c.62 others(256): Show c.6299_*6300insGGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGCGG GGGGAGGGGGAGTGCGGGGGAGGGGAGTGCGGGGGAGGGGAGTGCGGGGG GAGGGGGAGTGCGGGGGGAGGGGAGTGCGGGGGAAGGGGGAGTGCGGGGG GAGGGGGAGTGTGGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGGG GAGCGGAGTGTGGGGGAAGGGGGAGTGCGGGGGGAGCGGGGCTGCGGAGG AGCGGGAGTGT	ARFGAP1	ENSG00000101199.13	transcript	ENST00000370283.9	protein_coding		4383		chr20	TogoVar
ARFIP1_chr4_152774954_152917357	152804213	T T	TATATATA others(238): Show TATATATAACATAACATGTATTATATATTATATATAACATAACATGTATT ATATATTATATATAATATAAGATGTATTATATATTATATATAATATAACA TGTATTATATATTATATATAATATAACATGTATTATATATTATATATAAT ATAACATGTATTATATATTATATATAATATAACATGTATTATATATTATA TATAATATAACATGTATTATATATAATATAACATGTATTATATATA	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0335 a0001c0001t0002g0335	1	342	0.0029	245	c.-10 others(264): Show c.-10+23995_-10+23996insCATAACATGTATTATATATTATATAT AACATAACATGTATTATATATTATATATAATATAAGATGTATTATATATT ATATATAATATAACATGTATTATATATTATATATAATATAACATGTATTA TATATTATATATAATATAACATGTATTATATATTATATATAATATAACAT GTATTATATATTATATATAATATAACATGTATTATATATAATATAACATG TATTATATATAATATATAA	ARFIP1	ENSG00000164144.16	transcript	ENST00000353617.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr4	TogoVar

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