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
SCN11A_chr3_38840764_39056944	38877328	GGTATATA others(115): Show GGTATATATATGGTGTATATACTATATATATGGTATATATATGGTGTATA TACTATATATATGGTATATATATGGTGTATATACTATATATATGGTATAT ATATGGTGTATATACTATATATA	G G	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0008 a0008	a0008c0018 a0008c0018	a0008c0018t0015 a0008c0018t0015	a0008c0018t0015g0208 a0008c0018t0015g0208	1	314	0.0032	-122	c.339 others(19): Show c.3393+2500_3393+2621del	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	23/29			chr3	TogoVar
SCO1_chr17_10667474_10702533	10700355	CAACTTTT others(115): Show CAACTTTTCAGTAATTAAGCATCCTTGGGTATGGGAGGCCTGAGGCAGGT GGATCACTTGAGCTCAGGAGCTTGAGACCAGCCTGGGCAACATGGCAAAA CCCTATTAGTATGATCTTGTAGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0107 a0001c0001t0107	a0001c0001t0107g0100 a0001c0001t0107g0100	1	416	0.0024	-122	c.-29 others(11): Show c.-2970_-2849del	SCO1	ENSG00000133028.12	transcript	ENST00000255390.10	protein_coding		2823		chr17	TogoVar
SCUBE1_chr22_43192280_43348372	43280378	GTCCCCTC others(115): Show GTCCCCTCACCCATCCCCCGTCCCTTCCCCTCACCCATCCTCCTGTCCCT TCCCCTCACCCATCCCCCTGTCCCTTCCCCTCACCCATCCTCCCGTCCCT TCCCCTCACCCATCCCCGTCCCT	G G	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02922.hp1 NA19043.hp2 HG02622.hp1 HG02922.hp1 NA19043.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0006 a0002c0014 a0004c0027 a0001c0006 a0002c0014 a0004c0027	a0001c0006t0086 a0002c0014t0026 a0004c0027t0087 a0001c0006t0086 a0002c0014t0026 a0004c0027t0087	a0001c0006t0086g0272 a0002c0014t0026g0130 a0004c0027t0087g0273 a0001c0006t0086g0272 a0002c0014t0026g0130 a0004c0027t0087g0273	3	280	0.0107	-122	c.484 others(19): Show c.484+10546_484+10667del	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SGTA_chr19_2749715_2788273	2773226	CGGCCACA others(115): Show CGGCCACACGGCAGGGACACCGAGGGCAGAGATGGGTGACGCGGCCACAG GGCAGGGACACCGAGGGCAGAGATGGGTGACGCGGCCACACGGCGGGGAC ACCGAGGGCAGAGGTGGGTGACG	C C	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0122 a0001c0002t0002g0122	1	396	0.0025	-122	c.-23 others(17): Show c.-23-4257_-23-4136del	SGTA	ENSG00000104969.11	transcript	ENST00000221566.7	protein_coding	1/11			chr19	TogoVar
SH2D1A_chrX_124341563_124378160	124350728	ATATAATA others(115): Show ATATAATATATTATATATTGTATATAAGATATAATATATTATATATTGTA TATAAGATATAATATATTATATATTGTATATAAGATATAATATATTATAT ATTGTATATAAGATATAATATAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG00544.hp2 others(87): Show HG00280.hp1 HG00438.hp1 HG00544.hp2 HG00597.hp1 HG00609.hp1 HG00733.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01099.hp1 HG01106.hp1 HG01123.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01361.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG02056.hp1 HG02074.hp1 HG02135.hp1 HG02145.hp1 HG02155.hp1 HG02258.hp1 HG02280.hp2 HG02451.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp2 HG02717.hp1 HG02723.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02970.hp1 HG02976.hp1 HG03041.hp1 HG03139.hp1 HG03195.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03654.hp1 HG03704.hp2 HG03834.hp1 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18945.hp1 NA18947.hp2 NA18954.hp1 NA18955.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18964.hp2 NA18965.hp1 NA18969.hp2 NA18984.hp1 NA18991.hp2 NA18999.hp1 NA19002.hp2 NA19004.hp1 NA19010.hp1 NA19030.hp1 NA19043.hp1 NA19056.hp1 NA19060.hp1 NA19064.hp1 NA19065.hp2 NA19068.hp1 NA19077.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0003c0002t0001	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(79): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0239 a0001c0001t0001g0248 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0284 a0001c0001t0002g0013 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0057 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0066 a0001c0001t0002g0077 a0001c0001t0002g0096 a0001c0001t0002g0283 a0001c0001t0003g0035 a0001c0001t0003g0038 a0001c0001t0003g0041 a0001c0001t0003g0120 a0001c0001t0003g0140 a0001c0001t0004g0040 a0001c0001t0004g0043 a0001c0001t0004g0121 a0001c0001t0004g0123 a0001c0001t0005g0148 a0001c0001t0005g0149 a0001c0001t0007g0067 a0001c0001t0009g0036 a0001c0001t0010g0056 a0001c0001t0011g0044 a0003c0002t0001g0094	90	318	0.2830	-122	c.137 others(17): Show c.137+3954_137+4075del	SH2D1A	ENSG00000183918.18	transcript	ENST00000371139.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chrX	TogoVar
SHC2_chr19_411589_466033	423279	GGCCCCTC others(115): Show GGCCCCTCCAGCTCCTGGTCCTGGGGGGTCCTCCCGCCCTGACCCTCACT CCCTGGTCTCCCGCCCCTCCAGCTCCTGGTCCTGGGGGGTCCTCCCGCCC TGACCCTCACTCCCTGGTCTCCC	G G	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	212	0.0047	-122	c.131 others(17): Show c.1310-945_1310-824del	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	10/12			chr19	TogoVar
SHC2_chr19_411589_466033	423436	GCCCTGAC others(115): Show GCCCTGACCCTCACTCCCTGGTCTCCCGCCCCTCCAGCTCCTGGTCCTGG GGGGTCCTCCCGCCCTGACCCTCGCTCCCTGGTCTCCCGCCCCTCCAGCT CCTGGTCCTGGGGGGTCCTCCCC	G G	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	212	0.0047	-122	c.131 others(18): Show c.1310-1102_1310-981del	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	10/12			chr19	TogoVar
SIGIRR_chr11_400716_419999	401351	GGCCCCGC others(115): Show GGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCC CCGCTCACACCCGGCCCCGCTCACACCCGGCCCGCTCACACCCGCCCCGC TCACACCCGCCCCGCTCACACCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	242	0.0041	-122	c.44 others(11): Show c.4423_*4544del	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4364		chr11	TogoVar
SLC12A7_chr5_1045384_1117063	1070269	CCCCCAGT others(115): Show CCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCAGTGA GCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAG CACACGGCATCACACTTATGCAG	C C	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	118	0.0085	-122	c.224 others(19): Show c.2241+3242_2241+3363del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC22A18_chr11_2897278_2930246	2923278	GCTCAGGG others(115): Show GCTCAGGGCACACATCTGACACTCCATCCACCTGCCTGTCTGGGAGGCAG CAGATCCAGAAACTCAGGGCACACATCTGACACTCCATCCACCTGCCTGT CTGGGAGGCAGCAGATCCAGAAA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02027.hp2 HG02080.hp1 others(13): Show HG00639.hp2 HG02027.hp2 HG02080.hp1 HG02109.hp2 HG02723.hp1 HG02809.hp1 HG02818.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp2 HG02976.hp1 HG03098.hp1 HG03540.hp1 HG06807.hp2 NA18906.hp1 NA20300.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0019	a0001c0001 a0001c0036 a0002c0003 others(4): Show a0001c0001 a0001c0036 a0002c0003 a0002c0020 a0003c0004 a0003c0007 a0019c0027	a0001c0001t0001 a0001c0036t0001 a0002c0003t0001 others(4): Show a0001c0001t0001 a0001c0036t0001 a0002c0003t0001 a0002c0020t0001 a0003c0004t0001 a0003c0007t0001 a0019c0027t0001	a0001c0001t0001g0259 a0001c0036t0001g0097 a0002c0003t0001g0169 others(8): Show a0001c0001t0001g0259 a0001c0036t0001g0097 a0002c0003t0001g0169 a0002c0020t0001g0167 a0002c0020t0001g0283 a0003c0004t0001g0002 a0003c0004t0001g0023 a0003c0007t0001g0002 a0003c0007t0001g0053 a0003c0007t0001g0075 a0019c0027t0001g0181	16	405	0.0395	-122	c.108 others(17): Show c.1087+837_1087+958del	SLC22A18	ENSG00000110628.16	transcript	ENST00000649076.2	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
SLC45A4_chr8_141202174_141313288	141203333	ACCATGGA others(115): Show ACCATGGAGAGAGAGAGAGAGAGAGAGGGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGG GAGAGAGAGAGAGAGAGACCGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0005 a0001c0008t0005	a0001c0008t0005g0145 a0001c0008t0005g0145	1	188	0.0053	-122	c.81 others(11): Show c.8117_*8238del	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3840		chr8	TogoVar
SMIM14_chr4_39541336_39643865	39619358	ATATATCA others(115): Show ATATATCAATAAATATAATTTATTCTATATATCAATAAATATAATTTATT CTATATCAATAAATATAATTTATTCTATATCAATAAATATAATTTATTCT ATATCAATAAATATAATTTATTC	A A	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp2 NA19240.hp1 HG02896.hp1 HG02896.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0003 a0001c0001t0008	a0001c0001t0003g0302 a0001c0001t0008g0304 a0001c0001t0008g0305 a0001c0001t0003g0302 a0001c0001t0008g0304 a0001c0001t0008g0305	3	344	0.0087	-122	c.-35 others(19): Show c.-35-14300_-35-14179del	SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	1/4			chr4	TogoVar
SNAP47_chr1_227730435_227786226	227740933	GTGGGGGC others(115): Show GTGGGGGCAGATGCCCAGCGGGTGACAGGAGGGGCTGTGAAATTGGGGTG CCTGTTAGGGTCAGGGACAGATGCCCAGCGGGTGATAGGGGAGGGCCTGT GAAGTTGGGTTGCCCGTTAGGGA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02280.hp1 HG02486.hp2 others(3): Show HG02109.hp1 HG02280.hp1 HG02486.hp2 HG03225.hp2 HG03579.hp1 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070 others(3): Show a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073	6	396	0.0152	-122	c.-46 others(17): Show c.-46+5446_-46+5567del	SNAP47	ENSG00000143740.15	transcript	ENST00000617596.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
SNX16_chr8_81794583_81847185	81842421	AGACAGAG others(115): Show AGACAGAGACAGAGAGAAAGAGAGAGAGAGAGGGCAAGAGCGAGAGACAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAAAGAGAAAGAAAACGAGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0153 a0002c0003t0007g0153	1	306	0.0033	-122	c.-51 others(9): Show c.-518_-397del	SNX16	ENSG00000104497.15	transcript	ENST00000345957.9	protein_coding		237		chr8	TogoVar
STARD13_chr13_33098137_33290755	33177810	AAGGAAGG others(115): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA AGGAAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0135 a0001c0002t0001g0135	1	302	0.0033	-122	c.170 others(19): Show c.170-10310_170-10189del	STARD13	ENSG00000133121.21	transcript	ENST00000336934.10	protein_coding	1/13			chr13	TogoVar
STK38L_chr12_27239286_27330959	27241194	ATATATAT others(115): Show ATATATATTACATATATGACTCTGTATAGTTATATATATTACATATATGA CTCTGTATAGTTATATATATTACATATATGACTCTGTATAGTTATATATA TTACATATATGACTCTGTATAGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0111 a0001c0001t0002g0111	1	374	0.0027	-122	c.-31 others(11): Show c.-3149_-3028del	STK38L	ENSG00000211455.8	transcript	ENST00000389032.8	protein_coding		3091		chr12	TogoVar
STK38L_chr12_27239286_27330959	27241440	ATATATAT others(115): Show ATATATATTACATATATGACTCTGTATAGTTATATATATTACATATATGA CTCTGTATAGTTATATATATTACATATATGACTCTGTATAGTTATATATA TTACATATATGACTCTGTATAGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG01168.hp2 HG02818.hp1 others(15): Show HG00642.hp1 HG01168.hp2 HG02818.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp1 NA18522.hp2 NA18953.hp2 NA18959.hp2 NA18966.hp1 NA18968.hp1 NA19000.hp1 NA19030.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0012 a0001c0001t0001 a0001c0001t0008 a0001c0001t0012	a0001c0001t0001g0003 a0001c0001t0001g0283 a0001c0001t0001g0286 others(14): Show a0001c0001t0001g0003 a0001c0001t0001g0283 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0289 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0307 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0008g0280 a0001c0001t0012g0295	18	374	0.0481	-122	c.-29 others(11): Show c.-2903_-2782del	STK38L	ENSG00000211455.8	transcript	ENST00000389032.8	protein_coding		2845		chr12	TogoVar
STK38L_chr12_27239286_27330959	27241533	ATATATAT others(115): Show ATATATATTACATATATGACTCTGTATAGTTATATATTACATATATGACT CTGTATAGTTATATATATTACATATATGACTCTGTATAGTTATATATATT ACATATATGACTCTGTATAGTTA	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0311 a0001c0001t0001g0311	1	374	0.0027	-122	c.-28 others(11): Show c.-2810_-2689del	STK38L	ENSG00000211455.8	transcript	ENST00000389032.8	protein_coding		2752		chr12	TogoVar
SWAP70_chr11_9659077_9757993	9706130	CTGGTGAT others(115): Show CTGGTGATCTGTATACACTGGTGATCTGTGTATACTTGGTGATCTGTATA CACTGGTGATCTGTGTATACTTGGTGATCTGTATACACTGGTGATCTGTA TACACTGGTGATCTGTGTATACT	C C	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG03453.hp1 HG02698.hp2 HG03453.hp1	a0002 a0002	a0002c0001 a0002c0004 a0002c0001 a0002c0004	a0002c0001t0001 a0002c0004t0005 a0002c0001t0001 a0002c0004t0005	a0002c0001t0001g0269 a0002c0004t0005g0094 a0002c0001t0001g0269 a0002c0004t0005g0094	2	294	0.0068	-122	c.241 others(17): Show c.241-7272_241-7151del	SWAP70	ENSG00000133789.15	transcript	ENST00000318950.11	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
TAF13_chr1_109059140_109081003	109071961	TATATATA others(115): Show TATATATATATATATACACACATATATATATATATATATATATATATATA TATACACACACATATATATATATATATATATATACACACACATATATATA TATATATATATATATACACACAC	T T	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0124 a0001c0001t0002g0124	1	414	0.0024	-122	c.106 others(17): Show c.106+2904_106+3025del	TAF13	ENSG00000197780.11	transcript	ENST00000338366.6	protein_coding	2/3			chr1	TogoVar
TARS3_chr15_101648596_101729473	101692256	CCTCTCCT others(115): Show CCTCTCCTCCACGGCTCCAAGCTCTCTGTGGGTTCTGGTATTACTACTCC ATCTCCTCACTTCTCTCCTCCACGGCTCCAAGCTCTCTGTGGGTTCTGGT ATTACTACTCCATCTCCTCACTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00609.hp2 others(82): Show HG00280.hp1 HG00408.hp2 HG00609.hp2 HG00621.hp2 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01070.hp2 HG01074.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01516.hp2 HG01891.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG02027.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02273.hp1 HG02280.hp1 HG02735.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02970.hp1 HG03098.hp2 HG03225.hp2 HG03239.hp2 HG03492.hp2 HG03669.hp1 HG03688.hp1 HG03927.hp1 HG04184.hp1 HG04204.hp1 HG04228.hp1 NA18940.hp1 NA18945.hp2 NA18948.hp2 NA18952.hp1 NA18954.hp1 NA18956.hp1 NA18963.hp1 NA18985.hp2 NA18988.hp1 NA18988.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp2 NA18995.hp1 NA19001.hp2 NA19005.hp1 NA19009.hp2 NA19011.hp1 NA19055.hp2 NA19057.hp2 NA19062.hp1 NA19063.hp1 NA19068.hp1 NA19070.hp1 NA19079.hp1 NA19079.hp2 NA19082.hp1 NA19083.hp1 NA19085.hp2 NA19086.hp2 NA19091.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0005 a0002c0002 others(3): Show a0001c0001 a0001c0005 a0002c0002 a0002c0013 a0002c0014 a0003c0003	a0001c0001t0002 a0001c0005t0001 a0001c0005t0002 others(5): Show a0001c0001t0002 a0001c0005t0001 a0001c0005t0002 a0002c0002t0001 a0002c0002t0005 a0002c0013t0005 a0002c0014t0001 a0003c0003t0002	a0001c0001t0002g0081 a0001c0005t0001g0052 a0001c0005t0001g0115 others(75): Show a0001c0001t0002g0081 a0001c0005t0001g0052 a0001c0005t0001g0115 a0001c0005t0002g0040 a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0125 a0002c0002t0001g0127 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0136 a0002c0002t0001g0137 a0002c0002t0001g0138 a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0148 a0002c0002t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0156 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0165 a0002c0002t0001g0166 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0190 a0002c0002t0001g0194 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0201 a0002c0002t0001g0204 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0207 a0002c0002t0001g0208 a0002c0002t0005g0146 a0002c0002t0005g0155 a0002c0002t0005g0187 a0002c0002t0005g0189 a0002c0013t0005g0126 a0002c0014t0001g0167 a0003c0003t0002g0248 a0003c0003t0002g0249	85	278	0.3058	-122	c.132 others(19): Show c.1321-6316_1321-6195del	TARS3	ENSG00000185418.16	transcript	ENST00000335968.8	protein_coding	10/18			chr15	TogoVar
TARS3_chr15_101648596_101729473	101692450	CGGCTCCA others(115): Show CGGCTCCAAGCTCTCTGTGGGTTCTGGTATTACTACTCCATCTCCTCACT TCTCTCCTCCACGGCTCCAAGCTCTCTGTGGGTTCTGGTATTACTACTCC ATCTCCTCACTTCTCTCCTCCAT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00733.hp1 HG02055.hp2 others(7): Show HG00323.hp2 HG00733.hp1 HG02055.hp2 HG02735.hp1 HG02886.hp2 HG02965.hp1 HG03017.hp2 HG03688.hp2 HG03831.hp2 NA20905.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0004 a0003c0003 others(1): Show a0001c0001 a0002c0004 a0003c0003 a0003c0016	a0001c0001t0008 a0002c0004t0008 a0003c0003t0002 others(1): Show a0001c0001t0008 a0002c0004t0008 a0003c0003t0002 a0003c0016t0002	a0001c0001t0008g0059 a0001c0001t0008g0111 a0002c0004t0008g0116 others(6): Show a0001c0001t0008g0059 a0001c0001t0008g0111 a0002c0004t0008g0116 a0003c0003t0002g0012 a0003c0003t0002g0224 a0003c0003t0002g0225 a0003c0003t0002g0227 a0003c0003t0002g0247 a0003c0016t0002g0251	10	278	0.0360	-122	c.132 others(19): Show c.1321-6510_1321-6389del	TARS3	ENSG00000185418.16	transcript	ENST00000335968.8	protein_coding	10/18			chr15	TogoVar
TENM2_chr5_166974029_168269157	167974221	GAGGGAGG others(115): Show GAGGGAGGAAGGAAGGAAGGAAGGGAAGGAAGGAAGGGAGGAAAGGAGGG AGGAAGGAAGGAAGGAAGGAAGGAAGGGAAGGAAGGAAGGGAGGAAAGGA GGGAGGAAGGAAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0007 a0001c0003t0002g0007	1	54	0.0185	-122	c.948 others(19): Show c.948-18719_948-18598del	TENM2	ENSG00000145934.17	transcript	ENST00000518659.6	protein_coding	6/30		INFO_REALIGN_3_PRIME	chr5	TogoVar
TFDP1_chr13_113579753_113646473	113583847	TAGTGCAC others(115): Show TAGTGCACACACCAGTCCCCGCTCCCTCACATGCACACACTAGTGCACAC ACCAGTCCCCGCTCCCTCACATGCACACACTAGTGCACACACCAGTCCCC GCTCCCTCACATGCACACACACG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG02698.hp1 HG02735.hp1 others(2): Show HG00099.hp1 HG02698.hp1 HG02735.hp1 HG03669.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0223 a0001c0001t0001g0226 others(2): Show a0001c0001t0001g0220 a0001c0001t0001g0223 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228	5	348	0.0144	-122	c.-11 others(10): Show c.-1105_-984del	TFDP1	ENSG00000198176.13	transcript	ENST00000375370.10	protein_coding		905		chr13	TogoVar
THSD7B_chr2_136760545_137682718	136890382	CCTCTTCC others(115): Show CCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTTTCTTCTCCTTTCTTCT CCTTTCTTCTCCTTTCTTCTCCT	C C	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0003 a0006c0011t0003	a0006c0011t0003g0092 a0006c0011t0003g0092	1	98	0.0102	-122	c.139 others(17): Show c.139+8066_139+8187del	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	2/27			chr2	TogoVar
TMEM132D_chr12_129066726_129909025	129087926	GGGTGTCC others(115): Show GGGTGTCCTCCATGACCGGGGTGTCCTCCCTGACCGGGGTGTCCTCCATG ACCGGGTGTCCTCCATGACCGGGGTGTCCTCCATGACCGGGTGTCCTCCA TGACCGGGGTGTCCTCTATGACC	G G	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0004 a0007c0008t0004	a0007c0008t0004g0047 a0007c0008t0004g0047	1	94	0.0106	-122	c.144 others(19): Show c.1444-3346_1444-3225del	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	5/8			chr12	TogoVar
TMEM184B_chr22_38214291_38278010	38245257	CCCTGCCT others(115): Show CCCTGCCTGAGACGCCAGCATTGAGAAGCGAGACCCAGGGGGAGGGCCCT TGCTTCCAGGTACCTGCCTGAGACGCCAGCATTGAGAAGCGAGACCCAGG TGGAGGGCCCTTGCTTCCAGGTA	C C	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01346.hp2 HG03195.hp1 HG00733.hp1 HG01346.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0033 a0001c0001t0001 a0001c0001t0002 a0001c0001t0033	a0001c0001t0001g0130 a0001c0001t0002g0129 a0001c0001t0033g0081 a0001c0001t0001g0130 a0001c0001t0002g0129 a0001c0001t0033g0081	3	354	0.0085	-122	c.358 others(15): Show c.358+556_358+677del	TMEM184B	ENSG00000198792.13	transcript	ENST00000361906.8	protein_coding	3/8			chr22	TogoVar
TMEM184B_chr22_38214291_38278010	38245547	CCCTTGCT others(115): Show CCCTTGCTTCCAGGTACCTGCCTGAGACGCCAGCATTGAGAAGCGAGACC CAGGTGGAGGGCCCTTGCTTCCAGGTACCTGCCTGAGACGCCAGCATTGA GAAGCGAGACCCAGGTGGAGGGT	C C	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0028 a0001c0004t0028	a0001c0004t0028g0283 a0001c0004t0028g0283	1	354	0.0028	-122	c.358 others(15): Show c.358+266_358+387del	TMEM184B	ENSG00000198792.13	transcript	ENST00000361906.8	protein_coding	3/8			chr22	TogoVar
TMEM255B_chr13_113754226_113821995	113807689	AGGCTTAC others(115): Show AGGCTTACGGGATGTGGGGGTGGTCCTCCCTGTCACACGTGGGCTTATGG GATGTGGGGGGTAGTCCTCCCCGTCACACGCAGGCTTACGGGATGTGGGG GGCGGTCCTCCCTATCACAGGAG	A A	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0042 a0001c0022t0042	a0001c0022t0042g0235 a0001c0022t0042g0235	1	260	0.0039	-122	c.813 others(17): Show c.813+2681_813+2802del	TMEM255B	ENSG00000184497.13	transcript	ENST00000375353.5	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
TMPRSS2_chr21_41459305_41513158	41474968	GGTGAGGT others(115): Show GGTGAGGTGGTGAGTGAGGGGGTGAGGGGTGAGTGAGGGGGGTGAGGGGT AAGGAGGTGAGGGGGTGGGTGAGGGGTGGGTGAGGTGGTGGGTGAGGGGG TGAAGGGGTGAGTGAGGGGGTGA	G G	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0313 a0001c0001t0016g0313	1	382	0.0026	-122	c.727 others(17): Show c.727+1487_728-1473del	TMPRSS2	ENSG00000184012.14	transcript	ENST00000332149.10	protein_coding	8/13			chr21	TogoVar
TOP1MT_chr8_143304324_143339880	143307518	CGGCAGAG others(115): Show CGGCAGAGGGTCCCGCGTGGCAGAGAGGGCAGCAGAGGGTCCCGCGTGGC AGAGGAGAGGGCAGCAGAGGGTCCCGTGTGGCAGAGAAGAGGGCGGCAGA GGGTCCTGCGTGGCAGAGAGGGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0267	1	430	0.0023	-122	c.18 others(11): Show c.1801_*1922del	TOP1MT	ENSG00000184428.13	transcript	ENST00000329245.9	protein_coding		1805		chr8	TogoVar
TRIML1_chr4_188134441_188152743	188152428	GGGGTTGA others(115): Show GGGGTTGAGAAGGGGAGTGAGAGAGAGGGTGAGAAGGGGAGTGAGAGTGG GGGTGAGAAGGGGAGTGAGAGAGGGGGTGAGAAGGGAAGTGAGAGTGGGG GTTGAGAAGGGGAGTGAGAGAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 NA19004.hp2 HG01243.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0096 a0001c0001t0001g0002 a0001c0001t0001g0096	2	228	0.0088	-122	c.50 others(11): Show c.5057_*5178del	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		4686		chr4	TogoVar
TUBGCP2_chr10_133273635_133313872	133291240	TCCGTGTC others(115): Show TCCGTGTCCCCCATGTCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCTG TGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACCGTCCGT GTCCCCCATGTCCCTCCGTGTCC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01261.hp2 HG01978.hp2 others(9): Show HG01109.hp2 HG01261.hp2 HG01978.hp2 HG02004.hp2 HG02015.hp2 HG02148.hp1 HG02257.hp1 HG02622.hp1 HG03041.hp2 HG03540.hp1 HG06807.hp1 NA19065.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0002t0003 a0001c0004t0002 others(1): Show a0001c0001t0001 a0001c0002t0003 a0001c0004t0002 a0002c0003t0002	a0001c0001t0001g0028 a0001c0001t0001g0100 a0001c0002t0003g0032 others(9): Show a0001c0001t0001g0028 a0001c0001t0001g0100 a0001c0002t0003g0032 a0001c0002t0003g0044 a0001c0002t0003g0057 a0001c0002t0003g0058 a0001c0002t0003g0059 a0001c0002t0003g0061 a0001c0004t0002g0023 a0001c0004t0002g0026 a0001c0004t0002g0035 a0002c0003t0002g0247	12	284	0.0423	-122	c.121 others(19): Show c.1214+1137_1214+1258del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
TXK_chr4_48061393_48139250	48104270	TATAATAT others(115): Show TATAATATATAATATATATAATATATAATATAATATATAATATATATAAT ATATAATATAATATATAATATATATAATATATAATATAATATATAATATA TATAATATATAATATTATATATA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0033 a0001c0016t0001g0033	1	362	0.0028	-122	c.501 others(15): Show c.501+509_501+630del	TXK	ENSG00000074966.11	transcript	ENST00000264316.9	protein_coding	6/14			chr4	TogoVar
UCKL1_chr20_63934829_63961416	63941959	TGGGTGTG others(115): Show TGGGTGTGGCAGGGCAGAAAAGAGGCGTGACAGCGGCAGGGAAAGGGGCG GGGCCGGGAATGGGGTGTGGCAGGGCAGAAAAGAGGCGTGACAGCGGCAG GGAAAGGGGCGGGGCCGGGAATG	T T	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp2 HG01071.hp2 others(6): Show HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01109.hp2 HG01123.hp2 HG01515.hp1 HG02698.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0007 a0001c0001t0001g0093 a0001c0001t0001g0149 others(5): Show a0001c0001t0001g0007 a0001c0001t0001g0093 a0001c0001t0001g0149 a0001c0001t0001g0218 a0001c0001t0001g0221 a0001c0001t0001g0276 a0001c0001t0001g0279 a0001c0007t0001g0104	9	356	0.0253	-122	c.924 others(15): Show c.924-873_924-752del	UCKL1	ENSG00000198276.16	transcript	ENST00000354216.11	protein_coding	8/14			chr20	TogoVar
UCKL1_chr20_63934829_63961416	63942199	GAATGGGG others(115): Show GAATGGGGTGTGGCAGGGCAGAAAAGAGGCGTGACAGCGGCAGGGAAAGG GGCGGGGCCGGGAATGGGGTGTGGCAGGGCAGAAAAGAGGCGTGACAGCG GCAGGGAAAGGGGCGGGGCCGGA	G G	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	356	0.0028	-122	c.924 others(16): Show c.924-1113_924-992del	UCKL1	ENSG00000198276.16	transcript	ENST00000354216.11	protein_coding	8/14			chr20	TogoVar
VGLL4_chr3_11551069_11648915	11605039	GCCACGCC others(115): Show GCCACGCCCCCGCCCACCCCCAATCCTCCACAGCTCTGTGAATTCCATCT TCCAAAGCGCCCCCACGCCCACCCCCCACCCCCAATCCTCCACAGCTCTG TGAATTCCATCTTCCAAAGCGCC	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01993.hp2 HG02155.hp2 others(3): Show HG00735.hp1 HG01993.hp2 HG02155.hp2 HG02886.hp2 NA18957.hp1 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0037	a0001c0001t0001g0085 a0001c0001t0002g0268 a0001c0001t0002g0293 others(3): Show a0001c0001t0001g0085 a0001c0001t0002g0268 a0001c0001t0002g0293 a0001c0001t0002g0379 a0001c0001t0004g0273 a0001c0002t0037g0253	6	388	0.0155	-122	c.83- others(15): Show c.83-3139_83-3018del	VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	1/4			chr3	TogoVar
WBP11_chr12_14779582_14808478	14792452	AGTAAAAA others(115): Show AGTAAAAACTCAATAAATATTAGCTGAGTGAGTATCAACTCAGAGTTGGG ACGGCCATTTTCAGAACATGTGTGTTGATGAGAATATATAAGAAAAATCT GGCTGGGTTGGTGGCTCATGCCT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp1 HG00639.hp1 others(32): Show HG00099.hp1 HG00438.hp1 HG00639.hp1 HG00741.hp1 HG01070.hp2 HG01074.hp1 HG01106.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01256.hp2 HG01258.hp1 HG01515.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02165.hp2 HG02293.hp2 HG02300.hp1 HG02698.hp1 HG02738.hp2 HG02896.hp1 HG03017.hp1 HG03017.hp2 HG03130.hp2 NA18906.hp1 NA18977.hp2 NA19004.hp2 NA19077.hp1 NA19078.hp1 NA19240.hp1 NA20129.hp2 NA20905.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0004 a0001c0001 a0008c0004	a0001c0001t0005 a0001c0001t0011 a0001c0001t0014 others(1): Show a0001c0001t0005 a0001c0001t0011 a0001c0001t0014 a0008c0004t0011	a0001c0001t0005g0005 a0001c0001t0005g0010 a0001c0001t0005g0036 others(9): Show a0001c0001t0005g0005 a0001c0001t0005g0010 a0001c0001t0005g0036 a0001c0001t0005g0114 a0001c0001t0005g0115 a0001c0001t0005g0116 a0001c0001t0005g0117 a0001c0001t0011g0022 a0001c0001t0011g0044 a0001c0001t0014g0074 a0001c0001t0014g0075 a0008c0004t0011g0054	35	386	0.0907	-122	c.913 others(17): Show c.913+1157_914-1183del	WBP11	ENSG00000084463.8	transcript	ENST00000261167.7	protein_coding	8/11			chr12	TogoVar
ZC3H12D_chr6_149441795_149490014	149444135	TCAGCCAG others(115): Show TCAGCCAGTGTGTCAGTCAGCCAGTGTTAGTCAGCCAGTGTGTCAGTCAG CCAGTGTCAGCCACCCAGTGTCAGTCAGCCAGTGTGTCAGCCACTGTCAG CCAATGTCAGCCAGTGTGTCAGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00408.hp1 others(218): Show HG00099.hp1 HG00140.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01099.hp2 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02818.hp1 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03098.hp2 HG03453.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 NA18612.hp1 NA18612.hp2 NA18941.hp1 NA18942.hp1 NA18944.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18969.hp2 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp2 NA18985.hp1 NA18990.hp2 NA18993.hp1 NA18994.hp1 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19063.hp2 NA19064.hp1 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19078.hp2 NA19079.hp2 NA19080.hp1 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0006 a0007 a0009 a0012 a0013 a0014 a0016 a0017 a0019 a0021 a0022 a0023 a0025 a0027	a0001c0001 a0001c0017 a0001c0035 others(18): Show a0001c0001 a0001c0017 a0001c0035 a0001c0039 a0002c0002 a0002c0037 a0003c0003 a0006c0009 a0007c0010 a0009c0011 a0012c0016 a0013c0014 a0014c0018 a0016c0024 a0017c0034 a0019c0027 a0021c0029 a0022c0038 a0023c0028 a0025c0021 a0027c0036	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(69): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0019 a0001c0001t0029 a0001c0001t0033 a0001c0001t0034 a0001c0001t0040 a0001c0001t0044 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0069 a0001c0001t0075 a0001c0001t0087 a0001c0001t0090 a0001c0001t0091 a0001c0001t0092 a0001c0001t0093 a0001c0001t0094 a0001c0001t0095 a0001c0001t0096 a0001c0001t0097 a0001c0001t0099 a0001c0001t0103 a0001c0001t0104 a0001c0001t0106 a0001c0017t0107 a0001c0035t0036 a0001c0039t0100 a0002c0002t0065 a0002c0002t0074 a0002c0037t0017 a0003c0003t0007 a0003c0003t0008 a0003c0003t0017 a0003c0003t0023 a0003c0003t0028 a0003c0003t0039 a0003c0003t0041 a0003c0003t0043 a0003c0003t0045 a0003c0003t0060 a0003c0003t0062 a0003c0003t0063 a0003c0003t0064 a0003c0003t0070 a0003c0003t0073 a0003c0003t0085 a0006c0009t0007 a0007c0010t0027 a0007c0010t0038 a0009c0011t0004 a0009c0011t0006 a0012c0016t0037 a0013c0014t0003 a0013c0014t0105 a0014c0018t0009 a0016c0024t0101 a0017c0034t0027 a0019c0027t0053 a0021c0029t0003 a0022c0038t0003 a0023c0028t0004 a0025c0021t0006 a0027c0036t0036	a0001c0001t0003g0009 a0001c0001t0003g0012 a0001c0001t0003g0013 others(195): Show a0001c0001t0003g0009 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0053 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0075 a0001c0001t0003g0079 a0001c0001t0003g0082 a0001c0001t0003g0096 a0001c0001t0003g0098 a0001c0001t0003g0102 a0001c0001t0003g0105 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0201 a0001c0001t0003g0248 a0001c0001t0003g0265 a0001c0001t0003g0267 a0001c0001t0003g0283 a0001c0001t0003g0310 a0001c0001t0003g0311 a0001c0001t0004g0001 a0001c0001t0004g0019 a0001c0001t0004g0081 a0001c0001t0004g0088 a0001c0001t0004g0225 a0001c0001t0004g0247 a0001c0001t0004g0260 a0001c0001t0004g0262 a0001c0001t0004g0286 a0001c0001t0004g0288 a0001c0001t0004g0289 a0001c0001t0004g0292 a0001c0001t0004g0293 a0001c0001t0004g0297 a0001c0001t0004g0299 a0001c0001t0004g0303 a0001c0001t0004g0304 a0001c0001t0004g0308 a0001c0001t0004g0315 a0001c0001t0004g0316 a0001c0001t0004g0317 a0001c0001t0006g0015 a0001c0001t0006g0030 a0001c0001t0006g0034 a0001c0001t0006g0226 a0001c0001t0006g0250 a0001c0001t0006g0251 a0001c0001t0006g0252 a0001c0001t0006g0291 a0001c0001t0006g0301 a0001c0001t0006g0340 a0001c0001t0006g0354 a0001c0001t0006g0355 a0001c0001t0006g0359 a0001c0001t0009g0054 a0001c0001t0009g0064 a0001c0001t0009g0072 a0001c0001t0009g0078 a0001c0001t0009g0124 a0001c0001t0009g0125 a0001c0001t0009g0200 a0001c0001t0010g0014 a0001c0001t0010g0016 a0001c0001t0010g0074 a0001c0001t0010g0087 a0001c0001t0010g0094 a0001c0001t0011g0029 a0001c0001t0011g0058 a0001c0001t0011g0245 a0001c0001t0011g0246 a0001c0001t0011g0313 a0001c0001t0011g0344 a0001c0001t0014g0284 a0001c0001t0014g0290 a0001c0001t0014g0298 a0001c0001t0014g0300 a0001c0001t0014g0309 a0001c0001t0014g0356 a0001c0001t0015g0261 a0001c0001t0015g0294 a0001c0001t0015g0295 a0001c0001t0015g0296 a0001c0001t0015g0306 a0001c0001t0015g0318 a0001c0001t0019g0065 a0001c0001t0019g0066 a0001c0001t0019g0067 a0001c0001t0019g0266 a0001c0001t0019g0268 a0001c0001t0029g0186 a0001c0001t0029g0210 a0001c0001t0029g0282 a0001c0001t0033g0091 a0001c0001t0033g0272 a0001c0001t0033g0312 a0001c0001t0034g0076 a0001c0001t0034g0092 a0001c0001t0034g0264 a0001c0001t0040g0083 a0001c0001t0040g0279 a0001c0001t0044g0254 a0001c0001t0044g0281 a0001c0001t0049g0097 a0001c0001t0049g0100 a0001c0001t0050g0073 a0001c0001t0050g0077 a0001c0001t0051g0287 a0001c0001t0051g0302 a0001c0001t0052g0059 a0001c0001t0052g0152 a0001c0001t0069g0280 a0001c0001t0075g0128 a0001c0001t0087g0278 a0001c0001t0090g0229 a0001c0001t0091g0228 a0001c0001t0092g0352 a0001c0001t0093g0319 a0001c0001t0094g0338 a0001c0001t0095g0227 a0001c0001t0096g0099 a0001c0001t0097g0305 a0001c0001t0099g0307 a0001c0001t0103g0353 a0001c0001t0104g0270 a0001c0001t0106g0085 a0001c0017t0107g0057 a0001c0035t0036g0117 a0001c0039t0100g0271 a0002c0002t0065g0218 a0002c0002t0074g0137 a0002c0037t0017g0349 a0003c0003t0007g0005 a0003c0003t0007g0153 a0003c0003t0007g0154 a0003c0003t0007g0165 a0003c0003t0008g0121 a0003c0003t0008g0166 a0003c0003t0008g0169 a0003c0003t0008g0171 a0003c0003t0008g0173 a0003c0003t0008g0175 a0003c0003t0008g0177 a0003c0003t0008g0241 a0003c0003t0008g0242 a0003c0003t0017g0052 a0003c0003t0017g0167 a0003c0003t0017g0330 a0003c0003t0017g0331 a0003c0003t0023g0150 a0003c0003t0023g0151 a0003c0003t0023g0164 a0003c0003t0028g0023 a0003c0003t0028g0198 a0003c0003t0039g0022 a0003c0003t0041g0160 a0003c0003t0041g0161 a0003c0003t0043g0048 a0003c0003t0043g0109 a0003c0003t0045g0174 a0003c0003t0045g0179 a0003c0003t0060g0168 a0003c0003t0062g0172 a0003c0003t0063g0197 a0003c0003t0064g0170 a0003c0003t0070g0157 a0003c0003t0073g0176 a0003c0003t0085g0162 a0006c0009t0007g0021 a0006c0009t0007g0158 a0006c0009t0007g0159 a0006c0009t0007g0163 a0007c0010t0027g0230 a0007c0010t0027g0333 a0007c0010t0038g0231 a0007c0010t0038g0232 a0009c0011t0004g0089 a0009c0011t0004g0285 a0009c0011t0006g0090 a0012c0016t0037g0332 a0012c0016t0037g0341 a0013c0014t0003g0071 a0013c0014t0105g0095 a0014c0018t0009g0263 a0016c0024t0101g0314 a0017c0034t0027g0342 a0019c0027t0053g0038 a0021c0029t0003g0269 a0022c0038t0003g0080 a0023c0028t0004g0339 a0025c0021t0006g0357 a0027c0036t0036g0118	221	412	0.5364	-122	c.64 others(11): Show c.6426_*6547del	ZC3H12D	ENSG00000178199.14	transcript	ENST00000409806.8	protein_coding		2659		chr6	TogoVar
ZCCHC7_chr9_37115574_37363149	37187716	AAAAGATG others(115): Show AAAAGATGCAAATGGCAGTTTTATGAAGTCTTTTTGCCCTGTTTTGTGTT GGGTGTTCAGTACAGATGCAATTTTTTTTTTTTTAAATTTTCGATACAGG GTTGGTTGAATCCACTGTTGTGG	A A	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0280 a0001c0001t0001g0280	1	282	0.0036	-122	c.610 others(19): Show c.610+60777_610+60898del	ZCCHC7	ENSG00000147905.18	transcript	ENST00000336755.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
ZDHHC4_chr7_6572454_6594374	6577123	TAAATAAA others(115): Show TAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAATA AAATAAAATAAATAAAATAAAATAAATAAAATAAAATAAATAAAATAAAA TAAATAAAATAAAATAAAATAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG06807.hp1 HG03471.hp1 HG06807.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0026 a0002c0002t0001g0026	2	408	0.0049	-122	c.-53 others(9): Show c.-537_-416del	ZDHHC4	ENSG00000136247.15	transcript	ENST00000335965.11	protein_coding		330		chr7	TogoVar
ZNF430_chr19_21015657_21065050	21019565	TAAATATA others(115): Show TAAATATATATAAATATATAAATATATATATATAAATATATAAATATATA AATATATATATATAAATATATAAATATTTATATATAAATATATATAAATA TATAAATATATATAAATATATAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0241 a0001c0001t0004g0241	1	298	0.0034	-122	c.-12 others(11): Show c.-1235_-1114del	ZNF430	ENSG00000118620.13	transcript	ENST00000261560.10	protein_coding		1091		chr19	TogoVar
ZNF732_chr4_265675_310474	299382	TACACATA others(115): Show TACACATATGTACACATATGTGTATATATATATACACATATATACACATA TGTGTATATATATATATATACACATATGTGTATATATATATACACATATA TACACATATGTGTGTATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01069.hp1 HG01884.hp1 others(16): Show HG00733.hp2 HG01069.hp1 HG01884.hp1 HG02083.hp2 HG02165.hp2 HG02970.hp2 HG03130.hp1 HG03491.hp2 HG03516.hp1 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03942.hp1 HG04199.hp2 HG04228.hp1 NA18980.hp1 NA19043.hp1 NA19055.hp2 NA19065.hp2	a0002 a0007 a0002 a0007	a0002c0002 a0007c0009 a0002c0002 a0007c0009	a0002c0002t0001 a0007c0009t0001 a0002c0002t0001 a0007c0009t0001	a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 others(15): Show a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0250 a0007c0009t0001g0009	19	326	0.0583	-122	c.4-3 others(13): Show c.4-3349_4-3228del	ZNF732	ENSG00000186777.13	transcript	ENST00000419098.6	protein_coding	1/3			chr4	TogoVar
ZNF878_chr19_12038805_12057961	12057402	GCCTGGGC others(115): Show GCCTGGGCAACAAGAGTGAAACTCAGTCTCAAAAAAAAAAAAAAAAAAAA ATTAGCCAGGCGAATAGCTTGAACCTGAGAGGTGGAGGTTGCAGTGAGCC GAGATGGCACCACTGCACTCCAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	346	0.0029	-122	c.-47 others(11): Show c.-4723_-4602del	ZNF878	ENSG00000257446.4	transcript	ENST00000547628.2	protein_coding		4442		chr19	TogoVar
ABCC1_chr16_15944616_16148053	16058973	AACTCAGC others(114): Show AACTCAGCTTTCTGGGCCCCACCCAAATTTTCAGTTTTAGTAGGTCTGGT TGGGGCCTGAGTATTTGCTTTCCTAACATATCCCTAGGTGCTGCTGCTTC TGGTTCAGGTTGACATGTAGAG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02451.hp1 HG02055.hp1 HG02451.hp1	a0001 a0007 a0001 a0007	a0001c0017 a0007c0016 a0001c0017 a0007c0016	a0001c0017t0002 a0007c0016t0006 a0001c0017t0002 a0007c0016t0006	a0001c0017t0002g0007 a0007c0016t0006g0088 a0001c0017t0002g0007 a0007c0016t0006g0088	2	249	0.0080	-121	c.167 others(19): Show c.1677+2681_1677+2801del	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	12/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCG1_chr21_42214140_42302244	42283723	ACCCAGAT others(114): Show ACCCAGATGAGTGGGGACCCCCCACCTCTGTCCTGCCTGGACAGTTGTGA AGTACCCCCCAACCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGCCT GGACAGTTGCAAAGTCCCCCCG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01934.hp2 HG02486.hp2 others(4): Show HG00738.hp1 HG01934.hp2 HG02486.hp2 HG02572.hp2 HG02818.hp1 HG03704.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0028 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0028 a0001c0002t0002 a0001c0008t0011	a0001c0001t0001g0096 a0001c0001t0003g0234 a0001c0001t0003g0298 others(4): Show a0001c0001t0001g0096 a0001c0001t0003g0234 a0001c0001t0003g0298 a0001c0001t0003g0310 a0001c0001t0028g0306 a0001c0002t0002g0282 a0001c0008t0011g0042	7	354	0.0198	-121	c.735 others(15): Show c.735-814_735-694del	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr21	TogoVar
ABCG1_chr21_42214140_42302244	42283800	ACCCCCCC others(114): Show ACCCCCCCACCTCTGTCCCGCCTGGACAGTTGCAAAGTCCCCCCGCCCAG ATGAGTGGGGACCCCCCCACCTCTGTCCCGCCTGGACAGTTGCAAAGTCC CCCCGCCCAGATGAGTGGGGAC	A A	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0013 a0001c0001t0005g0013	1	354	0.0028	-121	c.735 others(15): Show c.735-753_735-633del	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr21	TogoVar
ABCG1_chr21_42214140_42302244	42283837	TCCCCCCG others(114): Show TCCCCCCGCCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGCCTGGAC AGTTGCAAAGTCCCCCCGCCCAGATGAGTGGGGACCCCCCCACCTCTGTC CCGCCTGGACAGTTGCGAAGTC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00735.hp1 others(16): Show HG00280.hp1 HG00323.hp2 HG00735.hp1 HG00741.hp2 HG01099.hp1 HG01099.hp2 HG01175.hp1 HG01981.hp2 HG02129.hp1 HG02602.hp1 HG02735.hp1 HG03654.hp2 HG03710.hp1 NA18962.hp2 NA18969.hp2 NA18971.hp2 NA18977.hp1 NA18987.hp1 NA19063.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0009 a0001c0001 a0002c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 a0002c0009t0003	a0001c0001t0001g0161 a0001c0001t0001g0165 a0001c0001t0001g0238 others(16): Show a0001c0001t0001g0161 a0001c0001t0001g0165 a0001c0001t0001g0238 a0001c0001t0001g0260 a0001c0001t0002g0075 a0001c0001t0002g0121 a0001c0001t0002g0221 a0001c0001t0002g0237 a0001c0001t0002g0240 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0309 a0001c0001t0003g0261 a0001c0001t0005g0017 a0001c0001t0005g0018 a0001c0001t0005g0020 a0001c0001t0010g0167 a0002c0009t0003g0258	19	354	0.0537	-121	c.735 others(15): Show c.735-667_735-547del	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr21	TogoVar
ACP6_chr1_147637230_147675524	147640559	GCTATATT others(114): Show GCTATATTAGAGTCCCATTGCACAAATAAAGATATACAGGCTTATCAACA GGAAATTAATGGACTTGCCCAAAGTCACACAGGTAGTAGGTACAGGGCAG GACTTGAACTCAGAGCACATGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0039 a0001c0003t0039	a0001c0003t0039g0097 a0001c0003t0039g0097	1	404	0.0025	-121	c.67 others(11): Show c.6743_*6863del	ACP6	ENSG00000162836.12	transcript	ENST00000583509.7	protein_coding		1670		chr1	TogoVar
ACYP2_chr2_53966113_54310300	54095830	CAGAGGGG others(114): Show CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGTGCCCCT CACCTCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGGCCCCCACCTCCT CCCGGATGGGGCGGCTGGCCGG	C C	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0122 a0001c0002t0002g0122	1	272	0.0037	-121	c.277 others(19): Show c.277+38471_277+38591del	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	4/6			chr2	TogoVar

Search by Variant

Search

Search Results