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
COL6A1_chr21_45976770_46010048	45977780	GGGAGGGG others(43): Show GGGAGGGGGAGAGAGGAGGGAGGGGGAGAGAGGAGGGAGGGGGAGAGAGG A	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02148.hp2 NA19005.hp2 HG02148.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0096 a0001c0001t0002g0103 a0001c0001t0002g0096 a0001c0001t0002g0103	2	126	0.0159	-50	c.-40 others(61): Show c.-4070_-4021delGGAGGGGGAGAGAGGAGGGAGGGGGAGAGAGGAG GGAGGGGGAGAGAGGA	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		3989		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45977784	GGGGGAGA others(43): Show GGGGGAGAGAGGAGGGAGGGGGAGAGAGGAGGGAGGGGGAGAGAGGAGGG A	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0033 a0001c0003t0003g0033	1	126	0.0079	-50	c.-40 others(61): Show c.-4066_-4017delGGGGAGAGAGGAGGGAGGGGGAGAGAGGAGGGAG GGGGAGAGAGGAGGGA	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		3985		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45977792	GAGGAGGG others(43): Show GAGGAGGGAGGGGGAGAGAGGAGGGAGGGGGAGAGAGGAGGGAGGGGGAG A	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0013 a0013	a0013c0013 a0013c0013	a0013c0013t0004 a0013c0013t0004	a0013c0013t0004g0018 a0013c0013t0004g0018	1	126	0.0079	-50	c.-40 others(61): Show c.-4058_-4009delAGGAGGGAGGGGGAGAGAGGAGGGAGGGGGAGAG AGGAGGGAGGGGGAGA	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		3977		chr21	TogoVar
COLEC11_chr2_3590112_3649644	3590472	TCGGGCGG others(43): Show TCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG C	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0197 a0002c0006t0001g0197	1	376	0.0027	-50	c.-47 others(61): Show c.-4722_-4673delCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGC	COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding		4639		chr2	TogoVar
COX14_chr12_50107236_50125453	50121886	TCTTCTTT others(43): Show TCTTCTTTCGAGTATGTAAACTTGCTTAAGGCCCTCTATCCCACACCAAA A	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	416	0.0024	-50	c.16 others(61): Show c.1670_*1719delCTTCTTTCGAGTATGTAAACTTGCTTAAGGCCCT CTATCCCACACCAAAA	COX14	ENSG00000178449.9	transcript	ENST00000550487.6	protein_coding		1434		chr12	TogoVar
COX7B2_chr4_46729827_46914245	46759777	TTATCTTA others(43): Show TTATCTTATATAAGTTATATAAGTCATATCTTATATAAGTTATATAAGTC A	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	290	0.0034	-50	c.-49 others(69): Show c.-49-24586_-49-24537delTGACTTATATAACTTATATAAGATAT GACTTATATAACTTATATAAGATA	COX7B2	ENSG00000170516.17	transcript	ENST00000355591.8	protein_coding	2/2			chr4	TogoVar
CPLX1_chr4_779957_831129	826313	CGGGGCGG others(43): Show CGGGGCGGGGGCGGGGGGTGGACCCGGGGGCGGGGGCGGGGGGCGGGGGC G	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0092 a0001c0001t0005g0092	1	195	0.0051	-50	c.-39 others(59): Show c.-397_-348delCGCCCCCGCCCCCCGCCCCCGCCCCCGGGTCCACCC CCCGCCCCCGCCCC	CPLX1	ENSG00000168993.15	transcript	ENST00000304062.11	protein_coding		185		chr4	TogoVar
CPQ_chr8_96640242_97148501	97122974	AATAAAAT others(43): Show AATAAAATTAAAATAAAATAAAATAAAATATAAAATAAAATAAAATAAAA T	A A	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0084 a0001c0002t0001g0084	1	124	0.0081	-50	c.125 others(71): Show c.1256-20044_1256-19995delTAAAATTAAAATAAAATAAAATAA AATATAAAATAAAATAAAATAAAATA	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CRELD2_chr22_49913634_49932537	49926695	CCTCTTGC others(43): Show CCTCTTGCCCCTCCCTCCCCCCCTCTTGCCCCTCCCTCCCCCCACCCCGG G	C C	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0139 a0003c0004t0002g0139	1	322	0.0031	-50	c.101 others(67): Show c.1010-559_1010-510delCTCTTGCCCCTCCCTCCCCCCCTCTTGC CCCTCCCTCCCCCCACCCCGGG	CRELD2	ENSG00000184164.15	transcript	ENST00000328268.9	protein_coding	9/9			chr22	TogoVar
CROCC2_chr2_240901336_240998311	240907900	GCTCTACC others(43): Show GCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTCGGGTGA C	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02922.hp1 NA18906.hp2 HG01884.hp2 HG02922.hp1 NA18906.hp2	a0019 a0029 a0019 a0029	a0019c0017 a0029c0072 a0019c0017 a0029c0072	a0019c0017t0002 a0029c0072t0002 a0019c0017t0002 a0029c0072t0002	a0019c0017t0002g0241 a0019c0017t0002g0243 a0029c0072t0002g0242 a0019c0017t0002g0241 a0019c0017t0002g0243 a0029c0072t0002g0242	3	338	0.0089	-50	c.78+ others(65): Show c.78+1327_78+1376delGGGGTGAGCTCTACCTCCTCCACCTCGGGT GACCTCTACCTCCTCCACCT	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240908200	GCTCTACC others(43): Show GCTCTACCTCCTCCACCTGGGGTGACCTCTACCTCCTCCACCTCGGGTGA C	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00621.hp2 HG01175.hp2 others(2): Show HG00099.hp1 HG00621.hp2 HG01175.hp2 HG01884.hp2 HG02922.hp1	a0001 a0002 a0019 others(1): Show a0001 a0002 a0019 a0029	a0001c0001 a0002c0002 a0019c0017 others(1): Show a0001c0001 a0002c0002 a0019c0017 a0029c0072	a0001c0001t0002 a0002c0002t0002 a0019c0017t0002 others(1): Show a0001c0001t0002 a0002c0002t0002 a0019c0017t0002 a0029c0072t0002	a0001c0001t0002g0250 a0001c0001t0002g0343 a0002c0002t0002g0246 others(2): Show a0001c0001t0002g0250 a0001c0001t0002g0343 a0002c0002t0002g0246 a0019c0017t0002g0243 a0029c0072t0002g0242	5	338	0.0148	-50	c.78+ others(65): Show c.78+1634_78+1683delCCTCTACCTCCTCCACCTCGGGTGACCTCT ACCTCCTCCACCTGGGGTGA	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240908375	GCTCTACC others(43): Show GCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTCGGGTGA C	G G	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01515.hp1 HG02004.hp2 others(5): Show HG01175.hp2 HG01515.hp1 HG02004.hp2 HG02056.hp1 HG03041.hp1 NA18971.hp2 NA18981.hp1 NA20805.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0018	a0001c0001 a0002c0002 a0002c0012 others(2): Show a0001c0001 a0002c0002 a0002c0012 a0004c0004 a0018c0016	a0001c0001t0002 a0002c0002t0002 a0002c0012t0002 others(2): Show a0001c0001t0002 a0002c0002t0002 a0002c0012t0002 a0004c0004t0002 a0018c0016t0002	a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 others(5): Show a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0002c0002t0002g0244 a0002c0002t0002g0255 a0002c0012t0002g0257 a0004c0004t0002g0248 a0018c0016t0002g0245	8	345	0.0232	-50	c.78+ others(65): Show c.78+1802_78+1851delGGGGTGAGCTCTACCTCCTCCACCTCGGGT GACCTCTACCTCCTCCACCT	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240908568	GGCGTGAG others(43): Show GGCGTGAGCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCT C	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00621.hp2 HG02738.hp2 others(2): Show HG00099.hp1 HG00621.hp2 HG02738.hp2 HG03017.hp2 HG03491.hp1	a0001 a0002 a0040 a0001 a0002 a0040	a0001c0001 a0002c0002 a0040c0065 a0001c0001 a0002c0002 a0040c0065	a0001c0001t0002 a0001c0001t0004 a0002c0002t0002 others(1): Show a0001c0001t0002 a0001c0001t0004 a0002c0002t0002 a0040c0065t0002	a0001c0001t0002g0343 a0001c0001t0004g0346 a0002c0002t0002g0238 others(2): Show a0001c0001t0002g0343 a0001c0001t0004g0346 a0002c0002t0002g0238 a0002c0002t0002g0246 a0040c0065t0002g0253	5	348	0.0144	-50	c.78+ others(65): Show c.78+1979_78+2028delCGTGAGCTCTACCTCCTCCACCTGGGGTGA GCTCTACCTCCTCCACCTCG	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240908925	GCTCTACC others(43): Show GCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTGGGGTGA C	G G	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0248 a0004c0004t0002g0248	1	262	0.0038	-50	c.78+ others(65): Show c.78+2352_78+2401delGGGGTGAGCTCTACCTCCTCCACCTGGGGT GACCTCTACCTCCTCCACCT	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240909025	GCTCTACC others(43): Show GCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTCAGGTGA C	G G	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0254 a0001c0001t0002g0254	1	327	0.0031	-50	c.78+ others(65): Show c.78+2477_78+2526delCAGGTGACCTCTACCTCCTCCACCTGGGGT GAGCTCTACCTCCTCCACCT	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240923923	CCCCCACA others(43): Show CCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCACACTGACCCA G	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0026 a0026	a0026c0035 a0026c0035	a0026c0035t0003 a0026c0035t0003	a0026c0035t0003g0233 a0026c0035t0003g0233	1	319	0.0031	-50	c.488 others(67): Show c.488+1283_488+1332delACACTAACCCAGTCCCCACACTAACCCA GTCCCCACACTGACCCAGCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240923928	ACACTAAC others(43): Show ACACTAACCCAGTCCCCACACTAACCCAGTCCCCACACTGACCCAGCCCC C	A A	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02922.hp2 others(1): Show HG02896.hp2 HG02897.hp2 HG02922.hp2 HG03486.hp2	a0014 a0014	a0014c0014 a0014c0014	a0014c0014t0001 a0014c0014t0001	a0014c0014t0001g0019 a0014c0014t0001g0023 a0014c0014t0001g0152 others(1): Show a0014c0014t0001g0019 a0014c0014t0001g0023 a0014c0014t0001g0152 a0014c0014t0001g0153	4	348	0.0115	-50	c.488 others(67): Show c.488+1284_488+1333delCACTAACCCAGTCCCCACACTAACCCAG TCCCCACACTGACCCAGCCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31			chr2	TogoVar
CROCC2_chr2_240901336_240998311	240985258	CCACACAC others(43): Show CCACACACACACCCAGGCACTCCACACACACACACCCAGGCACTCACTCC A	C C	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0290 a0002c0002t0002g0290	1	288	0.0035	-50	c.455 others(69): Show c.4551+2239_4551+2288delACCCAGGCACTCCACACACACACACC CAGGCACTCACTCCACACACACAC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	28/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CRYM_chr16_21253521_21283290	21280172	GAGTTCGA others(43): Show GAGTTCGAGACCAGCCTGGCCAACATGGTAAAATCTTCTCTCTACTAAAA A	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0145 a0001c0002t0001g0145	1	392	0.0026	-50	c.-19 others(61): Show c.-1971_-1922delTTTTTAGTAGAGAGAAGATTTTACCATGTTGGCC AGGCTGGTCTCGAACT	CRYM	ENSG00000103316.12	transcript	ENST00000572914.2	protein_coding		1883		chr16	TogoVar
CSGALNACT1_chr8_19399161_19762277	19666781	AAGAAAGA others(43): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAGA G	A A	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	224	0.0045	-50	c.-39 others(71): Show c.-391-64966_-391-64917delCTCTCTCTCTCTCTCTCTCTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSK_chr15_74777080_74808197	74794250	AGGGGTCC others(43): Show AGGGGTCCCCGCCACCCCCACCCCCACAGCTTACAGTCCACAGGAGGCAG G	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00438.hp1 others(76): Show HG00140.hp1 HG00323.hp2 HG00438.hp1 HG00558.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01175.hp2 HG01192.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01884.hp2 HG01891.hp1 HG02040.hp1 HG02080.hp1 HG02129.hp1 HG02257.hp1 HG02523.hp2 HG02622.hp2 HG02683.hp2 HG02698.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp2 HG03927.hp1 NA18612.hp1 NA18939.hp2 NA18940.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18948.hp1 NA18950.hp1 NA18951.hp1 NA18960.hp2 NA18963.hp2 NA18968.hp1 NA18969.hp1 NA18970.hp2 NA18974.hp2 NA18979.hp1 NA18981.hp1 NA18983.hp2 NA18986.hp1 NA18993.hp2 NA18999.hp2 NA19000.hp2 NA19002.hp2 NA19011.hp2 NA19030.hp1 NA19055.hp1 NA19063.hp2 NA19070.hp1 NA19072.hp1 NA19081.hp1 NA19087.hp1 NA19088.hp1 NA19089.hp1 NA19091.hp2 NA20752.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0010 a0001c0001 a0001c0003 a0001c0010	a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 others(2): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 a0001c0003t0001 a0001c0010t0001	a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0013 others(37): Show a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0089 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0154 a0001c0001t0009g0052 a0001c0001t0010g0040 a0001c0003t0001g0123 a0001c0010t0001g0039	79	392	0.2015	-50	c.-65 others(67): Show c.-65-3980_-65-3931delGGTCCCCGCCACCCCCACCCCCACAGCT TACAGTCCACAGGAGGCAGGGG	CSK	ENSG00000103653.17	transcript	ENST00000220003.14	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
CSMD1_chr8_2930361_4999914	3926032	CACACACA others(43): Show CACACACACACAAACACCATATACACACACACACACACACACAAACACCA T	C C	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA20129.hp1 HG02886.hp1 NA20129.hp1	a0001 a0039 a0001 a0039	a0001c0039 a0039c0010 a0001c0039 a0039c0010	a0001c0039t0064 a0039c0010t0068 a0001c0039t0064 a0039c0010t0068	a0001c0039t0064g0080 a0039c0010t0068g0084 a0001c0039t0064g0080 a0039c0010t0068g0084	2	126	0.0159	-50	c.818 others(69): Show c.818+71821_818+71870delATGGTGTTTGTGTGTGTGTGTGTGTG TGTATATGGTGTTTGTGTGTGTGT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4920892	AAAAGAAA others(43): Show AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAGAGAGAAAGAAA G	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03579.hp1 HG04228.hp2 others(3): Show HG01243.hp2 HG03579.hp1 HG04228.hp2 NA18979.hp2 NA18984.hp2 NA18995.hp2	a0001 a0002 a0007 others(2): Show a0001 a0002 a0007 a0014 a0037	a0001c0003 a0001c0080 a0002c0012 others(3): Show a0001c0003 a0001c0080 a0002c0012 a0007c0116 a0014c0098 a0037c0009	a0001c0003t0011 a0001c0080t0041 a0002c0012t0016 others(3): Show a0001c0003t0011 a0001c0080t0041 a0002c0012t0016 a0007c0116t0004 a0014c0098t0027 a0037c0009t0001	a0001c0003t0011g0026 a0001c0080t0041g0025 a0002c0012t0016g0088 others(3): Show a0001c0003t0011g0026 a0001c0080t0041g0025 a0002c0012t0016g0088 a0007c0116t0004g0039 a0014c0098t0027g0019 a0037c0009t0001g0002	6	112	0.0536	-50	c.85+ others(67): Show c.85+73390_85+73439delCTTTCTTTCTCTCTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69			chr8	TogoVar
CSNK1A1_chr5_149487982_149556439	149542622	ATATATAT others(43): Show ATATATATATATATATATGTATATATATATATATATATATATATATATAT G	A A	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02647.hp1 HG03491.hp1 others(5): Show HG01978.hp1 HG02647.hp1 HG03491.hp1 NA18975.hp1 NA18994.hp1 NA19009.hp2 NA19063.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0018 a0001c0001t0001 a0001c0001t0013 a0001c0001t0018	a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0026 others(5): Show a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0089 a0001c0001t0001g0097 a0001c0001t0001g0112 a0001c0001t0013g0123 a0001c0001t0018g0325	8	377	0.0212	-50	c.230 others(67): Show c.230+7403_230+7452delCATATATATATATATATATATATATATA TATACATATATATATATATATA	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CSTPP1_chr11_46931761_47167247	47038090	GCCGGGCG others(43): Show GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGG C	G G	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00621.hp2 HG00738.hp2 others(27): Show HG00609.hp1 HG00621.hp2 HG00738.hp2 HG01071.hp1 HG01099.hp2 HG01358.hp2 HG01515.hp1 HG02004.hp1 HG02055.hp1 HG02080.hp2 HG02109.hp2 HG02647.hp2 HG02809.hp2 HG02818.hp1 HG03017.hp2 HG03225.hp1 HG03516.hp1 HG03579.hp1 HG03654.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 NA18949.hp1 NA18971.hp2 NA18973.hp1 NA18977.hp2 NA18991.hp1 NA19010.hp1 NA19084.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0009 a0001c0001 a0001c0004 a0002c0009	a0001c0001t0001 a0001c0004t0001 a0002c0009t0001 a0001c0001t0001 a0001c0004t0001 a0002c0009t0001	a0001c0001t0001g0091 a0001c0001t0001g0101 a0001c0001t0001g0102 others(27): Show a0001c0001t0001g0091 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0004t0001g0113 a0002c0009t0001g0088	30	222	0.1351	-50	c.150 others(69): Show c.150-14284_150-14235delTGACCCCCCCACCTCCCTCCCGGATG GGGCGGCTGGCCCGGGCGGGGGGC	CSTPP1	ENSG00000149179.14	transcript	ENST00000278460.12	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
CTNNAL1_chr9_108937577_109018499	109018404	AAATGTTT others(43): Show AAATGTTTTAGTGAATGAATGAATGATTGACTAAAGAAAAACATGAGTTA C	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	418	0.0024	-50	c.-50 others(61): Show c.-5012_-4963delGTAACTCATGTTTTTCTTTAGTCAATCATTCATT CATTCACTAAAACATT	CTNNAL1	ENSG00000119326.15	transcript	ENST00000325551.9	protein_coding		4906		chr9	TogoVar
CTTNBP2_chr7_117705651_117878441	117864843	CTATATTC others(43): Show CTATATTCATATATATTCATTCAATATATATTCATATATATTCATTCAAT A	C C	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02895.hp1 HG02723.hp1 HG02895.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0002 a0001c0006t0001 a0001c0006t0002	a0001c0006t0001g0078 a0001c0006t0002g0079 a0001c0006t0001g0078 a0001c0006t0002g0079	2	130	0.0154	-50	c.82- others(65): Show c.82-3577_82-3528delTATTGAATGAATATATATGAATATATATTG AATGAATATATATGAATATA	CTTNBP2	ENSG00000077063.11	transcript	ENST00000160373.8	protein_coding	1/22			chr7	TogoVar
CTTN_chr11_70393529_70441575	70411185	AGTGCACA others(43): Show AGTGCACACGGACAGACGGAATCCATGTGTTCAGTGCAGCGAGCGAAGCG T	A A	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	284	0.0035	-50	c.291 others(67): Show c.291+1399_291+1448delATGTGTTCAGTGCAGCGAGCGAAGCGTG TGCACACGGACAGACGGAATCC	CTTN	ENSG00000085733.16	transcript	ENST00000301843.13	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr11	TogoVar
CYP17A1_chr10_102825531_102842413	102838437	CGATAAGG others(43): Show CGATAAGGGTCCAACAAAGATCACAAGGCAAAGGGCAAAAGCAGAACCAC T	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 NA21309.hp1 HG02723.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0001 a0001c0002t0002g0028 a0001c0001t0001g0001 a0001c0002t0002g0028	2	434	0.0046	-50	c.-11 others(61): Show c.-1126_-1077delAGTGGTTCTGCTTTTGCCCTTTGCCTTGTGATCT TTGTTGGACCCTTATC	CYP17A1	ENSG00000148795.7	transcript	ENST00000369887.4	protein_coding		1025		chr10	TogoVar
CYP2A7_chr19_40870439_40887231	40880763	CAGGACAG others(43): Show CAGGACAGGTGCAAACTCAGTCAGAGAAACACGAGGGAGAGAGAGAGAGA G	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00733.hp1 HG01123.hp1 others(34): Show HG00323.hp1 HG00733.hp1 HG01123.hp1 HG01167.hp2 HG01169.hp2 HG01256.hp1 HG01433.hp1 HG01433.hp2 HG01891.hp1 HG01928.hp1 HG01975.hp2 HG01981.hp1 HG01993.hp2 HG02027.hp2 HG02074.hp2 HG02080.hp1 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG03098.hp2 HG03130.hp2 HG03239.hp1 HG03540.hp2 HG03654.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG04115.hp2 HG04184.hp1 HG04204.hp1 NA18946.hp1 NA18947.hp2 NA18967.hp2 NA18986.hp1 NA19003.hp2 NA20752.hp2 NA20905.hp1	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0008 a0024	a0001c0001 a0001c0030 a0002c0003 others(5): Show a0001c0001 a0001c0030 a0002c0003 a0002c0008 a0006c0016 a0006c0022 a0008c0007 a0024c0031	a0001c0001t0001 a0001c0001t0002 a0001c0030t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0030t0004 a0002c0003t0001 a0002c0008t0001 a0006c0016t0001 a0006c0022t0002 a0008c0007t0003 a0024c0031t0003	a0001c0001t0001g0003 a0001c0001t0001g0075 a0001c0001t0001g0078 others(11): Show a0001c0001t0001g0003 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0002g0001 a0001c0001t0002g0031 a0001c0001t0002g0051 a0001c0001t0002g0076 a0001c0030t0004g0062 a0002c0003t0001g0002 a0002c0008t0001g0008 a0006c0016t0001g0015 a0006c0022t0002g0028 a0008c0007t0003g0004 a0024c0031t0003g0063	37	202	0.1832	-50	c.344 others(65): Show c.344-185_344-136delCTCTCTCTCTCTCTCCCTCGTGTTTCTCTG ACTGAGTTTGCACCTGTCCT	CYP2A7	ENSG00000198077.11	transcript	ENST00000301146.9	protein_coding	2/8			chr19	TogoVar
CYP7B1_chr8_64585851_64803737	64686051	GGGGGGGG others(43): Show GGGGGGGGTCAGCCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGG T	G G	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	256	0.0039	-50	c.123 others(69): Show c.123-61562_123-61513delACCTCCCTCCCGGACGGGGCGGCTGG CCGGGTGGGGGGGCTGACCCCCCC	CYP7B1	ENSG00000172817.4	transcript	ENST00000310193.4	protein_coding	1/5			chr8	TogoVar
CYP7B1_chr8_64585851_64803737	64686228	TGGGGGGG others(43): Show TGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT G	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0111 a0001c0001t0002g0111	1	248	0.0040	-50	c.123 others(69): Show c.123-61739_123-61690delCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCCGACCCCCCC	CYP7B1	ENSG00000172817.4	transcript	ENST00000310193.4	protein_coding	1/5			chr8	TogoVar
CYTH1_chr17_78669048_78787273	78760382	TATACACA others(43): Show TATACACACACATACATATATATATGTGTATATATATATATATACACATA C	T T	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA19054.hp2 NA18939.hp1 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0026 a0001c0001t0005g0034 a0001c0001t0001g0026 a0001c0001t0005g0034	2	359	0.0056	-50	c.22+ others(67): Show c.22+21770_22+21819delGTATGTGTATATATATATATATACACAT ATATATATGTATGTGTGTGTAT	CYTH1	ENSG00000108669.18	transcript	ENST00000446868.8	protein_coding	1/13			chr17	TogoVar
D2HGDH_chr2_241729630_241773811	241765436	GTAGGAAG others(43): Show GTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGGGA T	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02809.hp2 HG01884.hp1 HG02809.hp2	a0002 a0005 a0002 a0005	a0002c0009 a0005c0018 a0002c0009 a0005c0018	a0002c0009t0008 a0005c0018t0008 a0002c0009t0008 a0005c0018t0008	a0002c0009t0008g0095 a0005c0018t0008g0325 a0002c0009t0008g0095 a0005c0018t0008g0325	2	410	0.0049	-50	c.130 others(69): Show c.1307-2255_1307-2206delCTTGGGGAGATGGGAGCCCCGGGCTG AGGGATTAGGAAGAGGGGGGAGAA	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
D2HGDH_chr2_241729630_241773811	241766033	GGAGTAGG others(43): Show GGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAG T	G G	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0043 a0003c0003t0043	a0003c0003t0043g0357 a0003c0003t0043g0357	1	410	0.0024	-50	c.130 others(69): Show c.1307-1627_1307-1578delTGAGTAGGAAGAGGGGGGAGAACTTG GGGAGATGGGAGCCCCGGGCTGAG	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
D2HGDH_chr2_241729630_241773811	241766855	CTTGGGGA others(43): Show CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA G	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0002 a0001c0029t0002	a0001c0029t0002g0156 a0001c0029t0002g0156	1	278	0.0036	-50	c.130 others(67): Show c.1307-855_1307-806delCTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAA	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9			chr2	TogoVar
DACH1_chr13_71432966_71872204	71553080	GATTAGAC others(43): Show GATTAGACATATATCCATATATGTATATTAGACATATATCCATATATGTA T	G G	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	96	0.0104	-50	c.157 others(69): Show c.1570+3894_1570+3943delATACATATATGGATATATGTCTAATA TACATATATGGATATATGTCTAAT	DACH1	ENSG00000276644.5	transcript	ENST00000613252.5	protein_coding	6/10			chr13	TogoVar
DACH1_chr13_71432966_71872204	71735419	TGGGATAT others(43): Show TGGGATATACACGTATACGGATATACGTGTATATGGGATATACACGTATA C	T T	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	99	0.0101	-50	c.849 others(69): Show c.849-53559_849-53510delGTATACGTGTATATCCCATATACACG TATATCCGTATACGTGTATATCCC	DACH1	ENSG00000276644.5	transcript	ENST00000613252.5	protein_coding	1/10			chr13	TogoVar
DACH1_chr13_71432966_71872204	71779158	CGTATATA others(43): Show CGTATATACGTATATATATACACATATATACGTATATACGTATATATGTG T	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01109.hp2 HG01433.hp2 others(24): Show HG00735.hp2 HG01109.hp2 HG01433.hp2 HG01496.hp2 HG02004.hp2 HG02055.hp2 HG02145.hp2 HG02630.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG02976.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp2 HG03239.hp1 HG03471.hp2 HG06807.hp1 HG06807.hp2 NA19030.hp1 NA19030.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0005 a0002c0002 others(3): Show a0001c0001 a0001c0005 a0002c0002 a0003c0003 a0004c0004 a0005c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 a0001c0005t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0003c0003t0002 a0003c0003t0003 a0003c0003t0005 a0004c0004t0001 a0005c0008t0002	a0001c0001t0001g0025 a0001c0001t0001g0034 a0001c0001t0001g0040 others(24): Show a0001c0001t0001g0025 a0001c0001t0001g0034 a0001c0001t0001g0040 a0001c0001t0001g0054 a0001c0001t0002g0015 a0001c0001t0002g0029 a0001c0001t0003g0010 a0001c0001t0003g0023 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0004g0038 a0001c0001t0005g0035 a0001c0001t0011g0033 a0001c0005t0002g0043 a0002c0002t0001g0061 a0002c0002t0001g0090 a0002c0002t0002g0064 a0002c0002t0002g0068 a0002c0002t0002g0085 a0002c0002t0003g0075 a0002c0002t0004g0065 a0002c0002t0004g0070 a0003c0003t0002g0007 a0003c0003t0003g0003 a0003c0003t0005g0004 a0004c0004t0001g0097 a0005c0008t0002g0098	27	100	0.2700	-50	c.848 others(69): Show c.848+86714_848+86763delACACATATATACGTATATACGTATAT ATGTGTATATATATACGTATATAC	DACH1	ENSG00000276644.5	transcript	ENST00000613252.5	protein_coding	1/10			chr13	TogoVar
DACH1_chr13_71432966_71872204	71812505	GCATCAAA others(43): Show GCATCAAAATGGCACCATCAGAAACACATCAAAATGGCACCATCAGAAAC A	G G	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01978.hp1 HG02055.hp1 others(16): Show HG01496.hp1 HG01978.hp1 HG02055.hp1 HG02109.hp2 HG02257.hp1 HG02258.hp1 HG02486.hp2 HG02572.hp2 HG02683.hp2 HG02735.hp2 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03209.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 NA18959.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0012 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0003c0003t0005 a0003c0003t0013 a0004c0004t0014	a0001c0001t0001g0011 a0001c0001t0001g0024 a0001c0001t0001g0028 others(16): Show a0001c0001t0001g0011 a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0036 a0001c0001t0001g0045 a0001c0001t0001g0052 a0001c0001t0002g0012 a0001c0001t0002g0039 a0001c0001t0002g0050 a0001c0001t0003g0019 a0001c0001t0007g0014 a0001c0001t0012g0021 a0002c0002t0001g0072 a0002c0002t0002g0071 a0002c0002t0004g0060 a0002c0002t0004g0074 a0003c0003t0005g0004 a0003c0003t0013g0006 a0004c0004t0014g0102	19	98	0.1939	-50	c.848 others(69): Show c.848+53367_848+53416delTGTTTCTGATGGTGCCATTTTGATGT GTTTCTGATGGTGCCATTTTGATG	DACH1	ENSG00000276644.5	transcript	ENST00000613252.5	protein_coding	1/10			chr13	TogoVar
DAPL1_chr2_158790317_158820990	158791941	TTCTCTCT others(43): Show TTCTCTCTTTCTTTCTTTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTCT C	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0075 a0002c0002t0001g0075	1	283	0.0035	-50	c.-34 others(61): Show c.-3431_-3382delTCTCTCTTTCTTTCTTTCTCTCTTTCTTTCTTTC TTTCTTTCTTTCTCTC	DAPL1	ENSG00000163331.12	transcript	ENST00000309950.8	protein_coding		3375		chr2	TogoVar
DBX1_chr11_20151155_20165475	20151958	TATTTATT others(43): Show TATTTATTTCTTATTCTTTAGCTTATACATGTAACTATTTCAGTCTTTTT G	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0006 a0001c0002t0001g0006	1	478	0.0021	-50	c.42 others(61): Show c.4206_*4255delCAAAAAGACTGAAATAGTTACATGTATAAGCTAA AGAATAAGAAATAAAT	DBX1	ENSG00000109851.7	transcript	ENST00000524983.3	protein_coding		4196		chr11	TogoVar
DCBLD2_chr3_98790941_98906695	98837899	CGGCTGGC others(43): Show CGGCTGGCCGGGTGGGGGTGCTGACCCCCCCATCTCCCTCCCGGATGGGG T	C C	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0041 a0001c0002t0017g0041	1	328	0.0030	-50	c.571 others(69): Show c.571+11512_571+11561delACCCCATCCGGGAGGGAGATGGGGGG GTCAGCACCCCCACCCGGCCAGCC	DCBLD2	ENSG00000057019.16	transcript	ENST00000326840.11	protein_coding	3/15			chr3	TogoVar
DCC_chr18_52335197_53540899	52642033	TATATATA others(43): Show TATATATATATATACTGTGGTGTGTGTGTGTATATATATATATATATACA C	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00642.hp2 HG00733.hp1 others(7): Show HG00280.hp1 HG00642.hp2 HG00733.hp1 HG01069.hp1 HG01433.hp1 HG01496.hp1 HG02280.hp2 HG02572.hp1 HG03471.hp1 HG03471.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0005 others(3): Show a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0010 a0002c0020	a0001c0002t0002 a0001c0002t0016 a0001c0003t0003 others(4): Show a0001c0002t0002 a0001c0002t0016 a0001c0003t0003 a0001c0005t0011 a0001c0007t0003 a0001c0010t0003 a0002c0020t0007	a0001c0002t0002g0005 a0001c0002t0016g0047 a0001c0003t0003g0041 others(7): Show a0001c0002t0002g0005 a0001c0002t0016g0047 a0001c0003t0003g0041 a0001c0005t0011g0032 a0001c0007t0003g0025 a0001c0007t0003g0026 a0001c0007t0003g0035 a0001c0007t0003g0099 a0001c0010t0003g0096 a0002c0020t0007g0113	10	114	0.0877	-50	c.92- others(69): Show c.92-110019_92-109970delTATATATATATACTGTGGTGTGTGTG TGTATATATATATATATATACACA	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	53047262	ATATATAT others(43): Show ATATATATATATATATATATATATATAATTTTATATATATATATATAATT T	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0012 a0002c0004t0003g0012	1	114	0.0088	-50	c.986 others(69): Show c.986-16030_986-15981delTATATATATATATAATTTTATATATA TATATATAATTTTATATATATATA	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	5/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	53047445	ATATATAT others(43): Show ATATATATATATATATATACCATTTTTGCTATTGAGGAATCTTTTTTTTA T	A A	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0026 a0001c0008t0026	a0001c0008t0026g0095 a0001c0008t0026g0095	1	114	0.0088	-50	c.986 others(69): Show c.986-15857_986-15808delTATATATATATATATACCATTTTTGC TATTGAGGAATCTTTTTTTTATTA	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	5/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCLK2_chr4_150073445_150262438	150250546	TTCCCAGA others(43): Show TTCCCAGAGCTGGAGTTGGCTGCAGCAGCTTTCGAATCAGACCTGCCAAG G	T T	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	114	0.0088	-50	c.207 others(67): Show c.2073+864_2073+913delCCCAGAGCTGGAGTTGGCTGCAGCAGCT TTCGAATCAGACCTGCCAAGGT	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
DCPS_chr11_126299060_126355005	126354731	CACCTTGC others(43): Show CACCTTGCACTTATTCACATCCTATCCTGCCTCGTTCTTGAATGGAGTCC A	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0004 a0001c0001t0005g0004	1	340	0.0029	-50	c.91 others(61): Show c.9119_*9168delACCTTGCACTTATTCACATCCTATCCTGCCTCGT TCTTGAATGGAGTCCA	DCPS	ENSG00000110063.10	transcript	ENST00000263579.5	protein_coding		4727		chr11	TogoVar
DDA1_chr19_17304563_17328298	17315302	GTGTATAT others(43): Show GTGTATATATATACACGCTATATATATACACACGTATATATATACACGCT A	G G	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0079 a0001c0001t0003g0079	1	386	0.0026	-50	c.137 others(65): Show c.137-630_137-581delGTATATATATACACGCTATATATATACACA CGTATATATATACACGCTAT	DDA1	ENSG00000130311.11	transcript	ENST00000359866.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
DDX1_chr2_15586868_15636101	15612110	CGGACGGG others(43): Show CGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCC T	C C	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0188 a0001c0004t0003g0188	1	394	0.0025	-50	c.957 others(67): Show c.957-1096_957-1047delGGGCGGGGGGCTGACCCCCCCCACCTCC CTCCTGGACGGGGCGGCTGGCC	DDX1	ENSG00000079785.16	transcript	ENST00000233084.8	protein_coding	13/25		INFO_REALIGN_3_PRIME	chr2	TogoVar

Search by Variant

Search

Search Results