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
ATG10_chr5_81967023_82261133	81993359	C C	CTTTCTTT others(28): Show CTTTCTTTCTTTCCTTCTTTCTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG03239.hp2 NA20752.hp2 HG00280.hp1 HG03239.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0017 a0001c0001t0005 a0001c0001t0017	a0001c0001t0005g0014 a0001c0001t0005g0015 a0001c0001t0017g0027 a0001c0001t0005g0014 a0001c0001t0005g0015 a0001c0001t0017g0027	3	151	0.0199	35	c.108 others(52): Show c.108+5681_108+5682insTTTCTTTCTTTCCTTCTTTCTTTCTTTT CTTTTCT	ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	2/7			chr5	TogoVar
ATG10_chr5_81967023_82261133	81993359	C C	CTTTCTTT others(28): Show CTTTCTTTCTTTCTTTCCTTCTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0151 a0001c0001t0009g0151	1	149	0.0067	35	c.108 others(52): Show c.108+5681_108+5682insTTTCTTTCTTTCTTTCCTTCTTTCTTTT CTTTTCT	ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	2/7			chr5	TogoVar
ATG10_chr5_81967023_82261133	81993359	C C	CTTTCTTT others(28): Show CTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0074 a0002c0002t0008g0074	1	149	0.0067	35	c.108 others(52): Show c.108+5681_108+5682insTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCT	ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	2/7			chr5	TogoVar
ATG10_chr5_81967023_82261133	82118400	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01993.hp1 HG06807.hp2 others(1): Show HG01169.hp1 HG01993.hp1 HG06807.hp2 NA19003.hp2	a0003 a0004 a0003 a0004	a0003c0003 a0004c0004 a0003c0003 a0004c0004	a0003c0003t0001 a0004c0004t0002 a0003c0003t0001 a0004c0004t0002	a0003c0003t0001g0171 a0003c0003t0001g0202 a0004c0004t0002g0181 others(1): Show a0003c0003t0001g0171 a0003c0003t0001g0202 a0004c0004t0002g0181 a0004c0004t0002g0183	4	189	0.0212	35	c.217 others(54): Show c.217-45994_217-45993insATATATATATATATATATATATATAT ATATTATAT	ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
ATG4C_chr1_62779132_62870516	62858587	A A	ATCAATGA others(28): Show ATCAATGAAGGAGGAGATAGAGAAGAAATCGTTCAG	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0276 a0001c0001t0001g0276	1	320	0.0031	35	c.121 others(54): Show c.1210-5404_1210-5370dupTCAATGAAGGAGGAGATAGAGAAGAA ATCGTTCAG	ATG4C	ENSG00000125703.15	transcript	ENST00000317868.9	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
ATL2_chr2_38288954_38382273	38329423	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0054	1	74	0.0135	35	c.364 others(54): Show c.364-10405_364-10404insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	ATL2	ENSG00000119787.14	transcript	ENST00000378954.9	protein_coding	2/12			chr2	TogoVar
ATL2_chr2_38288954_38382273	38337486	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0092 a0001c0001t0002g0092	1	28	0.0357	35	c.363 others(52): Show c.363+5781_363+5782insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	ATL2	ENSG00000119787.14	transcript	ENST00000378954.9	protein_coding	2/12			chr2	TogoVar
ATOSA_chr15_52576321_52684388	52679772	T T	TCCTCCTC others(28): Show TCCTCCTCCTCCTCCCCCCCTCCCCCTCCTTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp1 HG02145.hp1 HG02155.hp1 others(2): Show HG01993.hp1 HG02145.hp1 HG02155.hp1 HG03942.hp1 NA19074.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0001 a0002c0002t0001 a0001c0003t0001 a0002c0002t0001	a0001c0003t0001g0008 a0001c0003t0001g0152 a0001c0003t0001g0163 others(2): Show a0001c0003t0001g0008 a0001c0003t0001g0152 a0001c0003t0001g0163 a0001c0003t0001g0169 a0002c0002t0001g0268	5	303	0.0165	35	c.-10 others(46): Show c.-1047_-1046insGGGGGAAGGAGGGGGAGGGGGGGAGGAGGAGGAG G	ATOSA	ENSG00000047346.13	transcript	ENST00000619572.5	protein_coding		385		chr15	TogoVar
ATOSA_chr15_52576321_52684388	52679772	T T	TCCTCCTC others(28): Show TCCTCCTCCTCCTCCCCCCTCCCCCTCCTTCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18991.hp2 NA19006.hp1 NA18991.hp2 NA19006.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0143 a0001c0003t0001g0151 a0001c0003t0001g0143 a0001c0003t0001g0151	2	300	0.0067	35	c.-10 others(46): Show c.-1047_-1046insGGGGGGAAGGAGGGGGAGGGGGGAGGAGGAGGAG G	ATOSA	ENSG00000047346.13	transcript	ENST00000619572.5	protein_coding		385		chr15	TogoVar
ATOSA_chr15_52576321_52684388	52679772	T T	TCCTCCTC others(28): Show TCCTCCTCCTCCTCCTCCCCTCCCCCTCCTTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0010 a0010	a0010c0017 a0010c0017	a0010c0017t0001 a0010c0017t0001	a0010c0017t0001g0139 a0010c0017t0001g0139	1	299	0.0033	35	c.-10 others(46): Show c.-1047_-1046insGGGGGAAGGAGGGGGAGGGGAGGAGGAGGAGGAG G	ATOSA	ENSG00000047346.13	transcript	ENST00000619572.5	protein_coding		385		chr15	TogoVar
ATP11A_chr13_112685038_112892168	112746333	A A	ACCGGGTA others(28): Show ACCGGGTAACTGGGGTTCCGGCTCCCCACGTCCTCC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00597.hp1 HG00621.hp2 others(60): Show HG00280.hp2 HG00597.hp1 HG00621.hp2 HG00642.hp1 HG00733.hp1 HG00738.hp2 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01099.hp1 HG01109.hp1 HG01123.hp2 HG01243.hp2 HG01255.hp2 HG01261.hp1 HG01496.hp2 HG01891.hp2 HG02109.hp1 HG02148.hp1 HG02451.hp2 HG02572.hp2 HG02622.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03486.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03688.hp1 HG03704.hp1 HG03942.hp2 HG04184.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18971.hp1 NA19002.hp1 NA19043.hp1 NA19043.hp2 NA19077.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20805.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0008 a0010 a0011 a0012 a0013	a0001c0001 a0001c0002 a0001c0004 others(23): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0009 a0001c0017 a0001c0019 a0001c0020 a0001c0021 a0001c0029 a0001c0042 a0001c0044 a0001c0046 a0002c0003 a0002c0010 a0002c0048 a0003c0008 a0003c0012 a0004c0027 a0005c0018 a0008c0023 a0010c0037 a0011c0041 a0012c0043 a0013c0033	a0001c0001t0001 a0001c0001t0002 a0001c0001t0021 others(39): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0021 a0001c0001t0062 a0001c0002t0001 a0001c0002t0008 a0001c0002t0013 a0001c0002t0014 a0001c0002t0015 a0001c0002t0034 a0001c0004t0003 a0001c0004t0006 a0001c0004t0044 a0001c0004t0052 a0001c0005t0020 a0001c0006t0001 a0001c0006t0004 a0001c0009t0003 a0001c0009t0075 a0001c0017t0060 a0001c0017t0076 a0001c0019t0008 a0001c0019t0015 a0001c0020t0070 a0001c0021t0024 a0001c0029t0053 a0001c0042t0046 a0001c0044t0047 a0001c0046t0016 a0002c0003t0001 a0002c0003t0002 a0002c0010t0022 a0002c0048t0008 a0003c0008t0001 a0003c0012t0005 a0004c0027t0074 a0005c0018t0001 a0008c0023t0002 a0010c0037t0001 a0011c0041t0001 a0012c0043t0001 a0013c0033t0001	a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0071 others(60): Show a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0109 a0001c0001t0001g0122 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0002g0050 a0001c0001t0021g0240 a0001c0001t0062g0138 a0001c0002t0001g0032 a0001c0002t0001g0167 a0001c0002t0008g0066 a0001c0002t0013g0112 a0001c0002t0013g0211 a0001c0002t0014g0197 a0001c0002t0015g0054 a0001c0002t0034g0179 a0001c0004t0003g0034 a0001c0004t0003g0049 a0001c0004t0003g0079 a0001c0004t0003g0149 a0001c0004t0003g0250 a0001c0004t0003g0251 a0001c0004t0006g0058 a0001c0004t0006g0061 a0001c0004t0044g0057 a0001c0004t0052g0033 a0001c0005t0020g0144 a0001c0006t0001g0070 a0001c0006t0001g0077 a0001c0006t0004g0036 a0001c0006t0004g0115 a0001c0009t0003g0218 a0001c0009t0075g0153 a0001c0017t0060g0053 a0001c0017t0076g0154 a0001c0019t0008g0051 a0001c0019t0015g0147 a0001c0020t0070g0055 a0001c0021t0024g0047 a0001c0021t0024g0048 a0001c0029t0053g0046 a0001c0042t0046g0148 a0001c0044t0047g0134 a0001c0046t0016g0062 a0002c0003t0001g0059 a0002c0003t0001g0137 a0002c0003t0002g0027 a0002c0003t0002g0073 a0002c0003t0002g0074 a0002c0010t0022g0072 a0002c0048t0008g0165 a0003c0008t0001g0170 a0003c0012t0005g0207 a0004c0027t0074g0155 a0005c0018t0001g0009 a0005c0018t0001g0168 a0008c0023t0002g0064 a0010c0037t0001g0076 a0011c0041t0001g0169 a0012c0043t0001g0069 a0013c0033t0001g0166	63	252	0.2500	35	c.40- others(52): Show c.40-38781_40-38747dupCTCCCCACGTCCTCCCCGGGTAACTGGG GTTCCGG	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11C_chrX_139721348_139938053	139768861	T T	TGCAGTAG others(28): Show TGCAGTAGCCTTAGCTACTTCCTGAGACTTCCTAAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01074.hp1 HG00099.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0070 a0001c0001t0001g0063 a0001c0001t0001g0070	2	231	0.0087	35	c.221 others(52): Show c.2217-462_2217-428dupCTTAGGAAGTCTCAGGAAGTAGCTAAGG CTACTGC	ATP11C	ENSG00000101974.15	transcript	ENST00000682941.1	protein_coding	19/29			chrX	TogoVar
ATP12A_chr13_24675408_24717472	24708900	G G	GAAAGAAA others(28): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	205	0.0049	35	c.249 others(52): Show c.2494-464_2494-463insAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAA	ATP12A	ENSG00000075673.12	transcript	ENST00000381946.5	protein_coding	17/22			chr13	TogoVar
ATP2C1_chr3_130889084_131008150	130903700	C C	CCCTTTCC others(28): Show CCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02717.hp2 HG01243.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0090 a0001c0001t0001g0085 a0001c0001t0001g0090	2	110	0.0182	35	c.6+8 others(48): Show c.6+8928_6+8962dupTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCC	ATP2C1	ENSG00000017260.20	transcript	ENST00000510168.6	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATP5F1D_chr19_1236751_1249825	1246411	T T	TGGTGTCC others(28): Show TGGTGTCCATTCCACTCCCGACCAGACTGAGGTGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	91	0.0110	35	c.19 others(46): Show c.1974_*1975insGGTGTCCATTCCACTCCCGACCAGACTGAGGTGA C	ATP5F1D	ENSG00000099624.8	transcript	ENST00000215375.7	protein_coding		1587		chr19	TogoVar
ATP5MC1_chr17_48887787_48900871	48890144	A A	AAAAAGAA others(28): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02738.hp2 HG02896.hp1 others(1): Show HG02109.hp2 HG02738.hp2 HG02896.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0007 a0001c0001t0003g0005 a0001c0001t0002g0007 a0001c0001t0003g0005	4	156	0.0256	35	c.-27 others(46): Show c.-2776_-2775insAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA G	ATP5MC1	ENSG00000159199.14	transcript	ENST00000393366.7	protein_coding		2642		chr17	TogoVar
ATP5MC2_chr12_53660170_53681083	53672083	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA19062.hp1 HG03516.hp2 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	2	69	0.0290	35	c.39+ others(48): Show c.39+492_39+493insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	ATP5MC2	ENSG00000135390.21	transcript	ENST00000394349.9	protein_coding	2/4			chr12	TogoVar
ATP5MGL_chr22_42634803_42645601	42638728	T T	TAAAAAAA others(28): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	61	0.0164	35	c.12 others(46): Show c.1243_*1244insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	ATP5MGL	ENSG00000249222.1	transcript	ENST00000505920.1	protein_coding		1074		chr22	TogoVar
ATP5PO_chr21_33898453_33920804	33902332	A A	AGCCTCAG others(28): Show AGCCTCAGCACTCCTGGTTCCTGGAAAGGTTGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 NA18942.hp2 NA18944.hp1 others(9): Show HG02015.hp1 NA18942.hp2 NA18944.hp1 NA18965.hp1 NA18966.hp2 NA18985.hp2 NA19009.hp2 NA19055.hp1 NA19056.hp1 NA19074.hp1 NA19078.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0137 a0001c0001t0001g0138 others(1): Show a0001c0001t0001g0010 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139	12	431	0.0278	35	c.11 others(46): Show c.1193_*1194insCCCTCAACCTTTCCAGGAACCAGGAGTGCTGAGG C	ATP5PO	ENSG00000241837.7	transcript	ENST00000290299.7	protein_coding		1120		chr21	TogoVar
ATP6V0A4_chr7_138701294_138803196	138718153	G G	GTGTGTGT others(28): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0354 a0003c0004t0002g0354	1	374	0.0027	35	c.214 others(54): Show c.2140-2273_2140-2272insACACACACACACACACACACACACAC ACACACACA	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	19/21			chr7	TogoVar
ATP6V0A4_chr7_138701294_138803196	138737113	T T	TATATATA others(28): Show TATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG01070.hp2 others(21): Show HG00408.hp1 HG00438.hp1 HG01070.hp2 HG01071.hp2 HG01261.hp2 HG01346.hp2 HG01943.hp1 HG02056.hp2 HG02132.hp2 HG02280.hp1 HG02572.hp1 HG03927.hp2 NA18942.hp1 NA18971.hp1 NA18973.hp1 NA18982.hp1 NA18999.hp1 NA18999.hp2 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19085.hp1 NA19091.hp1 NA20300.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0012	a0001c0001 a0002c0002 a0002c0003 others(3): Show a0001c0001 a0002c0002 a0002c0003 a0002c0012 a0006c0009 a0012c0047	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0003t0002 a0002c0012t0001 a0006c0009t0001 a0012c0047t0001	a0001c0001t0001g0087 a0001c0001t0001g0136 a0001c0001t0001g0144 others(21): Show a0001c0001t0001g0087 a0001c0001t0001g0136 a0001c0001t0001g0144 a0001c0001t0001g0157 a0001c0001t0001g0176 a0001c0001t0001g0192 a0001c0001t0001g0221 a0001c0001t0001g0265 a0001c0001t0001g0316 a0001c0001t0001g0334 a0001c0001t0002g0331 a0002c0002t0001g0115 a0002c0002t0001g0138 a0002c0002t0001g0139 a0002c0002t0001g0193 a0002c0002t0001g0271 a0002c0002t0001g0275 a0002c0002t0001g0305 a0002c0002t0001g0342 a0002c0003t0002g0065 a0002c0012t0001g0083 a0006c0009t0001g0201 a0006c0009t0001g0258 a0012c0047t0001g0257	24	187	0.1283	35	c.157 others(54): Show c.1572+2426_1572+2427insTATATATATATATATATATATATATA TATATATAT	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	15/21			chr7	TogoVar
ATP6V0E1_chr5_172978771_173040445	172979097	G G	GCCCCCCC others(28): Show GCCCCCCCCCCCCCCCCCCCGCAGGAAGGGGGAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	228	0.0044	35	c.-47 others(46): Show c.-4764_-4763insCCCCCCCCCCCCCCCCCCCGCAGGAAGGGGGAAG A	ATP6V0E1	ENSG00000113732.9	transcript	ENST00000519374.6	protein_coding		4673		chr5	TogoVar
ATP8B1_chr18_57641426_57808315	57680277	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0160 a0001c0001t0012g0160	1	14	0.0714	35	c.163 others(54): Show c.1630+3758_1630+3759insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	15/27			chr18	TogoVar
ATP8B4_chr15_49853238_50124233	50086449	A A	AATATAGA others(28): Show AATATAGAGATCTATATTTAATTATATATAATAAAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00639.hp1 HG02109.hp1 others(7): Show HG00323.hp1 HG00639.hp1 HG02109.hp1 HG02486.hp1 HG02602.hp2 HG02717.hp2 HG03471.hp2 HG03654.hp1 HG04228.hp1 NA19030.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0013	a0001c0001 a0002c0002 a0004c0010 others(2): Show a0001c0001 a0002c0002 a0004c0010 a0005c0005 a0013c0015	a0001c0001t0001 a0001c0001t0006 a0001c0001t0013 others(5): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0013 a0001c0001t0030 a0002c0002t0001 a0004c0010t0005 a0005c0005t0001 a0013c0015t0027	a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0006g0155 others(7): Show a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0006g0155 a0001c0001t0013g0101 a0001c0001t0030g0149 a0002c0002t0001g0150 a0002c0002t0001g0154 a0004c0010t0005g0151 a0005c0005t0001g0092 a0013c0015t0027g0153	10	193	0.0518	35	c.29- others(52): Show c.29-12265_29-12264insATTTATTATATATAATTAAATATAGATC TCTATAT	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	2/27			chr15	TogoVar
ATP9A_chr20_51591514_51773390	51642726	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0150 a0001c0004t0005g0150	1	222	0.0045	35	c.150 others(54): Show c.1507-3257_1507-3223dupTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	14/27			chr20	TogoVar
ATP9B_chr18_79064394_79383283	79071399	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0073 a0001c0004t0003g0073	1	2	0.5000	35	c.119 others(52): Show c.119+1884_119+1885insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79308711	G G	GAGGACTG others(28): Show GAGGACTGATCCCCAGCAGGTAGAAGGTCAGGGGCT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02723.hp1 HG03130.hp2 HG01243.hp2 HG02723.hp1 HG03130.hp2	a0002 a0005 a0002 a0005	a0002c0032 a0005c0009 a0002c0032 a0005c0009	a0002c0032t0005 a0005c0009t0005 a0002c0032t0005 a0005c0009t0005	a0002c0032t0005g0189 a0005c0009t0005g0165 a0005c0009t0005g0166 a0002c0032t0005g0189 a0005c0009t0005g0165 a0005c0009t0005g0166	3	15	0.2000	35	c.177 others(54): Show c.1773+1477_1773+1478insAGGACTGATCCCCAGCAGGTAGAAGG TCAGGGGCT	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29			chr18	TogoVar
ATP9B_chr18_79064394_79383283	79308999	G G	GAGTAGTG others(28): Show GAGTAGTGATCCTCCGCAGGTAGAAGGTCAGGGGCT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01496.hp2 HG02886.hp1 HG00099.hp2 HG01496.hp2 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0019 a0001c0001t0001g0090 a0001c0001t0002g0079 a0001c0001t0001g0019 a0001c0001t0001g0090 a0001c0001t0002g0079	3	56	0.0536	35	c.177 others(54): Show c.1773+1765_1773+1766insAGTAGTGATCCTCCGCAGGTAGAAGG TCAGGGGCT	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29			chr18	TogoVar
ATP9B_chr18_79064394_79383283	79309071	G G	GAGTAGTG others(28): Show GAGTAGTGATCCTCCGCAGGTAGAAGGTCAGGGGCT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	166	0.0060	35	c.177 others(54): Show c.1773+1837_1773+1838insAGTAGTGATCCTCCGCAGGTAGAAGG TCAGGGGCT	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29			chr18	TogoVar
ATP9B_chr18_79064394_79383283	79309107	G G	GAGTAGTG others(28): Show GAGTAGTGATCCTCCGCAGGTAGAAGGTCAGGGGCT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03471.hp2 HG01891.hp1 HG03471.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0004 a0001c0010t0004	a0001c0010t0004g0295 a0001c0010t0004g0296 a0001c0010t0004g0295 a0001c0010t0004g0296	2	125	0.0160	35	c.177 others(54): Show c.1773+1873_1773+1874insAGTAGTGATCCTCCGCAGGTAGAAGG TCAGGGGCT	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29			chr18	TogoVar
ATRNL1_chr10_115088365_115953999	115381432	A A	ATTTTTTT others(28): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01258.hp2 HG01515.hp1 others(1): Show HG01071.hp1 HG01258.hp2 HG01515.hp1 HG02895.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0005 a0001c0002t0001 a0001c0002t0005	a0001c0002t0001g0046 a0001c0002t0001g0048 a0001c0002t0005g0036 others(1): Show a0001c0002t0001g0046 a0001c0002t0001g0048 a0001c0002t0005g0036 a0001c0002t0005g0042	4	37	0.1081	35	c.317 others(56): Show c.3176-13210_3176-13209insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	19/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115632864	T T	TTTTTATT others(28): Show TTTTTATTTTATTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	56	0.0179	35	c.379 others(56): Show c.3795+83338_3795+83372dupATTTTATTTTATTTTATTTTATTT TATTTTATTTT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	26/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRN_chr20_3466018_3656118	3613685	T T	TAGATTTT others(28): Show TAGATTTTAAAAATTGAGATTCTCCTTTTTTAAATG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00438.hp1 others(138): Show HG00099.hp1 HG00323.hp1 HG00438.hp1 HG00438.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01891.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp2 HG02055.hp2 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02738.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18966.hp1 NA18966.hp2 NA18985.hp1 NA18985.hp2 NA18994.hp1 NA18994.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19075.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19086.hp1 NA19086.hp2 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1	a0001 a0002 a0004 others(8): Show a0001 a0002 a0004 a0006 a0008 a0009 a0010 a0011 a0014 a0015 a0017	a0001c0001 a0001c0002 a0001c0003 others(16): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0007 a0001c0013 a0001c0014 a0002c0004 a0002c0012 a0004c0011 a0006c0015 a0006c0027 a0008c0020 a0009c0030 a0010c0024 a0011c0028 a0014c0022 a0015c0026 a0017c0029	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(37): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0030 a0001c0002t0003 a0001c0002t0006 a0001c0002t0008 a0001c0002t0017 a0001c0002t0020 a0001c0002t0021 a0001c0002t0022 a0001c0002t0025 a0001c0002t0032 a0001c0003t0002 a0001c0003t0010 a0001c0003t0035 a0001c0006t0003 a0001c0006t0020 a0001c0007t0003 a0001c0007t0006 a0001c0013t0008 a0001c0013t0017 a0001c0013t0026 a0001c0014t0002 a0002c0004t0011 a0002c0012t0012 a0004c0011t0008 a0006c0015t0024 a0006c0027t0014 a0008c0020t0014 a0009c0030t0011 a0010c0024t0003 a0011c0028t0001 a0014c0022t0004 a0015c0026t0001 a0017c0029t0002	a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0014 others(138): Show a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0066 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0163 a0001c0001t0001g0172 a0001c0001t0002g0002 a0001c0001t0002g0012 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0059 a0001c0001t0002g0065 a0001c0001t0002g0077 a0001c0001t0002g0086 a0001c0001t0002g0102 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0144 a0001c0001t0002g0148 a0001c0001t0009g0022 a0001c0001t0009g0046 a0001c0001t0009g0047 a0001c0001t0009g0100 a0001c0001t0009g0101 a0001c0001t0009g0103 a0001c0001t0009g0104 a0001c0001t0010g0011 a0001c0001t0010g0025 a0001c0001t0010g0096 a0001c0001t0010g0145 a0001c0001t0012g0115 a0001c0001t0012g0133 a0001c0001t0014g0010 a0001c0001t0015g0005 a0001c0001t0030g0143 a0001c0002t0003g0023 a0001c0002t0003g0033 a0001c0002t0003g0036 a0001c0002t0003g0037 a0001c0002t0003g0038 a0001c0002t0003g0045 a0001c0002t0003g0062 a0001c0002t0003g0063 a0001c0002t0003g0075 a0001c0002t0003g0076 a0001c0002t0003g0078 a0001c0002t0003g0083 a0001c0002t0003g0084 a0001c0002t0003g0085 a0001c0002t0003g0089 a0001c0002t0003g0135 a0001c0002t0003g0146 a0001c0002t0003g0147 a0001c0002t0003g0176 a0001c0002t0003g0219 a0001c0002t0003g0220 a0001c0002t0006g0018 a0001c0002t0006g0049 a0001c0002t0006g0050 a0001c0002t0006g0051 a0001c0002t0006g0052 a0001c0002t0006g0053 a0001c0002t0006g0067 a0001c0002t0006g0069 a0001c0002t0006g0074 a0001c0002t0006g0099 a0001c0002t0006g0164 a0001c0002t0008g0034 a0001c0002t0008g0132 a0001c0002t0008g0142 a0001c0002t0017g0079 a0001c0002t0020g0098 a0001c0002t0021g0004 a0001c0002t0022g0024 a0001c0002t0025g0090 a0001c0002t0032g0032 a0001c0003t0002g0214 a0001c0003t0002g0215 a0001c0003t0002g0216 a0001c0003t0002g0217 a0001c0003t0010g0206 a0001c0003t0035g0205 a0001c0006t0003g0211 a0001c0006t0003g0212 a0001c0006t0020g0180 a0001c0007t0003g0185 a0001c0007t0003g0193 a0001c0007t0006g0201 a0001c0007t0006g0202 a0001c0007t0006g0203 a0001c0013t0008g0171 a0001c0013t0017g0149 a0001c0013t0026g0169 a0001c0014t0002g0170 a0001c0014t0002g0174 a0002c0004t0011g0150 a0002c0004t0011g0151 a0002c0004t0011g0152 a0002c0012t0012g0159 a0004c0011t0008g0168 a0004c0011t0008g0173 a0006c0015t0024g0137 a0006c0027t0014g0028 a0008c0020t0014g0209 a0009c0030t0011g0093 a0010c0024t0003g0054 a0011c0028t0001g0073 a0014c0022t0004g0009 a0015c0026t0001g0031 a0017c0029t0002g0122	141	197	0.7157	35	c.380 others(54): Show c.3801+9552_3801+9586dupCTTTTTTAAATGAGATTTTAAAAATT GAGATTCTC	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	24/28		INFO_REALIGN_3_PRIME	chr20	TogoVar
ATXN10_chr22_45666834_45850307	45795415	A A	ATTCTATT others(28): Show ATTCTATTCTATTCTATTCTATTCTATTCTATTGTT	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0110 a0001c0001t0002g0110	1	286	0.0035	35	c.117 others(56): Show c.1174-11535_1174-11534insATTCTATTCTATTCTATTCTATTG TTTTCTATTCT	ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN1_chr6_16294112_16766460	16562453	A A	AAGGAAAG others(28): Show AAGGAAAGGAAACGAAAGGAGAGGAGAGGAGAGGAG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03209.hp2 HG03927.hp1 HG02258.hp1 HG03209.hp2 HG03927.hp1	a0001 a0003 a0001 a0003	a0001c0010 a0003c0013 a0003c0035 a0001c0010 a0003c0013 a0003c0035	a0001c0010t0004 a0003c0013t0002 a0003c0035t0001 a0001c0010t0004 a0003c0013t0002 a0003c0035t0001	a0001c0010t0004g0050 a0003c0013t0002g0029 a0003c0035t0001g0115 a0001c0010t0004g0050 a0003c0013t0002g0029 a0003c0035t0001g0115	3	77	0.0390	35	c.-36 others(56): Show c.-361+23326_-361+23327insCTCCTCTCCTCTCCTCTCCTTTCG TTTCCTTTCCT	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	4/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16562453	A A	AAGGAAAG others(28): Show AAGGAAAGGAAAGGAGAGGAGAGGAGAGGAGAGGAG	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA20300.hp2 NA19240.hp2 NA20300.hp2	a0002 a0002	a0002c0004 a0002c0011 a0002c0004 a0002c0011	a0002c0004t0003 a0002c0011t0007 a0002c0004t0003 a0002c0011t0007	a0002c0004t0003g0070 a0002c0011t0007g0019 a0002c0004t0003g0070 a0002c0011t0007g0019	2	76	0.0263	35	c.-36 others(56): Show c.-361+23326_-361+23327insCTCCTCTCCTCTCCTCTCCTCTCC TTTCCTTTCCT	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	4/7			chr6	TogoVar
ATXN2_chr12_111447214_111604315	111576137	T T	TAACATAA others(28): Show TAACATAACATAACATAACATAACATAACATCACAC	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0048 a0002c0002t0001g0048	1	152	0.0066	35	c.252 others(54): Show c.252-20219_252-20218insGTGTGATGTTATGTTATGTTATGTTA TGTTATGTT	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/24			chr12	TogoVar
ATXN2_chr12_111447214_111604315	111602136	T T	TGTTTTAA others(28): Show TGTTTTAACTCACTACCATTGAATAAAAACTTAATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02809.hp2 HG02486.hp2 HG02809.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0022 a0003c0004t0003g0023 a0003c0004t0003g0022 a0003c0004t0003g0023	2	296	0.0068	35	c.-31 others(46): Show c.-3103_-3102insTATTAAGTTTTTATTCAATGGTAGTGAGTTAAAA C	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding		2822		chr12	TogoVar
ATXN7L1_chr7_105599772_105881599	105731748	A A	AAAAAGAA others(28): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG02630.hp2 HG03130.hp1 others(1): Show HG01168.hp1 HG02630.hp2 HG03130.hp1 HG03471.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0009 a0001c0001 a0002c0002 a0006c0009	a0001c0001t0002 a0001c0001t0014 a0002c0002t0026 others(1): Show a0001c0001t0002 a0001c0001t0014 a0002c0002t0026 a0006c0009t0001	a0001c0001t0002g0118 a0001c0001t0014g0069 a0002c0002t0026g0212 others(1): Show a0001c0001t0002g0118 a0001c0001t0014g0069 a0002c0002t0026g0212 a0006c0009t0001g0096	4	55	0.0727	35	c.355 others(54): Show c.355+56821_355+56855dupCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTT	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
AUTS2_chr7_69593475_70798506	69614367	T T	TCTTTCTT others(28): Show TCTTTCTTTCTTTTCTTTCTTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0039 a0001c0003t0008g0039	1	51	0.0196	35	c.309 others(54): Show c.309+14405_309+14406insCTTTCTTTCTTTTCTTTCTTTTCTTT CTTTCTTTC	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18			chr7	TogoVar
AUTS2_chr7_69593475_70798506	69614367	T T	TCTTTCTT others(28): Show TCTTTCTTTTCTTTCTTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02257.hp1 NA18952.hp1 HG00597.hp2 HG02257.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0045 a0001c0001t0002g0067 a0001c0001t0004g0048 a0001c0001t0002g0045 a0001c0001t0002g0067 a0001c0001t0004g0048	3	53	0.0566	35	c.309 others(54): Show c.309+14405_309+14406insCTTTCTTTTCTTTCTTTTCTTTCTTT CTTTCTTTC	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18			chr7	TogoVar
AUTS2_chr7_69593475_70798506	69614367	T T	TCTTTTCT others(28): Show TCTTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02622.hp2 HG01884.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0010 a0001c0001t0003 a0001c0001t0010	a0001c0001t0003g0061 a0001c0001t0010g0065 a0001c0001t0003g0061 a0001c0001t0010g0065	2	52	0.0385	35	c.309 others(54): Show c.309+14405_309+14406insCTTTTCTTTCTTTTCTTTCTTTCTTT CTTTCTTTC	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18			chr7	TogoVar
AUTS2_chr7_69593475_70798506	70011314	T T	TCTCTCCT others(28): Show TCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0039 a0001c0003t0008g0039	1	19	0.0526	35	c.523 others(56): Show c.523-106801_523-106767dupTCTCCTCTCCTCTCCTCTCCTCTC CTCTCCTCTCC	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70579244	T T	TAAAAAAA others(28): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0075 a0001c0001t0023g0075	1	8	0.1250	35	c.691 others(56): Show c.691-119307_691-119306insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	5/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70757903	G G	GCCTCCCG others(28): Show GCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02630.hp2 HG02886.hp2 HG02258.hp1 HG02630.hp2 HG02886.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0027 a0001c0003t0008 a0001c0003t0027	a0001c0003t0008g0039 a0001c0003t0008g0069 a0001c0003t0027g0009 a0001c0003t0008g0039 a0001c0003t0008g0069 a0001c0003t0027g0009	3	76	0.0395	35	c.743 others(52): Show c.743-4965_743-4964insTCCCGGGTTCAAGCGATTCTCCTGCCTC AGTTTCC	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVPR2_chrX_153899673_153912166	153903417	A A	ATGTGGTG others(28): Show ATGTGGTGTGGTATGGTGTGCAGGTGCATGCAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG01891.hp1 HG02615.hp1 others(8): Show HG01361.hp1 HG01891.hp1 HG02615.hp1 HG02717.hp1 HG02723.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG03195.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	11	320	0.0344	35	c.-15 others(46): Show c.-1527_-1526insTGTGGTGTGGTATGGTGTGCAGGTGCATGCAGGT G	AVPR2	ENSG00000126895.16	transcript	ENST00000646375.2	protein_coding		1255		chrX	TogoVar
AVPR2_chrX_153899673_153912166	153903418	T T	TGTGGTGT others(28): Show TGTGGTGTGGTATGGTGTGCAGGTGCATGCAGGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp1 others(306): Show HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18952.hp1 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18976.hp1 NA18976.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18994.hp1 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19055.hp1 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19076.hp1 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA19089.hp1 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011	a0001c0001 a0001c0002 a0001c0004 others(14): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0001c0008 a0001c0011 a0001c0012 a0002c0003 a0003c0006 a0004c0005 a0005c0010 a0006c0009 a0007c0013 a0008c0017 a0009c0016 a0010c0014 a0011c0015	a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 others(17): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 a0001c0002t0006 a0001c0004t0001 a0001c0004t0002 a0001c0007t0001 a0001c0008t0001 a0001c0011t0005 a0001c0012t0001 a0002c0003t0001 a0003c0006t0001 a0004c0005t0001 a0005c0010t0001 a0006c0009t0003 a0007c0013t0001 a0008c0017t0001 a0009c0016t0001 a0010c0014t0001 a0011c0015t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(21): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0002t0001g0001 a0001c0002t0004g0001 a0001c0002t0006g0001 a0001c0004t0001g0001 a0001c0004t0001g0002 a0001c0004t0002g0001 a0001c0007t0001g0003 a0001c0008t0001g0001 a0001c0011t0005g0001 a0001c0012t0001g0001 a0002c0003t0001g0002 a0003c0006t0001g0001 a0004c0005t0001g0001 a0005c0010t0001g0001 a0006c0009t0003g0001 a0007c0013t0001g0001 a0008c0017t0001g0001 a0009c0016t0001g0001 a0010c0014t0001g0001 a0011c0015t0001g0001	309	320	0.9656	35	c.-15 others(46): Show c.-1526_-1525insGTGGTGTGGTATGGTGTGCAGGTGCATGCAGGTG C	AVPR2	ENSG00000126895.16	transcript	ENST00000646375.2	protein_coding		1254		chrX	TogoVar
AXDND1_chr1_179360971_179559735	179394592	A A	AAAAATAA others(28): Show AAAAATAAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00741.hp1 HG01109.hp2 others(8): Show HG00735.hp1 HG00741.hp1 HG01109.hp2 HG01175.hp1 HG01978.hp2 HG02622.hp2 HG02630.hp1 HG02970.hp2 NA19003.hp2 NA19030.hp2 NA19043.hp1	a0003 a0006 a0008 others(1): Show a0003 a0006 a0008 a0020	a0003c0004 a0006c0009 a0008c0012 others(1): Show a0003c0004 a0006c0009 a0008c0012 a0020c0030	a0003c0004t0001 a0006c0009t0001 a0008c0012t0001 others(1): Show a0003c0004t0001 a0006c0009t0001 a0008c0012t0001 a0020c0030t0001	a0003c0004t0001g0015 a0003c0004t0001g0179 a0003c0004t0001g0180 others(8): Show a0003c0004t0001g0015 a0003c0004t0001g0179 a0003c0004t0001g0180 a0006c0009t0001g0175 a0006c0009t0001g0191 a0008c0012t0001g0168 a0008c0012t0001g0169 a0008c0012t0001g0170 a0008c0012t0001g0171 a0008c0012t0001g0172 a0020c0030t0001g0181	11	296	0.0372	35	c.100 others(52): Show c.1005-485_1005-484insAAATAAAATAAAATAAAATAAAATAAAA TAAAATA	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	10/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
AXIN1_chr16_282440_357723	285908	C C	CCCCAACC others(28): Show CCCCAACCCCAACCCCAACCCCAACCCCGCGGTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02896.hp1 HG02572.hp2 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0038 a0001c0001t0018g0039 a0001c0001t0018g0038 a0001c0001t0018g0039	2	372	0.0054	35	c.22 others(46): Show c.2213_*2214insAGAACCGCGGGGTTGGGGTTGGGGTTGGGGTTGG G	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding		1531		chr16	TogoVar
AXIN1_chr16_282440_357723	285966	T T	TCCCAACC others(28): Show TCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0025 a0001c0004t0025	a0001c0004t0025g0335 a0001c0004t0025g0335	1	356	0.0028	35	c.21 others(46): Show c.2155_*2156insGTTGGGGTTGGGAGAACCGCGGGGTTGGGGTTGG G	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding		1473		chr16	TogoVar

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