Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
ACSS2_chr20_34871612_34932959	34899423	T T	TTTCTTTC others(15): Show TTTCTTTCTCTTTCTTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0147 a0002c0004t0001g0147	1	157	0.0064	22	c.375 others(41): Show c.375-13670_375-13669insTTTCTCTTTCTTTCCTTCCTTC	ACSS2	ENSG00000131069.20	transcript	ENST00000360596.7	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
ACSS3_chr12_81073079_81266210	81213938	T T	TTCCTTCC others(15): Show TTCCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02135.hp2 HG00558.hp2 HG02135.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0009 a0001c0002t0002 a0001c0002t0009	a0001c0002t0002g0161 a0001c0002t0009g0179 a0001c0002t0002g0161 a0001c0002t0009g0179	2	278	0.0072	22	c.135 others(41): Show c.1355-2963_1355-2962insTCCTTCCTTCCTTCCTTCCTTC	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	9/15			chr12	TogoVar
ACTG2_chr2_73888008_73924865	73904777	G G	GTGTGTGT others(15): Show GTGTGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0367 a0001c0001t0005g0367	1	259	0.0039	22	c.255 others(39): Show c.255+2290_255+2291insGTGTGTATATATATATATATAT	ACTG2	ENSG00000163017.14	transcript	ENST00000345517.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACTL6A_chr3_179557926_179593407	179579455	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	46	0.0217	22	c.769 others(39): Show c.769-1171_769-1150dupCACACACACACACACACACACA	ACTL6A	ENSG00000136518.17	transcript	ENST00000429709.7	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
ACTL8_chr1_17750333_17832063	17802424	C C	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02630.hp1 HG02145.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0008 a0001c0009t0001 a0001c0001t0008 a0001c0009t0001	a0001c0001t0008g0019 a0001c0009t0001g0331 a0001c0001t0008g0019 a0001c0009t0001g0331	2	215	0.0093	22	c.-24 others(41): Show c.-24-20554_-24-20533dupGTGTGTGTGTGTGTGTGTGTGT	ACTL8	ENSG00000117148.8	transcript	ENST00000375406.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTL9_chr19_8692400_8703795	8694853	A A	AAGAGAGA others(15): Show AAGAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	52	0.0192	22	c.25 others(33): Show c.2597_*2598insCTCTCTCTCTCTCTCTCTCTCT	ACTL9	ENSG00000181786.6	transcript	ENST00000324436.5	protein_coding		2546		chr19	TogoVar
ACTN1_chr14_68869128_68984302	68881936	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	256	0.0039	22	c.195 others(39): Show c.1953+521_1953+522insAAAAAAAAAAAAAAAAAAAAAA	ACTN1	ENSG00000072110.16	transcript	ENST00000394419.9	protein_coding	16/21			chr14	TogoVar
ACTN1_chr14_68869128_68984302	68892767	T T	TGGCCTGG others(15): Show TGGCCTGGAGCACAAGCAGGCAC	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0050 a0001c0001t0002g0050	1	282	0.0035	22	c.856 others(37): Show c.856-506_856-485dupGTGCCTGCTTGTGCTCCAGGCC	ACTN1	ENSG00000072110.16	transcript	ENST00000394419.9	protein_coding	9/21			chr14	TogoVar
ACTN2_chr1_236681499_236769631	236737297	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01081.hp1 HG01175.hp1 others(5): Show HG00140.hp1 HG01081.hp1 HG01175.hp1 HG01255.hp1 HG02886.hp2 HG03490.hp2 HG03704.hp1 NA18906.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0006 a0001c0025 others(1): Show a0001c0001 a0001c0006 a0001c0025 a0004c0012	a0001c0001t0001 a0001c0001t0003 a0001c0006t0008 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0006t0008 a0001c0025t0006 a0004c0012t0008	a0001c0001t0001g0323 a0001c0001t0001g0327 a0001c0001t0001g0329 others(5): Show a0001c0001t0001g0323 a0001c0001t0001g0327 a0001c0001t0001g0329 a0001c0001t0003g0282 a0001c0006t0008g0128 a0001c0025t0006g0122 a0004c0012t0008g0093 a0004c0012t0008g0099	8	202	0.0396	22	c.876 others(35): Show c.876+83_876+84insTATATATATATATATATATATA	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	9/20			chr1	TogoVar
ACTN4_chr19_38642649_38736589	38736455	C C	CCCCCAGG others(15): Show CCCCCAGGGCTTTGCCCACCAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0134 a0001c0001t0009g0134	1	305	0.0033	22	c.70 others(33): Show c.7023_*7024insCCCCAGGGCTTTGCCCACCAAG	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4867		chr19	TogoVar
ACTR10_chr14_58195149_58240636	58201119	A A	ATCTCTAG others(15): Show ATCTCTAGGCACTTCCTGACGTG	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0251 a0001c0001t0007g0251	1	320	0.0031	22	c.77+ others(35): Show c.77+827_77+848dupCTCTAGGCACTTCCTGACGTGT	ACTR10	ENSG00000131966.14	transcript	ENST00000254286.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
ACTRT3_chr3_169761921_169774561	169770533	A A	ATATAAAA others(15): Show ATATAAAAAATTTATATTATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	415	0.0024	22	c.-10 others(33): Show c.-1014_-1013insATTATAATATAAATTTTTTATA	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		973		chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169773379	G G	GGGGCGGA others(15): Show GGGGCGGAGCGTGGCTCGGTGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0046 a0003c0003t0001g0046	1	416	0.0024	22	c.-38 others(33): Show c.-3860_-3859insGTCACCGAGCCACGCTCCGCCC	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		3819		chr3	TogoVar
ACVR1C_chr2_157521767_157633864	157588848	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0066 a0001c0002t0008g0066	1	20	0.0500	22	c.74- others(37): Show c.74-1453_74-1432dupATATATATATATATATATATAT	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding	1/8			chr2	TogoVar
ACVR2B_chr3_38448890_38498142	38492731	T T	TACACACA others(15): Show TACACACACACACACACACACAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0098 a0001c0001t0098	a0001c0001t0098g0005 a0001c0001t0098g0005	1	136	0.0074	22	c.94 others(33): Show c.9451_*9472dupCACACACACACACACACACACA	ACVR2B	ENSG00000114739.14	transcript	ENST00000352511.5	protein_coding	11/11	9473	INFO_REALIGN_3_PRIME	chr3	TogoVar
ACVRL1_chr12_51902504_51928361	51920133	C C	CCCTGGGA others(15): Show CCCTGGGATGGGTTGATGAGCTT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0089 a0001c0002t0023g0089	1	436	0.0023	22	c.137 others(39): Show c.1378-603_1378-582dupCCTGGGATGGGTTGATGAGCTT	ACVRL1	ENSG00000139567.13	transcript	ENST00000388922.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACVRL1_chr12_51902504_51928361	51920143	G G	GGTTGATG others(15): Show GGTTGATGAGCTTCCTGGGATGA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0022 a0001c0005t0022	a0001c0005t0022g0111 a0001c0005t0022g0111	1	436	0.0023	22	c.137 others(39): Show c.1378-595_1378-594insAGTTGATGAGCTTCCTGGGATG	ACVRL1	ENSG00000139567.13	transcript	ENST00000388922.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACYP2_chr2_53966113_54310300	54035009	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01081.hp1 HG01168.hp2 others(3): Show HG00280.hp2 HG01081.hp1 HG01168.hp2 HG04184.hp1 HG06807.hp2 NA18981.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0005 a0001c0002t0002 a0001c0002t0005	a0001c0002t0002g0021 a0001c0002t0002g0025 a0001c0002t0002g0053 others(3): Show a0001c0002t0002g0021 a0001c0002t0002g0025 a0001c0002t0002g0053 a0001c0002t0002g0095 a0001c0002t0002g0103 a0001c0002t0005g0102	6	90	0.0667	22	c.63- others(39): Show c.63-15947_63-15926dupAAAAAAAAAAAAAAAAAAAAAA	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54072513	T T	TTTTTTCT others(15): Show TTTTTTCTTCTTTCTTTCTTTCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp1 others(89): Show HG00099.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00621.hp2 HG01099.hp1 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01261.hp2 HG01346.hp2 HG01515.hp1 HG01516.hp2 HG01928.hp2 HG01934.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02155.hp1 HG02165.hp1 HG02486.hp2 HG02559.hp1 HG02622.hp2 HG02698.hp2 HG02735.hp1 HG02818.hp1 HG02895.hp2 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03486.hp2 HG03669.hp1 HG03704.hp1 HG03831.hp1 HG04115.hp1 HG04184.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18941.hp2 NA18945.hp2 NA18951.hp2 NA18961.hp1 NA18967.hp1 NA18973.hp2 NA18981.hp1 NA18986.hp2 NA18990.hp2 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19003.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp2 NA19056.hp1 NA19062.hp1 NA19065.hp1 NA19065.hp2 NA19070.hp2 NA19077.hp2 NA19080.hp1 NA19085.hp1 NA19087.hp1 NA19090.hp1 NA19091.hp2 NA20300.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0002c0005	a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 others(11): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0008 a0001c0002t0013 a0001c0002t0014 a0001c0002t0015 a0002c0003t0002 a0002c0003t0005 a0002c0005t0002	a0001c0001t0001g0148 a0001c0001t0001g0258 a0001c0001t0001g0262 others(89): Show a0001c0001t0001g0148 a0001c0001t0001g0258 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0004g0126 a0001c0001t0004g0138 a0001c0001t0004g0139 a0001c0001t0004g0245 a0001c0001t0004g0272 a0001c0001t0012g0265 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0002g0007 a0001c0002t0002g0009 a0001c0002t0002g0010 a0001c0002t0002g0011 a0001c0002t0002g0012 a0001c0002t0002g0013 a0001c0002t0002g0015 a0001c0002t0002g0016 a0001c0002t0002g0019 a0001c0002t0002g0021 a0001c0002t0002g0022 a0001c0002t0002g0023 a0001c0002t0002g0024 a0001c0002t0002g0025 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0033 a0001c0002t0002g0035 a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0042 a0001c0002t0002g0043 a0001c0002t0002g0044 a0001c0002t0002g0045 a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0002g0049 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0053 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0002g0066 a0001c0002t0002g0070 a0001c0002t0002g0100 a0001c0002t0002g0103 a0001c0002t0002g0122 a0001c0002t0002g0271 a0001c0002t0003g0074 a0001c0002t0003g0077 a0001c0002t0003g0079 a0001c0002t0003g0082 a0001c0002t0003g0084 a0001c0002t0003g0085 a0001c0002t0003g0086 a0001c0002t0005g0034 a0001c0002t0005g0065 a0001c0002t0005g0102 a0001c0002t0008g0067 a0001c0002t0008g0069 a0001c0002t0013g0039 a0001c0002t0014g0076 a0001c0002t0015g0075 a0002c0003t0002g0017 a0002c0003t0002g0018 a0002c0003t0002g0028 a0002c0003t0002g0029 a0002c0003t0002g0030 a0002c0003t0002g0031 a0002c0003t0002g0048 a0002c0003t0002g0050 a0002c0003t0002g0068 a0002c0003t0002g0104 a0002c0003t0005g0101 a0002c0005t0002g0238	92	230	0.4000	22	c.277 others(41): Show c.277+15154_277+15155insTTTTCTTCTTTCTTTCTTTCCT	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54201606	T T	TTCTTTCT others(15): Show TTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0039 a0001c0002t0013g0039	1	258	0.0039	22	c.404 others(41): Show c.404+62875_404+62876insCTTTCTCTTTCTTTCTTTCTTT	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54201628	C C	CTTTTTCT others(15): Show CTTTTTCTTTCTTTCTTTCTTTG	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	260	0.0038	22	c.404 others(41): Show c.404+62883_404+62884insTTCTTTCTTTCTTTCTTTGTTT	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54201632	C C	CTTTTTCT others(15): Show CTTTTTCTTTCTTTCTTTCTTTG	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02155.hp2 HG02129.hp1 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0005 a0001c0001t0001 a0001c0002t0005	a0001c0001t0001g0158 a0001c0002t0005g0061 a0001c0001t0001g0158 a0001c0002t0005g0061	2	255	0.0078	22	c.404 others(41): Show c.404+62887_404+62888insTTCTTTCTTTCTTTCTTTGTTT	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54201642	C C	CTTTCTTT others(15): Show CTTTCTTTCTTTCTTTGTTTCTT	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA20752.hp2 NA18969.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0127 a0001c0001t0004g0246 a0001c0001t0004g0127 a0001c0001t0004g0246	2	255	0.0078	22	c.404 others(41): Show c.404+62909_404+62910insGTTTCTTTTTCTTTCTTTCTTT	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54201680	T T	TTCTTTCT others(15): Show TTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	240	0.0042	22	c.404 others(41): Show c.404+62935_404+62936insTTCTTTCTTTCTTTCTTTCTCT	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54207173	A A	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	105	0.0095	22	c.404 others(41): Show c.404+68437_404+68458dupGTGTGTGTGTGTGTGTGTGTGT	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54219821	G G	GTGTGTGT others(15): Show GTGTGTGTATATATATGTGTGTA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01243.hp1 HG01255.hp1 others(36): Show HG01109.hp2 HG01243.hp1 HG01255.hp1 HG01346.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG02109.hp1 HG02109.hp2 HG02257.hp1 HG02451.hp2 HG02559.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02717.hp2 HG02809.hp2 HG02818.hp1 HG02896.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG06807.hp1 NA18522.hp2 NA19030.hp1 NA19043.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0001 a0001c0001t0012 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0012 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0003c0004t0007	a0001c0001t0001g0105 a0001c0001t0001g0142 a0001c0001t0001g0159 others(36): Show a0001c0001t0001g0105 a0001c0001t0001g0142 a0001c0001t0001g0159 a0001c0001t0001g0196 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0225 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0258 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0012g0265 a0001c0002t0001g0071 a0001c0002t0001g0073 a0001c0002t0001g0123 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0108 a0001c0002t0003g0080 a0001c0002t0003g0081 a0001c0002t0003g0083 a0001c0002t0003g0092 a0001c0002t0003g0094 a0001c0002t0003g0096 a0001c0002t0003g0097 a0001c0002t0003g0109 a0001c0002t0003g0110 a0001c0002t0003g0111 a0001c0002t0006g0003 a0001c0002t0006g0004 a0003c0004t0007g0005 a0003c0004t0007g0006	39	209	0.1866	22	c.404 others(41): Show c.404+81092_404+81093insGTATGTGTGTATATATATGTGT	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ADA2_chr22_17173790_17224435	17184983	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01358.hp2 HG03225.hp1 others(6): Show HG01167.hp1 HG01358.hp2 HG03225.hp1 HG03453.hp2 HG03516.hp1 HG03579.hp2 HG03688.hp1 NA19067.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005	a0001c0001t0005 a0001c0001t0007 a0001c0002t0008 others(4): Show a0001c0001t0005 a0001c0001t0007 a0001c0002t0008 a0001c0004t0002 a0001c0004t0006 a0001c0005t0002 a0001c0005t0006	a0001c0001t0005g0268 a0001c0001t0007g0316 a0001c0002t0008g0343 others(6): Show a0001c0001t0005g0268 a0001c0001t0007g0316 a0001c0002t0008g0343 a0001c0002t0008g0385 a0001c0004t0002g0049 a0001c0004t0002g0208 a0001c0004t0006g0368 a0001c0005t0002g0023 a0001c0005t0006g0353	9	209	0.0431	22	c.108 others(41): Show c.1082-2244_1082-2223dupATATATATATATATATATATAT	ADA2	ENSG00000093072.19	transcript	ENST00000399837.8	protein_coding	7/9			chr22	TogoVar
ADA2_chr22_17173790_17224435	17188863	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00544.hp1 others(30): Show HG00140.hp1 HG00280.hp1 HG00544.hp1 HG00738.hp2 HG01070.hp1 HG01167.hp1 HG01243.hp2 HG01255.hp1 HG01361.hp2 HG01496.hp1 HG01516.hp2 HG01891.hp1 HG02074.hp1 HG02258.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02723.hp2 HG02809.hp1 HG02896.hp2 HG03195.hp1 HG03486.hp2 HG03540.hp2 HG06807.hp2 NA18612.hp2 NA18947.hp1 NA18959.hp2 NA18964.hp1 NA18994.hp1 NA19057.hp2 NA19067.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0007 a0001c0001t0010 others(15): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0010 a0001c0001t0048 a0001c0002t0026 a0001c0002t0031 a0001c0003t0001 a0001c0003t0003 a0001c0003t0005 a0001c0003t0008 a0001c0004t0001 a0001c0004t0002 a0001c0004t0004 a0001c0004t0024 a0001c0005t0001 a0001c0005t0006 a0001c0005t0042 a0001c0005t0047	a0001c0001t0001g0267 a0001c0001t0007g0053 a0001c0001t0010g0056 others(30): Show a0001c0001t0001g0267 a0001c0001t0007g0053 a0001c0001t0010g0056 a0001c0001t0010g0215 a0001c0001t0048g0354 a0001c0002t0026g0030 a0001c0002t0031g0087 a0001c0003t0001g0085 a0001c0003t0003g0084 a0001c0003t0003g0101 a0001c0003t0003g0256 a0001c0003t0005g0071 a0001c0003t0008g0400 a0001c0004t0001g0209 a0001c0004t0002g0037 a0001c0004t0002g0092 a0001c0004t0002g0156 a0001c0004t0002g0174 a0001c0004t0002g0203 a0001c0004t0002g0205 a0001c0004t0002g0213 a0001c0004t0002g0218 a0001c0004t0002g0248 a0001c0004t0002g0302 a0001c0004t0004g0348 a0001c0004t0024g0160 a0001c0005t0001g0102 a0001c0005t0006g0339 a0001c0005t0006g0353 a0001c0005t0006g0380 a0001c0005t0006g0387 a0001c0005t0042g0340 a0001c0005t0047g0347	33	222	0.1486	22	c.973 others(37): Show c.973-417_973-416insTTTTTTTTTTTTTTTTTTTTTT	ADA2	ENSG00000093072.19	transcript	ENST00000399837.8	protein_coding	6/9			chr22	TogoVar
ADAD1_chr4_122374011_122434784	122413851	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03490.hp1 HG03492.hp2 others(2): Show HG02622.hp2 HG03490.hp1 HG03492.hp2 HG03654.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0172 a0001c0001t0001g0195 others(1): Show a0001c0001t0001g0029 a0001c0001t0001g0172 a0001c0001t0001g0195 a0001c0001t0001g0282	5	23	0.2174	22	c.124 others(41): Show c.1249+1047_1249+1068dupATATATATATATATATATATAT	ADAD1	ENSG00000164113.11	transcript	ENST00000296513.7	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
ADAD2_chr16_84186157_84202166	84197184	C C	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG01255.hp1 HG01261.hp2 others(23): Show HG00558.hp1 HG01255.hp1 HG01261.hp2 HG01884.hp1 HG02004.hp1 HG02055.hp1 HG02056.hp1 HG02132.hp1 HG02155.hp1 HG02273.hp2 HG02523.hp2 HG02559.hp2 HG02723.hp2 HG03098.hp2 HG03225.hp2 HG03453.hp2 HG03579.hp1 HG03654.hp2 HG06807.hp2 NA18956.hp1 NA18974.hp2 NA18983.hp2 NA18989.hp2 NA18994.hp2 NA18998.hp2 NA19074.hp1	a0001 a0003 a0001 a0003	a0001c0035 a0003c0001 a0001c0035 a0003c0001	a0001c0035t0001 a0003c0001t0001 a0001c0035t0001 a0003c0001t0001	a0001c0035t0001g0049 a0003c0001t0001g0003 a0003c0001t0001g0004 others(5): Show a0001c0035t0001g0049 a0003c0001t0001g0003 a0003c0001t0001g0004 a0003c0001t0001g0021 a0003c0001t0001g0066 a0003c0001t0001g0068 a0003c0001t0001g0071 a0003c0001t0001g0074	26	207	0.1256	22	c.21 others(31): Show c.210_*211insTGTGTGTGTGTGTGTGTGTGTG	ADAD2	ENSG00000140955.11	transcript	ENST00000315906.10	protein_coding		19		chr16	TogoVar
ADAL_chr15_43325672_43359569	43334633	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00642.hp1 HG01069.hp1 others(27): Show HG00558.hp1 HG00642.hp1 HG01069.hp1 HG01106.hp2 HG01243.hp2 HG01361.hp2 HG01433.hp2 HG01516.hp1 HG01891.hp2 HG01981.hp2 HG02015.hp2 HG02165.hp2 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG03239.hp2 HG03669.hp1 HG03688.hp2 HG04199.hp2 HG04228.hp1 NA18972.hp1 NA18978.hp2 NA18987.hp2 NA18989.hp1 NA19012.hp1 NA19055.hp1 NA19068.hp1 NA19077.hp1 NA19084.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0002 a0001c0001t0004 a0001c0001t0017 others(5): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0017 a0001c0002t0001 a0001c0002t0003 a0001c0002t0020 a0001c0002t0024 a0002c0004t0004	a0001c0001t0002g0027 a0001c0001t0002g0143 a0001c0001t0002g0144 others(18): Show a0001c0001t0002g0027 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0004g0023 a0001c0001t0004g0058 a0001c0001t0004g0105 a0001c0001t0017g0023 a0001c0002t0001g0008 a0001c0002t0001g0034 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0197 a0001c0002t0003g0008 a0001c0002t0003g0057 a0001c0002t0020g0207 a0001c0002t0024g0100 a0002c0004t0004g0035	30	44	0.6818	22	c.-16 others(39): Show c.-163-302_-163-281dupATATATATATATATATATATAT	ADAL	ENSG00000168803.16	transcript	ENST00000562188.7	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
ADAL_chr15_43325672_43359569	43357270	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0023 a0001c0001t0004g0023	1	3	0.3333	22	c.53 others(33): Show c.5325_*5326insTTTTTTTTTTTTTTTTTTTTTT	ADAL	ENSG00000168803.16	transcript	ENST00000562188.7	protein_coding		2702		chr15	TogoVar
ADAM10_chr15_58583809_58754707	58647248	A A	ATTTCTTT others(15): Show ATTTCTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 NA18522.hp2 NA18957.hp1 HG01243.hp2 NA18522.hp2 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0056 a0001c0001t0057 a0001c0001t0020 a0001c0001t0056 a0001c0001t0057	a0001c0001t0020g0318 a0001c0001t0056g0300 a0001c0001t0057g0295 a0001c0001t0020g0318 a0001c0001t0056g0300 a0001c0001t0057g0295	3	10	0.3000	22	c.586 others(39): Show c.586-1045_586-1044insAAAAAAAAAAAAAAAAAAGAAA	ADAM10	ENSG00000137845.15	transcript	ENST00000260408.8	protein_coding	5/15			chr15	TogoVar
ADAM10_chr15_58583809_58754707	58688766	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03098.hp2 HG03225.hp2 others(3): Show HG02572.hp1 HG03098.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0028 a0001c0001t0114 others(1): Show a0001c0001t0019 a0001c0001t0028 a0001c0001t0114 a0001c0001t0115	a0001c0001t0019g0096 a0001c0001t0019g0097 a0001c0001t0019g0098 others(3): Show a0001c0001t0019g0096 a0001c0001t0019g0097 a0001c0001t0019g0098 a0001c0001t0028g0301 a0001c0001t0114g0330 a0001c0001t0115g0331	6	276	0.0217	22	c.207 others(39): Show c.207-6453_207-6452insTATATATATATATATATATATA	ADAM10	ENSG00000137845.15	transcript	ENST00000260408.8	protein_coding	2/15			chr15	TogoVar
ADAM10_chr15_58583809_58754707	58688786	A A	ATATATAT others(15): Show ATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02647.hp1 HG03704.hp1 others(1): Show HG02451.hp2 HG02647.hp1 HG03704.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0017 a0001c0001t0081 others(1): Show a0001c0001t0005 a0001c0001t0017 a0001c0001t0081 a0001c0001t0082	a0001c0001t0005g0219 a0001c0001t0017g0204 a0001c0001t0081g0093 others(1): Show a0001c0001t0005g0219 a0001c0001t0017g0204 a0001c0001t0081g0093 a0001c0001t0082g0092	4	127	0.0315	22	c.207 others(39): Show c.207-6473_207-6472insGATATATATATATATATATATA	ADAM10	ENSG00000137845.15	transcript	ENST00000260408.8	protein_coding	2/15			chr15	TogoVar
ADAM10_chr15_58583809_58754707	58688786	A A	ATATATAT others(15): Show ATATATATATATATATATATCTC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02135.hp1 NA18939.hp2 others(10): Show HG00609.hp1 HG02135.hp1 NA18939.hp2 NA18953.hp2 NA18957.hp2 NA18962.hp2 NA18968.hp1 NA18988.hp1 NA19004.hp1 NA19011.hp2 NA19060.hp2 NA19074.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(3): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 a0001c0001t0067 a0001c0001t0071	a0001c0001t0003g0254 a0001c0001t0003g0255 a0001c0001t0003g0256 others(10): Show a0001c0001t0003g0254 a0001c0001t0003g0255 a0001c0001t0003g0256 a0001c0001t0003g0270 a0001c0001t0004g0247 a0001c0001t0005g0212 a0001c0001t0005g0213 a0001c0001t0005g0226 a0001c0001t0011g0210 a0001c0001t0011g0225 a0001c0001t0011g0234 a0001c0001t0067g0245 a0001c0001t0071g0009	13	136	0.0956	22	c.207 others(39): Show c.207-6473_207-6472insGAGATATATATATATATATATA	ADAM10	ENSG00000137845.15	transcript	ENST00000260408.8	protein_coding	2/15			chr15	TogoVar
ADAM10_chr15_58583809_58754707	58688786	A A	ATATATAT others(15): Show ATATATATATATATATATCTCTC	intron_variant intron_variant	MODIFIER	HG01952.hp2 NA18940.hp1 NA18948.hp2 others(8): Show HG01952.hp2 NA18940.hp1 NA18948.hp2 NA18965.hp1 NA18977.hp2 NA18986.hp2 NA18998.hp1 NA19009.hp2 NA19083.hp2 NA19090.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(2): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009	a0001c0001t0003g0189 a0001c0001t0003g0265 a0001c0001t0003g0266 others(8): Show a0001c0001t0003g0189 a0001c0001t0003g0265 a0001c0001t0003g0266 a0001c0001t0003g0267 a0001c0001t0003g0268 a0001c0001t0004g0269 a0001c0001t0005g0271 a0001c0001t0005g0272 a0001c0001t0005g0273 a0001c0001t0008g0251 a0001c0001t0009g0244	11	134	0.0821	22	c.207 others(39): Show c.207-6473_207-6472insGAGAGATATATATATATATATA	ADAM10	ENSG00000137845.15	transcript	ENST00000260408.8	protein_coding	2/15			chr15	TogoVar
ADAM10_chr15_58583809_58754707	58688786	A A	ATATATAT others(15): Show ATATATATATATATATCTCTCTC	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA20129.hp2 NA18942.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0051 a0001c0001t0009 a0001c0001t0051	a0001c0001t0009g0242 a0001c0001t0051g0001 a0001c0001t0009g0242 a0001c0001t0051g0001	2	125	0.0160	22	c.207 others(39): Show c.207-6473_207-6472insGAGAGAGATATATATATATATA	ADAM10	ENSG00000137845.15	transcript	ENST00000260408.8	protein_coding	2/15			chr15	TogoVar
ADAM12_chr10_126007391_126393477	126086680	A A	AAAAAATA others(15): Show AAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 NA19043.hp1 HG00140.hp2 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0014 a0001c0008t0002 a0001c0002t0014 a0001c0008t0002	a0001c0002t0014g0016 a0001c0008t0002g0146 a0001c0002t0014g0016 a0001c0008t0002g0146	2	66	0.0303	22	c.114 others(41): Show c.1145+7304_1145+7305insATATATATATATATATATTTTT	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	11/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126086680	A A	AAAATATA others(15): Show AAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0012 a0001c0012t0012	a0001c0012t0012g0192 a0001c0012t0012g0192	1	65	0.0154	22	c.114 others(41): Show c.1145+7304_1145+7305insATATATATATATATATATATTT	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	11/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126086704	T T	TATATATA others(15): Show TATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0016 a0016	a0016c0030 a0016c0030	a0016c0030t0001 a0016c0030t0001	a0016c0030t0001g0113 a0016c0030t0001g0113	1	216	0.0046	22	c.114 others(41): Show c.1145+7280_1145+7281insTTATATATATATATATATATAT	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	11/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126113687	A A	AAAAAAAA others(15): Show AAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0003 a0001c0014t0003	a0001c0014t0003g0080 a0001c0014t0003g0080	1	133	0.0075	22	c.604 others(39): Show c.604-3848_604-3847insATATATATATATATATTTTTTT	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	6/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126113687	A A	AAAAAATA others(15): Show AAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0005 a0001c0014t0005	a0001c0014t0005g0236 a0001c0014t0005g0236	1	133	0.0075	22	c.604 others(39): Show c.604-3848_604-3847insATATATATATATATATATTTTT	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	6/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126158541	G G	GGAGGATG others(15): Show GGAGGATGCACAGAGCATGGAGA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0009 a0002c0001t0009	a0002c0001t0009g0024 a0002c0001t0009g0024	1	79	0.0127	22	c.261 others(39): Show c.261-3237_261-3236insTCTCCATGCTCTGTGCATCCTC	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	3/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126174008	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0006 a0006	a0006c0044 a0006c0044	a0006c0044t0036 a0006c0044t0036	a0006c0044t0036g0197 a0006c0044t0036g0197	1	118	0.0085	22	c.261 others(41): Show c.261-18725_261-18704dupAAAAAAAAAAAAAAAAAAAAAA	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	3/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126243489	A A	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0029 a0002c0001t0029	a0002c0001t0029g0003 a0002c0001t0029g0003	1	13	0.0769	22	c.260 others(41): Show c.260+35404_260+35425dupCACACACACACACACACACACA	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	3/22			chr10	TogoVar
ADAM17_chr2_9483486_9560830	9489259	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0068 a0001c0001t0048g0068	1	69	0.0145	22	c.89 others(31): Show c.896_*917dupAAAAAAAAAAAAAAAAAAAAAA	ADAM17	ENSG00000151694.15	transcript	ENST00000310823.8	protein_coding	19/19	917		chr2	TogoVar
ADAM17_chr2_9483486_9560830	9514518	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0191 a0001c0002t0002g0191	1	9	0.1111	22	c.119 others(41): Show c.1191+3361_1191+3382dupATATATATATATATATATATAT	ADAM17	ENSG00000151694.15	transcript	ENST00000310823.8	protein_coding	10/18			chr2	TogoVar
ADAM17_chr2_9483486_9560830	9520964	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	94	0.0106	22	c.957 others(37): Show c.957+217_957+238dupTTTTTTTTTTTTTTTTTTTTTT	ADAM17	ENSG00000151694.15	transcript	ENST00000310823.8	protein_coding	8/18			chr2	TogoVar
ADAM20_chr14_70517358_70540004	70536465	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18973.hp1 NA19070.hp2 NA18973.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0001 a0001c0001t0001g0014	2	37	0.0541	22	c.-18 others(33): Show c.-1846_-1845insTTTTTTTTTTTTTTTTTTTTTT	ADAM20	ENSG00000134007.5	transcript	ENST00000256389.5	protein_coding		1462		chr14	TogoVar

Search by Variant

Search

Search Results