Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
UNC80_chr2_209766832_210004296	209956305	A A	AATTCCCT others(206): Show AATTCCCTAATTTCTAATTTCTCCACATTCCTAGTTTCTTTATCTTATGA CAAAAGAAATTTAACAATTATATAAGTAGTATTACATAAATATATCACAA GTGCATTTGTTTTAACTGTTGTATAACACATTACTACAAACTTAGAGCCT TTAAACAAAACCCATTTATTATCTCACAGTTGTGTAGGCCAGGAGTCCAG GTAGGCTCAGCTGG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0035 a0001c0007t0001g0035	1	188	0.0053	213	c.745 others(232): Show c.7458-1335_7458-1334insCCTAATTTCTAATTTCTCCACATTCC TAGTTTCTTTATCTTATGACAAAAGAAATTTAACAATTATATAAGTAGTA TTACATAAATATATCACAAGTGCATTTGTTTTAACTGTTGTATAACACAT TACTACAAACTTAGAGCCTTTAAACAAAACCCATTTATTATCTCACAGTT GTGTAGGCCAGGAGTCCAGGTAGGCTCAGCTGGATTC	UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	48/64		INFO_REALIGN_3_PRIME	chr2	TogoVar
UNC80_chr2_209766832_210004296	209956305	A A	AATTCCCT others(206): Show AATTCCCTAATTTCTAATTTCTCCACATTCCTAGTTTCTTTATCTTATGA CAAAAGAAATTTAACAATTATATAAGTAGTGTTACATAAATATATCACAA GTGCATTAGTTTTAACTGTTGTATAACACATTACTACAAACTTAGAGCCT TTAAACAAAACCCATTTATTATCTCACAGTTGTGTAGGCCAGGAGTCCAG GTAGGCTCAGCTGG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01261.hp1 HG01255.hp1 HG01261.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0047 a0001c0002t0001g0048	2	188	0.0106	213	c.745 others(232): Show c.7458-1335_7458-1334insCCTAATTTCTAATTTCTCCACATTCC TAGTTTCTTTATCTTATGACAAAAGAAATTTAACAATTATATAAGTAGTG TTACATAAATATATCACAAGTGCATTAGTTTTAACTGTTGTATAACACAT TACTACAAACTTAGAGCCTTTAAACAAAACCCATTTATTATCTCACAGTT GTGTAGGCCAGGAGTCCAGGTAGGCTCAGCTGGATTC	UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	48/64		INFO_REALIGN_3_PRIME	chr2	TogoVar
VAV2_chr9_133756894_133997324	133791889	G G	GGTGAGCG others(206): Show GGTGAGCGGGCTGTGCTGGGTGGGGTGTGTGTGACTGTGTGTGTAAGCAG GCTGTACTGGGTGGGGTGTGTGTGTGTGAGCATGTGTGAGCGGACTGTGC TGTGGTGTGTGTGTGAGACAGCATGTGTGTGTGAGCGGGCTGTGCTGGGT GGGGTGTGTGTGACTGTGTGTGTGTAAGTGGGCTGTACTGGGTGGGGTGT GTGTGATTGTGTGT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0005 a0001c0010t0005	a0001c0010t0005g0167 a0001c0010t0005g0167	1	200	0.0050	213	c.110 others(228): Show c.1102-21_1102-20insACACACAATCACACACACCCCACCCAGTAC AGCCCACTTACACACACACAGTCACACACACCCCACCCAGCACAGCCCGC TCACACACACATGCTGTCTCACACACACACCACAGCACAGTCCGCTCACA CATGCTCACACACACACACCCCACCCAGTACAGCCTGCTTACACACACAG TCACACACACCCCACCCAGCACAGCCCGCTCAC	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	12/29			chr9	TogoVar
VCX3A_chrX_6528618_6540118	6533346	C C	CCCTCCCT others(206): Show CCCTCCCTCCCTCCCCACACACCTCCTCTTCCTCCCTCCCTCCCCACACA CCACCTCTTCCCCCCTCCCTCCCTCCCCACACACCTCCTCTTACTCCCTC CCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACAC CTCTTCCTCCCTCCCTCCCTCCCCACACACCTCTTCCTTCCTCCCTCCCC ACACACCTCCTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0007 a0007	a0007c0022 a0007c0022	a0007c0022t0003 a0007c0022t0003	a0007c0022t0003g0031 a0007c0022t0003g0031	1	74	0.0135	213	c.39 others(222): Show c.398_*399insAAGAGGAGGTGTGTGGGGAGGGAGGAAGGAAGAGGT GTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGG AGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGTAAGAGGAGGTGTGT GGGGAGGGAGGGAGGGGGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAA GAGGAGGTGTGTGGGGAGGGAGGGAGG	VCX3A	ENSG00000169059.13	transcript	ENST00000381089.7	protein_coding		271		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8467143	A A	AGGAGGTG others(206): Show AGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGA GGGAGGGAGGAAGCGGTGGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGG TGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGGAGGGAGG GAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGA GGGAGGGAGGAAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0013 a0013	a0013c0012 a0013c0012	a0013c0012t0003 a0013c0012t0003	a0013c0012t0003g0010 a0013c0012t0003g0010	1	271	0.0037	213	c.76 others(222): Show c.760_*761insGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGT GTGTGGGGAGGGAGGGAGGGAGGAAGCGGTGGTGTGGGGAGGGAGGGAGG GAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTG TGGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGT GTGTGGGGAGGGAGGGAGGGAGGAAGC	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		634		chrX	TogoVar
VIPR2_chr7_159023175_159149867	159132955	C C	CAGACAGA others(206): Show CAGACAGAATGATTGGCATACAGATTGATTTCAGACAGAATGATTGGCAT ACAGATTGATTTCAGACAGAATGATTGGCATACAGATTGATTTCAGACAG AATGATTGGCATACAGATTGATTTTAGAATGATTGGCATACCGATTGATT TTAGACAGAATGATTGGCATACAGATTGATTTCAGACAGAATGATTGGCA TACCGATTGATTTT	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0302 a0001c0001t0001g0302	1	336	0.0030	213	c.151 others(230): Show c.151+9490_151+9491insAAAATCAATCGGTATGCCAATCATTCTG TCTGAAATCAATCTGTATGCCAATCATTCTGTCTAAAATCAATCGGTATG CCAATCATTCTAAAATCAATCTGTATGCCAATCATTCTGTCTGAAATCAA TCTGTATGCCAATCATTCTGTCTGAAATCAATCTGTATGCCAATCATTCT GTCTGAAATCAATCTGTATGCCAATCATTCTGTCT	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	2/12			chr7	TogoVar
VRK2_chr2_58041806_58164871	58137180	A A	ATCATATA others(206): Show ATCATATATGATACATATATCATATATATCATATATGATACATATATCAT ATATATGATACATGTATCATATATGATACATATATCATATATATGATACA TGTATCATATATGATACATATATATCATATATATGATACATATATATCAT ATATATGATACATATATATCATATATATGATACATATATATCTCATATAT GATACATATATATC	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0220 a0001c0001t0002g0220	1	340	0.0029	213	c.856 others(230): Show c.856+2000_856+2001insCATATATATCATATATGATACATATATC ATATATATGATACATGTATCATATATGATACATATATCATATATATGATA CATGTATCATATATGATACATATATATCATATATATGATACATATATATC ATATATATGATACATATATATCATATATATGATACATATATATCTCATAT ATGATACATATATATCTCATATATGATACATATAT	VRK2	ENSG00000028116.18	transcript	ENST00000340157.9	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
WDR87_chr19_37879823_37911594	37881047	A A	ATATATAA others(206): Show ATATATAATATATATATATAATATATATATATATAATATATATATATAAT ATATATATATATAATATATATATATATTATATATATATATAATATATATA TTATATATATATTATATATATATAATATATATTATATATATATAATATAT ATATAATATATATATATTATATATATATAATATATATATTATATATATAT TATATATATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	330	0.0030	213	c.38 others(224): Show c.3884_*3885insAATATATATATATAATATATATATAATATATATA TTATATATATATAATATATATATATTATATATATATTATATATATATAAT ATATATTATATATATATAATATATATATAATATATATATTATATATATAT ATAATATATATATATATTATATATATATATATTATATATATATATTATAT ATATATATATTATATATATATATTATATA	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3775		chr19	TogoVar
WDR87_chr19_37879823_37911594	37881138	T T	TAATATAT others(206): Show TAATATATATATAATATATATATTATATATATATAATATATATATTATAT ATATATAATATATATATATATTATATATATTATATATATATAATATATAT ATAATATATATATAATATATATATAATATATATATTATATATATATTATA TATATAATATATATATATTTTATATATATATTATATATATATATATATAG AGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18956.hp1 NA18970.hp2 NA18983.hp2 others(1): Show NA18956.hp1 NA18970.hp2 NA18983.hp2 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0014 a0001c0001t0002g0001 a0001c0001t0002g0014	4	330	0.0121	213	c.37 others(224): Show c.3793_*3794insCTCTCTCTCTCTCTCTATATATATATATATATAA TATATATATAAAATATATATATATTATATATATAATATATATATAATATA TATATTATATATATATTATATATATATTATATATATATTATATATATATA ATATATATAATATATATATATATTATATATATATAATATATATATTATAT ATATATAATATATATATTATATATATATT	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3684		chr19	TogoVar
WDR87_chr19_37879823_37911594	37881138	T T	TAATATAT others(206): Show TAATATATATATAATATATATATTATATATATATAATATATATATTATAT ATATATAATATATATATATATTATATATATTATATATATATAATATATAT ATAATATATATATAATATATATATAATATATATATTATATATATATTATA TATATAATATATATATATTTTATATATATATTATATATATATATATATAT AGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0014	1	330	0.0030	213	c.37 others(224): Show c.3793_*3794insCTCTCTCTCTCTCTATATATATATATATATATAA TATATATATAAAATATATATATATTATATATATAATATATATATAATATA TATATTATATATATATTATATATATATTATATATATATTATATATATATA ATATATATAATATATATATATATTATATATATATAATATATATATTATAT ATATATAATATATATATTATATATATATT	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3684		chr19	TogoVar
WDR87_chr19_37879823_37911594	37881138	T T	TAATATAT others(206): Show TAATATATATATAATATATATATTATATATATATAATATATATATTATAT ATATATAATATATATATATATTATTATATATTATATATATATAATATATA TATAATATATATATAATATATATATAATATATATATTATATATATATTAT ATATATAATATATATATTTTACATATATATTATATATATATATATTATAG AGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0036 a0036	a0036c0055 a0036c0055	a0036c0055t0002 a0036c0055t0002	a0036c0055t0002g0083 a0036c0055t0002g0083	1	330	0.0030	213	c.37 others(224): Show c.3793_*3794insCTCTCTCTCTCTCTCTATAATATATATATATATA ATATATATGTAAAATATATATATTATATATATAATATATATATAATATAT ATATTATATATATATTATATATATATTATATATATATTATATATATATAA TATATAATAATATATATATATATTATATATATATAATATATATATTATAT ATATATAATATATATATTATATATATATT	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3684		chr19	TogoVar
WDR87_chr19_37879823_37911594	37881138	T T	TAATATAT others(206): Show TAATATATATATAATATATATATTATATATATATAATATATATATTATAT ATATATAATATATATATATTATATATATTATATATATATAATATATATAT AATATATATATAATATATATATAATATATATATTATATATATATTATATA TATAATATATATATATTTTATATATATATTATATATATATATATATATAT AGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	330	0.0030	213	c.37 others(224): Show c.3793_*3794insCTCTCTCTCTCTCTATATATATATATATATATAT AATATATATATAAAATATATATATATTATATATATAATATATATATAATA TATATATTATATATATATTATATATATATTATATATATATTATATATATA TAATATATATAATATATATATATTATATATATATAATATATATATTATAT ATATATAATATATATATTATATATATATT	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3684		chr19	TogoVar
WDR87_chr19_37879823_37911594	37881138	T T	TAATATAT others(206): Show TAATATATATATAATATATATATTATATATATATAATATATATATTATAT ATATATAATATATATATATTATATATATTATATATATATAATATATATAT AATATATATATAATATATATATATAATATATATATTATATATATATTATA TATATAATATATATATATTTTATATATATATTATATATATATATATATAT AGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0017 a0017	a0017c0038 a0017c0038	a0017c0038t0002 a0017c0038t0002	a0017c0038t0002g0074 a0017c0038t0002g0074	1	330	0.0030	213	c.37 others(224): Show c.3793_*3794insCTCTCTCTCTCTCTATATATATATATATATATAA TATATATATAAAATATATATATATTATATATATAATATATATATAATATA TATATTATATATATATATTATATATATATTATATATATATTATATATATA TAATATATATAATATATATATATTATATATATATAATATATATATTATAT ATATATAATATATATATTATATATATATT	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3684		chr19	TogoVar
XPR1_chr1_180627022_180895279	180656475	C C	CATTATAT others(206): Show CATTATATATAATATTTATTTATATATAATATATATATTATATATAATAT TTATATATTATATATAATATATATATATTATATATAATATTTATATATTA TATATAATATATAAATATTATATATAATATTTATATATTATATATAATAT ATATATTATATATAATATTTATATATTATATATAATATTTATATATTATA TATAATATTTATAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01099.hp1 HG02055.hp2 others(1): Show HG01074.hp1 HG01099.hp1 HG02055.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0001 a0001c0001t0016	a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0203 others(1): Show a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0203 a0001c0001t0016g0200	4	330	0.0121	213	c.69+ others(230): Show c.69+24223_69+24224insTTATATATAATATATATATTATATATAA TATTTATATATTATATATAATATATATATATTATATATAATATTTATATA TTATATATAATATATAAATATTATATATAATATTTATATATTATATATAA TATATATATTATATATAATATTTATATATTATATATAATATTTATATATT ATATATAATATTTATATATTATATATAATATTTAT	XPR1	ENSG00000143324.14	transcript	ENST00000367590.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
XPR1_chr1_180627022_180895279	180656475	C C	CATTATAT others(206): Show CATTATATATAATATTTATTTATATATAATATATATATTATATATAATAT TTATATATTATATATAATATATATATATTATATATAATATTTATATATTA TATATAATATATATATATTATATATAATATTTATATATTATATATAATAT ATATATTATATATAATATTTATATATTATATATAATATTTATATATTATA TATAATATTTATAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	330	0.0030	213	c.69+ others(230): Show c.69+24223_69+24224insTTATATATAATATATATATTATATATAA TATTTATATATTATATATAATATATATATATTATATATAATATTTATATA TTATATATAATATATATATATTATATATAATATTTATATATTATATATAA TATATATATTATATATAATATTTATATATTATATATAATATTTATATATT ATATATAATATTTATATATTATATATAATATTTAT	XPR1	ENSG00000143324.14	transcript	ENST00000367590.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
XRCC2_chr7_152639776_152681141	152674705	T T	TATATATA others(206): Show TATATATAAAAATATATTTATATAATATATTTTTAAATATATATTATATA TAATATATTTTTAAATATATATTATATATAATATATATTTAAAAATATAT TATATAAATATATTTTAAAATATGTATTATATATAAATATATTTTTAAAT ATATATTATATATAAATATATTTTTAAATATATATTATATATAATATATT TTTAAATATATTTA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02451.hp1 HG02486.hp1 others(4): Show HG01099.hp2 HG02451.hp1 HG02486.hp1 HG02895.hp2 HG02897.hp2 HG03041.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0028 a0001c0001t0005g0332 a0001c0001t0005g0333 others(3): Show a0001c0001t0005g0028 a0001c0001t0005g0332 a0001c0001t0005g0333 a0001c0001t0005g0334 a0001c0001t0005g0335 a0001c0001t0005g0336	7	394	0.0178	213	c.39+ others(228): Show c.39+1335_39+1336insTAAATATATTTAAAAATATATTATATATAA TATATATTTAAAAATATATTTATATATAATATATATTTAAAAATATATTT ATATATAATACATATTTTAAAATATATTTATATAATATATTTTTAAATAT ATATTATATATAATATATATTTAAAAATATATTATATATAATATATATTT AAAAATATATTATATAAATATATTTTTATATAT	XRCC2	ENSG00000196584.4	transcript	ENST00000359321.2	protein_coding	1/2			chr7	TogoVar
XRCC2_chr7_152639776_152681141	152674705	T T	TATATATA others(206): Show TATATATAAAAATATATTTATATAATATATTTTTAAATATATATTATATA TAATATATTTTTAAATATATATTATATATAATATATATTTAAAAATATAT TATATAAATATATTTTAAAATATGTATTATATATAAATATATTTTTAAAT ATATATTATATATAATATATTTTTAAATATATATTATATATAATATATTT TTAAATATATATTA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0338 a0001c0001t0005g0338	1	394	0.0025	213	c.39+ others(228): Show c.39+1335_39+1336insTAATATATATTTAAAAATATATTATATATA ATATATATTTAAAAATATATTATATATAATATATATTTAAAAATATATTT ATATATAATACATATTTTAAAATATATTTATATAATATATTTTTAAATAT ATATTATATATAATATATATTTAAAAATATATTATATATAATATATATTT AAAAATATATTATATAAATATATTTTTATATAT	XRCC2	ENSG00000196584.4	transcript	ENST00000359321.2	protein_coding	1/2			chr7	TogoVar
XRCC2_chr7_152639776_152681141	152674705	T T	TATATATA others(206): Show TATATATAAAAATATATTTATATAATATATTTTTAAATATATATTATATA TAATATATTTTTAAATATATATTATATATATATATTTTTAAATATATATT ATATATAATATATATTTAAAAATATATTATATAAATATATTTTAAAATAT GTATTATATATAAATATATTTTTAAATATATATTATATATAAATATATTT TTAAATATATATTA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0278 a0001c0001t0012g0278	1	394	0.0025	213	c.39+ others(228): Show c.39+1335_39+1336insTAATATATATTTAAAAATATATTTATATAT AATATATATTTAAAAATATATTTATATATAATACATATTTTAAAATATAT TTATATAATATATTTTTAAATATATATTATATATAATATATATTTAAAAA TATATATATATAATATATATTTAAAAATATATTATATATAATATATATTT AAAAATATATTATATAAATATATTTTTATATAT	XRCC2	ENSG00000196584.4	transcript	ENST00000359321.2	protein_coding	1/2			chr7	TogoVar
ZNF365_chr10_62369369_62407450	62370865	A A	ACATATAT others(206): Show ACATATATGATATATATATCATATATATCACATATATGATATATATATCA TATATATCACATATATGATATATATATCATATATATCACATATATGATAT ATATATCATATATATCACATATATGATATATATATCATATATATCTCATA TATCATATATATCACATATATCATATATCATATATATCATATATATCACA TACATGATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0069 a0001c0001t0025g0069	1	350	0.0029	213	c.-36 others(224): Show c.-3607_-3606insCATATATGATATATATATCATATATATCACATAT ATGATATATATATCATATATATCACATATATGATATATATATCATATATA TCACATATATGATATATATATCATATATATCACATATATGATATATATAT CATATATATCTCATATATCATATATATCACATATATCATATATCATATAT ATCATATATATCACATACATGATATATAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3503		chr10	TogoVar
ZSCAN22_chr19_58321994_58347332	58326569	G G	GCCTCACA others(206): Show GCCTCACACAGCCGCCCTCACCCTCAGACCCTCAAACAGGCACCCTCACC CTCACACAGGCACCCTCACCCTCAGACCCTCAAACAGGCACCCTCACCCT CAGCCCTCACACAGCCAACCCCATCCCTCACACAGGCACCCTCAGCCCTC ACACAGCCGCCCTCACCCTCAGCCTCACACAGGCACCCTCAGCTCTCACA CAGGCACCCTCAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02145.hp2 HG02559.hp2 HG01891.hp1 HG02145.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0018 a0001c0001t0006g0048 a0001c0001t0006g0018 a0001c0001t0006g0048	3	400	0.0075	213	c.-59 others(222): Show c.-597_-596insCCTCACACAGCCGCCCTCACCCTCAGACCCTCAAAC AGGCACCCTCACCCTCACACAGGCACCCTCACCCTCAGACCCTCAAACAG GCACCCTCACCCTCAGCCCTCACACAGCCAACCCCATCCCTCACACAGGC ACCCTCAGCCCTCACACAGCCGCCCTCACCCTCAGCCTCACACAGGCACC CTCAGCTCTCACACAGGCACCCTCAGC	ZSCAN22	ENSG00000182318.6	transcript	ENST00000329665.5	protein_coding		424		chr19	TogoVar
ZSCAN22_chr19_58321994_58347332	58326617	T T	TCTCACAC others(206): Show TCTCACACAGGCACCCTCAGCCCTCACACAGCCAACCCCATCCCTCACAC AGGCACCCTCAGCCCTCACACAGCCGCCCTCACCCTCAGCCTCACACAGG CACCCTCAGCCTCACACAGGCACCCTCAGCCTCACACAGGCACCCTCAGC TCTCACACAGGCACCCTCAGCTCTCACACAGGCACCCTCAGCCCTCACAC AGCCAACCCCATCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	400	0.0025	213	c.-54 others(222): Show c.-549_-548insCTCACACAGGCACCCTCAGCCCTCACACAGCCAACC CCATCCCTCACACAGGCACCCTCAGCCCTCACACAGCCGCCCTCACCCTC AGCCTCACACAGGCACCCTCAGCCTCACACAGGCACCCTCAGCCTCACAC AGGCACCCTCAGCTCTCACACAGGCACCCTCAGCTCTCACACAGGCACCC TCAGCCCTCACACAGCCAACCCCATCC	ZSCAN22	ENSG00000182318.6	transcript	ENST00000329665.5	protein_coding		376		chr19	TogoVar
ABR_chr17_998519_1184981	1065226	G G	GTTGTTAT others(207): Show GTTGTTATGTGAACTGAGGGCTATGCATGTTCCTCTAGACACTGTTATGT GAACTGAGGGCTATGCATGTTGCTCTAGACACTGTTGTTACGTGAACTGA GGGCTATGCATGTTCCTCTAGATGCTGCTGTTATGTGAACTGAGGGCTAT GCATGTTCCTCTAGGACACTGTTGTTATGTGAACTGAGGGCTATGCATGT TCCTCCAGACACTGT	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0006 a0007c0009t0006	a0007c0009t0006g0090 a0007c0009t0006g0090	1	337	0.0030	214	c.118 others(233): Show c.1182+1850_1182+1851insACAGTGTCTGGAGGAACATGCATAGC CCTCAGTTCACATAACAACAGTGTCCTAGAGGAACATGCATAGCCCTCAG TTCACATAACAGCAGCATCTAGAGGAACATGCATAGCCCTCAGTTCACGT AACAACAGTGTCTAGAGCAACATGCATAGCCCTCAGTTCACATAACAGTG TCTAGAGGAACATGCATAGCCCTCAGTTCACATAACAA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	10/22			chr17	TogoVar
ACACB_chr12_109111587_109273226	109209995	A A	ATGTATAT others(207): Show ATGTATATATACACATACACACACGTGTGTGTATATATGTATATATACAC ACATATATGTGTATATATGTGTATACACACACATATATGTGTATACACAC ATACATGCATGTGTGTATATATGTGTATATACACACACATACATGCATGT GTGTATATACACACACATACATGCATGTGTGTATATATGTGTATATATAC ACACATACGTATGTG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0031 a0031	a0031c0063 a0031c0063	a0031c0063t0010 a0031c0063t0010	a0031c0063t0010g0117 a0031c0063t0010g0117	1	308	0.0033	214	c.324 others(231): Show c.3249+645_3249+646insATATATACACATACACACACGTGTGTGT ATATATGTATATATACACACATATATGTGTATATATGTGTATACACACAC ATATATGTGTATACACACATACATGCATGTGTGTATATATGTGTATATAC ACACACATACATGCATGTGTGTATATACACACACATACATGCATGTGTGT ATATATGTGTATATATACACACATACGTATGTGTGT	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	21/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACAP3_chr1_1287391_1312930	1289808	T T	TGTCTCTG others(207): Show TGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGAGTCTCTGCT CCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCATCCCGTG TCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCC GTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTC TGCCCCGTCCCCCGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0129 a0001c0001t0002g0129	1	295	0.0034	214	c.37 others(225): Show c.3755_*3756insTCGGGGGACGGGGCAGAGACACGGGGGACGGGGC AGAGACACGGGACGGGGCAGAGACACGGGACGGAGCAGAGACACGGGGGA CGGAGCAGAGACACGGGGGACGGGGCAGAGACACGGGATGGAGCAGAGAC ACGGGGGACGGGGCAGAGACACGGGGGACGGAGCAGAGACTCGGGGGACG GGGCAGAGACACGGGGGACGGGGCAGAGAC	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2582		chr1	TogoVar
ACER3_chr11_76855918_77031797	77005980	T T	TAATATAC others(207): Show TAATATACATATATATATATTATATATATACATATATATATATTATATAT ATACATATATATATTATATATATATACATATATATATTATATATATATAC ATATATATATTATATATATATACATATATATATTATATATATATACATAT ATATATTATATATATATACATATATATATTATATATATATACATATATAT ATTATATATATATAC	intron_variant intron_variant	MODIFIER	HG01975.hp1 NA18747.hp2 NA19009.hp2 HG01975.hp1 NA18747.hp2 NA19009.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0001c0001t0049 a0002c0004t0002 a0001c0001t0002 a0001c0001t0049 a0002c0004t0002	a0001c0001t0002g0178 a0001c0001t0049g0172 a0002c0004t0002g0212 a0001c0001t0002g0178 a0001c0001t0049g0172 a0002c0004t0002g0212	3	346	0.0087	214	c.497 others(231): Show c.497+7160_497+7161insATATACATATATATATATTATATATATA CATATATATATATTATATATATACATATATATATTATATATATATACATA TATATATTATATATATATACATATATATATTATATATATATACATATATA TATTATATATATATACATATATATATTATATATATATACATATATATATT ATATATATATACATATATATATTATATATATATACA	ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
ADCY2_chr5_7391138_7835081	7741735	C C	CATCACCA others(207): Show CATCACCATCACAATCTCAATCAGCATCACCATCATCATCACCATCATCA CCATCACCATCCTCATTATCATCATCACCATCATCATCACCATCACCATA ACCATCCCTATCACCATCACCATCATCACCAACACCATCACCTATCATCA CCTTCATCACCATCACCATCCTCATCATCATCACCATCACCATCATCATC CCCATAACCATCCCT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03225.hp1 HG03471.hp2 others(2): Show HG02280.hp2 HG03225.hp1 HG03471.hp2 HG03486.hp1 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0002c0002t0001 a0002c0002t0007	a0001c0001t0002g0026 a0001c0001t0003g0008 a0001c0001t0007g0102 others(2): Show a0001c0001t0002g0026 a0001c0001t0003g0008 a0001c0001t0007g0102 a0002c0002t0001g0083 a0002c0002t0007g0006	5	140	0.0357	214	c.187 others(233): Show c.1872-1922_1872-1921insAATCTCAATCAGCATCACCATCATCA TCACCATCATCACCATCACCATCCTCATTATCATCATCACCATCATCATC ACCATCACCATAACCATCCCTATCACCATCACCATCATCACCAACACCAT CACCTATCATCACCTTCATCACCATCACCATCCTCATCATCATCACCATC ACCATCATCATCCCCATAACCATCCCTATCACCATCAC	ADCY2	ENSG00000078295.17	transcript	ENST00000338316.9	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADGRE2_chr19_14727392_14783560	14774674	T T	TTTTCTTT others(207): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0013 a0003c0003t0013	a0003c0003t0013g0132 a0003c0003t0013g0132	1	218	0.0046	214	c.32- others(227): Show c.32-369_32-368insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	ADGRE2	ENSG00000127507.18	transcript	ENST00000315576.8	protein_coding	2/20			chr19	TogoVar
ADGRE3_chr19_14614117_14679844	14620487	A A	ATATATAT others(207): Show ATATATATGTATATTCATGTATATATGAATATATATGTATATTCATGTAT ATATGAATATATATGTATATTCATGTATATATGAATATATATGTATATTC ATGTATATATGAATATATATGTATATTCATGTATATATGAATATATATGT ATATTCATGTATATATGAATATATATGTATATTCATGTATATATGAATAT ATATGTATATTCATG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0342 a0002c0003t0001g0342	1	372	0.0027	214	c.192 others(233): Show c.1921-1017_1921-1016insCATGAATATACATATATATTCATATA TACATGAATATACATATATATTCATATATACATGAATATACATATATATT CATATATACATGAATATACATATATATTCATATATACATGAATATACATA TATATTCATATATACATGAATATACATATATATTCATATATACATGAATA TACATATATATTCATATATACATGAATATACATATATA	ADGRE3	ENSG00000131355.15	transcript	ENST00000253673.6	protein_coding	15/15			chr19	TogoVar
AFDN_chr6_167821911_167977023	167976505	A A	AGAAGACA others(207): Show AGAAGACAGTGGGGGTCATTCCCCCTGCAGTGTGGGGGGAGGAGAAGACA GTGGGGGTCATTCCCCCTGCAGTGTGTTGGGAGGAGAAGACAGTGGGGGT CATTCCCCCTGCAAGTGTGTTGGGAGGAGGAGGCAGTGGGGGTCATTCCC CCTGCAGTGTGTTGGGAGGAGAAGACAGTGGGGGTCATTCCCCCTGCAGT GTGGGGGGGAGTGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0226 a0001c0001t0002g0226	1	326	0.0031	214	c.65 others(225): Show c.6570_*6571insGAAGACAGTGGGGGTCATTCCCCCTGCAGTGTGG GGGGAGGAGAAGACAGTGGGGGTCATTCCCCCTGCAGTGTGTTGGGAGGA GAAGACAGTGGGGGTCATTCCCCCTGCAAGTGTGTTGGGAGGAGGAGGCA GTGGGGGTCATTCCCCCTGCAGTGTGTTGGGAGGAGAAGACAGTGGGGGT CATTCCCCCTGCAGTGTGGGGGGGAGTGAG	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding		4483		chr6	TogoVar
AFF2_chrX_148495617_149005663	148581331	T T	TATACACG others(207): Show TATACACGTATATATACGTATACGTGTACACACACACGTATATATACGTA TACGTGTACACACACACGTATATATACGTATACGTGTACACACACACGTA TATATACGTATACGTGTACACACACACGTATATATACGTATACGTGTACA CACACACGTATATATACGTATACGTGTACACACACACGTATATATACGTA TACGTGTACACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0031 a0001c0002t0031	a0001c0002t0031g0148 a0001c0002t0031g0148	1	169	0.0059	214	c.48- others(231): Show c.48-70667_48-70666insTACACGTATATATACGTATACGTGTACA CACACACGTATATATACGTATACGTGTACACACACACGTATATATACGTA TACGTGTACACACACACGTATATATACGTATACGTGTACACACACACGTA TATATACGTATACGTGTACACACACACGTATATATACGTATACGTGTACA CACACACGTATATATACGTATACGTGTACACACACA	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AGBL4_chr1_48527854_50028954	49947954	A A	ATATATAT others(207): Show ATATATATAAATATATATATTTATAAATATATATTTATATATATAAATAT ATATATTTATAAATATATATTTATATATATAAATATATATATTTATAAAT ATATATTTATATATATAAATATATATATTTATAAATATATATTTATATAT ATAAATATATATATTTATAAATATATATTTATATATATAAATATATATAT TTATATATATATATT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0096 a0001c0001t0011g0096	1	104	0.0096	214	c.34+ others(231): Show c.34+75808_34+75809insAATATATATATATAAATATATATATTTA TATATATAAATATATATTTATAAATATATATATTTATATATATAAATATA TATTTATAAATATATATATTTATATATATAAATATATATTTATAAATATA TATATTTATATATATAAATATATATTTATAAATATATATATTTATATATA TAAATATATATTTATAAATATATATATTTATATATA	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	1/13			chr1	TogoVar
ANKS1B_chr12_98738974_99989936	99139343	T T	TTCCCTCC others(207): Show TTCCCTCCCTCCTTCTCTCTCTTTTTCTCCCTTCCCTCCCTCCCTCCCTC CCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCTCCCTTCCCTTTCCCTT CCCTTTCCCTTCCTTCTTTCTTTCCTCCTTTCTTTCCTTTCCTTCCTTTC TTTCTTCCTTCCTTCCCTTCCCTTCTTCCTTCCTTCCTTCCTTTCTTCCT CCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0048 a0001c0001t0024g0048	1	48	0.0208	214	c.252 others(235): Show c.2526+14945_2526+14946insGGGAGGGAGGGAGGGAGGAAGAAA GGAAGGAAGGAAGGAAGAAGGGAAGGGAAGGAAGGAAGAAAGAAAGGAAG GAAAGGAAAGAAAGGAGGAAAGAAAGAAGGAAGGGAAAGGGAAGGGAAAG GGAAGGGAGGAGGGAGGGAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGG AGGGAGGGAAGGGAGAAAAAGAGAGAGAAGGAGGGAGGGA	ANKS1B	ENSG00000185046.21	transcript	ENST00000683438.2	protein_coding	15/26			chr12	TogoVar
ANO7_chr2_241183677_241230976	241218129	C C	CGGGGGGC others(207): Show CGGGGGGCAGCGGGGGGCGCGCAGGGGCGGGGCGGGGGGCAGCGGGGGGC GCGTAGGGGCGGGGCGGGGGGGGCAGCGGGGGCGCGCAGGGGGCGGGGGC GGGGGGCAGCGGGGGGCGCGCAGGGGCGGAGCGGGGGCGCGCAGGGGCGG AGCGGGGGCAGCGGGGGCGCGCAGGGGCGGAGCGGGGGCGCGCAGGGGCG GAGCGGGGGGCAGCG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0018 a0018	a0018c0032 a0018c0032	a0018c0032t0007 a0018c0032t0007	a0018c0032t0007g0344 a0018c0032t0007g0344	1	396	0.0025	214	c.217 others(231): Show c.2179-105_2179-104insGCAGCGGGGGGCGCGCAGGGGCGGGGCG GGGGGCAGCGGGGGGCGCGTAGGGGCGGGGCGGGGGGGGCAGCGGGGGCG CGCAGGGGGCGGGGGCGGGGGGCAGCGGGGGGCGCGCAGGGGCGGAGCGG GGGCGCGCAGGGGCGGAGCGGGGGCAGCGGGGGCGCGCAGGGGCGGAGCG GGGGCGCGCAGGGGCGGAGCGGGGGGCAGCGGGGGG	ANO7	ENSG00000146205.15	transcript	ENST00000674324.2	protein_coding	20/24		INFO_REALIGN_3_PRIME	chr2	TogoVar
AOC2_chr17_42839580_42855707	42848544	T T	TATATATA others(207): Show TATATATATACGTATATATATATATATATATACGTATATATATATATATA TATACACGTATATATATATATATATATACGTATATATATATATATATATA CGTATATATATATATATATATACACGTATATATATATATATATACGTATA TATATATATATATATACGTATATATATATATATATACGTATATATATATA TATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	290	0.0035	214	c.158 others(231): Show c.1589-541_1589-540insTATATATACGTATATATATATATATATA TACGTATATATATATATATATATACACGTATATATATATATATATATACG TATATATATATATATATATACGTATATATATATATATATATACACGTATA TATATATATATATACGTATATATATATATATATATACGTATATATATATA TATATACGTATATATATATATATATATATATATACA	AOC2	ENSG00000131480.9	transcript	ENST00000253799.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
AOC3_chr17_42846199_42863124	42848544	T T	TATATATA others(207): Show TATATATATACGTATATATATATATATATATACGTATATATATATATATA TATACACGTATATATATATATATATATACGTATATATATATATATATATA CGTATATATATATATATATATACACGTATATATATATATATATACGTATA TATATATATATATATACGTATATATATATATATATACGTATATATATATA TATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	284	0.0035	214	c.-28 others(225): Show c.-2800_-2799insATATATATACGTATATATATATATATATATACGT ATATATATATATATATATACACGTATATATATATATATATATACGTATAT ATATATATATATATACGTATATATATATATATATATACACGTATATATAT ATATATATACGTATATATATATATATATATACGTATATATATATATATAT ACGTATATATATATATATATATATATATAC	AOC3	ENSG00000131471.7	transcript	ENST00000308423.7	protein_coding		2654		chr17	TogoVar
ARFGAP1_chr20_63267813_63294790	63294172	C C	CGGGGGGA others(207): Show CGGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGTGGGGGGAGGGGAGTGCG GGGGGAGGGGGAGTGCGGGGGGAGGGGAGTGCGGGGGAAGGGGGAGTGCG GGGGGAGGGGGAGTGTGGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGC AGGGGAGCGGAGTGTGGGGGAAGGGGGAGTGCGGGGGGAGCGGGGCTGCC GAGGAGCGGGAGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 NA18944.hp1 HG00558.hp2 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0001 a0001c0001t0001g0006	2	342	0.0059	214	c.62 others(225): Show c.6299_*6300insGGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGTGG GGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGGGGGAGGGGAGTGCGGG GGAAGGGGGAGTGCGGGGGGAGGGGGAGTGTGGGGGGGAGGGGAGTGCGG GGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGGGGGAAGGGGGAGTGCGGG GGGAGCGGGGCTGCCGAGGAGCGGGAGTGT	ARFGAP1	ENSG00000101199.13	transcript	ENST00000370283.9	protein_coding		4383		chr20	TogoVar
ARFGAP1_chr20_63267813_63294790	63294172	C C	CGGGGGGA others(207): Show CGGGGGGAGGGGGAGTGCGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGTG GGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGGGGAAGGGGGAGTGCG GGGGGAGGGGGAGTGTGGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGC AGGGGAGCGGAGTGTGGGGGAAGGGGGAGTGCGGGGGGAGCGGGGCTGCC GAGGAGCGGGAGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	342	0.0029	214	c.62 others(225): Show c.6299_*6300insGGGGGGAGGGGGAGTGCGGGGGAGGGGGAGTGCG GGGGAGGGGAGTGTGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGG GGAAGGGGGAGTGCGGGGGGAGGGGGAGTGTGGGGGGGAGGGGAGTGCGG GGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGGGGGAAGGGGGAGTGCGGG GGGAGCGGGGCTGCCGAGGAGCGGGAGTGT	ARFGAP1	ENSG00000101199.13	transcript	ENST00000370283.9	protein_coding		4383		chr20	TogoVar
ARFGAP1_chr20_63267813_63294790	63294172	C C	CGGGGGGA others(207): Show CGGGGGGAGGGGGAGTGCGGGGGAGGGGGAGTGCGGGGGAGGGGGAGTGC GGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGGGGAAGGGGGAGTGC GGGGGGAGGGGGAGTGTGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGC AGGGGAGCGGAGTGTGGGGGAAGGGGGAGTGCGGGGGGAGCGGGGCTGCC GAGGAGCGGGAGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0195 a0001c0001t0010g0195	1	342	0.0029	214	c.62 others(225): Show c.6299_*6300insGGGGGGAGGGGGAGTGCGGGGGAGGGGGAGTGCG GGGGAGGGGGAGTGCGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCGG GGGAAGGGGGAGTGCGGGGGGAGGGGGAGTGTGGGGGGAGGGGAGTGCGG GGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGGGGGAAGGGGGAGTGCGGG GGGAGCGGGGCTGCCGAGGAGCGGGAGTGT	ARFGAP1	ENSG00000101199.13	transcript	ENST00000370283.9	protein_coding		4383		chr20	TogoVar
ARFGAP1_chr20_63267813_63294790	63294179	G G	GGGGGAGT others(207): Show GGGGGAGTGCGGGGGAGGGGAGTGTGGGGGGAGGGGAGTGCGGGGGGAGG GGGAGTGCGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGGGGGAGG GGGAGTGTGGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGGGGAGC GGAGTGTGGGGGAAGGGGGAGTGCGGGGGGAGCGGGGCTGCCGAGGAGCG GGAGTGTGGGGGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	342	0.0029	214	c.63 others(225): Show c.6306_*6307insGGGGAGTGCGGGGGAGGGGAGTGTGGGGGGAGGG GAGTGCGGGGGGAGGGGGAGTGCGGGGGGAGGGGAGTGCGGGGGGAGGGG GAGTGCGGGGGGAGGGGGAGTGTGGGGGGGAGGGGAGTGCGGGGGGAGGG GGAGTGCAGGGGAGCGGAGTGTGGGGGAAGGGGGAGTGCGGGGGGAGCGG GGCTGCCGAGGAGCGGGAGTGTGGGGGAGT	ARFGAP1	ENSG00000101199.13	transcript	ENST00000370283.9	protein_coding		4390		chr20	TogoVar
ARFGAP1_chr20_63267813_63294790	63294179	G G	GGGGGAGT others(207): Show GGGGGAGTGCGGGGGAGGGGAGTGTGGGGGGAGGGGAGTGCGGGGGGAGG GGGAGTGTGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGGGGGAGG GGGAGTGTGGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGGGGAGC GGAGTGTGGGGGAAGGGGGAGTGCGGGGGGAGCGGGGCTGCCGAGGAGCG GGAGTGTGGGGGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03579.hp1 HG03225.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0056 a0001c0001t0001g0057	2	342	0.0059	214	c.63 others(225): Show c.6306_*6307insGGGGAGTGCGGGGGAGGGGAGTGTGGGGGGAGGG GAGTGCGGGGGGAGGGGGAGTGTGGGGGGAGGGGAGTGCGGGGGGAGGGG GAGTGCGGGGGGAGGGGGAGTGTGGGGGGGAGGGGAGTGCGGGGGGAGGG GGAGTGCAGGGGAGCGGAGTGTGGGGGAAGGGGGAGTGCGGGGGGAGCGG GGCTGCCGAGGAGCGGGAGTGTGGGGGAGT	ARFGAP1	ENSG00000101199.13	transcript	ENST00000370283.9	protein_coding		4390		chr20	TogoVar
ARHGAP28_chr18_6724716_6920716	6909300	C C	CTTTTCTT others(207): Show CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTT	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	248	0.0040	214	c.209 others(231): Show c.2095+280_2095+281insCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTTTTT	ARHGAP28	ENSG00000088756.13	transcript	ENST00000383472.9	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr18	TogoVar
ARHGAP39_chr8_144524179_144690846	144687053	C C	CGTGACCA others(207): Show CGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCCGTGACCACGCACT GGCGGCGAGCACTTCCCACCCCTGTGACCACGCACTGGCGGTGAGCACTT CCCACCCCGTGACCACACACTGGCGGCGAGCACTTCCCACCCCGTGACCA CGCACTGGCGGTGAGCACTTCCCACCCCTGTGACCACGCACTGGCGGTGA GCACTTCCCACCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	246	0.0041	214	c.-14 others(225): Show c.-1450_-1449insAGGGGTGGGAAGTGCTCACCGCCAGTGCGTGGTC ACAGGGGTGGGAAGTGCTCACCGCCAGTGCGTGGTCACGGGGTGGGAAGT GCTCGCCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGC GTGGTCACAGGGGTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACGGGGGT GGGAAGTGCTCGCCGCCAGTGCGTGGTCAC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1208		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687321	C C	CGAGCACT others(207): Show CGAGCACTTCCCACCCCCGTGACCACACACTAGCGGTGAGCACTTCCCAC CCCTGTGACCACACACTGGCGGCGAGCACTTCCCACCCCCGTGACCACAC ACTGGCGGCGAGCACTTCCCACCCCGTGACCACGCACTGGCGGTGAGCAC TTCCCACCCCGTGACCACACACTAGCGGCGAGCACTTCCCACCCCCGTGA CCACACACTAGCGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0025 a0001c0002t0001g0025	1	246	0.0041	214	c.-17 others(225): Show c.-1718_-1717insACCGCTAGTGTGTGGTCACGGGGGTGGGAAGTGC TCGCCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGCGT GGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGGTGGG AAGTGCTCGCCGCCAGTGTGTGGTCACAGGGGTGGGAAGTGCTCACCGCT AGTGTGTGGTCACGGGGGTGGGAAGTGCTC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1476		chr8	TogoVar
ARHGDIG_chr16_275591_288010	285909	C C	CCCAACCC others(207): Show CCCAACCCCAACCCCAACCCCAACCCCAACCCCAACCCCAACCCCGCGGT TCTCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACC CCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAA CCCCGCGGTTCTCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTT CTCCCAACCCCAACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0006 a0001c0001t0004g0006	1	442	0.0023	214	c.30 others(225): Show c.3095_*3096insCCAACCCCAACCCCAACCCCAACCCCAACCCCAA CCCCAACCCCGCGGTTCTCCCAACCCCGCGGTTCTCCCAACCCCAACCCC GCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGG TTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCGCGGTTCTCCCAAC CCCAACCCCGCGGTTCTCCCAACCCCAACA	ARHGDIG	ENSG00000242173.10	transcript	ENST00000219409.8	protein_coding		2900		chr16	TogoVar
ARHGEF18_chr19_7343937_7477478	7367882	A A	ACACATAT others(207): Show ACACATATATATATACACATATATATATTTTATATATATATACACATATA TATTTTATATATATATACACATATATATATTTTATATATATATACACATA TATATATTTTATATATATATACACATATATATATTTTATATATATATACA CATATATATATTTTATATATATATACACATATATATATTTTATATATATA TACACATATATATTT	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0083 a0003c0003t0001g0083	1	298	0.0034	214	c.16- others(229): Show c.16-4930_16-4929insCACATATATATATACACATATATATATTTT ATATATATATACACATATATATTTTATATATATATACACATATATATATT TTATATATATATACACATATATATATTTTATATATATATACACATATATA TATTTTATATATATATACACATATATATATTTTATATATATATACACATA TATATATTTTATATATATATACACATATATATTT	ARHGEF18	ENSG00000104880.19	transcript	ENST00000668164.2	protein_coding	2/28			chr19	TogoVar
ARHGEF7_chr13_111110310_111310732	111221344	T T	TATAGATA others(207): Show TATAGATATATATGTCTATATATATCTATATAGATATATATGTCTATATA TATCTATATAGATATATATGTCTATATATATCTATATAGATATATATGTC TATATATATCTATATAGATATATATGTCTATATATATCTATATAGATATA TATGTCTATATATATCTATATAGATATATATGTCTATATATATCTATATA TAGATATATATAGAC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0058 a0001c0015t0001g0058	1	274	0.0037	214	c.670 others(231): Show c.670+3467_670+3468insGATATATATGTCTATATATATCTATATA GATATATATGTCTATATATATCTATATAGATATATATGTCTATATATATC TATATAGATATATATGTCTATATATATCTATATAGATATATATGTCTATA TATATCTATATAGATATATATGTCTATATATATCTATATAGATATATATG TCTATATATATCTATATATAGATATATATAGACATA	ARHGEF7	ENSG00000102606.20	transcript	ENST00000646102.2	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr13	TogoVar
ARL13B_chr3_93975155_94060678	94043558	C C	CTCCCCCC others(207): Show CTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCCTCCCCCTCCCCCT CCCCCTCCCTCCCCCTTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCC CCTCCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCC CCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCC TCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	264	0.0038	214	c.102 others(231): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCCTTCCCCTCCCCCTC CCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCTCCCCCTCCCCC TCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCT CCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCT	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9			chr3	TogoVar
ASB5_chr4_176208673_176274222	176218550	G G	GATATACA others(207): Show GATATACAAATATATATTTGTATGATATATAAATATATATATTTGTATGA TATATAAATATATATATTTGTATGATATATAAATATATATATTTGTATGA TATATAAATATATATATATTTGTATGATATATAAATATATATATATTTGT ATGATATATAAATATATATATTTGTATGATATATAAATATATATATATTT GTATGATATATAAAT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0025 a0001c0002t0001g0025	1	410	0.0024	214	c.671 others(231): Show c.671-1542_671-1541insATTTATATATCATACAAATATATATATA TTTATATATCATACAAATATATATATTTATATATCATACAAATATATATA TATTTATATATCATACAAATATATATATATTTATATATCATACAAATATA TATATTTATATATCATACAAATATATATATTTATATATCATACAAATATA TATATTTATATATCATACAAATATATATTTGTATAT	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
ATG10_chr5_81967023_82261133	81993359	C C	CTTTCCTT others(207): Show CTTTCCTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0013 a0004c0004t0013	a0004c0004t0013g0196 a0004c0004t0013g0196	1	226	0.0044	214	c.108 others(231): Show c.108+5681_108+5682insTTTCCTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	2/7			chr5	TogoVar
ATP10A_chr15_25673712_25868327	25758309	A A	ACTCATTC others(207): Show ACTCATTCGATCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCA CCCTAACTCATTCGATCACCTGCTCCACCCTAACTCATTCCGACCACCTG CTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTCATTCCGACCACC TGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCG ACCACCTGCTCCACC	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0280 a0003c0003t0002g0280	1	300	0.0033	214	c.655 others(233): Show c.655-22169_655-22168insGGTGGAGCAGGTGGTCGGAATGAGTT AGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAA TGAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGG AATGAGTTAGGGTGGAGCAGGTGATCGAATGAGTTAGGGTGGAGCAGGTG ATCGGAATGAGTTAGGGTGGAGCAGGTGATCGAATGAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar

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