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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
HSF1_chr8_144286604_144319720	144313660	G G	GCGCCTCC others(94): Show GCGCCTCCCCGCCTCCCCGCGCCTCCCCGCCTCCCCGCACCGCCTCCCCG CACCGCCTCCCCGCCTCCCCGCACCGCCTCCCCGCCTCCCCGCCCCGCCT CC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01081.hp2 others(7): Show HG01069.hp2 HG01071.hp2 HG01081.hp2 HG01192.hp1 HG01258.hp2 HG02818.hp2 HG03492.hp2 HG04184.hp2 NA18988.hp2 NA19007.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0008 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0008 a0002c0002t0001 a0003c0004t0001	a0001c0001t0001g0178 a0001c0001t0001g0186 a0001c0001t0001g0206 others(6): Show a0001c0001t0001g0178 a0001c0001t0001g0186 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0008g0268 a0002c0002t0001g0160 a0002c0002t0001g0246 a0002c0002t0001g0285 a0003c0004t0001g0023	10	330	0.0303	101	c.124 others(116): Show c.1248+45_1248+46insGCCTCCCCGCCTCCCCGCGCCTCCCCGCCT CCCCGCACCGCCTCCCCGCACCGCCTCCCCGCCTCCCCGCACCGCCTCCC CGCCTCCCCGCCCCGCCTCCC	HSF1	ENSG00000185122.11	transcript	ENST00000528838.6	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
IFNAR1_chr21_33319970_33364864	33322753	T T	TGGAATAT others(94): Show TGGAATATATACATATGGAATATATATATGGAATATATACATATGGAATA TATATATGGAATATATACGTATGGAATATATATATGGAATATATACGTAT GG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	323	0.0031	101	c.-23 others(112): Show c.-2303_-2302insGGAATATATACATATGGAATATATATATGGAATA TATACATATGGAATATATATATGGAATATATACGTATGGAATATATATAT GGAATATATACGTATGG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2216		chr21	TogoVar
IGF2R_chr6_159964082_160116504	159980227	G G	GAAGGAAA others(94): Show GAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGA AGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAAGAAGGAAA GA	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA20805.hp2 HG02922.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0030 a0001c0004t0002 a0001c0001t0030 a0001c0004t0002	a0001c0001t0030g0105 a0001c0004t0002g0129 a0001c0001t0030g0105 a0001c0004t0002g0129	2	310	0.0065	101	c.149 others(120): Show c.149+10834_149+10835insGGAAAGAAGGAAAGAAGGAAAGAAGG AAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAA AGAAGGAAAGAAAGAAGGAAAGAAA	IGF2R	ENSG00000197081.16	transcript	ENST00000356956.6	protein_coding	1/47		INFO_REALIGN_3_PRIME	chr6	TogoVar
INO80_chr15_40973880_41121280	41031612	A A	AGGAAGGG others(94): Show AGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG GGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGG AG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0260 a0001c0001t0003g0260	1	282	0.0036	101	c.290 others(120): Show c.2908-3877_2908-3876insCTCCCTCCCTTCCTCCCTTCCTCCCT TCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTCCCTTCCTCCCTTCC	INO80	ENSG00000128908.19	transcript	ENST00000648947.1	protein_coding	24/35			chr15	TogoVar
INPP5A_chr10_132532787_132788480	132775188	G G	GAGGGGCA others(94): Show GAGGGGCAGGGAGGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAGAG GGGCAGGGAGGACGGGCAGGGAGGAGAGAGGGGCAAGGAGGAGGGGCAGG GA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0018 a0001c0005t0018	a0001c0005t0018g0038 a0001c0005t0018g0038	1	204	0.0049	101	c.978 others(118): Show c.978-2483_978-2482insAGGGGCAGGGAGGAGGGGCAGGGAGGAG AAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGAGA GGGGCAAGGAGGAGGGGCAGGGA	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15			chr10	TogoVar
INPP5A_chr10_132532787_132788480	132775188	G G	GGGGCAGG others(94): Show GGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAG GGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGG GA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01167.hp2 HG01255.hp2 others(15): Show HG01071.hp1 HG01167.hp2 HG01255.hp2 HG02056.hp1 HG02083.hp2 HG02135.hp1 HG02523.hp1 HG02738.hp1 HG03579.hp2 HG03654.hp2 HG04184.hp2 NA18962.hp1 NA19011.hp2 NA19087.hp1 NA20129.hp2 NA20752.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0017 a0001c0003t0001 others(4): Show a0001c0001t0001 a0001c0001t0017 a0001c0003t0001 a0001c0003t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004	a0001c0001t0001g0115 a0001c0001t0001g0134 a0001c0001t0001g0152 others(15): Show a0001c0001t0001g0115 a0001c0001t0001g0134 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0175 a0001c0001t0001g0180 a0001c0001t0017g0182 a0001c0003t0001g0145 a0001c0003t0004g0199 a0001c0003t0004g0202 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0002g0132 a0002c0002t0002g0133 a0002c0002t0004g0203	18	204	0.0882	101	c.978 others(118): Show c.978-2481_978-2480insGCAGGGAGGAGAAACGGGCAGGGAGGAG AAACGGGCAGGGAGGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCA GGGAGGAGAGAGGGGCAGGGAGG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
INS_chr11_2154779_2166209	2161572	G G	GTCCCCAG others(94): Show GTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCA CACCCCCTGTCCCACACCCCTGTCCCCCACACCCCTGTCCCCCACACCCC TA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	376	0.0027	101	c.-42 others(110): Show c.-423_-422insTAGGGGTGTGGGGGACAGGGGTGTGGGGGACAGGGG TGTGGGACAGGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGG ACAGGGGTCTGGGGA	INS	ENSG00000254647.7	transcript	ENST00000381330.5	protein_coding		364		chr11	TogoVar
INS_chr11_2154779_2166209	2161607	C C	CACCCCTG others(94): Show CACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTG TCCCCACACCCCTGTCCCCGGGACCCCTGTCCCCAGGACCCCTGTCCCCA GG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	376	0.0027	101	c.-45 others(110): Show c.-458_-457insCCTGGGGACAGGGGTCCTGGGGACAGGGGTCCCGGG GACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGG TGTGGGGACAGGGGT	INS	ENSG00000254647.7	transcript	ENST00000381330.5	protein_coding		399		chr11	TogoVar
INS_chr11_2154779_2166209	2161677	A A	AGGACCCC others(94): Show AGGACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCC CTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCC AG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00735.hp1 HG00738.hp1 others(44): Show HG00323.hp1 HG00735.hp1 HG00738.hp1 HG01069.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01257.hp1 HG01258.hp2 HG01358.hp1 HG01361.hp2 HG01496.hp1 HG01516.hp1 HG01928.hp2 HG01943.hp1 HG01975.hp2 HG01978.hp2 HG02015.hp1 HG02055.hp2 HG02273.hp2 HG02486.hp1 HG02735.hp2 HG04204.hp1 NA18612.hp2 NA18940.hp1 NA18942.hp1 NA18945.hp2 NA18949.hp2 NA18963.hp1 NA18964.hp1 NA18967.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp2 NA18975.hp2 NA18983.hp2 NA18994.hp2 NA19000.hp2 NA19004.hp2 NA19057.hp1 NA19070.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0001 a0001c0001t0001g0014	47	376	0.1250	101	c.-52 others(110): Show c.-528_-527insCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGAC AGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTG TGGGGACAGGGGTCC	INS	ENSG00000254647.7	transcript	ENST00000381330.5	protein_coding		469		chr11	TogoVar
IQGAP2_chr5_76398285_76713132	76699719	T T	TTCTCTCT others(94): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCACTCTCGTGCT CTCTCTCTCTCCATATATAGTTCATTTGCTTCAGGCTTCTCTCTGTTCTC TC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0219 a0001c0002t0004g0219	1	222	0.0045	101	c.436 others(120): Show c.4368-1339_4368-1338insTCTCTCTCTCTCTCTCTCTCACTCTC GTGCTCTCTCTCTCTCCATATATAGTTCATTTGCTTCAGGCTTCTCTCTG TTCTCTCTCTCTCTCTCTCTCTCTC	IQGAP2	ENSG00000145703.17	transcript	ENST00000274364.11	protein_coding	33/35		INFO_REALIGN_3_PRIME	chr5	TogoVar
ITGA11_chr15_68291532_68437163	68400754	T T	TAATATTA others(94): Show TAATATTATATATTATATAATAAATATAATATTATATATTATATAATAAA TATAATATTATATATTATATAATAAATATAATATTATATATTATATAATA AA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0081 a0001c0081	a0001c0081t0012 a0001c0081t0012	a0001c0081t0012g0238 a0001c0081t0012g0238	1	242	0.0041	101	c.164 others(118): Show c.164+2163_164+2164insTTTATTATATAATATATAATATTATATT TATTATATAATATATAATATTATATTTATTATATAATATATAATATTATA TTTATTATATAATATATAATATT	ITGA11	ENSG00000137809.17	transcript	ENST00000315757.9	protein_coding	2/29			chr15	TogoVar
ITIH4_chr3_52807962_52835672	52832637	G G	GAGGGAGA others(94): Show GAGGGAGAGGGGTTTTGAGGTCCCTGGTGCAGGCAGGGAGAGGGGTTTTG AGGTCCCTAGTGCAGTGCAGGGAGAGGGGTTTTGAGGTCCCTAGTGCAGT CC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 NA18906.hp1 HG02970.hp2 NA18906.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0025 a0001c0004t0003g0025	2	390	0.0051	101	c.-19 others(112): Show c.-1996_-1995insGGACTGCACTAGGGACCTCAAAACCCCTCTCCCT GCACTGCACTAGGGACCTCAAAACCCCTCTCCCTGCCTGCACCAGGGACC TCAAAACCCCTCTCCCT	ITIH4	ENSG00000055955.17	transcript	ENST00000266041.9	protein_coding		1966		chr3	TogoVar
ITIH4_chr3_52807962_52835672	52832637	G G	GAGGGAGA others(94): Show GAGGGAGAGGGGTTTTGAGGTCCCTGGTGCAGGCAGGGAGAGGGGTTTTG AGGTCCCTAGTGCAGTGCAGGGAGAGGGGTTTTGAGGTCCCTAGTGCAGT GC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(180): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01928.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02155.hp2 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02523.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02886.hp2 HG02970.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp2 NA18939.hp1 NA18941.hp1 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18952.hp1 NA18955.hp1 NA18957.hp2 NA18960.hp2 NA18961.hp1 NA18966.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18972.hp2 NA18973.hp1 NA18974.hp1 NA18977.hp1 NA18979.hp2 NA18982.hp2 NA18984.hp1 NA18986.hp2 NA18987.hp1 NA18989.hp1 NA18991.hp1 NA18991.hp2 NA18997.hp1 NA18999.hp1 NA19002.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19043.hp2 NA19055.hp1 NA19056.hp2 NA19058.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19077.hp1 NA19079.hp2 NA19081.hp2 NA19085.hp2 NA19087.hp2 NA19089.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0005 a0006 others(6): Show a0001 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012	a0001c0001 a0001c0012 a0001c0016 others(10): Show a0001c0001 a0001c0012 a0001c0016 a0001c0018 a0001c0020 a0005c0007 a0006c0015 a0007c0011 a0008c0017 a0009c0008 a0010c0019 a0011c0009 a0012c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0012t0001 a0001c0016t0002 a0001c0018t0002 a0001c0020t0003 a0005c0007t0001 a0005c0007t0005 a0006c0015t0002 a0007c0011t0004 a0008c0017t0002 a0009c0008t0001 a0010c0019t0002 a0011c0009t0010 a0012c0014t0002	a0001c0001t0001g0012 a0001c0001t0001g0032 a0001c0001t0001g0033 others(73): Show a0001c0001t0001g0012 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0106 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0123 a0001c0001t0001g0129 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0143 a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0015 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0031 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0119 a0001c0001t0002g0121 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0133 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0141 a0001c0001t0002g0144 a0001c0001t0002g0146 a0001c0001t0003g0035 a0001c0001t0003g0096 a0001c0001t0003g0122 a0001c0001t0003g0147 a0001c0001t0004g0034 a0001c0001t0005g0118 a0001c0001t0005g0120 a0001c0001t0005g0124 a0001c0001t0005g0128 a0001c0001t0005g0136 a0001c0001t0005g0145 a0001c0001t0009g0135 a0001c0012t0001g0050 a0001c0016t0002g0105 a0001c0018t0002g0132 a0001c0020t0003g0142 a0005c0007t0001g0039 a0005c0007t0001g0040 a0005c0007t0005g0049 a0006c0015t0002g0102 a0007c0011t0004g0051 a0008c0017t0002g0125 a0009c0008t0001g0042 a0010c0019t0002g0140 a0011c0009t0010g0047 a0012c0014t0002g0101	183	390	0.4692	101	c.-19 others(112): Show c.-1996_-1995insGCACTGCACTAGGGACCTCAAAACCCCTCTCCCT GCACTGCACTAGGGACCTCAAAACCCCTCTCCCTGCCTGCACCAGGGACC TCAAAACCCCTCTCCCT	ITIH4	ENSG00000055955.17	transcript	ENST00000266041.9	protein_coding		1966		chr3	TogoVar
ITIH4_chr3_52807962_52835672	52832651	T T	TTGAGGTC others(94): Show TTGAGGTCCCTGGTGCAGGCAGGGAGAGGGGTTTTGAGGTCCCTAGTGCA GTGCAGGGAGAGGGGTTTTGAGGTCCCTAGTGCAGTGCAGGGAGAGGGGT TC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG00735.hp2 HG00738.hp1 others(24): Show HG00733.hp1 HG00735.hp2 HG00738.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01099.hp2 HG01168.hp2 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01361.hp2 HG01433.hp2 HG02015.hp1 HG02055.hp1 HG02145.hp1 HG02257.hp1 HG03831.hp1 NA18747.hp2 NA18962.hp2 NA18979.hp1 NA18985.hp1 NA18992.hp1 NA18995.hp2 NA19062.hp1 NA19089.hp2 NA20805.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0002 a0001c0004t0004 a0001c0004t0001 a0001c0004t0002 a0001c0004t0004	a0001c0004t0001g0024 a0001c0004t0002g0044 a0001c0004t0004g0003 others(6): Show a0001c0004t0001g0024 a0001c0004t0002g0044 a0001c0004t0004g0003 a0001c0004t0004g0013 a0001c0004t0004g0041 a0001c0004t0004g0043 a0001c0004t0004g0045 a0001c0004t0004g0046 a0001c0004t0004g0048	27	390	0.0692	101	c.-20 others(112): Show c.-2010_-2009insGAACCCCTCTCCCTGCACTGCACTAGGGACCTCA AAACCCCTCTCCCTGCACTGCACTAGGGACCTCAAAACCCCTCTCCCTGC CTGCACCAGGGACCTCA	ITIH4	ENSG00000055955.17	transcript	ENST00000266041.9	protein_coding		1980		chr3	TogoVar
ITIH5_chr10_7554270_7671966	7566772	A A	ACAGAGAG others(94): Show ACAGAGAGAAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGAAGGAGGAGGAGAAGGAGGAGGAGAAGGAGGAGGAGAAGGAGGA GG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0014 a0014	a0014c0064 a0014c0064	a0014c0064t0064 a0014c0064t0064	a0014c0064t0064g0054 a0014c0064t0064g0054	1	342	0.0029	101	c.215 others(118): Show c.2150-366_2150-365insCCTCCTCCTTCTCCTCCTCCTTCTCCTC CTCCTTCTCCTCCTCCTTCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTCCTTCTCTCTG	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	12/13			chr10	TogoVar
IZUMO3_chr9_24537952_24550897	24546511	T T	TCTTTTCT others(94): Show TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG02922.hp1 HG00735.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0022 a0001c0002t0002g0020 a0001c0001t0002g0022 a0001c0002t0002g0020	2	426	0.0047	101	c.-86 others(110): Show c.-863_-862insGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAG	IZUMO3	ENSG00000205442.13	transcript	ENST00000543880.7	protein_coding		615		chr9	TogoVar
JAKMIP1_chr4_6021199_6205549	6036930	C C	CGAGGCAG others(94): Show CGAGGCAGAGGCTAACCCGGTAGCCCTCCATCACTGAGGCAGAGGATAAC CCAGTAGCCCTCCATCACCGAGGCAGAGGCTAACCGGTAGCCCTCCATCA CT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	233	0.0043	101	c.217 others(118): Show c.2176-824_2176-823insAGTGATGGAGGGCTACCGGTTAGCCTCT GCCTCGGTGATGGAGGGCTACTGGGTTATCCTCTGCCTCAGTGATGGAGG GCTACCGGGTTAGCCTCTGCCTC	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	18/20			chr4	TogoVar
JAKMIP1_chr4_6021199_6205549	6036951	T T	TCCCTCCA others(94): Show TCCCTCCATCACTGAGTCAGAGGTTAACCCAGTAGCCCTCCAACACCGAG GCAGAGGCTAACCGGTATCCCTCCATCACCGAGGCAGAGGATAACCCAGT AG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	233	0.0043	101	c.217 others(118): Show c.2176-845_2176-844insCTACTGGGTTATCCTCTGCCTCGGTGAT GGAGGGATACCGGTTAGCCTCTGCCTCGGTGTTGGAGGGCTACTGGGTTA ACCTCTGACTCAGTGATGGAGGG	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	18/20			chr4	TogoVar
JAKMIP1_chr4_6021199_6205549	6067579	G G	GCACTCAA others(94): Show GCACTCAAGCTCTTCCGCACACACAGGTCACCCCCCTGAGCTCCAGGTTC ACTCAAGCTCTTCTGCACACACACACACAGGTCACCCCCTGAGCTCCAGG TT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG01106.hp1 others(11): Show HG00280.hp1 HG00323.hp1 HG01106.hp1 HG02056.hp1 HG02155.hp1 HG02165.hp1 HG02300.hp1 HG02300.hp2 HG02698.hp1 HG03491.hp1 HG03834.hp1 NA18941.hp2 NA18964.hp2 NA18969.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0010 a0001c0001 a0003c0010	a0001c0001t0001 a0003c0010t0001 a0001c0001t0001 a0003c0010t0001	a0001c0001t0001g0027 a0001c0001t0001g0042 a0001c0001t0001g0043 others(11): Show a0001c0001t0001g0027 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0086 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0109 a0001c0001t0001g0124 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0156 a0001c0001t0001g0161 a0003c0010t0001g0126	14	233	0.0601	101	c.130 others(120): Show c.1303-2572_1303-2571insAACCTGGAGCTCAGGGGGTGACCTGT GTGTGTGTGTGCAGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGGTGAC CTGTGTGTGCGGAAGAGCTTGAGTG	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	8/20			chr4	TogoVar
JAKMIP1_chr4_6021199_6205549	6067579	G G	GCACTCAA others(94): Show GCACTCAAGCTCTTCTGCACACACAGGTCACCCCCCTGAGCTCCAGGTTC ACTCAAGCTCTTCTGCACACACACACACAGGTCACCCCCTGAGCTCCAGG TT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03486.hp2 HG04199.hp1 HG03017.hp2 HG03486.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0022 a0001c0001t0001g0134 a0001c0002t0001g0165 a0001c0001t0001g0022 a0001c0001t0001g0134 a0001c0002t0001g0165	3	233	0.0129	101	c.130 others(120): Show c.1303-2672_1303-2572dupAACCTGGAGCTCAGGGGGTGACCTGT GTGTGTGTGTGCAGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGGTGAC CTGTGTGTGCAGAAGAGCTTGAGTG	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	8/20			chr4	TogoVar
JAKMIP1_chr4_6021199_6205549	6067579	G G	GCACTCAA others(94): Show GCACTCAAGCTCTTCTGCACACACAGGTCACCCCCCTGAGCTCCAGGTTC ACTCAAGCTCTTCTGCACACGCACACACAGGTCACCCCCTGAGCTCCAGG TT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0232 a0002c0004t0002g0232	1	233	0.0043	101	c.130 others(120): Show c.1303-2572_1303-2571insAACCTGGAGCTCAGGGGGTGACCTGT GTGTGCGTGTGCAGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGGTGAC CTGTGTGTGCAGAAGAGCTTGAGTG	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	8/20			chr4	TogoVar
JAKMIP1_chr4_6021199_6205549	6067624	G G	GGTTCACT others(94): Show GGTTCACTCAAGCTCTTCTGCACACACACACACAGGTCACCCCCTGAGCT CCAGGTTCACTCAAGCTCTTCTGCACACACAGGTCACCCCCCTGAGCTCC AC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02896.hp2 HG02897.hp2 others(1): Show HG02809.hp1 HG02896.hp2 HG02897.hp2 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0054 others(1): Show a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0054 a0001c0002t0001g0215	4	233	0.0172	101	c.130 others(120): Show c.1303-2717_1303-2617dupGTGGAGCTCAGGGGGGTGACCTGTGT GTGCAGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGTGACCTGTGTGTG TGTGTGCAGAAGAGCTTGAGTGAAC	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	8/20			chr4	TogoVar
JAKMIP3_chr10_132060946_132189858	132160271	C C	CTCCCTGT others(94): Show CTCCCTGTGTGATGCTGGGGGCGTGTCTTCCTGTGTGATGCTGGGGGGCC TCTCGCTGTGTGATGCTGGGGGCGTGTCTTCCTGTGTGACGCTGGGGGCG TG	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0001 a0004c0011t0001	a0004c0011t0001g0135 a0004c0011t0001g0135	1	158	0.0063	101	c.222 others(120): Show c.2221-2936_2221-2935insCCTGTGTGATGCTGGGGGCGTGTCTT CCTGTGTGATGCTGGGGGGCCTCTCGCTGTGTGATGCTGGGGGCGTGTCT TCCTGTGTGACGCTGGGGGCGTGTC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132160680	G G	GAGGGGGC others(94): Show GAGGGGGCCTCTCCCTGTGTGATGCTGGGGAGCCTCTTCCTGTGTGATGC TGGGGGGGTCTCTTCCTGTGTGATGCTGGGGGACCTCTCCCTGTGTGATG CT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01106.hp1 HG01884.hp1 others(19): Show HG00423.hp2 HG01106.hp1 HG01884.hp1 HG02015.hp1 HG02074.hp1 HG02129.hp2 HG02132.hp2 HG02155.hp2 HG02523.hp1 HG02895.hp2 HG02965.hp1 HG03225.hp2 HG03540.hp1 HG04184.hp1 NA18522.hp2 NA18944.hp2 NA18954.hp2 NA18971.hp1 NA18971.hp2 NA19043.hp2 NA19240.hp1 NA19240.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0001c0013 a0001c0015 others(9): Show a0001c0001 a0001c0013 a0001c0015 a0002c0016 a0003c0002 a0003c0003 a0003c0018 a0004c0007 a0004c0014 a0004c0024 a0004c0030 a0006c0044	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(15): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0021 a0001c0013t0024 a0001c0015t0002 a0002c0016t0006 a0003c0002t0020 a0003c0003t0002 a0003c0003t0005 a0003c0003t0012 a0003c0018t0002 a0004c0007t0002 a0004c0007t0012 a0004c0014t0031 a0004c0024t0002 a0004c0030t0030 a0006c0044t0002	a0001c0001t0002g0027 a0001c0001t0002g0146 a0001c0001t0002g0156 others(19): Show a0001c0001t0002g0027 a0001c0001t0002g0146 a0001c0001t0002g0156 a0001c0001t0003g0102 a0001c0001t0006g0006 a0001c0001t0021g0119 a0001c0013t0024g0078 a0001c0015t0002g0018 a0002c0016t0006g0052 a0002c0016t0006g0099 a0003c0002t0020g0093 a0003c0003t0002g0056 a0003c0003t0005g0072 a0003c0003t0012g0063 a0003c0018t0002g0028 a0003c0018t0002g0117 a0004c0007t0002g0026 a0004c0007t0012g0067 a0004c0014t0031g0150 a0004c0024t0002g0151 a0004c0030t0030g0084 a0006c0044t0002g0031	22	158	0.1392	101	c.222 others(120): Show c.2221-2529_2221-2528insAGGGGGCCTCTCCCTGTGTGATGCTG GGGAGCCTCTTCCTGTGTGATGCTGGGGGGGTCTCTTCCTGTGTGATGCT GGGGGACCTCTCCCTGTGTGATGCT	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23			chr10	TogoVar
KCNH1_chr1_210673314_211139148	210718378	G G	GCATATAT others(94): Show GCATATATTTAATGCATAAATATATGCATATATTTAATACATAAATATAT GCATATATTTATATATTAAAATATATACATATATTTATATATAAAATATA TA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02145.hp1 HG02280.hp2 others(3): Show HG01891.hp2 HG02145.hp1 HG02280.hp2 HG02717.hp1 HG03130.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 others(2): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0013 a0001c0001t0019	a0001c0001t0004g0139 a0001c0001t0005g0155 a0001c0001t0009g0063 others(3): Show a0001c0001t0004g0139 a0001c0001t0005g0155 a0001c0001t0009g0063 a0001c0001t0013g0004 a0001c0001t0013g0039 a0001c0001t0019g0109	6	164	0.0366	101	c.211 others(122): Show c.2113-34241_2113-34240insTATATATTTTATATATAAATATAT GTATATATTTTAATATATAAATATATGCATATATTTATGTATTAAATATA TGCATATATTTATGCATTAAATATATG	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	10/10			chr1	TogoVar
KCNIP4_chr4_20723606_21953772	21234276	T T	TATAACAT others(94): Show TATAACATATATTATATATAACATATATAACATATATATAACATATATTA TATATAACATATATAACATATATATCATATATTATATATAACATATATAA CA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0003 a0001c0001t0011g0003	1	80	0.0125	101	c.62- others(120): Show c.62-351568_62-351567insTGTTATATATGTTATATATAATATAT GATATATATGTTATATATGTTATATATAATATATGTTATATATATGTTAT ATATGTTATATATAATATATGTTAT	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KHSRP_chr19_6408102_6429811	6429030	T T	TATATATA others(94): Show TATATATATAATATATATATTATATATATGTTACATATATATAATATATA TATTATATATATGTTATATATATATATAATATATATATTATATATATGTT AC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0078 a0001c0001t0029g0078	1	386	0.0026	101	c.-43 others(112): Show c.-4330_-4329insGTAACATATATATAATATATATATTATATATATA TATAACATATATATAATATATATATTATATATATGTAACATATATATAAT ATATATATTATATATAT	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4220		chr19	TogoVar
KHSRP_chr19_6408102_6429811	6429132	A A	ACATATAT others(94): Show ACATATATATATAATATATATATTATATATATGTTACATATATATATAAT ATATATATTATATATATGTTACATATATATAATATATATATTATATATAT GT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG01175.hp1 HG00099.hp1 HG01175.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0013 a0001c0006t0029 a0001c0006t0013 a0001c0006t0029	a0001c0006t0013g0084 a0001c0006t0029g0086 a0001c0006t0013g0084 a0001c0006t0029g0086	2	386	0.0052	101	c.-44 others(112): Show c.-4432_-4431insACATATATATAATATATATATTATATATATGTAA CATATATATAATATATATATTATATATATATGTAACATATATATAATATA TATATTATATATATATG	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4322		chr19	TogoVar
KIAA1671_chr22_24947716_25202448	25071582	C C	CAAAGAAG others(94): Show CAAAGAAGAAAAGAAGTCTGCAATGAGCCGAGATCCCGCCACTGCACTCC AGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA AA	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA19240.hp2 HG03130.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0094 a0002c0111 a0001c0094 a0002c0111	a0001c0094t0005 a0002c0111t0005 a0001c0094t0005 a0002c0111t0005	a0001c0094t0005g0003 a0002c0111t0005g0017 a0001c0094t0005g0003 a0002c0111t0005g0017	2	254	0.0079	101	c.453 others(122): Show c.4530+22236_4530+22237insGCAATGAGCCGAGATCCCGCCACT GCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAA AAAAAAAAAAAAGAAGAAAAGAAGTCT	KIAA1671	ENSG00000197077.14	transcript	ENST00000358431.8	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
KIF17_chr1_20659014_20723007	20712616	A A	ATAGATAA others(94): Show ATAGATAATATTATCTATATTATATATAGATAATATTATCTATATTATAT ATATAGATAATATTATCTATATTATATATAGATAATATTATCTATATATA AT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01934.hp2 HG01975.hp1 others(1): Show HG01346.hp2 HG01934.hp2 HG01975.hp1 HG02004.hp1	a0003 a0004 a0003 a0004	a0003c0011 a0004c0006 a0003c0011 a0004c0006	a0003c0011t0001 a0004c0006t0001 a0003c0011t0001 a0004c0006t0001	a0003c0011t0001g0187 a0003c0011t0001g0226 a0004c0006t0001g0225 others(1): Show a0003c0011t0001g0187 a0003c0011t0001g0226 a0004c0006t0001g0225 a0004c0006t0001g0227	4	414	0.0097	101	c.480 others(116): Show c.480+837_480+838insATTATATATAGATAATATTATCTATATATA ATATAGATAATATTATCTATATATATAATATAGATAATATTATCTATATA TAATATAGATAATATTATCTA	KIF17	ENSG00000117245.13	transcript	ENST00000400463.8	protein_coding	3/14			chr1	TogoVar
KIF1A_chr2_240708767_240825219	240786702	G G	GCATCAGG others(94): Show GCATCAGGACCCCTGAGTAAAGGGGTGGGGGCTGCCTGCTGGGCCCCTGA GTGAGGGGTGGGGGCCGCCATCAGGACCCCTGAGTGAGAGGGTGGGGGCC AC	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0300 a0001c0003t0003g0300	1	330	0.0030	101	c.430 others(116): Show c.430-190_430-189insGTGGCCCCCACCCTCTCACTCAGGGGTCCT GATGGCGGCCCCCACCCCTCACTCAGGGGCCCAGCAGGCAGCCCCCACCC CTTTACTCAGGGGTCCTGATG	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	5/48			chr2	TogoVar
KIF1A_chr2_240708767_240825219	240786745	C C	CCCCTGAG others(94): Show CCCCTGAGTGAGGGGTGGGGGCCACCATCAGGAACCCTGAGTGAGAGGGT GGGGGCCAGTATCAGGACCCCTGAGTGAGAGGGTAGGGGCCACCATCAGG AA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01891.hp2 HG01496.hp2 HG01891.hp2	a0001 a0001	a0001c0015 a0001c0017 a0001c0015 a0001c0017	a0001c0015t0009 a0001c0017t0004 a0001c0015t0009 a0001c0017t0004	a0001c0015t0009g0031 a0001c0017t0004g0032 a0001c0015t0009g0031 a0001c0017t0004g0032	2	330	0.0061	101	c.430 others(116): Show c.430-233_430-232insTTCCTGATGGTGGCCCCTACCCTCTCACTC AGGGGTCCTGATACTGGCCCCCACCCTCTCACTCAGGGTTCCTGATGGTG GCCCCCACCCCTCACTCAGGG	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	5/48			chr2	TogoVar
KIF1A_chr2_240708767_240825219	240786821	T T	TGAGGGGT others(94): Show TGAGGGGTGGGGGCCGCCATCAGGAACCCTGAGTGAGAGGGTGGGGGCCA GTATCAGGACCCCTGAGTGAGAGGGTAGGGGCCACCATCAGGAACCCTGA GA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0007 a0001c0023t0007	a0001c0023t0007g0162 a0001c0023t0007g0162	1	330	0.0030	101	c.430 others(116): Show c.430-309_430-308insTCTCAGGGTTCCTGATGGTGGCCCCTACCC TCTCACTCAGGGGTCCTGATACTGGCCCCCACCCTCTCACTCAGGGTTCC TGATGGCGGCCCCCACCCCTC	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	5/48			chr2	TogoVar
KIF25_chr6_167992671_168050091	167997188	G G	GGTCGGGG others(94): Show GGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGGTGGGG GGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGC GA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0028 a0001c0001t0049g0028	1	375	0.0027	101	c.-22 others(112): Show c.-2281_-2280insGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAA TCTGCAGAGGTGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAAT CTGCAGAGATGGGGCGA	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		482		chr6	TogoVar
KIF26A_chr14_104133587_104185894	104170380	C C	CTTTTTTT others(94): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTT TT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	374	0.0027	101	c.111 others(120): Show c.1114-1343_1114-1342insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTGTTTTT	KIF26A	ENSG00000066735.16	transcript	ENST00000423312.7	protein_coding	5/14			chr14	TogoVar
KIRREL3_chr11_126418358_127005770	126473080	T T	TCTACCTA others(94): Show TCTACCTAACCCCCCAGCCCCTCCCAACCAGCCCCCCCGCCATCCCCCTC GCTACCTAACCCCCCCAGCCCCTCCCAACCAGCCCCCCCGCCATCCCCCT CG	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0033	1	114	0.0088	101	c.591 others(116): Show c.591+228_591+229insCGAGGGGGATGGCGGGGGGGCTGGTTGGGA GGGGCTGGGGGGGTTAGGTAGCGAGGGGGATGGCGGGGGGGCTGGTTGGG AGGGGCTGGGGGGTTAGGTAG	KIRREL3	ENSG00000149571.12	transcript	ENST00000525144.7	protein_coding	5/16			chr11	TogoVar
KLHDC1_chr14_49688120_49758150	49757570	A A	ACAGATGT others(94): Show ACAGATGTTCCACAACTTTTGTTGGTGTTAAGTCCCAATAAGCCCATTGT AAATTGAAAATATAAATCAAAAAATGCATAGTACACCTAACCTACCAAAC AT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 NA19011.hp1 HG00597.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0004 a0001c0001t0003g0005	2	208	0.0096	101	c.57 others(112): Show c.5798_*5799insCAGATGTTCCACAACTTTTGTTGGTGTTAAGTCC CAATAAGCCCATTGTAAATTGAAAATATAAATCAAAAAATGCATAGTACA CCTAACCTACCAAACAT	KLHDC1	ENSG00000197776.8	transcript	ENST00000359332.7	protein_coding		4421		chr14	TogoVar
KLHL1_chr13_69695597_70113452	69955996	G G	GATATATA others(94): Show GATATATATTTATATATATTTGATATATATATTTATATATATTTGATATA TATTTATATATATTTGATATATATATTTGATATATATTTATATATATTTG AT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0130 a0001c0001t0018g0130	1	182	0.0055	101	c.817 others(118): Show c.817+5311_817+5312insATCAAATATATATAAATATATATCAAAT ATATATATCAAATATATATAAATATATATCAAATATATATAAATATATAT ATCAAATATATATAAATATATAT	KLHL1	ENSG00000150361.12	transcript	ENST00000377844.9	protein_coding	3/10			chr13	TogoVar
KLHL23_chr2_169728832_169756878	169738992	T T	TCCTCCCC others(94): Show TCCTCCCCCCTCCCCCTCCTCCCCCTCCCCCTCCTCCCCCTCCCCCTCCT CCCCCCTCCCTCTCCTCCCCCTCCTCTCCCCTCCCTCTCTTCCCCCTGCT CC	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0045 a0001c0001t0006g0045	1	400	0.0025	101	c.121 others(120): Show c.1214-2386_1214-2385insCCTCCCCCTCCTCCCCCTCCCCCTCC TCCCCCTCCCCCTCCTCCCCCCTCCCTCTCCTCCCCCTCCTCTCCCCTCC CTCTCTTCCCCCTGCTCCCCTCCCC	KLHL23	ENSG00000213160.10	transcript	ENST00000392647.7	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
KLHL25_chr15_85754326_85799925	85757581	T T	TCCTCCTC others(94): Show TCCTCCTCCTCCTCCCCCTCCCCCTCCTCCTCCCCCTCCTCCTCCCCCTC CTCCCCCCTTCCTCCCCCTCCCCCCTCCCCTCCCCCTCCTCCCTCCCCTC CC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	406	0.0025	101	c.34 others(112): Show c.3454_*3455insGGGAGGGGAGGGAGGAGGGGGAGGGGAGGGGGGA GGGGGAGGAAGGGGGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGA GGGGGAGGAGGAGGAGG	KLHL25	ENSG00000183655.13	transcript	ENST00000337975.6	protein_coding		1744		chr15	TogoVar
KLHL6_chr3_183482551_183560706	183534131	T T	TAAAAGTA others(94): Show TAAAAGTACTTTACTTTTAAAGTACTTTAAAAGTACTTTACTTTTAAAGT ACTTTAAAAGTACTTTACTTTTAAAGTACTTTAAAAGTACTTTACTTTTA AA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0091 a0001c0001t0091	a0001c0001t0091g0208 a0001c0001t0091g0208	1	298	0.0034	101	c.294 others(118): Show c.294-6122_294-6121insTTTAAAAGTAAAGTACTTTTAAAGTACT TTAAAAGTAAAGTACTTTTAAAGTACTTTAAAAGTAAAGTACTTTTAAAG TACTTTAAAAGTAAAGTACTTTT	KLHL6	ENSG00000172578.12	transcript	ENST00000341319.8	protein_coding	1/6			chr3	TogoVar
KRT8_chr12_52892191_52910076	52894985	A A	AGAAAGAA others(94): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	386	0.0026	101	c.24 others(112): Show c.2442_*2443insCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTC	KRT8	ENSG00000170421.13	transcript	ENST00000692008.1	protein_coding		2205		chr12	TogoVar
LAMA5_chr20_62304065_62372312	62360546	G G	GGTGGAGG others(94): Show GGTGGAGGGATAGATGGGTGGGTGGGTAGAAGGATAGGTAGGTGGGTGGG TGGGTGGATGGATAGGTGGATGGGTGGGTGGAGGAATAGATGGGTGGGTG GA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0021 a0021	a0021c0077 a0021c0077	a0021c0077t0001 a0021c0077t0001	a0021c0077t0001g0018 a0021c0077t0001g0018	1	186	0.0054	101	c.450 others(118): Show c.450+1853_450+1854insTCCACCCACCCATCTATTCCTCCACCCA CCCATCCACCTATCCATCCACCCACCCACCCACCTACCTATCCTTCTACC CACCCACCCATCTATCCCTCCAC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	2/79			chr20	TogoVar
LASP1NB_chr17_38920614_38934381	38930756	G G	GCGGGGGA others(94): Show GCGGGGGAGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	422	0.0024	101	c.44 others(112): Show c.4460_*4461insCGGGGGAGCTGACCCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGC	LASP1NB	ENSG00000263874.3	transcript	ENST00000583195.3	protein_coding		1376		chr17	TogoVar
LAT2_chr7_74205006_74234834	74214722	A A	AATATATA others(94): Show AATATATATATATGAAAATATATATATAAATATATATGAAAATATATATA TAAATATATATATATGAAAATATATATATAAATATATATATGAAAATAAT AT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0015 a0001c0002t0001g0015	1	344	0.0029	101	c.-21 others(116): Show c.-218-95_-218-94insTATATATGAAAATATATATATAAATATATA TGAAAATATATATATAAATATATATATATGAAAATATATATATAAATATA TATATGAAAATAATATATATA	LAT2	ENSG00000086730.17	transcript	ENST00000460943.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
LCN15_chr9_136754634_136769518	136769443	A A	ACCCCTCC others(94): Show ACCCCTCCATGCACTGCCCCCCCCCGCCACCCCTCCATGCACTGCCCCCC CCGCCACCCCTCCATGCACTGCCCCCCCCGCCACCCCTCCATGCACTGCC CC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	356	0.0028	101	c.-49 others(112): Show c.-4956_-4955insGGGGCAGTGCATGGAGGGGTGGCGGGGGGGGCAG TGCATGGAGGGGTGGCGGGGGGGGCAGTGCATGGAGGGGTGGCGGGGGGG GGCAGTGCATGGAGGGG	LCN15	ENSG00000177984.7	transcript	ENST00000316144.6	protein_coding		4926		chr9	TogoVar
LCN15_chr9_136754634_136769518	136769483	A A	ACACCCCC others(94): Show ACACCCCCCATGCACTGCCCCCCCCGCCACCCCGCCACCCCCCATGCACT GCCCCCCCCGACACCCCGACACCCCCCATGCACTGCCCCCCCGCCACCCC GC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	356	0.0028	101	c.-49 others(112): Show c.-4996_-4995insGCGGGGTGGCGGGGGGGCAGTGCATGGGGGGTGT CGGGGTGTCGGGGGGGGCAGTGCATGGGGGGTGGCGGGGTGGCGGGGGGG GCAGTGCATGGGGGGTG	LCN15	ENSG00000177984.7	transcript	ENST00000316144.6	protein_coding		4966		chr9	TogoVar
LCN15_chr9_136754634_136769518	136769483	A A	ACACCCCC others(94): Show ACACCCCCCATGCACTGCCCCCCCGCCACCCCGCCACCCCCCATGCACTG CCCCCCCCGACACCCCGACAACCCCCCATGCACTGCCCCCCCGCCACCCC GC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	356	0.0028	101	c.-49 others(112): Show c.-4996_-4995insGCGGGGTGGCGGGGGGGCAGTGCATGGGGGGTTG TCGGGGTGTCGGGGGGGGCAGTGCATGGGGGGTGGCGGGGTGGCGGGGGG GCAGTGCATGGGGGGTG	LCN15	ENSG00000177984.7	transcript	ENST00000316144.6	protein_coding		4966		chr9	TogoVar
LIG4_chr13_108202442_108220536	108215427	C C	CCTCCCAA others(94): Show CCTCCCAACCCCCCACCCCCCCCGCCCCCACCTCCCAACCCCCCACCCCC CCGCCCCCACCTCCCAACCCCCCACCCCCCCCGCCCCCACCTCCCAACCC CT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0052 a0001c0004t0004g0052	1	374	0.0027	101	c.-10 others(116): Show c.-102+56_-102+57insAGGGGTTGGGAGGTGGGGGCGGGGGGGGTG GGGGGTTGGGAGGTGGGGGCGGGGGGGTGGGGGGTTGGGAGGTGGGGGCG GGGGGGGTGGGGGGTTGGGAG	LIG4	ENSG00000174405.15	transcript	ENST00000442234.6	protein_coding	1/2			chr13	TogoVar
LMAN2_chr5_177326567_177356668	177350615	A A	ACCCCCCA others(94): Show ACCCCCCAACAACCAACCCATCCACCACCCCCCCCCAACCAAACCCCAAC CCCACCCACCCCCCCCCACCTCCCCAACCCCCCCCCCCCCCCCCCCCCCC AC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0005 a0005	a0005c0003 a0005c0003	a0005c0003t0001 a0005c0003t0001	a0005c0003t0001g0041 a0005c0003t0001g0041	1	376	0.0027	101	c.315 others(116): Show c.315+557_315+558insGTGGGGGGGGGGGGGGGGGGGGGGGTTGGG GAGGTGGGGGGGGGTGGGTGGGGTTGGGGTTTGGTTGGGGGGGGGTGGTG GATGGGTTGGTTGTTGGGGGG	LMAN2	ENSG00000169223.16	transcript	ENST00000303127.12	protein_coding	2/7			chr5	TogoVar

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Search Results (Total: 10000 hits)