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 per page.

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
KCNK13_chr14_90056994_90190853	90143171	C C	CTTTCTTT others(30): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00642.hp2 HG00741.hp1 others(5): Show HG00544.hp2 HG00642.hp2 HG00741.hp1 HG01257.hp1 HG01258.hp1 HG02040.hp2 HG03209.hp1 NA18522.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0003 a0003c0003t0001 a0001c0001t0001 a0001c0001t0003 a0003c0003t0001	a0001c0001t0001g0024 a0001c0001t0001g0043 a0001c0001t0001g0044 others(5): Show a0001c0001t0001g0024 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0147 a0001c0001t0001g0210 a0001c0001t0001g0237 a0001c0001t0003g0209 a0003c0003t0001g0190	8	320	0.0250	37	c.335 others(56): Show c.335-40933_335-40932insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTTCTTT	KCNK13	ENSG00000152315.5	transcript	ENST00000282146.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
KCNK2_chr1_215077737_215242090	215209743	T T	TAAAATAT others(30): Show TAAAATATATATTATATATAAAATATATATTATATATA	intron_variant intron_variant	MODIFIER	HG01123.hp2 NA18968.hp2 HG01123.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0036 a0001c0001t0027 a0001c0001t0036	a0001c0001t0027g0085 a0001c0001t0036g0240 a0001c0001t0027g0085 a0001c0001t0036g0240	2	260	0.0077	37	c.963 others(56): Show c.963+14654_963+14655insATATATATTATATATAAAATATATAT TATATATAAAA	KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNK2_chr1_215077737_215242090	215230559	C C	CATATATA others(30): Show CATATATATATATATATATATACACATAACAGCCATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01884.hp1 HG01891.hp1 HG01109.hp2 HG01884.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0037 a0001c0001t0067 a0001c0001t0024 a0001c0001t0037 a0001c0001t0067	a0001c0001t0024g0125 a0001c0001t0037g0134 a0001c0001t0067g0096 a0001c0001t0024g0125 a0001c0001t0037g0134 a0001c0001t0067g0096	3	260	0.0115	37	c.964 others(54): Show c.964-4252_964-4251insTATACACATAACAGCCATATATATATAT ATATATATA	KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNK2_chr1_215077737_215242090	215230559	C C	CATATATA others(30): Show CATATATATATATATATATATATACACATAACAGCCAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03486.hp2 HG02630.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0052 a0001c0001t0014 a0001c0001t0052	a0001c0001t0014g0130 a0001c0001t0052g0126 a0001c0001t0014g0130 a0001c0001t0052g0126	2	260	0.0077	37	c.964 others(54): Show c.964-4252_964-4251insTATATACACATAACAGCCATATATATAT ATATATATA	KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNMB1_chr5_170369671_170394367	170390517	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAAAAAAAATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	432	0.0023	37	c.-12 others(48): Show c.-1284_-1283insATATATATATATATATATATTTTTTTTTTTTTTT TTT	KCNMB1	ENSG00000145936.9	transcript	ENST00000274629.9	protein_coding		1151		chr5	TogoVar
KCNMB1_chr5_170369671_170394367	170390517	A A	AAAAAAAT others(30): Show AAAAAAATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0012 a0001c0001t0014g0012	1	432	0.0023	37	c.-12 others(48): Show c.-1284_-1283insATATATATATATATATATATATATATATATATTT TTT	KCNMB1	ENSG00000145936.9	transcript	ENST00000274629.9	protein_coding		1151		chr5	TogoVar
KCNMB1_chr5_170369671_170394367	170390517	A A	AAATATAT others(30): Show AAATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 NA20129.hp2 HG02055.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0079 a0001c0001t0001 a0001c0001t0079	a0001c0001t0001g0001 a0001c0001t0079g0171 a0001c0001t0001g0001 a0001c0001t0079g0171	2	432	0.0046	37	c.-12 others(48): Show c.-1284_-1283insATATATATATATATATATATATATATATATATAT ATT	KCNMB1	ENSG00000145936.9	transcript	ENST00000274629.9	protein_coding		1151		chr5	TogoVar
KCNMB2_chr3_178531436_178849429	178759048	T T	TATATATA others(30): Show TATATATATATATATATATATATATATCTCCAAGAGGG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0097 a0001c0001t0002g0097	1	232	0.0043	37	c.-67 others(56): Show c.-67-48269_-67-48268insCTCCAAGAGGGATATATATATATATA TATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178759050	T T	TATATATA others(30): Show TATATATATATATATATATATATATATCTCCAAGAGGG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp2 HG01257.hp1 others(6): Show HG01109.hp1 HG01109.hp2 HG01257.hp1 HG01258.hp2 HG01891.hp2 HG02896.hp1 HG03209.hp1 HG03225.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0105 a0001c0001t0002g0022 a0001c0001t0002g0054 others(6): Show a0001c0001t0001g0105 a0001c0001t0002g0022 a0001c0001t0002g0054 a0001c0001t0002g0065 a0001c0001t0002g0210 a0001c0001t0003g0086 a0001c0001t0003g0093 a0001c0001t0003g0115 a0001c0002t0001g0119	9	232	0.0388	37	c.-67 others(56): Show c.-67-48267_-67-48266insCTCCAAGAGGGATATATATATATATA TATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNN4_chr19_43761533_43785973	43780500	T T	TCCCTCCT others(30): Show TCCCTCCTCCCTCAGACCCACGAGTCCAAGCCCCCAGC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp1 HG02451.hp1 others(6): Show HG02055.hp1 HG02145.hp1 HG02451.hp1 HG02451.hp2 HG02647.hp2 HG03139.hp2 HG03540.hp1 NA18906.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010	a0001c0001t0001g0276 a0001c0001t0002g0277 a0001c0001t0003g0206 others(6): Show a0001c0001t0001g0276 a0001c0001t0002g0277 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0004g0211 a0001c0001t0005g0208 a0001c0001t0005g0209 a0001c0001t0005g0210 a0001c0001t0010g0205	9	440	0.0205	37	c.159 others(52): Show c.159+202_159+203insGCTGGGGGCTTGGACTCGTGGGTCTGAGGG AGGAGGG	KCNN4	ENSG00000104783.15	transcript	ENST00000648319.1	protein_coding	1/8			chr19	TogoVar
KCNN4_chr19_43761533_43785973	43780500	T T	TCCCTCCT others(30): Show TCCCTCCTCCCTCAGACCCAGGAGTCCAAGCCCCCAGC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp2 HG00597.hp2 others(79): Show HG00408.hp2 HG00544.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp2 HG01109.hp2 HG01167.hp2 HG01169.hp2 HG01361.hp2 HG01891.hp1 HG01943.hp2 HG01993.hp1 HG02027.hp2 HG02040.hp2 HG02071.hp1 HG02083.hp1 HG02083.hp2 HG02145.hp2 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02523.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02723.hp1 HG02809.hp1 HG02896.hp1 HG02965.hp1 HG03209.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03654.hp1 HG03669.hp2 HG03927.hp1 NA18612.hp1 NA18612.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18944.hp1 NA18947.hp2 NA18950.hp1 NA18955.hp2 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18964.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18988.hp1 NA18988.hp2 NA18994.hp2 NA18999.hp1 NA19006.hp2 NA19030.hp1 NA19056.hp2 NA19058.hp1 NA19066.hp1 NA19068.hp2 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA19089.hp2 NA19091.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0033 others(65): Show a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0002g0011 a0001c0001t0002g0035 a0001c0001t0002g0148 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0161 a0001c0001t0002g0164 a0001c0001t0002g0173 a0001c0001t0002g0178 a0001c0001t0002g0181 a0001c0001t0002g0183 a0001c0001t0002g0186 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0202 a0001c0001t0003g0348 a0001c0001t0004g0038 a0001c0001t0004g0193 a0001c0001t0005g0187 a0001c0001t0005g0191 a0001c0001t0008g0189	82	440	0.1864	37	c.159 others(52): Show c.159+202_159+203insGCTGGGGGCTTGGACTCCTGGGTCTGAGGG AGGAGGG	KCNN4	ENSG00000104783.15	transcript	ENST00000648319.1	protein_coding	1/8			chr19	TogoVar
KCNN4_chr19_43761533_43785973	43780537	T T	TCCCTCCT others(30): Show TCCCTCCTCCCTCAGACCCAGGAGTCCTGACCCTCAGC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01074.hp1 HG01099.hp1 others(8): Show HG00735.hp2 HG01074.hp1 HG01099.hp1 HG01256.hp2 HG01258.hp1 HG01346.hp2 HG01884.hp2 HG02895.hp1 HG03041.hp1 HG03139.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0017 a0001c0001t0001g0276 a0001c0001t0001g0279 others(6): Show a0001c0001t0001g0017 a0001c0001t0001g0276 a0001c0001t0001g0279 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0002g0277 a0001c0001t0002g0280 a0001c0001t0002g0281	11	440	0.0250	37	c.159 others(52): Show c.159+129_159+165dupGCTGAGGGTCAGGACTCCTGGGTCTGAGGG AGGAGGG	KCNN4	ENSG00000104783.15	transcript	ENST00000648319.1	protein_coding	1/8			chr19	TogoVar
KCNN4_chr19_43761533_43785973	43780594	G G	GGAGTCCT others(30): Show GGAGTCCTGACCCCCAGCCCCCCCTCCCTCAGACCCAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0348 a0001c0001t0003g0348	1	440	0.0023	37	c.159 others(51): Show c.159+72_159+108dupTTGGGTCTGAGGGAGGGGGGGCTGGGGGTCA GGACTC	KCNN4	ENSG00000104783.15	transcript	ENST00000648319.1	protein_coding	1/8			chr19	TogoVar
KCNQ1_chr11_2440008_2854105	2474700	G G	GCTCCCAG others(30): Show GCTCCCAGAGCTCTCTGGGAGAGGCCCAGAGAGGCCCA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00408.hp2 others(74): Show HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00673.hp1 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01168.hp1 HG01169.hp2 HG01255.hp1 HG01261.hp1 HG01361.hp1 HG01496.hp1 HG01891.hp1 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02083.hp1 HG02280.hp2 HG02486.hp2 HG02559.hp1 HG02602.hp1 HG02615.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02818.hp1 HG02970.hp2 HG03017.hp1 HG03098.hp2 HG03239.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG04115.hp1 HG04115.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18942.hp2 NA18947.hp2 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18979.hp2 NA18983.hp1 NA18986.hp2 NA19007.hp1 NA19007.hp2 NA19030.hp1 NA19043.hp1 NA19058.hp1 NA19058.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19091.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0008	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004 a0005c0008 a0008c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0003t0001 a0001c0003t0011 a0002c0004t0002 a0005c0008t0002 a0008c0012t0002	a0001c0001t0001g0034 a0001c0001t0001g0041 a0001c0001t0001g0042 others(74): Show a0001c0001t0001g0034 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0065 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0128 a0001c0001t0001g0134 a0001c0001t0001g0139 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0163 a0001c0001t0002g0007 a0001c0001t0002g0015 a0001c0001t0002g0049 a0001c0001t0002g0056 a0001c0001t0002g0061 a0001c0001t0002g0063 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0074 a0001c0001t0002g0079 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0091 a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0002g0116 a0001c0001t0002g0136 a0001c0001t0002g0161 a0001c0001t0002g0164 a0001c0001t0002g0170 a0001c0001t0002g0179 a0001c0001t0003g0052 a0001c0001t0003g0084 a0001c0001t0003g0100 a0001c0001t0003g0151 a0001c0001t0003g0180 a0001c0001t0003g0196 a0001c0001t0004g0003 a0001c0001t0007g0159 a0001c0001t0007g0199 a0001c0001t0008g0095 a0001c0001t0008g0107 a0001c0002t0001g0060 a0001c0002t0001g0092 a0001c0002t0001g0097 a0001c0002t0001g0102 a0001c0002t0001g0176 a0001c0002t0001g0195 a0001c0002t0002g0051 a0001c0002t0002g0083 a0001c0002t0002g0130 a0001c0002t0002g0152 a0001c0002t0002g0158 a0001c0002t0002g0160 a0001c0002t0002g0177 a0001c0002t0003g0010 a0001c0002t0004g0035 a0001c0003t0001g0081 a0001c0003t0001g0082 a0001c0003t0001g0099 a0001c0003t0011g0058 a0002c0004t0002g0067 a0005c0008t0002g0064 a0008c0012t0002g0173	77	208	0.3702	37	c.386 others(56): Show c.386+29225_386+29226insCTCTCTGGGAGAGGCCCAGAGAGGCC CACTCCCAGAG	KCNQ1	ENSG00000053918.19	transcript	ENST00000155840.12	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
KCNQ2_chr20_63395208_63477655	63395925	G G	GGGAGGGG others(30): Show GGGAGGGGCTGCAGGAGGAGGTGCGGGCCTGGCCGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp2 NA20905.hp2 HG03688.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0002 a0002c0001t0040 a0001c0002t0002 a0002c0001t0040	a0001c0002t0002g0047 a0002c0001t0040g0007 a0001c0002t0002g0047 a0002c0001t0040g0007	2	330	0.0061	37	c.10 others(50): Show c.10718_*10719insACCCGGCCAGGCCCGCACCTCCTCCTGCAGCC CCTCC	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding		4282		chr20	TogoVar
KCNQ3_chr8_132115861_132486095	132154193	G G	GTTTTTTT others(30): Show GTTTTTTTTTTTTTTTTTGTTTTGTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0092 a0001c0001t0092	a0001c0001t0092g0136 a0001c0001t0092g0136	1	176	0.0057	37	c.126 others(56): Show c.1262+9274_1262+9275insAAAAAAAAAAAAAACAAAACAAAAAA AAAAAAAAAAA	KCNQ3	ENSG00000184156.18	transcript	ENST00000388996.10	protein_coding	9/14			chr8	TogoVar
KCNQ3_chr8_132115861_132486095	132154193	G G	GTTTTTTT others(30): Show GTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0003 a0001c0001t0040g0003	1	176	0.0057	37	c.126 others(56): Show c.1262+9274_1262+9275insAAAAAAAAAAAAAACAAAAAAAAAAA AAAAAAAAAAA	KCNQ3	ENSG00000184156.18	transcript	ENST00000388996.10	protein_coding	9/14			chr8	TogoVar
KCNQ3_chr8_132115861_132486095	132297687	G G	GGGTCATT others(30): Show GGGTCATTTCTGCCTCGTTCACATGACAAGTTACGAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00621.hp2 others(83): Show HG00323.hp2 HG00408.hp2 HG00621.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01109.hp1 HG01175.hp1 HG01361.hp1 HG01361.hp2 HG01884.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01981.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02647.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03225.hp2 HG03239.hp2 HG03471.hp2 HG03486.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG03710.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18941.hp1 NA18945.hp1 NA18945.hp2 NA18957.hp1 NA18960.hp2 NA18971.hp2 NA18977.hp1 NA18977.hp2 NA18995.hp2 NA18999.hp2 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19065.hp1 NA19081.hp1 NA19088.hp1 NA19240.hp1 NA20129.hp2 NA20905.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0006 a0001c0007 others(2): Show a0001c0001 a0001c0006 a0001c0007 a0002c0002 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(64): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0033 a0001c0001t0035 a0001c0001t0036 a0001c0001t0039 a0001c0001t0040 a0001c0001t0042 a0001c0001t0043 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0056 a0001c0001t0058 a0001c0001t0063 a0001c0001t0064 a0001c0001t0068 a0001c0001t0070 a0001c0001t0073 a0001c0001t0076 a0001c0001t0077 a0001c0001t0082 a0001c0001t0083 a0001c0001t0084 a0001c0001t0087 a0001c0001t0089 a0001c0001t0092 a0001c0001t0093 a0001c0001t0096 a0001c0001t0099 a0001c0001t0100 a0001c0001t0101 a0001c0001t0102 a0001c0001t0103 a0001c0001t0104 a0001c0001t0105 a0001c0001t0106 a0001c0001t0110 a0001c0001t0111 a0001c0006t0098 a0001c0007t0059 a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0002c0002t0015 a0002c0002t0081 a0004c0008t0006	a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0024 others(83): Show a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0024 a0001c0001t0002g0115 a0001c0001t0003g0153 a0001c0001t0003g0155 a0001c0001t0003g0157 a0001c0001t0004g0075 a0001c0001t0004g0096 a0001c0001t0006g0110 a0001c0001t0006g0111 a0001c0001t0006g0121 a0001c0001t0008g0006 a0001c0001t0008g0010 a0001c0001t0008g0020 a0001c0001t0009g0019 a0001c0001t0010g0016 a0001c0001t0010g0022 a0001c0001t0011g0002 a0001c0001t0011g0025 a0001c0001t0011g0026 a0001c0001t0014g0108 a0001c0001t0014g0119 a0001c0001t0016g0132 a0001c0001t0016g0137 a0001c0001t0017g0139 a0001c0001t0017g0141 a0001c0001t0018g0033 a0001c0001t0018g0035 a0001c0001t0019g0041 a0001c0001t0020g0050 a0001c0001t0025g0100 a0001c0001t0026g0088 a0001c0001t0026g0098 a0001c0001t0028g0060 a0001c0001t0029g0134 a0001c0001t0030g0160 a0001c0001t0031g0165 a0001c0001t0031g0168 a0001c0001t0033g0031 a0001c0001t0035g0037 a0001c0001t0036g0032 a0001c0001t0039g0030 a0001c0001t0040g0003 a0001c0001t0042g0027 a0001c0001t0043g0034 a0001c0001t0051g0047 a0001c0001t0052g0049 a0001c0001t0053g0048 a0001c0001t0054g0052 a0001c0001t0056g0087 a0001c0001t0058g0065 a0001c0001t0063g0094 a0001c0001t0064g0097 a0001c0001t0068g0056 a0001c0001t0070g0066 a0001c0001t0073g0076 a0001c0001t0076g0063 a0001c0001t0077g0101 a0001c0001t0082g0102 a0001c0001t0083g0104 a0001c0001t0084g0109 a0001c0001t0087g0130 a0001c0001t0089g0142 a0001c0001t0092g0136 a0001c0001t0093g0131 a0001c0001t0096g0159 a0001c0001t0099g0148 a0001c0001t0100g0150 a0001c0001t0101g0156 a0001c0001t0102g0147 a0001c0001t0103g0151 a0001c0001t0104g0162 a0001c0001t0105g0163 a0001c0001t0106g0169 a0001c0001t0110g0164 a0001c0001t0111g0175 a0001c0006t0098g0154 a0001c0007t0059g0057 a0002c0002t0001g0007 a0002c0002t0001g0013 a0002c0002t0002g0117 a0002c0002t0005g0127 a0002c0002t0015g0107 a0002c0002t0081g0103 a0004c0008t0006g0122	86	176	0.4886	37	c.387 others(58): Show c.387-111507_387-111506insTTTCGTAACTTGTCATGTGAACGA GGCAGAAATGACC	KCNQ3	ENSG00000184156.18	transcript	ENST00000388996.10	protein_coding	1/14			chr8	TogoVar
KCNQ3_chr8_132115861_132486095	132403016	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0100 a0001c0001t0025g0100	1	176	0.0057	37	c.386 others(56): Show c.386+77130_386+77131insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	KCNQ3	ENSG00000184156.18	transcript	ENST00000388996.10	protein_coding	1/14			chr8	TogoVar
KCNQ5_chr6_72617064_73203853	72852640	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0039 a0001c0002t0001g0039	1	80	0.0125	37	c.399 others(58): Show c.399-151268_399-151267insTATATATATATATATATATATATA TATATATATATAT	KCNQ5	ENSG00000185760.18	transcript	ENST00000370398.6	protein_coding	1/13			chr6	TogoVar
KCNQ5_chr6_72617064_73203853	73024381	T T	TGATAGAT others(30): Show TGATAGATAGATAGATTAGATAGATAGATAGATAGATA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00639.hp2 HG01071.hp1 others(16): Show HG00597.hp1 HG00639.hp2 HG01071.hp1 HG02055.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02647.hp2 HG02723.hp1 HG03098.hp1 HG03098.hp2 HG03486.hp2 HG03516.hp2 HG03834.hp2 NA18944.hp2 NA19240.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0011	a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 others(15): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0024 a0001c0001t0028 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0021 a0001c0002t0030 a0001c0003t0009 a0001c0004t0001 a0001c0004t0002 a0001c0011t0034	a0001c0001t0003g0067 a0001c0001t0005g0014 a0001c0001t0006g0022 others(16): Show a0001c0001t0003g0067 a0001c0001t0005g0014 a0001c0001t0006g0022 a0001c0001t0007g0004 a0001c0001t0007g0016 a0001c0001t0008g0018 a0001c0001t0010g0012 a0001c0001t0012g0068 a0001c0001t0024g0029 a0001c0001t0028g0049 a0001c0002t0001g0002 a0001c0002t0002g0041 a0001c0002t0003g0071 a0001c0002t0021g0038 a0001c0002t0030g0059 a0001c0003t0009g0080 a0001c0004t0001g0076 a0001c0004t0002g0078 a0001c0011t0034g0003	19	80	0.2375	37	c.490 others(56): Show c.490-17540_490-17539insTAGATAGATAGATAGATAGATAGATA GATAGATAGAT	KCNQ5	ENSG00000185760.18	transcript	ENST00000370398.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
KCNT1_chr9_135697185_135800502	135732024	A A	AGAGAGAG others(30): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0130 a0001c0004t0001g0130	1	272	0.0037	37	c.254 others(56): Show c.254+17321_254+17322insAGAGAGAGAGAGAGAGAGAGGAGAGA GAGAGAGAGAG	KCNT1	ENSG00000107147.14	transcript	ENST00000371757.7	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNT2_chr1_196220779_196613440	196284248	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp2 NA18990.hp1 HG01175.hp2 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0053 a0001c0001t0001g0024 a0001c0001t0001g0053	2	136	0.0147	37	c.269 others(56): Show c.2697+1408_2697+1409insATATATATATATATATATATATTTTT TTTTTTTTTTT	KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	23/27			chr1	TogoVar
KCTD4_chr13_45187853_45206045	45191224	A A	AAAAAAAA others(30): Show AAAAAAAAATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	352	0.0028	37	c.25 others(48): Show c.2563_*2564insATATATATATATATATATATATATATATATTTTT TTT	KCTD4	ENSG00000180332.7	transcript	ENST00000379108.2	protein_coding		1628		chr13	TogoVar
KDELR1_chr19_48377575_48396551	48389932	G G	GCCCCTCC others(30): Show GCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02965.hp1 HG02258.hp2 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	2	432	0.0046	37	c.193 others(52): Show c.193-258_193-222dupTTGGGGGCCTGGACTCCTGGGTCTGAGGGA GGAGGGG	KDELR1	ENSG00000105438.9	transcript	ENST00000330720.7	protein_coding	2/4			chr19	TogoVar
KDELR1_chr19_48377575_48396551	48392282	A A	ATCCCCAG others(30): Show ATCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	432	0.0023	37	c.-92 others(46): Show c.-925_-924insCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGG A	KDELR1	ENSG00000105438.9	transcript	ENST00000330720.7	protein_coding		732		chr19	TogoVar
KDELR1_chr19_48377575_48396551	48392312	A A	AGTCCAGG others(30): Show AGTCCAGGGCCCCAGCCCCTCCTCCCTCAGACCCAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0114 a0001c0001t0008g0114	1	432	0.0023	37	c.-95 others(46): Show c.-955_-954insCCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCCTGGA C	KDELR1	ENSG00000105438.9	transcript	ENST00000330720.7	protein_coding		762		chr19	TogoVar
KDELR1_chr19_48377575_48396551	48392320	T T	TCCCCAGC others(30): Show TCCCCAGCCCCTCCTCCCTCAGACCCAGGGGTCCAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	432	0.0023	37	c.-96 others(46): Show c.-963_-962insCCCTGGACCCCTGGGTCTGAGGGAGGAGGGGCTGGG G	KDELR1	ENSG00000105438.9	transcript	ENST00000330720.7	protein_coding		770		chr19	TogoVar
KDM1B_chr6_18150422_18228854	18155153	C C	CTTTCCCG others(30): Show CTTTCCCGCGCCCCGCCTCTTTCCCGCGCCCCGCCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG03669.hp2 others(1): Show HG01256.hp2 HG01258.hp2 HG03669.hp2 HG04228.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003	a0001c0003t0001g0001 a0001c0003t0001g0037 a0001c0003t0002g0031 others(1): Show a0001c0003t0001g0001 a0001c0003t0001g0037 a0001c0003t0002g0031 a0001c0003t0003g0001	4	392	0.0102	37	c.-47 others(46): Show c.-476_-475insTTTCCCGCGCCCCGCCTCTTTCCCGCGCCCCGCCTC T	KDM1B	ENSG00000165097.16	transcript	ENST00000650836.2	protein_coding		268		chr6	TogoVar
KDM1B_chr6_18150422_18228854	18155170	C C	CTTTCCCG others(30): Show CTTTCCCGCGCCCCGCCTCTTTCCCGCGCCCCGCCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG04199.hp1 HG02109.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0007 a0001c0003t0003 a0001c0001t0007 a0001c0003t0003	a0001c0001t0007g0370 a0001c0003t0003g0040 a0001c0001t0007g0370 a0001c0003t0003g0040	2	392	0.0051	37	c.-45 others(46): Show c.-459_-458insTTTCCCGCGCCCCGCCTCTTTCCCGCGCCCCGCCTC T	KDM1B	ENSG00000165097.16	transcript	ENST00000650836.2	protein_coding		251		chr6	TogoVar
KDM1B_chr6_18150422_18228854	18208627	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0380 a0001c0001t0002g0380	1	392	0.0026	37	c.186 others(54): Show c.1866+422_1866+423insATATATATATATATATATATATATATAT ATATATTTT	KDM1B	ENSG00000165097.16	transcript	ENST00000650836.2	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
KDM4A_chr1_43645149_43710518	43649226	C C	CTTTTTTT others(30): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	370	0.0027	37	c.-10 others(48): Show c.-1066_-1065insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	KDM4A	ENSG00000066135.13	transcript	ENST00000372396.4	protein_coding		922		chr1	TogoVar
KDM4C_chr9_6752973_7180648	7052909	G G	GCGAGCGA others(30): Show GCGAGCGAGCGAGAGATTGTTGTACAGTGGGGTGCTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02922.hp1 HG02965.hp2 others(1): Show HG02647.hp1 HG02922.hp1 HG02965.hp2 homoSapiens_chm13v2.hp1	a0001 a0007 a0013 a0001 a0007 a0013	a0001c0001 a0001c0002 a0007c0034 others(1): Show a0001c0001 a0001c0002 a0007c0034 a0013c0025	a0001c0001t0004 a0001c0002t0002 a0007c0034t0001 others(1): Show a0001c0001t0004 a0001c0002t0002 a0007c0034t0001 a0013c0025t0009	a0001c0001t0004g0265 a0001c0002t0002g0197 a0007c0034t0001g0001 others(1): Show a0001c0001t0004g0265 a0001c0002t0002g0197 a0007c0034t0001g0001 a0013c0025t0009g0259	4	266	0.0150	37	c.242 others(56): Show c.2424+3709_2424+3710insCGAGCGAGCGAGAGATTGTTGTACAG TGGGGTGCTTT	KDM4C	ENSG00000107077.20	transcript	ENST00000381309.8	protein_coding	17/21			chr9	TogoVar
KDM4C_chr9_6752973_7180648	7052909	G G	GCGAGTGA others(30): Show GCGAGTGAGTGAGAGATTGTTGTACAGTGGGGTGCTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0026 a0026	a0026c0033 a0026c0033	a0026c0033t0001 a0026c0033t0001	a0026c0033t0001g0002 a0026c0033t0001g0002	1	266	0.0038	37	c.242 others(56): Show c.2424+3709_2424+3710insCGAGTGAGTGAGAGATTGTTGTACAG TGGGGTGCTTT	KDM4C	ENSG00000107077.20	transcript	ENST00000381309.8	protein_coding	17/21			chr9	TogoVar
KDM5A_chr12_275057_394320	389573	A A	AGGCGGGG others(30): Show AGGCGGGGCGAGGCGGGGCGAGGCGGGGCGAGGCGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02809.hp2 HG03195.hp2 HG01891.hp2 HG02809.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0068 a0001c0001t0072 a0001c0001t0030 a0001c0001t0068 a0001c0001t0072	a0001c0001t0030g0340 a0001c0001t0068g0315 a0001c0001t0072g0341 a0001c0001t0030g0340 a0001c0001t0068g0315 a0001c0001t0072g0341	3	350	0.0086	37	c.-48 others(46): Show c.-483_-482insCCCCGCCTCGCCCCGCCTCGCCCCGCCTCGCCCCGC C	KDM5A	ENSG00000073614.13	transcript	ENST00000399788.7	protein_coding		254		chr12	TogoVar
KEL_chr7_142936114_142967363	142965779	T T	TTATATTA others(30): Show TTATATTATATATATTATATATATATTTATATTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG02257.hp1 HG03453.hp2 others(1): Show HG00642.hp1 HG02257.hp1 HG03453.hp2 HG03486.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0004 a0001c0002 a0001c0003 a0002c0004	a0001c0002t0001 a0001c0003t0001 a0002c0004t0001 a0001c0002t0001 a0001c0003t0001 a0002c0004t0001	a0001c0002t0001g0087 a0001c0003t0001g0034 a0001c0003t0001g0095 others(1): Show a0001c0002t0001g0087 a0001c0003t0001g0034 a0001c0003t0001g0095 a0002c0004t0001g0028	4	253	0.0158	37	c.-35 others(48): Show c.-3574_-3573insTATATAATATAAATATATATATAATATATATAAT ATA	KEL	ENSG00000197993.9	transcript	ENST00000355265.7	protein_coding		3417		chr7	TogoVar
KHDRBS2_chr6_61674961_62291225	61983200	T T	TTTTCTTT others(30): Show TTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02896.hp1 HG03017.hp2 others(2): Show HG02258.hp2 HG02896.hp1 HG03017.hp2 HG03688.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0009 a0001c0002t0004 a0001c0003t0003 others(2): Show a0001c0001t0009 a0001c0002t0004 a0001c0003t0003 a0001c0004t0002 a0001c0004t0004	a0001c0001t0009g0086 a0001c0002t0004g0195 a0001c0003t0003g0080 others(2): Show a0001c0001t0009g0086 a0001c0002t0004g0195 a0001c0003t0003g0080 a0001c0004t0002g0170 a0001c0004t0004g0235	5	244	0.0205	37	c.337 others(54): Show c.337-4989_337-4988insGAAAGAAAGAAAGAAAGAAAGAAAGAAA AGAAAGAAA	KHDRBS2	ENSG00000112232.10	transcript	ENST00000281156.5	protein_coding	3/8			chr6	TogoVar
KHSRP_chr19_6408102_6429811	6429164	A A	ATTATATA others(30): Show ATTATATATATGTTATATATATATATTATATATATGTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0118 a0001c0003t0011g0118	1	386	0.0026	37	c.-44 others(48): Show c.-4464_-4463insAACATATATATAATATATATATATAACATATATA TAA	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4354		chr19	TogoVar
KIAA0586_chr14_58422719_58556297	58484924	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0076 a0002c0002t0001g0076	1	300	0.0033	37	c.314 others(56): Show c.3145-2082_3145-2081insATATATATATATATATATATATATAT ATATTTTTTTT	KIAA0586	ENSG00000100578.18	transcript	ENST00000652326.2	protein_coding	21/30		INFO_REALIGN_3_PRIME	chr14	TogoVar
KIAA0586_chr14_58422719_58556297	58505793	T T	TTAAAGTT others(30): Show TTAAAGTTTTTCTTGTTAGTTTTAAAGTTTTCTTGTTA	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19066.hp2 NA19070.hp1 others(1): Show NA19057.hp2 NA19066.hp2 NA19070.hp1 NA19077.hp1	a0006 a0019 a0006 a0019	a0006c0003 a0019c0009 a0006c0003 a0019c0009	a0006c0003t0011 a0019c0009t0001 a0006c0003t0011 a0019c0009t0001	a0006c0003t0011g0280 a0006c0003t0011g0281 a0006c0003t0011g0282 others(1): Show a0006c0003t0011g0280 a0006c0003t0011g0281 a0006c0003t0011g0282 a0019c0009t0001g0279	4	300	0.0133	37	c.416 others(56): Show c.4169-2762_4169-2761insTAAAGTTTTTCTTGTTAGTTTTAAAG TTTTCTTGTTA	KIAA0586	ENSG00000100578.18	transcript	ENST00000652326.2	protein_coding	27/30			chr14	TogoVar
KIAA0930_chr22_45187244_45245894	45228791	A A	ACACTCAC others(30): Show ACACTCACCTGAGAGATCCCTCTCCACCCCCCAACCAC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0194 a0001c0001t0052g0194	1	398	0.0025	37	c.64+ others(54): Show c.64+11848_64+11849insGTGGTTGGGGGGTGGAGAGGGATCTCTC AGGTGAGTG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIAA0930_chr22_45187244_45245894	45228826	T T	TCACCACT others(30): Show TCACCACTCACCCGAAAGATCCCTCTTCACCCCCCAAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03139.hp2 HG02055.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0162 a0001c0002t0170 a0001c0001t0162 a0001c0002t0170	a0001c0001t0162g0024 a0001c0002t0170g0306 a0001c0001t0162g0024 a0001c0002t0170g0306	2	398	0.0050	37	c.64+ others(54): Show c.64+11777_64+11813dupGTTGGGGGGTGAAGAGGGATCTTTCGGG TGAGTGGTG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIAA0930_chr22_45187244_45245894	45228913	A A	AAGATCCC others(30): Show AAGATCCCTCTCCACCCCCACACCACCACTCACCTGAG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0108 a0001c0001t0108	a0001c0001t0108g0379 a0001c0001t0108g0379	1	398	0.0025	37	c.64+ others(54): Show c.64+11726_64+11727insCTCAGGTGAGTGGTGGTGTGGGGGTGGA GAGGGATCT	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIAA0930_chr22_45187244_45245894	45229040	C C	CCCCCGCC others(30): Show CCCCCGCCACCACCACTCACCCGAAAGATCCCTCTCCA	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA19066.hp2 NA18999.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0002g0332 a0001c0001t0002g0333	2	398	0.0050	37	c.64+ others(54): Show c.64+11599_64+11600insTGGAGAGGGATCTTTCGGGTGAGTGGTG GTGGCGGGG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIAA0930_chr22_45187244_45245894	45229041	C C	CCCCGCCA others(30): Show CCCCGCCACCACCACTCACCCTAAAGATCCCTCCCCAT	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA18906.hp1 HG02965.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0171 a0001c0001t0005 a0001c0001t0171	a0001c0001t0005g0184 a0001c0001t0171g0182 a0001c0001t0005g0184 a0001c0001t0171g0182	2	398	0.0050	37	c.64+ others(54): Show c.64+11598_64+11599insATGGGGAGGGATCTTTAGGGTGAGTGGT GGTGGCGGG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIAA0930_chr22_45187244_45245894	45229082	C C	CCCCGCCA others(30): Show CCCCGCCACCACCACTCACCCTAAAGATCCCTCCCCAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0099 a0001c0001t0099	a0001c0001t0099g0210 a0001c0001t0099g0210	1	398	0.0025	37	c.64+ others(54): Show c.64+11557_64+11558insATGGGGAGGGATCTTTAGGGTGAGTGGT GGTGGCGGG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIAA0930_chr22_45187244_45245894	45229168	G G	GCCATCAC others(30): Show GCCATCACCACTCACCTGAAAGATTCCTCTCCACATCC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00558.hp1 HG00735.hp1 others(22): Show HG00280.hp2 HG00558.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp2 HG01978.hp1 HG02015.hp1 HG02258.hp1 HG03704.hp2 HG03831.hp1 HG03927.hp2 HG04184.hp2 HG04204.hp2 NA18939.hp2 NA18946.hp1 NA18950.hp2 NA18953.hp1 NA18971.hp2 NA18983.hp2 NA19030.hp1 NA19056.hp1 NA19065.hp1 NA20300.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0015 a0001c0001t0021 a0001c0001t0023 a0001c0001t0029 a0001c0001t0033 a0001c0001t0039 a0001c0001t0041 a0001c0001t0042 a0001c0001t0076 a0001c0001t0088 a0001c0001t0092 a0001c0001t0095 a0001c0001t0099 a0001c0001t0108 a0001c0001t0110 a0001c0001t0138 a0001c0001t0168	a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0230 others(22): Show a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0240 a0001c0001t0002g0221 a0001c0001t0002g0235 a0001c0001t0006g0249 a0001c0001t0015g0224 a0001c0001t0021g0377 a0001c0001t0023g0369 a0001c0001t0029g0374 a0001c0001t0033g0218 a0001c0001t0039g0225 a0001c0001t0041g0371 a0001c0001t0042g0222 a0001c0001t0076g0372 a0001c0001t0088g0035 a0001c0001t0092g0368 a0001c0001t0095g0370 a0001c0001t0099g0210 a0001c0001t0108g0379 a0001c0001t0110g0335 a0001c0001t0138g0217 a0001c0001t0168g0342	25	398	0.0628	37	c.64+ others(54): Show c.64+11471_64+11472insGGATGTGGAGAGGAATCTTTCAGGTGAG TGGTGATGG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIAA2012_chr2_202068255_202210188	202132747	A A	ATATATAT others(30): Show ATATATATATAGTATATATGTATATATATAGTATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp1 others(133): Show HG00099.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00621.hp2 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01361.hp2 HG01433.hp2 HG01517.hp2 HG01928.hp1 HG01975.hp2 HG01993.hp1 HG02040.hp2 HG02071.hp2 HG02080.hp2 HG02109.hp1 HG02132.hp2 HG02165.hp2 HG02257.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02615.hp2 HG02622.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02922.hp2 HG02970.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03209.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03491.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp1 NA18906.hp1 NA18939.hp2 NA18942.hp1 NA18945.hp2 NA18949.hp2 NA18950.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18961.hp1 NA18962.hp1 NA18965.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18979.hp1 NA18980.hp2 NA18981.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18989.hp1 NA18992.hp2 NA18993.hp2 NA18995.hp1 NA18999.hp2 NA19000.hp2 NA19001.hp2 NA19002.hp2 NA19003.hp2 NA19007.hp1 NA19009.hp2 NA19054.hp2 NA19055.hp2 NA19057.hp1 NA19058.hp1 NA19062.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19070.hp2 NA19077.hp1 NA19081.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA20905.hp1	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0009 a0019 a0021 a0026 a0028 a0029 a0030 a0031	a0001c0002 a0001c0004 a0002c0001 others(16): Show a0001c0002 a0001c0004 a0002c0001 a0002c0008 a0003c0006 a0003c0009 a0004c0003 a0005c0005 a0007c0011 a0007c0016 a0008c0010 a0009c0013 a0019c0026 a0021c0041 a0026c0035 a0028c0040 a0029c0032 a0030c0033 a0031c0030	a0001c0002t0001 a0001c0004t0001 a0001c0004t0002 others(21): Show a0001c0002t0001 a0001c0004t0001 a0001c0004t0002 a0002c0001t0001 a0002c0001t0002 a0002c0008t0001 a0003c0006t0001 a0003c0009t0001 a0003c0009t0002 a0004c0003t0001 a0005c0005t0001 a0005c0005t0002 a0007c0011t0001 a0007c0011t0003 a0007c0016t0001 a0008c0010t0001 a0009c0013t0001 a0019c0026t0001 a0021c0041t0001 a0026c0035t0001 a0028c0040t0001 a0029c0032t0001 a0030c0033t0001 a0031c0030t0002	a0001c0002t0001g0101 a0001c0002t0001g0104 a0001c0002t0001g0105 others(133): Show a0001c0002t0001g0101 a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0001g0114 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0177 a0001c0002t0001g0196 a0001c0004t0001g0100 a0001c0004t0001g0111 a0001c0004t0001g0132 a0001c0004t0001g0138 a0001c0004t0001g0142 a0001c0004t0001g0201 a0001c0004t0001g0205 a0001c0004t0001g0216 a0001c0004t0001g0218 a0001c0004t0001g0219 a0001c0004t0001g0221 a0001c0004t0001g0224 a0001c0004t0002g0202 a0002c0001t0001g0061 a0002c0001t0001g0226 a0002c0001t0001g0234 a0002c0001t0001g0237 a0002c0001t0001g0240 a0002c0001t0001g0241 a0002c0001t0001g0242 a0002c0001t0001g0245 a0002c0001t0001g0247 a0002c0001t0001g0248 a0002c0001t0001g0249 a0002c0001t0001g0250 a0002c0001t0001g0252 a0002c0001t0001g0253 a0002c0001t0001g0254 a0002c0001t0001g0255 a0002c0001t0001g0257 a0002c0001t0001g0258 a0002c0001t0001g0259 a0002c0001t0001g0260 a0002c0001t0001g0261 a0002c0001t0001g0262 a0002c0001t0001g0265 a0002c0001t0001g0267 a0002c0001t0001g0268 a0002c0001t0001g0270 a0002c0001t0001g0271 a0002c0001t0001g0272 a0002c0001t0001g0273 a0002c0001t0001g0274 a0002c0001t0001g0275 a0002c0001t0001g0276 a0002c0001t0001g0277 a0002c0001t0001g0278 a0002c0001t0001g0285 a0002c0001t0001g0286 a0002c0001t0001g0290 a0002c0001t0001g0292 a0002c0001t0001g0295 a0002c0001t0001g0296 a0002c0001t0001g0297 a0002c0001t0001g0298 a0002c0001t0001g0301 a0002c0001t0002g0263 a0002c0001t0002g0269 a0002c0008t0001g0266 a0002c0008t0001g0279 a0002c0008t0001g0289 a0003c0006t0001g0056 a0003c0006t0001g0062 a0003c0006t0001g0068 a0003c0006t0001g0090 a0003c0006t0001g0091 a0003c0006t0001g0092 a0003c0006t0001g0094 a0003c0009t0001g0009 a0003c0009t0001g0024 a0003c0009t0001g0059 a0003c0009t0001g0060 a0003c0009t0001g0063 a0003c0009t0002g0052 a0004c0003t0001g0045 a0005c0005t0001g0170 a0005c0005t0001g0173 a0005c0005t0001g0182 a0005c0005t0001g0185 a0005c0005t0001g0186 a0005c0005t0001g0187 a0005c0005t0001g0188 a0005c0005t0001g0189 a0005c0005t0001g0190 a0005c0005t0001g0192 a0005c0005t0001g0193 a0005c0005t0001g0194 a0005c0005t0001g0195 a0005c0005t0001g0197 a0005c0005t0001g0199 a0005c0005t0001g0204 a0005c0005t0001g0206 a0005c0005t0001g0207 a0005c0005t0001g0209 a0005c0005t0001g0210 a0005c0005t0001g0211 a0005c0005t0001g0214 a0005c0005t0001g0217 a0005c0005t0001g0220 a0005c0005t0001g0223 a0005c0005t0002g0198 a0007c0011t0001g0302 a0007c0011t0001g0303 a0007c0011t0001g0305 a0007c0011t0003g0307 a0007c0016t0001g0304 a0007c0016t0001g0308 a0007c0016t0001g0309 a0008c0010t0001g0228 a0008c0010t0001g0229 a0008c0010t0001g0230 a0008c0010t0001g0231 a0008c0010t0001g0232 a0008c0010t0001g0233 a0009c0013t0001g0023 a0009c0013t0001g0048 a0009c0013t0001g0049 a0009c0013t0001g0079 a0019c0026t0001g0033 a0021c0041t0001g0180 a0026c0035t0001g0137 a0028c0040t0001g0208 a0029c0032t0001g0239 a0030c0033t0001g0236 a0031c0030t0002g0264	136	312	0.4359	37	c.183 others(56): Show c.1832-5685_1832-5684insTATATATATAGTATATATGTATATAT ATAGTATATAT	KIAA2012	ENSG00000182329.14	transcript	ENST00000498697.3	protein_coding	12/23			chr2	TogoVar
KIAA2012_chr2_202068255_202210188	202133130	A A	ATATATAT others(30): Show ATATATATATATATATATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0163 a0001c0004t0001g0163	1	312	0.0032	37	c.183 others(56): Show c.1832-5301_1832-5300insATATATATATATATATTTTTTTTTTT TTTTTTTTTTT	KIAA2012	ENSG00000182329.14	transcript	ENST00000498697.3	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
KIF13B_chr8_29062278_29268070	29228472	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0182 a0001c0001t0003g0182	1	288	0.0035	37	c.149 others(56): Show c.149+16873_149+16874insATATATATATATATATATATATATTT TTTTTTTTTTT	KIF13B	ENSG00000197892.13	transcript	ENST00000524189.6	protein_coding	2/39			chr8	TogoVar

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