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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
KIF13A_chr6_17758693_17992635	17859638	A A	ATATATAT others(20): Show ATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0046 a0001c0046	a0001c0046t0001 a0001c0046t0001	a0001c0046t0001g0015 a0001c0046t0001g0015	1	282	0.0036	27	c.221 others(44): Show c.221-3517_221-3516insAAAAAAAAATATATATATATATATATA		KIF13A	ENSG00000137177.20	transcript	ENST00000259711.11	protein_coding	4/38						chr6	TogoVar
KIF13A_chr6_17758693_17992635	17869019	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA20905.hp1 HG02083.hp1 NA20905.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0086 a0001c0003t0001g0273 a0001c0003t0001g0086 a0001c0003t0001g0273	2	282	0.0071	27	c.220 others(44): Show c.220+4357_220+4358insGTTTTTTTTTTTTTTTTTTTTTTTTTT		KIF13A	ENSG00000137177.20	transcript	ENST00000259711.11	protein_coding	4/38						chr6	TogoVar
KIF13B_chr8_29062278_29268070	29098170	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02647.hp2 HG02896.hp1 others(3): Show HG02602.hp2 HG02647.hp2 HG02896.hp1 HG02970.hp2 HG03453.hp1 NA19079.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0003 a0006c0007 a0001c0001 a0001c0003 a0006c0007	a0001c0001t0003 a0001c0001t0011 a0001c0001t0039 others(2): Show a0001c0001t0003 a0001c0001t0011 a0001c0001t0039 a0001c0003t0003 a0006c0007t0003	a0001c0001t0003g0010 a0001c0001t0003g0153 a0001c0001t0011g0138 others(3): Show a0001c0001t0003g0010 a0001c0001t0003g0153 a0001c0001t0011g0138 a0001c0001t0039g0288 a0001c0003t0003g0065 a0006c0007t0003g0185	6	288	0.0208	27	c.432 others(44): Show c.4324+962_4324+963insTTTTTTTTTTTTTTTTTTTTTTTTTTT		KIF13B	ENSG00000197892.13	transcript	ENST00000524189.6	protein_coding	36/39						chr8	TogoVar
KIF13B_chr8_29062278_29268070	29228472	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0033 a0001c0033	a0001c0033t0030 a0001c0033t0030	a0001c0033t0030g0267 a0001c0033t0030g0267	1	288	0.0035	27	c.149 others(46): Show c.149+16873_149+16874insATATATATATATATATTTTTTTTTTT T		KIF13B	ENSG00000197892.13	transcript	ENST00000524189.6	protein_coding	2/39						chr8	TogoVar
KIF14_chr1_200546500_200625751	200573427	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02976.hp2 NA19043.hp2 HG02886.hp2 HG02976.hp2 NA19043.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0008 a0003c0006t0016 a0003c0006t0008 a0003c0006t0016	a0003c0006t0008g0053 a0003c0006t0008g0055 a0003c0006t0016g0054 a0003c0006t0008g0053 a0003c0006t0008g0055 a0003c0006t0016g0054	3	390	0.0077	27	c.356 others(46): Show c.3566+2163_3566+2164insAAAAAAAAAAAAAAAAAAAAAAAAAA A		KIF14	ENSG00000118193.12	transcript	ENST00000367350.5	protein_coding	22/29						chr1	TogoVar
KIF16B_chr20_16267104_16578448	16469254	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0001 a0001c0017t0001	a0001c0017t0001g0087 a0001c0017t0001g0087	1	250	0.0040	27	c.130 others(48): Show c.1302+25036_1302+25037insTTTTTTTTTTTTTTTTTTTTTTTT TTT		KIF16B	ENSG00000089177.20	transcript	ENST00000354981.7	protein_coding	12/25						chr20	TogoVar
KIF17_chr1_20659014_20723007	20712547	G G	GATATTAT others(20): Show GATATTATCTATATTATATATATAGATA	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18984.hp2 NA19082.hp1 others(1): Show NA18948.hp1 NA18984.hp2 NA19082.hp1 NA19088.hp2	a0002 a0003 a0002 a0003	a0002c0013 a0003c0007 a0002c0013 a0003c0007	a0002c0013t0001 a0003c0007t0001 a0002c0013t0001 a0003c0007t0001	a0002c0013t0001g0317 a0003c0007t0001g0316 a0003c0007t0001g0318 others(1): Show a0002c0013t0001g0317 a0003c0007t0001g0316 a0003c0007t0001g0318 a0003c0007t0001g0319	4	414	0.0097	27	c.480 others(42): Show c.480+880_480+906dupTATCTATATATATAATATAGATAATAT		KIF17	ENSG00000117245.13	transcript	ENST00000400463.8	protein_coding	3/14						chr1	TogoVar
KIF17_chr1_20659014_20723007	20712561	T T	TATATATA others(20): Show TATATATATAGATAATATTATCTATATA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0001 a0003c0015t0001	a0003c0015t0001g0340 a0003c0015t0001g0340	1	414	0.0024	27	c.480 others(42): Show c.480+866_480+892dupTATATAGATAATATTATCTATATATAT		KIF17	ENSG00000117245.13	transcript	ENST00000400463.8	protein_coding	3/14						chr1	TogoVar
KIF19_chr17_74321226_74360820	74355642	G G	GACGGGGC others(20): Show GACGGGGCTCCTGGCCCACGTGTGGGGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01243.hp1 HG01884.hp2 HG02055.hp2 others(11): Show HG01243.hp1 HG01884.hp2 HG02055.hp2 HG02451.hp2 HG02559.hp2 HG02970.hp2 HG03225.hp2 HG03486.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2	a0005 a0010 a0005 a0010	a0005c0007 a0005c0052 a0010c0029 others(1): Show a0005c0007 a0005c0052 a0010c0029 a0010c0031	a0005c0007t0005 a0005c0052t0005 a0010c0029t0005 others(1): Show a0005c0007t0005 a0005c0052t0005 a0010c0029t0005 a0010c0031t0005	a0005c0007t0005g0040 a0005c0007t0005g0051 a0005c0007t0005g0052 others(11): Show a0005c0007t0005g0040 a0005c0007t0005g0051 a0005c0007t0005g0052 a0005c0007t0005g0053 a0005c0007t0005g0055 a0005c0007t0005g0056 a0005c0007t0005g0057 a0005c0007t0005g0060 a0005c0007t0005g0298 a0005c0007t0005g0315 a0005c0007t0005g0342 a0005c0052t0005g0213 a0010c0029t0005g0037 a0010c0031t0005g0066	14	412	0.0340	27	c.33 others(36): Show c.336_*362dupGCTCCTGGCCCACGTGTGGGGCACGGG		KIF19	ENSG00000196169.15	transcript	ENST00000389916.5	protein_coding	20/20				363	INFO_REALIGN_3_PRIME	chr17	TogoVar
KIF1B_chr1_10205570_10386603	10273709	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0251 a0001c0001t0061g0251	1	300	0.0033	27	c.882 others(42): Show c.882+682_882+708dupAAAAAAAAAAAAAAAAAAAAAAAAAAA		KIF1B	ENSG00000054523.20	transcript	ENST00000676179.1	protein_coding	10/48					INFO_REALIGN_3_PRIME	chr1	TogoVar
KIF21A_chr12_39288228_39448120	39436448	A A	ATATATAT others(20): Show ATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0144 a0001c0001t0003g0144	1	298	0.0034	27	c.44+ others(42): Show c.44+6478_44+6479insAAAAATATATATATATATATATATATA		KIF21A	ENSG00000139116.19	transcript	ENST00000361418.10	protein_coding	1/37						chr12	TogoVar
KIF21A_chr12_39288228_39448120	39436449	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03139.hp2 HG03486.hp1 HG01884.hp2 HG03139.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0006 a0001c0001t0004g0014 a0001c0001t0004g0017 a0001c0001t0004g0006 a0001c0001t0004g0014 a0001c0001t0004g0017	3	298	0.0101	27	c.44+ others(42): Show c.44+6477_44+6478insTATATATATATATATATATATATATAT		KIF21A	ENSG00000139116.19	transcript	ENST00000361418.10	protein_coding	1/37						chr12	TogoVar
KIF21A_chr12_39288228_39448120	39441660	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp1 NA18953.hp2 HG03209.hp1 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0001 a0001c0001t0005 a0001c0002t0001	a0001c0001t0005g0275 a0001c0002t0001g0276 a0001c0001t0005g0275 a0001c0002t0001g0276	2	298	0.0067	27	c.44+ others(42): Show c.44+1266_44+1267insTTTTTTTTTTTTTTTTTTTTTTTTTTT		KIF21A	ENSG00000139116.19	transcript	ENST00000361418.10	protein_coding	1/37						chr12	TogoVar
KIF21B_chr1_200964390_201028714	200985769	A A	ACTCCCCT others(20): Show ACTCCCCTCCCCTTCCCCCTCCCCTCCC	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0161 a0001c0001t0004g0161	1	342	0.0029	27	c.369 others(44): Show c.3690-824_3690-798dupGGGAGGGGAGGGGGAAGGGGAGGGGAG		KIF21B	ENSG00000116852.15	transcript	ENST00000461742.7	protein_coding	26/34						chr1	TogoVar
KIF22_chr16_29785751_29810384	29786652	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00597.hp2 HG00609.hp1 others(5): Show HG00099.hp2 HG00597.hp2 HG00609.hp1 HG01106.hp2 HG02027.hp2 HG03486.hp1 NA18998.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0014 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0037 a0001c0001t0001g0060 a0001c0001t0001g0082 a0001c0001t0001g0084	8	206	0.0388	27	c.-41 others(38): Show c.-4108_-4107insTTTTTTTTTTTTTTTTTTTTTTTTTTT		KIF22	ENSG00000079616.14	transcript	ENST00000160827.9	protein_coding					4098		chr16	TogoVar
KIF25_chr6_167992671_168050091	167997412	G G	GTCGGGGG others(20): Show GTCGGGGGAATCTGCAGAGATGGGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0113 a0001c0001t0007g0113	1	375	0.0027	27	c.-20 others(38): Show c.-2057_-2056insTCGGGGGAATCTGCAGAGATGGGGGGT		KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding					258		chr6	TogoVar
KIF26B_chr1_245149985_245714432	245184050	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01981.hp1 HG03139.hp2 others(3): Show HG01192.hp1 HG01981.hp1 HG03139.hp2 HG03225.hp1 NA19004.hp1 NA20300.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0002 a0001c0004 a0001c0010 others(3): Show a0001c0002 a0001c0004 a0001c0010 a0002c0008 a0003c0006 a0005c0017	a0001c0002t0019 a0001c0004t0007 a0001c0010t0026 others(3): Show a0001c0002t0019 a0001c0004t0007 a0001c0010t0026 a0002c0008t0004 a0003c0006t0021 a0005c0017t0009	a0001c0002t0019g0061 a0001c0004t0007g0019 a0001c0010t0026g0060 others(3): Show a0001c0002t0019g0061 a0001c0004t0007g0019 a0001c0010t0026g0060 a0002c0008t0004g0089 a0003c0006t0021g0066 a0005c0017t0009g0143	6	160	0.0375	27	c.465 others(46): Show c.465+27386_465+27387insTTTTTTTTTTTTTTTTTTTTTTTTTT T		KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
KIF26B_chr1_245149985_245714432	245444037	A A	AGGTCATC others(20): Show AGGTCATCTCCTTCACTGTTCACCCTGC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00639.hp2 HG00738.hp1 others(14): Show HG00408.hp1 HG00639.hp2 HG00738.hp1 HG01071.hp1 HG01192.hp2 HG02056.hp2 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02976.hp1 HG03098.hp2 HG03209.hp1 NA18522.hp1 NA18906.hp1 NA19002.hp1 NA19011.hp2 NA20300.hp1	a0001 a0003 a0005 others(2): Show a0001 a0003 a0005 a0006 a0020	a0001c0001 a0001c0002 a0001c0004 others(11): Show a0001c0001 a0001c0002 a0001c0004 a0001c0009 a0001c0013 a0001c0022 a0001c0055 a0003c0006 a0003c0030 a0003c0031 a0005c0017 a0005c0058 a0006c0015 a0020c0033	a0001c0001t0002 a0001c0002t0005 a0001c0002t0050 others(13): Show a0001c0001t0002 a0001c0002t0005 a0001c0002t0050 a0001c0004t0013 a0001c0004t0040 a0001c0009t0012 a0001c0013t0001 a0001c0022t0055 a0001c0055t0027 a0003c0006t0021 a0003c0030t0074 a0003c0031t0076 a0005c0017t0009 a0005c0058t0079 a0006c0015t0060 a0020c0033t0031	a0001c0001t0002g0062 a0001c0002t0005g0017 a0001c0002t0005g0139 others(14): Show a0001c0001t0002g0062 a0001c0002t0005g0017 a0001c0002t0005g0139 a0001c0002t0050g0102 a0001c0004t0013g0103 a0001c0004t0040g0096 a0001c0009t0012g0099 a0001c0013t0001g0056 a0001c0022t0055g0137 a0001c0055t0027g0080 a0003c0006t0021g0025 a0003c0030t0074g0021 a0003c0031t0076g0030 a0005c0017t0009g0143 a0005c0058t0079g0043 a0006c0015t0060g0004 a0020c0033t0031g0002	17	160	0.1063	27	c.116 others(48): Show c.1166+24302_1166+24303insTTCACTGTTCACCCTGCGGTCATC TCC		KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	4/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
KIF26B_chr1_245149985_245714432	245444210	A A	AGGTCATT others(20): Show AGGTCATTTCCCTCACTGTTCACCCTGC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01071.hp2 HG01175.hp2 others(10): Show HG00323.hp1 HG01071.hp2 HG01175.hp2 HG01261.hp1 HG01884.hp1 HG01981.hp2 HG02145.hp2 HG02257.hp1 HG02809.hp2 HG02897.hp2 HG03540.hp2 NA18522.hp2 NA19240.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0006 a0018 a0021	a0001c0001 a0001c0002 a0002c0003 others(6): Show a0001c0001 a0001c0002 a0002c0003 a0002c0008 a0004c0011 a0004c0019 a0006c0015 a0018c0043 a0021c0059	a0001c0001t0008 a0001c0001t0016 a0001c0001t0087 others(9): Show a0001c0001t0008 a0001c0001t0016 a0001c0001t0087 a0001c0002t0010 a0002c0003t0004 a0002c0003t0022 a0002c0008t0006 a0004c0011t0032 a0004c0019t0058 a0006c0015t0015 a0018c0043t0039 a0021c0059t0011	a0001c0001t0008g0052 a0001c0001t0016g0097 a0001c0001t0087g0087 others(10): Show a0001c0001t0008g0052 a0001c0001t0016g0097 a0001c0001t0087g0087 a0001c0002t0010g0034 a0001c0002t0010g0035 a0002c0003t0004g0140 a0002c0003t0022g0155 a0002c0008t0006g0095 a0004c0011t0032g0134 a0004c0019t0058g0111 a0006c0015t0015g0075 a0018c0043t0039g0133 a0021c0059t0011g0082	13	160	0.0813	27	c.116 others(48): Show c.1166+24471_1166+24472insTTCCCTCACTGTTCACCCTGCGGT CAT		KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	4/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
KIF26B_chr1_245149985_245714432	245527524	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0008 a0001c0007t0008	a0001c0007t0008g0067 a0001c0007t0008g0067	1	160	0.0063	27	c.116 others(48): Show c.1167-13242_1167-13216dupTTTTTTTTTTTTTTTTTTTTTTTT TTT		KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	4/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
KIF27_chr9_83829099_83926432	83848070	G G	GATATATA others(20): Show GATATATATGATATATCATATATATGAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02818.hp1 HG02897.hp2 others(5): Show HG02055.hp2 HG02818.hp1 HG02897.hp2 HG03453.hp2 HG03540.hp1 HG06807.hp1 NA18522.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0024 a0001c0001 a0001c0024	a0001c0001t0001 a0001c0024t0001 a0001c0001t0001 a0001c0024t0001	a0001c0001t0001g0100 a0001c0001t0001g0105 a0001c0001t0001g0106 others(5): Show a0001c0001t0001g0100 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0161 a0001c0001t0001g0173 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0024t0001g0089	8	346	0.0231	27	c.355 others(46): Show c.3556+2028_3556+2029insATCATATATATGATATATCATATATA T		KIF27	ENSG00000165115.15	transcript	ENST00000297814.7	protein_coding	16/17						chr9	TogoVar
KIF27_chr9_83829099_83926432	83848109	C C	CATATATC others(20): Show CATATATCTGATATATATGATATATCAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0336 a0001c0002t0009g0336	1	346	0.0029	27	c.355 others(46): Show c.3556+1989_3556+1990insATGATATATCATATATATCAGATATA T		KIF27	ENSG00000165115.15	transcript	ENST00000297814.7	protein_coding	16/17						chr9	TogoVar
KIF27_chr9_83829099_83926432	83848132	C C	CATATATA others(20): Show CATATATATGATATATATGATATATCAT	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0312 a0003c0004t0001g0312	1	346	0.0029	27	c.355 others(46): Show c.3556+1966_3556+1967insATGATATATCATATATATCATATATA T		KIF27	ENSG00000165115.15	transcript	ENST00000297814.7	protein_coding	16/17						chr9	TogoVar
KIF3B_chr20_32272651_32340011	32299403	A A	ATATATAT others(20): Show ATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG03130.hp1 HG02738.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0023 a0001c0002t0004 a0001c0002t0023	a0001c0002t0004g0041 a0001c0002t0023g0078 a0001c0002t0004g0041 a0001c0002t0023g0078	2	242	0.0083	27	c.-65 others(46): Show c.-65-10309_-65-10308insATATATATATATATATATATATTTTT T		KIF3B	ENSG00000101350.8	transcript	ENST00000375712.4	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr20	TogoVar
KIF5B_chr10_32004015_32061425	32006436	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG01928.hp1 HG02273.hp1 others(3): Show HG01358.hp1 HG01928.hp1 HG02273.hp1 HG02723.hp1 NA18941.hp1 NA18982.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0003c0006t0002	a0001c0001t0001g0011 a0001c0001t0001g0142 a0001c0001t0001g0165 others(3): Show a0001c0001t0001g0011 a0001c0001t0001g0142 a0001c0001t0001g0165 a0001c0001t0002g0269 a0001c0001t0004g0202 a0003c0006t0002g0249	6	364	0.0165	27	c.51 others(38): Show c.5100_*5101insTTTTTTTTTTTTTTTTTTTTTTTTTTT		KIF5B	ENSG00000170759.11	transcript	ENST00000302418.5	protein_coding					2578		chr10	TogoVar
KIF6_chr6_39324990_39730408	39349631	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0015 a0005c0008t0015	a0005c0008t0015g0131 a0005c0008t0015g0131	1	174	0.0058	27	c.218 others(46): Show c.2181-3132_2181-3106dupAAAAAAAAAAAAAAAAAAAAAAAAAA A		KIF6	ENSG00000164627.18	transcript	ENST00000287152.12	protein_coding	19/22						chr6	TogoVar
KIFAP3_chr1_169916329_170079695	169928699	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp2 NA20805.hp2 HG02723.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0306 a0001c0001t0001g0341 a0001c0001t0001g0306 a0001c0001t0001g0341	2	372	0.0054	27	c.227 others(46): Show c.2274-6919_2274-6918insTTTTTTTTTTTTTTTTTTTTTTTTTT T		KIFAP3	ENSG00000075945.13	transcript	ENST00000361580.7	protein_coding	19/19						chr1	TogoVar
KIFBP_chr10_68983803_69021982	69008391	A A	AAATATAT others(20): Show AAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0310 a0002c0002t0002g0310	1	408	0.0025	27	c.790 others(42): Show c.790-449_790-448insATATATATATATATATATATATATATA		KIFBP	ENSG00000198954.9	transcript	ENST00000361983.7	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr10	TogoVar
KIFBP_chr10_68983803_69021982	69008391	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG06807.hp1 HG03516.hp1 HG06807.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0252 a0002c0002t0002g0319 a0002c0002t0002g0252 a0002c0002t0002g0319	2	408	0.0049	27	c.790 others(42): Show c.790-450_790-449insTATATATATATATATATATATATATAT		KIFBP	ENSG00000198954.9	transcript	ENST00000361983.7	protein_coding	4/6						chr10	TogoVar
KISS1_chr1_204185341_204201491	204200304	T T	TATATATA others(20): Show TATATATATATATATATTATATAATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0000 a0000	a0000c0002 a0000c0002	a0000c0002t0002 a0000c0002t0002	a0000c0002t0002g0067 a0000c0002t0002g0067	1	400	0.0025	27	c.-39 others(38): Show c.-3968_-3967insTATATTATATAATATATATATATATAT		KISS1	ENSG00000170498.10	transcript	ENST00000367194.5	protein_coding					3814		chr1	TogoVar
KLB_chr4_39401930_39456533	39429657	A A	AAAAGTGT others(20): Show AAAAGTGTAGAATGGCTGTTGACCTTGG	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0274 a0001c0002t0006g0274	1	380	0.0026	27	c.826 others(44): Show c.826-4533_826-4532insACCTTGGAAAGTGTAGAATGGCTGTTG		KLB	ENSG00000134962.7	transcript	ENST00000257408.5	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr4	TogoVar
KLF11_chr2_10038550_10059836	10043258	G G	GCCGCCCC others(20): Show GCCGCCCCCTCCGCCCCCGCCGCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01517.hp1 HG01993.hp1 HG02055.hp2 others(3): Show HG01517.hp1 HG01993.hp1 HG02055.hp2 HG03688.hp1 NA18951.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0001 a0001c0001t0001 a0001c0008t0001	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0016 others(3): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0024 a0001c0001t0001g0046 a0001c0008t0001g0040	6	414	0.0145	27	c.-45 others(36): Show c.-459_-458insCCGCCCCCTCCGCCCCCGCCGCCCCCT		KLF11	ENSG00000172059.11	transcript	ENST00000305883.6	protein_coding					291		chr2	TogoVar
KLF15_chr3_126337635_126362408	126343153	C C	CCCCCCAC others(20): Show CCCCCCACCCCCCCCACCCCCCCCCCCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00609.hp2 NA18990.hp2 HG00609.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0109 a0001c0001t0047g0181 a0001c0001t0047g0109 a0001c0001t0047g0181	2	382	0.0052	27	c.57 others(36): Show c.573_*574insTGGGGGGGGGGGTGGGGGGGGTGGGGG		KLF15	ENSG00000163884.4	transcript	ENST00000296233.4	protein_coding	3/3				573		chr3	TogoVar
KLHDC10_chr7_130065534_130140705	130128889	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0075 a0001c0001t0004g0075	1	386	0.0026	27	c.980 others(42): Show c.980-547_980-546insAAAAAAAAAAAAATATATATATATATA		KLHDC10	ENSG00000128607.14	transcript	ENST00000335420.10	protein_coding	8/9					INFO_REALIGN_3_PRIME	chr7	TogoVar
KLHDC10_chr7_130065534_130140705	130128889	A A	AAAAAAAA others(20): Show AAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0078 a0001c0001t0004g0078	1	386	0.0026	27	c.980 others(42): Show c.980-547_980-546insAAAAAAAAATATATATATATATATATA		KLHDC10	ENSG00000128607.14	transcript	ENST00000335420.10	protein_coding	8/9					INFO_REALIGN_3_PRIME	chr7	TogoVar
KLHDC1_chr14_49688120_49758150	49693748	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00673.hp2 HG01074.hp2 others(12): Show HG00597.hp1 HG00673.hp2 HG01074.hp2 HG01175.hp2 HG02083.hp1 HG02155.hp1 HG02630.hp1 HG03225.hp1 HG03225.hp2 NA18978.hp2 NA18981.hp2 NA18985.hp1 NA18985.hp2 NA18988.hp1 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0007 a0001c0001 a0001c0005 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0005t0001 a0001c0007t0001	a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 others(12): Show a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0002g0142 a0001c0001t0004g0138 a0001c0005t0001g0136 a0001c0005t0001g0137 a0001c0007t0001g0135	15	208	0.0721	27	c.96+ others(40): Show c.96+474_96+475insTTTTTTTTTTTTTTTTTTTTTTTTTTT		KLHDC1	ENSG00000197776.8	transcript	ENST00000359332.7	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr14	TogoVar
KLHDC1_chr14_49688120_49758150	49754069	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAAAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	208	0.0048	27	c.22 others(38): Show c.2297_*2298insAAAAAAAAAAAAAAAAAAAATATATAT		KLHDC1	ENSG00000197776.8	transcript	ENST00000359332.7	protein_coding					920		chr14	TogoVar
KLHDC1_chr14_49688120_49758150	49754069	A A	AAAAAAAA others(20): Show AAAAAAAAATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	208	0.0048	27	c.22 others(38): Show c.2297_*2298insAAAAAAAATATATATATATATATATAT		KLHDC1	ENSG00000197776.8	transcript	ENST00000359332.7	protein_coding					920		chr14	TogoVar
KLHDC1_chr14_49688120_49758150	49754069	A A	AAAAAAAT others(20): Show AAAAAAATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 NA18906.hp2 HG02922.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0114 a0001c0001t0001g0021 a0001c0001t0001g0114	2	208	0.0096	27	c.22 others(38): Show c.2297_*2298insAAAAAATATATATATATATATATATAT		KLHDC1	ENSG00000197776.8	transcript	ENST00000359332.7	protein_coding					920		chr14	TogoVar
KLHDC1_chr14_49688120_49758150	49754069	A A	AAAAATAT others(20): Show AAAAATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	208	0.0048	27	c.22 others(38): Show c.2297_*2298insAAAATATATATATATATATATATATAT		KLHDC1	ENSG00000197776.8	transcript	ENST00000359332.7	protein_coding					920		chr14	TogoVar
KLHDC2_chr14_49763153_49791385	49766569	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	336	0.0030	27	c.-19 others(38): Show c.-1900_-1899insTTTTTTTTTTTTTTTTTTTTTTTTTTT		KLHDC2	ENSG00000165516.11	transcript	ENST00000298307.10	protein_coding					1583		chr14	TogoVar
KLHL13_chrX_117892813_118121810	117962041	A A	AAATAATA others(20): Show AAATAATAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp1 HG02280.hp2 others(5): Show HG01891.hp1 HG02055.hp1 HG02280.hp2 HG02559.hp2 HG02647.hp1 HG03453.hp2 HG03540.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0206 others(5): Show a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0206 a0001c0002t0003g0197 a0001c0002t0003g0198 a0001c0002t0003g0199 a0001c0002t0003g0200 a0001c0002t0003g0201	8	207	0.0387	27	c.51- others(44): Show c.51-16467_51-16466insATTATTATTATTATTATTATTATTATT		KLHL13	ENSG00000003096.15	transcript	ENST00000540167.6	protein_coding	2/7						chrX	TogoVar
KLHL13_chrX_117892813_118121810	117991137	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0058 a0001c0003t0001g0058	1	207	0.0048	27	c.50+ others(44): Show c.50+37286_50+37287insTTTTTTTTTTTTTTTTTTTTTTTTTTT		KLHL13	ENSG00000003096.15	transcript	ENST00000540167.6	protein_coding	2/7						chrX	TogoVar
KLHL13_chrX_117892813_118121810	118089620	G G	GAGAAAGA others(20): Show GAGAAAGAAAGAAAGAAAGAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03130.hp1 NA18522.hp1 HG01884.hp2 HG03130.hp1 NA18522.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0003c0007 a0001c0003 a0003c0007	a0001c0003t0002 a0003c0007t0002 a0001c0003t0002 a0003c0007t0002	a0001c0003t0002g0190 a0001c0003t0002g0192 a0003c0007t0002g0191 a0001c0003t0002g0190 a0001c0003t0002g0192 a0003c0007t0002g0191	3	207	0.0145	27	c.-25 others(46): Show c.-25+26887_-25+26888insTTCTTTCTTCTTTCTTTCTTTCTTTC T		KLHL13	ENSG00000003096.15	transcript	ENST00000540167.6	protein_coding	1/7						chrX	TogoVar
KLHL14_chr18_32667673_32778023	32773926	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG01071.hp2 HG01256.hp2 others(2): Show HG00673.hp1 HG01071.hp2 HG01256.hp2 HG02818.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 a0001c0001t0001 a0001c0001t0002 a0001c0003t0002	a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0198 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0198 a0001c0001t0002g0162 a0001c0003t0002g0079	5	204	0.0245	27	c.-13 others(38): Show c.-1304_-1303insAAAAAAAAAAAAAAAAAAAAAAAAAAA		KLHL14	ENSG00000197705.10	transcript	ENST00000359358.9	protein_coding					904		chr18	TogoVar
KLHL15_chrX_23978720_24032186	24015753	G G	GTCTGGGA others(20): Show GTCTGGGAGGCCGAGGTGGGCAGATCAC	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0012 a0002c0004t0012	a0002c0004t0012g0024 a0002c0004t0012g0024	1	286	0.0035	27	c.-8+ others(42): Show c.-8+9077_-7-9054dupGTGATCTGCCCACCTCGGCCTCCCAGA		KLHL15	ENSG00000174010.10	transcript	ENST00000328046.8	protein_coding	2/3						chrX	TogoVar
KLHL1_chr13_69695597_70113452	69818219	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG02258.hp1 HG02698.hp2 others(1): Show HG01071.hp1 HG02258.hp1 HG02698.hp2 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0001t0011 a0001c0002t0025 a0001c0001t0008 a0001c0001t0011 a0001c0002t0025	a0001c0001t0008g0075 a0001c0001t0008g0097 a0001c0001t0011g0133 others(1): Show a0001c0001t0008g0075 a0001c0001t0008g0097 a0001c0001t0011g0133 a0001c0002t0025g0182	4	182	0.0220	27	c.141 others(48): Show c.1414+20756_1414+20757insAAAAAAAAAAAAAAAAAAAAAAAA AAA		KLHL1	ENSG00000150361.12	transcript	ENST00000377844.9	protein_coding	6/10						chr13	TogoVar
KLHL1_chr13_69695597_70113452	70107442	G G	GGAGGAAG others(20): Show GGAGGAAGAGGACGGGGAGGACGACGAA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03041.hp2 HG03041.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0023 a0005c0009t0023	a0005c0009t0023g0179 a0005c0009t0023g0179	1	182	0.0055	27	c.257 others(34): Show c.257_258insTTCGTCGTCCTCCCCGTCCTCTTCCTC	p.Ser others(38): Show p.Ser86_Ser87insSerSerSerSerProSerSerSerSer	KLHL1	ENSG00000150361.12	transcript	ENST00000377844.9	protein_coding	1/11	1010/4105	257/2247	86/748			chr13	TogoVar
KLHL22_chr22_20436519_20500795	20478162	T T	TTTTTATT others(20): Show TTTTTATTGTTTTTCTTTTTCACCAAAA	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	340	0.0029	27	c.228 others(44): Show c.228-6674_228-6648dupTTTTGGTGAAAAAGAAAAACAATAAAA		KLHL22	ENSG00000099910.17	transcript	ENST00000328879.9	protein_coding	2/6						chr22	TogoVar
KLHL23_chr2_169728832_169756878	169747389	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0038 a0001c0001t0006g0038	1	400	0.0025	27	c.136 others(46): Show c.1367-2014_1367-2013insAAAAAAAAAAAAAAAAAAAAAAAAAA A		KLHL23	ENSG00000213160.10	transcript	ENST00000392647.7	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr2	TogoVar

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