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	51642726	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0057 a0001c0003t0057	a0001c0003t0057g0087 a0001c0003t0057g0087	1	222	0.0045	19	c.150 others(38): Show c.1507-3241_1507-3223dupTTTTTTTTTTTTTTTTTTT	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	14/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51658888	C C	CGGGGGGG others(12): Show CGGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03130.hp2 NA18973.hp2 HG02280.hp2 HG03130.hp2 NA18973.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0005 a0001c0003 a0001c0004 a0001c0005	a0001c0003t0014 a0001c0004t0005 a0001c0005t0043 a0001c0003t0014 a0001c0004t0005 a0001c0005t0043	a0001c0003t0014g0159 a0001c0004t0005g0187 a0001c0005t0043g0128 a0001c0003t0014g0159 a0001c0004t0005g0187 a0001c0005t0043g0128	3	51	0.0588	19	c.129 others(38): Show c.1294-1739_1294-1738insCCCCCCCCCCCCCCCCCCC	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	13/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51718814	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0203 a0001c0002t0004g0203	1	81	0.0123	19	c.328 others(36): Show c.328-5759_328-5741dupTTTTTTTTTTTTTTTTTTT	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	3/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51765642	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG03041.hp2 HG00735.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0012 a0001c0001t0003 a0001c0001t0012	a0001c0001t0003g0080 a0001c0001t0012g0081 a0001c0001t0003g0080 a0001c0001t0012g0081	2	196	0.0102	19	c.68+ others(34): Show c.68+2659_68+2660insTTTTTTTTTTTTTTTTTTT	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	1/27			chr20	TogoVar
ATP9B_chr18_79064394_79383283	79071399	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01123.hp2 HG02071.hp1 others(11): Show HG00735.hp2 HG01123.hp2 HG02071.hp1 HG02300.hp1 HG02735.hp1 HG03225.hp2 HG04204.hp2 NA18747.hp1 NA18944.hp1 NA18951.hp1 NA18971.hp1 NA18998.hp1 NA19001.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0004t0003 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0004t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0009	a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 others(11): Show a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0004t0003g0034 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0002g0249 a0002c0002t0002g0251 a0002c0002t0009g0250	14	15	0.9333	19	c.119 others(36): Show c.119+1884_119+1885insTTTTTTTTTTTTTTTTTTT	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79376214	C C	CACACACA others(12): Show CACACACACACACACACAAA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	193	0.0052	19	c.330 others(36): Show c.3307+789_3307+790insCACACACACACACACAAAA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	29/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATRNL1_chr10_115088365_115953999	115381432	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0032 a0001c0001t0022g0032	1	34	0.0294	19	c.317 others(40): Show c.3176-13210_3176-13209insTTTTTTTTTTTTTTTTTTT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	19/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115738154	T T	TTTTTTTT others(12): Show TTTTTTTTTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02135.hp1 HG04115.hp2 HG01071.hp2 HG02135.hp1 HG04115.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0009 a0002c0014 a0001c0001 a0001c0009 a0002c0014	a0001c0001t0001 a0001c0009t0005 a0002c0014t0009 a0001c0001t0001 a0001c0009t0005 a0002c0014t0009	a0001c0001t0001g0066 a0001c0009t0005g0057 a0002c0014t0009g0071 a0001c0001t0001g0066 a0001c0009t0005g0057 a0002c0014t0009g0071	3	92	0.0326	19	c.390 others(40): Show c.3903+10801_3903+10802insTTTTTTTTTTTTTTTTCTT	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(12): Show ACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00741.hp2 HG01123.hp1 others(13): Show HG00738.hp1 HG00741.hp2 HG01123.hp1 HG01258.hp1 HG01515.hp1 HG02015.hp2 HG02809.hp2 HG02976.hp2 HG04115.hp2 NA18957.hp1 NA18994.hp1 NA18995.hp1 NA19011.hp1 NA19070.hp1 NA20752.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0009	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0003t0038 a0001c0003t0039 a0001c0006t0009 a0001c0009t0005	a0001c0001t0001g0067 a0001c0001t0001g0101 a0001c0001t0003g0064 others(13): Show a0001c0001t0001g0067 a0001c0001t0001g0101 a0001c0001t0003g0064 a0001c0002t0001g0039 a0001c0002t0001g0043 a0001c0002t0004g0038 a0001c0002t0004g0052 a0001c0002t0004g0054 a0001c0002t0004g0065 a0001c0002t0004g0127 a0001c0002t0005g0036 a0001c0002t0005g0041 a0001c0003t0038g0122 a0001c0003t0039g0126 a0001c0006t0009g0085 a0001c0009t0005g0057	16	59	0.2712	19	c.390 others(40): Show c.3904-45831_3904-45830insCACACACACACACACACAC	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	27/28			chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115856428	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02723.hp1 HG02896.hp1 others(2): Show HG00738.hp2 HG02723.hp1 HG02896.hp1 HG02897.hp2 HG02976.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0008 a0001c0001 a0001c0005 a0002c0008	a0001c0001t0020 a0001c0005t0007 a0001c0005t0018 others(1): Show a0001c0001t0020 a0001c0005t0007 a0001c0005t0018 a0002c0008t0011	a0001c0001t0020g0117 a0001c0005t0007g0004 a0001c0005t0007g0009 others(2): Show a0001c0001t0020g0117 a0001c0005t0007g0004 a0001c0005t0007g0009 a0001c0005t0018g0003 a0002c0008t0011g0072	5	11	0.4545	19	c.401 others(38): Show c.4018+8441_4018+8459dupAAAAAAAAAAAAAAAAAAA	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	28/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRN_chr20_3466018_3656118	3519006	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG04199.hp1 NA18522.hp1 HG03942.hp2 HG04199.hp1 NA18522.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0011 a0002c0004t0016 a0002c0004t0011 a0002c0004t0016	a0002c0004t0011g0151 a0002c0004t0016g0155 a0002c0004t0016g0156 a0002c0004t0011g0151 a0002c0004t0016g0155 a0002c0004t0016g0156	3	164	0.0183	19	c.411 others(38): Show c.411-16233_411-16232insAAAAAAAAAAAAAAAAAAA	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRX_chrX_77499880_77791216	77585583	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0005 a0001c0007t0005	a0001c0007t0005g0077 a0001c0007t0005g0077	1	11	0.0909	19	c.621 others(38): Show c.6217+4232_6217+4250dupTTTTTTTTTTTTTTTTTTT	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	27/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77790990	C C	CTATAATA others(12): Show CTATAATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0013 a0002c0002t0002g0013	1	85	0.0118	19	c.-49 others(30): Show c.-4990_-4989insTATATATATATATATTATA	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding		4775		chrX	TogoVar
ATR_chr3_142444235_142583733	142528880	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02451.hp2 HG02717.hp1 HG02280.hp2 HG02451.hp2 HG02717.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0018 a0001c0006t0001g0020 a0001c0006t0001g0022 a0001c0006t0001g0018 a0001c0006t0001g0020 a0001c0006t0001g0022	3	311	0.0096	19	c.394 others(38): Show c.3946-4682_3946-4681insTATATATATATATATATAT	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	21/46			chr3	TogoVar
ATXN10_chr22_45666834_45850307	45751763	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAATAAT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01433.hp2 HG01070.hp1 HG01071.hp1 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0095 a0001c0001t0002g0102 a0001c0001t0002g0103	3	284	0.0106	19	c.117 others(40): Show c.1173+11227_1173+11228insAAAAAAAAAAAAATAATAA	ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN10_chr22_45666834_45850307	45753377	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	5	0.2000	19	c.117 others(40): Show c.1173+12869_1173+12887dupTTTTTTTTTTTTTTTTTTT	ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN10_chr22_45666834_45850307	45840363	C C	CAGCAGGT others(12): Show CAGCAGGTGCACCTAATCTA	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18985.hp1 NA19056.hp1 others(1): Show NA18964.hp2 NA18985.hp1 NA19056.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 others(1): Show a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151	4	314	0.0127	19	c.123 others(38): Show c.1238-2618_1238-2600dupACCTAATCTAAGCAGGTGC	ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN1_chr6_16294112_16766460	16395270	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02630.hp1 HG03209.hp2 HG02451.hp1 HG02630.hp1 HG03209.hp2	a0002 a0003 a0005 a0002 a0003 a0005	a0002c0030 a0003c0013 a0005c0016 a0002c0030 a0003c0013 a0005c0016	a0002c0030t0011 a0003c0013t0002 a0005c0016t0001 a0002c0030t0011 a0003c0013t0002 a0005c0016t0001	a0002c0030t0011g0047 a0003c0013t0002g0029 a0005c0016t0001g0127 a0002c0030t0011g0047 a0003c0013t0002g0029 a0005c0016t0001g0127	3	144	0.0208	19	c.-16 others(40): Show c.-160-66819_-160-66801dupTTTTTTTTTTTTTTTTTTT	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16606867	T T	TGTGTGTG others(12): Show TGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0021 a0001c0001t0030g0021	1	42	0.0238	19	c.-48 others(40): Show c.-488-20961_-488-20960insCACACACACACACACACAC	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	3/7			chr6	TogoVar
ATXN2_chr12_111447214_111604315	111576132	T T	TAACATAA others(12): Show TAACATAACATAACATAACA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02486.hp1 HG02486.hp2 others(4): Show HG02055.hp1 HG02486.hp1 HG02486.hp2 HG03209.hp1 HG03453.hp1 HG03579.hp2 NA20300.hp2	a0003 a0003	a0003c0004 a0003c0006 a0003c0004 a0003c0006	a0003c0004t0003 a0003c0004t0005 a0003c0006t0003 a0003c0004t0003 a0003c0004t0005 a0003c0006t0003	a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(4): Show a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 a0003c0004t0003g0012 a0003c0004t0003g0022 a0003c0004t0005g0011 a0003c0006t0003g0108	7	266	0.0263	19	c.252 others(38): Show c.252-20214_252-20213insTGTTATGTTATGTTATGTT	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/24			chr12	TogoVar
ATXN2_chr12_111447214_111604315	111588991	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA19057.hp2 NA18951.hp2 NA19057.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0030 a0002c0002t0001g0085 a0002c0002t0001g0030 a0002c0002t0001g0085	2	25	0.0800	19	c.251 others(36): Show c.251+9774_251+9792dupTTTTTTTTTTTTTTTTTTT	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/24			chr12	TogoVar
ATXN2_chr12_111447214_111604315	111592782	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02080.hp1 NA19056.hp1 NA19080.hp1 HG02080.hp1 NA19056.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0280 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0280 a0001c0001t0002g0286 a0001c0001t0002g0287	3	80	0.0375	19	c.251 others(36): Show c.251+5983_251+6001dupTTTTTTTTTTTTTTTTTTT	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/24			chr12	TogoVar
ATXN7L1_chr7_105599772_105881599	105727767	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19005.hp1 NA19003.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0057 a0001c0001t0004g0246 a0001c0001t0001g0057 a0001c0001t0004g0246	2	193	0.0104	19	c.355 others(38): Show c.355+60836_355+60837insTATATATATATATATATAT	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105740784	T T	TTTTTTTT others(12): Show TTTTTTTTTTTTTTTTTTGA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp2 HG01981.hp2 others(1): Show HG01884.hp1 HG01891.hp2 HG01981.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0036 a0001c0001t0050 a0001c0001t0005 a0001c0001t0036 a0001c0001t0050	a0001c0001t0005g0130 a0001c0001t0005g0165 a0001c0001t0036g0190 others(1): Show a0001c0001t0005g0130 a0001c0001t0005g0165 a0001c0001t0036g0190 a0001c0001t0050g0252	4	94	0.0426	19	c.355 others(38): Show c.355+47819_355+47820insTCAAAAAAAAAAAAAAAAA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105845487	T T	TTATCTTT others(12): Show TTATCTTTGTAGATCTGTTA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00738.hp1 HG01069.hp1 others(24): Show HG00642.hp2 HG00738.hp1 HG01069.hp1 HG01109.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01258.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01952.hp2 HG02148.hp2 HG02280.hp2 HG02572.hp1 HG02630.hp1 HG02818.hp1 HG02818.hp2 HG02965.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03490.hp1 HG03491.hp1 HG03516.hp2 HG04199.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0029 a0001c0001t0040 a0001c0001t0047 a0002c0002t0017	a0001c0001t0001g0075 a0001c0001t0001g0150 a0001c0001t0001g0235 others(24): Show a0001c0001t0001g0075 a0001c0001t0001g0150 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0002g0059 a0001c0001t0002g0181 a0001c0001t0002g0222 a0001c0001t0003g0239 a0001c0001t0003g0245 a0001c0001t0005g0184 a0001c0001t0005g0233 a0001c0001t0008g0229 a0001c0001t0008g0230 a0001c0001t0012g0244 a0001c0001t0014g0069 a0001c0001t0015g0213 a0001c0001t0021g0240 a0001c0001t0022g0234 a0001c0001t0023g0134 a0001c0001t0029g0068 a0001c0001t0040g0110 a0001c0001t0047g0133 a0002c0002t0017g0149	27	250	0.1080	19	c.250 others(38): Show c.250+30324_250+30325insTAACAGATCTACAAAGATA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	2/11			chr7	TogoVar
AUNIP_chr1_25829006_25864457	25831641	C C	CTATTTCA others(12): Show CTATTTCAGGAAATAGTAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp1 HG03491.hp1 HG03492.hp2 others(2): Show HG02735.hp1 HG03491.hp1 HG03492.hp2 HG03942.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0075 a0001c0001t0001g0090 others(1): Show a0001c0001t0001g0022 a0001c0001t0001g0075 a0001c0001t0001g0090 a0001c0001t0001g0104	5	350	0.0143	19	c.33 others(30): Show c.3333_*3351dupTTTACTATTTCCTGAAATA	AUNIP	ENSG00000127423.11	transcript	ENST00000374298.4	protein_coding		2364		chr1	TogoVar
AUTS2_chr7_69593475_70798506	69614365	T T	TTTCTTTC others(12): Show TTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0012 a0001c0001t0005g0012	1	75	0.0133	19	c.309 others(38): Show c.309+14405_309+14406insCTTTCTTTCTTTCTTTCTT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69619629	T T	TGGCCTGA others(12): Show TGGCCTGATTATCCTCTGTG	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA21309.hp1 NA20752.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0016 a0001c0001t0015 a0001c0001t0016	a0001c0001t0015g0002 a0001c0001t0016g0003 a0001c0001t0015g0002 a0001c0001t0016g0003	2	76	0.0263	19	c.309 others(38): Show c.309+19673_309+19691dupGATTATCCTCTGTGGGCCT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70053544	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0070 a0001c0001t0014g0070	1	28	0.0357	19	c.523 others(38): Show c.523-64576_523-64575insTTTTTTTTTTTTTTTTTTT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70177813	T T	TTGGAATT others(12): Show TTGGAATTATCCCCTCTCTC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00597.hp1 others(43): Show HG00099.hp2 HG00280.hp1 HG00597.hp1 HG00741.hp1 HG01081.hp1 HG01081.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01433.hp1 HG01884.hp1 HG01934.hp2 HG01952.hp2 HG02055.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02886.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG04199.hp1 HG04199.hp2 NA18612.hp2 NA18952.hp2 NA19030.hp2 NA19240.hp2 NA20752.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0003 a0001c0004 others(6): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0002c0002 a0002c0010 a0003c0011 a0004c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(27): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0028 a0001c0001t0029 a0001c0001t0032 a0001c0001t0034 a0001c0001t0035 a0001c0003t0008 a0001c0003t0027 a0001c0004t0012 a0001c0004t0013 a0001c0005t0030 a0001c0007t0006 a0002c0002t0024 a0002c0002t0026 a0002c0002t0031 a0002c0010t0033 a0003c0011t0007 a0004c0006t0003	a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0034 others(43): Show a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0003g0033 a0001c0001t0003g0035 a0001c0001t0003g0068 a0001c0001t0003g0072 a0001c0001t0005g0005 a0001c0001t0005g0012 a0001c0001t0005g0015 a0001c0001t0005g0020 a0001c0001t0006g0010 a0001c0001t0006g0038 a0001c0001t0007g0040 a0001c0001t0009g0006 a0001c0001t0009g0008 a0001c0001t0009g0023 a0001c0001t0014g0070 a0001c0001t0015g0002 a0001c0001t0016g0003 a0001c0001t0019g0076 a0001c0001t0020g0029 a0001c0001t0022g0031 a0001c0001t0023g0075 a0001c0001t0028g0021 a0001c0001t0029g0022 a0001c0001t0032g0016 a0001c0001t0034g0018 a0001c0001t0035g0019 a0001c0003t0008g0069 a0001c0003t0027g0009 a0001c0004t0012g0025 a0001c0004t0013g0024 a0001c0005t0030g0013 a0001c0007t0006g0027 a0002c0002t0024g0059 a0002c0002t0026g0011 a0002c0002t0031g0007 a0002c0010t0033g0014 a0003c0011t0007g0004 a0004c0006t0003g0030	46	76	0.6053	19	c.660 others(38): Show c.660+43243_660+43244insGGAATTATCCCCTCTCTCT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70185257	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	28	0.0357	19	c.660 others(38): Show c.660+50695_660+50713dupTTTTTTTTTTTTTTTTTTT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70699945	G G	GCCCCCCA others(12): Show GCCCCCCAGGACCTCTGCCA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03225.hp1 HG03139.hp1 HG03225.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0036 a0001c0001t0002 a0002c0002t0036	a0001c0001t0002g0047 a0002c0002t0036g0017 a0001c0001t0002g0047 a0002c0002t0036g0017	2	76	0.0263	19	c.742 others(36): Show c.742+1327_742+1345dupCCCCCAGGACCTCTGCCAC	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVEN_chr15_33861227_34044204	33871774	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0012 a0003c0003t0003g0012	1	166	0.0060	19	c.517 others(34): Show c.517-745_517-744insTTTTTTTTTTTTTTTTTTT	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	3/5			chr15	TogoVar
AVL9_chr7_32490489_32593726	32548144	C C	CTCTCTTT others(12): Show CTCTCTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0032 a0001c0009t0032	a0001c0009t0032g0310 a0001c0009t0032g0310	1	321	0.0031	19	c.301 others(34): Show c.301-702_301-701insCTCTTTTTTTTTTTTTTTT	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVL9_chr7_32490489_32593726	32548144	C C	CTCTTTTT others(12): Show CTCTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0093 a0001c0008t0093	a0001c0008t0093g0056 a0001c0008t0093g0056	1	321	0.0031	19	c.301 others(34): Show c.301-702_301-701insCTTTTTTTTTTTTTTTTTT	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVL9_chr7_32490489_32593726	32549941	A A	AAAAAAAG others(12): Show AAAAAAAGAAAAGGAATGGC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00408.hp1 others(192): Show HG00099.hp1 HG00099.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02055.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG06807.hp2 NA18940.hp2 NA18944.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp2 NA18963.hp2 NA18965.hp2 NA18966.hp2 NA18968.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18998.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19005.hp1 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19056.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp2 NA19078.hp1 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19084.hp2 NA19087.hp1 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0006 others(4): Show a0001c0001 a0001c0002 a0001c0006 a0001c0007 a0001c0011 a0002c0005 a0003c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(74): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0057 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0085 a0001c0001t0086 a0001c0001t0087 a0001c0001t0088 a0001c0001t0089 a0001c0001t0097 a0001c0001t0098 a0001c0001t0101 a0001c0001t0102 a0001c0001t0103 a0001c0001t0105 a0001c0001t0107 a0001c0001t0108 a0001c0001t0109 a0001c0001t0110 a0001c0001t0111 a0001c0001t0112 a0001c0001t0113 a0001c0001t0114 a0001c0001t0116 a0001c0002t0117 a0001c0006t0003 a0001c0006t0013 a0001c0007t0014 a0001c0011t0001 a0002c0005t0021 a0002c0005t0048 a0002c0005t0049 a0002c0005t0050 a0002c0005t0051 a0002c0005t0052 a0002c0005t0053 a0003c0010t0007 a0003c0010t0016	a0001c0001t0001g0014 a0001c0001t0001g0040 a0001c0001t0001g0051 others(192): Show a0001c0001t0001g0014 a0001c0001t0001g0040 a0001c0001t0001g0051 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0219 a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0232 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0019 a0001c0001t0003g0023 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0032 a0001c0001t0003g0037 a0001c0001t0003g0220 a0001c0001t0003g0226 a0001c0001t0003g0236 a0001c0001t0007g0199 a0001c0001t0007g0202 a0001c0001t0007g0230 a0001c0001t0007g0250 a0001c0001t0007g0254 a0001c0001t0007g0259 a0001c0001t0007g0274 a0001c0001t0007g0304 a0001c0001t0008g0162 a0001c0001t0008g0246 a0001c0001t0008g0257 a0001c0001t0008g0263 a0001c0001t0008g0273 a0001c0001t0008g0276 a0001c0001t0008g0278 a0001c0001t0008g0286 a0001c0001t0008g0295 a0001c0001t0010g0244 a0001c0001t0010g0266 a0001c0001t0010g0268 a0001c0001t0010g0270 a0001c0001t0010g0271 a0001c0001t0010g0284 a0001c0001t0010g0324 a0001c0001t0011g0256 a0001c0001t0011g0261 a0001c0001t0011g0267 a0001c0001t0011g0272 a0001c0001t0011g0303 a0001c0001t0011g0305 a0001c0001t0013g0011 a0001c0001t0013g0018 a0001c0001t0013g0036 a0001c0001t0013g0111 a0001c0001t0016g0008 a0001c0001t0016g0010 a0001c0001t0016g0188 a0001c0001t0016g0193 a0001c0001t0017g0012 a0001c0001t0017g0020 a0001c0001t0017g0031 a0001c0001t0017g0034 a0001c0001t0017g0035 a0001c0001t0019g0198 a0001c0001t0019g0201 a0001c0001t0019g0210 a0001c0001t0019g0234 a0001c0001t0020g0045 a0001c0001t0020g0046 a0001c0001t0020g0047 a0001c0001t0020g0048 a0001c0001t0022g0290 a0001c0001t0022g0293 a0001c0001t0022g0294 a0001c0001t0023g0110 a0001c0001t0023g0248 a0001c0001t0023g0275 a0001c0001t0026g0282 a0001c0001t0026g0283 a0001c0001t0026g0298 a0001c0001t0028g0249 a0001c0001t0028g0265 a0001c0001t0028g0277 a0001c0001t0029g0006 a0001c0001t0029g0007 a0001c0001t0029g0009 a0001c0001t0030g0203 a0001c0001t0030g0209 a0001c0001t0030g0221 a0001c0001t0031g0291 a0001c0001t0031g0292 a0001c0001t0035g0280 a0001c0001t0035g0288 a0001c0001t0036g0251 a0001c0001t0036g0262 a0001c0001t0037g0004 a0001c0001t0037g0281 a0001c0001t0040g0253 a0001c0001t0040g0269 a0001c0001t0041g0239 a0001c0001t0041g0241 a0001c0001t0042g0195 a0001c0001t0042g0222 a0001c0001t0043g0033 a0001c0001t0043g0038 a0001c0001t0044g0022 a0001c0001t0044g0233 a0001c0001t0045g0181 a0001c0001t0045g0225 a0001c0001t0046g0189 a0001c0001t0046g0216 a0001c0001t0047g0182 a0001c0001t0047g0204 a0001c0001t0057g0247 a0001c0001t0067g0264 a0001c0001t0068g0255 a0001c0001t0069g0306 a0001c0001t0070g0231 a0001c0001t0071g0252 a0001c0001t0072g0258 a0001c0001t0073g0287 a0001c0001t0074g0297 a0001c0001t0075g0289 a0001c0001t0076g0296 a0001c0001t0079g0312 a0001c0001t0080g0313 a0001c0001t0081g0004 a0001c0001t0085g0245 a0001c0001t0086g0174 a0001c0001t0087g0285 a0001c0001t0088g0279 a0001c0001t0089g0260 a0001c0001t0097g0186 a0001c0001t0098g0218 a0001c0001t0101g0017 a0001c0001t0102g0238 a0001c0001t0103g0240 a0001c0001t0105g0237 a0001c0001t0107g0005 a0001c0001t0108g0223 a0001c0001t0109g0190 a0001c0001t0110g0024 a0001c0001t0111g0052 a0001c0001t0112g0235 a0001c0001t0113g0229 a0001c0001t0114g0050 a0001c0001t0116g0027 a0001c0002t0117g0217 a0001c0006t0003g0013 a0001c0006t0003g0042 a0001c0006t0003g0043 a0001c0006t0003g0044 a0001c0006t0013g0041 a0001c0006t0013g0053 a0001c0007t0014g0057 a0001c0007t0014g0058 a0001c0007t0014g0299 a0001c0007t0014g0300 a0001c0007t0014g0301 a0001c0011t0001g0039 a0002c0005t0021g0154 a0002c0005t0021g0314 a0002c0005t0021g0319 a0002c0005t0048g0320 a0002c0005t0049g0315 a0002c0005t0050g0321 a0002c0005t0051g0317 a0002c0005t0052g0323 a0002c0005t0053g0318 a0003c0010t0007g0191 a0003c0010t0016g0213	195	326	0.5982	19	c.372 others(36): Show c.372+1024_372+1042dupAAAAAAGAAAAGGAATGGC	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVL9_chr7_32490489_32593726	32566180	A A	ATCTTTTT others(12): Show ATCTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00738.hp1 HG01981.hp1 others(24): Show HG00423.hp2 HG00738.hp1 HG01981.hp1 HG02145.hp2 HG02257.hp2 HG02280.hp2 HG02486.hp1 HG02622.hp2 HG02630.hp2 HG02738.hp2 HG02886.hp2 HG02922.hp2 HG02970.hp2 HG03195.hp1 HG03704.hp1 HG03710.hp2 HG03942.hp1 HG04115.hp1 NA18984.hp2 NA18993.hp1 NA19005.hp2 NA19030.hp2 NA19066.hp1 NA19077.hp1 NA19080.hp1 NA19084.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0006 others(3): Show a0001c0001 a0001c0004 a0001c0006 a0001c0007 a0002c0003 a0002c0012	a0001c0001t0001 a0001c0001t0013 a0001c0001t0016 others(18): Show a0001c0001t0001 a0001c0001t0013 a0001c0001t0016 a0001c0004t0015 a0001c0004t0025 a0001c0004t0039 a0001c0004t0077 a0001c0004t0078 a0001c0006t0003 a0001c0006t0013 a0001c0007t0014 a0002c0003t0005 a0002c0003t0009 a0002c0003t0012 a0002c0003t0018 a0002c0003t0024 a0002c0003t0027 a0002c0003t0034 a0002c0003t0061 a0002c0003t0106 a0002c0012t0005	a0001c0001t0001g0206 a0001c0001t0013g0036 a0001c0001t0016g0008 others(24): Show a0001c0001t0001g0206 a0001c0001t0013g0036 a0001c0001t0016g0008 a0001c0001t0016g0188 a0001c0004t0015g0322 a0001c0004t0025g0166 a0001c0004t0039g0125 a0001c0004t0077g0316 a0001c0004t0078g0126 a0001c0006t0003g0044 a0001c0006t0013g0041 a0001c0007t0014g0300 a0002c0003t0005g0116 a0002c0003t0005g0151 a0002c0003t0005g0170 a0002c0003t0009g0134 a0002c0003t0009g0169 a0002c0003t0012g0115 a0002c0003t0012g0130 a0002c0003t0018g0143 a0002c0003t0024g0148 a0002c0003t0024g0164 a0002c0003t0027g0145 a0002c0003t0034g0171 a0002c0003t0061g0163 a0002c0003t0106g0021 a0002c0012t0005g0157	27	84	0.3214	19	c.121 others(38): Show c.1216-3839_1216-3838insCTTTTTTTTTTTTTTTTTT	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVL9_chr7_32490489_32593726	32572801	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0032 a0001c0009t0032	a0001c0009t0032g0309 a0001c0009t0032g0309	1	55	0.0182	19	c.135 others(36): Show c.1351-382_1351-381insAAAAAAAAAAAAAAAAAAA	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVPI1_chr10_97672424_97692241	97678880	G G	GTGTGTGT others(12): Show GTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	171	0.0058	19	c.287 others(34): Show c.287+738_287+739insACACACACACACACACACA	AVPI1	ENSG00000119986.7	transcript	ENST00000370626.4	protein_coding	2/2			chr10	TogoVar
AVPI1_chr10_97672424_97692241	97679000	T T	TGTGTGTG others(12): Show TGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	441	0.0023	19	c.287 others(34): Show c.287+618_287+619insCACACACACACACACACAC	AVPI1	ENSG00000119986.7	transcript	ENST00000370626.4	protein_coding	2/2			chr10	TogoVar
AXDND1_chr1_179360971_179559735	179486139	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAACT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02145.hp1 HG02258.hp2 others(5): Show HG01884.hp1 HG02145.hp1 HG02258.hp2 HG02280.hp2 HG02615.hp1 HG02818.hp1 HG02965.hp1 HG03130.hp2	a0001 a0017 a0001 a0017	a0001c0002 a0001c0007 a0017c0028 a0001c0002 a0001c0007 a0017c0028	a0001c0002t0001 a0001c0007t0001 a0017c0028t0001 a0001c0002t0001 a0001c0007t0001 a0017c0028t0001	a0001c0002t0001g0165 a0001c0002t0001g0226 a0001c0002t0001g0235 others(5): Show a0001c0002t0001g0165 a0001c0002t0001g0226 a0001c0002t0001g0235 a0001c0007t0001g0185 a0001c0007t0001g0187 a0001c0007t0001g0200 a0001c0007t0001g0202 a0017c0028t0001g0188	8	137	0.0584	19	c.209 others(38): Show c.2091+2920_2091+2921insAAAAAAAAAAAAAAACTAA	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	18/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
AXIN2_chr17_65523563_65566648	65538667	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0167 a0002c0007t0001g0167	1	17	0.0588	19	c.106 others(36): Show c.1060-343_1060-325dupTTTTTTTTTTTTTTTTTTT	AXIN2	ENSG00000168646.14	transcript	ENST00000307078.10	protein_coding	4/10			chr17	TogoVar
AXL_chr19_41214223_41266766	41260298	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0224 a0001c0001t0056g0224	1	48	0.0208	19	c.40 others(28): Show c.407_*425dupTTTTTTTTTTTTTTTTTTT	AXL	ENSG00000167601.12	transcript	ENST00000301178.9	protein_coding	20/20	426	INFO_REALIGN_3_PRIME	chr19	TogoVar
B3GALT1_chr2_167288001_167879045	167808440	C C	CTGGTTGT others(12): Show CTGGTTGTTCCTTTCCATGT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02647.hp1 HG02683.hp2 others(3): Show HG01891.hp1 HG02647.hp1 HG02683.hp2 NA19030.hp2 NA19240.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0042	a0001c0001t0002g0049 a0001c0001t0003g0002 a0001c0001t0005g0024 others(3): Show a0001c0001t0002g0049 a0001c0001t0003g0002 a0001c0001t0005g0024 a0001c0001t0005g0101 a0001c0001t0008g0005 a0001c0001t0042g0045	6	116	0.0517	19	c.-35 others(40): Show c.-351-10231_-351-10230insGGTTGTTCCTTTCCATGTT	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
B3GAT1_chr11_134373508_134417242	134379781	A A	ACCTTGCC others(12): Show ACCTTGCCCACCACCCACCG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp1 others(13): Show HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00735.hp1 HG01433.hp1 HG01496.hp2 HG02109.hp2 HG02293.hp2 HG02572.hp2 HG02602.hp2 HG02818.hp1 HG02897.hp1 HG03209.hp2 HG03831.hp2 HG04204.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0013 a0001c0001t0036 others(3): Show a0001c0001t0008 a0001c0001t0013 a0001c0001t0036 a0001c0001t0043 a0001c0001t0044 a0001c0001t0052	a0001c0001t0008g0019 a0001c0001t0008g0023 a0001c0001t0008g0138 others(11): Show a0001c0001t0008g0019 a0001c0001t0008g0023 a0001c0001t0008g0138 a0001c0001t0008g0139 a0001c0001t0008g0153 a0001c0001t0008g0192 a0001c0001t0013g0287 a0001c0001t0013g0290 a0001c0001t0013g0291 a0001c0001t0013g0303 a0001c0001t0036g0061 a0001c0001t0043g0149 a0001c0001t0044g0073 a0001c0001t0052g0276	16	350	0.0457	19	c.96 others(28): Show c.962_*980dupCGGTGGGTGGTGGGCAAGG	B3GAT1	ENSG00000109956.13	transcript	ENST00000312527.9	protein_coding	6/6	2156		chr11	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(12): Show ATATATATATATATATATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0066 a0002c0002t0002g0066	1	39	0.0256	19	c.-38 others(30): Show c.-3878_-3877insTATATATATATATATATTT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(12): Show ATATATATTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG00741.hp2 HG01074.hp1 others(24): Show HG00735.hp1 HG00741.hp2 HG01074.hp1 HG01167.hp2 HG01175.hp2 HG01192.hp2 HG01256.hp1 HG01346.hp1 HG01981.hp2 HG01993.hp1 HG02074.hp1 HG02148.hp1 HG02486.hp1 HG02602.hp1 HG02735.hp2 HG03492.hp1 HG03710.hp2 HG03927.hp2 HG06807.hp2 NA18950.hp2 NA18952.hp1 NA18983.hp2 NA18990.hp1 NA19056.hp2 NA19058.hp1 NA19072.hp1 NA19079.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0005 a0001c0001 a0002c0002 a0003c0005	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(4): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0015 a0002c0002t0003 a0002c0002t0008 a0003c0005t0001	a0001c0001t0001g0002 a0001c0001t0001g0086 a0001c0001t0001g0087 others(24): Show a0001c0001t0001g0002 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0102 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0117 a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0235 a0001c0001t0006g0156 a0001c0001t0007g0114 a0001c0001t0007g0149 a0001c0001t0015g0103 a0002c0002t0003g0081 a0002c0002t0008g0098 a0003c0005t0001g0074 a0003c0005t0001g0075 a0003c0005t0001g0076	27	65	0.4154	19	c.-38 others(30): Show c.-3878_-3877insTATATATTTTTTTTTTTTT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATTT others(12): Show ATATATTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG01071.hp1 HG01346.hp2 others(2): Show HG00673.hp2 HG01071.hp1 HG01346.hp2 HG01496.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0002 a0001c0001t0001g0073 a0001c0001t0001g0078 others(2): Show a0001c0001t0001g0002 a0001c0001t0001g0073 a0001c0001t0001g0078 a0001c0001t0010g0111 a0001c0001t0010g0113	5	43	0.1163	19	c.-38 others(30): Show c.-3878_-3877insTATATTTTTTTTTTTTTTT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATTTTT others(12): Show ATATTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	39	0.0256	19	c.-38 others(30): Show c.-3878_-3877insTATTTTTTTTTTTTTTTTT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31316431	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0212 a0001c0001t0004g0212	1	231	0.0043	19	c.106 others(38): Show c.1065-1135_1065-1134insTATATATATATATATATAT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding	12/14			chr13	TogoVar

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