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
KCNMB1_chr5_170369671_170394367	170390517	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0012 a0001c0001t0014g0012	1	432	0.0023	38	c.-12 others(49): Show c.-1284_-1283insATATATATATATATATATATATATATATATATAT ATAT	KCNMB1	ENSG00000145936.9	transcript	ENST00000274629.9	protein_coding		1151		chr5	TogoVar
KCNMB2_chr3_178531436_178849429	178757830	C C	CAAGAGGA others(31): Show CAAGAGGATATATATATATATATCCAAGAGGATATATAT	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA18971.hp2 HG02027.hp1 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0123 a0001c0001t0004g0129 a0001c0001t0004g0123 a0001c0001t0004g0129	2	232	0.0086	38	c.-67 others(57): Show c.-67-49512_-67-49511insAGAGGATATATATATATATATCCAAG AGGATATATATA	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758291	G G	GATATATA others(31): Show GATATATATATATATATATATCTCCAAGGGGATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02896.hp1 HG02622.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0065 a0001c0001t0005g0003 a0001c0001t0002g0065 a0001c0001t0005g0003	2	232	0.0086	38	c.-67 others(57): Show c.-67-49038_-67-49037insATATATCTCCAAGGGGATATATATAT ATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758533	T T	TATATCCA others(31): Show TATATCCAAGGGGATATATATATATATATATCCAAGGGG	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18980.hp1 NA18747.hp1 NA18980.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0055 a0001c0002t0001g0060 a0001c0002t0001g0055 a0001c0002t0001g0060	2	232	0.0086	38	c.-67 others(57): Show c.-67-48806_-67-48805insCCAAGGGGATATATATATATATATAT CCAAGGGGATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178817218	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0085 a0001c0002t0006g0085	1	232	0.0043	38	c.57- others(53): Show c.57-8361_57-8360insTATATATATATATATATATATATATATACA TATATATA	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNN2_chr5_114357070_114501496	114373640	T T	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03491.hp2 HG03492.hp2 HG02486.hp2 HG03491.hp2 HG03492.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0004 a0001c0001 a0005c0004	a0001c0001t0001 a0005c0004t0001 a0001c0001t0001 a0005c0004t0001	a0001c0001t0001g0001 a0005c0004t0001g0147 a0001c0001t0001g0001 a0005c0004t0001g0147	3	250	0.0120	38	c.121 others(57): Show c.1218+9657_1218+9658insTATATATATATATATATATATATATA TATATATATATA	KCNN2	ENSG00000080709.17	transcript	ENST00000673685.1	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
KCNQ1_chr11_2440008_2854105	2544280	G G	GTGTATAT others(31): Show GTGTATATATGTATATATATACGTATATATGTGTATATA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03225.hp1 HG03130.hp2 HG03225.hp1	a0003 a0006 a0003 a0006	a0003c0010 a0006c0013 a0003c0010 a0006c0013	a0003c0010t0001 a0006c0013t0002 a0003c0010t0001 a0006c0013t0002	a0003c0010t0001g0009 a0006c0013t0002g0027 a0003c0010t0001g0009 a0006c0013t0002g0027	2	208	0.0096	38	c.477 others(57): Show c.477+16271_477+16272insGTATATATATACGTATATATGTGTAT ATATGTATATAT	KCNQ1	ENSG00000053918.19	transcript	ENST00000155840.12	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
KCNQ1_chr11_2440008_2854105	2733814	A A	ACACACAC others(31): Show ACACACACACACACACACACTCTCTCTCTCACTCTCTCT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0049	1	208	0.0048	38	c.151 others(59): Show c.1515-35029_1515-35028insACACACACACACACACACTCTCTC TCTCACTCTCTCTC	KCNQ1	ENSG00000053918.19	transcript	ENST00000155840.12	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
KCNQ2_chr20_63395208_63477655	63395902	G G	GAGGAGGT others(31): Show GAGGAGGTGCGGGCCCAGTGGAGGTGGAGGGGCTGCAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00558.hp2 others(95): Show HG00099.hp2 HG00140.hp1 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01358.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG02040.hp2 HG02055.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02257.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp2 HG02886.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03516.hp2 HG03654.hp1 HG03669.hp1 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18970.hp1 NA19043.hp1 NA19043.hp2 NA19067.hp2 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0004 others(12): Show a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0012 a0001c0014 a0001c0017 a0001c0021 a0001c0028 a0002c0001 a0002c0006 a0002c0011 a0002c0013 a0002c0015 a0002c0018	a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 others(51): Show a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0012 a0001c0002t0022 a0001c0002t0024 a0001c0002t0034 a0001c0002t0070 a0001c0002t0071 a0001c0002t0072 a0001c0002t0074 a0001c0002t0075 a0001c0002t0078 a0001c0002t0080 a0001c0002t0083 a0001c0002t0084 a0001c0002t0087 a0001c0002t0088 a0001c0002t0090 a0001c0002t0092 a0001c0003t0013 a0001c0003t0015 a0001c0003t0022 a0001c0003t0100 a0001c0004t0004 a0001c0004t0035 a0001c0004t0093 a0001c0004t0110 a0001c0007t0007 a0001c0012t0052 a0001c0014t0015 a0001c0017t0050 a0001c0017t0051 a0001c0021t0053 a0001c0028t0091 a0002c0001t0005 a0002c0001t0006 a0002c0001t0014 a0002c0001t0021 a0002c0001t0039 a0002c0001t0042 a0002c0001t0049 a0002c0001t0056 a0002c0001t0059 a0002c0001t0060 a0002c0001t0066 a0002c0001t0076 a0002c0001t0077 a0002c0006t0039 a0002c0011t0018 a0002c0013t0014 a0002c0013t0021 a0002c0015t0033 a0002c0018t0006	a0001c0002t0002g0183 a0001c0002t0004g0175 a0001c0002t0004g0176 others(92): Show a0001c0002t0002g0183 a0001c0002t0004g0175 a0001c0002t0004g0176 a0001c0002t0005g0021 a0001c0002t0005g0022 a0001c0002t0005g0045 a0001c0002t0012g0037 a0001c0002t0012g0098 a0001c0002t0022g0052 a0001c0002t0024g0110 a0001c0002t0024g0174 a0001c0002t0024g0258 a0001c0002t0034g0040 a0001c0002t0070g0171 a0001c0002t0071g0046 a0001c0002t0072g0173 a0001c0002t0074g0240 a0001c0002t0075g0222 a0001c0002t0078g0246 a0001c0002t0080g0236 a0001c0002t0083g0041 a0001c0002t0084g0254 a0001c0002t0087g0104 a0001c0002t0088g0093 a0001c0002t0090g0170 a0001c0002t0092g0049 a0001c0003t0013g0292 a0001c0003t0013g0296 a0001c0003t0015g0031 a0001c0003t0022g0111 a0001c0003t0100g0268 a0001c0004t0004g0051 a0001c0004t0004g0094 a0001c0004t0004g0128 a0001c0004t0004g0129 a0001c0004t0004g0130 a0001c0004t0004g0131 a0001c0004t0004g0154 a0001c0004t0004g0166 a0001c0004t0035g0163 a0001c0004t0035g0206 a0001c0004t0093g0165 a0001c0004t0110g0324 a0001c0007t0007g0228 a0001c0007t0007g0229 a0001c0007t0007g0232 a0001c0007t0007g0233 a0001c0007t0007g0234 a0001c0007t0007g0235 a0001c0007t0007g0244 a0001c0012t0052g0043 a0001c0014t0015g0230 a0001c0017t0050g0053 a0001c0017t0051g0160 a0001c0021t0053g0023 a0001c0028t0091g0024 a0002c0001t0005g0004 a0002c0001t0005g0054 a0002c0001t0005g0212 a0002c0001t0005g0214 a0002c0001t0006g0038 a0002c0001t0006g0063 a0002c0001t0006g0075 a0002c0001t0006g0077 a0002c0001t0006g0079 a0002c0001t0006g0083 a0002c0001t0006g0095 a0002c0001t0006g0126 a0002c0001t0006g0140 a0002c0001t0006g0141 a0002c0001t0014g0025 a0002c0001t0014g0162 a0002c0001t0014g0168 a0002c0001t0014g0169 a0002c0001t0021g0218 a0002c0001t0021g0219 a0002c0001t0039g0264 a0002c0001t0042g0008 a0002c0001t0049g0223 a0002c0001t0056g0078 a0002c0001t0059g0042 a0002c0001t0060g0097 a0002c0001t0066g0217 a0002c0001t0076g0220 a0002c0001t0077g0073 a0002c0006t0039g0305 a0002c0011t0018g0005 a0002c0011t0018g0215 a0002c0011t0018g0216 a0002c0013t0014g0134 a0002c0013t0021g0133 a0002c0013t0021g0135 a0002c0015t0033g0011 a0002c0015t0033g0012 a0002c0018t0006g0006	98	330	0.2970	38	c.10 others(51): Show c.10741_*10742insGCTGCAGCCCCTCCACCTCCACTGGGCCCGCA CCTCCT	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding		4305		chr20	TogoVar
KCNQ2_chr20_63395208_63477655	63395912	G G	GGGCCCAG others(31): Show GGGCCCAGTGGAGGTGGAGGGGCTGCAGCAGGAGGTGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02109.hp1 HG01109.hp2 HG02109.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0058 a0002c0001t0064 a0002c0001t0058 a0002c0001t0064	a0002c0001t0058g0204 a0002c0001t0064g0088 a0002c0001t0058g0204 a0002c0001t0064g0088	2	330	0.0061	38	c.10 others(51): Show c.10731_*10732insTGCACCTCCTGCTGCAGCCCCTCCACCTCCAC TGGGCC	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding		4295		chr20	TogoVar
KCNQ2_chr20_63395208_63477655	63445743	A A	AGACCCTG others(31): Show AGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00438.hp2 others(111): Show HG00099.hp2 HG00408.hp2 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00738.hp1 HG01081.hp2 HG01109.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01261.hp2 HG01358.hp2 HG01361.hp2 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG02027.hp1 HG02056.hp2 HG02071.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp2 HG02148.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02809.hp1 HG02886.hp1 HG02897.hp2 HG02922.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp2 HG03927.hp1 HG04184.hp1 HG04199.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp2 NA18952.hp1 NA18964.hp2 NA18973.hp1 NA18973.hp2 NA18980.hp1 NA18983.hp2 NA18990.hp1 NA18995.hp1 NA19000.hp1 NA19007.hp1 NA19009.hp2 NA19030.hp1 NA19043.hp1 NA19057.hp1 NA19065.hp1 NA19067.hp1 NA19068.hp1 NA19074.hp2 NA19080.hp2 NA19081.hp2 NA19088.hp1 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0002 a0001c0004 a0001c0005 others(10): Show a0001c0002 a0001c0004 a0001c0005 a0001c0012 a0001c0017 a0001c0020 a0001c0022 a0001c0030 a0002c0001 a0002c0024 a0002c0029 a0003c0010 a0006c0025	a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 others(54): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0009 a0001c0002t0010 a0001c0002t0012 a0001c0002t0022 a0001c0002t0025 a0001c0002t0034 a0001c0002t0043 a0001c0002t0071 a0001c0002t0072 a0001c0002t0073 a0001c0002t0074 a0001c0002t0078 a0001c0002t0079 a0001c0002t0081 a0001c0002t0083 a0001c0002t0084 a0001c0002t0085 a0001c0002t0088 a0001c0002t0096 a0001c0004t0004 a0001c0004t0089 a0001c0005t0011 a0001c0005t0047 a0001c0012t0052 a0001c0012t0082 a0001c0012t0095 a0001c0012t0109 a0001c0017t0050 a0001c0020t0012 a0001c0022t0010 a0001c0030t0002 a0002c0001t0001 a0002c0001t0002 a0002c0001t0005 a0002c0001t0006 a0002c0001t0008 a0002c0001t0009 a0002c0001t0019 a0002c0001t0020 a0002c0001t0040 a0002c0001t0042 a0002c0001t0056 a0002c0001t0057 a0002c0001t0059 a0002c0001t0060 a0002c0001t0061 a0002c0001t0063 a0002c0001t0064 a0002c0001t0065 a0002c0001t0077 a0002c0024t0009 a0002c0029t0001 a0003c0010t0001 a0006c0025t0086	a0001c0002t0002g0108 a0001c0002t0002g0123 a0001c0002t0003g0304 others(111): Show a0001c0002t0002g0108 a0001c0002t0002g0123 a0001c0002t0003g0304 a0001c0002t0005g0021 a0001c0002t0005g0022 a0001c0002t0005g0045 a0001c0002t0009g0044 a0001c0002t0010g0118 a0001c0002t0010g0190 a0001c0002t0010g0191 a0001c0002t0012g0028 a0001c0002t0012g0029 a0001c0002t0012g0037 a0001c0002t0012g0098 a0001c0002t0022g0052 a0001c0002t0025g0172 a0001c0002t0034g0040 a0001c0002t0043g0009 a0001c0002t0071g0046 a0001c0002t0072g0173 a0001c0002t0073g0020 a0001c0002t0074g0240 a0001c0002t0078g0246 a0001c0002t0079g0249 a0001c0002t0081g0087 a0001c0002t0083g0041 a0001c0002t0084g0254 a0001c0002t0085g0050 a0001c0002t0088g0093 a0001c0002t0096g0039 a0001c0004t0004g0198 a0001c0004t0004g0199 a0001c0004t0004g0200 a0001c0004t0004g0202 a0001c0004t0089g0057 a0001c0005t0011g0109 a0001c0005t0011g0155 a0001c0005t0047g0065 a0001c0012t0052g0043 a0001c0012t0082g0034 a0001c0012t0095g0237 a0001c0012t0109g0323 a0001c0017t0050g0053 a0001c0020t0012g0056 a0001c0020t0012g0203 a0001c0022t0010g0015 a0001c0030t0002g0259 a0002c0001t0001g0013 a0002c0001t0001g0016 a0002c0001t0001g0017 a0002c0001t0001g0018 a0002c0001t0001g0027 a0002c0001t0001g0030 a0002c0001t0001g0059 a0002c0001t0001g0066 a0002c0001t0001g0113 a0002c0001t0001g0114 a0002c0001t0001g0116 a0002c0001t0001g0121 a0002c0001t0001g0122 a0002c0001t0001g0124 a0002c0001t0001g0125 a0002c0001t0001g0132 a0002c0001t0001g0153 a0002c0001t0001g0186 a0002c0001t0001g0193 a0002c0001t0001g0194 a0002c0001t0001g0195 a0002c0001t0001g0196 a0002c0001t0001g0243 a0002c0001t0001g0248 a0002c0001t0002g0060 a0002c0001t0002g0061 a0002c0001t0002g0062 a0002c0001t0002g0238 a0002c0001t0005g0036 a0002c0001t0005g0054 a0002c0001t0005g0084 a0002c0001t0005g0089 a0002c0001t0006g0063 a0002c0001t0006g0075 a0002c0001t0006g0077 a0002c0001t0006g0079 a0002c0001t0006g0083 a0002c0001t0006g0095 a0002c0001t0008g0074 a0002c0001t0009g0055 a0002c0001t0009g0085 a0002c0001t0009g0086 a0002c0001t0009g0167 a0002c0001t0009g0257 a0002c0001t0019g0090 a0002c0001t0019g0092 a0002c0001t0019g0221 a0002c0001t0019g0239 a0002c0001t0020g0099 a0002c0001t0040g0007 a0002c0001t0042g0008 a0002c0001t0056g0078 a0002c0001t0057g0197 a0002c0001t0059g0042 a0002c0001t0060g0097 a0002c0001t0061g0080 a0002c0001t0063g0209 a0002c0001t0064g0088 a0002c0001t0065g0035 a0002c0001t0077g0073 a0002c0024t0009g0091 a0002c0029t0001g0225 a0003c0010t0001g0117 a0003c0010t0001g0119 a0003c0010t0001g0120 a0003c0010t0001g0255 a0006c0025t0086g0201	114	330	0.3455	38	c.388 others(53): Show c.388-380_388-379insCCCCAGCTCAGACAGGGCCTCCCAGCTCAG ACAGGGTC	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	2/16			chr20	TogoVar
KCNQ2_chr20_63395208_63477655	63445992	A A	ACCCTGTC others(31): Show ACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGG	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0007 a0001c0007t0007	a0001c0007t0007g0227 a0001c0007t0007g0227	1	330	0.0030	38	c.388 others(53): Show c.388-629_388-628insCCTCCCAGCTCAGACAGGGTCCCCCAGCTC AGACAGGG	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	2/16			chr20	TogoVar
KCNQ3_chr8_132115861_132486095	132303565	G G	GATATATA others(31): Show GATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02056.hp1 HG02735.hp2 others(5): Show HG02027.hp2 HG02056.hp1 HG02735.hp2 HG02897.hp1 HG03041.hp2 HG03490.hp2 HG03540.hp1 NA18971.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0009 a0002c0002 a0001c0001 a0001c0009 a0002c0002	a0001c0001t0008 a0001c0001t0011 a0001c0001t0030 others(5): Show a0001c0001t0008 a0001c0001t0011 a0001c0001t0030 a0001c0001t0033 a0001c0001t0084 a0001c0001t0104 a0001c0009t0028 a0002c0002t0001	a0001c0001t0008g0010 a0001c0001t0011g0002 a0001c0001t0030g0160 others(5): Show a0001c0001t0008g0010 a0001c0001t0011g0002 a0001c0001t0030g0160 a0001c0001t0033g0031 a0001c0001t0084g0109 a0001c0001t0104g0162 a0001c0009t0028g0071 a0002c0002t0001g0013	8	176	0.0455	38	c.387 others(59): Show c.387-117385_387-117384insATATATATATATATATATATATAT ATATATATATATAT	KCNQ3	ENSG00000184156.18	transcript	ENST00000388996.10	protein_coding	1/14			chr8	TogoVar
KCNQ5_chr6_72617064_73203853	72852640	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02257.hp1 HG03041.hp1 others(2): Show HG00438.hp2 HG02257.hp1 HG03041.hp1 HG03453.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008	a0001c0001t0032 a0001c0002t0010 a0001c0003t0015 others(2): Show a0001c0001t0032 a0001c0002t0010 a0001c0003t0015 a0001c0003t0033 a0001c0008t0002	a0001c0001t0032g0035 a0001c0002t0010g0052 a0001c0003t0015g0077 others(2): Show a0001c0001t0032g0035 a0001c0002t0010g0052 a0001c0003t0015g0077 a0001c0003t0033g0079 a0001c0008t0002g0050	5	80	0.0625	38	c.399 others(59): Show c.399-151247_399-151246insTATATATATATATATATATATATA TATATATATATATA	KCNQ5	ENSG00000185760.18	transcript	ENST00000370398.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
KCNT1_chr9_135697185_135800502	135731991	T T	TATATAGA others(31): Show TATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02257.hp1 NA18971.hp1 HG01978.hp1 HG02257.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0007 a0001c0004t0001 a0001c0001t0001 a0001c0001t0007 a0001c0004t0001	a0001c0001t0001g0106 a0001c0001t0007g0028 a0001c0004t0001g0134 a0001c0001t0001g0106 a0001c0001t0007g0028 a0001c0004t0001g0134	3	272	0.0110	38	c.254 others(57): Show c.254+17272_254+17273insTATAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGA	KCNT1	ENSG00000107147.14	transcript	ENST00000371757.7	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNT1_chr9_135697185_135800502	135731991	T T	TATATAGA others(31): Show TATATAGAGAGAGAGGGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0030 a0001c0004t0030	a0001c0004t0030g0146 a0001c0004t0030g0146	1	272	0.0037	38	c.254 others(57): Show c.254+17272_254+17273insTATAGAGAGAGAGGGAGAGAGAGAGA GAGAGAGAGAGA	KCNT1	ENSG00000107147.14	transcript	ENST00000371757.7	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNT1_chr9_135697185_135800502	135731991	T T	TATATATA others(31): Show TATATATATATATATATAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	272	0.0037	38	c.254 others(57): Show c.254+17272_254+17273insTATATATATATATATAGAGAGAGAGA GAGAGAGAGAGA	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(31): Show AAAAAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG04115.hp2 HG02647.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0129 a0001c0001t0001g0070 a0001c0001t0001g0129	2	136	0.0147	38	c.269 others(57): Show c.2697+1408_2697+1409insATATATATATATATATATATATTTTT TTTTTTTTTTTT	KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	23/27			chr1	TogoVar
KCTD16_chr5_144165873_144490686	144452146	T T	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03098.hp2 NA19043.hp1 HG03098.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0057 a0001c0001t0026 a0001c0001t0057	a0001c0001t0026g0021 a0001c0001t0057g0005 a0001c0001t0026g0021 a0001c0001t0057g0005	2	156	0.0128	38	c.833 others(57): Show c.833-21495_833-21494insATATATATATATATATATATATATAT ATATATATATAT	KCTD16	ENSG00000183775.11	transcript	ENST00000512467.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
KCTD20_chr6_36438000_36496141	36448015	G G	GTGTATGT others(31): Show GTGTATGTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0030 a0002c0002t0009g0030	1	366	0.0027	38	c.-47 others(55): Show c.-47+4905_-47+4906insGTATGTATATATATATATATATATATAT ATATATATAT	KCTD20	ENSG00000112078.14	transcript	ENST00000373731.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
KCTD4_chr13_45187853_45206045	45191222	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	352	0.0028	38	c.25 others(49): Show c.2565_*2566insATATATATATATATATATATATATATATATATAT ATAT	KCTD4	ENSG00000180332.7	transcript	ENST00000379108.2	protein_coding		1630		chr13	TogoVar
KCTD4_chr13_45187853_45206045	45191224	A A	AAAATATA others(31): Show AAAATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	352	0.0028	38	c.25 others(49): Show c.2563_*2564insATATATATATATATATATATATATATATATATAT ATTT	KCTD4	ENSG00000180332.7	transcript	ENST00000379108.2	protein_coding		1628		chr13	TogoVar
KDELR2_chr7_6456089_6489152	6472282	A A	ACTTGATG others(31): Show ACTTGATGGGCGTTATTTCCACTAAGGCCTTAGCAGCAC	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0290 a0001c0001t0001g0290	1	420	0.0024	38	c.192 others(55): Show c.192+1864_192+1901dupGTGCTGCTAAGGCCTTAGTGGAAATAAC GCCCATCAAG	KDELR2	ENSG00000136240.10	transcript	ENST00000258739.9	protein_coding	2/4			chr7	TogoVar
KDM1B_chr6_18150422_18228854	18208627	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0304 a0001c0001t0004g0304	1	392	0.0026	38	c.186 others(55): Show c.1866+422_1866+423insATATATATATATATATATATATATATAT ATATATTTTT	KDM1B	ENSG00000165097.16	transcript	ENST00000650836.2	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
KDM4B_chr19_4964113_5158598	5043589	G G	GGGGGTGT others(31): Show GGGGGTGTCCACCATATCCTGCGTGGGGTTTATCAGAGT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0009 a0009	a0009c0031 a0009c0031	a0009c0031t0033 a0009c0031t0033	a0009c0031t0033g0058 a0009c0031t0033g0058	1	270	0.0037	38	c.432 others(55): Show c.432+2364_432+2401dupGGTTTATCAGAGTGGGGTGTCCACCATA TCCTGCGTGG	KDM4B	ENSG00000127663.15	transcript	ENST00000159111.9	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr19	TogoVar
KDM4C_chr9_6752973_7180648	6799537	C C	CATGAGAG others(31): Show CATGAGAGGGAGACCGTGGAAAGGGGAGACAGGAGAGGG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03098.hp1 HG02647.hp1 HG03098.hp1	a0001 a0005 a0001 a0005	a0001c0002 a0005c0011 a0001c0002 a0005c0011	a0001c0002t0002 a0005c0011t0001 a0001c0002t0002 a0005c0011t0001	a0001c0002t0002g0197 a0005c0011t0001g0201 a0001c0002t0002g0197 a0005c0011t0001g0201	2	266	0.0075	38	c.145 others(55): Show c.145-6032_145-5995dupAGGAGAGGGATGAGAGGGAGACCGTGGA AAGGGGAGAC	KDM4C	ENSG00000107077.20	transcript	ENST00000381309.8	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
KHDRBS2_chr6_61674961_62291225	61848562	T T	TATATGTA others(31): Show TATATGTATATATATACATATATATATGTATATATATAC	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA19077.hp2 NA18951.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0005 a0001c0004t0005 a0001c0001t0005 a0001c0004t0005	a0001c0001t0005g0060 a0001c0004t0005g0164 a0001c0001t0005g0060 a0001c0004t0005g0164	2	244	0.0082	38	c.810 others(57): Show c.810+46072_810+46073insGTATATATATACATATATATATGTAT ATATATACATAT	KHDRBS2	ENSG00000112232.10	transcript	ENST00000281156.5	protein_coding	6/8			chr6	TogoVar
KHDRBS2_chr6_61674961_62291225	61954513	A A	AATATATA others(31): Show AATATATACACATACATACGTATGTATACATATATATGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp1 HG00558.hp1 others(51): Show HG00099.hp1 HG00423.hp1 HG00558.hp1 HG00738.hp1 HG01099.hp2 HG01516.hp1 HG01517.hp2 HG01928.hp1 HG02040.hp1 HG02080.hp1 HG02080.hp2 HG02155.hp1 HG02257.hp2 HG02523.hp2 HG02738.hp1 HG02886.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03688.hp1 HG03927.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp2 NA18522.hp1 NA18949.hp2 NA18960.hp1 NA18962.hp1 NA18970.hp2 NA18977.hp1 NA18978.hp1 NA18979.hp2 NA18989.hp2 NA18998.hp1 NA19002.hp2 NA19003.hp2 NA19010.hp1 NA19030.hp1 NA19043.hp2 NA19056.hp1 NA19058.hp1 NA19072.hp1 NA19082.hp1 NA19085.hp1 NA19088.hp1 NA19091.hp1 NA20129.hp2 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0004c0010	a0001c0001t0001 a0001c0001t0006 a0001c0002t0002 others(11): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0002 a0001c0002t0004 a0001c0002t0014 a0001c0003t0002 a0001c0003t0004 a0001c0003t0007 a0001c0004t0001 a0001c0004t0005 a0001c0004t0006 a0001c0004t0008 a0001c0008t0001 a0004c0010t0005	a0001c0001t0001g0016 a0001c0001t0006g0223 a0001c0002t0002g0021 others(51): Show a0001c0001t0001g0016 a0001c0001t0006g0223 a0001c0002t0002g0021 a0001c0002t0002g0022 a0001c0002t0002g0107 a0001c0002t0002g0108 a0001c0002t0002g0109 a0001c0002t0002g0112 a0001c0002t0002g0133 a0001c0002t0002g0137 a0001c0002t0002g0145 a0001c0002t0002g0146 a0001c0002t0002g0157 a0001c0002t0004g0179 a0001c0002t0004g0180 a0001c0002t0004g0190 a0001c0002t0004g0193 a0001c0002t0004g0195 a0001c0002t0004g0198 a0001c0002t0004g0199 a0001c0002t0004g0200 a0001c0002t0004g0201 a0001c0002t0004g0202 a0001c0002t0004g0204 a0001c0002t0004g0205 a0001c0002t0004g0207 a0001c0002t0004g0208 a0001c0002t0004g0210 a0001c0002t0004g0213 a0001c0002t0004g0214 a0001c0002t0004g0215 a0001c0002t0004g0216 a0001c0002t0004g0232 a0001c0002t0014g0140 a0001c0003t0002g0004 a0001c0003t0002g0005 a0001c0003t0002g0006 a0001c0003t0002g0011 a0001c0003t0002g0015 a0001c0003t0002g0027 a0001c0003t0002g0038 a0001c0003t0002g0098 a0001c0003t0004g0222 a0001c0003t0004g0228 a0001c0003t0004g0231 a0001c0003t0007g0188 a0001c0004t0001g0110 a0001c0004t0005g0151 a0001c0004t0006g0203 a0001c0004t0008g0233 a0001c0004t0008g0234 a0001c0004t0008g0243 a0001c0008t0001g0069 a0004c0010t0005g0020	54	244	0.2213	38	c.483 others(57): Show c.483+23515_483+23552dupACATATATATGTATACATACGTATGT ATGTGTATATAT	KHDRBS2	ENSG00000112232.10	transcript	ENST00000281156.5	protein_coding	4/8			chr6	TogoVar
KHDRBS2_chr6_61674961_62291225	61954640	A A	ACATACTT others(31): Show ACATACTTATGTATACATATATATGTGTATATACACATG	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG04228.hp1 HG03834.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0012 a0001c0001t0005 a0001c0001t0012	a0001c0001t0005g0024 a0001c0001t0012g0023 a0001c0001t0005g0024 a0001c0001t0012g0023	2	244	0.0082	38	c.483 others(57): Show c.483+23425_483+23426insCATGTGTATATACACATATATATGTA TACATAAGTATG	KHDRBS2	ENSG00000112232.10	transcript	ENST00000281156.5	protein_coding	4/8			chr6	TogoVar
KHDRBS2_chr6_61674961_62291225	61954775	T T	TATGTGTA others(31): Show TATGTGTATATACACATGCATATGTATGTATACATACGC	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp2 HG04199.hp1 HG03491.hp2 HG03492.hp2 HG04199.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0005 a0002c0005t0005 a0001c0001t0005 a0002c0005t0005	a0001c0001t0005g0012 a0002c0005t0005g0009 a0002c0005t0005g0070 a0001c0001t0005g0012 a0002c0005t0005g0009 a0002c0005t0005g0070	3	244	0.0123	38	c.483 others(57): Show c.483+23253_483+23290dupGCGTATGTATACATACATATGCATGT GTATATACACAT	KHDRBS2	ENSG00000112232.10	transcript	ENST00000281156.5	protein_coding	4/8			chr6	TogoVar
KHDRBS2_chr6_61674961_62291225	61954876	G G	GTGTATAT others(31): Show GTGTATATATATGTATATATACACATACATATGTGTGTA	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0150 a0001c0004t0002g0150	1	244	0.0041	38	c.483 others(57): Show c.483+23189_483+23190insTACACACATATGTATGTGTATATATA CATATATATACA	KHDRBS2	ENSG00000112232.10	transcript	ENST00000281156.5	protein_coding	4/8			chr6	TogoVar
KIAA0586_chr14_58422719_58556297	58484890	T T	TTATATAT others(31): Show TTATATATATATATTTATATATATTTTTATATATATATA	intron_variant intron_variant	MODIFIER	HG02129.hp2 NA18957.hp2 NA18978.hp1 others(2): Show HG02129.hp2 NA18957.hp2 NA18978.hp1 NA19062.hp1 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0008 a0002c0002t0001 a0001c0001t0008 a0002c0002t0001	a0001c0001t0008g0018 a0002c0002t0001g0068 a0002c0002t0001g0069 others(2): Show a0001c0001t0008g0018 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0075 a0002c0002t0001g0141	5	300	0.0167	38	c.314 others(57): Show c.3145-2104_3145-2103insTTATATATATTTTTATATATATATAT ATATATATATAT	KIAA0586	ENSG00000100578.18	transcript	ENST00000652326.2	protein_coding	21/30		INFO_REALIGN_3_PRIME	chr14	TogoVar
KIAA0930_chr22_45187244_45245894	45228852	T T	TCACCCCC others(31): Show TCACCCCCGCCATCACCACTCACCCGAAAGATCCCTCTC	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG01361.hp1 others(1): Show HG01257.hp1 HG01258.hp1 HG01361.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0043 a0001c0001t0086 a0001c0001t0020 a0001c0001t0043 a0001c0001t0086	a0001c0001t0020g0353 a0001c0001t0043g0082 a0001c0001t0043g0083 others(1): Show a0001c0001t0020g0353 a0001c0001t0043g0082 a0001c0001t0043g0083 a0001c0001t0086g0081	4	398	0.0101	38	c.64+ others(55): Show c.64+11787_64+11788insGAGAGGGATCTTTCGGGTGAGTGGTGAT GGCGGGGGTG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIAA0930_chr22_45187244_45245894	45229055	A A	ACACTCAC others(31): Show ACACTCACCTGAGAGATCCCTCTCCACCCCCGCCATCAC	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0191 a0001c0001t0014g0191	1	398	0.0025	38	c.64+ others(55): Show c.64+11584_64+11585insGTGATGGCGGGGGTGGAGAGGGATCTCT CAGGTGAGTG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIAA0930_chr22_45187244_45245894	45229081	C C	CCCCCGCC others(31): Show CCCCCGCCACCACCACTCACCCTAAAGATCCCTCCCCAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00558.hp1 HG00735.hp1 others(20): Show HG00280.hp2 HG00558.hp1 HG00735.hp1 HG01070.hp2 HG01978.hp1 HG01978.hp2 HG02015.hp1 HG02257.hp1 HG02922.hp1 HG02976.hp1 HG03209.hp1 HG03704.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 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0015 a0001c0001t0021 a0001c0001t0028 a0001c0001t0029 a0001c0001t0033 a0001c0001t0039 a0001c0001t0042 a0001c0001t0095 a0001c0001t0108 a0001c0001t0110 a0001c0001t0138 a0001c0001t0177 a0001c0003t0175	a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0230 others(20): Show a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0240 a0001c0001t0002g0221 a0001c0001t0002g0235 a0001c0001t0006g0200 a0001c0001t0006g0249 a0001c0001t0015g0224 a0001c0001t0021g0241 a0001c0001t0021g0377 a0001c0001t0028g0242 a0001c0001t0029g0374 a0001c0001t0033g0218 a0001c0001t0039g0225 a0001c0001t0042g0222 a0001c0001t0095g0370 a0001c0001t0108g0379 a0001c0001t0110g0335 a0001c0001t0138g0217 a0001c0001t0177g0376 a0001c0003t0175g0246	23	398	0.0578	38	c.64+ others(55): Show c.64+11558_64+11559insATGGGGAGGGATCTTTAGGGTGAGTGGT GGTGGCGGGG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIAA0930_chr22_45187244_45245894	45229108	G G	GAGATCCC others(31): Show GAGATCCCTCTCCACCCCCGCCACCACCACTCACCCGAA	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0179 a0001c0001t0179	a0001c0001t0179g0340 a0001c0001t0179g0340	1	398	0.0025	38	c.64+ others(55): Show c.64+11531_64+11532insTTCGGGTGAGTGGTGGTGGCGGGGGTGG AGAGGGATCT	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIAA0930_chr22_45187244_45245894	45229128	A A	AACCACCA others(31): Show AACCACCACTCACCTGAGAGATCCCTCCCCATCCCCCCC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0073 a0001c0001t0073	a0001c0001t0073g0323 a0001c0001t0073g0323	1	398	0.0025	38	c.64+ others(55): Show c.64+11511_64+11512insGGGGGGGATGGGGAGGGATCTCTCAGGT GAGTGGTGGT	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIAA1328_chr18_36824127_37230334	36883952	G G	GTATATAT others(31): Show GTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG04204.hp2 HG04228.hp1 others(2): Show HG01081.hp1 HG04204.hp2 HG04228.hp1 NA18971.hp1 NA19066.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0069 others(2): Show a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0069 a0001c0002t0001g0085 a0001c0002t0001g0172	5	200	0.0250	38	c.333 others(55): Show c.333-1587_333-1586insTATATATATATATATATATATATATATA TATATATATA	KIAA1328	ENSG00000150477.15	transcript	ENST00000280020.10	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
KIAA1549L_chr11_33371108_33679102	33435800	A A	ATATATAT others(31): Show ATATATATATATATATATATATATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0034 a0001c0034	a0001c0034t0007 a0001c0034t0007	a0001c0034t0007g0195 a0001c0034t0007g0195	1	226	0.0044	38	c.238 others(57): Show c.238+58922_238+58923insATATATATATATGTGTGTGTGTGTGT GTATATATATAT	KIAA1549L	ENSG00000110427.17	transcript	ENST00000658780.2	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
KIAA1549L_chr11_33371108_33679102	33435800	A A	ATATATGT others(31): Show ATATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0050 a0001c0010t0050	a0001c0010t0050g0120 a0001c0010t0050g0120	1	226	0.0044	38	c.238 others(57): Show c.238+58916_238+58917insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTATAT	KIAA1549L	ENSG00000110427.17	transcript	ENST00000658780.2	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
KIAA1549L_chr11_33371108_33679102	33435810	A A	ATATATGT others(31): Show ATATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0003 a0001c0008t0003	a0001c0008t0003g0004 a0001c0008t0003g0004	1	226	0.0044	38	c.238 others(57): Show c.238+58922_238+58923insATATGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGT	KIAA1549L	ENSG00000110427.17	transcript	ENST00000658780.2	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
KIAA1671_chr22_24947716_25202448	25093824	T T	TTCTCTCT others(31): Show TTCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTG	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0015 a0001c0012t0015	a0001c0012t0015g0113 a0001c0012t0015g0113	1	254	0.0039	38	c.453 others(59): Show c.4530+44469_4530+44470insCTCTCTCTCTCTGTCTCTCTCTCT CTCTGTCTCTCTCT	KIAA1671	ENSG00000197077.14	transcript	ENST00000358431.8	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
KIF13A_chr6_17758693_17992635	17821552	G G	GGTGTGTG others(31): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02027.hp2 HG03195.hp1 others(4): Show HG01361.hp2 HG02027.hp2 HG03195.hp1 NA18959.hp2 NA18960.hp1 NA19074.hp1 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0001c0003 a0001c0008 others(2): Show a0001c0002 a0001c0003 a0001c0008 a0001c0041 a0003c0043	a0001c0002t0002 a0001c0003t0001 a0001c0008t0001 others(2): Show a0001c0002t0002 a0001c0003t0001 a0001c0008t0001 a0001c0041t0001 a0003c0043t0001	a0001c0002t0002g0139 a0001c0002t0002g0199 a0001c0002t0002g0202 others(4): Show a0001c0002t0002g0139 a0001c0002t0002g0199 a0001c0002t0002g0202 a0001c0003t0001g0185 a0001c0008t0001g0148 a0001c0041t0001g0188 a0003c0043t0001g0128	7	282	0.0248	38	c.178 others(57): Show c.1786+4215_1786+4216insACACACACACACACACACACACACAC ACACACACACAC	KIF13A	ENSG00000137177.20	transcript	ENST00000259711.11	protein_coding	16/38			chr6	TogoVar
KIF14_chr1_200546500_200625751	200548793	C C	CACACACA others(31): Show CACACACACACATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 NA19057.hp1 HG02055.hp1 NA19057.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0011c0022 a0001c0001 a0011c0022	a0001c0001t0007 a0011c0022t0025 a0001c0001t0007 a0011c0022t0025	a0001c0001t0007g0034 a0011c0022t0025g0242 a0001c0001t0007g0034 a0011c0022t0025g0242	2	390	0.0051	38	c.45 others(49): Show c.4594_*4595insATATATATATATATATATATATATATATGTGTGT GTGT	KIF14	ENSG00000118193.12	transcript	ENST00000367350.5	protein_coding		2706		chr1	TogoVar
KIF15_chr3_44756794_44858256	44829530	A A	AATATGTA others(31): Show AATATGTATATATTATATATGCATATATTATATATGTAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03139.hp1 HG01884.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0121 a0001c0002t0001g0122	2	232	0.0086	38	c.294 others(55): Show c.2944-421_2944-420insCATATATTATATATGTATATATGTATAT ATTATATATG	KIF15	ENSG00000163808.17	transcript	ENST00000326047.9	protein_coding	24/34		INFO_REALIGN_3_PRIME	chr3	TogoVar
KIF15_chr3_44756794_44858256	44829530	A A	AATATGTA others(31): Show AATATGTATATATTATATATGTATATATTATATATGTAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02258.hp2 HG02280.hp1 others(10): Show HG02109.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02809.hp1 HG02895.hp1 HG02897.hp2 NA20300.hp1 NA21309.hp2	a0001 a0008 a0001 a0008	a0001c0002 a0001c0009 a0008c0011 a0001c0002 a0001c0009 a0008c0011	a0001c0002t0001 a0001c0009t0001 a0008c0011t0001 a0001c0002t0001 a0001c0009t0001 a0008c0011t0001	a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0096 others(10): Show a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0123 a0001c0002t0001g0216 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0009t0001g0099 a0001c0009t0001g0100 a0008c0011t0001g0124 a0008c0011t0001g0227	13	232	0.0560	38	c.294 others(55): Show c.2944-436_2944-399dupGTATATATTATATATGTATATATTATAT ATGTATATAT	KIF15	ENSG00000163808.17	transcript	ENST00000326047.9	protein_coding	24/34		INFO_REALIGN_3_PRIME	chr3	TogoVar
KIF16B_chr20_16267104_16578448	16410031	A A	AGGTACAT others(31): Show AGGTACATATATATATATGTAGGTACATATATATATGTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01261.hp2 others(21): Show HG01069.hp2 HG01071.hp1 HG01261.hp2 HG02015.hp1 HG02027.hp2 HG02083.hp2 HG02683.hp2 HG02809.hp2 NA18906.hp1 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18952.hp1 NA18953.hp2 NA18966.hp2 NA18967.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp1 NA19030.hp1 NA19064.hp1 NA19077.hp2 NA19082.hp2 NA20129.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0008c0020 a0001c0001 a0001c0002 a0008c0020	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(8): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0022 a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 a0008c0020t0010	a0001c0001t0002g0084 a0001c0001t0002g0095 a0001c0001t0002g0127 others(21): Show a0001c0001t0002g0084 a0001c0001t0002g0095 a0001c0001t0002g0127 a0001c0001t0002g0146 a0001c0001t0003g0050 a0001c0001t0003g0074 a0001c0001t0003g0181 a0001c0001t0005g0231 a0001c0001t0010g0242 a0001c0001t0011g0011 a0001c0001t0013g0210 a0001c0001t0013g0213 a0001c0001t0022g0218 a0001c0002t0001g0070 a0001c0002t0002g0020 a0001c0002t0002g0033 a0001c0002t0002g0044 a0001c0002t0002g0072 a0001c0002t0002g0081 a0001c0002t0002g0085 a0001c0002t0002g0099 a0001c0002t0002g0189 a0001c0002t0008g0082 a0008c0020t0010g0244	24	250	0.0960	38	c.161 others(57): Show c.1613-3576_1613-3575insAACATATATATATGTACCTACATATA TATATATGTACC	KIF16B	ENSG00000089177.20	transcript	ENST00000354981.7	protein_coding	15/25			chr20	TogoVar
KIF16B_chr20_16267104_16578448	16410118	T T	TATATATG others(31): Show TATATATGTAGGTACATATATATATGTAGGTACATATAC	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0238 a0002c0003t0004g0238	1	250	0.0040	38	c.161 others(57): Show c.1613-3700_1613-3663dupGTATATGTACCTACATATATATATGT ACCTACATATAT	KIF16B	ENSG00000089177.20	transcript	ENST00000354981.7	protein_coding	15/25			chr20	TogoVar
KIF18B_chr17_44919711_44952773	44951927	C C	CTCTCTCT others(31): Show CTCTCTCTCTCTCTCTCTCTCTATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0105 a0001c0001t0004g0105	1	406	0.0025	38	c.-43 others(49): Show c.-4315_-4314insTATATATATATATATATAGAGAGAGAGAGAGAGA GAGA	KIF18B	ENSG00000186185.14	transcript	ENST00000593135.6	protein_coding		4155		chr17	TogoVar
KIF1A_chr2_240708767_240825219	240780850	A A	ACACACAC others(31): Show ACACACACACACACACACAGCGCCACACACACACAGCTC	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0012 a0001c0004t0012	a0001c0004t0012g0100 a0001c0004t0012g0100	1	330	0.0030	38	c.882 others(55): Show c.882+1739_882+1740insGAGCTGTGTGTGTGTGGCGCTGTGTGTG TGTGTGTGTG	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	10/48			chr2	TogoVar

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