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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ATP9A_chr20_51591514_51773390	51658888	C C	CGGGGGGG others(14): Show CGGGGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03098.hp1 HG02717.hp2 HG03098.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0057 a0001c0005t0008 a0001c0003t0057 a0001c0005t0008	a0001c0003t0057g0087 a0001c0005t0008g0046 a0001c0003t0057g0087 a0001c0005t0008g0046	2	50	0.0400	21	c.129 others(40): Show c.1294-1739_1294-1738insCCCCCCCCCCCCCCCCCCCCC		ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	13/27						chr20	TogoVar
ATP9B_chr18_79064394_79383283	79071399	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02257.hp1 HG02451.hp1 others(3): Show HG01884.hp2 HG02257.hp1 HG02451.hp1 HG03130.hp2 HG03710.hp1 NA19091.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0009 others(1): Show a0001c0001 a0002c0002 a0005c0009 a0005c0016	a0001c0001t0001 a0002c0002t0002 a0005c0009t0005 others(1): Show a0001c0001t0001 a0002c0002t0002 a0005c0009t0005 a0005c0016t0001	a0001c0001t0001g0039 a0002c0002t0002g0256 a0005c0009t0005g0166 others(3): Show a0001c0001t0001g0039 a0002c0002t0002g0256 a0005c0009t0005g0166 a0005c0009t0005g0167 a0005c0009t0005g0168 a0005c0016t0001g0169	6	7	0.8571	21	c.119 others(38): Show c.119+1884_119+1885insTTTTTTTTTTTTTTTTTTTTT		ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	1/29					INFO_REALIGN_3_PRIME	chr18	TogoVar
ATPAF2_chr17_18013021_18044168	18019186	C C	CACACACA others(14): Show CACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	313	0.0032	21	c.733 others(36): Show c.733-501_733-500insTGTGTGTGTGTGTGTGTGTGT		ATPAF2	ENSG00000171953.16	transcript	ENST00000474627.8	protein_coding	7/7						chr17	TogoVar
ATRNL1_chr10_115088365_115953999	115094101	T T	TCCCCGCC others(14): Show TCCCCGCCCCCCTCGCGGCCTC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0001 a0001c0001t0014g0001	1	126	0.0079	21	c.293 others(34): Show c.293+69_293+89dupCTCGCGGCCTCCCCCGCCCCC		ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	1/28					INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115223929	A A	ATATATAT others(14): Show ATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0033 a0001c0006t0033	a0001c0006t0033g0035 a0001c0006t0033g0035	1	52	0.0192	21	c.153 others(40): Show c.1532+8050_1532+8051insATATATATATATATATTTTTT		ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	9/28					INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115381432	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03139.hp1 HG03239.hp2 others(1): Show HG02896.hp2 HG03139.hp1 HG03239.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0019 a0001c0001t0024 a0001c0001t0042 others(1): Show a0001c0001t0019 a0001c0001t0024 a0001c0001t0042 a0001c0013t0009	a0001c0001t0019g0019 a0001c0001t0024g0024 a0001c0001t0042g0099 others(1): Show a0001c0001t0019g0019 a0001c0001t0024g0024 a0001c0001t0042g0099 a0001c0013t0009g0079	4	37	0.1081	21	c.317 others(42): Show c.3176-13210_3176-13209insTTTTTTTTTTTTTTTTTTTTT		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(14): Show TTTTTTTTTTTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01123.hp1 HG00741.hp2 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0067 a0001c0001t0003g0064 a0001c0001t0001g0067 a0001c0001t0003g0064	2	91	0.0220	21	c.390 others(42): Show c.3903+10801_3903+10802insTTTTTTTTTTTTTTTTTTCTT		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(14): Show ACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01361.hp2 HG01891.hp1 others(14): Show HG01258.hp2 HG01361.hp2 HG01891.hp1 HG01943.hp2 HG02015.hp1 HG02132.hp2 HG02135.hp1 HG02258.hp1 HG02895.hp2 HG03239.hp2 HG03540.hp1 HG06807.hp1 HG06807.hp2 NA18995.hp2 NA19003.hp2 NA19011.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0011 a0001c0002t0001 a0001c0002t0004 a0001c0003t0037 a0001c0013t0009	a0001c0001t0001g0053 a0001c0001t0001g0066 a0001c0001t0001g0068 others(14): Show a0001c0001t0001g0053 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0002g0016 a0001c0001t0002g0113 a0001c0001t0003g0073 a0001c0001t0008g0081 a0001c0001t0011g0121 a0001c0002t0001g0046 a0001c0002t0001g0048 a0001c0002t0004g0037 a0001c0003t0037g0075 a0001c0013t0009g0079	17	60	0.2833	21	c.390 others(42): Show c.3904-45831_3904-45830insCACACACACACACACACACAC		ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	27/28						chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115856428	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01258.hp2 HG01952.hp2 others(7): Show HG01123.hp1 HG01258.hp2 HG01952.hp2 HG02132.hp2 HG02717.hp2 HG03486.hp2 HG04115.hp2 HG06807.hp2 NA19011.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009 a0001c0011	a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 a0001c0003t0001 a0001c0009t0005 a0001c0011t0002	a0001c0001t0001g0053 a0001c0001t0001g0067 a0001c0001t0001g0069 others(7): Show a0001c0001t0001g0053 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0109 a0001c0001t0008g0081 a0001c0002t0001g0046 a0001c0002t0001g0050 a0001c0003t0001g0086 a0001c0009t0005g0057 a0001c0011t0002g0118	10	16	0.6250	21	c.401 others(40): Show c.4018+8439_4018+8459dupAAAAAAAAAAAAAAAAAAAAA		ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	28/28					INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRN_chr20_3466018_3656118	3512107	A A	ATATATAT others(14): Show ATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0003 a0003	a0003c0018 a0003c0018	a0003c0018t0007 a0003c0018t0007	a0003c0018t0007g0200 a0003c0018t0007g0200	1	107	0.0093	21	c.411 others(40): Show c.411-23145_411-23144insATATATATATATATATTTTTT		ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	1/28					INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3597071	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp2 NA18966.hp1 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0006 a0001c0001t0002 a0001c0002t0006	a0001c0001t0002g0077 a0001c0002t0006g0053 a0001c0001t0002g0077 a0001c0002t0006g0053	2	53	0.0377	21	c.346 others(38): Show c.3469+645_3469+646insTATATATATATATATATAATA		ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	21/28					INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRX_chrX_77499880_77791216	77585583	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01952.hp1 NA19083.hp1 HG01952.hp1 NA19083.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0003 a0002c0002t0002 a0002c0002t0003	a0002c0002t0002g0051 a0002c0002t0003g0019 a0002c0002t0002g0051 a0002c0002t0003g0019	2	12	0.1667	21	c.621 others(40): Show c.6217+4230_6217+4250dupTTTTTTTTTTTTTTTTTTTTT		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	27/34						chrX	TogoVar
ATRX_chrX_77499880_77791216	77651217	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0126 a0001c0001t0002g0126	1	17	0.0588	21	c.455 others(38): Show c.4557+876_4557+896dupTTTTTTTTTTTTTTTTTTTTT		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	15/34						chrX	TogoVar
ATRX_chrX_77499880_77791216	77671165	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0083 a0001c0001t0003g0083	1	203	0.0049	21	c.380 others(40): Show c.3809+5060_3809+5061insATATATATATATATATATATA		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	10/34						chrX	TogoVar
ATR_chr3_142444235_142583733	142480865	T T	TGGGCATG others(14): Show TGGGCATGGGACCTTCAGAGCC	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0176 a0003c0003t0001g0176	1	320	0.0031	21	c.622 others(40): Show c.6221+4254_6221+4274dupGGCTCTGAAGGTCCCATGCCC		ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	36/46						chr3	TogoVar
ATR_chr3_142444235_142583733	142528880	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0021 a0001c0006t0001g0021	1	309	0.0032	21	c.394 others(40): Show c.3946-4682_3946-4681insTATATATATATATATATATAT		ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	21/46						chr3	TogoVar
ATR_chr3_142444235_142583733	142544452	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02523.hp2 HG01192.hp1 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0142 a0001c0001t0001g0087 a0001c0001t0001g0142	2	113	0.0177	21	c.335 others(40): Show c.3358-1716_3358-1696dupTTTTTTTTTTTTTTTTTTTTT		ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	16/46						chr3	TogoVar
ATXN10_chr22_45666834_45850307	45734869	A A	ATATTATT others(14): Show ATATTATTATTATTATTATTAT	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	114	0.0088	21	c.895 others(38): Show c.895-3851_895-3831dupATTATTATTATTATTATTATT		ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	7/11					INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN10_chr22_45666834_45850307	45751763	A A	AAAAAAAA others(14): Show AAAAAAAAAAAATAATAATAAT	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0108 a0001c0001t0002g0108	1	282	0.0035	21	c.117 others(42): Show c.1173+11227_1173+11228insAAAAAAAAATAATAATAATAA		ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN10_chr22_45666834_45850307	45751763	A A	AAAAAAAA others(14): Show AAAAAAAAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18964.hp1 NA18961.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0090 a0001c0001t0002g0109 a0001c0001t0002g0090 a0001c0001t0002g0109	2	283	0.0071	21	c.117 others(42): Show c.1173+11227_1173+11228insAAAAAATAATAATAATAATAA		ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN10_chr22_45666834_45850307	45751763	A A	AAAAAATA others(14): Show AAAAAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	282	0.0035	21	c.117 others(42): Show c.1173+11227_1173+11228insAAATAATAATAATAATAATAA		ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN1_chr6_16294112_16766460	16440649	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0071 a0003c0002t0001g0071	1	122	0.0082	21	c.-16 others(42): Show c.-161+45322_-161+45323insCTTTTTTTTTTTTTTTTTTTT		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7						chr6	TogoVar
ATXN2_chr12_111447214_111604315	111588991	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA18952.hp1 NA18974.hp2 others(8): Show HG02132.hp2 NA18952.hp1 NA18974.hp2 NA18980.hp1 NA18983.hp2 NA19011.hp1 NA19012.hp1 NA19058.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0031 a0002c0002t0001g0034 a0002c0002t0001g0036 others(8): Show a0002c0002t0001g0031 a0002c0002t0001g0034 a0002c0002t0001g0036 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0049 a0002c0002t0001g0055 a0002c0002t0001g0079	11	34	0.3235	21	c.251 others(38): Show c.251+9772_251+9792dupTTTTTTTTTTTTTTTTTTTTT		ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/24						chr12	TogoVar
ATXN3_chr14_92053552_92111582	92071009	C C	CGCTGCTG others(14): Show CGCTGCTGCTGCTGCTGCTGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00140.hp2 HG00735.hp1 HG02572.hp1 others(5): Show HG00140.hp2 HG00735.hp1 HG02572.hp1 HG02698.hp1 HG03239.hp2 HG04204.hp1 NA20752.hp1 NA20905.hp2	a0011 a0011	a0011c0012 a0011c0012	a0011c0012t0001 a0011c0012t0001	a0011c0012t0001g0041 a0011c0012t0001g0045 a0011c0012t0001g0046 others(5): Show a0011c0012t0001g0041 a0011c0012t0001g0045 a0011c0012t0001g0046 a0011c0012t0001g0048 a0011c0012t0001g0049 a0011c0012t0001g0051 a0011c0012t0001g0052 a0011c0012t0001g0054	8	293	0.0273	21	c.916 others(28): Show c.916_917insAGCAGCAGCAGCAGCAGCAGC	p.Gly others(33): Show p.Gly306delinsGluGlnGlnGlnGlnGlnGlnArg	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	10/11	946/6884	916/1086	306/361			chr14	TogoVar
ATXN3_chr14_92053552_92111582	92071010	C C	CCTGCTGC others(14): Show CCTGCTGCTGCTGCTGCTGCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03491.hp2 HG03492.hp2 HG03831.hp1 HG03491.hp2 HG03492.hp2 HG03831.hp1	a0011 a0016 a0011 a0016	a0011c0057 a0016c0042 a0011c0057 a0016c0042	a0011c0057t0046 a0016c0042t0005 a0011c0057t0046 a0016c0042t0005	a0011c0057t0046g0121 a0016c0042t0005g0298 a0016c0042t0005g0299 a0011c0057t0046g0121 a0016c0042t0005g0298 a0016c0042t0005g0299	3	104	0.0288	21	c.895 others(28): Show c.895_915dupCAGCAGCAGCAGCAGCAGCAG	p.Gln others(13): Show p.Gln299_Gln305dup	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	10/11	945/6884	915/1086	305/361			chr14	TogoVar
ATXN3_chr14_92053552_92111582	92071020	C C	CTGCTGCT others(14): Show CTGCTGCTGCTGCTGCTGCTGT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01109.hp1 HG02055.hp1 HG02723.hp2 others(1): Show HG01109.hp1 HG02055.hp1 HG02723.hp2 HG03471.hp1	a0016 a0016	a0016c0025 a0016c0025	a0016c0025t0026 a0016c0025t0027 a0016c0025t0026 a0016c0025t0027	a0016c0025t0026g0111 a0016c0025t0026g0114 a0016c0025t0027g0112 others(1): Show a0016c0025t0026g0111 a0016c0025t0026g0114 a0016c0025t0027g0112 a0016c0025t0027g0113	4	396	0.0101	21	c.905 others(28): Show c.905_906insACAGCAGCAGCAGCAGCAGCA	p.Gln others(34): Show p.Gln302_Gln303insGlnGlnGlnGlnGlnGlnGln	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	10/11	935/6884	905/1086	302/361			chr14	TogoVar
ATXN7L1_chr7_105599772_105881599	105619140	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0102 a0001c0001t0002g0102	1	11	0.0909	21	c.151 others(40): Show c.1517+1039_1517+1059dupAAAAAAAAAAAAAAAAAAAAA		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	9/11						chr7	TogoVar
AUTS2_chr7_69593475_70798506	69872834	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0026 a0002c0002t0026	a0002c0002t0026g0011 a0002c0002t0026g0011	1	24	0.0417	21	c.310 others(40): Show c.310-26446_310-26426dupTTTTTTTTTTTTTTTTTTTTT		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70108783	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0005 a0001c0001t0005g0005	1	14	0.0714	21	c.523 others(38): Show c.523-9338_523-9318dupAAAAAAAAAAAAAAAAAAAAA		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AVEN_chr15_33861227_34044204	33899460	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02109.hp2 HG03927.hp1 HG00741.hp1 HG02109.hp2 HG03927.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0178 a0001c0001t0001g0222 a0003c0003t0001g0262 a0001c0001t0001g0178 a0001c0001t0001g0222 a0003c0003t0001g0262	3	8	0.3750	21	c.446 others(40): Show c.446-23486_446-23466dupAAAAAAAAAAAAAAAAAAAAA		AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5						chr15	TogoVar
AVL9_chr7_32490489_32593726	32548151	C C	CTTTTGTT others(14): Show CTTTTGTTTTCTTTTTGTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00408.hp1 others(160): Show HG00099.hp1 HG00099.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp2 HG01952.hp1 HG01952.hp2 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 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp2 HG04204.hp1 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 NA19043.hp1 NA19043.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.hp2 NA19091.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0006 others(3): Show a0001c0001 a0001c0002 a0001c0006 a0001c0011 a0002c0005 a0003c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(61): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0040 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0085 a0001c0001t0086 a0001c0001t0087 a0001c0001t0097 a0001c0001t0098 a0001c0001t0101 a0001c0001t0107 a0001c0001t0108 a0001c0001t0109 a0001c0001t0110 a0001c0001t0112 a0001c0001t0113 a0001c0001t0114 a0001c0001t0116 a0001c0002t0117 a0001c0006t0003 a0001c0006t0013 a0001c0011t0001 a0002c0005t0021 a0002c0005t0048 a0002c0005t0049 a0002c0005t0051 a0002c0005t0052 a0002c0005t0053 a0003c0010t0007 a0003c0010t0016	a0001c0001t0001g0014 a0001c0001t0001g0051 a0001c0001t0001g0175 others(160): Show a0001c0001t0001g0014 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 a0001c0001t0003g0016 a0001c0001t0003g0019 a0001c0001t0003g0023 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0032 a0001c0001t0003g0037 a0001c0001t0003g0220 a0001c0001t0003g0226 a0001c0001t0003g0236 a0001c0001t0007g0199 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 a0001c0001t0026g0282 a0001c0001t0026g0283 a0001c0001t0026g0298 a0001c0001t0028g0249 a0001c0001t0028g0265 a0001c0001t0028g0277 a0001c0001t0029g0006 a0001c0001t0029g0009 a0001c0001t0030g0209 a0001c0001t0030g0221 a0001c0001t0035g0280 a0001c0001t0035g0288 a0001c0001t0036g0251 a0001c0001t0036g0262 a0001c0001t0037g0004 a0001c0001t0037g0281 a0001c0001t0040g0253 a0001c0001t0040g0269 a0001c0001t0042g0222 a0001c0001t0043g0038 a0001c0001t0044g0022 a0001c0001t0044g0233 a0001c0001t0045g0181 a0001c0001t0045g0225 a0001c0001t0046g0189 a0001c0001t0046g0216 a0001c0001t0047g0182 a0001c0001t0047g0204 a0001c0001t0067g0264 a0001c0001t0068g0255 a0001c0001t0069g0306 a0001c0001t0070g0231 a0001c0001t0071g0252 a0001c0001t0072g0258 a0001c0001t0073g0287 a0001c0001t0074g0297 a0001c0001t0075g0289 a0001c0001t0076g0296 a0001c0001t0079g0312 a0001c0001t0080g0313 a0001c0001t0081g0004 a0001c0001t0085g0245 a0001c0001t0086g0174 a0001c0001t0087g0285 a0001c0001t0097g0186 a0001c0001t0098g0218 a0001c0001t0101g0017 a0001c0001t0107g0005 a0001c0001t0108g0223 a0001c0001t0109g0190 a0001c0001t0110g0024 a0001c0001t0112g0235 a0001c0001t0113g0229 a0001c0001t0114g0050 a0001c0001t0116g0027 a0001c0002t0117g0217 a0001c0006t0003g0013 a0001c0006t0003g0042 a0001c0006t0003g0043 a0001c0006t0003g0044 a0001c0006t0013g0041 a0001c0011t0001g0039 a0002c0005t0021g0154 a0002c0005t0021g0314 a0002c0005t0021g0319 a0002c0005t0048g0320 a0002c0005t0049g0315 a0002c0005t0051g0317 a0002c0005t0052g0323 a0002c0005t0053g0318 a0003c0010t0007g0191 a0003c0010t0016g0213	163	283	0.5760	21	c.301 others(36): Show c.301-692_301-691insGTTTTCTTTTTGTTTTTTTTT		AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	3/15					INFO_REALIGN_3_PRIME	chr7	TogoVar
AVL9_chr7_32490489_32593726	32548154	T T	TTGTTTTC others(14): Show TTGTTTTCTTTTTGTTTTTTTG	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	328	0.0030	21	c.301 others(36): Show c.301-692_301-691insGTTTTCTTTTTGTTTTTTTGT		AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	3/15					INFO_REALIGN_3_PRIME	chr7	TogoVar
AVL9_chr7_32490489_32593726	32572801	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0032 a0001c0009t0032	a0001c0009t0032g0310 a0001c0009t0032g0310	1	55	0.0182	21	c.135 others(38): Show c.1351-382_1351-381insAAAAAAAAAAAAAAAAAAAAA		AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	11/15					INFO_REALIGN_3_PRIME	chr7	TogoVar
AVL9_chr7_32490489_32593726	32574721	T T	TTAAATAG others(14): Show TTAAATAGCTTGCTTATCCATC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00408.hp1 others(268): Show HG00099.hp1 HG00099.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.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 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18940.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp2 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18998.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19005.hp1 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp1 NA19087.hp1 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0004 others(9): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0011 a0002c0003 a0002c0005 a0002c0012 a0003c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(112): 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 a0001c0001t0104 a0001c0001t0105 a0001c0001t0107 a0001c0001t0108 a0001c0001t0109 a0001c0001t0110 a0001c0001t0111 a0001c0001t0112 a0001c0001t0113 a0001c0001t0114 a0001c0001t0115 a0001c0001t0116 a0001c0002t0117 a0001c0004t0015 a0001c0004t0025 a0001c0004t0034 a0001c0004t0039 a0001c0004t0065 a0001c0004t0077 a0001c0004t0078 a0001c0004t0084 a0001c0004t0092 a0001c0006t0003 a0001c0006t0013 a0001c0007t0014 a0001c0008t0093 a0001c0008t0094 a0001c0008t0095 a0001c0008t0096 a0001c0008t0118 a0001c0009t0032 a0001c0009t0056 a0001c0011t0001 a0002c0003t0005 a0002c0003t0009 a0002c0003t0012 a0002c0003t0018 a0002c0003t0024 a0002c0003t0027 a0002c0003t0034 a0002c0003t0038 a0002c0003t0061 a0002c0003t0062 a0002c0003t0063 a0002c0003t0064 a0002c0003t0066 a0002c0003t0082 a0002c0003t0083 a0002c0003t0090 a0002c0003t0091 a0002c0003t0099 a0002c0003t0106 a0002c0005t0021 a0002c0005t0048 a0002c0005t0049 a0002c0005t0050 a0002c0005t0051 a0002c0005t0052 a0002c0005t0053 a0002c0012t0005 a0003c0010t0007 a0003c0010t0016	a0001c0001t0001g0014 a0001c0001t0001g0040 a0001c0001t0001g0051 others(268): 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 a0001c0001t0104g0242 a0001c0001t0105g0237 a0001c0001t0107g0005 a0001c0001t0108g0223 a0001c0001t0109g0190 a0001c0001t0110g0024 a0001c0001t0111g0052 a0001c0001t0112g0235 a0001c0001t0113g0229 a0001c0001t0114g0050 a0001c0001t0115g0243 a0001c0001t0116g0027 a0001c0002t0117g0217 a0001c0004t0015g0118 a0001c0004t0015g0120 a0001c0004t0015g0122 a0001c0004t0015g0161 a0001c0004t0015g0322 a0001c0004t0025g0123 a0001c0004t0025g0166 a0001c0004t0025g0167 a0001c0004t0034g0119 a0001c0004t0039g0124 a0001c0004t0039g0125 a0001c0004t0065g0121 a0001c0004t0077g0316 a0001c0004t0078g0126 a0001c0004t0084g0113 a0001c0004t0092g0153 a0001c0006t0003g0013 a0001c0006t0003g0042 a0001c0006t0003g0043 a0001c0006t0003g0044 a0001c0006t0013g0041 a0001c0006t0013g0053 a0001c0007t0014g0057 a0001c0007t0014g0058 a0001c0007t0014g0299 a0001c0007t0014g0300 a0001c0007t0014g0301 a0001c0008t0093g0056 a0001c0008t0094g0054 a0001c0008t0095g0055 a0001c0008t0096g0308 a0001c0008t0118g0307 a0001c0009t0032g0309 a0001c0009t0032g0310 a0001c0009t0056g0311 a0001c0011t0001g0039 a0002c0003t0005g0116 a0002c0003t0005g0129 a0002c0003t0005g0135 a0002c0003t0005g0138 a0002c0003t0005g0140 a0002c0003t0005g0141 a0002c0003t0005g0142 a0002c0003t0005g0147 a0002c0003t0005g0151 a0002c0003t0005g0156 a0002c0003t0005g0170 a0002c0003t0005g0172 a0002c0003t0009g0003 a0002c0003t0009g0114 a0002c0003t0009g0132 a0002c0003t0009g0134 a0002c0003t0009g0137 a0002c0003t0009g0169 a0002c0003t0009g0325 a0002c0003t0012g0115 a0002c0003t0012g0127 a0002c0003t0012g0130 a0002c0003t0012g0155 a0002c0003t0012g0159 a0002c0003t0012g0160 a0002c0003t0018g0112 a0002c0003t0018g0139 a0002c0003t0018g0143 a0002c0003t0018g0168 a0002c0003t0024g0128 a0002c0003t0024g0148 a0002c0003t0024g0164 a0002c0003t0027g0117 a0002c0003t0027g0144 a0002c0003t0027g0145 a0002c0003t0034g0171 a0002c0003t0038g0149 a0002c0003t0038g0158 a0002c0003t0061g0163 a0002c0003t0062g0003 a0002c0003t0063g0146 a0002c0003t0064g0136 a0002c0003t0066g0173 a0002c0003t0082g0133 a0002c0003t0083g0131 a0002c0003t0090g0150 a0002c0003t0091g0165 a0002c0003t0099g0192 a0002c0003t0106g0021 a0002c0005t0021g0154 a0002c0005t0021g0314 a0002c0005t0021g0319 a0002c0005t0048g0320 a0002c0005t0049g0315 a0002c0005t0050g0321 a0002c0005t0051g0317 a0002c0005t0052g0323 a0002c0005t0053g0318 a0002c0012t0005g0157 a0003c0010t0007g0191 a0003c0010t0016g0213	271	328	0.8262	21	c.157 others(40): Show c.1571-1233_1571-1232insAAATAGCTTGCTTATCCATCT		AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr7	TogoVar
AXDND1_chr1_179360971_179559735	179486139	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAACT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00558.hp2 HG00621.hp1 others(22): Show HG00280.hp1 HG00558.hp2 HG00621.hp1 HG00639.hp1 HG00673.hp2 HG01074.hp2 HG01081.hp2 HG01361.hp1 HG01952.hp2 HG02040.hp2 HG02135.hp2 HG02165.hp1 HG02257.hp2 HG02698.hp1 HG03942.hp1 NA18965.hp1 NA18969.hp1 NA18980.hp1 NA18983.hp1 NA18983.hp2 NA18990.hp1 NA19066.hp2 NA19074.hp2 NA19077.hp2 NA20129.hp1	a0001 a0002 a0011 others(1): Show a0001 a0002 a0011 a0016	a0001c0002 a0001c0021 a0002c0019 others(2): Show a0001c0002 a0001c0021 a0002c0019 a0011c0014 a0016c0024	a0001c0002t0001 a0001c0021t0001 a0002c0019t0001 others(2): Show a0001c0002t0001 a0001c0021t0001 a0002c0019t0001 a0011c0014t0001 a0016c0024t0001	a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0090 others(22): Show a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0090 a0001c0002t0001g0101 a0001c0002t0001g0104 a0001c0002t0001g0119 a0001c0002t0001g0122 a0001c0002t0001g0132 a0001c0002t0001g0135 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0142 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0158 a0001c0002t0001g0290 a0001c0002t0001g0314 a0001c0002t0001g0320 a0001c0021t0001g0130 a0002c0019t0001g0112 a0011c0014t0001g0116 a0016c0024t0001g0145	25	154	0.1623	21	c.209 others(40): Show c.2091+2920_2091+2921insAAAAAAAAAAAAAAAAACTAA		AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	18/25					INFO_REALIGN_3_PRIME	chr1	TogoVar
AXIN1_chr16_282440_357723	286194	G G	GCTAGCCC others(14): Show GCTAGCCCGATCAGGACCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0302 a0001c0001t0001g0302	1	361	0.0028	21	c.19 others(32): Show c.1927_*1928insAGGTGGTCCTGATCGGGCTAG		AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding					1245		chr16	TogoVar
AXIN1_chr16_282440_357723	326372	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0008 a0005c0015t0008	a0005c0015t0008g0281 a0005c0015t0008g0281	1	158	0.0063	21	c.879 others(40): Show c.879-11690_879-11689insATATATATATTTTTTTTTTTT		AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding	2/10						chr16	TogoVar
AXIN2_chr17_65523563_65566648	65538667	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0188 a0001c0005t0001g0188	1	17	0.0588	21	c.106 others(38): Show c.1060-345_1060-325dupTTTTTTTTTTTTTTTTTTTTT		AXIN2	ENSG00000168646.14	transcript	ENST00000307078.10	protein_coding	4/10						chr17	TogoVar
AXIN2_chr17_65523563_65566648	65560411	C C	CGGAGGAG others(14): Show CGGAGGAGAGGCGGGGGGCGGG	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0196 a0001c0003t0001g0196	1	400	0.0025	21	c.-11 others(40): Show c.-117+1018_-117+1038dupCCCGCCCCCCGCCTCTCCTCC		AXIN2	ENSG00000168646.14	transcript	ENST00000307078.10	protein_coding	1/10						chr17	TogoVar
AZU1_chr19_822837_837018	833278	T T	TAATAAGA others(14): Show TAATAAGAAGAAGAAGAAGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	139	0.0072	21	c.14 others(32): Show c.1401_*1402insAATAAGAAGAAGAAGAAGAAG		AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding					1261		chr19	TogoVar
B3GALNT2_chr1_235442190_235509452	235474988	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp1 NA20300.hp1 HG00741.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0035 a0001c0002t0003 a0001c0001t0035 a0001c0002t0003	a0001c0001t0035g0091 a0001c0002t0003g0285 a0001c0001t0035g0091 a0001c0002t0003g0285	2	327	0.0061	21	c.652 others(38): Show c.652-4029_652-4028insTATATATATATATATATATAT		B3GALNT2	ENSG00000162885.14	transcript	ENST00000366600.8	protein_coding	5/11						chr1	TogoVar
B3GALT1_chr2_167288001_167879045	167745208	T T	TAATAAAG others(14): Show TAATAAAGTCTGATATAGAGTA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01106.hp1 HG01261.hp2 others(6): Show HG00741.hp1 HG01106.hp1 HG01261.hp2 HG01496.hp1 HG02132.hp2 HG02280.hp2 HG02683.hp1 HG03579.hp2 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0017 others(2): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0017 a0001c0001t0022 a0001c0001t0032	a0001c0001t0001g0023 a0001c0001t0001g0068 a0001c0001t0001g0085 others(6): Show a0001c0001t0001g0023 a0001c0001t0001g0068 a0001c0001t0001g0085 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0007g0102 a0001c0001t0017g0088 a0001c0001t0022g0047 a0001c0001t0032g0103	9	116	0.0776	21	c.-35 others(42): Show c.-351-73464_-351-73463insAATAAAGTCTGATATAGAGTA		B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	3/4						chr2	TogoVar
B3GALT6_chr1_1227237_1240041	1239451	G G	GGGACGGA others(14): Show GGGACGGATGGGCAATGGTGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	364	0.0027	21	c.61 others(32): Show c.6183_*6184insGGACGGATGGGCAATGGTGTC		B3GALT6	ENSG00000176022.7	transcript	ENST00000379198.5	protein_coding					4411		chr1	TogoVar
B3GAT1_chr11_134373508_134417242	134412108	G G	GGGAGCGG others(14): Show GGGAGCGGGGAGGGGGGGAGGT	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03688.hp2 HG03927.hp1 HG03688.hp2 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0033 a0001c0001t0025 a0001c0001t0033	a0001c0001t0025g0032 a0001c0001t0033g0046 a0001c0001t0025g0032 a0001c0001t0033g0046	2	75	0.0267	21	c.-58 others(30): Show c.-584_-583insACCTCCCCCCCTCCCCGCTCC		B3GAT1	ENSG00000109956.13	transcript	ENST00000312527.9	protein_coding	1/6				24450		chr11	TogoVar
B3GAT1_chr11_134373508_134417242	134412108	G G	GGGGAGCG others(14): Show GGGGAGCGGGGAGGGGGGAGGT	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18964.hp2 NA19081.hp1 NA18964.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0034 a0001c0001t0026 a0001c0001t0034	a0001c0001t0026g0033 a0001c0001t0034g0047 a0001c0001t0026g0033 a0001c0001t0034g0047	2	75	0.0267	21	c.-58 others(30): Show c.-584_-583insACCTCCCCCCTCCCCGCTCCC		B3GAT1	ENSG00000109956.13	transcript	ENST00000312527.9	protein_coding	1/6				24450		chr11	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(14): Show ATATATATATATATATTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0068 a0001c0001t0005g0068	1	39	0.0256	21	c.-38 others(32): Show c.-3878_-3877insTATATATATATATATTTTTTT		B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding					3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(14): Show ATATATATATTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp2 NA18998.hp2 HG02015.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0148 a0001c0001t0001g0109 a0001c0001t0001g0148	2	40	0.0500	21	c.-38 others(32): Show c.-3878_-3877insTATATATATTTTTTTTTTTTT		B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding					3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(14): Show ATATATATTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	39	0.0256	21	c.-38 others(32): Show c.-3878_-3877insTATATATTTTTTTTTTTTTTT		B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding					3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31253595	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0170 a0002c0002t0004g0170	1	137	0.0073	21	c.459 others(38): Show c.459+5635_459+5655dupAAAAAAAAAAAAAAAAAAAAA		B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding	6/14					INFO_REALIGN_3_PRIME	chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31316431	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0171 a0001c0001t0004g0171	1	231	0.0043	21	c.106 others(40): Show c.1065-1135_1065-1134insTATATATATATATATATATAT		B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding	12/14						chr13	TogoVar

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