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
ACSL6_chr5_131944973_132016658	131990123	AAGGCTGC others(16): Show AAGGCTGCTTAGGCTTCCTGAAAC	A A	frameshift_variant frameshift_variant	HIGH	NA18974.hp1 NA18974.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0208 a0004c0005t0002g0208	1	324	0.0031	-23	c.404 others(30): Show c.404_426delGTTTCAGGAAGCCTAAGCAGCCT	p.Gly others(5): Show p.Gly135fs	ACSL6	ENSG00000164398.15	transcript	ENST00000651883.2	protein_coding	4/21	531/6535	404/2169	135/722			chr5	TogoVar
ACTL6B_chr7_100638097_100661448	100652999	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA19056.hp1 HG00408.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	2	39	0.0513	-23	c.369 others(40): Show c.369+1997_369+2019delTTTTTTTTTTTTTTTTTTTTTTT		ACTL6B	ENSG00000077080.10	transcript	ENST00000160382.10	protein_coding	4/13						chr7	TogoVar
ACTL9_chr19_8692400_8703795	8692502	CAGAATGA others(16): Show CAGAATGAGACCCTGTTTCAGAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0000 a0003c0003t0001g0000	1	354	0.0028	-23	c.49 others(34): Show c.4926_*4948delTTTCTGAAACAGGGTCTCATTCT		ACTL9	ENSG00000181786.6	transcript	ENST00000324436.5	protein_coding					4897		chr19	TogoVar
ACTL9_chr19_8692400_8703795	8695189	ATCATGCG others(16): Show ATCATGCGGCTGCACTCCAGATGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0001 a0008c0013t0001	a0008c0013t0001g0000 a0008c0013t0001g0000	1	354	0.0028	-23	c.22 others(34): Show c.2239_*2261delCCATCTGGAGTGCAGCCGCATGA		ACTL9	ENSG00000181786.6	transcript	ENST00000324436.5	protein_coding					2210		chr19	TogoVar
ACTN1_chr14_68869128_68984302	68963184	CCTCCTCC others(16): Show CCTCCTCCAGGAAGTCCTACCTGT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01074.hp1 HG01099.hp2 others(3): Show HG00642.hp2 HG01074.hp1 HG01099.hp2 HG04115.hp2 HG04204.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0002t0004 a0001c0001t0001 a0001c0002t0003 a0001c0002t0004	a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 others(2): Show a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0002t0003g0003 a0001c0002t0004g0104	6	282	0.0213	-23	c.105 others(42): Show c.105+15745_105+15767delACAGGTAGGACTTCCTGGAGGAG		ACTN1	ENSG00000072110.16	transcript	ENST00000394419.9	protein_coding	1/21						chr14	TogoVar
ACTR3B_chr7_152754752_152860378	152778943	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	5	0.2000	-23	c.45- others(38): Show c.45-4224_45-4202delAAAAAAAAAAAAAAAAAAAAAAA		ACTR3B	ENSG00000133627.18	transcript	ENST00000256001.13	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr7	TogoVar
ACTR3B_chr7_152754752_152860378	152796860	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	10	0.1000	-23	c.101 others(40): Show c.101-3655_101-3633delTTTTTTTTTTTTTTTTTTTTTTT		ACTR3B	ENSG00000133627.18	transcript	ENST00000256001.13	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr7	TogoVar
ACVR1B_chr12_51946699_52002078	51993765	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0041 a0001c0001t0002g0041	1	25	0.0400	-23	c.139 others(40): Show c.1393-203_1393-181delAAAAAAAAAAAAAAAAAAAAAAA		ACVR1B	ENSG00000135503.13	transcript	ENST00000257963.9	protein_coding	8/8					INFO_REALIGN_3_PRIME	chr12	TogoVar
ACYP2_chr2_53966113_54310300	54102638	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0055 a0001c0002t0002g0055	1	6	0.1667	-23	c.278 others(42): Show c.278-32801_278-32779delAAAAAAAAAAAAAAAAAAAAAAA		ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr2	TogoVar
ADAD1_chr4_122374011_122434784	122378285	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02257.hp1 HG02109.hp2 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0072 a0001c0001t0002g0206 a0001c0001t0001g0072 a0001c0001t0002g0206	2	6	0.3333	-23	c.-91 others(32): Show c.-912_-890delAAAAAAAAAAAAAAAAAAAAAAA		ADAD1	ENSG00000164113.11	transcript	ENST00000296513.7	protein_coding					725		chr4	TogoVar
ADAM10_chr15_58583809_58754707	58593149	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00438.hp2 others(12): Show HG00423.hp2 HG00438.hp1 HG00438.hp2 HG01256.hp2 HG01258.hp2 HG01346.hp2 HG02615.hp1 HG03017.hp2 HG03195.hp2 NA18940.hp2 NA18964.hp2 NA19012.hp2 NA19064.hp2 NA19068.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0001t0043 a0001c0001t0046 others(5): Show a0001c0001t0010 a0001c0001t0043 a0001c0001t0046 a0001c0001t0070 a0001c0001t0095 a0001c0001t0096 a0001c0001t0100 a0001c0002t0010	a0001c0001t0010g0059 a0001c0001t0010g0113 a0001c0001t0010g0141 others(12): Show a0001c0001t0010g0059 a0001c0001t0010g0113 a0001c0001t0010g0141 a0001c0001t0010g0155 a0001c0001t0010g0159 a0001c0001t0043g0139 a0001c0001t0043g0187 a0001c0001t0046g0085 a0001c0001t0046g0086 a0001c0001t0070g0248 a0001c0001t0095g0277 a0001c0001t0096g0019 a0001c0001t0100g0142 a0001c0002t0010g0115 a0001c0002t0010g0116	15	19	0.7895	-23	c.43 others(34): Show c.4375_*4397delAAAAAAAAAAAAAAAAAAAAAAA		ADAM10	ENSG00000137845.15	transcript	ENST00000260408.8	protein_coding	16/16				4375		chr15	TogoVar
ADAM10_chr15_58583809_58754707	58655696	GTATATAT others(16): Show GTATATATATATATAGTATATATA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00673.hp1 HG00735.hp2 others(17): Show HG00438.hp1 HG00673.hp1 HG00735.hp2 HG01993.hp2 HG02080.hp1 HG02135.hp2 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG04184.hp2 NA18943.hp2 NA18944.hp1 NA18950.hp1 NA18955.hp2 NA18971.hp2 NA18995.hp1 NA19007.hp1 NA19060.hp1 NA19088.hp1 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0044 others(1): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0044 a0001c0001t0099	a0001c0001t0001g0007 a0001c0001t0001g0056 a0001c0001t0001g0057 others(17): Show a0001c0001t0001g0007 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0263 a0001c0001t0001g0340 a0001c0001t0010g0059 a0001c0001t0044g0067 a0001c0001t0099g0070	20	214	0.0935	-23	c.585 others(40): Show c.585+9378_585+9400delTATATATACTATATATATATATA		ADAM10	ENSG00000137845.15	transcript	ENST00000260408.8	protein_coding	5/15						chr15	TogoVar
ADAM12_chr10_126007391_126393477	126086665	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03209.hp2 HG02647.hp2 HG03209.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0008 a0002c0006t0010 a0002c0006t0008 a0002c0006t0010	a0002c0006t0008g0101 a0002c0006t0010g0021 a0002c0006t0008g0101 a0002c0006t0010g0021	2	250	0.0080	-23	c.114 others(42): Show c.1145+7297_1145+7319delATATATATTTTTTTTTTTTTTTT		ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	11/22						chr10	TogoVar
ADAM12_chr10_126007391_126393477	126086667	AAAAAAAA others(16): Show AAAAAAAAAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02074.hp2 HG02300.hp2 others(16): Show HG01099.hp2 HG02074.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02723.hp1 HG02723.hp2 HG02895.hp2 HG02897.hp1 HG03130.hp2 HG03139.hp1 HG03490.hp2 HG03491.hp1 HG04199.hp2 NA18946.hp2 NA18959.hp2 NA18966.hp2 NA18983.hp1 NA19065.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0006 a0011	a0001c0002 a0001c0004 a0001c0008 others(7): Show a0001c0002 a0001c0004 a0001c0008 a0001c0014 a0001c0021 a0002c0001 a0002c0006 a0004c0047 a0006c0045 a0011c0041	a0001c0002t0001 a0001c0002t0024 a0001c0004t0002 others(14): Show a0001c0002t0001 a0001c0002t0024 a0001c0004t0002 a0001c0004t0006 a0001c0004t0020 a0001c0004t0035 a0001c0008t0001 a0001c0014t0004 a0001c0014t0005 a0001c0021t0017 a0002c0001t0001 a0002c0001t0009 a0002c0006t0001 a0002c0006t0006 a0004c0047t0006 a0006c0045t0019 a0011c0041t0006	a0001c0002t0001g0132 a0001c0002t0024g0001 a0001c0004t0002g0232 others(16): Show a0001c0002t0001g0132 a0001c0002t0024g0001 a0001c0004t0002g0232 a0001c0004t0006g0239 a0001c0004t0020g0195 a0001c0004t0035g0243 a0001c0008t0001g0105 a0001c0014t0004g0229 a0001c0014t0005g0236 a0001c0021t0017g0109 a0001c0021t0017g0110 a0002c0001t0001g0157 a0002c0001t0009g0118 a0002c0006t0001g0050 a0002c0006t0006g0171 a0002c0006t0006g0177 a0004c0047t0006g0165 a0006c0045t0019g0115 a0011c0041t0006g0018	19	250	0.0760	-23	c.114 others(42): Show c.1145+7295_1145+7317delATATATATATTTTTTTTTTTTTT		ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	11/22						chr10	TogoVar
ADAM12_chr10_126007391_126393477	126113688	ATATATAT others(16): Show ATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02717.hp2 HG02145.hp2 HG02717.hp2	a0001 a0003 a0001 a0003	a0001c0012 a0003c0027 a0001c0012 a0003c0027	a0001c0012t0012 a0003c0027t0010 a0001c0012t0012 a0003c0027t0010	a0001c0012t0012g0122 a0003c0027t0010g0204 a0001c0012t0012g0122 a0003c0027t0010g0204	2	186	0.0108	-23	c.604 others(40): Show c.604-3871_604-3849delATATATATATATATATATATATA		ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	6/22						chr10	TogoVar
ADAM12_chr10_126007391_126393477	126374353	AATCCACA others(16): Show AATCCACAGTAATACAGAATCAGC	A A	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02145.hp1 HG02647.hp2 others(1): Show HG01175.hp1 HG02145.hp1 HG02647.hp2 HG03195.hp2	a0002 a0002	a0002c0001 a0002c0006 a0002c0001 a0002c0006	a0002c0001t0008 a0002c0001t0014 a0002c0006t0007 others(1): Show a0002c0001t0008 a0002c0001t0014 a0002c0006t0007 a0002c0006t0008	a0002c0001t0008g0103 a0002c0001t0014g0102 a0002c0006t0007g0100 others(1): Show a0002c0001t0008g0103 a0002c0001t0014g0102 a0002c0006t0007g0100 a0002c0006t0008g0101	4	250	0.0160	-23	c.88+ others(40): Show c.88+13682_88+13704delGCTGATTCTGTATTACTGTGGAT		ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	1/22						chr10	TogoVar
ADAMTS14_chr10_70667506_70767441	70765892	TTCATGGC others(16): Show TTCATGGCAGCCCCTCCCATCACA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0013 a0013	a0013c0020 a0013c0020	a0013c0020t0007 a0013c0020t0007	a0013c0020t0007g0070 a0013c0020t0007g0070	1	352	0.0028	-23	c.50 others(34): Show c.5040_*5062delTCATGGCAGCCCCTCCCATCACA		ADAMTS14	ENSG00000138316.11	transcript	ENST00000373207.2	protein_coding					3452		chr10	TogoVar
ADAMTS16_chr5_5135330_5325304	5299346	TAGGCAGC others(16): Show TAGGCAGCAGCTCGGGCCCAGACC	T T	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01256.hp1 HG01192.hp1 HG01256.hp1	a0001 a0002 a0001 a0002	a0001c0023 a0002c0002 a0001c0023 a0002c0002	a0001c0023t0001 a0002c0002t0001 a0001c0023t0001 a0002c0002t0001	a0001c0023t0001g0228 a0002c0002t0001g0273 a0001c0023t0001g0228 a0002c0002t0001g0273	2	330	0.0061	-23	c.279 others(42): Show c.2790-3918_2790-3896delCAGCAGCTCGGGCCCAGACCAGG		ADAMTS16	ENSG00000145536.15	transcript	ENST00000274181.7	protein_coding	18/22					INFO_REALIGN_3_PRIME	chr5	TogoVar
ADAMTS17_chr15_99966437_100346975	99977377	TATATATA others(16): Show TATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0001 a0003c0009t0001	a0003c0009t0001g0126 a0003c0009t0001g0126	1	211	0.0047	-23	c.295 others(42): Show c.2950-1178_2950-1156delTATATATATATATATATATATAT		ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	20/21						chr15	TogoVar
ADAMTS17_chr15_99966437_100346975	100190477	CTTCCAGA others(16): Show CTTCCAGAGGCCACAGGTTGGGTT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0163 a0004c0008t0001g0163	1	226	0.0044	-23	c.118 others(42): Show c.1181+8818_1181+8840delAACCCAACCTGTGGCCTCTGGAA		ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	8/21						chr15	TogoVar
ADAMTS17_chr15_99966437_100346975	100270108	CAGCCATT others(16): Show CAGCCATTTCTTCTGTGACTCTGG	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01358.hp2 HG02055.hp1 others(10): Show HG01243.hp1 HG01358.hp2 HG02055.hp1 HG02630.hp2 HG02895.hp2 HG02970.hp2 HG03209.hp2 HG03225.hp2 HG03654.hp2 HG03704.hp2 NA18906.hp1 NA20805.hp1 NA20805.hp2	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0009	a0001c0005 a0001c0007 a0001c0021 others(7): Show a0001c0005 a0001c0007 a0001c0021 a0001c0025 a0001c0033 a0001c0042 a0003c0006 a0003c0009 a0005c0026 a0009c0027	a0001c0005t0004 a0001c0007t0006 a0001c0021t0006 others(10): Show a0001c0005t0004 a0001c0007t0006 a0001c0021t0006 a0001c0021t0016 a0001c0025t0008 a0001c0033t0015 a0001c0042t0051 a0003c0006t0003 a0003c0006t0045 a0003c0009t0001 a0003c0009t0003 a0005c0026t0005 a0009c0027t0001	a0001c0005t0004g0193 a0001c0007t0006g0202 a0001c0021t0006g0171 others(10): Show a0001c0005t0004g0193 a0001c0007t0006g0202 a0001c0021t0006g0171 a0001c0021t0016g0113 a0001c0025t0008g0208 a0001c0033t0015g0178 a0001c0042t0051g0124 a0003c0006t0003g0027 a0003c0006t0045g0115 a0003c0009t0001g0126 a0003c0009t0003g0052 a0005c0026t0005g0195 a0009c0027t0001g0196	13	226	0.0575	-23	c.790 others(40): Show c.790-7696_790-7674delCCAGAGTCACAGAAGAAATGGCT		ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	4/21						chr15	TogoVar
ADAMTS17_chr15_99966437_100346975	100270171	GCTCTGGA others(16): Show GCTCTGGAGCCATTTCTTCTGTGA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00642.hp1 others(9): Show HG00140.hp2 HG00323.hp2 HG00642.hp1 HG01106.hp2 HG01255.hp1 HG01361.hp2 HG03491.hp1 HG03704.hp1 HG03710.hp2 NA18984.hp1 NA18988.hp2 NA19070.hp2	a0001 a0003 a0013 a0001 a0003 a0013	a0001c0002 a0001c0007 a0003c0009 others(3): Show a0001c0002 a0001c0007 a0003c0009 a0003c0015 a0003c0041 a0013c0043	a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 others(9): Show a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0009 a0001c0002t0019 a0001c0007t0007 a0003c0009t0001 a0003c0015t0001 a0003c0015t0003 a0003c0015t0046 a0003c0041t0001 a0013c0043t0003	a0001c0002t0002g0063 a0001c0002t0004g0148 a0001c0002t0005g0081 others(9): Show a0001c0002t0002g0063 a0001c0002t0004g0148 a0001c0002t0005g0081 a0001c0002t0009g0028 a0001c0002t0019g0026 a0001c0007t0007g0066 a0003c0009t0001g0064 a0003c0015t0001g0159 a0003c0015t0003g0044 a0003c0015t0046g0065 a0003c0041t0001g0102 a0013c0043t0003g0023	12	226	0.0531	-23	c.790 others(40): Show c.790-7759_790-7737delTCACAGAAGAAATGGCTCCAGAG		ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	4/21						chr15	TogoVar
ADAMTS17_chr15_99966437_100346975	100310723	GGCTTTAC others(16): Show GGCTTTACTGGGCTTTTCCCCTAA	G G	intron_variant intron_variant	MODIFIER	HG03704.hp1 NA18984.hp1 NA19043.hp1 HG03704.hp1 NA18984.hp1 NA19043.hp1	a0001 a0013 a0001 a0013	a0001c0002 a0013c0043 a0001c0002 a0013c0043	a0001c0002t0005 a0001c0002t0012 a0013c0043t0003 a0001c0002t0005 a0001c0002t0012 a0013c0043t0003	a0001c0002t0005g0081 a0001c0002t0012g0106 a0013c0043t0003g0023 a0001c0002t0005g0081 a0001c0002t0012g0106 a0013c0043t0003g0023	3	226	0.0133	-23	c.616 others(42): Show c.616+20143_616+20165delTTAGGGGAAAAGCCCAGTAAAGC		ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	3/21						chr15	TogoVar
ADAMTS20_chr12_43348866_43557203	43514560	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01106.hp2 HG01109.hp1 others(4): Show HG00140.hp2 HG01106.hp2 HG01109.hp1 HG02132.hp1 HG02293.hp2 HG04184.hp1 NA18522.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0001c0003 a0003c0006 a0001c0002 a0001c0003 a0003c0006	a0001c0002t0001 a0001c0003t0001 a0003c0006t0001 a0001c0002t0001 a0001c0003t0001 a0003c0006t0001	a0001c0002t0001g0135 a0001c0002t0001g0138 a0001c0002t0001g0139 others(4): Show a0001c0002t0001g0135 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0003t0001g0183 a0003c0006t0001g0136 a0003c0006t0001g0137	7	10	0.7000	-23	c.614 others(42): Show c.614-12178_614-12156delTTTTTTTTTTTTTTTTTTTTTTT		ADAMTS20	ENSG00000173157.18	transcript	ENST00000389420.8	protein_coding	3/38						chr12	TogoVar
ADAMTS2_chr5_179105853_179350461	179217834	GCAGACAG others(16): Show GCAGACAGGCACACTCACTAGGTA	G G	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0069 a0001c0069	a0001c0069t0002 a0001c0069t0002	a0001c0069t0002g0044 a0001c0069t0002g0044	1	274	0.0036	-23	c.689 others(42): Show c.689-10142_689-10120delTACCTAGTGAGTGTGCCTGTCTG		ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	3/21						chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179278075	CCCCCCGA others(16): Show CCCCCCGAGACCAAAGGCTGACCA	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01106.hp1 HG03490.hp1 others(2): Show HG00735.hp2 HG01106.hp1 HG03490.hp1 HG03492.hp2 NA20805.hp2	a0004 a0007 a0011 a0004 a0007 a0011	a0004c0033 a0004c0077 a0007c0026 others(1): Show a0004c0033 a0004c0077 a0007c0026 a0011c0054	a0004c0033t0003 a0004c0077t0017 a0007c0026t0003 others(1): Show a0004c0033t0003 a0004c0077t0017 a0007c0026t0003 a0011c0054t0001	a0004c0033t0003g0140 a0004c0077t0017g0135 a0007c0026t0003g0137 others(2): Show a0004c0033t0003g0140 a0004c0077t0017g0135 a0007c0026t0003g0137 a0007c0026t0003g0138 a0011c0054t0001g0026	5	269	0.0186	-23	c.535 others(40): Show c.535-5034_535-5012delTGGTCAGCCTTTGGTCTCGGGGG		ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21						chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179278086	CAAAGGCT others(16): Show CAAAGGCTGACCACCCCCGAGACA	C C	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0023 a0023	a0023c0082 a0023c0082	a0023c0082t0002 a0023c0082t0002	a0023c0082t0002g0197 a0023c0082t0002g0197	1	273	0.0037	-23	c.535 others(40): Show c.535-5045_535-5023delTGTCTCGGGGGTGGTCAGCCTTT		ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21						chr5	TogoVar
ADAMTS6_chr5_65143738_65486920	65146625	CTTCTTTT others(16): Show CTTCTTTTTCTACCTGAACAAGAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02451.hp2 NA19043.hp2 others(2): Show HG01884.hp1 HG02451.hp2 NA19043.hp2 NA19240.hp2 NA21309.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0007 a0001c0001 a0007c0007	a0001c0001t0002 a0007c0007t0002 a0001c0001t0002 a0007c0007t0002	a0001c0001t0002g0078 a0001c0001t0002g0170 a0001c0001t0002g0171 others(2): Show a0001c0001t0002g0078 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0173 a0007c0007t0002g0106	5	202	0.0248	-23	c.51 others(34): Show c.5188_*5210delATCTTGTTCAGGTAGAAAAAGAA		ADAMTS6	ENSG00000049192.15	transcript	ENST00000381055.8	protein_coding					2112		chr5	TogoVar
ADAMTS6_chr5_65143738_65486920	65230831	ATATATAT others(16): Show ATATATATATAATACATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02976.hp2 HG03139.hp2 HG02630.hp1 HG02976.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0019 a0001c0001t0002g0072 a0001c0001t0002g0172 a0001c0001t0001g0019 a0001c0001t0002g0072 a0001c0001t0002g0172	3	202	0.0149	-23	c.193 others(42): Show c.1934-4635_1934-4613delCATATATATGTATTATATATATA		ADAMTS6	ENSG00000049192.15	transcript	ENST00000381055.8	protein_coding	15/24						chr5	TogoVar
ADAMTS6_chr5_65143738_65486920	65398805	AAAGAAAG others(16): Show AAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0192 a0001c0001t0004g0192	1	174	0.0057	-23	c.107 others(44): Show c.1073+52647_1073+52669delCTTTCTTTCTTTCTTTCTTTCTT		ADAMTS6	ENSG00000049192.15	transcript	ENST00000381055.8	protein_coding	7/24						chr5	TogoVar
ADAMTSL3_chr15_83649123_84044842	83906615	CCACACAC others(16): Show CCACACACCACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01243.hp2 HG02486.hp1 others(8): Show HG00738.hp2 HG01243.hp2 HG02486.hp1 HG02723.hp2 HG02809.hp1 HG02886.hp2 HG03195.hp2 HG03486.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2	a0001 a0002 a0013 others(1): Show a0001 a0002 a0013 a0032	a0001c0058 a0002c0002 a0002c0008 others(4): Show a0001c0058 a0002c0002 a0002c0008 a0002c0016 a0002c0039 a0013c0034 a0032c0050	a0001c0058t0001 a0002c0002t0001 a0002c0008t0001 others(4): Show a0001c0058t0001 a0002c0002t0001 a0002c0008t0001 a0002c0016t0001 a0002c0039t0001 a0013c0034t0001 a0032c0050t0001	a0001c0058t0001g0032 a0002c0002t0001g0159 a0002c0008t0001g0161 others(8): Show a0001c0058t0001g0032 a0002c0002t0001g0159 a0002c0008t0001g0161 a0002c0008t0001g0176 a0002c0008t0001g0177 a0002c0016t0001g0172 a0002c0016t0001g0173 a0002c0016t0001g0174 a0002c0039t0001g0058 a0013c0034t0001g0055 a0032c0050t0001g0003	11	85	0.1294	-23	c.170 others(42): Show c.1701-6469_1701-6447delCACACACACACACACACACACAC		ADAMTSL3	ENSG00000156218.13	transcript	ENST00000286744.10	protein_coding	15/29					INFO_REALIGN_3_PRIME	chr15	TogoVar
ADAP1_chr7_892900_959680	918912	GGAGTTGG others(16): Show GGAGTTGGGGACTGCTGGGGGGCA	G G	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02280.hp1 HG03579.hp2 others(2): Show HG01993.hp2 HG02280.hp1 HG03579.hp2 HG03654.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0004 a0001c0001t0001 a0001c0003t0004	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0008 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0003t0004g0011	5	12	0.4167	-23	c.388 others(40): Show c.388+1033_388+1055delTGCCCCCCAGCAGTCCCCAACTC		ADAP1	ENSG00000105963.15	transcript	ENST00000265846.10	protein_coding	4/10						chr7	TogoVar
ADAP1_chr7_892900_959680	943154	GAGGAGGA others(16): Show GAGGAGGAGGAAGGGAGAGAGGAT	G G	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0005	1	12	0.0833	-23	c.83- others(38): Show c.83-7672_83-7650delATCCTCTCTCCCTTCCTCCTCCT		ADAP1	ENSG00000105963.15	transcript	ENST00000265846.10	protein_coding	1/10						chr7	TogoVar
ADARB1_chr21_45069580_45231560	45191868	ATATATAT others(16): Show ATATATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0076 a0001c0002t0076	a0001c0002t0076g0221 a0001c0002t0076g0221	1	257	0.0039	-23	c.156 others(42): Show c.1565+6779_1565+6801delATATATATATATTTTTTTTTTTT		ADARB1	ENSG00000197381.18	transcript	ENST00000348831.9	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr21	TogoVar
ADARB2_chr10_1172313_1742525	1236648	CCCCTCTG others(16): Show CCCCTCTGCCTCCCGGTGTTTACT	C C	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0012 a0002c0002t0005g0012	1	106	0.0094	-23	c.136 others(42): Show c.1362-2826_1362-2804delAGTAAACACCGGGAGGCAGAGGG		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1237188	CCGGGTGT others(16): Show CCGGGTGTTAACTCCCCTCTCCCT	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0029 a0002c0004t0005g0029	1	106	0.0094	-23	c.136 others(42): Show c.1362-3366_1362-3344delAGGGAGAGGGGAGTTAACACCCG		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1237393	CCCCTCTC others(16): Show CCCCTCTCCCTCCCGGTGTTTACT	C C	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0020 a0007c0013t0020	a0007c0013t0020g0037 a0007c0013t0020g0037	1	106	0.0094	-23	c.136 others(42): Show c.1362-3571_1362-3549delAGTAAACACCGGGAGGGAGAGGG		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1237921	CCCCTCTC others(16): Show CCCCTCTCCCTCCCGGTGTTTACT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0044 a0002c0002t0044	a0002c0002t0044g0049 a0002c0002t0044g0049	1	106	0.0094	-23	c.136 others(42): Show c.1362-4099_1362-4077delAGTAAACACCGGGAGGGAGAGGG		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1238586	CCCCTCTG others(16): Show CCCCTCTGCCTCCCGGTGTTTACT	C C	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0018 a0002c0002t0006g0018	1	106	0.0094	-23	c.136 others(42): Show c.1361+3522_1361+3544delAGTAAACACCGGGAGGCAGAGGG		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1239405	CCCCTCTC others(16): Show CCCCTCTCCCTCCCGGTGTTTACT	C C	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0085 a0001c0001t0003g0085	1	105	0.0095	-23	c.136 others(42): Show c.1361+2703_1361+2725delAGTAAACACCGGGAGGGAGAGGG		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1239717	CCCCCCTC others(16): Show CCCCCCTCCCTCCCGGTGTTCACT	C C	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0098 a0001c0001t0003g0098	1	106	0.0094	-23	c.136 others(42): Show c.1361+2391_1361+2413delAGTGAACACCGGGAGGGAGGGGG		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1239813	CCCCTCTC others(16): Show CCCCTCTCCCTCCCGGTGTTTACT	C C	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0002 a0002c0002t0007g0002	1	102	0.0098	-23	c.136 others(42): Show c.1361+2295_1361+2317delAGTAAACACCGGGAGGGAGAGGG		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1254170	CATGGTGG others(16): Show CATGGTGGGCTCTGTGGTTAGGAT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01243.hp2 HG02109.hp1 others(8): Show HG01081.hp1 HG01243.hp2 HG02109.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02886.hp1 HG03209.hp2 HG03540.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0007 a0001c0001 a0001c0003 a0001c0007	a0001c0001t0001 a0001c0001t0019 a0001c0001t0022 others(8): Show a0001c0001t0001 a0001c0001t0019 a0001c0001t0022 a0001c0001t0023 a0001c0001t0029 a0001c0001t0030 a0001c0001t0049 a0001c0001t0052 a0001c0003t0001 a0001c0003t0060 a0001c0007t0066	a0001c0001t0001g0045 a0001c0001t0019g0038 a0001c0001t0022g0015 others(8): Show a0001c0001t0001g0045 a0001c0001t0019g0038 a0001c0001t0022g0015 a0001c0001t0023g0023 a0001c0001t0029g0031 a0001c0001t0030g0034 a0001c0001t0049g0040 a0001c0001t0052g0062 a0001c0003t0001g0070 a0001c0003t0060g0104 a0001c0007t0066g0105	11	106	0.1038	-23	c.119 others(44): Show c.1193-11894_1193-11872delATCCTAACCACAGAGCCCACCAT		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	4/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1298720	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA18522.hp2 NA18982.hp2 others(1): Show HG03540.hp1 NA18522.hp2 NA18982.hp2 NA21309.hp1	a0001 a0007 a0011 a0001 a0007 a0011	a0001c0001 a0001c0003 a0007c0013 others(1): Show a0001c0001 a0001c0003 a0007c0013 a0011c0011	a0001c0001t0003 a0001c0003t0009 a0007c0013t0020 others(1): Show a0001c0001t0003 a0001c0003t0009 a0007c0013t0020 a0011c0011t0034	a0001c0001t0003g0098 a0001c0003t0009g0046 a0007c0013t0020g0037 others(1): Show a0001c0001t0003g0098 a0001c0003t0009g0046 a0007c0013t0020g0037 a0011c0011t0034g0076	4	51	0.0784	-23	c.107 others(44): Show c.1078-27674_1078-27652delAAAAAAAAAAAAAAAAAAAAAAA		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	3/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1327444	CCCACGGC others(16): Show CCCACGGCCCAGCGCCTCCTCACT	C C	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02083.hp2 HG02257.hp1 others(4): Show HG02027.hp1 HG02083.hp2 HG02257.hp1 HG02683.hp1 HG02717.hp1 HG02886.hp1 HG03540.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0006 a0007	a0001c0001 a0001c0007 a0002c0002 others(3): Show a0001c0001 a0001c0007 a0002c0002 a0004c0005 a0006c0009 a0007c0013	a0001c0001t0009 a0001c0007t0066 a0002c0002t0005 others(4): Show a0001c0001t0009 a0001c0007t0066 a0002c0002t0005 a0002c0002t0064 a0004c0005t0037 a0006c0009t0024 a0007c0013t0020	a0001c0001t0009g0055 a0001c0007t0066g0105 a0002c0002t0005g0012 others(4): Show a0001c0001t0009g0055 a0001c0007t0066g0105 a0002c0002t0005g0012 a0002c0002t0064g0100 a0004c0005t0037g0064 a0006c0009t0024g0016 a0007c0013t0020g0037	7	101	0.0693	-23	c.107 others(44): Show c.1077+35561_1077+35583delAGTGAGGAGGCGCTGGGCCGTGG		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	3/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1327537	ACTGCCCA others(16): Show ACTGCCCAGCGCCTCCTCACGGCC	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01081.hp2 HG02055.hp1 others(10): Show HG00639.hp2 HG01081.hp2 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02257.hp2 HG02717.hp2 HG03041.hp1 HG03139.hp2 HG03209.hp2 NA18522.hp1 NA20805.hp2 NA21309.hp1	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0011c0011	a0001c0001t0017 a0001c0001t0019 a0001c0001t0022 others(8): Show a0001c0001t0017 a0001c0001t0019 a0001c0001t0022 a0001c0001t0029 a0001c0003t0032 a0001c0003t0039 a0002c0002t0002 a0002c0002t0005 a0002c0002t0027 a0002c0002t0048 a0011c0011t0034	a0001c0001t0017g0030 a0001c0001t0019g0038 a0001c0001t0022g0015 others(10): Show a0001c0001t0017g0030 a0001c0001t0019g0038 a0001c0001t0022g0015 a0001c0001t0029g0031 a0001c0003t0032g0071 a0001c0003t0039g0044 a0002c0002t0002g0043 a0002c0002t0002g0067 a0002c0002t0005g0022 a0002c0002t0005g0033 a0002c0002t0027g0021 a0002c0002t0048g0068 a0011c0011t0034g0076	13	106	0.1226	-23	c.107 others(44): Show c.1077+35468_1077+35490delGGCCGTGAGGAGGCGCTGGGCAG		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	3/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1493729	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0012 a0002c0002t0005g0012	1	3	0.3333	-23	c.101 others(44): Show c.101-114592_101-114570delAAAAAAAAAAAAAAAAAAAAAAA		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9						chr10	TogoVar
ADCY1_chr7_45569368_45728116	45612185	CAAGTGGG others(16): Show CAAGTGGGTGGAAAGTAGCTGAAG	C C	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	276	0.0036	-23	c.908 others(40): Show c.908+1690_908+1712delAGTGGGTGGAAAGTAGCTGAAGA		ADCY1	ENSG00000164742.16	transcript	ENST00000297323.12	protein_coding	3/19					INFO_REALIGN_3_PRIME	chr7	TogoVar
ADCY3_chr2_24814169_24925237	24853006	GTGTGTGT others(16): Show GTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0074 a0001c0002t0004g0074	1	265	0.0038	-23	c.826 others(42): Show c.826-10645_826-10623delACACACACACACACACACACACA		ADCY3	ENSG00000138031.15	transcript	ENST00000679454.1	protein_coding	3/21						chr2	TogoVar
ADCY5_chr3_123277296_123454090	123449203	CGGGGGGG others(16): Show CGGGGGGGAGGGTCCTGGAGCCCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0074 a0001c0001t0002g0074	1	258	0.0039	-23	c.-68 others(32): Show c.-681_-659delCGGGCTCCAGGACCCTCCCCCCC		ADCY5	ENSG00000173175.16	transcript	ENST00000462833.6	protein_coding					114		chr3	TogoVar

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