Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ATP6V0A4_chr7_138701294_138803196	138718577	C C	CATGGGGA others(23): Show CATGGGGAGGAATGGGGAGGAATGGGGAGGA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0354 a0003c0004t0002g0354	1	172	0.0058	30	c.214 others(49): Show c.2140-2697_2140-2696insTCCTCCCCATTCCTCCCCATTCCTCC CCAT		ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	19/21						chr7	TogoVar
ATP6V0A4_chr7_138701294_138803196	138803166	T T	TCTTCTGT others(23): Show TCTTCTGTTGTTGTTGACTATGCGTCGAGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0020 a0002c0002t0001g0020	1	374	0.0027	30	c.-52 others(41): Show c.-5254_-5253insTACTCGACGCATAGTCAACAACAACAGAAG		ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding					4971		chr7	TogoVar
ATP6V0D2_chr8_86093910_86159225	86126236	C C	CTATATAT others(23): Show CTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00621.hp1 HG00738.hp1 others(6): Show HG00099.hp1 HG00621.hp1 HG00738.hp1 HG00741.hp1 HG01243.hp1 HG02080.hp1 NA18988.hp1 NA19060.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0033 a0001c0001t0001g0034 others(6): Show a0001c0001t0001g0025 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0070 a0001c0001t0001g0084 a0001c0001t0001g0113 a0001c0001t0001g0310	9	73	0.1233	30	c.302 others(49): Show c.302+12383_302+12384insATATATATATATATATATATATATAT ATAT		ATP6V0D2	ENSG00000147614.4	transcript	ENST00000285393.4	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr8	TogoVar
ATP6V0D2_chr8_86093910_86159225	86126236	C C	CTATATAT others(23): Show CTATATATATATATATGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	65	0.0154	30	c.302 others(49): Show c.302+12371_302+12372insGTATATATATATATATATATATATAT ATAT		ATP6V0D2	ENSG00000147614.4	transcript	ENST00000285393.4	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr8	TogoVar
ATP6V0D2_chr8_86093910_86159225	86158900	A A	AGGTTAGA others(23): Show AGGTTAGACAGCAATAAATGGAAAAGAATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0233 a0001c0001t0002g0233	1	358	0.0028	30	c.59 others(41): Show c.5923_*5924insGGTTAGACAGCAATAAATGGAAAAGAATTT		ATP6V0D2	ENSG00000147614.4	transcript	ENST00000285393.4	protein_coding					4676		chr8	TogoVar
ATP6V1E2_chr2_46506847_46547577	46546451	C C	CATATATA others(23): Show CATATATATATATATATATATGTATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG02809.hp1 HG00639.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0073 a0001c0001t0004g0115 a0001c0001t0001g0073 a0001c0001t0004g0115	2	279	0.0072	30	c.-46 others(41): Show c.-4609_-4608insATATATATACATATATATATATATATATAT		ATP6V1E2	ENSG00000250565.7	transcript	ENST00000522587.6	protein_coding					3875		chr2	TogoVar
ATP8A1_chr4_42403373_42662105	42635782	C C	CACACATA others(23): Show CACACATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0308 a0001c0001t0012g0308	1	72	0.0139	30	c.50- others(45): Show c.50-8674_50-8673insATATATATATATATATATATATATATGTGT		ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	1/36						chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42635782	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0204 a0001c0001t0005g0204	1	72	0.0139	30	c.50- others(45): Show c.50-8674_50-8673insATATATATATATATATATATATATATATAT		ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	1/36						chr4	TogoVar
ATP8A2_chr13_25366974_26030851	25465748	C C	CCTCCCTC others(23): Show CCTCCCTCCCTCTCTCTCTCTCTCTCTCTTT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0024 a0001c0018t0024	a0001c0018t0024g0066 a0001c0018t0024g0066	1	36	0.0278	30	c.77- others(45): Show c.77-3226_77-3225insCCTCCCTCTCTCTCTCTCTCTCTCTTTCTC		ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	1/36					INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25892478	G G	GTCTCTCT others(23): Show GTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03041.hp1 HG03098.hp2 others(1): Show HG02280.hp1 HG03041.hp1 HG03098.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0010 a0001c0001 a0001c0009 a0001c0010	a0001c0001t0046 a0001c0009t0037 a0001c0010t0012 others(1): Show a0001c0001t0046 a0001c0009t0037 a0001c0010t0012 a0001c0010t0056	a0001c0001t0046g0045 a0001c0009t0037g0008 a0001c0010t0012g0090 others(1): Show a0001c0001t0046g0045 a0001c0009t0037g0008 a0001c0010t0012g0090 a0001c0010t0056g0002	4	58	0.0690	30	c.318 others(51): Show c.3183+30096_3183+30097insTCTCTCTCTCTCTCTCTCTCTCTC TCTCTC		ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	33/36					INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8B1_chr18_57641426_57808315	57648882	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA18984.hp1 NA19090.hp1 others(1): Show HG03139.hp1 NA18984.hp1 NA19090.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 others(1): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0039	a0001c0001t0004g0103 a0001c0001t0007g0300 a0001c0001t0008g0142 others(1): Show a0001c0001t0004g0103 a0001c0001t0007g0300 a0001c0001t0008g0142 a0001c0001t0039g0149	4	14	0.2857	30	c.353 others(47): Show c.3532-171_3532-170insTACACACACACACACACACACACACACA CA		ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	27/27						chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57672978	C C	CACATATA others(23): Show CACATATAAATATATGTATATATATAAATAT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0109 a0001c0001t0006g0109	1	305	0.0033	30	c.182 others(49): Show c.1820-1399_1820-1398insATATTTATATATATACATATATTTAT ATGT		ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	16/27						chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57672978	C C	CATATATA others(23): Show CATATATAAATATATGTATATATATAAATAT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0006 a0008c0011t0006	a0008c0011t0006g0028 a0008c0011t0006g0028	1	305	0.0033	30	c.182 others(49): Show c.1820-1399_1820-1398insATATTTATATATATACATATATTTAT ATAT		ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	16/27						chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57680277	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0253 a0001c0001t0009g0253	1	14	0.0714	30	c.163 others(49): Show c.1630+3758_1630+3759insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT		ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	15/27						chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57756192	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0148 a0001c0001t0040g0148	1	142	0.0070	30	c.-25 others(49): Show c.-25-24361_-25-24360insATATATATATATATATATATATATAT ATAT		ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	1/27						chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57756305	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA20300.hp1 HG03540.hp1 NA20300.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0011c0010 a0001c0001 a0011c0010	a0001c0001t0048 a0011c0010t0033 a0001c0001t0048 a0011c0010t0033	a0001c0001t0048g0312 a0011c0010t0033g0080 a0001c0001t0048g0312 a0011c0010t0033g0080	2	138	0.0145	30	c.-25 others(49): Show c.-25-24474_-25-24473insCATATATATATATATATATATATATA TATA		ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	1/27						chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57800148	T T	TTAAGTGC others(23): Show TTAAGTGCTTAAGCAATTTAAAAGGCATCTC	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0127 a0001c0001t0005g0127	1	312	0.0032	30	c.-26 others(47): Show c.-26+2820_-26+2849dupGAGATGCCTTTTAAATTGCTTAAGCACT TA		ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	1/27						chr18	TogoVar
ATP8B4_chr15_49853238_50124233	50072980	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTCTCTCTATATATA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0014 a0014	a0014c0013 a0014c0013	a0014c0013t0010 a0014c0013t0010	a0014c0013t0010g0224 a0014c0013t0010g0224	1	182	0.0055	30	c.87+ others(45): Show c.87+1146_87+1147insTATATATAGAGAGAGAGAGAGAGAGAGAGA		ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	3/27						chr15	TogoVar
ATP9A_chr20_51591514_51773390	51718814	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0134 a0001c0001t0012g0134	1	81	0.0123	30	c.328 others(47): Show c.328-5770_328-5741dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT		ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	3/27						chr20	TogoVar
ATP9B_chr18_79064394_79383283	79071399	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01952.hp1 NA19030.hp2 HG01071.hp2 HG01952.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0024 a0001c0001 a0001c0004 a0001c0024	a0001c0001t0001 a0001c0004t0003 a0001c0024t0004 a0001c0001t0001 a0001c0004t0003 a0001c0024t0004	a0001c0001t0001g0059 a0001c0004t0003g0060 a0001c0024t0004g0058 a0001c0001t0001g0059 a0001c0004t0003g0060 a0001c0024t0004g0058	3	4	0.7500	30	c.119 others(47): Show c.119+1884_119+1885insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT		ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	1/29					INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79224928	G G	GCGACCTG others(23): Show GCGACCTGTCTCCAGCAGCTCCCAGGAACCA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02055.hp2 HG02630.hp2 others(1): Show HG01952.hp2 HG02055.hp2 HG02630.hp2 HG02922.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0003 a0001c0004t0002 a0001c0004t0003	a0001c0004t0002g0091 a0001c0004t0002g0092 a0001c0004t0002g0093 others(1): Show a0001c0004t0002g0091 a0001c0004t0002g0092 a0001c0004t0002g0093 a0001c0004t0003g0094	4	296	0.0135	30	c.110 others(51): Show c.1107+10896_1107+10925dupTGTCTCCAGCAGCTCCCAGGAACC ACGACC		ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	11/29					INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79231803	T T	TATATATA others(23): Show TATATATATATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02970.hp2 HG02809.hp1 HG02970.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0006 a0001c0011t0006	a0001c0011t0006g0105 a0001c0011t0006g0107 a0001c0011t0006g0105 a0001c0011t0006g0107	2	28	0.0714	30	c.110 others(51): Show c.1107+17766_1107+17767insTATATATATATATATATATACACA CACACA		ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	11/29					INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79256257	C C	CCATATAT others(23): Show CCATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0003 a0003	a0003c0021 a0003c0021	a0003c0021t0004 a0003c0021t0004	a0003c0021t0004g0285 a0003c0021t0004g0285	1	96	0.0104	30	c.126 others(49): Show c.1268+2716_1268+2717insCATATATATATATATATATATATATA TATA		ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	12/29						chr18	TogoVar
ATP9B_chr18_79064394_79383283	79256286	T T	TATATATA others(23): Show TATATATATATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01069.hp1 HG01071.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0001 a0004c0008t0001g0001	2	259	0.0077	30	c.126 others(49): Show c.1268+2746_1268+2747insTATATATATATATATATATACACACA CACA		ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	12/29					INFO_REALIGN_3_PRIME	chr18	TogoVar
ATRNL1_chr10_115088365_115953999	115381432	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02280.hp2 NA19043.hp1 HG01952.hp2 HG02280.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0001t0025 a0001c0002t0001 a0001c0001t0008 a0001c0001t0025 a0001c0002t0001	a0001c0001t0008g0023 a0001c0001t0025g0020 a0001c0002t0001g0050 a0001c0001t0008g0023 a0001c0001t0025g0020 a0001c0002t0001g0050	3	36	0.0833	30	c.317 others(51): Show c.3176-13210_3176-13209insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT		ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	19/28					INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115442270	G G	GCTCTCTC others(23): Show GCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0033 a0001c0001t0010g0033	1	76	0.0132	30	c.332 others(51): Show c.3322+15973_3322+16002dupCTCTCTCTCTCTCTCTCTCTCTCT CTCTCT		ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	21/28					INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115442303	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0059 a0001c0001t0003g0059	1	85	0.0118	30	c.332 others(51): Show c.3322+16002_3322+16003insCTCTCTCTCTCTCTCTCTCTCTCT CTCTGT		ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	21/28					INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115442303	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTGTG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0047 a0001c0003t0047	a0001c0003t0047g0128 a0001c0003t0047g0128	1	85	0.0118	30	c.332 others(51): Show c.3322+16002_3322+16003insCTCTCTCTCTCTCTCTCTCTCTCT CTGTGT		ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	21/28					INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115621276	T T	TATATATA others(23): Show TATATATATAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0119 a0001c0001t0036g0119	1	80	0.0125	30	c.379 others(51): Show c.3795+71741_3795+71742insTATATATAGAGAGAGAGAGAGAGA GAGAGA		ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	26/28					INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115621276	T T	TATATATA others(23): Show TATATATATATAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0123 a0001c0001t0048g0123	1	80	0.0125	30	c.379 others(51): Show c.3795+71741_3795+71742insTATATATATAGAGAGAGAGAGAGA GAGAGA		ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	26/28					INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115632864	T T	TTTTTATT others(23): Show TTTTTATTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02015.hp1 HG02132.hp2 others(8): Show HG01943.hp2 HG02015.hp1 HG02132.hp2 HG02300.hp1 HG02523.hp1 HG03453.hp1 HG06807.hp1 NA18995.hp2 NA19003.hp1 NA19011.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0046 a0001c0010t0006	a0001c0001t0001g0053 a0001c0001t0001g0068 a0001c0001t0001g0069 others(8): Show a0001c0001t0001g0053 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0091 a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0003g0073 a0001c0001t0003g0095 a0001c0001t0006g0107 a0001c0001t0046g0106 a0001c0010t0006g0090	11	66	0.1667	30	c.379 others(51): Show c.3795+83343_3795+83372dupATTTTATTTTATTTTATTTTATTT TATTTT		ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	26/28					INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115871469	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0011 a0002c0008t0011	a0002c0008t0011g0072 a0002c0008t0011g0072	1	16	0.0625	30	c.401 others(51): Show c.4018+23479_4018+23480insATATATATATATATATATATATAT ATATAT		ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	28/28					INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRN_chr20_3466018_3656118	3512107	A A	ATATATAT others(23): Show ATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02615.hp2 HG02109.hp2 HG02615.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0157 a0002c0004t0004g0160 a0002c0004t0004g0157 a0002c0004t0004g0160	2	108	0.0185	30	c.411 others(49): Show c.411-23145_411-23144insATATATATATATATATATATATTTTT TTTT		ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	1/28					INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3512107	A A	ATATATAT others(23): Show ATATATATATATATATATATATTATATATTT	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0016 a0016	a0016c0032 a0016c0032	a0016c0032t0001 a0016c0032t0001	a0016c0032t0001g0195 a0016c0032t0001g0195	1	107	0.0093	30	c.411 others(49): Show c.411-23145_411-23144insATATATATATATATATATATTATATA TTTT		ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	1/28					INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3597071	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG01358.hp1 NA19043.hp2 HG01358.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0048 a0001c0001t0015g0005 a0001c0001t0001g0048 a0001c0001t0015g0005	2	53	0.0377	30	c.346 others(47): Show c.3469+645_3469+646insTATATATATATATATATATATATATAAA TA		ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	21/28					INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRX_chrX_77499880_77791216	77651217	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA19004.hp1 NA18966.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0089 a0001c0001t0002g0119 a0001c0001t0002g0089 a0001c0001t0002g0119	2	18	0.1111	30	c.455 others(47): Show c.4557+867_4557+896dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	15/34						chrX	TogoVar
ATRX_chrX_77499880_77791216	77790990	C C	CTATAAAT others(23): Show CTATAAATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG03453.hp2 HG03540.hp1 others(9): Show HG02615.hp1 HG03453.hp2 HG03540.hp1 NA18948.hp1 NA18970.hp1 NA18973.hp1 NA19003.hp1 NA19007.hp1 NA19080.hp1 NA19084.hp2 NA19240.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0003t0001 a0002c0002t0001	a0001c0001t0002g0140 a0001c0001t0002g0187 a0001c0001t0003g0150 others(9): Show a0001c0001t0002g0140 a0001c0001t0002g0187 a0001c0001t0003g0150 a0001c0001t0004g0185 a0001c0001t0004g0192 a0001c0001t0004g0194 a0001c0001t0006g0178 a0001c0001t0013g0191 a0001c0001t0014g0179 a0001c0001t0015g0081 a0001c0003t0001g0079 a0002c0002t0001g0022	12	96	0.1250	30	c.-49 others(41): Show c.-4990_-4989insTATATATATATATATATATATATATTTATA		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding					4775		chrX	TogoVar
ATXN10_chr22_45666834_45850307	45706698	G G	GTTTATTT others(23): Show GTTTATTTTCTAAATGTCCTTTTGTTATGGT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02258.hp2 HG02615.hp2 others(2): Show HG01884.hp2 HG02258.hp2 HG02615.hp2 HG02647.hp1 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0018 a0001c0001t0001 a0001c0001t0006 a0001c0001t0018	a0001c0001t0001g0069 a0001c0001t0006g0087 a0001c0001t0006g0119 others(2): Show a0001c0001t0001g0069 a0001c0001t0006g0087 a0001c0001t0006g0119 a0001c0001t0006g0120 a0001c0001t0018g0118	5	314	0.0159	30	c.647 others(47): Show c.647+3854_647+3855insATTTTCTAAATGTCCTTTTGTTATGGTT TT		ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	5/11					INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN10_chr22_45666834_45850307	45795415	A A	ATTCTATT others(23): Show ATTCTATTCTATTCTATTCTATTCTATTGTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 NA18988.hp1 NA19057.hp1 HG00140.hp2 NA18988.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0093 a0001c0001t0002g0106 a0001c0001t0002g0046 a0001c0001t0002g0093 a0001c0001t0002g0106	3	288	0.0104	30	c.117 others(51): Show c.1174-11535_1174-11534insATTCTATTCTATTCTATTGTTTTC TATTCT		ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN1_chr6_16294112_16766460	16440648	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0032 a0001c0032	a0001c0032t0018 a0001c0032t0018	a0001c0032t0018g0059 a0001c0032t0018g0059	1	110	0.0091	30	c.-16 others(51): Show c.-161+45323_-161+45324insCTTTCTTTCTTTTTTTTTTTTTTT TTTTTT		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16562453	A A	AAGGAAAG others(23): Show AAGGAAAGGAAACGAAAGGAGAGGAGAGGAG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00597.hp1 others(11): Show HG00408.hp1 HG00438.hp2 HG00597.hp1 HG02056.hp2 HG02132.hp2 HG02523.hp1 HG02602.hp1 HG02615.hp2 HG02886.hp1 HG03492.hp2 NA18951.hp2 NA18957.hp1 NA18993.hp1 NA19009.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0012 a0002c0003 others(5): Show a0001c0001 a0001c0012 a0002c0003 a0003c0002 a0003c0009 a0003c0013 a0004c0005 a0004c0027	a0001c0001t0010 a0001c0012t0006 a0002c0003t0037 others(7): Show a0001c0001t0010 a0001c0012t0006 a0002c0003t0037 a0003c0002t0002 a0003c0002t0008 a0003c0009t0001 a0003c0013t0007 a0004c0005t0002 a0004c0005t0032 a0004c0027t0001	a0001c0001t0010g0128 a0001c0012t0006g0008 a0002c0003t0037g0150 others(11): Show a0001c0001t0010g0128 a0001c0012t0006g0008 a0002c0003t0037g0150 a0003c0002t0002g0090 a0003c0002t0008g0081 a0003c0002t0008g0140 a0003c0009t0001g0080 a0003c0009t0001g0174 a0003c0013t0007g0022 a0004c0005t0002g0072 a0004c0005t0002g0096 a0004c0005t0002g0160 a0004c0005t0032g0099 a0004c0027t0001g0064	14	88	0.1591	30	c.-36 others(51): Show c.-361+23326_-361+23327insCTCCTCTCCTCTCCTTTCGTTTCC TTTCCT		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	4/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16562453	A A	AAGGAAAG others(23): Show AAGGAAAGGAAAGGAAAGGAAAGGAGAGGAG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02055.hp1 HG02809.hp2 HG01261.hp2 HG02055.hp1 HG02809.hp2	a0001 a0003 a0001 a0003	a0001c0008 a0003c0002 a0001c0008 a0003c0002	a0001c0008t0001 a0003c0002t0001 a0003c0002t0003 a0001c0008t0001 a0003c0002t0001 a0003c0002t0003	a0001c0008t0001g0009 a0003c0002t0001g0071 a0003c0002t0003g0061 a0001c0008t0001g0009 a0003c0002t0001g0071 a0003c0002t0003g0061	3	77	0.0390	30	c.-36 others(51): Show c.-361+23326_-361+23327insCTCCTCTCCTTTCCTTTCCTTTCC TTTCCT		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	4/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16606867	T T	TTGTGTGT others(23): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01346.hp1 HG02056.hp2 others(22): Show HG00609.hp2 HG01346.hp1 HG02056.hp2 HG02486.hp2 HG02523.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03834.hp1 HG04184.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18944.hp1 NA18944.hp2 NA18972.hp1 NA18973.hp1 NA19060.hp2 NA20300.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0008 a0001c0012 others(7): Show a0001c0001 a0001c0008 a0001c0012 a0002c0003 a0002c0004 a0003c0002 a0003c0009 a0003c0036 a0004c0006 a0005c0007	a0001c0001t0001 a0001c0001t0010 a0001c0008t0040 others(15): Show a0001c0001t0001 a0001c0001t0010 a0001c0008t0040 a0001c0012t0006 a0002c0003t0001 a0002c0003t0009 a0002c0003t0031 a0002c0004t0002 a0002c0004t0003 a0002c0004t0049 a0003c0002t0003 a0003c0002t0008 a0003c0002t0009 a0003c0002t0010 a0003c0009t0001 a0003c0036t0004 a0004c0006t0002 a0005c0007t0005	a0001c0001t0001g0178 a0001c0001t0010g0128 a0001c0008t0040g0154 others(22): Show a0001c0001t0001g0178 a0001c0001t0010g0128 a0001c0008t0040g0154 a0001c0012t0006g0014 a0002c0003t0001g0042 a0002c0003t0001g0130 a0002c0003t0009g0055 a0002c0003t0031g0058 a0002c0004t0002g0056 a0002c0004t0002g0126 a0002c0004t0003g0070 a0002c0004t0003g0166 a0002c0004t0049g0005 a0003c0002t0003g0007 a0003c0002t0003g0061 a0003c0002t0008g0063 a0003c0002t0008g0081 a0003c0002t0008g0138 a0003c0002t0009g0094 a0003c0002t0010g0015 a0003c0009t0001g0080 a0003c0036t0004g0067 a0004c0006t0002g0169 a0004c0006t0002g0172 a0005c0007t0005g0100	25	66	0.3788	30	c.-48 others(51): Show c.-488-20961_-488-20960insCACACACACACACACACACACACA CACACA		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	3/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16730487	G G	GTGTATAT others(23): Show GTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0007 a0003c0002t0007	a0003c0002t0007g0136 a0003c0002t0007g0136	1	45	0.0222	30	c.-61 others(51): Show c.-615+22745_-615+22746insTATATATATATATATATATATATA TATACA		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	2/7						chr6	TogoVar
ATXN2_chr12_111447214_111604315	111576137	T T	TAACATAA others(23): Show TAACATAACATAACATAACATAACATCACAC	intron_variant intron_variant	MODIFIER	HG03239.hp1 NA18950.hp1 HG03239.hp1 NA18950.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0052 a0002c0002t0001g0089 a0002c0002t0001g0052 a0002c0002t0001g0089	2	153	0.0131	30	c.252 others(49): Show c.252-20219_252-20218insGTGTGATGTTATGTTATGTTATGTTA TGTT		ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/24						chr12	TogoVar
ATXN2_chr12_111447214_111604315	111588991	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0081 a0002c0002t0001g0081	1	24	0.0417	30	c.251 others(47): Show c.251+9763_251+9792dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT		ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/24						chr12	TogoVar
ATXN3_chr14_92053552_92111582	92071009	C C	CGCTGCTG others(23): Show CGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03139.hp2 NA18906.hp2 HG03139.hp2 NA18906.hp2	a0032 a0032	a0032c0038 a0032c0038	a0032c0038t0001 a0032c0038t0001	a0032c0038t0001g0168 a0032c0038t0001g0169 a0032c0038t0001g0168 a0032c0038t0001g0169	2	287	0.0070	30	c.916 others(37): Show c.916_917insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	p.Gly others(42): Show p.Gly306delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	10/11	946/6884	916/1086	306/361			chr14	TogoVar
ATXN3_chr14_92053552_92111582	92071010	C C	CCTGCTGC others(23): Show CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00280.hp2 HG01261.hp2 HG02300.hp1 others(17): Show HG00280.hp2 HG01261.hp2 HG02300.hp1 HG02300.hp2 HG02809.hp1 HG02970.hp2 HG03486.hp1 HG03579.hp2 NA18939.hp2 NA18941.hp2 NA18950.hp2 NA18959.hp1 NA18971.hp2 NA18978.hp2 NA18993.hp1 NA19066.hp2 NA19080.hp2 NA19091.hp1 NA20129.hp2 NA20300.hp2	a0005 a0005	a0005c0006 a0005c0018 a0005c0006 a0005c0018	a0005c0006t0004 a0005c0006t0019 a0005c0006t0051 others(2): Show a0005c0006t0004 a0005c0006t0019 a0005c0006t0051 a0005c0006t0075 a0005c0018t0003	a0005c0006t0004g0278 a0005c0006t0004g0322 a0005c0006t0004g0323 others(16): Show a0005c0006t0004g0278 a0005c0006t0004g0322 a0005c0006t0004g0323 a0005c0006t0004g0324 a0005c0006t0004g0330 a0005c0006t0004g0331 a0005c0006t0004g0334 a0005c0006t0004g0335 a0005c0006t0004g0356 a0005c0006t0019g0007 a0005c0006t0019g0193 a0005c0006t0019g0195 a0005c0006t0051g0352 a0005c0006t0075g0194 a0005c0018t0003g0145 a0005c0018t0003g0179 a0005c0018t0003g0183 a0005c0018t0003g0206 a0005c0018t0003g0350	20	121	0.1653	30	c.915 others(37): Show c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	p.Gln others(43): Show p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGln	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	10/11	945/6884	915/1086	305/361			chr14	TogoVar
ATXN7L1_chr7_105599772_105881599	105731748	A A	AAAAAGAA others(23): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0154 a0001c0001t0045g0154	1	52	0.0192	30	c.355 others(49): Show c.355+56826_355+56855dupCTTTTCTTTTCTTTTCTTTTCTTTTC TTTT		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11						chr7	TogoVar
AURKB_chr17_8199734_8215575	8214607	T T	TATATATA others(23): Show TATATATATATATATATATACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02717.hp2 HG03471.hp1 others(1): Show HG02630.hp1 HG02717.hp2 HG03471.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0012 others(1): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0015	4	216	0.0185	30	c.-41 others(41): Show c.-4104_-4103insGTGTGTGTGTGTATATATATATATATATAT		AURKB	ENSG00000178999.13	transcript	ENST00000585124.6	protein_coding					4033		chr17	TogoVar

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