Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
KANK1_chr9_499695_751103	505462	AAGCGGGC others(33): Show AAGCGGGCTGGTCCCCGAATGTTGCGTTTTCTGTGCCGCTT	A A	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0198 a0001c0001t0003g0198	1	254	0.0039	-40	c.-84 others(55): Show c.-84+709_-84+748delAGCGGGCTGGTCCCCGAATGTTGCGTTTTC TGTGCCGCTT	KANK1	ENSG00000107104.21	transcript	ENST00000382297.7	protein_coding	1/11			chr9	TogoVar
KANK4_chr1_62231165_62324434	62278320	TCTTCCTT others(33): Show TCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03654.hp2 HG03491.hp2 HG03654.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0177 a0002c0004t0001g0216 a0002c0004t0001g0177 a0002c0004t0001g0216	2	322	0.0062	-40	c.16+ others(55): Show c.16+3189_16+3228delGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAG	KANK4	ENSG00000132854.19	transcript	ENST00000371153.9	protein_coding	2/9			chr1	TogoVar
KANSL1_chr17_46024916_46198429	46105861	ACCTTCAC others(33): Show ACCTTCACACACACACACACACACACACACACAGAGCAAGG	A A	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0302 a0003c0004t0005g0302	1	321	0.0031	-40	c.129 others(61): Show c.1290-11200_1290-11161delCCTTGCTCTGTGTGTGTGTGTGTG TGTGTGTGTGTGAAGG	KANSL1	ENSG00000120071.15	transcript	ENST00000432791.7	protein_coding	2/14			chr17	TogoVar
KATNAL1_chr13_30197630_30312551	30269768	GTCTGAGA others(33): Show GTCTGAGAAGTGAGGAGCCCCTCCGCCCGGCAGCCGCCCCA	G G	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0087 a0001c0001t0087	a0001c0001t0087g0153 a0001c0001t0087g0153	1	386	0.0026	-40	c.323 others(59): Show c.323+10255_323+10294delTGGGGCGGCTGCCGGGCGGAGGGGCT CCTCACTTCTCAGA	KATNAL1	ENSG00000102781.14	transcript	ENST00000380615.8	protein_coding	3/10			chr13	TogoVar
KATNIP_chr16_27545144_27785344	27661923	TATATATA others(33): Show TATATATATATATATATATATATATATATATATACACATAC	T T	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA18954.hp1 NA18959.hp2 others(2): Show HG03139.hp1 NA18954.hp1 NA18959.hp2 NA19000.hp1 NA19084.hp1	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0012 a0002c0002 a0010c0013 a0001c0012 a0002c0002 a0010c0013	a0001c0012t0002 a0002c0002t0003 a0010c0013t0003 a0001c0012t0002 a0002c0002t0003 a0010c0013t0003	a0001c0012t0002g0143 a0002c0002t0003g0063 a0002c0002t0003g0098 others(2): Show a0001c0012t0002g0143 a0002c0002t0003g0063 a0002c0002t0003g0098 a0010c0013t0003g0061 a0010c0013t0003g0103	5	152	0.0329	-40	c.540 others(59): Show c.540+13212_540+13251delTATATATATACACATACATATATATA TATATATATATATA	KATNIP	ENSG00000047578.14	transcript	ENST00000261588.10	protein_coding	6/27		INFO_REALIGN_3_PRIME	chr16	TogoVar
KATNIP_chr16_27545144_27785344	27718752	CTGCCCAG others(33): Show CTGCCCAGAGCACTAGAAGTTCTTGTAGAGCTGGAGAAACT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01243.hp1 HG01258.hp1 others(4): Show HG00741.hp2 HG01243.hp1 HG01258.hp1 HG02056.hp1 NA18971.hp2 NA19080.hp1 NA19081.hp2	a0005 a0009 a0005 a0009	a0005c0006 a0009c0014 a0005c0006 a0009c0014	a0005c0006t0001 a0009c0014t0001 a0005c0006t0001 a0009c0014t0001	a0005c0006t0001g0013 a0005c0006t0001g0058 a0005c0006t0001g0059 others(4): Show a0005c0006t0001g0013 a0005c0006t0001g0058 a0005c0006t0001g0059 a0005c0006t0001g0064 a0005c0006t0001g0085 a0009c0014t0001g0018 a0009c0014t0001g0043	7	152	0.0461	-40	c.160 others(59): Show c.1606-2801_1606-2762delCAGAGCACTAGAAGTTCTTGTAGAGC TGGAGAAACTTGCC	KATNIP	ENSG00000047578.14	transcript	ENST00000261588.10	protein_coding	13/27		INFO_REALIGN_3_PRIME	chr16	TogoVar
KAZN_chr1_14593685_15123043	14681629	ATATATAT others(33): Show ATATATATATATATATATATATATATATATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0047 a0002c0002t0001g0047	1	146	0.0069	-40	c.226 others(59): Show c.226+82408_226+82447delATATATATATATATATATATATATAT ATTTTTTTTTTTTT	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14681633	ATATATAT others(33): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01167.hp2 HG01106.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0028 a0001c0001t0009 a0001c0001t0028	a0001c0001t0009g0115 a0001c0001t0028g0095 a0001c0001t0009g0115 a0001c0001t0028g0095	2	146	0.0137	-40	c.226 others(59): Show c.226+82412_226+82451delATATATATATATATATATATATATTT TTTTTTTTTTTTTT	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14681635	ATATATAT others(33): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02886.hp1 HG03017.hp1 others(1): Show HG02647.hp2 HG02886.hp1 HG03017.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0006 a0001c0001 a0002c0002 a0002c0006	a0001c0001t0003 a0001c0001t0010 a0002c0002t0001 others(1): Show a0001c0001t0003 a0001c0001t0010 a0002c0002t0001 a0002c0006t0006	a0001c0001t0003g0136 a0001c0001t0010g0040 a0002c0002t0001g0015 others(1): Show a0001c0001t0003g0136 a0001c0001t0010g0040 a0002c0002t0001g0015 a0002c0006t0006g0012	4	146	0.0274	-40	c.226 others(59): Show c.226+82414_226+82453delATATATATATATATATATATATTTTT TTTTTTTTTTTTTT	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14681637	ATATATAT others(33): Show ATATATATATATATATATATATTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02040.hp2 NA18612.hp1 NA18612.hp2 HG02040.hp2 NA18612.hp1 NA18612.hp2	a0002 a0006 a0007 a0002 a0006 a0007	a0002c0002 a0006c0014 a0007c0015 a0002c0002 a0006c0014 a0007c0015	a0002c0002t0001 a0006c0014t0005 a0007c0015t0013 a0002c0002t0001 a0006c0014t0005 a0007c0015t0013	a0002c0002t0001g0024 a0006c0014t0005g0097 a0007c0015t0013g0121 a0002c0002t0001g0024 a0006c0014t0005g0097 a0007c0015t0013g0121	3	146	0.0206	-40	c.226 others(59): Show c.226+82416_226+82455delATATATATATATATATATATTTTTTT TTTTTTTTTTTTTT	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14918687	AAAAAAAA others(33): Show AAAAAAAAAAAAAAAAAAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0018 a0001c0003t0018	a0001c0003t0018g0123 a0001c0003t0018g0123	1	146	0.0069	-40	c.227 others(59): Show c.227-41995_227-41956delAAAAAAAAAAAAAAAAAAAATATATA TATATATATATATA	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14918689	AAAAAAAA others(33): Show AAAAAAAAAAAAAAAAAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0004	1	146	0.0069	-40	c.227 others(59): Show c.227-41993_227-41954delAAAAAAAAAAAAAAAAAATATATATA TATATATATATATA	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14958361	GGTACATG others(33): Show GGTACATGGAGCACTTCTTATATACATGGAGCACTTCCTGT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp1 HG00642.hp2 others(20): Show HG00099.hp1 HG00438.hp1 HG00642.hp2 HG00735.hp2 HG01099.hp1 HG01516.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02083.hp1 HG02083.hp2 HG02451.hp2 HG02523.hp2 HG02602.hp2 HG02622.hp2 HG02976.hp1 NA18612.hp2 NA18963.hp1 NA18970.hp1 NA19005.hp1 NA19079.hp1 NA20300.hp2 NA20752.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0006 a0007	a0001c0001 a0002c0002 a0004c0009 others(3): Show a0001c0001 a0002c0002 a0004c0009 a0005c0016 a0006c0014 a0007c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0001t0017 a0002c0002t0001 a0002c0002t0005 a0002c0002t0012 a0004c0009t0001 a0005c0016t0002 a0006c0014t0005 a0007c0015t0013	a0001c0001t0001g0068 a0001c0001t0001g0075 a0001c0001t0002g0101 others(20): Show a0001c0001t0001g0068 a0001c0001t0001g0075 a0001c0001t0002g0101 a0001c0001t0002g0103 a0001c0001t0002g0109 a0001c0001t0003g0005 a0001c0001t0004g0064 a0001c0001t0011g0118 a0001c0001t0017g0023 a0002c0002t0001g0011 a0002c0002t0001g0031 a0002c0002t0001g0071 a0002c0002t0001g0078 a0002c0002t0001g0081 a0002c0002t0001g0108 a0002c0002t0001g0116 a0002c0002t0001g0143 a0002c0002t0005g0037 a0002c0002t0012g0098 a0004c0009t0001g0034 a0005c0016t0002g0022 a0006c0014t0005g0097 a0007c0015t0013g0121	23	146	0.1575	-40	c.227 others(57): Show c.227-2306_227-2267delTTATATACATGGAGCACTTCCTGTGTAC ATGGAGCACTTC	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	15050024	AGTAGGGT others(33): Show AGTAGGGTAGGGTAGGGTAGGGTAGGGTAGGGTAGGGTAGG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0094 a0001c0003t0004g0094	1	146	0.0069	-40	c.726 others(57): Show c.726+5870_726+5909delGGTAGGGTAGGGTAGGGTAGGGTAGGGT AGGGTAGGGTAG	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNC3_chr19_50306937_50334377	50324770	TGTTAGGG others(33): Show TGTTAGGGTATGCAGGCAGCAGTTAGTTGGGGGGCAAGGTC	T T	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0161 a0001c0002t0001g0161	1	380	0.0026	-40	c.871 others(55): Show c.871-728_871-689delGACCTTGCCCCCCAACTAACTGCTGCCTGC ATACCCTAAC	KCNC3	ENSG00000131398.15	transcript	ENST00000477616.2	protein_coding	1/4			chr19	TogoVar
KCNC3_chr19_50306937_50334377	50331494	TCTTCTTC others(33): Show TCTTCTTCCCCTTCTCCCCATCTCTGGTGTATTTCCCCCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG01069.hp2 HG01070.hp2 others(37): Show HG00733.hp2 HG01069.hp2 HG01070.hp2 HG01109.hp1 HG01255.hp2 HG02055.hp2 HG02109.hp1 HG02145.hp2 HG02280.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp2 HG03209.hp2 HG03471.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03710.hp1 HG04115.hp1 HG04115.hp2 HG04228.hp1 NA18954.hp2 NA19043.hp2 NA19085.hp1	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0001c0008 a0001c0020 others(2): Show a0001c0001 a0001c0008 a0001c0020 a0002c0003 a0011c0023	a0001c0001t0002 a0001c0001t0008 a0001c0001t0012 others(22): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0012 a0001c0001t0015 a0001c0001t0019 a0001c0001t0022 a0001c0001t0026 a0001c0001t0028 a0001c0001t0032 a0001c0001t0033 a0001c0001t0037 a0001c0001t0042 a0001c0001t0043 a0001c0001t0076 a0001c0001t0084 a0001c0001t0089 a0001c0001t0093 a0001c0001t0107 a0001c0001t0108 a0001c0008t0033 a0001c0008t0087 a0001c0020t0096 a0002c0003t0002 a0002c0003t0022 a0011c0023t0002	a0001c0001t0002g0018 a0001c0001t0002g0061 a0001c0001t0002g0062 others(30): Show a0001c0001t0002g0018 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0008g0063 a0001c0001t0008g0068 a0001c0001t0008g0259 a0001c0001t0012g0019 a0001c0001t0012g0066 a0001c0001t0012g0074 a0001c0001t0015g0016 a0001c0001t0015g0266 a0001c0001t0019g0072 a0001c0001t0022g0012 a0001c0001t0026g0073 a0001c0001t0028g0261 a0001c0001t0032g0262 a0001c0001t0033g0268 a0001c0001t0037g0069 a0001c0001t0042g0064 a0001c0001t0042g0067 a0001c0001t0043g0027 a0001c0001t0076g0267 a0001c0001t0084g0097 a0001c0001t0089g0077 a0001c0001t0093g0144 a0001c0001t0107g0071 a0001c0001t0108g0145 a0001c0008t0033g0265 a0001c0008t0087g0264 a0001c0020t0096g0263 a0002c0003t0002g0065 a0002c0003t0022g0143 a0011c0023t0002g0070	40	380	0.1053	-40	c.-24 others(51): Show c.-2452_-2413delGAGGGGGAAATACACCAGAGATGGGGAGAAGGGG AAGAAG	KCNC3	ENSG00000131398.15	transcript	ENST00000477616.2	protein_coding		2118		chr19	TogoVar
KCNH1_chr1_210673314_211139148	211112325	GGTCTGGG others(33): Show GGTCTGGGAAGCGAGGAGTGCCTCTGCTTGGCCGCCCCACC	G G	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0091 a0001c0001t0003g0091	1	164	0.0061	-40	c.80- others(55): Show c.80-4988_80-4949delGGTGGGGCGGCCAAGCAGAGGCACTCCTCG CTTCCCAGAC	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	1/10			chr1	TogoVar
KCNH2_chr7_150939961_150983321	150978891	AACACACA others(33): Show AACACACACACACACACACACACACACACACACACACACAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00423.hp2 HG00609.hp1 others(60): Show HG00323.hp1 HG00423.hp2 HG00609.hp1 HG01099.hp2 HG01515.hp1 HG01884.hp2 HG02015.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02273.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02735.hp1 HG02809.hp2 HG02818.hp2 HG03017.hp2 HG03098.hp1 HG03195.hp1 HG03453.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03579.hp1 HG03654.hp2 HG03688.hp2 HG03834.hp2 HG06807.hp2 NA18747.hp1 NA18952.hp2 NA18959.hp1 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18979.hp1 NA18979.hp2 NA18989.hp1 NA18994.hp1 NA19003.hp1 NA19005.hp2 NA19010.hp1 NA19043.hp2 NA19056.hp1 NA19062.hp1 NA19066.hp1 NA19066.hp2 NA19080.hp2 NA19085.hp1 NA19088.hp2 NA19089.hp1 NA19090.hp1 NA20752.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0010 a0001c0014 a0001c0021 a0002c0004 a0006c0016	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0003t0001 a0001c0007t0001 a0001c0010t0001 a0001c0014t0001 a0001c0021t0001 a0002c0004t0001 a0006c0016t0001	a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0028 others(53): Show a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0174 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0205 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0218 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0235 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0281 a0001c0001t0003g0029 a0001c0001t0003g0105 a0001c0001t0003g0185 a0001c0002t0001g0033 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0112 a0001c0002t0001g0129 a0001c0002t0001g0172 a0001c0002t0001g0202 a0001c0002t0001g0226 a0001c0002t0001g0229 a0001c0002t0001g0277 a0001c0002t0001g0279 a0001c0003t0001g0197 a0001c0003t0001g0212 a0001c0003t0001g0219 a0001c0007t0001g0130 a0001c0010t0001g0044 a0001c0014t0001g0195 a0001c0021t0001g0280 a0002c0004t0001g0134 a0002c0004t0001g0221 a0006c0016t0001g0201	63	358	0.1760	-40	c.-10 others(50): Show c.-1018_-979delATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGT	KCNH2	ENSG00000055118.17	transcript	ENST00000262186.10	protein_coding		571		chr7	TogoVar
KCNH5_chr14_62694464_63050458	63039346	TATTTAAT others(33): Show TATTTAATTTTTAAAATTTGGGTAAAAATAAAATACTAGGA	T T	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0115 a0001c0001t0002g0115	1	224	0.0045	-40	c.73+ others(55): Show c.73+5728_73+5767delTCCTAGTATTTTATTTTTACCCAAATTTTA AAAATTAAAT	KCNH5	ENSG00000140015.20	transcript	ENST00000322893.12	protein_coding	1/10			chr14	TogoVar
KCNH7_chr2_162366407_162843767	162470423	ACGCCCGG others(33): Show ACGCCCGGCAGCCGCCCCGTCTGAGAAGTGAGGAGCCCCTC	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01106.hp2 HG01496.hp2 others(9): Show HG00621.hp1 HG01106.hp2 HG01496.hp2 HG02523.hp1 NA18959.hp1 NA18965.hp2 NA18970.hp2 NA18975.hp1 NA18982.hp1 NA19004.hp2 NA19074.hp2 NA19084.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0001 a0001c0003t0003 a0001c0005t0001 a0001c0003t0001 a0001c0003t0003 a0001c0005t0001	a0001c0003t0001g0018 a0001c0003t0001g0028 a0001c0003t0001g0054 others(9): Show a0001c0003t0001g0018 a0001c0003t0001g0028 a0001c0003t0001g0054 a0001c0003t0001g0056 a0001c0003t0001g0064 a0001c0003t0001g0065 a0001c0003t0001g0089 a0001c0003t0001g0093 a0001c0003t0001g0096 a0001c0003t0001g0097 a0001c0003t0003g0100 a0001c0005t0001g0086	12	100	0.1200	-40	c.112 others(61): Show c.1129-24020_1129-23981delGAGGGGCTCCTCACTTCTCAGACG GGGCGGCTGCCGGGCG	KCNH7	ENSG00000184611.14	transcript	ENST00000332142.10	protein_coding	6/15			chr2	TogoVar
KCNH7_chr2_162366407_162843767	162752903	AAAAAGAA others(33): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0079 a0003c0004t0001g0079	1	100	0.0100	-40	c.307 others(59): Show c.307+83594_307+83633delCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTT	KCNH7	ENSG00000184611.14	transcript	ENST00000332142.10	protein_coding	2/15			chr2	TogoVar
KCNH8_chr3_19143510_19540642	19274842	ACCCCTCC others(33): Show ACCCCTCCCCTCCCCTCCCCACCCCTCCCCTCCCCACCCCT	A A	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02074.hp1 HG02523.hp1 others(1): Show HG02071.hp2 HG02074.hp1 HG02523.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0065 a0001c0001t0002g0081 a0001c0001t0002g0115 others(1): Show a0001c0001t0001g0065 a0001c0001t0002g0081 a0001c0001t0002g0115 a0001c0001t0002g0117	4	134	0.0299	-40	c.311 others(57): Show c.311-6345_311-6306delCCCCTCCCCACCCCTCCCCTCCCCACCC CTCCCCTCCCCT	KCNH8	ENSG00000183960.9	transcript	ENST00000328405.7	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNIP1_chr5_170499020_170741632	170599624	GATGGACC others(33): Show GATGGACCTAGGGGTGGGGAAGAGCGAGAAGTTCCCGTGCA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00609.hp1 HG00609.hp2 others(101): Show HG00280.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG01074.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01943.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp2 HG02071.hp2 HG02074.hp2 HG02109.hp2 HG02145.hp2 HG02155.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03831.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18941.hp1 NA18950.hp1 NA18951.hp1 NA18961.hp1 NA18971.hp1 NA18971.hp2 NA18977.hp1 NA18985.hp2 NA18997.hp2 NA19002.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp2 NA19056.hp2 NA19070.hp1 NA19081.hp2 NA19091.hp2 NA19240.hp2 NA20300.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0003t0003	a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0019 others(101): Show a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0073 a0001c0001t0001g0080 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0101 a0001c0001t0001g0123 a0001c0001t0001g0128 a0001c0001t0001g0135 a0001c0001t0001g0146 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0169 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0209 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0021 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0061 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0081 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0114 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0127 a0001c0001t0002g0132 a0001c0001t0002g0166 a0001c0001t0002g0170 a0001c0001t0002g0191 a0001c0001t0002g0217 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0025 a0001c0001t0003g0074 a0001c0001t0003g0076 a0001c0001t0003g0083 a0001c0001t0003g0098 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0120 a0001c0001t0003g0124 a0001c0001t0003g0133 a0001c0001t0003g0138 a0001c0001t0003g0155 a0001c0001t0003g0157 a0001c0001t0003g0163 a0001c0001t0003g0198 a0001c0001t0003g0201 a0001c0001t0003g0204 a0001c0001t0003g0207 a0001c0001t0004g0034 a0001c0001t0004g0036 a0001c0001t0004g0044 a0001c0001t0004g0045 a0001c0001t0004g0049 a0001c0001t0005g0033 a0001c0001t0005g0040 a0001c0001t0005g0048 a0001c0001t0006g0125 a0001c0001t0006g0126 a0001c0001t0008g0070 a0001c0001t0009g0001 a0001c0001t0009g0002 a0001c0001t0009g0005 a0001c0001t0010g0017 a0001c0001t0010g0018 a0001c0001t0011g0032 a0001c0001t0011g0050 a0001c0001t0012g0003 a0001c0001t0013g0024 a0001c0001t0014g0014 a0001c0001t0015g0015 a0001c0001t0016g0016 a0001c0001t0017g0078 a0001c0001t0018g0054 a0001c0001t0019g0035 a0001c0001t0022g0100 a0001c0001t0023g0105 a0001c0001t0024g0195 a0001c0001t0025g0094 a0001c0001t0026g0106 a0001c0003t0003g0013	104	218	0.4771	-40	c.61+ others(57): Show c.61+95023_61+95062delTCCCGTGCAATGGACCTAGGGGTGGGGA AGAGCGAGAAGT	KCNIP1	ENSG00000182132.15	transcript	ENST00000328939.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
KCNIP1_chr5_170499020_170741632	170633699	AGGGGGCG others(33): Show AGGGGGCGAGGGGGCGGGGGGGCGGAGGGGGGGACGGAGGG	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 NA18522.hp1 HG02630.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0003 a0001c0001t0009	a0001c0001t0003g0138 a0001c0001t0009g0002 a0001c0001t0003g0138 a0001c0001t0009g0002	2	218	0.0092	-40	c.62- others(57): Show c.62-85051_62-85012delAGGGGGCGGGGGGGCGGAGGGGGGGACG GAGGGGGGGGCG	KCNIP1	ENSG00000182132.15	transcript	ENST00000328939.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
KCNIP4_chr4_20723606_21953772	21400512	CCTCTTCT others(33): Show CCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0073 a0001c0002t0001g0073	1	80	0.0125	-40	c.62- others(59): Show c.62-517843_62-517804delAAGAGAAGAGAAGAGAAGAGAAGAGA AGAGAAGAGAAGAG	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21528748	AAAGAAAG others(33): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGAAAGG	A A	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0011 a0001c0002t0002g0011	1	80	0.0125	-40	c.61+ others(59): Show c.61+419783_61+419822delCCTTTCTTCCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTT	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21528756	AAAGAAAG others(33): Show AAAGAAAGAAAGAAAGAAAGAAAGGAAGAAAGGAAGAAAGG	A A	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	80	0.0125	-40	c.61+ others(59): Show c.61+419775_61+419814delCCTTTCTTCCTTTCTTCCTTTCTTTC TTTCTTTCTTTCTT	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21528764	AAAGAAAG others(33): Show AAAGAAAGAAAGAAAGGAAGAAAGGAAGAAAGGAAGAAAGG	A A	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0018 a0001c0001t0003g0018	1	80	0.0125	-40	c.61+ others(59): Show c.61+419767_61+419806delCCTTTCTTCCTTTCTTCCTTTCTTCC TTTCTTTCTTTCTT	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21528768	AAAGAAAG others(33): Show AAAGAAAGAAAGGAAGAAAGGAAGAAAGGAAGAAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02300.hp1 HG02055.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0008 a0001c0001t0006 a0001c0002t0008	a0001c0001t0006g0078 a0001c0002t0008g0047 a0001c0001t0006g0078 a0001c0002t0008g0047	2	80	0.0250	-40	c.61+ others(59): Show c.61+419763_61+419802delCCTTCCTTTCTTCCTTTCTTCCTTTC TTCCTTTCTTTCTT	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNMA1_chr10_76879882_77642808	77573632	GGAATGGA others(33): Show GGAATGGAATGGAATAGAATAGAATAGAATAGAATAGAATA	G G	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03516.hp2 NA21309.hp1 HG02970.hp1 HG03516.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0001 a0001c0001t0003 a0001c0001t0006	a0001c0001t0001g0027 a0001c0001t0003g0029 a0001c0001t0006g0061 a0001c0001t0001g0027 a0001c0001t0003g0029 a0001c0001t0006g0061	3	106	0.0283	-40	c.378 others(59): Show c.378+63593_378+63632delTATTCTATTCTATTCTATTCTATTCT ATTCCATTCCATTC	KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	1/27			chr10	TogoVar
KCNMB2_chr3_178531436_178849429	178757720	GTATATAT others(33): Show GTATATATATCCAAGAGGATATATATATATAAGAGGATATA	G G	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01515.hp1 HG01952.hp1 others(6): Show HG01358.hp1 HG01515.hp1 HG01952.hp1 HG01975.hp2 HG03017.hp1 HG03017.hp2 HG03710.hp1 NA18941.hp2 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001	a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0130 others(6): Show a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0130 a0001c0001t0003g0177 a0001c0001t0004g0007 a0001c0001t0004g0181 a0001c0002t0001g0060 a0001c0002t0001g0079 a0001c0002t0001g0196	9	232	0.0388	-40	c.-67 others(59): Show c.-67-49596_-67-49557delTATAAGAGGATATATATATATATCCA AGAGGATATATATA	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758003	ATATATAT others(33): Show ATATATATATATATATATCTAGAGGATATATATATATATCT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02145.hp1 HG02280.hp1 others(10): Show HG00639.hp2 HG02145.hp1 HG02280.hp1 HG02630.hp1 HG02809.hp2 HG02976.hp2 HG03471.hp2 HG03490.hp2 HG03492.hp2 HG03942.hp1 NA18906.hp1 NA18963.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0002t0008	a0001c0001t0002g0089 a0001c0001t0002g0117 a0001c0001t0002g0209 others(10): Show a0001c0001t0002g0089 a0001c0001t0002g0117 a0001c0001t0002g0209 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0004g0103 a0001c0001t0004g0104 a0001c0001t0004g0109 a0001c0002t0001g0134 a0001c0002t0001g0165 a0001c0002t0008g0018	13	232	0.0560	-40	c.-67 others(59): Show c.-67-49339_-67-49300delTATATATATATATATATCTAGAGGAT ATATATATATATCT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4			chr3	TogoVar
KCNN3_chr1_154692455_154875281	154702709	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATATATATG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0107 a0001c0001t0107	a0001c0001t0107g0107 a0001c0001t0107g0107	1	238	0.0042	-40	c.52 others(51): Show c.5227_*5266delCATATATATATATATATATATATATATATATATA TATATA	KCNN3	ENSG00000143603.19	transcript	ENST00000271915.9	protein_coding	8/8	5227		chr1	TogoVar
KCNQ2_chr20_63395208_63477655	63398979	TGGGTGCC others(33): Show TGGGTGCCCACGGGGAGGAGTGGGTGCCCACAGGGAGGAGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0074 a0001c0002t0074	a0001c0002t0074g0240 a0001c0002t0074g0240	1	330	0.0030	-40	c.76 others(51): Show c.7625_*7664delGCTCCTCCCTGTGGGCACCCACTCCTCCCCGTGG GCACCC	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding		1228		chr20	TogoVar
KCNQ2_chr20_63395208_63477655	63415360	AGGGGAGG others(33): Show AGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGG	A A	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA19005.hp1 NA18979.hp2 NA19005.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0006 a0001c0003 a0002c0006	a0001c0003t0003 a0002c0006t0016 a0001c0003t0003 a0002c0006t0016	a0001c0003t0003g0265 a0002c0006t0016g0272 a0001c0003t0003g0265 a0002c0006t0016g0272	2	330	0.0061	-40	c.130 others(57): Show c.1302-274_1302-235delCCCTCCCTCCCGCCGGGTGCTCGGTCCC CGTGGCCTCCCC	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	12/16			chr20	TogoVar
KCNQ2_chr20_63395208_63477655	63415376	ACCGAGCA others(33): Show ACCGAGCACCCGGCGGGAGGGAGGGGGGGAGGCTACCGGGG	A A	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0052 a0001c0012t0052	a0001c0012t0052g0043 a0001c0012t0052g0043	1	330	0.0030	-40	c.130 others(57): Show c.1302-290_1302-251delCCCCGGTAGCCTCCCCCCCTCCCTCCCG CCGGGTGCTCGG	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	12/16			chr20	TogoVar
KCNQ5_chr6_72617064_73203853	72941666	CTCTTTCT others(33): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00741.hp1 HG01099.hp2 others(16): Show HG00597.hp2 HG00741.hp1 HG01099.hp2 HG02055.hp1 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02293.hp2 HG02451.hp1 HG02559.hp1 HG02809.hp2 HG02895.hp1 HG02970.hp1 HG03098.hp1 HG03453.hp2 HG03516.hp2 HG03834.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007	a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 others(12): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0018 a0001c0001t0028 a0001c0001t0032 a0001c0001t0038 a0001c0002t0001 a0001c0002t0010 a0001c0002t0021 a0001c0003t0009 a0001c0007t0019	a0001c0001t0003g0015 a0001c0001t0003g0069 a0001c0001t0004g0034 others(16): Show a0001c0001t0003g0015 a0001c0001t0003g0069 a0001c0001t0004g0034 a0001c0001t0004g0045 a0001c0001t0004g0061 a0001c0001t0007g0016 a0001c0001t0007g0025 a0001c0001t0008g0060 a0001c0001t0009g0037 a0001c0001t0012g0068 a0001c0001t0018g0066 a0001c0001t0028g0049 a0001c0001t0032g0035 a0001c0001t0038g0021 a0001c0002t0001g0002 a0001c0002t0010g0028 a0001c0002t0021g0038 a0001c0003t0009g0080 a0001c0007t0019g0001	19	80	0.2375	-40	c.399 others(59): Show c.399-62196_399-62157delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTT	KCNQ5	ENSG00000185760.18	transcript	ENST00000370398.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
KCNRG_chr13_50010444_50025922	50015086	AAAAAAAA others(33): Show AAAAAAAAAATATATATATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	448	0.0022	-40	c.-40 others(49): Show c.-407_-368delAAAAAAAAATATATATATATATATATATATATATAT ATAT	KCNRG	ENSG00000198553.9	transcript	ENST00000312942.2	protein_coding		357		chr13	TogoVar
KCNRG_chr13_50010444_50025922	50015094	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	448	0.0022	-40	c.-39 others(49): Show c.-399_-360delATATATATATATATATATATATATATATATATATAT ATAT	KCNRG	ENSG00000198553.9	transcript	ENST00000312942.2	protein_coding		349		chr13	TogoVar
KCNT1_chr9_135697185_135800502	135769103	GTGTGCAC others(33): Show GTGTGCACACGTGGGTGTCGGTGCGTCTGGGGCAGGGCGCA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00609.hp2 HG00741.hp2 others(35): Show HG00140.hp1 HG00609.hp2 HG00741.hp2 HG01167.hp2 HG01358.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01993.hp2 HG02015.hp2 HG02080.hp1 HG02080.hp2 HG02280.hp2 HG02486.hp1 HG02717.hp2 HG02723.hp1 HG02897.hp2 HG02922.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03704.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18943.hp1 NA19065.hp2 NA19068.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0001c0004 a0001c0009 others(3): Show a0001c0002 a0001c0004 a0001c0009 a0001c0014 a0001c0016 a0004c0017	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(19): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0009 a0001c0002t0034 a0001c0002t0035 a0001c0002t0040 a0001c0004t0001 a0001c0004t0004 a0001c0004t0008 a0001c0004t0012 a0001c0004t0014 a0001c0004t0020 a0001c0004t0030 a0001c0009t0006 a0001c0009t0018 a0001c0014t0017 a0001c0016t0019 a0004c0017t0004	a0001c0002t0001g0094 a0001c0002t0001g0121 a0001c0002t0001g0184 others(35): Show a0001c0002t0001g0094 a0001c0002t0001g0121 a0001c0002t0001g0184 a0001c0002t0001g0205 a0001c0002t0001g0229 a0001c0002t0001g0231 a0001c0002t0002g0219 a0001c0002t0003g0120 a0001c0002t0004g0137 a0001c0002t0004g0257 a0001c0002t0005g0079 a0001c0002t0005g0081 a0001c0002t0005g0220 a0001c0002t0005g0270 a0001c0002t0006g0054 a0001c0002t0009g0047 a0001c0002t0034g0179 a0001c0002t0035g0109 a0001c0002t0040g0160 a0001c0004t0001g0195 a0001c0004t0001g0209 a0001c0004t0004g0003 a0001c0004t0004g0025 a0001c0004t0004g0224 a0001c0004t0004g0255 a0001c0004t0004g0256 a0001c0004t0004g0258 a0001c0004t0008g0203 a0001c0004t0012g0225 a0001c0004t0012g0226 a0001c0004t0014g0002 a0001c0004t0020g0215 a0001c0004t0030g0146 a0001c0009t0006g0159 a0001c0009t0018g0162 a0001c0014t0017g0212 a0001c0016t0019g0116 a0004c0017t0004g0223	38	272	0.1397	-40	c.151 others(57): Show c.1510+183_1510+222delTCGGTGCGTCTGGGGCAGGGCGCATGTG CACACGTGGGTG	KCNT1	ENSG00000107147.14	transcript	ENST00000371757.7	protein_coding	15/30		INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNT1_chr9_135697185_135800502	135769120	TCGGTGCG others(33): Show TCGGTGCGTCTGGGGCAGGGCGCATGTGCACACGTGGGTGA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00741.hp1 HG01074.hp1 others(28): Show HG00099.hp1 HG00741.hp1 HG01074.hp1 HG01099.hp1 HG01168.hp2 HG01243.hp1 HG01346.hp2 HG01952.hp1 HG02451.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02647.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02976.hp2 HG03486.hp1 HG03492.hp2 HG03540.hp1 HG03688.hp1 HG03927.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp2 NA18522.hp2 NA19043.hp1 NA19240.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0020 a0008c0012	a0001c0001t0001 a0001c0001t0003 a0001c0001t0016 others(12): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0016 a0001c0001t0038 a0001c0001t0039 a0001c0002t0001 a0001c0003t0001 a0001c0003t0003 a0001c0003t0006 a0001c0003t0008 a0001c0004t0001 a0001c0004t0007 a0001c0004t0037 a0001c0020t0017 a0008c0012t0003	a0001c0001t0001g0019 a0001c0001t0001g0057 a0001c0001t0001g0122 others(28): Show a0001c0001t0001g0019 a0001c0001t0001g0057 a0001c0001t0001g0122 a0001c0001t0001g0128 a0001c0001t0001g0191 a0001c0001t0001g0202 a0001c0001t0001g0242 a0001c0001t0003g0016 a0001c0001t0003g0168 a0001c0001t0003g0218 a0001c0001t0003g0222 a0001c0001t0003g0243 a0001c0001t0003g0245 a0001c0001t0016g0102 a0001c0001t0038g0100 a0001c0001t0039g0156 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0154 a0001c0003t0001g0267 a0001c0003t0003g0058 a0001c0003t0003g0059 a0001c0003t0006g0117 a0001c0003t0008g0043 a0001c0004t0001g0005 a0001c0004t0001g0007 a0001c0004t0001g0092 a0001c0004t0007g0006 a0001c0004t0037g0004 a0001c0020t0017g0001 a0008c0012t0003g0241	31	272	0.1140	-40	c.151 others(57): Show c.1510+206_1510+245delATGTGCACACGTGGGTGACGGTGCGTCT GGGGCAGGGCGC	KCNT1	ENSG00000107147.14	transcript	ENST00000371757.7	protein_coding	15/30		INFO_REALIGN_3_PRIME	chr9	TogoVar
KCTD8_chr4_44168903_44453809	44181875	TGTGAGGA others(33): Show TGTGAGGAGCCCCTCCGCCTGGCAGCCGCCCCATCTGAGAA	T T	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0003 a0003c0005t0003	a0003c0005t0003g0006 a0003c0005t0003g0006	1	294	0.0034	-40	c.962 others(57): Show c.962-6665_962-6626delTTCTCAGATGGGGCGGCTGCCAGGCGGA GGGGCTCCTCAC	KCTD8	ENSG00000183783.7	transcript	ENST00000360029.4	protein_coding	1/1			chr4	TogoVar
KCTD8_chr4_44168903_44453809	44181907	ATCTGAGA others(33): Show ATCTGAGAAGTGAGGAGCCCCTCCACCCGGCAGCCGCCCCC	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01123.hp2 HG01175.hp2 others(2): Show HG00642.hp2 HG01123.hp2 HG01175.hp2 HG02717.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0061 a0001c0001t0003g0132 a0001c0001t0003g0196 others(2): Show a0001c0001t0003g0061 a0001c0001t0003g0132 a0001c0001t0003g0196 a0001c0001t0003g0235 a0001c0001t0003g0275	5	294	0.0170	-40	c.962 others(57): Show c.962-6697_962-6658delGGGGGCGGCTGCCGGGTGGAGGGGCTCC TCACTTCTCAGA	KCTD8	ENSG00000183783.7	transcript	ENST00000360029.4	protein_coding	1/1			chr4	TogoVar
KDM1A_chr1_23014468_23088689	23017177	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00735.hp2 NA18991.hp1 HG00639.hp1 HG00735.hp2 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0120 a0001c0001t0003g0095 a0001c0001t0003g0226 a0001c0001t0001g0120 a0001c0001t0003g0095 a0001c0001t0003g0226	3	352	0.0085	-40	c.-24 others(51): Show c.-2419_-2380delTATATATATATATATATATATATATATATATATA TATATA	KDM1A	ENSG00000004487.18	transcript	ENST00000400181.9	protein_coding		2290		chr1	TogoVar
KDM4C_chr9_6752973_7180648	6798969	TGGCCGGG others(33): Show TGGCCGGGCAGAGACGCTCCTCACTTCCTAGATGGGATGGC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01167.hp1 HG01169.hp1 others(20): Show HG00280.hp2 HG01167.hp1 HG01169.hp1 HG01361.hp1 HG01978.hp1 HG01981.hp2 HG02055.hp1 HG02109.hp2 HG02486.hp2 HG02572.hp1 HG02602.hp1 HG02723.hp1 HG02922.hp1 HG02976.hp1 HG03130.hp1 HG03139.hp1 HG03471.hp1 HG03486.hp2 HG03516.hp1 HG03579.hp1 HG03669.hp1 HG03710.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0006 a0007 a0010 a0011 a0012 a0013 a0014 a0017 a0026	a0001c0001 a0001c0002 a0001c0027 others(14): Show a0001c0001 a0001c0002 a0001c0027 a0002c0003 a0002c0008 a0003c0004 a0003c0007 a0003c0069 a0006c0009 a0007c0034 a0010c0015 a0011c0016 a0012c0013 a0013c0025 a0014c0014 a0017c0026 a0026c0033	a0001c0001t0002 a0001c0001t0006 a0001c0002t0003 others(18): Show a0001c0001t0002 a0001c0001t0006 a0001c0002t0003 a0001c0002t0006 a0001c0027t0015 a0002c0003t0003 a0002c0008t0001 a0003c0004t0001 a0003c0004t0003 a0003c0007t0001 a0003c0069t0001 a0006c0009t0003 a0007c0034t0001 a0010c0015t0001 a0011c0016t0003 a0012c0013t0003 a0012c0013t0009 a0013c0025t0009 a0014c0014t0001 a0017c0026t0002 a0026c0033t0001	a0001c0001t0002g0184 a0001c0001t0006g0260 a0001c0002t0003g0258 others(20): Show a0001c0001t0002g0184 a0001c0001t0006g0260 a0001c0002t0003g0258 a0001c0002t0006g0252 a0001c0027t0015g0261 a0002c0003t0003g0251 a0002c0008t0001g0186 a0002c0008t0001g0194 a0003c0004t0001g0200 a0003c0004t0003g0262 a0003c0007t0001g0183 a0003c0007t0001g0185 a0003c0069t0001g0130 a0006c0009t0003g0254 a0007c0034t0001g0001 a0010c0015t0001g0182 a0011c0016t0003g0253 a0012c0013t0003g0255 a0012c0013t0009g0189 a0013c0025t0009g0259 a0014c0014t0001g0196 a0017c0026t0002g0070 a0026c0033t0001g0002	23	266	0.0865	-40	c.144 others(57): Show c.144+5845_144+5884delCAGAGACGCTCCTCACTTCCTAGATGGG ATGGCGGCCGGG	KDM4C	ENSG00000107077.20	transcript	ENST00000381309.8	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
KDM4C_chr9_6752973_7180648	6798977	CAGAGACG others(33): Show CAGAGACGCTCCTCACTTCCTAGATGGGATGGCGGCCGGGA	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0021 a0021	a0021c0057 a0021c0057	a0021c0057t0001 a0021c0057t0001	a0021c0057t0001g0213 a0021c0057t0001g0213	1	266	0.0038	-40	c.144 others(57): Show c.144+5850_144+5889delACGCTCCTCACTTCCTAGATGGGATGGC GGCCGGGAAGAG	KDM4C	ENSG00000107077.20	transcript	ENST00000381309.8	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
KDM4C_chr9_6752973_7180648	6807651	ACCCCGTC others(33): Show ACCCCGTCTGAGAAGTGAGGAGCCCATCCGCCCGGCAGCTG	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0018 a0001c0002t0001g0018	1	266	0.0038	-40	c.320 others(57): Show c.320+1901_320+1940delCATCCGCCCGGCAGCTGCCCCGTCTGAG AAGTGAGGAGCC	KDM4C	ENSG00000107077.20	transcript	ENST00000381309.8	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
KDM7A_chr7_140079746_140181983	140114855	CAGCCGCC others(33): Show CAGCCGCCCCGTCTGAGAAGTGAGGAGCCCCTCCGCCCGGA	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp2 HG00597.hp1 others(121): Show HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp2 HG01175.hp1 HG01255.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp2 HG01978.hp1 HG01978.hp2 HG02040.hp1 HG02071.hp1 HG02074.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02451.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03486.hp1 HG03579.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03942.hp2 HG04184.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp2 NA18941.hp1 NA18942.hp2 NA18947.hp2 NA18951.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp2 NA18956.hp1 NA18960.hp1 NA18961.hp1 NA18964.hp1 NA18965.hp2 NA18966.hp1 NA18968.hp1 NA18969.hp1 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18985.hp1 NA18988.hp1 NA18999.hp1 NA19006.hp2 NA19007.hp1 NA19010.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19055.hp1 NA19057.hp1 NA19057.hp2 NA19059.hp2 NA19060.hp2 NA19079.hp2 NA19080.hp1 NA19082.hp2 NA19083.hp2 NA19086.hp1 NA19090.hp1 NA20129.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0013 a0002c0002 a0002c0008 others(2): Show a0001c0013 a0002c0002 a0002c0008 a0002c0011 a0006c0007	a0001c0013t0028 a0002c0002t0003 a0002c0002t0004 others(14): Show a0001c0013t0028 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0008 a0002c0002t0011 a0002c0002t0013 a0002c0002t0014 a0002c0002t0015 a0002c0002t0018 a0002c0002t0022 a0002c0002t0026 a0002c0002t0027 a0002c0008t0006 a0002c0011t0005 a0006c0007t0004	a0001c0013t0028g0045 a0002c0002t0003g0220 a0002c0002t0003g0221 others(115): Show a0001c0013t0028g0045 a0002c0002t0003g0220 a0002c0002t0003g0221 a0002c0002t0003g0222 a0002c0002t0003g0223 a0002c0002t0003g0224 a0002c0002t0003g0230 a0002c0002t0003g0231 a0002c0002t0003g0232 a0002c0002t0003g0233 a0002c0002t0003g0234 a0002c0002t0003g0235 a0002c0002t0003g0236 a0002c0002t0003g0237 a0002c0002t0003g0238 a0002c0002t0003g0239 a0002c0002t0003g0240 a0002c0002t0003g0241 a0002c0002t0003g0242 a0002c0002t0003g0243 a0002c0002t0003g0244 a0002c0002t0003g0245 a0002c0002t0003g0246 a0002c0002t0003g0247 a0002c0002t0003g0248 a0002c0002t0003g0249 a0002c0002t0003g0250 a0002c0002t0003g0251 a0002c0002t0003g0252 a0002c0002t0003g0253 a0002c0002t0003g0254 a0002c0002t0003g0255 a0002c0002t0003g0256 a0002c0002t0003g0257 a0002c0002t0003g0259 a0002c0002t0003g0260 a0002c0002t0003g0261 a0002c0002t0003g0262 a0002c0002t0003g0263 a0002c0002t0003g0264 a0002c0002t0003g0265 a0002c0002t0003g0266 a0002c0002t0003g0267 a0002c0002t0003g0272 a0002c0002t0004g0015 a0002c0002t0004g0284 a0002c0002t0004g0285 a0002c0002t0004g0286 a0002c0002t0004g0287 a0002c0002t0004g0288 a0002c0002t0004g0289 a0002c0002t0004g0290 a0002c0002t0004g0291 a0002c0002t0004g0292 a0002c0002t0004g0293 a0002c0002t0004g0294 a0002c0002t0004g0295 a0002c0002t0004g0296 a0002c0002t0004g0297 a0002c0002t0004g0298 a0002c0002t0004g0299 a0002c0002t0004g0300 a0002c0002t0004g0301 a0002c0002t0004g0303 a0002c0002t0004g0304 a0002c0002t0004g0309 a0002c0002t0004g0310 a0002c0002t0004g0311 a0002c0002t0004g0312 a0002c0002t0004g0313 a0002c0002t0005g0014 a0002c0002t0005g0021 a0002c0002t0005g0050 a0002c0002t0005g0144 a0002c0002t0005g0145 a0002c0002t0005g0204 a0002c0002t0005g0207 a0002c0002t0005g0208 a0002c0002t0005g0209 a0002c0002t0005g0210 a0002c0002t0005g0211 a0002c0002t0005g0212 a0002c0002t0005g0278 a0002c0002t0005g0279 a0002c0002t0005g0280 a0002c0002t0006g0003 a0002c0002t0006g0282 a0002c0002t0006g0283 a0002c0002t0006g0305 a0002c0002t0006g0306 a0002c0002t0006g0308 a0002c0002t0008g0012 a0002c0002t0008g0225 a0002c0002t0008g0226 a0002c0002t0008g0227 a0002c0002t0008g0228 a0002c0002t0008g0229 a0002c0002t0011g0143 a0002c0002t0011g0274 a0002c0002t0011g0275 a0002c0002t0011g0276 a0002c0002t0013g0268 a0002c0002t0013g0269 a0002c0002t0013g0270 a0002c0002t0014g0018 a0002c0002t0014g0019 a0002c0002t0014g0020 a0002c0002t0015g0013 a0002c0002t0015g0271 a0002c0002t0018g0205 a0002c0002t0018g0206 a0002c0002t0022g0142 a0002c0002t0026g0147 a0002c0002t0027g0258 a0002c0008t0006g0314 a0002c0011t0005g0146 a0006c0007t0004g0302 a0006c0007t0004g0307	124	344	0.3605	-40	c.124 others(59): Show c.1247-1313_1247-1274delTCCGGGCGGAGGGGCTCCTCACTTCT CAGACGGGGCGGCT	KDM7A	ENSG00000006459.11	transcript	ENST00000397560.7	protein_coding	9/19			chr7	TogoVar
KIAA0930_chr22_45187244_45245894	45228998	ACCCCCAC others(33): Show ACCCCCACACCACCAAACACTCACCCGAAAGATCCCTCTCC	A A	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0074 a0001c0001t0074	a0001c0001t0074g0181 a0001c0001t0074g0181	1	398	0.0025	-40	c.64+ others(57): Show c.64+11602_64+11641delGGAGAGGGATCTTTCGGGTGAGTGTTTG GTGGTGTGGGGG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIAA1549L_chr11_33371108_33679102	33530424	AAAAAAAA others(33): Show AAAAAAAAAAAAAATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0025 a0001c0012t0025	a0001c0012t0025g0150 a0001c0012t0025g0150	1	226	0.0044	-40	c.239 others(59): Show c.239-11376_239-11337delAAAAAAAAAAAATATATATATATATA TATATATATATATA	KIAA1549L	ENSG00000110427.17	transcript	ENST00000658780.2	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr11	TogoVar

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Search Results (Total: 3176 hits)