Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
KDM1A_chr1_23014468_23088689	23017177	TTATATAT others(35): Show TTATATATATATATATATATATATATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00597.hp1 HG00738.hp1 others(78): Show HG00140.hp2 HG00597.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01074.hp1 HG01081.hp2 HG01168.hp2 HG01169.hp1 HG01261.hp2 HG01361.hp2 HG01934.hp1 HG01975.hp2 HG01978.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp1 HG02148.hp2 HG02258.hp2 HG02280.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02630.hp1 HG02723.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02970.hp1 HG03041.hp1 HG03209.hp1 HG03453.hp2 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03831.hp1 HG03834.hp1 HG03942.hp1 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18942.hp1 NA18944.hp2 NA18948.hp2 NA18949.hp2 NA18955.hp1 NA18957.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18968.hp1 NA18971.hp2 NA18972.hp2 NA18980.hp1 NA18982.hp1 NA18986.hp2 NA18992.hp1 NA18999.hp1 NA19000.hp1 NA19002.hp2 NA19003.hp2 NA19006.hp2 NA19007.hp2 NA19056.hp2 NA19060.hp1 NA19064.hp2 NA19067.hp1 NA19070.hp2 NA19075.hp1 NA19077.hp2 NA19080.hp2 NA19081.hp2 NA19083.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA20752.hp1 NA20805.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0005c0005t0003	a0001c0001t0001g0008 a0001c0001t0001g0058 a0001c0001t0001g0060 others(73): Show a0001c0001t0001g0008 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0092 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0143 a0001c0001t0001g0149 a0001c0001t0001g0234 a0001c0001t0001g0333 a0001c0001t0002g0118 a0001c0001t0003g0001 a0001c0001t0003g0007 a0001c0001t0003g0057 a0001c0001t0003g0064 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0086 a0001c0001t0003g0089 a0001c0001t0003g0091 a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0003g0107 a0001c0001t0003g0108 a0001c0001t0003g0123 a0001c0001t0003g0134 a0001c0001t0003g0142 a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0148 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0232 a0005c0005t0003g0227	81	352	0.2301	-42	c.-24 others(53): Show c.-2419_-2378delTATATATATATATATATATATATATATATATATA TATATATA		KDM1A	ENSG00000004487.18	transcript	ENST00000400181.9	protein_coding					2290		chr1	TogoVar
KDM2A_chr11_67114263_67263082	67247034	ATTTTATA others(35): Show ATTTTATATATATATATATATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	220	0.0046	-42	c.196 others(59): Show c.1965+923_1965+964delATATATATATATATATATATATATATAT ATATATTTTTTTTT		KDM2A	ENSG00000173120.15	transcript	ENST00000529006.7	protein_coding	15/20					INFO_REALIGN_3_PRIME	chr11	TogoVar
KIAA1217_chr10_24204138_24552843	24538586	AAGGAAGG others(35): Show AAGGAAGGAAGGAAGGAAGGAAAAAGAGAGGAAGGAAAAAGAG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01081.hp1 HG01081.hp2 others(4): Show HG00408.hp2 HG01081.hp1 HG01081.hp2 HG02451.hp2 HG03195.hp1 NA19000.hp2 NA19086.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0002c0036 others(2): Show a0001c0001 a0002c0002 a0002c0036 a0003c0053 a0003c0055	a0001c0001t0001 a0002c0002t0001 a0002c0036t0001 others(2): Show a0001c0001t0001 a0002c0002t0001 a0002c0036t0001 a0003c0053t0003 a0003c0055t0001	a0001c0001t0001g0134 a0002c0002t0001g0164 a0002c0002t0001g0172 others(4): Show a0001c0001t0001g0134 a0002c0002t0001g0164 a0002c0002t0001g0172 a0002c0002t0001g0175 a0002c0036t0001g0202 a0003c0053t0003g0135 a0003c0055t0001g0126	7	240	0.0292	-42	c.353 others(61): Show c.3534+1703_3534+1744delGGAAGGAAGGAAAAAGAGAGGAAGGA AAAAGAGAGGAAGGAA		KIAA1217	ENSG00000120549.19	transcript	ENST00000376454.8	protein_coding	17/20					INFO_REALIGN_3_PRIME	chr10	TogoVar
KIAA1549L_chr11_33371108_33679102	33614550	ATATATAT others(35): Show ATATATATATATATATATATATATATATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02572.hp2 HG02922.hp1 HG01884.hp2 HG02572.hp2 HG02922.hp1	a0003 a0003	a0003c0032 a0003c0047 a0003c0032 a0003c0047	a0003c0032t0034 a0003c0032t0077 a0003c0047t0029 a0003c0032t0034 a0003c0032t0077 a0003c0047t0029	a0003c0032t0034g0141 a0003c0032t0077g0065 a0003c0047t0029g0070 a0003c0032t0034g0141 a0003c0032t0077g0065 a0003c0047t0029g0070	3	226	0.0133	-42	c.528 others(61): Show c.5280-3981_5280-3940delATATATATATATATATATATATATAT ATATATATTTTTTTTT		KIAA1549L	ENSG00000110427.17	transcript	ENST00000658780.2	protein_coding	15/20					INFO_REALIGN_3_PRIME	chr11	TogoVar
KIAA1549L_chr11_33371108_33679102	33614552	ATATATAT others(35): Show ATATATATATATATATATATATATATATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0003 a0001c0023t0003	a0001c0023t0003g0013 a0001c0023t0003g0013	1	226	0.0044	-42	c.528 others(61): Show c.5280-3979_5280-3938delATATATATATATATATATATATATAT ATATATTTTTTTTTTT		KIAA1549L	ENSG00000110427.17	transcript	ENST00000658780.2	protein_coding	15/20					INFO_REALIGN_3_PRIME	chr11	TogoVar
KIAA1549L_chr11_33371108_33679102	33641572	GTATATAT others(35): Show GTATATATATATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02145.hp2 HG02280.hp2 others(21): Show HG01884.hp1 HG02145.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02809.hp1 HG02922.hp2 HG02976.hp1 HG03139.hp1 HG03209.hp1 HG03453.hp2 HG03486.hp1 HG03579.hp2 NA18906.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1	a0001 a0004 a0015 others(2): Show a0001 a0004 a0015 a0016 a0019	a0001c0008 a0001c0009 a0001c0010 others(13): Show a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0013 a0001c0020 a0001c0023 a0001c0026 a0001c0035 a0001c0052 a0001c0053 a0001c0073 a0004c0048 a0015c0045 a0016c0054 a0019c0094	a0001c0008t0001 a0001c0008t0003 a0001c0009t0011 others(17): Show a0001c0008t0001 a0001c0008t0003 a0001c0009t0011 a0001c0009t0070 a0001c0010t0002 a0001c0011t0001 a0001c0013t0002 a0001c0013t0010 a0001c0020t0003 a0001c0023t0003 a0001c0026t0065 a0001c0035t0073 a0001c0035t0075 a0001c0052t0074 a0001c0053t0053 a0001c0073t0002 a0004c0048t0010 a0015c0045t0001 a0016c0054t0001 a0019c0094t0009	a0001c0008t0001g0083 a0001c0008t0003g0004 a0001c0008t0003g0074 others(21): Show a0001c0008t0001g0083 a0001c0008t0003g0004 a0001c0008t0003g0074 a0001c0008t0003g0077 a0001c0008t0003g0094 a0001c0008t0003g0095 a0001c0009t0011g0096 a0001c0009t0070g0097 a0001c0010t0002g0145 a0001c0011t0001g0107 a0001c0013t0002g0138 a0001c0013t0010g0102 a0001c0020t0003g0069 a0001c0023t0003g0013 a0001c0026t0065g0012 a0001c0035t0073g0014 a0001c0035t0075g0009 a0001c0052t0074g0084 a0001c0053t0053g0087 a0001c0073t0002g0199 a0004c0048t0010g0078 a0015c0045t0001g0081 a0016c0054t0001g0082 a0019c0094t0009g0007	24	226	0.1062	-42	c.541 others(61): Show c.5410-4093_5410-4052delTATATATATATATATATATATATATA TATATATATATATATA		KIAA1549L	ENSG00000110427.17	transcript	ENST00000658780.2	protein_coding	16/20					INFO_REALIGN_3_PRIME	chr11	TogoVar
KIF1A_chr2_240708767_240825219	240781431	CCACACAC others(35): Show CCACACACACACACACACACACACACACAGCTCCACACACACA	C C	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0026 a0001c0006t0005g0026	1	330	0.0030	-42	c.882 others(59): Show c.882+1117_882+1158delTGTGTGTGTGGAGCTGTGTGTGTGTGTG TGTGTGTGTGTGTG		KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	10/48						chr2	TogoVar
KIF4A_chrX_70285104_70425886	70393827	TTCTTTCT others(35): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01175.hp2 HG02559.hp2 others(8): Show HG01074.hp1 HG01175.hp2 HG02559.hp2 HG03490.hp1 HG03516.hp2 HG03834.hp2 HG06807.hp1 NA18977.hp1 NA19030.hp2 NA19043.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0001 a0001c0002t0001 a0001c0008t0001 a0001c0001t0001 a0001c0002t0001 a0001c0008t0001	a0001c0001t0001g0010 a0001c0001t0001g0020 a0001c0001t0001g0021 others(8): Show a0001c0001t0001g0010 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0122 a0001c0001t0001g0130 a0001c0001t0001g0154 a0001c0001t0001g0172 a0001c0001t0001g0196 a0001c0002t0001g0181 a0001c0008t0001g0240 a0001c0008t0001g0241	11	259	0.0425	-42	c.223 others(61): Show c.2233-1842_2233-1801delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCT		KIF4A	ENSG00000090889.12	transcript	ENST00000374403.4	protein_coding	20/30					INFO_REALIGN_3_PRIME	chrX	TogoVar
KIF6_chr6_39324990_39730408	39523645	CATATATA others(35): Show CATATATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0149 a0001c0001t0004g0149	1	174	0.0058	-42	c.164 others(63): Show c.1645+16316_1645+16357delATATATATATATATATATATATAT ATATATATATATATATAT		KIF6	ENSG00000164627.18	transcript	ENST00000287152.12	protein_coding	13/22						chr6	TogoVar
KLF17_chr1_44113821_44140140	44139383	TTCTGGTT others(35): Show TTCTGGTTACCAGTGGAGGTCATCATCTGCCCCCAGTAGAGGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG00423.hp2 others(26): Show HG00280.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG01074.hp1 HG01081.hp2 HG01358.hp2 HG01433.hp2 HG01516.hp1 HG01517.hp1 HG01943.hp1 HG01981.hp1 HG02165.hp1 HG02523.hp1 HG03710.hp1 NA18747.hp2 NA18949.hp1 NA18953.hp2 NA18960.hp1 NA18967.hp2 NA18990.hp2 NA19000.hp2 NA19065.hp1 NA19076.hp2 NA19077.hp2 NA19078.hp1 NA19089.hp2 homoSapiens_chm13v2.hp1	a0003 a0006 a0003 a0006	a0003c0003 a0006c0007 a0003c0003 a0006c0007	a0003c0003t0003 a0003c0003t0018 a0006c0007t0001 a0003c0003t0003 a0003c0003t0018 a0006c0007t0001	a0003c0003t0003g0014 a0003c0003t0003g0032 a0003c0003t0003g0033 others(18): Show a0003c0003t0003g0014 a0003c0003t0003g0032 a0003c0003t0003g0033 a0003c0003t0003g0034 a0003c0003t0003g0047 a0003c0003t0003g0048 a0003c0003t0003g0067 a0003c0003t0003g0100 a0003c0003t0003g0101 a0003c0003t0003g0102 a0003c0003t0003g0103 a0003c0003t0003g0105 a0003c0003t0003g0113 a0003c0003t0003g0115 a0003c0003t0003g0175 a0003c0003t0003g0199 a0003c0003t0003g0200 a0003c0003t0003g0201 a0003c0003t0003g0202 a0003c0003t0018g0104 a0006c0007t0001g0072	29	444	0.0653	-42	c.61 others(53): Show c.6147_*6188delTCTGGTTACCAGTGGAGGTCATCATCTGCCCCCA GTAGAGGG		KLF17	ENSG00000171872.5	transcript	ENST00000372299.4	protein_coding					4244		chr1	TogoVar
KLF17_chr1_44113821_44140140	44139587	TAGAGGGC others(35): Show TAGAGGGCCTGGTTACCAGTGGAGGTTGTCATCTGCTCTCCAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	444	0.0023	-42	c.63 others(53): Show c.6351_*6392delAGAGGGCCTGGTTACCAGTGGAGGTTGTCATCTG CTCTCCAC		KLF17	ENSG00000171872.5	transcript	ENST00000372299.4	protein_coding					4448		chr1	TogoVar
KLF17_chr1_44113821_44140140	44139729	TAGCAGAG others(35): Show TAGCAGAGGTTGTCATCTGCCCCCCGTAGAGGGCCTGGTTACC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	444	0.0023	-42	c.64 others(53): Show c.6493_*6534delAGCAGAGGTTGTCATCTGCCCCCCGTAGAGGGCC TGGTTACC		KLF17	ENSG00000171872.5	transcript	ENST00000372299.4	protein_coding					4590		chr1	TogoVar
KLF18_chr1_44132821_44146631	44139383	TTCTGGTT others(35): Show TTCTGGTTACCAGTGGAGGTCATCATCTGCCCCCAGTAGAGGG	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00280.hp2 HG00408.hp1 HG00423.hp1 others(29): Show HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00558.hp2 HG01074.hp2 HG01081.hp2 HG01192.hp1 HG01192.hp2 HG01358.hp2 HG01433.hp2 HG01516.hp1 HG01517.hp2 HG01943.hp1 HG01981.hp1 HG02165.hp2 HG02523.hp1 HG03710.hp1 NA18747.hp2 NA18949.hp2 NA18953.hp1 NA18960.hp2 NA18967.hp1 NA18990.hp2 NA19000.hp1 NA19054.hp2 NA19059.hp2 NA19065.hp1 NA19077.hp2 NA19078.hp1 NA19086.hp1 homoSapiens_chm13v2.hp1	a0004 a0013 a0027 a0004 a0013 a0027	a0004c0004 a0004c0026 a0013c0016 others(1): Show a0004c0004 a0004c0026 a0013c0016 a0027c0028	a0004c0004t0000 a0004c0026t0000 a0013c0016t0000 others(1): Show a0004c0004t0000 a0004c0026t0000 a0013c0016t0000 a0027c0028t0000	a0004c0004t0000g0004 a0004c0026t0000g0027 a0013c0016t0000g0016 others(1): Show a0004c0004t0000g0004 a0004c0026t0000g0027 a0013c0016t0000g0016 a0027c0028t0000g0030	32	428	0.0748	-42	c.220 others(51): Show c.2207_2248delCCCTCTACTGGGGGCAGATGATGACCTCCACTGGTA ACCAGA	p.Thr others(13): Show p.Thr736_Gln749del	KLF18	ENSG00000283039.1	transcript	ENST00000634670.1	protein_coding	1/2	2248/3159	2207/3159	736/1052			chr1	TogoVar
KLF18_chr1_44132821_44146631	44139587	TAGAGGGC others(35): Show TAGAGGGCCTGGTTACCAGTGGAGGTTGTCATCTGCTCTCCAC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18984.hp2 NA18984.hp2	a0020 a0020	a0020c0039 a0020c0039	a0020c0039t0000 a0020c0039t0000	a0020c0039t0000g0041 a0020c0039t0000g0041	1	428	0.0023	-42	c.200 others(51): Show c.2003_2044delGTGGAGAGCAGATGACAACCTCCACTGGTAACCAGG CCCTCT	p.Cys others(13): Show p.Cys668_Leu681del	KLF18	ENSG00000283039.1	transcript	ENST00000634670.1	protein_coding	1/2	2044/3159	2003/3159	668/1052			chr1	TogoVar
KLF18_chr1_44132821_44146631	44139729	TAGCAGAG others(35): Show TAGCAGAGGTTGTCATCTGCCCCCCGTAGAGGGCCTGGTTACC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA18984.hp2 NA18984.hp2	a0020 a0020	a0020c0039 a0020c0039	a0020c0039t0000 a0020c0039t0000	a0020c0039t0000g0041 a0020c0039t0000g0041	1	428	0.0023	-42	c.186 others(51): Show c.1861_1902delGGTAACCAGGCCCTCTACGGGGGGCAGATGACAACC TCTGCT	p.Gly others(13): Show p.Gly621_Ala634del	KLF18	ENSG00000283039.1	transcript	ENST00000634670.1	protein_coding	1/2	1902/3159	1861/3159	621/1052			chr1	TogoVar
KLF18_chr1_44132821_44146631	44140851	GGGTCTGG others(35): Show GGGTCTGGTTACCAGTGGAGGTCGTCATCTGTCTCCCGTAGAA	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00280.hp1 HG01261.hp2 HG01978.hp1 others(16): Show HG00280.hp1 HG01261.hp2 HG01978.hp1 HG02004.hp2 HG02027.hp1 HG02148.hp2 HG02293.hp1 NA18939.hp2 NA18943.hp1 NA18951.hp2 NA18962.hp1 NA18965.hp2 NA18975.hp1 NA18981.hp2 NA18994.hp1 NA18995.hp2 NA19007.hp2 NA19060.hp1 NA19070.hp1	a0006 a0011 a0021 a0006 a0011 a0021	a0006c0006 a0011c0015 a0021c0035 a0006c0006 a0011c0015 a0021c0035	a0006c0006t0000 a0011c0015t0000 a0021c0035t0000 a0006c0006t0000 a0011c0015t0000 a0021c0035t0000	a0006c0006t0000g0006 a0011c0015t0000g0015 a0021c0035t0000g0037 a0006c0006t0000g0006 a0011c0015t0000g0015 a0021c0035t0000g0037	19	428	0.0444	-42	c.739 others(49): Show c.739_780delTTCTACGGGAGACAGATGACGACCTCCACTGGTAACCA GACC	p.Phe others(13): Show p.Phe247_Thr260del	KLF18	ENSG00000283039.1	transcript	ENST00000634670.1	protein_coding	1/2	780/3159	739/3159	247/1052			chr1	TogoVar
KLF6_chr10_3770996_3790209	3773310	GTATATAT others(35): Show GTATATATATATTTGTATATGTATATATATATTTGTATATGTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00558.hp1 HG01070.hp2 others(28): Show HG00099.hp1 HG00558.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01109.hp1 HG01433.hp2 HG01928.hp2 HG01952.hp2 HG02040.hp1 NA18950.hp1 NA18960.hp1 NA18961.hp2 NA18963.hp2 NA18964.hp1 NA18966.hp1 NA18968.hp1 NA18970.hp1 NA18982.hp1 NA18985.hp1 NA18991.hp2 NA18992.hp2 NA19004.hp2 NA19009.hp2 NA19010.hp2 NA19056.hp2 NA19067.hp2 NA19074.hp1 NA19077.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0014 a0001c0001t0038 others(2): Show a0001c0001t0005 a0001c0001t0014 a0001c0001t0038 a0001c0001t0043 a0001c0001t0044	a0001c0001t0005g0004 a0001c0001t0005g0049 a0001c0001t0014g0015 others(3): Show a0001c0001t0005g0004 a0001c0001t0005g0049 a0001c0001t0014g0015 a0001c0001t0038g0056 a0001c0001t0043g0057 a0001c0001t0044g0058	31	458	0.0677	-42	c.61 others(53): Show c.6187_*6228delTACATATACAAATATATATATACATATACAAATA TATATATA		KLF6	ENSG00000067082.15	transcript	ENST00000497571.6	protein_coding					2685		chr10	TogoVar
KLHDC4_chr16_87702812_87770986	87739486	CGTCATCC others(35): Show CGTCATCCATCCACACACCAGCACCTCATCCACACACCAGCAT	C C	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0347 a0002c0002t0001g0347	1	380	0.0026	-42	c.507 others(59): Show c.507-8884_507-8843delATGCTGGTGTGTGGATGAGGTGCTGGTG TGTGGATGGATGAC		KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	5/11						chr16	TogoVar
KLHL15_chrX_23978720_24032186	23979562	AAAAAAAA others(35): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 NA18943.hp1 NA18957.hp1 others(7): Show HG02056.hp1 NA18943.hp1 NA18957.hp1 NA18966.hp1 NA18970.hp1 NA18975.hp2 NA18978.hp1 NA19012.hp1 NA19080.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0012 a0001c0001t0001 a0002c0004t0012	a0001c0001t0001g0078 a0001c0001t0001g0088 a0001c0001t0001g0089 others(7): Show a0001c0001t0001g0078 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0120 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0144 a0002c0004t0012g0024	10	286	0.0350	-42	c.83 others(53): Show c.8317_*8358delATATATATATATATATTTTTTTTTTTTTTTTTTT TTTTTTTT		KLHL15	ENSG00000174010.10	transcript	ENST00000328046.8	protein_coding					4157		chrX	TogoVar
KLHL15_chrX_23978720_24032186	23979564	AAAAAAAA others(35): Show AAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00558.hp2 HG00673.hp1 others(29): Show HG00423.hp2 HG00558.hp2 HG00673.hp1 HG02004.hp1 HG02165.hp2 HG02273.hp1 HG04115.hp1 HG04199.hp1 NA18747.hp1 NA18947.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18959.hp1 NA18964.hp1 NA18967.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18992.hp1 NA18999.hp2 NA19004.hp1 NA19057.hp2 NA19065.hp1 NA19067.hp1 NA19072.hp1 NA19076.hp1 NA19079.hp1 NA19081.hp1 NA19084.hp1 NA19085.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0002 a0001c0001 a0004c0002	a0001c0001t0001 a0001c0001t0024 a0004c0002t0001 a0001c0001t0001 a0001c0001t0024 a0004c0002t0001	a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0046 others(29): Show a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0076 a0001c0001t0001g0083 a0001c0001t0001g0092 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0117 a0001c0001t0001g0124 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0142 a0001c0001t0001g0149 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0273 a0001c0001t0024g0107 a0004c0002t0001g0111	32	286	0.1119	-42	c.83 others(53): Show c.8315_*8356delATATATATATATATATATTTTTTTTTTTTTTTTT TTTTTTTT		KLHL15	ENSG00000174010.10	transcript	ENST00000328046.8	protein_coding					4155		chrX	TogoVar
KLHL15_chrX_23978720_24032186	23979566	AAAAAAAA others(35): Show AAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp2 HG02683.hp2 HG04228.hp1 others(7): Show HG01978.hp2 HG02683.hp2 HG04228.hp1 NA18965.hp1 NA18969.hp2 NA18979.hp1 NA19000.hp1 NA19070.hp1 NA19089.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0049 a0001c0001t0001g0096 others(6): Show a0001c0001t0001g0003 a0001c0001t0001g0049 a0001c0001t0001g0096 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0153 a0001c0001t0001g0268 a0001c0001t0001g0274 a0001c0001t0001g0277	10	286	0.0350	-42	c.83 others(53): Show c.8313_*8354delATATATATATATATATATATTTTTTTTTTTTTTT TTTTTTTT		KLHL15	ENSG00000174010.10	transcript	ENST00000328046.8	protein_coding					4153		chrX	TogoVar
KLHL15_chrX_23978720_24032186	23979568	AAAAAAAA others(35): Show AAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	286	0.0035	-42	c.83 others(53): Show c.8311_*8352delATATATATATATATATATATATTTTTTTTTTTTT TTTTTTTT		KLHL15	ENSG00000174010.10	transcript	ENST00000328046.8	protein_coding					4151		chrX	TogoVar
KLHL1_chr13_69695597_70113452	69780691	TATATATA others(35): Show TATATATATATGTATATATATATATGTATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0094 a0001c0001t0002g0094	1	182	0.0055	-42	c.163 others(63): Show c.1639+16005_1639+16046delGTATATATATATATATACATATAT ATATATACATATATATAT		KLHL1	ENSG00000150361.12	transcript	ENST00000377844.9	protein_coding	7/10						chr13	TogoVar
KLK7_chr19_50971468_50988917	50974985	GGGAGTCT others(35): Show GGGAGTCTGGATTCCTGGGTCTGAGGGAGGAGGGGCTGGCGGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG03130.hp1 HG02055.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0098 a0001c0001t0002g0095 a0001c0001t0002g0098	2	384	0.0052	-42	c.25 others(53): Show c.2509_*2550delGCCGCCAGCCCCTCCTCCCTCAGACCCAGGAATC CAGACTCC		KLK7	ENSG00000169035.12	transcript	ENST00000595820.6	protein_coding					1482		chr19	TogoVar
KMT2C_chr7_152129925_152441003	152297039	AAGAAAGA others(35): Show AAGAAAGAAAGAAAGACAGAGAGAGAGAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG03471.hp2 NA19066.hp2 NA20300.hp2 HG03471.hp2 NA19066.hp2 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0059 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0059 a0002c0002t0002g0061 a0002c0002t0002g0062	3	172	0.0174	-42	c.849 others(61): Show c.849+12885_849+12926delCTCTCTCTCTCTCTCTCTCTCTCTCT GTCTTTCTTTCTTTCT		KMT2C	ENSG00000055609.21	transcript	ENST00000262189.11	protein_coding	6/58						chr7	TogoVar
KMT2D_chr12_49013978_49065794	49039131	GATTAGTG others(35): Show GATTAGTGATACAGGAAAATCACAAGAGCTTCCAACAGTGATA	G G	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0112 a0001c0003t0002g0112	1	302	0.0033	-42	c.836 others(57): Show c.8366+49_8366+90delTATCACTGTTGGAAGCTCTTGTGATTTTCC TGTATCACTAAT		KMT2D	ENSG00000167548.18	transcript	ENST00000301067.12	protein_coding	34/54						chr12	TogoVar
KMT5C_chr19_55334876_55353121	55338513	TCTCTCTC others(35): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCACA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 NA19043.hp2 HG02723.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0109 a0001c0001t0001g0044 a0001c0001t0001g0109	2	406	0.0049	-42	c.-15 others(53): Show c.-1587_-1546delCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCACA		KMT5C	ENSG00000133247.14	transcript	ENST00000255613.8	protein_coding					1362		chr19	TogoVar
KNDC1_chr10_133155219_133231412	133190265	CAAACACC others(35): Show CAAACACCCTGCAATAAGCACCCTGCGCTAACCACCCTGCATT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01069.hp2 HG01071.hp1 others(24): Show HG00733.hp1 HG01069.hp2 HG01071.hp1 HG01243.hp1 HG01891.hp1 HG02145.hp1 HG02647.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02965.hp2 HG03041.hp1 HG03098.hp2 HG03139.hp1 HG03209.hp1 HG03453.hp2 HG03471.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA19043.hp2 NA19240.hp2 NA20300.hp1	a0003 a0006 a0007 a0003 a0006 a0007	a0003c0011 a0003c0015 a0003c0032 others(5): Show a0003c0011 a0003c0015 a0003c0032 a0003c0034 a0006c0010 a0006c0019 a0007c0009 a0007c0047	a0003c0011t0001 a0003c0015t0002 a0003c0032t0010 others(7): Show a0003c0011t0001 a0003c0015t0002 a0003c0032t0010 a0003c0034t0011 a0006c0010t0001 a0006c0010t0026 a0006c0019t0005 a0007c0009t0001 a0007c0009t0002 a0007c0047t0001	a0003c0011t0001g0018 a0003c0011t0001g0022 a0003c0011t0001g0153 others(24): Show a0003c0011t0001g0018 a0003c0011t0001g0022 a0003c0011t0001g0153 a0003c0011t0001g0154 a0003c0011t0001g0210 a0003c0011t0001g0248 a0003c0011t0001g0249 a0003c0015t0002g0237 a0003c0032t0010g0308 a0003c0034t0011g0313 a0006c0010t0001g0019 a0006c0010t0001g0020 a0006c0010t0001g0021 a0006c0010t0001g0048 a0006c0010t0001g0105 a0006c0010t0001g0240 a0006c0010t0026g0017 a0006c0019t0005g0277 a0006c0019t0005g0278 a0007c0009t0001g0002 a0007c0009t0001g0047 a0007c0009t0001g0104 a0007c0009t0001g0130 a0007c0009t0001g0132 a0007c0009t0001g0133 a0007c0009t0002g0131 a0007c0047t0001g0002	27	332	0.0813	-42	c.157 others(59): Show c.1575+465_1575+506delATAAGCACCCTGCGCTAACCACCCTGCA TTAAACACCCTGCA		KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	9/29					INFO_REALIGN_3_PRIME	chr10	TogoVar
KNDC1_chr10_133155219_133231412	133221835	CGGGCTGG others(35): Show CGGGCTGGGTGCAGCCACTCACGCCTGTAACCCTAGGTGGGCA	C C	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02896.hp2 HG02976.hp1 others(1): Show HG02895.hp2 HG02896.hp2 HG02976.hp1 NA19030.hp1	a0010 a0010	a0010c0020 a0010c0025 a0010c0020 a0010c0025	a0010c0020t0002 a0010c0025t0002 a0010c0020t0002 a0010c0025t0002	a0010c0020t0002g0258 a0010c0020t0002g0259 a0010c0025t0002g0242 others(1): Show a0010c0020t0002g0258 a0010c0020t0002g0259 a0010c0025t0002g0242 a0010c0025t0002g0243	4	332	0.0121	-42	c.501 others(61): Show c.5018+1761_5018+1802delGGGCAGGGCTGGGTGCAGCCACTCAC GCCTGTAACCCTAGGT		KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	29/29					INFO_REALIGN_3_PRIME	chr10	TogoVar
KNDC1_chr10_133155219_133231412	133221873	GGGCAGGG others(35): Show GGGCAGGGCTGGGTGCAGCCACTCACGCCTGTAACCCTAGGTA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp2 NA19030.hp2 HG00735.hp2 NA19030.hp2	a0003 a0023 a0003 a0023	a0003c0049 a0023c0064 a0003c0049 a0023c0064	a0003c0049t0002 a0023c0064t0001 a0003c0049t0002 a0023c0064t0001	a0003c0049t0002g0023 a0023c0064t0001g0155 a0003c0049t0002g0023 a0023c0064t0001g0155	2	332	0.0060	-42	c.501 others(61): Show c.5018+1765_5018+1806delAGGGCTGGGTGCAGCCACTCACGCCT GTAACCCTAGGTAGGC		KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	29/29					INFO_REALIGN_3_PRIME	chr10	TogoVar
KNDC1_chr10_133155219_133231412	133221877	AGGGCTGG others(35): Show AGGGCTGGGTGCAGCCACTCACGCCTGTAACCCTAGGTAGGCC	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02027.hp1 HG02027.hp2 others(12): Show HG01109.hp1 HG02027.hp1 HG02027.hp2 HG02148.hp1 HG02293.hp2 NA18945.hp1 NA18966.hp1 NA18974.hp2 NA18981.hp1 NA18995.hp2 NA19010.hp2 NA19067.hp2 NA19081.hp2 NA19086.hp2 NA19091.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0017 a0001c0001 a0008c0017	a0001c0001t0001 a0008c0017t0001 a0001c0001t0001 a0008c0017t0001	a0001c0001t0001g0041 a0001c0001t0001g0165 a0001c0001t0001g0167 others(12): Show a0001c0001t0001g0041 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0177 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0228 a0001c0001t0001g0256 a0008c0017t0001g0060	15	332	0.0452	-42	c.501 others(61): Show c.5018+1803_5018+1844delAGGCCGGGCTGGGTGCAGCCACTCAC GCCTGTAACCCTAGGT		KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	29/29					INFO_REALIGN_3_PRIME	chr10	TogoVar
KNDC1_chr10_133155219_133231412	133221915	AGGCCGGG others(35): Show AGGCCGGGCTGGGTGCAGCCACTCACGCCTGTAACCCTAGGTG	A A	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA18961.hp1 HG03098.hp1 NA18961.hp1	a0001 a0001	a0001c0008 a0001c0038 a0001c0008 a0001c0038	a0001c0008t0001 a0001c0038t0005 a0001c0008t0001 a0001c0038t0005	a0001c0008t0001g0272 a0001c0038t0005g0270 a0001c0008t0001g0272 a0001c0038t0005g0270	2	332	0.0060	-42	c.501 others(61): Show c.5018+1854_5018+1895delTGGGTGCAGCCACTCACGCCTGTAAC CCTAGGTGGGCCGGGC		KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	29/29					INFO_REALIGN_3_PRIME	chr10	TogoVar
KNDC1_chr10_133155219_133231412	133223369	GTGTGTGT others(35): Show GTGTGTGTCTGTGAGAGCCCATCCAGGCATGCTCTTCCCGGCA	G G	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03209.hp1 HG03540.hp2 others(4): Show HG02965.hp2 HG03209.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 NA18522.hp2 NA19043.hp2	a0006 a0007 a0006 a0007	a0006c0010 a0007c0009 a0006c0010 a0007c0009	a0006c0010t0001 a0006c0010t0026 a0007c0009t0001 a0006c0010t0001 a0006c0010t0026 a0007c0009t0001	a0006c0010t0001g0019 a0006c0010t0001g0020 a0006c0010t0001g0021 others(4): Show a0006c0010t0001g0019 a0006c0010t0001g0020 a0006c0010t0001g0021 a0006c0010t0001g0048 a0006c0010t0001g0240 a0006c0010t0026g0017 a0007c0009t0001g0104	7	332	0.0211	-42	c.501 others(61): Show c.5019-1282_5019-1241delCTGTGAGAGCCCATCCAGGCATGCTC TTCCCGGCATGTGTGT		KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	29/29					INFO_REALIGN_3_PRIME	chr10	TogoVar
KPNA7_chr7_99168572_99213115	99181033	GTGTGTCT others(35): Show GTGTGTCTCTCTCTCTCTCTCCGTCTGTGTCTCTCTCTCCATC	G G	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG03654.hp1 HG04204.hp2 HG01346.hp1 HG03654.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0170 a0001c0001t0001g0297 a0001c0001t0001g0298	3	334	0.0090	-42	c.131 others(59): Show c.1317+808_1317+849delGATGGAGAGAGAGACACAGACGGAGAGA GAGAGAGAGACACA		KPNA7	ENSG00000185467.8	transcript	ENST00000327442.7	protein_coding	9/10						chr7	TogoVar
KRT18_chr12_52944118_52957906	52952596	GGAGGAAG others(35): Show GGAGGAAGAGGCTGAGGGTGATTTGGAGATAAAGGTAGAGGTC	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02109.hp2 HG02280.hp2 others(17): Show HG01109.hp2 HG02109.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02922.hp1 HG02965.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03579.hp1 HG06807.hp2 NA18906.hp2 NA19030.hp1 NA19043.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0005 a0001c0001t0005g0005 a0001c0001t0001g0005 a0001c0001t0005g0005	20	406	0.0493	-42	c.117 others(58): Show c.1173-125_1173-84delGAGGAAGAGGCTGAGGGTGATTTGGAGAT AAAGGTAGAGGTC		KRT18	ENSG00000111057.11	transcript	ENST00000388835.4	protein_coding	6/6						chr12	TogoVar
KRT24_chr17_40692991_40708752	40701723	GTATATAT others(35): Show GTATATATATATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02109.hp2 HG02647.hp2 others(7): Show HG01081.hp1 HG02109.hp2 HG02647.hp2 HG02818.hp2 HG03130.hp2 HG03209.hp1 HG03453.hp1 NA18522.hp1 NA18906.hp1 NA21309.hp1	a0004 a0004	a0004c0005 a0004c0011 a0004c0005 a0004c0011	a0004c0005t0001 a0004c0011t0001 a0004c0005t0001 a0004c0011t0001	a0004c0005t0001g0017 a0004c0005t0001g0048 a0004c0005t0001g0102 others(1): Show a0004c0005t0001g0017 a0004c0005t0001g0048 a0004c0005t0001g0102 a0004c0011t0001g0047	10	424	0.0236	-42	c.698 others(56): Show c.698+86_698+127delTATATATATATATATATATATATATATATAT ATATATATATA		KRT24	ENSG00000167916.5	transcript	ENST00000264651.3	protein_coding	2/7						chr17	TogoVar
KRTAP5-11_chr11_71576855_71587875	71582738	TGGAGCCA others(35): Show TGGAGCCACAGCCCCCACAGCCAGAGCCACAGCCCCCACTGCC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00621.hp1 HG01167.hp2 HG01169.hp2 others(23): Show HG00621.hp1 HG01167.hp2 HG01169.hp2 HG01243.hp2 HG01515.hp2 HG01884.hp1 HG02145.hp2 HG02148.hp2 HG02280.hp2 HG02300.hp2 HG02559.hp2 HG02572.hp2 HG02622.hp2 HG02717.hp2 HG02723.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03453.hp2 HG03471.hp2 HG03540.hp2 HG03579.hp2 NA19043.hp2 NA20129.hp2 NA20752.hp2 NA21309.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0002 a0002c0002t0003 a0004c0004t0003 a0002c0002t0002 a0002c0002t0003 a0004c0004t0003	a0002c0002t0002g0000 a0002c0002t0003g0000 a0004c0004t0003g0000 a0002c0002t0002g0000 a0002c0002t0003g0000 a0004c0004t0003g0000	26	464	0.0560	-42	c.58_ others(47): Show c.58_99delGGCAGTGGGGGCTGTGGCTCTGGCTGTGGGGGCTGTGGCT CC	p.Gly others(11): Show p.Gly20_Ser33del	KRTAP5-11	ENSG00000204571.7	transcript	ENST00000398530.1	protein_coding	1/1	137/1021	58/471	20/156			chr11	TogoVar
KRTAP5-4_chr11_1615958_1627138	1621974	GGAGCCAC others(35): Show GGAGCCACAGCCCCCACAGCCGGAGCCACAGCCCCCACAGCCA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00438.hp2 HG00609.hp1 others(46): Show HG00099.hp1 HG00438.hp2 HG00609.hp1 HG00673.hp1 HG00733.hp2 HG00738.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01099.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp2 HG01515.hp1 HG01517.hp2 HG01934.hp1 HG01952.hp1 HG02015.hp1 HG02056.hp1 HG02074.hp2 HG02132.hp1 HG02135.hp2 HG02165.hp2 HG02622.hp2 HG02809.hp2 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp2 HG03195.hp2 HG03209.hp2 HG03579.hp2 HG04184.hp2 HG04204.hp1 NA18943.hp1 NA18947.hp2 NA18951.hp1 NA18953.hp1 NA18954.hp1 NA18957.hp2 NA18967.hp1 NA18973.hp1 NA18980.hp1 NA18984.hp2 NA19011.hp1 NA19056.hp2 NA19063.hp1 NA19066.hp1 NA19089.hp2	a0003 a0005 a0007 a0003 a0005 a0007	a0003c0003 a0005c0005 a0007c0007 a0003c0003 a0005c0005 a0007c0007	a0003c0003t0003 a0005c0005t0003 a0005c0005t0004 others(1): Show a0003c0003t0003 a0005c0005t0003 a0005c0005t0004 a0007c0007t0003	a0003c0003t0003g0000 a0005c0005t0003g0000 a0005c0005t0004g0000 others(1): Show a0003c0003t0003g0000 a0005c0005t0003g0000 a0005c0005t0004g0000 a0007c0007t0003g0000	49	427	0.1148	-42	c.78_ others(48): Show c.78_119delTGGCTGTGGGGGCTGTGGCTCCGGCTGTGGGGGCTGTGG CTC	p.Gly others(11): Show p.Gly27_Ser40del	KRTAP5-4	ENSG00000241598.6	transcript	ENST00000399682.1	protein_coding	1/1	164/1181	78/687	26/228			chr11	TogoVar
KSR2_chr12_117448012_117973990	117692465	TATATATA others(35): Show TATATATATATATATATATATATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG02109.hp1 others(2): Show HG01168.hp2 HG01169.hp1 HG02109.hp1 HG03453.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0018 a0001c0001t0071 a0001c0002t0010 others(1): Show a0001c0001t0018 a0001c0001t0071 a0001c0002t0010 a0001c0002t0063	a0001c0001t0018g0147 a0001c0001t0071g0053 a0001c0002t0010g0008 others(2): Show a0001c0001t0018g0147 a0001c0001t0071g0053 a0001c0002t0010g0008 a0001c0002t0010g0009 a0001c0002t0063g0048	5	196	0.0255	-42	c.987 others(61): Show c.987-24849_987-24808delGTATATATATATATATATATATATAT ATATATATATATATAT		KSR2	ENSG00000171435.15	transcript	ENST00000339824.7	protein_coding	4/19						chr12	TogoVar
KSR2_chr12_117448012_117973990	117947187	AAAAGAAA others(35): Show AAAAGAAAGAAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03486.hp1 HG02572.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0127 a0001c0006t0016 a0001c0001t0127 a0001c0006t0016	a0001c0001t0127g0120 a0001c0006t0016g0081 a0001c0001t0127g0120 a0001c0006t0016g0081	2	196	0.0102	-42	c.180 others(61): Show c.180+20847_180+20888delCTTTCTTTCTTTCTTTCTTTCTTTTC TTTCTTTTCTTTCTTT		KSR2	ENSG00000171435.15	transcript	ENST00000339824.7	protein_coding	1/19						chr12	TogoVar
L3MBTL4_chr18_5949717_6419911	5958056	GAGAAGGA others(35): Show GAGAAGGAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	G G	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02258.hp1 HG02976.hp1 others(1): Show HG02080.hp1 HG02258.hp1 HG02976.hp1 NA19043.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0004 a0003c0005t0004 a0001c0001t0004 a0003c0005t0004	a0001c0001t0004g0055 a0001c0001t0004g0059 a0003c0005t0004g0085 others(1): Show a0001c0001t0004g0055 a0001c0001t0004g0059 a0003c0005t0004g0085 a0003c0005t0004g0086	4	94	0.0426	-42	c.167 others(61): Show c.1678-1711_1678-1670delTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTCCTTCT		L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	18/18						chr18	TogoVar
L3MBTL4_chr18_5949717_6419911	5958118	GAAGAAGA others(35): Show GAAGAAGAAGAAAAAGAAGAAGAAGAAGAAGAAGAAGAAGAAC	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02559.hp2 HG03195.hp1 others(3): Show HG01243.hp1 HG02559.hp2 HG03195.hp1 HG03486.hp1 HG04184.hp1 NA19009.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0004 a0002c0002 others(1): Show a0001c0001 a0001c0004 a0002c0002 a0005c0010	a0001c0001t0002 a0001c0004t0006 a0002c0002t0001 others(1): Show a0001c0001t0002 a0001c0004t0006 a0002c0002t0001 a0005c0010t0002	a0001c0001t0002g0044 a0001c0004t0006g0074 a0002c0002t0001g0032 others(3): Show a0001c0001t0002g0044 a0001c0004t0006g0074 a0002c0002t0001g0032 a0002c0002t0001g0064 a0002c0002t0001g0073 a0005c0010t0002g0089	6	94	0.0638	-42	c.167 others(61): Show c.1678-1773_1678-1732delGTTCTTCTTCTTCTTCTTCTTCTTCT TCTTTTTCTTCTTCTT		L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	18/18						chr18	TogoVar
LAMA2_chr6_128878138_129521566	128879459	ATATATAT others(35): Show ATATATATATATATATATGCCATTATATATATATATATGCCAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0021 a0003c0002t0002g0021	1	88	0.0114	-42	c.-37 others(53): Show c.-3786_-3745delTATATATATATATATATGCCATTATATATATATA TATGCCAT		LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding					3678		chr6	TogoVar
LAMP2_chrX_120421148_120474296	120429288	AGATTTTG others(35): Show AGATTTTGAGTTCTGGATTCAGACAGAACTGTGTTTAAATCTT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01167.hp1 HG01168.hp2 HG01169.hp1 others(13): Show HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01496.hp1 HG01891.hp1 HG02055.hp1 HG02109.hp1 HG02257.hp1 HG02257.hp2 HG02559.hp1 HG02723.hp2 HG03041.hp1 HG03540.hp1 HG03579.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0001t0014 a0001c0001t0015 others(5): Show a0001c0001t0007 a0001c0001t0014 a0001c0001t0015 a0001c0002t0007 a0001c0002t0015 a0001c0002t0019 a0001c0002t0036 a0001c0002t0037	a0001c0001t0007g0189 a0001c0001t0007g0190 a0001c0001t0014g0010 others(11): Show a0001c0001t0007g0189 a0001c0001t0007g0190 a0001c0001t0014g0010 a0001c0001t0015g0238 a0001c0002t0007g0027 a0001c0002t0007g0097 a0001c0002t0007g0098 a0001c0002t0007g0099 a0001c0002t0015g0101 a0001c0002t0015g0102 a0001c0002t0019g0094 a0001c0002t0019g0095 a0001c0002t0036g0096 a0001c0002t0037g0103	16	297	0.0539	-42	c.19 others(53): Show c.1993_*2034delAAGATTTAAACACAGTTCTGTCTGAATCCAGAAC TCAAAATC		LAMP2	ENSG00000005893.17	transcript	ENST00000200639.9	protein_coding	9/9				1993		chrX	TogoVar
LARGE1_chr22_33267509_33925476	33766907	CATATACA others(35): Show CATATACATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03453.hp1 NA18522.hp1 HG02559.hp2 HG03453.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0019 a0001c0001 a0001c0009 a0001c0019	a0001c0001t0005 a0001c0009t0003 a0001c0019t0003 a0001c0001t0005 a0001c0009t0003 a0001c0019t0003	a0001c0001t0005g0028 a0001c0009t0003g0084 a0001c0019t0003g0025 a0001c0001t0005g0028 a0001c0009t0003g0084 a0001c0019t0003g0025	3	110	0.0273	-42	c.-82 others(59): Show c.-82-5391_-82-5350delATATATATATATATATATATATATATAT ATATATATGTATAT		LARGE1	ENSG00000133424.22	transcript	ENST00000397394.8	protein_coding	1/14						chr22	TogoVar
LATS2_chr13_20968036_21066586	20969695	AAAATATA others(35): Show AAAATATATATATATATATATATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG03098.hp1 HG03209.hp1 HG02257.hp1 HG03098.hp1 HG03209.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0049 a0003c0005t0002g0071 a0003c0005t0002g0072 a0003c0005t0002g0049 a0003c0005t0002g0071 a0003c0005t0002g0072	3	316	0.0095	-42	c.51 others(53): Show c.5133_*5174delATATATATATATATATATATATATATATATATAT ATATATTT		LATS2	ENSG00000150457.9	transcript	ENST00000382592.5	protein_coding					3340		chr13	TogoVar
LCLAT1_chr2_30442246_30649225	30607845	CTGTGTGT others(35): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0106 a0001c0001t0005g0106	1	366	0.0027	-42	c.629 others(61): Show c.629-32258_629-32217delGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGT		LCLAT1	ENSG00000172954.14	transcript	ENST00000379509.8	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr2	TogoVar
LCN12_chr9_136947273_136960497	136953370	CCGGGCGC others(35): Show CCGGGCGCGGTCGCGCACACCTGTAATCCTAGCACTTTGGGGG	C C	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	382	0.0026	-42	c.252 others(57): Show c.252-328_252-287delGGGCGCGGTCGCGCACACCTGTAATCCTAG CACTTTGGGGGC		LCN12	ENSG00000184925.12	transcript	ENST00000371633.8	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr9	TogoVar
LCN12_chr9_136947273_136960497	136953378	GGTCGCGC others(35): Show GGTCGCGCACACCTGTAATCCTAGCACTTTGGGGGCCGGGCGC	G G	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	382	0.0026	-42	c.252 others(57): Show c.252-320_252-279delTCGCGCACACCTGTAATCCTAGCACTTTGG GGGCCGGGCGCG		LCN12	ENSG00000184925.12	transcript	ENST00000371633.8	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr9	TogoVar
LCTL_chr15_66542532_66570998	66568863	CACACACA others(35): Show CACACACACACACATATATATATATATATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	434	0.0023	-42	c.-30 others(53): Show c.-3071_-3030delATATATATATATATATATATATATATATATGTGT GTGTGTGT		LCTL	ENSG00000188501.12	transcript	ENST00000695545.1	protein_coding					2866		chr15	TogoVar

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Search Results (Total: 2011 hits)