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
GP6_chr19_55008705_55043264	55033198	C C	CTTCGTGT others(181): Show CTTCGTGTTGTGTTAGACACGGTGGACTCGTTCGTGTTGTGTTAGACACG GTGGACTCGTTCGTGTTGTGTTAGACACGGTGGACTCGTTTGTGTTGTGT TAGACACGGTGGGCTCGTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTA GACGCGGTGGGCTCGTTCGTGTTAGACGCGGTGGACTCG	intron_variant intron_variant	MODIFIER	HG02970.hp2 NA19240.hp1 HG02970.hp2 NA19240.hp1	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0002 a0010c0012t0002	a0010c0012t0002g0086 a0010c0012t0002g0087 a0010c0012t0002g0086 a0010c0012t0002g0087	2	256	0.0078	188	c.35- others(201): Show c.35-661_35-660insCGAGTCCACCGCGTCTAACACGAACGAGCCCA CCGCGTCTAACACGAACGAGCCCACCGCGTCTAACACGAACGAGCCCACC GTGTCTAACACAACACAAACGAGTCCACCGTGTCTAACACAACACGAACG AGTCCACCGTGTCTAACACAACACGAACGAGTCCACCGTGTCTAACACAA CACGAA	GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	1/7			chr19	TogoVar
GPC5_chr13_91393621_92872237	91571886	C C	CGTGTGTG others(181): Show CGTGTGTGTGTGTATACACACATATACGTGTGTGTGTGTATACACACATA TACGTGTGTGTGTGTATACACACATATACGTGTGTGTGTGTATACACACA TATACGTGTGTGTGTGTATACACACATATACGTGTGTGTGTGTATACACA CATATACGTGTGTGTGTGTATACACACATATACGTGTGT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0024 a0001c0004t0001g0024	1	18	0.0556	188	c.326 others(209): Show c.326-121295_326-121294insGTGTGTATACACACATATACGTGT GTGTGTGTATACACACATATACGTGTGTGTGTGTATACACACATATACGT GTGTGTGTGTATACACACATATACGTGTGTGTGTGTATACACACATATAC GTGTGTGTGTGTATACACACATATACGTGTGTGTGTGTATACACACATAT ACGTGTGTGTGTGT	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GRK5_chr10_119202571_119464745	119394644	T T	TGTGTATC others(181): Show TGTGTATCTGTGTCTGTGGGCACGTGTGTGTGGGTGTGAGTATCCGTGTG TCTGTGTGTGGGTGTGTTTGTGAGTATCCGTGTGTGTGTGGCTATGTGGA TGTGTGGATGTGTGGGTGTCTGTGTGTGGATGTATCTGTGTGTGTGTGGG CGTCTGTGTGTGGGCATGTGTGTGGGGGTGTGTGGGTAC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02818.hp2 HG03540.hp1 HG02559.hp1 HG02818.hp2 HG03540.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0014 a0004c0006t0067 a0004c0006t0014 a0004c0006t0067	a0004c0006t0014g0081 a0004c0006t0014g0089 a0004c0006t0067g0145 a0004c0006t0014g0081 a0004c0006t0014g0089 a0004c0006t0067g0145	3	199	0.0151	188	c.262 others(205): Show c.262-2047_262-2046insATCTGTGTCTGTGGGCACGTGTGTGTGG GTGTGAGTATCCGTGTGTCTGTGTGTGGGTGTGTTTGTGAGTATCCGTGT GTGTGTGGCTATGTGGATGTGTGGATGTGTGGGTGTCTGTGTGTGGATGT ATCTGTGTGTGTGTGGGCGTCTGTGTGTGGGCATGTGTGTGGGGGTGTGT GGGTACGTGT	GRK5	ENSG00000198873.12	transcript	ENST00000392870.3	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
GRM5_chr11_88499642_89070982	88687573	A A	ATTATATA others(181): Show ATTATATATATATTATATATATATTATATATATTATATATATATTATATA TATATTATATATATATTATATATATATTATATATATATTATATATATATT ATATATATATTATATATATATATTATATATATAATATATATAATATATAT ATTATATATATATATATTATATATATATAATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0125 a0001c0001t0006g0125	1	174	0.0057	188	c.912 others(207): Show c.912-34171_912-34170insATATATATATTATATATATATAATAT ATATATATATAATATATATATTATATATATTATATATATAATATATATAT ATAATATATATATAATATATATATAATATATATATAATATATATATAATA TATATATAATATATATATAATATATATATAATATATATAATATATATATA ATATATATATAA	GRM5	ENSG00000168959.15	transcript	ENST00000305447.5	protein_coding	3/9			chr11	TogoVar
GSE1_chr16_85608322_85681200	85653214	T T	TCCTCCCC others(181): Show TCCTCCCCCCTCCTCCTCCCCCCTCCCCCCCCTCCTCCCCCCCCCTCCTC CCCCCTCCTCCTCCTCCTCCTCCCCCCCTCCTCCTCCTCCCCCCTCCTCC TCCTCCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCTCCTCCTC CTCCCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0019 a0009c0013t0019	a0009c0013t0019g0284 a0009c0013t0019g0284	1	175	0.0057	188	c.427 others(205): Show c.427-1062_427-1061insTCCCCCCTCCTCCTCCCCCCTCCCCCCC CTCCTCCCCCCCCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCCTCC TCCTCCTCCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCTCCTC CTCCTCCCCCCTCCTCCTCCTCCCCCCCTCCTCCTCCTCCCCCCTCCTCC TCCTCCCCCC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
GSE1_chr16_85608322_85681200	85653270	T T	TCCCCCCC others(181): Show TCCCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCCCT CCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCC TCCTCCTCCCCCCCCCTCCTCCTCCCCCCCCCTCCTCCTCCTCCCCCCCT CCTCCTCCTCCCCCCTCCCCCCTCCTCCTCCTCCTCCCC	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0006 a0006	a0006c0041 a0006c0041	a0006c0041t0002 a0006c0041t0002	a0006c0041t0002g0084 a0006c0041t0002g0084	1	223	0.0045	188	c.427 others(205): Show c.427-1006_427-1005insCCCCCCTCCTCCTCCTCCTCCCCCCTCC TCCTCCTCCTCCCCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCC CCCTCCTCCTCCTCCCCCCTCCTCCTCCCCCCCCCTCCTCCTCCCCCCCC CTCCTCCTCCTCCCCCCCTCCTCCTCCTCCCCCCTCCCCCCTCCTCCTCC TCCTCCCCCC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
GYG1_chr3_148986540_149036775	149020096	T T	TTAAGCAC others(181): Show TTAAGCACCACCCATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0029 a0001c0006t0029	a0001c0006t0029g0044 a0001c0006t0029g0044	1	412	0.0024	188	c.609 others(205): Show c.609-3938_609-3937insTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATAAGCACCA CCCATTTCTT	GYG1	ENSG00000163754.18	transcript	ENST00000345003.9	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
GYG2_chrX_2823930_2887818	2845567	G G	GTATGTAT others(181): Show GTATGTATATTTATATACACGTGTGTATGTATATTTATATACACGTGTGT ATGTATATTTATATACACGTGTGTATGTATATTTATATACACGTGTGTAT GTATATTTATATACACGTGTGTATGTATATTTATATACACGTGTGTATGT ATATTTATATACACGTGTGTATGTATATATACACGTGTA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0124 a0002c0005t0002g0124	1	14	0.0714	188	c.149 others(205): Show c.149+2216_149+2217insGTATATTTATATACACGTGTGTATGTAT ATTTATATACACGTGTGTATGTATATTTATATACACGTGTGTATGTATAT TTATATACACGTGTGTATGTATATTTATATACACGTGTGTATGTATATTT ATATACACGTGTGTATGTATATTTATATACACGTGTGTATGTATATATAC ACGTGTATAT	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
GZMM_chr19_539053_554922	540326	G G	GGAGGCCG others(181): Show GGAGGCCGGGGTGGCCAGGTCCCCCAGGTTTAGAATCCAGAGGCCGGGAT GGCCAGGCCCCCCACGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCC CAGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCAGGTTTAGAATC CGGAGGCCGGGGTGGCCAGGCCCCCAGGTTTAGAATCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0067 a0001c0003t0002g0067	1	395	0.0025	188	c.-37 others(199): Show c.-3746_-3745insGAGGCCGGGGTGGCCAGGTCCCCCAGGTTTAGAA TCCAGAGGCCGGGATGGCCAGGCCCCCCACGTTTAGAATCCGGAGGCCGG GGTGGCCAGGCCCCCCAGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCC CCCAGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCAGGTTTAGAA TCCA	GZMM	ENSG00000197540.8	transcript	ENST00000264553.6	protein_coding		3726		chr19	TogoVar
GZMM_chr19_539053_554922	540804	C C	CACGTTTA others(181): Show CACGTTTAGAATCCGGAGGCTGGGATGGCCAGGCCCCTGGGTTTAGAATC CGGAGGCCGGGATGGCCAGGCCCCCCACGTTTAGAATCCGGAGGCCGGGG TGGCCAGGCCCCCGGGTTTAGAATCCAGAGGCTGGGATGGCCAGGCCCCC AGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	45	0.0222	188	c.-32 others(199): Show c.-3268_-3267insACGTTTAGAATCCGGAGGCTGGGATGGCCAGGCC CCTGGGTTTAGAATCCGGAGGCCGGGATGGCCAGGCCCCCCACGTTTAGA ATCCGGAGGCCGGGGTGGCCAGGCCCCCGGGTTTAGAATCCAGAGGCTGG GATGGCCAGGCCCCCAGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCC CCCA	GZMM	ENSG00000197540.8	transcript	ENST00000264553.6	protein_coding		3248		chr19	TogoVar
HAUS1_chr18_46099385_46133333	46112820	A A	ATATATAA others(181): Show ATATATAATATATATAATGTGTATATATATTCCATATTATATATAATATA TATAATGTGTATATATATTCCATATTATATATAATATATATAATGTGTAT ATATATTCCATATTATATATAATATATATAATGTGTATATATATTCCATA TTATATATAATATATATAATGTGTATATATATTCCATAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00597.hp2 HG01109.hp1 others(21): Show HG00423.hp2 HG00597.hp2 HG01109.hp1 HG01934.hp2 HG01952.hp1 HG02273.hp1 HG03195.hp2 HG03225.hp1 NA18612.hp2 NA18747.hp2 NA18952.hp1 NA18954.hp2 NA18962.hp2 NA18966.hp1 NA18969.hp1 NA18971.hp2 NA19004.hp2 NA19054.hp1 NA19056.hp1 NA19075.hp2 NA19084.hp1 NA19085.hp1 NA19088.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0012 others(16): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0067 a0001c0001t0001g0072 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0096 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0123	24	294	0.0816	188	c.206 others(205): Show c.206-5355_206-5354insATATATATAATGTGTATATATATTCCAT ATTATATATAATATATATAATGTGTATATATATTCCATATTATATATAAT ATATATAATGTGTATATATATTCCATATTATATATAATATATATAATGTG TATATATATTCCATATTATATATAATATATATAATGTGTATATATATTCC ATATTATATA	HAUS1	ENSG00000152240.13	transcript	ENST00000282058.11	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr18	TogoVar
HDAC9_chr7_18490749_19007416	18732915	G G	GTACACAC others(181): Show GTACACACACACGTGTATATGTGTGCGTATGTGTACACACACACGTGTAT ATGTGTGCGTATGTGTACACACACACGTGTATATGTGTGCGTATGTGTAC ACACACACGTGTATATGTGTGCGTATGTGTACACACACACGTGTATATGT GTGCGTATGTGTATACACACACGTGTATATGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0150 a0001c0002t0004g0150	1	126	0.0079	188	c.190 others(207): Show c.1909+5160_1909+5161insCACACACACGTGTATATGTGTGCGTA TGTGTACACACACACGTGTATATGTGTGCGTATGTGTACACACACACGTG TATATGTGTGCGTATGTGTACACACACACGTGTATATGTGTGCGTATGTG TACACACACACGTGTATATGTGTGCGTATGTGTATACACACACGTGTATA TGTGTGTGTATA	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	13/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HDAC9_chr7_18490749_19007416	18786615	T T	TTCCTTCC others(181): Show TTCCTTCCTTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCCT CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCC	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	96	0.0104	188	c.221 others(207): Show c.2215-6727_2215-6726insTTCCTTCCCTCCCTCCCTCCCTCCTT CCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCT CCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCCTCCCTCC	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	16/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HDAC9_chr7_18490749_19007416	18786615	T T	TTCCTTCC others(181): Show TTCCTTCCTTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCCT CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0087 a0001c0001t0048g0087	1	96	0.0104	188	c.221 others(207): Show c.2215-6727_2215-6726insTTCCTTCCCTCCCTCCCTCCTTCCTT CCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCT CCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCCTCC	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	16/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HDAC9_chr7_18490749_19007416	18786615	T T	TTCCTTCC others(181): Show TTCCTTCCTTCCTTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTT CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0127 a0001c0001t0009g0127	1	96	0.0104	188	c.221 others(207): Show c.2215-6727_2215-6726insTTCCTTCCTTCCCTCCCTCCCTCCTT CCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCT CCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCCTCCCTCC	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	16/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HEATR4_chr14_73473484_73563947	73546924	T T	TAAAAATA others(181): Show TAAAAATACAAAAATTTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGA GCCTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGC GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	315	0.0032	188	c.-15 others(209): Show c.-152+11826_-152+11827insTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCT CGGCTCACTGCAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAA ATTTTTGTATTTTT	HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding	1/17			chr14	TogoVar
IFNAR1_chr21_33319970_33364864	33322528	C C	CATATGAA others(181): Show CATATGAAGTATATATATGCCAATATACATAGAGTGGGAATATATATATG CAATAAACATATATGGTATACATTTTTGCAATATAAGATATGGAATTATA TATGGAATTTCATATATGGAATTTATATATTAATATATATATCGAAATAT ATATATGCAATATATATATATGAATTAATATATGAATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	97	0.0103	188	c.-25 others(199): Show c.-2528_-2527insATATGAAGTATATATATGCCAATATACATAGAGT GGGAATATATATATGCAATAAACATATATGGTATACATTTTTGCAATATA AGATATGGAATTATATATGGAATTTCATATATGGAATTTATATATTAATA TATATATCGAAATATATATATGCAATATATATATATGAATTAATATATGA ATAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2441		chr21	TogoVar
IQSEC3_chr12_61767_183455	103603	G G	GCTCAGGA others(181): Show GCTCAGGAGGGAGAGGTGGAGTTCGGGGGGAGGCAGGGCTGGGGGGAGGT GGGGCTCAGGAGGGGAGGCGGGGCTCAGGCAGGAGAGGTGGGACTCAGGT GGGGAGGCAGGACTCAGGAGGGAGAGGTGGAGTTCAGGAGGGGAGGCGGG GCTCGGGGGGTAGGTGGGGGCTCAGGAGGGGAGGTGGGA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01516.hp2 HG02572.hp1 HG01496.hp1 HG01516.hp2 HG02572.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0001 a0001c0004 a0002c0001	a0001c0004t0004 a0001c0004t0032 a0002c0001t0004 a0001c0004t0004 a0001c0004t0032 a0002c0001t0004	a0001c0004t0004g0031 a0001c0004t0032g0030 a0002c0001t0004g0038 a0001c0004t0004g0031 a0001c0004t0032g0030 a0002c0001t0004g0038	3	267	0.0112	188	c.623 others(205): Show c.623+4412_623+4413insGGGGGGAGGCAGGGCTGGGGGGAGGTGG GGCTCAGGAGGGGAGGCGGGGCTCAGGCAGGAGAGGTGGGACTCAGGTGG GGAGGCAGGACTCAGGAGGGAGAGGTGGAGTTCAGGAGGGGAGGCGGGGC TCGGGGGGTAGGTGGGGGCTCAGGAGGGGAGGTGGGACTCAGGAGGGAGA GGTGGAGTTC	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
IZUMO3_chr9_24537952_24550897	24546428	C C	CTCTCTCT others(181): Show CTCTCTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0021 a0001c0002t0002g0021	1	420	0.0024	188	c.-78 others(197): Show c.-780_-779insAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA AAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA AAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAGA GA	IZUMO3	ENSG00000205442.13	transcript	ENST00000543880.7	protein_coding		532		chr9	TogoVar
IZUMO3_chr9_24537952_24550897	24546444	C C	CTTTCTTT others(181): Show CTTTCTTTCTTTTTCTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0053 a0001c0001t0004g0053	1	407	0.0025	188	c.-79 others(197): Show c.-796_-795insAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAGAAAAAGAAAGA AA	IZUMO3	ENSG00000205442.13	transcript	ENST00000543880.7	protein_coding		548		chr9	TogoVar
JAK1_chr1_64828229_64971549	64913705	A A	AAGGAAGG others(181): Show AAGGAAGGAAGGAAAGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGA GAAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGG AAAGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGG	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0102 a0001c0002t0002g0102	1	128	0.0078	188	c.-77 others(207): Show c.-77-27365_-77-27364insCCCTTCTTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCT TCCTTCCTTCTTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTC TTTCCTTCCTTTCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCTT TCCTTCCTTCCT	JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding	1/24			chr1	TogoVar
KATNIP_chr16_27545144_27785344	27713641	T T	TTATGTGT others(181): Show TTATGTGTGTGTATATATATACACACACATATATATAATATGTGTGTGTA TATATATACACATACATATTATATATATGTGTGTGTATATATATACACAT ACATATATATATATATATGTATGTGTATATATATACACATACATATTATA TATATGTGTGTGTATATATATACACATACATATTATATA	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02572.hp1 HG01978.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0083 a0001c0001t0001g0022 a0001c0001t0001g0083	2	61	0.0328	188	c.160 others(207): Show c.1605+4745_1605+4746insCACATATATATAATATGTGTGTGTAT ATATATACACATACATATTATATATATGTGTGTGTATATATATACACATA CATATATATATATATATGTATGTGTATATATATACACATACATATTATAT ATATGTGTGTGTATATATATACACATACATATTATATATATGTGTGTGTA TATATATACACA	KATNIP	ENSG00000047578.14	transcript	ENST00000261588.10	protein_coding	13/27		INFO_REALIGN_3_PRIME	chr16	TogoVar
KCNMB2_chr3_178531436_178849429	178758232	A A	ATATATCC others(181): Show ATATATCCAAGAGGATATATATATATATATATATATCCAAGAGGATATAT ATATATATATATCCAAGAGGATATATATATATATATATCCAAGAGGATAT ATATATATATATATCCAAGAGGATATATATATATATATATCCAAGAGGAT ATATATATATATATATCCAAGAGGATATATATATATATC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0204 a0001c0001t0003g0204	1	174	0.0057	188	c.-67 others(207): Show c.-67-49110_-67-49109insATATCCAAGAGGATATATATATATAT ATATATATCCAAGAGGATATATATATATATATATCCAAGAGGATATATAT ATATATATATCCAAGAGGATATATATATATATATATCCAAGAGGATATAT ATATATATATATCCAAGAGGATATATATATATATATATCCAAGAGGATAT ATATATATATCT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNQ2_chr20_63395208_63477655	63443436	C C	CCACCACC others(181): Show CCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACC ACCATCACATCACCATCACCACCATCATCACCACCATCACCATCACCATC ATCACCACCACCATCACCATTATCACCACCACCACCATCACCATCACCAC CATCACCACCACCACCACCATCACCATCATCACCACCAT	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA20905.hp1 NA18612.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0006 a0001c0003 a0002c0006	a0001c0003t0012 a0002c0006t0016 a0001c0003t0012 a0002c0006t0016	a0001c0003t0012g0294 a0002c0006t0016g0295 a0001c0003t0012g0294 a0002c0006t0016g0295	2	262	0.0076	188	c.691 others(203): Show c.691-906_691-905insATGGTGGTGATGATGGTGATGGTGGTGGTG GTGGTGATGGTGGTGATGGTGATGGTGGTGGTGGTGATAATGGTGATGGT GGTGGTGATGATGGTGATGGTGATGGTGGTGATGATGGTGGTGATGGTGA TGTGATGGTGGTGATGGTGATGGTGGTGATCATGGTGGTGGTGGTGATGG TGGTGGTG	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16			chr20	TogoVar
KIAA0825_chr5_94145851_94623604	94608453	A A	ATGTGTGT others(181): Show ATGTGTGTGTGTGTGTGTGTGTGTGTATATATATATATATTATATATATA TATATTATATATATTATATATATATATTATATATATTATATATATATATT ATATATATATAATATATATATAATATATATTATATATATATATAATATAT ATATAATATATATATAATATATATATATTATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0009 a0001c0004t0009	a0001c0004t0009g0005 a0001c0004t0009g0005	1	53	0.0189	188	c.-15 others(209): Show c.-153+10046_-153+10047insATATATATATAATATATATATATT ATATATATATTATATATATATTATATATATATATAATATATATTATATAT ATATTATATATATATAATATATATATATAATATATATAATATATATATAT AATATATATAATATATATATATATAATATATATATATATACACACACACA CACACACACACACA	KIAA0825	ENSG00000185261.16	transcript	ENST00000682413.1	protein_coding	1/20			chr5	TogoVar
KIF1A_chr2_240708767_240825219	240780814	A A	ACACACAC others(181): Show ACACACACACACACACACAGCTCCACACACACACACACACACAGCTCCAC ACACACACACAGCTCCACACACACACAGCTACACACACACACACACAGCT CCACACACACACACACACACAGCTCCACACACACACACAGCTCCACACAC ACACACACACAGCTCCACACACACACACACACACAGCTC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0192 a0001c0005t0001g0192	1	322	0.0031	188	c.882 others(205): Show c.882+1775_882+1776insGAGCTGTGTGTGTGTGTGTGTGTGGAGC TGTGTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGGAGCTGTGTGTGTG TGTGTGTGTGGAGCTGTGTGTGTGTGTGTGTAGCTGTGTGTGTGTGGAGC TGTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGTGTGTGGAGCTGTGTGTG TGTGTGTGTG	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	10/48			chr2	TogoVar
KIF1A_chr2_240708767_240825219	240780814	A A	ACACACAC others(181): Show ACACACACACACACACACAGCTCCACACACACACACACACGCAGCTCCAC ACACACACACAGCTCCACACACACACAGCTACACACACACACACACAGCT CCACACACACACACACACACAGCTCCACACACACACACAGCTCCACACAC ACACACACACAGCTCCACACACACACACACACACAGCTC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0189 a0001c0005t0001g0189	1	322	0.0031	188	c.882 others(205): Show c.882+1775_882+1776insGAGCTGTGTGTGTGTGTGTGTGTGGAGC TGTGTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGGAGCTGTGTGTGTG TGTGTGTGTGGAGCTGTGTGTGTGTGTGTGTAGCTGTGTGTGTGTGGAGC TGTGTGTGTGTGTGGAGCTGCGTGTGTGTGTGTGTGTGGAGCTGTGTGTG TGTGTGTGTG	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	10/48			chr2	TogoVar
KIF25_chr6_167992671_168050091	168035444	A A	AGGCGGGA others(181): Show AGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGG GGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGC GGGAACGGCGCTGCGGGAGGGCGGGAACGGCGCTGCGGGGGGGCGGGAAC GGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	60	0.0167	188	c.317 others(205): Show c.317+1447_317+1448insCGCTGCGGGGCGGGGGGGCGGGAACGGC GCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGCTG CGGGAGGGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGGG GGGCGGGAACGGCGCTGCGGGGGGGGGGCGGGAACGGCGCTGCGGGGGGG GCGGGAACGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF25_chr6_167992671_168050091	168035444	A A	AGGCGGGA others(181): Show AGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGG GGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGC GGGAACGGCGCTGCGGGAGGGCGGGAACGGCGCTGCGGGGGGGCGGGAAC GGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGGGG	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0157 a0001c0001t0006g0157	1	60	0.0167	188	c.317 others(205): Show c.317+1447_317+1448insCGCTGCGGGGCGGGGGGGCGGGAACGGC GCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGCTG CGGGAGGGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGGG GGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGGGG GCGGGAACGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF25_chr6_167992671_168050091	168035444	A A	AGGCGGGA others(181): Show AGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGG GGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGC GGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGCGGGAAC GGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGGGGG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01258.hp1 HG01258.hp2 others(4): Show HG00642.hp2 HG01258.hp1 HG01258.hp2 HG02622.hp2 HG02630.hp1 HG03516.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0001c0001t0024	a0001c0001t0002g0289 a0001c0001t0002g0298 a0001c0001t0002g0316 others(4): Show a0001c0001t0002g0289 a0001c0001t0002g0298 a0001c0001t0002g0316 a0001c0001t0003g0089 a0001c0001t0012g0142 a0001c0001t0012g0159 a0001c0001t0024g0283	7	66	0.1061	188	c.317 others(205): Show c.317+1447_317+1448insCGCTGCGGGGCGGGGGGGCGGGAACGGC GCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGCTG CGGGGGGGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGGG GGGCGGGAACGGCGCTGCGGGGGGGGGGCGGGAACGGCGCTGCGGGGGGG GCGGGAACGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF25_chr6_167992671_168050091	168035444	A A	AGGCGGGA others(181): Show AGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGG GGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGC GGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGCGGGAAC GGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGGGG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0013 a0013	a0013c0020 a0013c0020	a0013c0020t0001 a0013c0020t0001	a0013c0020t0001g0241 a0013c0020t0001g0241	1	60	0.0167	188	c.317 others(205): Show c.317+1447_317+1448insCGCTGCGGGGCGGGGGGGCGGGAACGGC GCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGCTG CGGGGGGGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGGG GGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGGGG GCGGGAACGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF25_chr6_167992671_168050091	168035444	A A	AGGCGGGA others(181): Show AGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGG GGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGC GGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAA CGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGGGG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0266 a0001c0001t0002g0266	1	60	0.0167	188	c.317 others(205): Show c.317+1447_317+1448insCGCTGCGGGGCGGGGGGGCGGGAACGGC GCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGCTG CGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGG GGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGGGG GCGGGAACGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF25_chr6_167992671_168050091	168035444	A A	AGGCGGGA others(181): Show AGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGG GGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGC GGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGGGGCGGGAA CGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGGGG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	60	0.0167	188	c.317 others(205): Show c.317+1447_317+1448insCGCTGCGGGGCGGGGGGGCGGGAACGGC GCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGCTG CGGGGGGGGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGG GGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGGGG GCGGGAACGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF25_chr6_167992671_168050091	168035444	A A	AGGCGGGA others(181): Show AGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGG GGGCGGGAACGGCGCTGCGGGGGGGGCGGGGAACGGCGCTGCGGGGCGGG CGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGCGGGAA CGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGGGG	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0322 a0001c0001t0002g0322	1	60	0.0167	188	c.317 others(205): Show c.317+1447_317+1448insCGCTGCGGGGCGGGGGGGCGGGAACGGC GCTGCGGGGGGGGCGGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGCT GCGGGGGGGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGG GGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGGGG GCGGGAACGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF25_chr6_167992671_168050091	168035444	A A	AGGCGGGA others(181): Show AGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGG GGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGG CGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGCGGGAA CGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGGGG	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02004.hp1 NA18906.hp2 HG01943.hp1 HG02004.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0268 a0001c0001t0002g0296 a0001c0001t0002g0318 a0001c0001t0002g0268 a0001c0001t0002g0296 a0001c0001t0002g0318	3	62	0.0484	188	c.317 others(205): Show c.317+1447_317+1448insCGCTGCGGGGCGGGGGGGCGGGAACGGC GCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGCT GCGGGGGGGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGG GGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGGGG GCGGGAACGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF25_chr6_167992671_168050091	168035444	A A	AGGCGGGA others(181): Show AGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGG GGGCGGGAACGGCGGTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGC GGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGGGGCGGGAA CGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGGGG	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0299 a0001c0001t0002g0299	1	60	0.0167	188	c.317 others(205): Show c.317+1447_317+1448insCGCTGCGGGGCGGGGGGGCGGGAACGGC GGTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGCTG CGGGGGGGGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGG GGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGGGG GCGGGAACGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF25_chr6_167992671_168050091	168035444	A A	AGGCGGGA others(181): Show AGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGG GGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGG CGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGCGGGAA CGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGGGG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0313 a0001c0001t0002g0313	1	60	0.0167	188	c.317 others(205): Show c.317+1438_317+1439insGCGGGAACGGCGCTGCGGGGCGGGGGGG CGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGCGGG AACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGC GCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCT GCGGGGGGGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF25_chr6_167992671_168050091	168035461	C C	CGGGGGGG others(181): Show CGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTG CGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGCTGCGGG GGGGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGC GGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0281 a0001c0001t0008g0281	1	285	0.0035	188	c.317 others(205): Show c.317+1447_317+1448insCGCTGCGGGGCGGGGGGGCGGGAACGGC GCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGCTG CGGGGGGGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGGG GGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGGGGG GCGGGAACGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KLHL17_chr1_955584_970719	964630	G G	GGGCGGGT others(181): Show GGGCGGGTCCGCAGTGGGGATGTGCTGCCGGGAGGGGGGCGCGGGTCCGC AGTGGGGCTGTGGGAGGGGTCCGCGCGTCCGCAGTGGGGATGTGCTGCGG GGAGGGGGGGCGCGGGTCCGCAGTGGGGATGTGCTGCCGGGAGGGGGGCG CGGGTCCGCAGTGGGGCTGTGCTGCGGGAAGGGGGGGGC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0008 a0001c0009t0008	a0001c0009t0008g0016 a0001c0009t0008g0016	1	218	0.0046	188	c.170 others(205): Show c.1700+100_1700+101insGGCGGGTCCGCAGTGGGGATGTGCTGCC GGGAGGGGGGCGCGGGTCCGCAGTGGGGCTGTGGGAGGGGTCCGCGCGTC CGCAGTGGGGATGTGCTGCGGGGAGGGGGGGCGCGGGTCCGCAGTGGGGA TGTGCTGCCGGGAGGGGGGCGCGGGTCCGCAGTGGGGCTGTGCTGCGGGA AGGGGGGGGC	KLHL17	ENSG00000187961.15	transcript	ENST00000338591.8	protein_coding	11/11			chr1	TogoVar
KLHL18_chr3_47277944_47351816	47316503	A A	ATATGTGT others(181): Show ATATGTGTGTATATATACATATATACGTATATATGTATATGTGTGTGTAT ATATACATATATACGTATATATGTATATGTGTGTGTATATATACATATAT ACGTATATATGTATATGTGTGTGTATATATACATATATACGTATATATGT ATATGTGTGTGTATATATACATATATACGTATGTGTGTG	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0289 a0001c0001t0001g0289	1	310	0.0032	188	c.130 others(205): Show c.130-3147_130-3146insGTGTGTATATATACATATATACGTATAT ATGTATATGTGTGTGTATATATACATATATACGTATATATGTATATGTGT GTGTATATATACATATATACGTATATATGTATATGTGTGTGTATATATAC ATATATACGTATATATGTATATGTGTGTGTATATATACATATATACGTAT GTGTGTGTAT	KLHL18	ENSG00000114648.12	transcript	ENST00000232766.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
KLHL23_chr2_169728832_169756878	169750102	A A	ATATACGT others(181): Show ATATACGTATGTATGTATACATATATGTGTATATATACGTATGTATGTAT ACATATATGTGTATATATACGTATGTATGTATACATATATGTGTATATAT ACGTGTGTATGTATACATATATGTGTATATATACGTGTGTATGTATACAT ATATGTGTATATATACGTGTGTATGTATACATATATGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03098.hp2 HG03139.hp1 HG03491.hp1 others(1): Show HG03098.hp2 HG03139.hp1 HG03491.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0042 a0001c0001t0035 a0001c0001t0042	a0001c0001t0035g0141 a0001c0001t0035g0142 a0001c0001t0042g0299 others(1): Show a0001c0001t0035g0141 a0001c0001t0035g0142 a0001c0001t0042g0299 a0001c0001t0042g0302	4	169	0.0237	188	c.37 others(197): Show c.370_*371insTATACGTATGTATGTATACATATATGTGTATATATA CGTATGTATGTATACATATATGTGTATATATACGTATGTATGTATACATA TATGTGTATATATACGTGTGTATGTATACATATATGTGTATATATACGTG TGTATGTATACATATATGTGTATATATACGTGTGTATGTATACATATATG TG	KLHL23	ENSG00000213160.10	transcript	ENST00000392647.7	protein_coding	4/4	371		chr2	TogoVar
KLHL23_chr2_169728832_169756878	169750102	A A	ATATACGT others(181): Show ATATACGTATGTATGTATACATATATGTGTATATATACGTGTGTATGTAT ACATATATGTGTATATATACGTGTGTATGTATACATATATGTGTATATAT ACGTGTGTATGTATACATATATGTGTATATATACGTGTGTATGTATACAT ATATGTGTATATATACGTGTGTATGTATACATATATGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0096 a0001c0001t0096	a0001c0001t0096g0004 a0001c0001t0096g0004	1	166	0.0060	188	c.37 others(197): Show c.370_*371insTATACGTATGTATGTATACATATATGTGTATATATA CGTGTGTATGTATACATATATGTGTATATATACGTGTGTATGTATACATA TATGTGTATATATACGTGTGTATGTATACATATATGTGTATATATACGTG TGTATGTATACATATATGTGTATATATACGTGTGTATGTATACATATATG TG	KLHL23	ENSG00000213160.10	transcript	ENST00000392647.7	protein_coding	4/4	371		chr2	TogoVar
KLHL23_chr2_169728832_169756878	169750102	A A	ATATACGT others(181): Show ATATACGTGTGTATGTATACATATATGTGTATATATACGTGTGTATGTAT ACATATATGTGTATATATACGTGTGTATGTATACATATATGTGTATATAT ACGTGTGTATGTATACATATATGTGTATATATACGTGTGTATGTATACAT ATATGTGTATATATACGTGTGTATGTATACATATATGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0090 a0001c0001t0090	a0001c0001t0090g0280 a0001c0001t0090g0280	1	166	0.0060	188	c.37 others(197): Show c.370_*371insTATACGTGTGTATGTATACATATATGTGTATATATA CGTGTGTATGTATACATATATGTGTATATATACGTGTGTATGTATACATA TATGTGTATATATACGTGTGTATGTATACATATATGTGTATATATACGTG TGTATGTATACATATATGTGTATATATACGTGTGTATGTATACATATATG TG	KLHL23	ENSG00000213160.10	transcript	ENST00000392647.7	protein_coding	4/4	371		chr2	TogoVar
KPNA1_chr3_122416902_122519939	122442770	T T	TAAAAACT others(181): Show TAAAAACTAAGCCAGTTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0048 a0001c0001t0053g0048	1	398	0.0025	188	c.918 others(203): Show c.918-655_918-654insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGG GATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTG CCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTAACTGGCT TAGTTTTT	KPNA1	ENSG00000114030.13	transcript	ENST00000344337.11	protein_coding	9/13			chr3	TogoVar
LAMA5_chr20_62304065_62372312	62360513	G G	GGGTGGGT others(181): Show GGGTGGGTGGAGGGATAGATGGGTGGGTGGAGGGATAGATGGGTGGGTGG GTAGAAGGATAGGTAGGTGGGTGGGTGGGTGGATGGATAGGTGGATGGGT GGGTGGAGGAATAGATGGGTGGGTGGGTGGGTGGGTGGATGGATAGGTGG GTGGGTGGGTGGAGGAATAGATGGGTGGGTGGATGGATA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0123 a0002c0003t0001g0123	1	153	0.0065	188	c.450 others(205): Show c.450+1886_450+1887insTATCCATCCACCCACCCATCTATTCCTC CACCCACCCACCCACCTATCCATCCACCCACCCACCCACCCACCCATCTA TTCCTCCACCCACCCATCCACCTATCCATCCACCCACCCACCCACCTACC TATCCTTCTACCCACCCACCCATCTATCCCTCCACCCACCCATCTATCCC TCCACCCACC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	2/79			chr20	TogoVar
LAMA5_chr20_62304065_62372312	62360614	A A	ATGGATAG others(181): Show ATGGATAGGTGGATGGGTGGGTGGAGGAATAGATGGGTGGGTGGGTGGGT GGGTGGATGGATAGGTGGGTGGGTGGGTGGAGGAATAGATGGGTGGATGG GTGGGTGGGTGGAGGAATAGATGGGTGGGTGGGTGGGTGGGTGGAGGGAT AGATGGGTGGGTGGGTGGAGGAATAGATGGGTGGGTGGG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0018 a0018	a0018c0020 a0018c0020	a0018c0020t0001 a0018c0020t0001	a0018c0020t0001g0149 a0018c0020t0001g0149	1	120	0.0083	188	c.450 others(205): Show c.450+1785_450+1786insCCCACCCACCCATCTATTCCTCCACCCA CCCACCCATCTATCCCTCCACCCACCCACCCACCCACCCATCTATTCCTC CACCCACCCACCCATCCACCCATCTATTCCTCCACCCACCCACCCACCTA TCCATCCACCCACCCACCCACCCACCCATCTATTCCTCCACCCACCCATC CACCTATCCA	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	2/79			chr20	TogoVar
LMF1_chr16_848634_975984	858379	G G	GAGTGGTG others(181): Show GAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGT GGTGTCTCGGGATGGGTGTGCGTGGTGTCACGGGATGGGTGTGCAGTGGT GTCTCGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGT CTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGC	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA19009.hp1 NA18979.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0012t0018 a0001c0001t0001 a0001c0012t0018	a0001c0001t0001g0269 a0001c0012t0018g0035 a0001c0001t0001g0269 a0001c0012t0018g0035	2	200	0.0100	188	c.153 others(207): Show c.1530-3674_1530-3673insGCACACCCATCCCGAGACACCACTCA CACCCATCCCGAGACACCACTGCACACCCATCCCGAGACACCACTGCACA CCCATCCCGAGACACCACTGCACACCCATCCCGTGACACCACGCACACCC ATCCCGAGACACCACTCACACCCATCCCGAGACACCACTCACACCCATCC CGAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858379	G G	GAGTGGTG others(181): Show GAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGCGT GGTGTCTCGGGATGGGTGTGCGTGGTGTCACGGGATGGGTGTGCAGTGGT GTCTCGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGT CTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGC	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	199	0.0050	188	c.153 others(207): Show c.1530-3674_1530-3673insGCACACCCATCCCGAGACACCACTCA CACCCATCCCGAGACACCACTGCACACCCATCCCGAGACACCACTGCACA CCCATCCCGAGACACCACTGCACACCCATCCCGTGACACCACGCACACCC ATCCCGAGACACCACGCACACCCATCCCGAGACACCACTCACACCCATCC CGAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858845	G G	GCAGTGTT others(181): Show GCAGTGTTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAG TGGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGAGGGGTGTGCAGTG GTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGT CTCGGGACGGGTGTGAGTGGTGTCAGGGGACGGGTGTGC	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0141 a0002c0007t0001g0141	1	272	0.0037	188	c.153 others(207): Show c.1530-4140_1530-4139insGCACACCCGTCCCCTGACACCACTCA CACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACACCACTCACACC CGTCCCGAGACACCACTGCACACCCCTCCCGAGACACCACTGCACACCCG TCCCGTGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCC GTGACAACACTG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	960534	A A	ACACTGGA others(181): Show ACACTGGATCACGACCCAGACACAGACTCACGGTGACAACACTGGATCAC GACCCAGACACCATCTCATGGTGACAACACGGGATCACGACCCAGACACA GACTCACGGTGACAGCATGGGATCACGACCCAGACACAGACTCACGGTGA CAGCACGGGATCACGACCCAGACAGACTCACGGTGACAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0109 a0001c0005t0001g0109	1	133	0.0075	188	c.194 others(205): Show c.194-5869_194-5868insCTGTCACCGTGAGTCTGTCTGGGTCGTG ATCCCGTGCTGTCACCGTGAGTCTGTGTCTGGGTCGTGATCCCATGCTGT CACCGTGAGTCTGTGTCTGGGTCGTGATCCCGTGTTGTCACCATGAGATG GTGTCTGGGTCGTGATCCAGTGTTGTCACCGTGAGTCTGTGTCTGGGTCG TGATCCAGTG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	1/10			chr16	TogoVar

Search by Variant

Search

Search Results