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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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
KCNIP4_chr4_20723606_21953772	20766728	TCTAGGAC others(41): Show TCTAGGACTAAGCTTTGATACTGCAAATGTCTTCGTGTCCATACAATAG	T T	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0057 a0001c0001t0009g0057	1	80	0.0125	-48	c.289 others(65): Show c.289-7886_289-7839delCTATTGTATGGACACGAAGACATTTGCA GTATCAAAGCTTAGTCCTAG		KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	3/8						chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21528740	AAAGAAAG others(41): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGAAAGG	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03098.hp2 HG02630.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0015 a0001c0002t0001 a0001c0001t0015 a0001c0002t0001	a0001c0001t0015g0023 a0001c0002t0001g0055 a0001c0001t0015g0023 a0001c0002t0001g0055	2	80	0.0250	-48	c.61+ others(67): Show c.61+419783_61+419830delCCTTTCTTCCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTT		KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8						chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21528760	AAAGAAAG others(41): Show AAAGAAAGAAAGAAAGAAAGGAAGAAAGGAAGAAAGGAAGAAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	1	80	0.0125	-48	c.61+ others(67): Show c.61+419763_61+419810delCCTTCCTTTCTTCCTTTCTTCCTTTC TTCCTTTCTTTCTTTCTTTCTT		KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8						chr4	TogoVar
KCNK10_chr14_88175108_88328269	88310157	CATATACC others(41): Show CATATACCATATCATATGGTATATGATATACCATATCATATGGTATATG	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01099.hp2 HG02258.hp1 others(6): Show HG01069.hp1 HG01099.hp2 HG02258.hp1 HG02895.hp1 HG02897.hp1 HG02970.hp2 HG03017.hp1 HG03704.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0002c0004	a0001c0001t0002 a0001c0001t0028 a0001c0001t0055 others(4): Show a0001c0001t0002 a0001c0001t0028 a0001c0001t0055 a0001c0002t0021 a0001c0005t0001 a0001c0005t0008 a0002c0004t0058	a0001c0001t0002g0039 a0001c0001t0002g0044 a0001c0001t0002g0045 others(6): Show a0001c0001t0002g0039 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0028g0037 a0001c0001t0055g0041 a0001c0002t0021g0042 a0001c0005t0001g0046 a0001c0005t0008g0040 a0002c0004t0058g0043	9	334	0.0270	-48	c.52+ others(65): Show c.52+12542_52+12589delCATATACCATATGATATGGTATATCATA TACCATATGATATGGTATAT		KCNK10	ENSG00000100433.16	transcript	ENST00000319231.10	protein_coding	1/6						chr14	TogoVar
KCNQ5_chr6_72617064_73203853	72941666	CTCTTTCT others(41): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02559.hp2 HG02970.hp2 others(3): Show HG02109.hp2 HG02559.hp2 HG02970.hp2 HG03041.hp2 HG03516.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0005 a0001c0001t0022 others(2): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0022 a0001c0001t0029 a0001c0002t0013	a0001c0001t0002g0006 a0001c0001t0005g0073 a0001c0001t0022g0075 others(3): Show a0001c0001t0002g0006 a0001c0001t0005g0073 a0001c0001t0022g0075 a0001c0001t0029g0046 a0001c0002t0013g0042 a0001c0002t0013g0043	6	80	0.0750	-48	c.399 others(67): Show c.399-62204_399-62157delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTT		KCNQ5	ENSG00000185760.18	transcript	ENST00000370398.6	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr6	TogoVar
KCNT2_chr1_196220779_196613440	196578164	GAAACCTG others(41): Show GAAACCTGCAGTCTTACCACACTCCATAGTTAGGAAAAAAAACAATCCC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp2 others(83): Show HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01891.hp2 HG01981.hp1 HG01981.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02965.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03669.hp2 HG03834.hp1 HG04115.hp2 HG04199.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp2 NA18984.hp1 NA18984.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA19009.hp1 NA19009.hp2 NA19062.hp1 NA19062.hp2 NA20129.hp2 NA20300.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0002c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0002t0001 a0001c0005t0001 a0001c0006t0001 a0002c0008t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 others(83): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0002g0007 a0001c0001t0002g0026 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0076 a0001c0001t0003g0035 a0001c0001t0003g0082 a0001c0001t0006g0001 a0001c0001t0009g0038 a0001c0001t0011g0066 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0005t0001g0014 a0001c0005t0001g0015 a0001c0005t0001g0016 a0001c0006t0001g0061 a0001c0006t0001g0067 a0002c0008t0001g0020	86	136	0.6324	-48	c.95+ others(65): Show c.95+30003_95+30050delGGGATTGTTTTTTTTCCTAACTATGGAG TGTGGTAAGACTGCAGGTTT		KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	1/27						chr1	TogoVar
KCNV2_chr9_2712510_2735037	2722150	GTTATTTA others(41): Show GTTATTTATAAATAAATTAGAAGTTATTTATAAATAAAATAGAAGTTAT	G G	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG04184.hp2 NA18995.hp2 HG02280.hp2 HG04184.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0002 a0001c0003t0001 a0001c0001t0001 a0001c0002t0002 a0001c0003t0001	a0001c0001t0001g0115 a0001c0002t0002g0086 a0001c0003t0001g0114 a0001c0001t0001g0115 a0001c0002t0002g0086 a0001c0003t0001g0114	3	442	0.0068	-48	c.135 others(67): Show c.1356+3086_1356+3133delAAATAAAATAGAAGTTATTTATTTAT AAATAAATTAGAAGTTATTTAT		KCNV2	ENSG00000168263.9	transcript	ENST00000382082.4	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr9	TogoVar
KCTD16_chr5_144165873_144490686	144299078	GTATATAT others(41): Show GTATATATATATCACTATGTATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0098 a0001c0002t0005g0098	1	156	0.0064	-48	c.832 others(67): Show c.832+91544_832+91591delCACTATGTATATATATATATATATAT ATATATATATATATATATATAT		KCTD16	ENSG00000183775.11	transcript	ENST00000512467.6	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr5	TogoVar
KCTD3_chr1_215562304_215626807	215623237	ACAATTGG others(41): Show ACAATTGGTAAAATGTGAGTCAGGAGATTTAAATTTAAAGAGGTTCATC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	314	0.0032	-48	c.26 others(59): Show c.2620_*2667delCAATTGGTAAAATGTGAGTCAGGAGATTTAAATT TAAAGAGGTTCATC		KCTD3	ENSG00000136636.13	transcript	ENST00000259154.9	protein_coding					1431		chr1	TogoVar
KDM5C_chrX_53187158_53230207	53216834	AAAGATAC others(41): Show AAAGATACAGGTATAAAGAGAAAGAAGAGTTCTACTTCTATGAGCAGAG	A A	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0001 a0006c0011t0001	a0006c0011t0001g0013 a0006c0011t0001g0013	1	241	0.0042	-48	c.657 others(63): Show c.657+261_657+308delCTCTGCTCATAGAAGTAGAACTCTTCTTTC TCTTTATACCTGTATCTT		KDM5C	ENSG00000126012.13	transcript	ENST00000375401.8	protein_coding	5/25						chrX	TogoVar
KDM7A_chr7_140079746_140181983	140100663	TATATATA others(41): Show TATATATATATATATATACATATATACATATATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02647.hp2 HG02922.hp1 others(2): Show HG02572.hp1 HG02647.hp2 HG02922.hp1 HG03041.hp2 HG03139.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0005 a0002c0002t0014 a0001c0001t0001 a0002c0002t0005 a0002c0002t0014	a0001c0001t0001g0046 a0002c0002t0005g0208 a0002c0002t0005g0209 others(2): Show a0001c0001t0001g0046 a0002c0002t0005g0208 a0002c0002t0005g0209 a0002c0002t0005g0210 a0002c0002t0014g0019	5	344	0.0145	-48	c.163 others(65): Show c.1639-688_1639-641delGTGTATATATATATATATATATGTATAT ATGTATATATATATATATAT		KDM7A	ENSG00000006459.11	transcript	ENST00000397560.7	protein_coding	12/19						chr7	TogoVar
KDM7A_chr7_140079746_140181983	140100695	TATATATA others(41): Show TATATATATATATACACATATATATATATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18963.hp2 NA18993.hp2 others(1): Show NA18954.hp1 NA18963.hp2 NA18993.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0025 a0002c0002t0011 a0001c0001t0001 a0001c0001t0025 a0002c0002t0011	a0001c0001t0001g0057 a0001c0001t0001g0096 a0001c0001t0025g0106 others(1): Show a0001c0001t0001g0057 a0001c0001t0001g0096 a0001c0001t0025g0106 a0002c0002t0011g0276	4	344	0.0116	-48	c.163 others(65): Show c.1639-720_1639-673delGTATATATATATATATATATATATATAT ATATGTGTATATATATATAT		KDM7A	ENSG00000006459.11	transcript	ENST00000397560.7	protein_coding	12/19						chr7	TogoVar
KHSRP_chr19_6408102_6429811	6429108	TAATATAT others(41): Show TAATATATATATTATATATATGTTATATATATATATAATATATATATTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02280.hp2 HG02622.hp2 others(1): Show HG01891.hp1 HG02280.hp2 HG02622.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0017 a0001c0001t0010 a0001c0001t0017	a0001c0001t0010g0176 a0001c0001t0017g0025 a0001c0001t0010g0176 a0001c0001t0017g0025	4	386	0.0104	-48	c.-44 others(59): Show c.-4455_-4408delTAATATATATATTATATATATATATAACATATAT ATAATATATATATT		KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding					4298		chr19	TogoVar
KIAA0825_chr5_94145851_94623604	94173142	TCTGTTAC others(41): Show TCTGTTACCAGGGCAAATACCATAGGAAACTAGGGAGTGAGAAAAGATG	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 NA18906.hp1 HG00741.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0050 a0001c0001t0038 a0001c0001t0050	a0001c0001t0038g0004 a0001c0001t0050g0042 a0001c0001t0038g0004 a0001c0001t0050g0042	2	54	0.0370	-48	c.371 others(69): Show c.3711-19066_3711-19019delCATCTTTTCTCACTCCCTAGTTTC CTATGGTATTTGCCCTGGTAACAG		KIAA0825	ENSG00000185261.16	transcript	ENST00000682413.1	protein_coding	20/20						chr5	TogoVar
KIAA1210_chrX_119073635_119132812	119073870	TGCAGAAG others(41): Show TGCAGAAGAGCCCGCAGAGGAGGCCTCAGAGAAGCCCACAGAGGAGGCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02886.hp1 HG03139.hp1 others(8): Show HG01891.hp2 HG02886.hp1 HG03139.hp1 HG03209.hp1 HG03486.hp1 HG03516.hp2 NA18906.hp2 NA18946.hp1 NA18969.hp2 NA18991.hp2 NA19085.hp1	a0001 a0002 a0013 others(3): Show a0001 a0002 a0013 a0016 a0018 a0023	a0001c0001 a0002c0002 a0013c0009 others(3): Show a0001c0001 a0002c0002 a0013c0009 a0016c0027 a0018c0025 a0023c0019	a0001c0001t0014 a0002c0002t0002 a0002c0002t0013 others(5): Show a0001c0001t0014 a0002c0002t0002 a0002c0002t0013 a0002c0002t0024 a0013c0009t0022 a0016c0027t0035 a0018c0025t0027 a0023c0019t0025	a0001c0001t0014g0024 a0001c0001t0014g0030 a0002c0002t0002g0209 others(8): Show a0001c0001t0014g0024 a0001c0001t0014g0030 a0002c0002t0002g0209 a0002c0002t0002g0210 a0002c0002t0002g0229 a0002c0002t0013g0201 a0002c0002t0024g0127 a0013c0009t0022g0149 a0016c0027t0035g0038 a0018c0025t0027g0239 a0023c0019t0025g0029	11	261	0.0422	-48	c.74 others(59): Show c.7411_*7458delGGCCTCCTCTGTGGGCTTCTCTGAGGCCTCCTCT GCGGGCTCTTCTGC		KIAA1210	ENSG00000250423.3	transcript	ENST00000691062.1	protein_coding					4764		chrX	TogoVar
KIAA1549L_chr11_33371108_33679102	33641572	GTATATAT others(41): Show GTATATATATATATATATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0017 a0001c0005t0017	a0001c0005t0017g0031 a0001c0005t0017g0031	1	226	0.0044	-48	c.541 others(67): Show c.5410-4099_5410-4052delTATATATATATATATATATATATATA TATATATATATATATATATATA		KIAA1549L	ENSG00000110427.17	transcript	ENST00000658780.2	protein_coding	16/20					INFO_REALIGN_3_PRIME	chr11	TogoVar
KIF1B_chr1_10205570_10386603	10372661	GAGCTGTC others(41): Show GAGCTGTCACCCAAGCTGGCGCGCAGCGGCGCAATCTCGGCTCACTGCA	G G	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0057 a0001c0020t0057	a0001c0020t0057g0192 a0001c0020t0057g0192	1	300	0.0033	-48	c.494 others(67): Show c.4946+1404_4946+1451delGTCACCCAAGCTGGCGCGCAGCGGCG CAATCTCGGCTCACTGCAAGCT		KIF1B	ENSG00000054523.20	transcript	ENST00000676179.1	protein_coding	45/48					INFO_REALIGN_3_PRIME	chr1	TogoVar
KIF26B_chr1_245149985_245714432	245556213	TCCTCCTC others(41): Show TCCTCCTCCTCCTCTTCTTCTTCTTCTTCCTCCTTCTTCCTCCTTCCTC	T T	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0003 a0003	a0003c0060 a0003c0060	a0003c0060t0007 a0003c0060t0007	a0003c0060t0007g0037 a0003c0060t0007g0037	1	160	0.0063	-48	c.135 others(69): Show c.1350+15289_1350+15336delTTCCTCCTTCTTCCTCCTTCCTCC CTCCTCCTCCTCTTCTTCTTCTTC		KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	5/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
KIF4A_chrX_70285104_70425886	70371653	GCTGACCC others(41): Show GCTGACCCCCCTACCTCCCTCCCGGACGGGACGGCTGGCCGGGCGGGGC	G G	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18962.hp1 NA18983.hp1 others(1): Show NA18947.hp2 NA18962.hp1 NA18983.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 others(1): Show a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091	4	259	0.0154	-48	c.167 others(67): Show c.1675-2487_1675-2440delTACCTCCCTCCCGGACGGGACGGCTG GCCGGGCGGGGCCTGACCCCCC		KIF4A	ENSG00000090889.12	transcript	ENST00000374403.4	protein_coding	15/30					INFO_REALIGN_3_PRIME	chrX	TogoVar
KIRREL3_chr11_126418358_127005770	126473030	CCTCTACC others(41): Show CCTCTACCTAACCCCCCCAGCCCCTCTCCCCAGCCCCCACCATCCTCTT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 NA19030.hp2 HG01891.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0012 a0001c0002t0025 a0001c0001t0012 a0001c0002t0025	a0001c0001t0012g0008 a0001c0002t0025g0007 a0001c0001t0012g0008 a0001c0002t0025g0007	2	114	0.0175	-48	c.591 others(63): Show c.591+231_591+278delAAGAGGATGGTGGGGGCTGGGGAGAGGGGC TGGGGGGGTTAGGTAGAG		KIRREL3	ENSG00000149571.12	transcript	ENST00000525144.7	protein_coding	5/16						chr11	TogoVar
KLHDC7B_chr22_50540899_50556023	50547999	GCCCCAAC others(41): Show GCCCCAACCCCAGCCGCATCCCCTGCCCCAGCCCCCACCTCAGCCCCAA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00408.hp2 HG00597.hp2 HG00673.hp2 others(80): Show HG00408.hp2 HG00597.hp2 HG00673.hp2 HG01074.hp1 HG01192.hp1 HG01243.hp1 HG02004.hp2 HG02055.hp1 HG02071.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp1 HG02258.hp2 HG02622.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02735.hp1 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG03139.hp1 HG03209.hp2 HG03453.hp1 HG03579.hp1 HG03704.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp1 HG04199.hp1 HG04228.hp1 HG06807.hp2 NA18747.hp1 NA18906.hp2 NA18939.hp1 NA18941.hp1 NA18946.hp1 NA18947.hp2 NA18951.hp1 NA18954.hp1 NA18955.hp2 NA18959.hp2 NA18962.hp1 NA18963.hp1 NA18964.hp1 NA18968.hp1 NA18979.hp1 NA18982.hp1 NA18986.hp1 NA18987.hp2 NA18988.hp1 NA18989.hp1 NA18992.hp1 NA18994.hp2 NA18995.hp1 NA19000.hp2 NA19003.hp1 NA19006.hp1 NA19011.hp2 NA19054.hp1 NA19055.hp2 NA19056.hp2 NA19058.hp1 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19068.hp2 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19087.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0002 a0009 a0012 others(11): Show a0002 a0009 a0012 a0015 a0016 a0023 a0026 a0029 a0030 a0042 a0043 a0044 a0045 a0046	a0002c0002 a0002c0040 a0002c0044 others(15): Show a0002c0002 a0002c0040 a0002c0044 a0009c0011 a0012c0013 a0012c0052 a0015c0022 a0016c0018 a0023c0045 a0023c0046 a0026c0057 a0029c0058 a0030c0077 a0042c0053 a0043c0042 a0044c0043 a0045c0047 a0046c0048	a0002c0002t0002 a0002c0002t0003 a0002c0002t0011 others(19): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0011 a0002c0002t0023 a0002c0040t0002 a0002c0044t0002 a0009c0011t0003 a0009c0011t0025 a0012c0013t0003 a0012c0052t0003 a0015c0022t0008 a0016c0018t0013 a0023c0045t0002 a0023c0046t0006 a0026c0057t0003 a0029c0058t0006 a0030c0077t0008 a0042c0053t0003 a0043c0042t0006 a0044c0043t0022 a0045c0047t0002 a0046c0048t0002	a0002c0002t0002g0000 a0002c0002t0003g0000 a0002c0002t0011g0000 others(19): Show a0002c0002t0002g0000 a0002c0002t0003g0000 a0002c0002t0011g0000 a0002c0002t0023g0000 a0002c0040t0002g0000 a0002c0044t0002g0000 a0009c0011t0003g0000 a0009c0011t0025g0000 a0012c0013t0003g0000 a0012c0052t0003g0000 a0015c0022t0008g0000 a0016c0018t0013g0000 a0023c0045t0002g0000 a0023c0046t0006g0000 a0026c0057t0003g0000 a0029c0058t0006g0000 a0030c0077t0008g0000 a0042c0053t0003g0000 a0043c0042t0006g0000 a0044c0043t0022g0000 a0045c0047t0002g0000 a0046c0048t0002g0000	83	432	0.1921	-48	c.178 others(57): Show c.1788_1835delCCCCACCTCAGCCCCAACCCCAACCCCAGCCGCATC CCCTGCCCCAGC	p.Pro others(13): Show p.Pro597_Ala612del	KLHDC7B	ENSG00000130487.9	transcript	ENST00000648057.3	protein_coding	1/1	2133/5125	1788/3708	596/1235		INFO_REALIGN_3_PRIME	chr22	TogoVar
KLHL30_chr2_238133668_238157947	238144369	CGGAAGGA others(41): Show CGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	C C	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	450	0.0022	-48	c.908 others(63): Show c.908-514_908-467delAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGG		KLHL30	ENSG00000168427.9	transcript	ENST00000409223.2	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr2	TogoVar
KLHL30_chr2_238133668_238157947	238144388	AAGGAAGG others(41): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGC	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02976.hp2 HG02280.hp1 HG02976.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0005c0010 a0002c0002 a0005c0010	a0002c0002t0007 a0005c0010t0006 a0002c0002t0007 a0005c0010t0006	a0002c0002t0007g0362 a0005c0010t0006g0361 a0002c0002t0007g0362 a0005c0010t0006g0361	2	450	0.0044	-48	c.908 others(63): Show c.908-510_908-463delAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGCAGG		KLHL30	ENSG00000168427.9	transcript	ENST00000409223.2	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr2	TogoVar
KLHL30_chr2_238133668_238157947	238144392	AAGGAAGG others(41): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGCAGGC	A A	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0250 a0002c0002t0006g0250	1	450	0.0022	-48	c.908 others(63): Show c.908-506_908-459delAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGCAGGCAGG		KLHL30	ENSG00000168427.9	transcript	ENST00000409223.2	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr2	TogoVar
KLHL30_chr2_238133668_238157947	238144404	AAGGAAGG others(41): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGCAGGCAGGCAGGCAGGC	A A	intron_variant intron_variant	MODIFIER	HG03834.hp2 NA18995.hp2 HG03834.hp2 NA18995.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0004 a0003c0005t0003 a0001c0001t0004 a0003c0005t0003	a0001c0001t0004g0146 a0003c0005t0003g0291 a0001c0001t0004g0146 a0003c0005t0003g0291	2	450	0.0044	-48	c.908 others(63): Show c.908-494_908-447delAAGGAAGGAAGGAAGGAAGGAAGGAAGGCA GGCAGGCAGGCAGGCAGG		KLHL30	ENSG00000168427.9	transcript	ENST00000409223.2	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr2	TogoVar
KLHL30_chr2_238133668_238157947	238144408	AAGGAAGG others(41): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGCAGGCAGGCAGGCAGGCAGGC	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03041.hp1 HG03471.hp2 others(1): Show HG02145.hp1 HG03041.hp1 HG03471.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0003 a0001c0001t0005g0003 a0001c0001t0001g0003 a0001c0001t0005g0003	4	450	0.0089	-48	c.908 others(63): Show c.908-490_908-443delAAGGAAGGAAGGAAGGAAGGAAGGCAGGCA GGCAGGCAGGCAGGCAGG		KLHL30	ENSG00000168427.9	transcript	ENST00000409223.2	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr2	TogoVar
KLHL41_chr2_169504702_169531258	169505978	CAGCCGCC others(41): Show CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGATCAGCCCCCCGCCCGGCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01070.hp2 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0272 a0001c0001t0006g0273 a0001c0001t0006g0272 a0001c0001t0006g0273	2	422	0.0047	-48	c.-38 others(59): Show c.-3800_-3753delAGCCGCCCCGTCCGGGAGGGAGGTGGGGGATCAG CCCCCCGCCCGGCT		KLHL41	ENSG00000239474.7	transcript	ENST00000284669.2	protein_coding					3723		chr2	TogoVar
KLRB1_chr12_9589551_9612916	9606704	TATAAAAT others(41): Show TATAAAATATATAAAATATATGTATAAAAAGTATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0157 a0002c0002t0001g0157	1	436	0.0023	-48	c.85+ others(63): Show c.85+1003_85+1050delTATATATATATATATATACTTTTTATACAT ATATTTTATATATTTTAT		KLRB1	ENSG00000111796.4	transcript	ENST00000229402.4	protein_coding	1/5						chr12	TogoVar
KLRB1_chr12_9589551_9612916	9606706	TAAAATAT others(41): Show TAAAATATATAAAATATATGTATAAAAAGTATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00609.hp1 HG00673.hp1 others(10): Show HG00544.hp1 HG00609.hp1 HG00673.hp1 HG02071.hp2 HG02155.hp1 NA18612.hp1 NA18943.hp2 NA18960.hp1 NA18977.hp1 NA18995.hp2 NA19007.hp1 NA19072.hp2 NA19084.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0007 a0002c0002t0001g0102 a0002c0002t0001g0138 others(8): Show a0002c0002t0001g0007 a0002c0002t0001g0102 a0002c0002t0001g0138 a0002c0002t0001g0142 a0002c0002t0001g0158 a0002c0002t0001g0160 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0171 a0002c0002t0001g0176 a0002c0002t0001g0178	13	436	0.0298	-48	c.85+ others(63): Show c.85+1001_85+1048delTATATATATATATATATATACTTTTTATAC ATATATTTTATATATTTT		KLRB1	ENSG00000111796.4	transcript	ENST00000229402.4	protein_coding	1/5						chr12	TogoVar
KLRB1_chr12_9589551_9612916	9606707	AAAATATA others(41): Show AAAATATATAAAATATATGTATAAAAAGTATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02080.hp2 NA19079.hp1 HG02015.hp2 HG02080.hp2 NA19079.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0105 a0002c0002t0001g0141 a0002c0002t0001g0361 a0002c0002t0001g0105 a0002c0002t0001g0141 a0002c0002t0001g0361	3	436	0.0069	-48	c.85+ others(63): Show c.85+1000_85+1047delATATATATATATATATATATACTTTTTATA CATATATTTTATATATTT		KLRB1	ENSG00000111796.4	transcript	ENST00000229402.4	protein_coding	1/5						chr12	TogoVar
KMT2C_chr7_152129925_152441003	152307230	GAAGGAAG others(41): Show GAAGGAAGGAAGGAAGGAAGGACGGTAGGAAGGAAGGAAGGAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 NA18906.hp1 HG02109.hp2 NA18906.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0002 a0002c0007t0008 a0002c0007t0002 a0002c0007t0008	a0002c0007t0002g0017 a0002c0007t0008g0021 a0002c0007t0002g0017 a0002c0007t0008g0021	2	172	0.0116	-48	c.849 others(65): Show c.849+2688_849+2735delTCTTTCTTCCTTCCTTCCTTCCTACCGT CCTTCCTTCCTTCCTTCCTT		KMT2C	ENSG00000055609.21	transcript	ENST00000262189.11	protein_coding	6/58						chr7	TogoVar
KMT5C_chr19_55334876_55353121	55338515	TCTCTCTC others(41): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCACACACACACA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG01106.hp2 HG01256.hp2 others(5): Show HG00735.hp2 HG01106.hp2 HG01256.hp2 HG02109.hp1 HG02165.hp2 HG02683.hp1 HG02922.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0002 a0001c0002t0002 a0001c0005t0001 a0001c0001t0002 a0001c0002t0002 a0001c0005t0001	a0001c0001t0002g0007 a0001c0002t0002g0040 a0001c0002t0002g0111 others(3): Show a0001c0001t0002g0007 a0001c0002t0002g0040 a0001c0002t0002g0111 a0001c0005t0001g0027 a0001c0005t0001g0048 a0001c0005t0001g0049	8	406	0.0197	-48	c.-15 others(59): Show c.-1585_-1538delCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCACACACACACA		KMT5C	ENSG00000133247.14	transcript	ENST00000255613.8	protein_coding					1360		chr19	TogoVar
KNDC1_chr10_133155219_133231412	133222444	GGCGTGTG others(41): Show GGCGTGTGTGTGTGTGTGTGAGAGCCCATCCAGGCATGCTCTTCCCGGT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp1 HG00438.hp2 others(131): Show HG00323.hp1 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00609.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01109.hp2 HG01168.hp2 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02071.hp1 HG02080.hp1 HG02083.hp1 HG02132.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02280.hp1 HG02451.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02622.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG03041.hp2 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18747.hp2 NA18943.hp2 NA18945.hp2 NA18946.hp2 NA18948.hp1 NA18954.hp1 NA18957.hp1 NA18957.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18987.hp2 NA18995.hp1 NA18999.hp2 NA19003.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19056.hp1 NA19066.hp2 NA19067.hp1 NA19070.hp2 NA19079.hp2 NA19081.hp1 NA19086.hp1 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(15): Show a0001 a0002 a0003 a0004 a0005 a0007 a0009 a0011 a0013 a0014 a0016 a0017 a0022 a0024 a0025 a0026 a0027 a0029	a0001c0001 a0001c0068 a0002c0002 others(31): Show a0001c0001 a0001c0068 a0002c0002 a0002c0005 a0002c0006 a0002c0022 a0002c0041 a0002c0058 a0002c0061 a0003c0015 a0003c0032 a0004c0007 a0004c0024 a0004c0028 a0004c0063 a0005c0012 a0005c0021 a0005c0048 a0005c0065 a0007c0009 a0009c0013 a0011c0051 a0013c0023 a0013c0060 a0014c0066 a0014c0067 a0016c0029 a0017c0057 a0022c0030 a0024c0059 a0025c0062 a0026c0042 a0027c0046 a0029c0069	a0001c0001t0002 a0001c0068t0002 a0002c0002t0002 others(38): Show a0001c0001t0002 a0001c0068t0002 a0002c0002t0002 a0002c0002t0014 a0002c0002t0015 a0002c0002t0017 a0002c0002t0018 a0002c0002t0025 a0002c0005t0002 a0002c0005t0024 a0002c0006t0004 a0002c0006t0010 a0002c0022t0002 a0002c0041t0004 a0002c0058t0002 a0002c0061t0002 a0003c0015t0002 a0003c0032t0010 a0004c0007t0002 a0004c0024t0004 a0004c0028t0002 a0004c0063t0002 a0005c0012t0002 a0005c0021t0004 a0005c0048t0002 a0005c0065t0002 a0007c0009t0002 a0009c0013t0002 a0011c0051t0002 a0013c0023t0004 a0013c0060t0002 a0014c0066t0002 a0014c0067t0002 a0016c0029t0002 a0017c0057t0002 a0022c0030t0010 a0024c0059t0002 a0025c0062t0002 a0026c0042t0004 a0027c0046t0002 a0029c0069t0002	a0001c0001t0002g0081 a0001c0001t0002g0193 a0001c0001t0002g0205 others(129): Show a0001c0001t0002g0081 a0001c0001t0002g0193 a0001c0001t0002g0205 a0001c0068t0002g0114 a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0008 a0002c0002t0002g0016 a0002c0002t0002g0036 a0002c0002t0002g0043 a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0049 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0075 a0002c0002t0002g0087 a0002c0002t0002g0089 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0106 a0002c0002t0002g0115 a0002c0002t0002g0120 a0002c0002t0002g0121 a0002c0002t0002g0128 a0002c0002t0002g0146 a0002c0002t0002g0147 a0002c0002t0002g0166 a0002c0002t0002g0171 a0002c0002t0002g0172 a0002c0002t0002g0180 a0002c0002t0002g0181 a0002c0002t0002g0182 a0002c0002t0002g0212 a0002c0002t0002g0213 a0002c0002t0002g0215 a0002c0002t0002g0217 a0002c0002t0002g0218 a0002c0002t0002g0219 a0002c0002t0002g0220 a0002c0002t0002g0250 a0002c0002t0002g0255 a0002c0002t0014g0145 a0002c0002t0015g0148 a0002c0002t0017g0090 a0002c0002t0018g0037 a0002c0002t0025g0028 a0002c0005t0002g0025 a0002c0005t0002g0070 a0002c0005t0002g0084 a0002c0005t0002g0085 a0002c0005t0002g0103 a0002c0005t0002g0110 a0002c0005t0002g0116 a0002c0005t0002g0159 a0002c0005t0002g0160 a0002c0005t0002g0161 a0002c0005t0002g0214 a0002c0005t0002g0216 a0002c0005t0002g0226 a0002c0005t0024g0095 a0002c0006t0004g0280 a0002c0006t0004g0282 a0002c0006t0004g0287 a0002c0006t0004g0288 a0002c0006t0004g0292 a0002c0006t0004g0293 a0002c0006t0004g0294 a0002c0006t0004g0295 a0002c0006t0004g0298 a0002c0006t0004g0311 a0002c0006t0010g0315 a0002c0022t0002g0096 a0002c0041t0004g0274 a0002c0058t0002g0003 a0002c0061t0002g0061 a0003c0015t0002g0237 a0003c0032t0010g0308 a0004c0007t0002g0053 a0004c0007t0002g0054 a0004c0007t0002g0063 a0004c0007t0002g0067 a0004c0007t0002g0068 a0004c0007t0002g0077 a0004c0007t0002g0078 a0004c0007t0002g0179 a0004c0024t0004g0010 a0004c0028t0002g0134 a0004c0028t0002g0137 a0004c0063t0002g0027 a0005c0012t0002g0026 a0005c0012t0002g0030 a0005c0012t0002g0031 a0005c0012t0002g0051 a0005c0012t0002g0156 a0005c0012t0002g0251 a0005c0012t0002g0254 a0005c0021t0004g0286 a0005c0021t0004g0289 a0005c0048t0002g0173 a0005c0065t0002g0040 a0007c0009t0002g0131 a0009c0013t0002g0229 a0009c0013t0002g0230 a0009c0013t0002g0231 a0009c0013t0002g0232 a0009c0013t0002g0233 a0009c0013t0002g0234 a0009c0013t0002g0235 a0011c0051t0002g0024 a0013c0023t0004g0305 a0013c0060t0002g0086 a0014c0066t0002g0111 a0014c0067t0002g0015 a0016c0029t0002g0150 a0017c0057t0002g0074 a0022c0030t0010g0309 a0024c0059t0002g0008 a0025c0062t0002g0042 a0026c0042t0004g0281 a0027c0046t0002g0098 a0029c0069t0002g0170	134	332	0.4036	-48	c.501 others(67): Show c.5019-2213_5019-2166delCGTGTGTGTGTGTGTGTGAGAGCCCA TCCAGGCATGCTCTTCCCGGTG		KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	29/29					INFO_REALIGN_3_PRIME	chr10	TogoVar
KRT82_chr12_52388931_52411335	52409920	CCCCGTCC others(41): Show CCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0032 a0004c0004t0001g0032	1	370	0.0027	-48	c.-36 others(59): Show c.-3691_-3644delCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCT CCCTCCCGGACGGG		KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding					3586		chr12	TogoVar
KRT82_chr12_52388931_52411335	52409939	GGGGGGGT others(41): Show GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00438.hp1 others(91): Show HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG01070.hp1 HG01168.hp2 HG01255.hp2 HG01346.hp2 HG01361.hp2 HG01928.hp1 HG01978.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02135.hp2 HG02148.hp1 HG02257.hp2 HG02258.hp2 HG02486.hp1 HG02523.hp1 HG02572.hp1 HG02723.hp2 HG02970.hp2 HG03017.hp2 HG03041.hp1 HG03195.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03516.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04204.hp2 NA18940.hp2 NA18948.hp1 NA18948.hp2 NA18953.hp1 NA18953.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18973.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18993.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19030.hp1 NA19043.hp2 NA19054.hp2 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19062.hp1 NA19062.hp2 NA19066.hp2 NA19067.hp1 NA19068.hp2 NA19074.hp2 NA19082.hp2 NA19085.hp1 NA19088.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0015	a0001c0001 a0001c0013 a0002c0002 others(2): Show a0001c0001 a0001c0013 a0002c0002 a0003c0003 a0015c0011	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0016 a0001c0013t0003 a0002c0002t0001 a0003c0003t0007 a0015c0011t0005	a0001c0001t0002g0007 a0001c0001t0002g0022 a0001c0001t0002g0062 others(20): Show a0001c0001t0002g0007 a0001c0001t0002g0022 a0001c0001t0002g0062 a0001c0001t0002g0067 a0001c0001t0002g0069 a0001c0001t0003g0002 a0001c0001t0003g0046 a0001c0001t0003g0048 a0001c0001t0003g0050 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0005g0005 a0001c0001t0005g0047 a0001c0001t0016g0052 a0001c0013t0003g0051 a0002c0002t0001g0003 a0002c0002t0001g0056 a0003c0003t0007g0019 a0015c0011t0005g0049	94	370	0.2541	-48	c.-37 others(59): Show c.-3710_-3663delACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCC		KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding					3605		chr12	TogoVar
KRTAP9-3_chr17_41227449_41238454	41235847	GGAAGGAA others(41): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 HG03710.hp1 HG03710.hp2 HG02071.hp1 HG03710.hp1 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	439	0.0068	-48	c.28 others(59): Show c.2867_*2914delGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAA		KRTAP9-3	ENSG00000204873.5	transcript	ENST00000411528.4	protein_coding					2394		chr17	TogoVar
KRTAP9-8_chr17_41232999_41244004	41235847	GGAAGGAA others(41): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp1 HG03710.hp1 HG03710.hp2 HG02071.hp1 HG03710.hp1 HG03710.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0000 a0003c0003t0001g0000 a0001c0001t0001g0000 a0003c0003t0001g0000	3	435	0.0069	-48	c.-22 others(59): Show c.-2204_-2157delGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAA		KRTAP9-8	ENSG00000187272.7	transcript	ENST00000254072.7	protein_coding					2151		chr17	TogoVar
KRTAP9-8_chr17_41232999_41244004	41243267	AAACTAGA others(41): Show AAACTAGAAAATCTTGAAGAAATGAATAAAGACTAAACCAGGAAGAAGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	1	435	0.0023	-48	c.47 others(59): Show c.4737_*4784delAACTAGAAAATCTTGAAGAAATGAATAAAGACTA AACCAGGAAGAAGC		KRTAP9-8	ENSG00000187272.7	transcript	ENST00000254072.7	protein_coding					4264		chr17	TogoVar
L3MBTL4_chr18_5949717_6419911	5958050	GAGAAGGA others(41): Show GAGAAGGAGAAGGAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0093 a0001c0001t0006g0093	1	94	0.0106	-48	c.167 others(67): Show c.1678-1711_1678-1664delTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTCCTTCTCCTTCT		L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	18/18						chr18	TogoVar
L3MBTL4_chr18_5949717_6419911	5958112	GAAGAAGA others(41): Show GAAGAAGAAGAAGAAGAAAAAGAAGAAGAAGAAGAAGAAGAAGAAGAAC	G G	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03209.hp2 HG03492.hp2 others(2): Show HG02970.hp1 HG03209.hp2 HG03492.hp2 HG06807.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0002 a0001c0001 a0001c0007 a0002c0002	a0001c0001t0005 a0001c0001t0007 a0001c0007t0002 others(1): Show a0001c0001t0005 a0001c0001t0007 a0001c0007t0002 a0002c0002t0001	a0001c0001t0005g0094 a0001c0001t0007g0043 a0001c0007t0002g0081 others(2): Show a0001c0001t0005g0094 a0001c0001t0007g0043 a0001c0007t0002g0081 a0002c0002t0001g0018 a0002c0002t0001g0061	5	94	0.0532	-48	c.167 others(67): Show c.1678-1773_1678-1726delGTTCTTCTTCTTCTTCTTCTTCTTCT TCTTTTTCTTCTTCTTCTTCTT		L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	18/18						chr18	TogoVar
LAMP1_chr13_113292239_113328672	113314519	TCAGTGTG others(41): Show TCAGTGTGGAGATGCCCGTGTGCCTGGGGCGTGGCCTCCTGGAGGGAAC	T T	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01891.hp2 others(15): Show HG01069.hp2 HG01071.hp2 HG01891.hp2 HG02055.hp1 HG02055.hp2 HG02559.hp1 HG02622.hp1 HG02809.hp2 HG02895.hp2 HG02922.hp1 HG02965.hp1 HG03098.hp1 HG03209.hp2 HG03225.hp1 HG03540.hp2 NA18522.hp1 NA20300.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0017 a0003c0003t0002 a0003c0003t0005 a0001c0001t0017 a0003c0003t0002 a0003c0003t0005	a0001c0001t0017g0321 a0003c0003t0002g0324 a0003c0003t0002g0332 others(14): Show a0001c0001t0017g0321 a0003c0003t0002g0324 a0003c0003t0002g0332 a0003c0003t0002g0333 a0003c0003t0002g0334 a0003c0003t0005g0017 a0003c0003t0005g0319 a0003c0003t0005g0320 a0003c0003t0005g0322 a0003c0003t0005g0323 a0003c0003t0005g0325 a0003c0003t0005g0326 a0003c0003t0005g0327 a0003c0003t0005g0328 a0003c0003t0005g0329 a0003c0003t0005g0330 a0003c0003t0005g0331	18	354	0.0509	-48	c.562 others(65): Show c.562+3666_562+3713delCCCGTGTGCCTGGGGCGTGGCCTCCTGG AGGGAACCAGTGTGGAGATG		LAMP1	ENSG00000185896.11	transcript	ENST00000332556.5	protein_coding	4/8					INFO_REALIGN_3_PRIME	chr13	TogoVar
LAMP1_chr13_113292239_113328672	113315196	TGGAGATG others(41): Show TGGAGATGCCCGTGTGCCTGGGGCGTGGCCTCCTGGAGGGAGCCAGTGC	T T	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0012 a0004c0004t0012	a0004c0004t0012g0052 a0004c0004t0012g0052	1	354	0.0028	-48	c.563 others(65): Show c.563-4263_563-4216delCGTGTGCCTGGGGCGTGGCCTCCTGGAG GGAGCCAGTGCGGAGATGCC		LAMP1	ENSG00000185896.11	transcript	ENST00000332556.5	protein_coding	4/8					INFO_REALIGN_3_PRIME	chr13	TogoVar
LARP1_chr5_154750377_154822605	154757824	GCTCCCCT others(41): Show GCTCCCCTTCCCCCCTGCTCCCCTTCCCCCCTGCTCCCCTTCCCCCCTC	G G	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0288 a0001c0001t0003g0288	1	304	0.0033	-48	c.436 others(65): Show c.436+1645_436+1692delCTGCTCCCCTTCCCCCCTGCTCCCCTTC CCCCCTCCTCCCCTTCCCCC		LARP1	ENSG00000155506.19	transcript	ENST00000518297.6	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr5	TogoVar
LASP1_chr17_38865058_38926770	38879261	TTCTTGTA others(41): Show TTCTTGTACCTAAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCTAC	T T	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0258 a0001c0002t0002g0258	1	396	0.0025	-48	c.164 others(65): Show c.164+1082_164+1129delTCTTGTACCTAAGCCTCCTGAGTAGCTG GGATTACAGATGCATGCTAC		LASP1	ENSG00000002834.19	transcript	ENST00000318008.11	protein_coding	2/6						chr17	TogoVar
LATS2_chr13_20968036_21066586	21007602	AGTGTGTA others(41): Show AGTGTGTATATATATATATAGTGTATATATATATATATATATAGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03225.hp1 HG02258.hp1 HG03225.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0008 a0003c0009t0032 a0003c0009t0008 a0003c0009t0032	a0003c0009t0008g0309 a0003c0009t0032g0289 a0003c0009t0008g0309 a0003c0009t0032g0289	2	316	0.0063	-48	c.343 others(67): Show c.343-16246_343-16199delACACACTATATATATATATATATATA CACTATATATATATATACACAC		LATS2	ENSG00000150457.9	transcript	ENST00000382592.5	protein_coding	2/7						chr13	TogoVar
LATS2_chr13_20968036_21066586	21022440	CCCTGACA others(41): Show CCCTGACATCTCACTTTTGTACTGCACGGTTAGAAGGTTCTTCCTGTAT	C C	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	316	0.0032	-48	c.342 others(67): Show c.342+23197_342+23244delATACAGGAAGAACCTTCTAACCGTGC AGTACAAAAGTGAGATGTCAGG		LATS2	ENSG00000150457.9	transcript	ENST00000382592.5	protein_coding	2/7						chr13	TogoVar
LBP_chr20_38341482_38382013	38378959	GGGGGGGT others(41): Show GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	394	0.0025	-48	c.22 others(59): Show c.2291_*2338delGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGT		LBP	ENSG00000129988.6	transcript	ENST00000217407.3	protein_coding					1947		chr20	TogoVar
LCN15_chr9_136754634_136769518	136755767	GGTGCAGG others(41): Show GGTGCAGGAAACAGCATGGGGAACAGTGCAGGGAACAGCATGGGGAACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG03471.hp1 HG02886.hp2 HG03471.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0020 a0001c0003t0001g0066 a0001c0003t0001g0020 a0001c0003t0001g0066	2	356	0.0056	-48	c.40 others(59): Show c.4001_*4048delTGTTCCCCATGCTGTTCCCTGCACTGTTCCCCAT GCTGTTTCCTGCAC		LCN15	ENSG00000177984.7	transcript	ENST00000316144.6	protein_coding					3866		chr9	TogoVar
LCN15_chr9_136754634_136769518	136769470	CCCCGACA others(41): Show CCCCGACACCCCGACACCCCCCATGCACTGCCCCCCCGCCACCCCGCCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	356	0.0028	-48	c.-50 others(59): Show c.-5030_-4983delTGGCGGGGTGGCGGGGGGGCAGTGCATGGGGGGT GTCGGGGTGTCGGG		LCN15	ENSG00000177984.7	transcript	ENST00000316144.6	protein_coding					4953		chr9	TogoVar
LCN8_chr9_136749386_136763243	136755767	GGTGCAGG others(41): Show GGTGCAGGAAACAGCATGGGGAACAGTGCAGGGAACAGCATGGGGAACA	G G	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03471.hp2 HG02886.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0016	2	368	0.0054	-48	c.227 others(63): Show c.227-299_227-252delTGTTCCCCATGCTGTTCCCTGCACTGTTCC CCATGCTGTTTCCTGCAC		LCN8	ENSG00000204001.10	transcript	ENST00000371688.8	protein_coding	3/6						chr9	TogoVar

Search by Variant

Search

Search Results (Total: 2076 hits)