Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ATP9A_chr20_51591514_51773390	51687774	A A	ATGAATGA others(6): Show ATGAATGAATGAAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00738.hp2 others(3): Show HG00280.hp2 HG00323.hp2 HG00738.hp2 HG01069.hp1 HG01071.hp2 HG01175.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0067 a0001c0002t0004g0068 a0001c0002t0004g0143 others(3): Show a0001c0002t0004g0067 a0001c0002t0004g0068 a0001c0002t0004g0143 a0001c0002t0004g0192 a0001c0002t0004g0201 a0001c0002t0004g0203	6	244	0.0246	13	c.799 others(30): Show c.799+1289_799+1290insATTCATTCATTCA	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	9/27			chr20	TogoVar
ATP9B_chr18_79064394_79383283	79071395	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0152 a0001c0003t0003g0152	1	291	0.0034	13	c.119 others(30): Show c.119+1868_119+1869insTTTTTTTTTTTTT	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79071398	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0004 a0001c0013t0004	a0001c0013t0004g0108 a0001c0013t0004g0108	1	251	0.0040	13	c.119 others(30): Show c.119+1869_119+1870insTTTTTTTTTTTTT	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	1/29			chr18	TogoVar
ATP9B_chr18_79064394_79383283	79071399	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01123.hp1 NA19004.hp1 HG00544.hp1 HG01123.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022	3	4	0.7500	13	c.119 others(30): Show c.119+1872_119+1884dupTTTTTTTTTTTTT	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79157396	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG04115.hp1 HG02922.hp1 HG04115.hp1	a0002 a0010 a0002 a0010	a0002c0002 a0010c0029 a0002c0002 a0010c0029	a0002c0002t0002 a0010c0029t0004 a0002c0002t0002 a0010c0029t0004	a0002c0002t0002g0247 a0010c0029t0004g0220 a0002c0002t0002g0247 a0010c0029t0004g0220	2	107	0.0187	13	c.778 others(30): Show c.778+2857_778+2869dupAAAAAAAAAAAAA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	7/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79157404	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0246 a0002c0002t0002g0246	1	291	0.0034	13	c.778 others(30): Show c.778+2861_778+2862insCAAAAAAAAAAAA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	7/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79376172	A A	ACACACAC others(6): Show ACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	115	0.0087	13	c.330 others(30): Show c.3307+746_3307+747insCACACACACACAC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	29/29			chr18	TogoVar
ATP9B_chr18_79064394_79383283	79376214	C C	CACACACA others(6): Show CACACACACAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	193	0.0052	13	c.330 others(30): Show c.3307+789_3307+790insCACACACAAAAAA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	29/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATRNL1_chr10_115088365_115953999	115223929	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0023 a0001c0001t0008g0023	1	52	0.0192	13	c.153 others(32): Show c.1532+8050_1532+8051insATATATATATATT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	9/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115223929	A A	ATATATAT others(6): Show ATATATATATATTT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0019 a0001c0001t0019g0019	1	52	0.0192	13	c.153 others(32): Show c.1532+8050_1532+8051insATATATATATTTT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	9/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115223929	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0034 a0001c0015t0034	a0001c0015t0034g0096 a0001c0015t0034g0096	1	52	0.0192	13	c.153 others(32): Show c.1532+8057_1532+8069dupTTTTTTTTTTTTT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	9/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115223930	T T	TATATATA others(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02145.hp2 HG02559.hp2 others(2): Show HG01891.hp2 HG02145.hp2 HG02559.hp2 HG03471.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0013 a0001c0001t0023 others(2): Show a0001c0001t0010 a0001c0001t0013 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026	a0001c0001t0010g0017 a0001c0001t0013g0018 a0001c0001t0023g0022 others(2): Show a0001c0001t0010g0017 a0001c0001t0013g0018 a0001c0001t0023g0022 a0001c0001t0025g0020 a0001c0001t0026g0021	5	121	0.0413	13	c.153 others(32): Show c.1532+8050_1532+8051insATATATATATATA	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	9/28			chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115381432	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02630.hp1 HG02809.hp1 others(6): Show HG02615.hp2 HG02630.hp1 HG02809.hp1 HG02818.hp1 HG02895.hp1 HG02897.hp1 HG03453.hp2 HG03486.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0002c0004	a0001c0001t0007 a0001c0001t0008 a0001c0001t0016 others(4): Show a0001c0001t0007 a0001c0001t0008 a0001c0001t0016 a0001c0002t0005 a0001c0006t0013 a0002c0004t0002 a0002c0004t0012	a0001c0001t0007g0027 a0001c0001t0008g0030 a0001c0001t0016g0031 others(6): Show a0001c0001t0007g0027 a0001c0001t0008g0030 a0001c0001t0016g0031 a0001c0002t0005g0041 a0001c0006t0013g0029 a0002c0004t0002g0011 a0002c0004t0002g0012 a0002c0004t0012g0025 a0002c0004t0012g0026	9	42	0.2143	13	c.317 others(34): Show c.3176-13222_3176-13210dupTTTTTTTTTTTTT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	19/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115403257	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0013 a0001c0001t0008g0013	1	36	0.0278	13	c.326 others(32): Show c.3269+8512_3269+8524dupTTTTTTTTTTTTT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	20/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115738154	T T	TTTTTTTT others(6): Show TTTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02895.hp2 NA18906.hp1 others(1): Show HG02559.hp2 HG02895.hp2 NA18906.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0010 a0001c0001t0011 a0001c0002t0001 others(1): Show a0001c0001t0010 a0001c0001t0011 a0001c0002t0001 a0001c0003t0031	a0001c0001t0010g0017 a0001c0001t0011g0121 a0001c0002t0001g0048 others(1): Show a0001c0001t0010g0017 a0001c0001t0011g0121 a0001c0002t0001g0048 a0001c0003t0031g0015	4	93	0.0430	13	c.390 others(34): Show c.3903+10801_3903+10802insTTTTTTTTTTCTT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	27/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115802046	A A	ACACACAC others(6): Show ACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01081.hp1 HG02300.hp2 others(5): Show HG01071.hp2 HG01081.hp1 HG02300.hp2 HG03041.hp1 HG03453.hp1 HG03579.hp2 HG03834.hp2 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0010 a0002c0014	a0001c0001t0011 a0001c0002t0004 a0001c0002t0028 others(5): Show a0001c0001t0011 a0001c0002t0004 a0001c0002t0028 a0001c0003t0003 a0001c0003t0004 a0001c0003t0015 a0001c0010t0006 a0002c0014t0009	a0001c0001t0011g0114 a0001c0002t0004g0056 a0001c0002t0028g0077 others(5): Show a0001c0001t0011g0114 a0001c0002t0004g0056 a0001c0002t0028g0077 a0001c0003t0003g0058 a0001c0003t0004g0040 a0001c0003t0015g0124 a0001c0010t0006g0090 a0002c0014t0009g0071	8	51	0.1569	13	c.390 others(34): Show c.3904-45831_3904-45830insCACACACACACAC	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	27/28			chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115856428	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01361.hp1 HG01515.hp1 others(8): Show HG01071.hp1 HG01361.hp1 HG01515.hp1 HG02258.hp2 HG02615.hp2 HG03239.hp2 HG03453.hp1 HG03834.hp2 NA18994.hp1 NA18995.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0010 a0001c0013	a0001c0001t0016 a0001c0002t0004 a0001c0002t0005 others(4): Show a0001c0001t0016 a0001c0002t0004 a0001c0002t0005 a0001c0002t0028 a0001c0003t0045 a0001c0010t0006 a0001c0013t0009	a0001c0001t0016g0031 a0001c0002t0004g0052 a0001c0002t0004g0054 others(8): Show a0001c0001t0016g0031 a0001c0002t0004g0052 a0001c0002t0004g0054 a0001c0002t0005g0036 a0001c0002t0005g0041 a0001c0002t0005g0042 a0001c0002t0005g0055 a0001c0002t0028g0077 a0001c0003t0045g0093 a0001c0010t0006g0090 a0001c0013t0009g0079	11	17	0.6471	13	c.401 others(32): Show c.4018+8447_4018+8459dupAAAAAAAAAAAAA	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	28/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115868822	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01515.hp2 HG02015.hp2 others(7): Show HG00735.hp1 HG01515.hp2 HG02015.hp2 HG02135.hp2 HG02280.hp1 HG02300.hp1 HG02523.hp2 HG03139.hp2 NA19003.hp2 NA19070.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0029 a0001c0002t0004 a0001c0003t0003 a0001c0005t0021 a0002c0004t0007	a0001c0001t0001g0074 a0001c0001t0002g0080 a0001c0001t0003g0095 others(7): Show a0001c0001t0001g0074 a0001c0001t0002g0080 a0001c0001t0003g0095 a0001c0001t0029g0076 a0001c0002t0004g0037 a0001c0002t0004g0038 a0001c0002t0004g0127 a0001c0003t0003g0047 a0001c0005t0021g0007 a0002c0004t0007g0010	10	20	0.5000	13	c.401 others(34): Show c.4018+20844_4018+20856dupTTTTTTTTTTTTT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	28/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRN_chr20_3466018_3656118	3485610	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0179 a0001c0003t0007g0179	1	43	0.0233	13	c.410 others(32): Show c.410+14110_410+14122dupTTTTTTTTTTTTT	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3519006	T T	TATAAAAA others(6): Show TATAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00733.hp2 HG00735.hp1 others(9): Show HG00140.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG01081.hp1 HG01123.hp2 HG01175.hp1 HG01261.hp2 HG02886.hp1 HG03041.hp2 HG03225.hp2 NA20805.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0006 others(1): Show a0001c0003 a0001c0005 a0001c0006 a0001c0007	a0001c0003t0005 a0001c0003t0007 a0001c0005t0007 others(4): Show a0001c0003t0005 a0001c0003t0007 a0001c0005t0007 a0001c0005t0038 a0001c0006t0004 a0001c0006t0020 a0001c0007t0003	a0001c0003t0005g0178 a0001c0003t0005g0190 a0001c0003t0007g0179 others(9): Show a0001c0003t0005g0178 a0001c0003t0005g0190 a0001c0003t0007g0179 a0001c0003t0007g0187 a0001c0003t0007g0188 a0001c0005t0007g0181 a0001c0005t0007g0191 a0001c0005t0038g0189 a0001c0006t0004g0186 a0001c0006t0020g0180 a0001c0007t0003g0185 a0001c0007t0003g0193	12	173	0.0694	13	c.411 others(32): Show c.411-16246_411-16245insTAAAAAAAAAAAA	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3554990	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02895.hp1 HG02145.hp2 HG02895.hp1	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0002 a0001c0006t0003 a0001c0003t0002 a0001c0006t0003	a0001c0003t0002g0214 a0001c0006t0003g0211 a0001c0003t0002g0214 a0001c0006t0003g0211	2	13	0.1538	13	c.111 others(32): Show c.1113-4385_1113-4373dupTTTTTTTTTTTTT	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	6/28		INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRX_chrX_77499880_77791216	77585583	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02559.hp2 NA19011.hp1 others(1): Show HG00597.hp2 HG02559.hp2 NA19011.hp1 NA19056.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0002c0002t0001 a0001c0001t0005 a0002c0002t0001	a0001c0001t0005g0068 a0002c0002t0001g0009 a0002c0002t0001g0015 others(1): Show a0001c0001t0005g0068 a0002c0002t0001g0009 a0002c0002t0001g0015 a0002c0002t0001g0061	4	14	0.2857	13	c.621 others(32): Show c.6217+4238_6217+4250dupTTTTTTTTTTTTT	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	27/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77651217	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0167 a0001c0001t0002g0167	1	17	0.0588	13	c.455 others(30): Show c.4557+884_4557+896dupTTTTTTTTTTTTT	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	15/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77671167	A A	AAAAAAAT others(6): Show AAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0023 a0002c0002t0002g0023	1	63	0.0159	13	c.380 others(32): Show c.3809+5058_3809+5059insATATATATTTTTT	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	10/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77671167	A A	AAATATAT others(6): Show AAATATATATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0161 a0001c0001t0003g0161	1	63	0.0159	13	c.380 others(32): Show c.3809+5058_3809+5059insATATATATATATT	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	10/34			chrX	TogoVar
ATR_chr3_142444235_142583733	142454437	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 NA20129.hp2 HG02280.hp2 NA20129.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0022 a0001c0006t0001g0023 a0001c0006t0001g0022 a0001c0006t0001g0023	2	182	0.0110	13	c.765 others(32): Show c.7656-1217_7656-1205dupAAAAAAAAAAAAA	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	45/46			chr3	TogoVar
ATR_chr3_142444235_142583733	142528879	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0179 a0003c0003t0001g0179	1	99	0.0101	13	c.394 others(32): Show c.3946-4681_3946-4680insATATATATATATA	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	21/46			chr3	TogoVar
ATR_chr3_142444235_142583733	142528879	A A	ATATATAT others(6): Show ATATATATATATTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0180 a0003c0003t0001g0180	1	99	0.0101	13	c.394 others(32): Show c.3946-4681_3946-4680insAAATATATATATA	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	21/46			chr3	TogoVar
ATR_chr3_142444235_142583733	142528879	A A	ATATATAT others(6): Show ATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG02055.hp2 others(1): Show HG01256.hp1 HG01258.hp2 HG02055.hp2 HG02895.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0155 a0003c0003t0001g0157 a0003c0003t0001g0185 others(1): Show a0003c0003t0001g0155 a0003c0003t0001g0157 a0003c0003t0001g0185 a0003c0003t0001g0186	4	102	0.0392	13	c.394 others(32): Show c.3946-4681_3946-4680insAAAAATATATATA	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	21/46			chr3	TogoVar
ATR_chr3_142444235_142583733	142528879	A A	ATATATAT others(6): Show ATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03098.hp2 NA18522.hp2 HG01243.hp1 HG03098.hp2 NA18522.hp2	a0001 a0003 a0001 a0003	a0001c0004 a0003c0003 a0001c0004 a0003c0003	a0001c0004t0001 a0003c0003t0001 a0001c0004t0001 a0003c0003t0001	a0001c0004t0001g0159 a0001c0004t0001g0310 a0003c0003t0001g0158 a0001c0004t0001g0159 a0001c0004t0001g0310 a0003c0003t0001g0158	3	101	0.0297	13	c.394 others(32): Show c.3946-4681_3946-4680insAAAAAAATATATA	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	21/46			chr3	TogoVar
ATR_chr3_142444235_142583733	142528879	A A	ATATTTTT others(6): Show ATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0153 a0001c0004t0001g0153	1	99	0.0101	13	c.394 others(32): Show c.3946-4681_3946-4680insAAAAAAAAAAATA	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	21/46			chr3	TogoVar
ATR_chr3_142444235_142583733	142528880	T T	TATATATA others(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0019 a0001c0006t0001g0019	1	309	0.0032	13	c.394 others(32): Show c.3946-4682_3946-4681insTATATATATATAT	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	21/46			chr3	TogoVar
ATR_chr3_142444235_142583733	142544452	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01243.hp2 HG01255.hp2 others(31): Show HG00280.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01261.hp1 HG01516.hp1 HG01517.hp2 HG02027.hp1 HG02145.hp1 HG02257.hp2 HG02300.hp2 HG02451.hp1 HG02559.hp2 HG02572.hp1 HG02897.hp2 HG02965.hp1 HG02976.hp2 HG03209.hp1 HG03225.hp1 HG03688.hp1 HG03942.hp1 HG04199.hp1 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18945.hp1 NA18948.hp2 NA18951.hp2 NA18956.hp2 NA18985.hp1 NA18985.hp2 NA19057.hp1 NA19058.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0028 a0001c0001t0001g0040 others(30): Show a0001c0001t0001g0002 a0001c0001t0001g0028 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0100 a0001c0001t0001g0111 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136	34	145	0.2345	13	c.335 others(32): Show c.3358-1708_3358-1696dupTTTTTTTTTTTTT	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	16/46			chr3	TogoVar
ATXN10_chr22_45666834_45850307	45751763	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0097 a0001c0001t0002g0097	1	282	0.0035	13	c.117 others(34): Show c.1173+11227_1173+11228insAAAAAAAAAATAA	ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN1_chr6_16294112_16766460	16316865	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp2 HG03130.hp1 others(7): Show HG01884.hp2 HG02055.hp2 HG03130.hp1 HG04115.hp1 NA18522.hp1 NA18747.hp2 NA18942.hp1 NA18960.hp2 NA18972.hp1 NA19240.hp1	a0002 a0003 a0005 a0002 a0003 a0005	a0002c0004 a0002c0018 a0003c0013 others(2): Show a0002c0004 a0002c0018 a0003c0013 a0005c0007 a0005c0017	a0002c0004t0003 a0002c0004t0049 a0002c0018t0002 others(3): Show a0002c0004t0003 a0002c0004t0049 a0002c0018t0002 a0003c0013t0007 a0005c0007t0005 a0005c0017t0001	a0002c0004t0003g0051 a0002c0004t0003g0114 a0002c0004t0049g0005 others(7): Show a0002c0004t0003g0051 a0002c0004t0003g0114 a0002c0004t0049g0005 a0002c0018t0002g0004 a0003c0013t0007g0011 a0005c0007t0005g0092 a0005c0007t0005g0100 a0005c0007t0005g0168 a0005c0017t0001g0074 a0005c0017t0001g0143	10	50	0.2000	13	c.191 others(32): Show c.1917+9516_1917+9528dupAAAAAAAAAAAAA	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	7/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16395270	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02257.hp2 HG02622.hp1 HG01081.hp1 HG02257.hp2 HG02622.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0008 a0002c0003 a0001c0001 a0001c0008 a0002c0003	a0001c0001t0001 a0001c0008t0011 a0002c0003t0001 a0001c0001t0001 a0001c0008t0011 a0002c0003t0001	a0001c0001t0001g0159 a0001c0008t0011g0053 a0002c0003t0001g0039 a0001c0001t0001g0159 a0001c0008t0011g0053 a0002c0003t0001g0039	3	144	0.0208	13	c.-16 others(34): Show c.-160-66813_-160-66801dupTTTTTTTTTTTTT	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16682203	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00438.hp2 others(35): Show HG00140.hp1 HG00408.hp2 HG00438.hp2 HG00597.hp1 HG00609.hp2 HG01109.hp1 HG01168.hp2 HG01261.hp1 HG01346.hp1 HG01496.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02056.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp2 HG02300.hp1 HG02523.hp2 HG02602.hp2 HG02698.hp1 HG02895.hp2 HG03225.hp1 HG03688.hp2 HG03927.hp1 HG04199.hp2 NA18612.hp2 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18951.hp1 NA18952.hp2 NA18957.hp2 NA18973.hp1 NA19009.hp2 NA19060.hp2 NA20300.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0010 a0001c0019 others(15): Show a0001c0001 a0001c0010 a0001c0019 a0001c0034 a0002c0003 a0002c0004 a0002c0011 a0003c0002 a0003c0009 a0003c0013 a0003c0015 a0003c0021 a0003c0022 a0004c0005 a0004c0006 a0004c0014 a0005c0007 a0006c0024	a0001c0001t0001 a0001c0001t0005 a0001c0001t0029 others(25): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0029 a0001c0010t0004 a0001c0010t0023 a0001c0019t0001 a0001c0034t0004 a0002c0003t0001 a0002c0003t0021 a0002c0004t0006 a0002c0011t0007 a0003c0002t0002 a0003c0002t0007 a0003c0002t0008 a0003c0002t0009 a0003c0009t0001 a0003c0013t0001 a0003c0015t0025 a0003c0021t0004 a0003c0021t0014 a0003c0022t0001 a0004c0005t0002 a0004c0005t0032 a0004c0006t0002 a0004c0006t0003 a0004c0014t0001 a0005c0007t0005 a0006c0024t0002	a0001c0001t0001g0045 a0001c0001t0001g0123 a0001c0001t0001g0178 others(35): Show a0001c0001t0001g0045 a0001c0001t0001g0123 a0001c0001t0001g0178 a0001c0001t0005g0085 a0001c0001t0029g0145 a0001c0010t0004g0050 a0001c0010t0004g0144 a0001c0010t0023g0023 a0001c0019t0001g0107 a0001c0034t0004g0065 a0002c0003t0001g0042 a0002c0003t0001g0049 a0002c0003t0021g0003 a0002c0004t0006g0010 a0002c0011t0007g0151 a0003c0002t0002g0090 a0003c0002t0007g0136 a0003c0002t0008g0063 a0003c0002t0008g0081 a0003c0002t0008g0138 a0003c0002t0009g0094 a0003c0009t0001g0073 a0003c0009t0001g0174 a0003c0013t0001g0117 a0003c0015t0025g0142 a0003c0021t0004g0032 a0003c0021t0014g0102 a0003c0022t0001g0146 a0004c0005t0002g0177 a0004c0005t0032g0099 a0004c0006t0002g0035 a0004c0006t0002g0040 a0004c0006t0002g0097 a0004c0006t0002g0169 a0004c0006t0003g0066 a0004c0014t0001g0152 a0005c0007t0005g0036 a0006c0024t0002g0170	38	93	0.4086	13	c.-61 others(34): Show c.-614-24303_-614-24302insAAAAAAAAAAAAA	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	2/7			chr6	TogoVar
ATXN2L_chr16_28817999_28842232	28822935	G G	GCCCCCCC others(6): Show GCCCCCCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0101 a0001c0010t0001g0101	1	111	0.0090	13	c.-32 others(22): Show c.-325_-324insCCCCCCCCCCCCC	ATXN2L	ENSG00000168488.19	transcript	ENST00000336783.9	protein_coding		63		chr16	TogoVar
ATXN2_chr12_111447214_111604315	111474511	G G	GGGAGAGG others(6): Show GGGAGAGGCTGAGA	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0055 a0002c0002t0001g0055	1	296	0.0034	13	c.252 others(32): Show c.2525-3770_2525-3769insTCTCAGCCTCTCC	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	18/24			chr12	TogoVar
ATXN2_chr12_111447214_111604315	111553604	A A	AAAAATTT others(6): Show AAAAATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG04115.hp1 HG02135.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0216 a0001c0001t0004g0283 a0001c0001t0004g0216 a0001c0001t0004g0283	2	55	0.0364	13	c.348 others(28): Show c.348+553_348+554insAAAAAAAAATTTT	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	3/24			chr12	TogoVar
ATXN2_chr12_111447214_111604315	111553604	A A	AAAATTTT others(6): Show AAAATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0228 a0001c0001t0002g0228	1	54	0.0185	13	c.348 others(28): Show c.348+553_348+554insAAAAAAAAAATTT	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	3/24			chr12	TogoVar
ATXN2_chr12_111447214_111604315	111588991	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA19067.hp1 HG00544.hp2 NA19067.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0072 a0002c0002t0001g0098 a0002c0002t0001g0072 a0002c0002t0001g0098	2	25	0.0800	13	c.251 others(30): Show c.251+9780_251+9792dupTTTTTTTTTTTTT	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/24			chr12	TogoVar
ATXN2_chr12_111447214_111604315	111592782	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0004 a0004	a0004c0020 a0004c0020	a0004c0020t0003 a0004c0020t0003	a0004c0020t0003g0119 a0004c0020t0003g0119	1	78	0.0128	13	c.251 others(30): Show c.251+5989_251+6001dupTTTTTTTTTTTTT	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/24			chr12	TogoVar
ATXN3_chr14_92053552_92111582	92086253	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02165.hp1 HG03491.hp2 others(15): Show HG02040.hp1 HG02165.hp1 HG03491.hp2 HG03492.hp2 NA18948.hp2 NA18950.hp1 NA18952.hp1 NA18954.hp2 NA18956.hp1 NA18971.hp1 NA18974.hp1 NA18980.hp1 NA19030.hp2 NA19055.hp2 NA19083.hp1 NA19084.hp2 NA19089.hp2 NA19091.hp2	a0003 a0016 a0021 a0003 a0016 a0021	a0003c0004 a0016c0042 a0021c0027 a0003c0004 a0016c0042 a0021c0027	a0003c0004t0005 a0003c0004t0073 a0016c0042t0005 others(1): Show a0003c0004t0005 a0003c0004t0073 a0016c0042t0005 a0021c0027t0063	a0003c0004t0005g0001 a0003c0004t0005g0009 a0003c0004t0005g0097 others(11): Show a0003c0004t0005g0001 a0003c0004t0005g0009 a0003c0004t0005g0097 a0003c0004t0005g0098 a0003c0004t0005g0100 a0003c0004t0005g0296 a0003c0004t0005g0301 a0003c0004t0005g0302 a0003c0004t0005g0303 a0003c0004t0005g0304 a0003c0004t0073g0094 a0016c0042t0005g0298 a0016c0042t0005g0299 a0021c0027t0063g0308	18	196	0.0918	13	c.475 others(30): Show c.475+2464_475+2476dupTTTTTTTTTTTTT	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	6/10			chr14	TogoVar
ATXN7L1_chr7_105599772_105881599	105619140	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG02572.hp1 HG02735.hp1 others(1): Show HG01256.hp1 HG02572.hp1 HG02735.hp1 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0013 a0001c0001t0024 others(1): Show a0001c0001t0002 a0001c0001t0013 a0001c0001t0024 a0001c0001t0029	a0001c0001t0002g0003 a0001c0001t0013g0109 a0001c0001t0024g0037 others(1): Show a0001c0001t0002g0003 a0001c0001t0013g0109 a0001c0001t0024g0037 a0001c0001t0029g0068	4	14	0.2857	13	c.151 others(32): Show c.1517+1047_1517+1059dupAAAAAAAAAAAAA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	9/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105619531	T T	TATATATA others(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0173 a0001c0001t0002g0173	1	222	0.0045	13	c.151 others(30): Show c.1517+668_1517+669insTATATATATATAT	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	9/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105671104	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0248 a0001c0001t0006g0248	1	54	0.0185	13	c.356 others(30): Show c.356-5829_356-5817dupTTTTTTTTTTTTT	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105694050	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0027 a0007c0010t0027	a0007c0010t0027g0204 a0007c0010t0027g0204	1	206	0.0049	13	c.356 others(32): Show c.356-28775_356-28763dupAAAAAAAAAAAAA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105727767	T T	TATATATA others(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02132.hp2 HG02523.hp1 others(1): Show HG02055.hp1 HG02132.hp2 HG02523.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0016 a0001c0001t0001 a0001c0001t0011 a0001c0001t0016	a0001c0001t0001g0043 a0001c0001t0001g0089 a0001c0001t0011g0169 others(1): Show a0001c0001t0001g0043 a0001c0001t0001g0089 a0001c0001t0011g0169 a0001c0001t0016g0224	4	195	0.0205	13	c.355 others(32): Show c.355+60836_355+60837insTATATATATATAT	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105790674	A A	ATCTATCT others(6): Show ATCTATCTATCTAT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0026 a0002c0002t0026	a0002c0002t0026g0208 a0002c0002t0026g0208	1	16	0.0625	13	c.251 others(30): Show c.251-1967_251-1966insATAGATAGATAGA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	2/11			chr7	TogoVar

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