Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
KIF1A_chr2_240708767_240825219	240780986	A A	AGCTCCAC others(31): Show AGCTCCACACACACACACAGCTCCACACACACACAGCTC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0168 a0001c0004t0004g0168	1	330	0.0030	38	c.882 others(55): Show c.882+1603_882+1604insGAGCTGTGTGTGTGTGGAGCTGTGTGTG TGTGTGGAGC	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	10/48			chr2	TogoVar
KIF1A_chr2_240708767_240825219	240781191	A A	ACACACAC others(31): Show ACACACACACACACACAGCTCCCCACACACACACAGCTC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02257.hp1 HG02486.hp2 others(11): Show HG01099.hp2 HG02257.hp1 HG02486.hp2 HG02630.hp1 HG02723.hp1 HG02809.hp1 HG02976.hp2 NA18960.hp2 NA18967.hp1 NA18980.hp1 NA18983.hp1 NA19030.hp1 NA19067.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0001c0018	a0001c0001t0002 a0001c0001t0014 a0001c0003t0002 others(4): Show a0001c0001t0002 a0001c0001t0014 a0001c0003t0002 a0001c0003t0003 a0001c0003t0030 a0001c0004t0025 a0001c0018t0002	a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0014g0122 others(11): Show a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0014g0122 a0001c0001t0014g0123 a0001c0001t0014g0124 a0001c0001t0014g0125 a0001c0003t0002g0217 a0001c0003t0002g0218 a0001c0003t0003g0112 a0001c0003t0003g0203 a0001c0003t0003g0204 a0001c0003t0030g0185 a0001c0004t0025g0148 a0001c0018t0002g0097	14	330	0.0424	38	c.882 others(55): Show c.882+1398_882+1399insGAGCTGTGTGTGTGTGGGGAGCTGTGTG TGTGTGTGTG	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	10/48			chr2	TogoVar
KIF1A_chr2_240708767_240825219	240781373	C C	CCACACAC others(31): Show CCACACACACAGCTCCACACACACACACACAGCTCCACA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0006 a0001c0001t0010g0006	1	330	0.0030	38	c.882 others(55): Show c.882+1216_882+1217insTGTGGAGCTGTGTGTGTGTGTGTGGAGC TGTGTGTGTG	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	10/48			chr2	TogoVar
KIF21A_chr12_39288228_39448120	39355707	T T	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG02129.hp2 HG01169.hp1 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0003 a0001c0001t0008	a0001c0001t0003g0125 a0001c0001t0008g0020 a0001c0001t0003g0125 a0001c0001t0008g0020	2	298	0.0067	38	c.146 others(57): Show c.1469+1124_1469+1125insTATATATATATATATATATATATATA TATATATATATA	KIF21A	ENSG00000139116.19	transcript	ENST00000361418.10	protein_coding	10/37			chr12	TogoVar
KIF24_chr9_34247380_34334268	34311698	G G	GTACATAT others(31): Show GTACATATATACGTATATATGTATATACACGTATATATA	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0023 a0002c0008t0023	a0002c0008t0023g0182 a0002c0008t0023g0182	1	390	0.0026	38	c.-25 others(53): Show c.-25-365_-25-328dupTATATATACGTGTATATACATATATACGTA TATATGTA	KIF24	ENSG00000186638.17	transcript	ENST00000402558.7	protein_coding	1/12			chr9	TogoVar
KIF25_chr6_167992671_168050091	168044205	A A	AGAGGGTG others(31): Show AGAGGGTGAGGGGTGCTAGTGACCGGCTGCTGACCCTCC	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0076 a0002c0002t0003g0076	1	375	0.0027	38	c.986 others(53): Show c.986-621_986-584dupGAGGGTGAGGGGTGCTAGTGACCGGCTGCT GACCCTCC	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF26A_chr14_104133587_104185894	104165459	G G	GTGTGTGT others(31): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTCTCTGTATGCA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02280.hp2 HG02723.hp1 others(1): Show HG00735.hp2 HG02280.hp2 HG02723.hp1 NA18906.hp2	a0001 a0008 a0001 a0008	a0001c0042 a0008c0016 a0008c0037 a0001c0042 a0008c0016 a0008c0037	a0001c0042t0001 a0008c0016t0009 a0008c0037t0009 a0001c0042t0001 a0008c0016t0009 a0008c0037t0009	a0001c0042t0001g0036 a0008c0016t0009g0254 a0008c0016t0009g0255 others(1): Show a0001c0042t0001g0036 a0008c0016t0009g0254 a0008c0016t0009g0255 a0008c0037t0009g0351	4	374	0.0107	38	c.924 others(55): Show c.924-1390_924-1389insTGTGTGTGTGTGTGTGTCTCTGTATGCA TGTGTGTGTG	KIF26A	ENSG00000066735.16	transcript	ENST00000423312.7	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr14	TogoVar
KIF26B_chr1_245149985_245714432	245184050	G G	GTTTTTTT others(31): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02559.hp2 HG00735.hp2 HG02559.hp2	a0003 a0017 a0003 a0017	a0003c0029 a0017c0039 a0003c0029 a0017c0039	a0003c0029t0015 a0017c0039t0042 a0003c0029t0015 a0017c0039t0042	a0003c0029t0015g0073 a0017c0039t0042g0146 a0003c0029t0015g0073 a0017c0039t0042g0146	2	160	0.0125	38	c.465 others(57): Show c.465+27386_465+27387insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KIF26B_chr1_245149985_245714432	245351453	C C	CGTGTTAA others(31): Show CGTGTTAAACATAGGGAAAACTCAGCTATGCCTTTTCAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02809.hp2 HG02970.hp2 others(3): Show HG02559.hp1 HG02809.hp2 HG02970.hp2 HG03195.hp2 HG03209.hp2 HG03486.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0004 a0001c0012 a0001c0013 others(2): Show a0001c0004 a0001c0012 a0001c0013 a0002c0008 a0007c0018	a0001c0004t0001 a0001c0012t0082 a0001c0013t0049 others(3): Show a0001c0004t0001 a0001c0012t0082 a0001c0013t0049 a0002c0008t0004 a0002c0008t0006 a0007c0018t0023	a0001c0004t0001g0093 a0001c0012t0082g0130 a0001c0013t0049g0153 others(3): Show a0001c0004t0001g0093 a0001c0012t0082g0130 a0001c0013t0049g0153 a0002c0008t0004g0105 a0002c0008t0006g0095 a0007c0018t0023g0157	6	160	0.0375	38	c.466 others(57): Show c.466-15379_466-15378insGTTAAACATAGGGAAAACTCAGCTAT GCCTTTTCATGT	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KIF26B_chr1_245149985_245714432	245640143	C C	CTCTCTCT others(31): Show CTCTCTCTCTCTCTCTCTCTCTCTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0140 a0002c0003t0004g0140	1	160	0.0063	38	c.209 others(57): Show c.2099-5977_2099-5976insCTCTCTCTCTCTCTCTCTCTCTATAT ATATATATATAT	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KIF26B_chr1_245149985_245714432	245640143	C C	CTCTCTCT others(31): Show CTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0142 a0002c0003t0004g0142	1	160	0.0063	38	c.209 others(57): Show c.2099-5977_2099-5976insCTCTCTCTCTCTCTCTCTCTCTCTAT ATATATATATAT	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KIF26B_chr1_245149985_245714432	245640143	C C	CTCTCTCT others(31): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0029 a0001c0002t0003g0029	1	160	0.0063	38	c.209 others(57): Show c.2099-5977_2099-5976insCTCTCTCTCTCTCTCTCTCTCTCTCT CTATATATATAT	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KIF26B_chr1_245149985_245714432	245662764	C C	CACACACA others(31): Show CACACACACACACCCAATATATATATAACCCAGTGATAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00408.hp2 others(41): Show HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01169.hp2 HG01192.hp1 HG01261.hp2 HG01346.hp1 HG01978.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp2 HG02698.hp1 HG02735.hp1 HG02735.hp2 HG03017.hp2 HG03704.hp2 HG03710.hp1 HG04115.hp1 HG04228.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18952.hp1 NA18999.hp2 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19011.hp2 NA19085.hp1 NA19085.hp2 NA20300.hp1	a0001 a0003 a0005 others(3): Show a0001 a0003 a0005 a0010 a0011 a0017	a0001c0001 a0001c0002 a0001c0010 others(15): Show a0001c0001 a0001c0002 a0001c0010 a0001c0022 a0001c0048 a0001c0054 a0003c0006 a0003c0025 a0003c0026 a0003c0027 a0003c0028 a0003c0030 a0003c0031 a0005c0017 a0005c0058 a0010c0021 a0011c0041 a0017c0039	a0001c0001t0002 a0001c0001t0036 a0001c0001t0041 others(29): Show a0001c0001t0002 a0001c0001t0036 a0001c0001t0041 a0001c0001t0064 a0001c0001t0071 a0001c0002t0003 a0001c0002t0005 a0001c0002t0019 a0001c0002t0053 a0001c0002t0059 a0001c0002t0075 a0001c0002t0081 a0001c0002t0085 a0001c0010t0062 a0001c0022t0055 a0001c0048t0017 a0001c0054t0014 a0003c0006t0002 a0003c0006t0021 a0003c0006t0068 a0003c0025t0056 a0003c0026t0003 a0003c0027t0033 a0003c0028t0003 a0003c0030t0074 a0003c0031t0076 a0005c0017t0002 a0005c0017t0009 a0005c0058t0079 a0010c0021t0017 a0011c0041t0018 a0017c0039t0042	a0001c0001t0002g0016 a0001c0001t0002g0046 a0001c0001t0002g0049 others(41): Show a0001c0001t0002g0016 a0001c0001t0002g0046 a0001c0001t0002g0049 a0001c0001t0002g0062 a0001c0001t0036g0138 a0001c0001t0041g0022 a0001c0001t0064g0042 a0001c0001t0071g0047 a0001c0002t0003g0012 a0001c0002t0003g0014 a0001c0002t0003g0015 a0001c0002t0003g0027 a0001c0002t0003g0029 a0001c0002t0003g0032 a0001c0002t0003g0064 a0001c0002t0005g0040 a0001c0002t0005g0132 a0001c0002t0019g0061 a0001c0002t0019g0144 a0001c0002t0053g0121 a0001c0002t0059g0158 a0001c0002t0075g0083 a0001c0002t0081g0059 a0001c0002t0085g0001 a0001c0010t0062g0038 a0001c0022t0055g0137 a0001c0048t0017g0114 a0001c0054t0014g0071 a0003c0006t0002g0041 a0003c0006t0021g0025 a0003c0006t0021g0066 a0003c0006t0068g0007 a0003c0025t0056g0057 a0003c0026t0003g0058 a0003c0027t0033g0122 a0003c0028t0003g0011 a0003c0030t0074g0021 a0003c0031t0076g0030 a0005c0017t0002g0045 a0005c0017t0009g0143 a0005c0058t0079g0043 a0010c0021t0017g0113 a0011c0041t0018g0150 a0017c0039t0042g0146	44	160	0.2750	38	c.225 others(59): Show c.2258+16495_2258+16496insCCCAATATATATATAACCCAGTGA TATACACACACACA	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KIF2C_chr1_44734837_44772767	44738070	C C	CCCCTCCT others(31): Show CCCCTCCTCCCCCCTCCCCCCCTCCCCCTCCCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	374	0.0027	38	c.-18 others(49): Show c.-1863_-1862insCCCTCCTCCCCCCTCCCCCCCTCCCCCTCCCCCT CTCT	KIF2C	ENSG00000142945.13	transcript	ENST00000372224.9	protein_coding		1766		chr1	TogoVar
KIF5B_chr10_32004015_32061425	32006436	C C	CAAAAAAA others(31): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19012.hp1 NA19054.hp2 NA19012.hp1 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0211 a0001c0001t0001g0195 a0001c0001t0001g0211	2	364	0.0055	38	c.51 others(49): Show c.5100_*5101insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	KIF5B	ENSG00000170759.11	transcript	ENST00000302418.5	protein_coding		2578		chr10	TogoVar
KIF6_chr6_39324990_39730408	39346132	C C	CCTCTCTC others(31): Show CCTCTCTCTCTCCCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG04115.hp1 HG03130.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0164 a0001c0001t0001g0154 a0001c0001t0001g0164	2	174	0.0115	38	c.223 others(55): Show c.2231+343_2232-343insAGAGAGAGAGAGAGAGAGAGAGAGAGGG AGAGAGAGAG	KIF6	ENSG00000164627.18	transcript	ENST00000287152.12	protein_coding	20/22			chr6	TogoVar
KIF6_chr6_39324990_39730408	39346132	C C	CCTCTCTC others(31): Show CCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0011 a0002c0002t0001g0011	1	174	0.0058	38	c.223 others(55): Show c.2231+343_2232-343insAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAG	KIF6	ENSG00000164627.18	transcript	ENST00000287152.12	protein_coding	20/22			chr6	TogoVar
KIFAP3_chr1_169916329_170079695	169973105	G G	GTATATAT others(31): Show GTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0297 a0001c0001t0001g0297	1	372	0.0027	38	c.189 others(55): Show c.1898-508_1898-507insTATATATATATATATATATATATATATA TATATATATA	KIFAP3	ENSG00000075945.13	transcript	ENST00000361580.7	protein_coding	16/19			chr1	TogoVar
KIFAP3_chr1_169916329_170079695	169973105	G G	GTGTATAT others(31): Show GTGTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01943.hp2 HG01981.hp2 others(8): Show HG01123.hp2 HG01943.hp2 HG01981.hp2 HG02015.hp2 HG02683.hp2 NA18747.hp1 NA18953.hp2 NA18995.hp2 NA19002.hp1 NA19011.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0017 a0001c0001t0001g0024 a0001c0001t0001g0038 others(8): Show a0001c0001t0001g0017 a0001c0001t0001g0024 a0001c0001t0001g0038 a0001c0001t0001g0046 a0001c0001t0001g0051 a0001c0001t0001g0063 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0002g0077 a0001c0001t0002g0096 a0001c0001t0002g0114	11	372	0.0296	38	c.189 others(55): Show c.1898-508_1898-507insTATATATATATATATATATATATATATA TATATATACA	KIFAP3	ENSG00000075945.13	transcript	ENST00000361580.7	protein_coding	16/19			chr1	TogoVar
KIFAP3_chr1_169916329_170079695	169973122	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG03669.hp1 NA19043.hp2 others(1): Show HG02698.hp1 HG03669.hp1 NA19043.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0226 others(1): Show a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0226 a0001c0001t0001g0228	4	372	0.0108	38	c.189 others(55): Show c.1898-525_1898-524insTTATATATATATATATATATATATATAT ATATATATAT	KIFAP3	ENSG00000075945.13	transcript	ENST00000361580.7	protein_coding	16/19			chr1	TogoVar
KIR3DL1_chr19_54811468_54835778	54833906	A A	AGCCTGGA others(31): Show AGCCTGGAGTGGAGATATGGCCCTGGAGTGGAGATATGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0003 a0003c0003t0003g0003	1	395	0.0025	38	c.36 others(49): Show c.3631_*3632insGCCTGGAGTGGAGATATGGCCCTGGAGTGGAGAT ATGG	KIR3DL1	ENSG00000167633.18	transcript	ENST00000391728.8	protein_coding		3129		chr19	TogoVar
KIRREL3_chr11_126418358_127005770	126821351	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02886.hp1 HG01099.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0009 a0001c0003t0001 a0001c0001t0009 a0001c0003t0001	a0001c0001t0009g0025 a0001c0003t0001g0053 a0001c0001t0009g0025 a0001c0003t0001g0053	2	114	0.0175	38	c.55+ others(57): Show c.55+179103_55+179104insCATATATATATATATATATATATATA TATATATATATA	KIRREL3	ENSG00000149571.12	transcript	ENST00000525144.7	protein_coding	1/16			chr11	TogoVar
KIRREL3_chr11_126418358_127005770	126821351	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG02080.hp1 HG01928.hp1 HG02080.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0013 a0005c0008t0001 a0001c0001t0013 a0005c0008t0001	a0001c0001t0013g0066 a0005c0008t0001g0108 a0001c0001t0013g0066 a0005c0008t0001g0108	2	114	0.0175	38	c.55+ others(57): Show c.55+179103_55+179104insCACATATATATATATATATATATATA TATATATATATA	KIRREL3	ENSG00000149571.12	transcript	ENST00000525144.7	protein_coding	1/16			chr11	TogoVar
KISS1_chr1_204185341_204201491	204200299	G G	GTGTGTGT others(31): Show GTGTGTGTGTATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0061 a0001c0001t0006g0061	1	400	0.0025	38	c.-39 others(49): Show c.-3963_-3962insTATATATATATATATATATATATATATATACACA CACA	KISS1	ENSG00000170498.10	transcript	ENST00000367194.5	protein_coding		3809		chr1	TogoVar
KISS1_chr1_204185341_204201491	204200299	G G	GTGTGTGT others(31): Show GTGTGTGTGTGTATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG03471.hp1 HG02717.hp2 HG03471.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0030 a0002c0003t0007g0030	2	400	0.0050	38	c.-39 others(49): Show c.-3963_-3962insTATATATATATATATATATATATATATACACACA CACA	KISS1	ENSG00000170498.10	transcript	ENST00000367194.5	protein_coding		3809		chr1	TogoVar
KLF16_chr19_1847399_1868579	1856963	G G	GGGGGGGG others(31): Show GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0052 a0002c0003t0004g0052	1	398	0.0025	38	c.458 others(55): Show c.458-2204_458-2203insGCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCCCC	KLF16	ENSG00000129911.9	transcript	ENST00000250916.6	protein_coding	1/1			chr19	TogoVar
KLF7_chr2_207069137_207170948	207099551	G G	GATATATA others(31): Show GATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0172 a0001c0001t0048g0172	1	318	0.0031	38	c.734 others(57): Show c.734-10971_734-10970insATATATATATATATATATATATATAT ATATATATATAT	KLF7	ENSG00000118263.16	transcript	ENST00000309446.11	protein_coding	2/3			chr2	TogoVar
KLF9_chr9_70379604_70419657	70408984	C C	CTATATAT others(31): Show CTATATATATATATGTGTATATATATATACACATATATG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00621.hp1 HG03927.hp1 others(3): Show HG00408.hp1 HG00621.hp1 HG03927.hp1 NA18946.hp1 NA19065.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0026 a0001c0001t0001 a0001c0001t0011 a0001c0001t0026	a0001c0001t0001g0029 a0001c0001t0001g0123 a0001c0001t0001g0193 others(2): Show a0001c0001t0001g0029 a0001c0001t0001g0123 a0001c0001t0001g0193 a0001c0001t0011g0124 a0001c0001t0026g0052	6	400	0.0150	38	c.505 others(55): Show c.505+3837_505+3874dupCATATATGTGTATATATATATACACATA TATATATATA	KLF9	ENSG00000119138.5	transcript	ENST00000377126.4	protein_coding	1/1			chr9	TogoVar
KLHDC1_chr14_49688120_49758150	49754069	A A	AAAAAAAA others(31): Show AAAAAAAAAAAAAATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	208	0.0048	38	c.22 others(49): Show c.2297_*2298insAAAAAAAAAAAAATATATATATATATATATATAT ATAT	KLHDC1	ENSG00000197776.8	transcript	ENST00000359332.7	protein_coding		920		chr14	TogoVar
KLHDC1_chr14_49688120_49758150	49754069	A A	AAAAAAAA others(31): Show AAAAAAAAAAAATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	208	0.0048	38	c.22 others(49): Show c.2297_*2298insAAAAAAAAAAATATATATATATATATATATATAT ATAT	KLHDC1	ENSG00000197776.8	transcript	ENST00000359332.7	protein_coding		920		chr14	TogoVar
KLHDC1_chr14_49688120_49758150	49754069	A A	AAAAAAAA others(31): Show AAAAAAAAAATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01433.hp2 HG02004.hp1 others(1): Show HG01175.hp2 HG01433.hp2 HG02004.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0068 others(1): Show a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0068 a0001c0001t0001g0141	4	208	0.0192	38	c.22 others(49): Show c.2297_*2298insAAAAAAAAATATATATATATATATATATATATAT ATAT	KLHDC1	ENSG00000197776.8	transcript	ENST00000359332.7	protein_coding		920		chr14	TogoVar
KLHDC1_chr14_49688120_49758150	49754069	A A	AAAAAAAA others(31): Show AAAAAAAATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG01255.hp2 NA18985.hp1 HG01175.hp1 HG01255.hp2 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0140 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0140	3	208	0.0144	38	c.22 others(49): Show c.2297_*2298insAAAAAAATATATATATATATATATATATATATAT ATAT	KLHDC1	ENSG00000197776.8	transcript	ENST00000359332.7	protein_coding		920		chr14	TogoVar
KLHDC1_chr14_49688120_49758150	49754069	A A	AAAAAATA others(31): Show AAAAAATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	208	0.0048	38	c.22 others(49): Show c.2297_*2298insAAAAATATATATATATATATATATATATATATAT ATAT	KLHDC1	ENSG00000197776.8	transcript	ENST00000359332.7	protein_coding		920		chr14	TogoVar
KLHDC1_chr14_49688120_49758150	49756446	T T	TCGAACTC others(31): Show TCGAACTCCTGACCTCTTGATCTGCCCACCTCGGCCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0206 a0001c0002t0001g0206	1	208	0.0048	38	c.46 others(49): Show c.4674_*4675insCGAACTCCTGACCTCTTGATCTGCCCACCTCGGC CTCC	KLHDC1	ENSG00000197776.8	transcript	ENST00000359332.7	protein_coding		3297		chr14	TogoVar
KLHL15_chrX_23978720_24032186	24000527	T T	TTCTCACA others(31): Show TTCTCACATATTTCTAAAACTGAGGGCTTATATTTCTCA	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0084 a0001c0001t0015g0084	1	286	0.0035	38	c.705 others(55): Show c.705+5424_705+5461dupTGAGAAATATAAGCCCTCAGTTTTAGAA ATATGTGAGA	KLHL15	ENSG00000174010.10	transcript	ENST00000328046.8	protein_coding	3/3			chrX	TogoVar
KLHL1_chr13_69695597_70113452	69837655	T T	TACATATA others(31): Show TACATATATACATATATACATATATACACATATATACAC	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0045 a0001c0003t0001g0045	1	182	0.0055	38	c.141 others(57): Show c.1414+1320_1414+1321insGTGTATATATGTGTATATATGTATAT ATGTATATATGT	KLHL1	ENSG00000150361.12	transcript	ENST00000377844.9	protein_coding	6/10			chr13	TogoVar
KLHL1_chr13_69695597_70113452	70024620	T T	TTCTCTCT others(31): Show TTCTCTCTCTCTCTCTCTTTCTCTCTTTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 NA19056.hp1 HG01069.hp1 HG01071.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0011 a0001c0001t0005 a0001c0001t0011	a0001c0001t0005g0022 a0001c0001t0011g0133 a0001c0001t0011g0134 a0001c0001t0005g0022 a0001c0001t0011g0133 a0001c0001t0011g0134	3	182	0.0165	38	c.498 others(57): Show c.498-48819_498-48818insGAGAGAGAGAGAAAGAGAGAAAGAGA GAGAGAGAGAGA	KLHL1	ENSG00000150361.12	transcript	ENST00000377844.9	protein_coding	1/10			chr13	TogoVar
KLHL1_chr13_69695597_70113452	70094393	T T	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0141 a0001c0001t0007g0141	1	182	0.0055	38	c.497 others(57): Show c.497+12809_497+12810insTATATATATATATATATATATATATA TATATATATATA	KLHL1	ENSG00000150361.12	transcript	ENST00000377844.9	protein_coding	1/10			chr13	TogoVar
KLHL23_chr2_169728832_169756878	169734134	G G	GAGCGGGG others(31): Show GAGCGGGGCCGGGCGCGGGCAGCGGGGCCGGGCGCGGGC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00609.hp1 HG02080.hp2 others(4): Show HG00140.hp2 HG00609.hp1 HG02080.hp2 HG02135.hp2 NA18747.hp2 NA19007.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0019 a0001c0001t0023 others(1): Show a0001c0001t0006 a0001c0001t0019 a0001c0001t0023 a0001c0001t0114	a0001c0001t0006g0044 a0001c0001t0006g0045 a0001c0001t0006g0046 others(4): Show a0001c0001t0006g0044 a0001c0001t0006g0045 a0001c0001t0006g0046 a0001c0001t0006g0048 a0001c0001t0019g0047 a0001c0001t0023g0049 a0001c0001t0114g0050	7	400	0.0175	38	c.-3+ others(49): Show c.-3+65_-3+66insCAGCGGGGCCGGGCGCGGGCAGCGGGGCCGGGCG CGGG	KLHL23	ENSG00000213160.10	transcript	ENST00000392647.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
KLHL23_chr2_169728832_169756878	169738839	C C	CCCCCTCC others(31): Show CCCCCTCCCCCCTCCTCCCCCTCCCCCCTCCTCCCCCTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0061 a0001c0001t0024g0061	1	400	0.0025	38	c.121 others(57): Show c.1214-2537_1214-2536insCCTCCTCCCCCTCCCCCCTCCTCCCC CTTCCCCTCCCC	KLHL23	ENSG00000213160.10	transcript	ENST00000392647.7	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
KLHL23_chr2_169728832_169756878	169738860	C C	CCCCCCTC others(31): Show CCCCCCTCCTCCCCCTTCCCCTCCCCCTCCTCCCCCTCT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03486.hp2 HG02630.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0062 a0001c0001t0024g0063 a0001c0001t0024g0062 a0001c0001t0024g0063	2	400	0.0050	38	c.121 others(57): Show c.1214-2522_1214-2521insCCTCCTCCCCCTTCCCCTCCCCCTCC TCCCCCTCTCCC	KLHL23	ENSG00000213160.10	transcript	ENST00000392647.7	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
KLHL23_chr2_169728832_169756878	169740766	T T	TTTTATAT others(31): Show TTTTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0206 a0001c0002t0001g0206	1	400	0.0025	38	c.121 others(55): Show c.1214-618_1214-617insTTATATATATATATATATATATATATAT ATATATATAT	KLHL23	ENSG00000213160.10	transcript	ENST00000392647.7	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
KLHL28_chr14_44919324_44966947	44935890	G G	GTATATAT others(31): Show GTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01261.hp2 HG01891.hp2 others(6): Show HG01192.hp2 HG01261.hp2 HG01891.hp2 HG02155.hp2 HG02630.hp2 HG03041.hp2 HG03209.hp1 HG03225.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0012 a0001c0001t0027	a0001c0001t0001g0014 a0001c0001t0001g0060 a0001c0001t0001g0120 others(5): Show a0001c0001t0001g0014 a0001c0001t0001g0060 a0001c0001t0001g0120 a0001c0001t0003g0123 a0001c0001t0006g0092 a0001c0001t0006g0093 a0001c0001t0012g0125 a0001c0001t0027g0053	9	224	0.0402	38	c.900 others(55): Show c.900-1333_900-1332insTATATATATATATATATATATATATATA TATATATATA	KLHL28	ENSG00000179454.14	transcript	ENST00000396128.9	protein_coding	2/4			chr14	TogoVar
KLHL29_chr2_23380179_23713606	23670917	G G	GCGCGCGC others(31): Show GCGCGCGCACTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp2 NA18954.hp1 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0089 a0001c0001t0001g0014 a0001c0001t0001g0089	2	160	0.0125	38	c.941 others(57): Show c.941-13481_941-13480insGCGCGCACTCTCTCTCTCTCTCTCTC TCTCTCTCTCTC	KLHL29	ENSG00000119771.15	transcript	ENST00000486442.6	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
KLHL2_chr4_165202561_165328147	165264704	G G	GTGTGTAT others(31): Show GTGTGTATATATATATATATACATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	254	0.0039	38	c.544 others(55): Show c.544+1346_544+1347insGTGTATATATATATATATACATATATAT ATATATATAT	KLHL2	ENSG00000109466.14	transcript	ENST00000226725.11	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr4	TogoVar
KLHL31_chr6_53642916_53670756	53666063	G G	GGAAGGAA others(31): Show GGAAGGAAGGAAAGAAAGAGAAAGAAAGAAAGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG02602.hp2 NA19003.hp1 HG00423.hp1 HG02602.hp2 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0012 a0001c0001t0003 a0001c0001t0012	a0001c0001t0003g0029 a0001c0001t0012g0008 a0001c0001t0012g0090 a0001c0001t0003g0029 a0001c0001t0012g0008 a0001c0001t0012g0090	3	420	0.0071	38	c.-49 others(47): Show c.-497_-496insTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCCTTCCT TC	KLHL31	ENSG00000124743.6	transcript	ENST00000370905.4	protein_coding		308		chr6	TogoVar
KLHL3_chr5_137612500_137741089	137682403	T T	TAGAGAGA others(31): Show TAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0083 a0001c0001t0002g0083	1	252	0.0040	38	c.527 others(55): Show c.527-4750_527-4749insCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCT	KLHL3	ENSG00000146021.15	transcript	ENST00000309755.9	protein_coding	5/14			chr5	TogoVar
KLHL6_chr3_183482551_183560706	183534114	T T	TTACTTTT others(31): Show TTACTTTTAAAGTACTTTAAAAGTACTTTACTTTTAAAG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0025 a0001c0017t0025	a0001c0017t0025g0064 a0001c0017t0025g0064	1	298	0.0034	38	c.294 others(55): Show c.294-6105_294-6104insCTTTAAAAGTAAAGTACTTTTAAAGTAC TTTAAAAGTA	KLHL6	ENSG00000172578.12	transcript	ENST00000341319.8	protein_coding	1/6			chr3	TogoVar
KLK11_chr19_51017236_51031616	51031595	C C	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp1 HG02129.hp1 NA18969.hp1 others(1): Show HG02056.hp1 HG02129.hp1 NA18969.hp1 NA19075.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0002c0002t0001g0005 a0001c0001t0001g0001 a0001c0001t0001g0008 a0002c0002t0001g0005	4	456	0.0088	38	c.-50 others(49): Show c.-5094_-5093insATATATATATATATATATATATATATATATATAT ATAT	KLK11	ENSG00000167757.14	transcript	ENST00000453757.8	protein_coding		4980		chr19	TogoVar
KLK12_chr19_51024094_51040002	51031595	C C	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02129.hp1 NA18969.hp1 others(2): Show HG02056.hp1 HG02129.hp1 NA18969.hp1 NA19075.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0116 a0001c0001t0002g0117 others(1): Show a0001c0001t0002g0052 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0129	5	448	0.0112	38	c.457 others(53): Show c.457+280_457+281insATATATATATATATATATATATATATATAT ATATATAT	KLK12	ENSG00000186474.16	transcript	ENST00000684732.1	protein_coding	4/5			chr19	TogoVar

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Search Results (Total: 5880 hits)