Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
KMT5C_chr19_55334876_55353121	55338494	GTCTCTGT others(23): Show GTCTCTGTCTCTCTCTCTCTCTCTCTCTCTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	406	0.0025	-30	c.-16 others(41): Show c.-1606_-1577delTCTCTGTCTCTCTCTCTCTCTCTCTCTCTC		KMT5C	ENSG00000133247.14	transcript	ENST00000255613.8	protein_coding					1381		chr19	TogoVar
KMT5C_chr19_55334876_55353121	55338525	TCTCTCTC others(23): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCACA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp1 HG01943.hp2 HG01257.hp1 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	2	406	0.0049	-30	c.-15 others(41): Show c.-1575_-1546delCTCTCTCTCTCTCTCTCTCTCTCTCTCACA		KMT5C	ENSG00000133247.14	transcript	ENST00000255613.8	protein_coding					1350		chr19	TogoVar
KMT5C_chr19_55334876_55353121	55338529	TCTCTCTC others(23): Show TCTCTCTCTCTCTCTCTCTCTCTCACACACA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG03041.hp2 NA19030.hp2 others(1): Show HG02257.hp1 HG03041.hp2 NA19030.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0002 a0001c0006t0001 a0001c0001t0002 a0001c0006t0001	a0001c0001t0002g0036 a0001c0006t0001g0038 a0001c0006t0001g0107 a0001c0001t0002g0036 a0001c0006t0001g0038 a0001c0006t0001g0107	4	406	0.0099	-30	c.-15 others(41): Show c.-1571_-1542delCTCTCTCTCTCTCTCTCTCTCTCACACACA		KMT5C	ENSG00000133247.14	transcript	ENST00000255613.8	protein_coding					1346		chr19	TogoVar
KNDC1_chr10_133155219_133231412	133182925	ACGGTGTG others(23): Show ACGGTGTGGGCACAGGCGGTGTGGGCACAGG	A A	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG02523.hp2 HG01258.hp2 HG02523.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0002 a0001c0004t0001 a0001c0004t0002	a0001c0004t0001g0126 a0001c0004t0002g0211 a0001c0004t0001g0126 a0001c0004t0002g0211	2	332	0.0060	-30	c.361 others(45): Show c.361-385_361-356delTGTGGGCACAGGCGGTGTGGGCACAGGCGG		KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	3/29					INFO_REALIGN_3_PRIME	chr10	TogoVar
KNDC1_chr10_133155219_133231412	133182959	TGTGGGCA others(23): Show TGTGGGCACAGGCGGTGTGGGCACAGGCGGC	T T	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0144 a0001c0004t0007g0144	1	332	0.0030	-30	c.361 others(45): Show c.361-370_361-341delTGTGGGCACAGGCGGCGTGGGCACAGGCGG		KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	3/29					INFO_REALIGN_3_PRIME	chr10	TogoVar
KNG1_chr3_186712359_186749410	186718325	ACCACCAC others(23): Show ACCACCACCCACCACCCACCACCACCACCAC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(49): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00544.hp2 HG00558.hp1 HG00609.hp1 HG00735.hp1 HG01081.hp1 HG01167.hp2 HG01433.hp2 HG01928.hp2 HG01934.hp2 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02258.hp1 HG02273.hp1 HG02280.hp2 HG02293.hp2 HG02451.hp2 HG02486.hp1 HG02630.hp2 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp1 HG03491.hp2 HG03516.hp2 HG03540.hp1 HG03704.hp1 HG03710.hp1 HG04115.hp2 HG04204.hp2 HG04228.hp2 NA18522.hp1 NA18963.hp1 NA19003.hp2 NA19030.hp2 NA19043.hp1 NA19240.hp2 NA20129.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0004 a0002c0006 a0002c0011 others(3): Show a0001c0004 a0002c0006 a0002c0011 a0003c0007 a0003c0012 a0007c0021	a0001c0004t0004 a0002c0006t0001 a0002c0006t0002 others(19): Show a0001c0004t0004 a0002c0006t0001 a0002c0006t0002 a0002c0006t0003 a0002c0006t0004 a0002c0006t0008 a0002c0006t0010 a0002c0006t0013 a0002c0006t0018 a0002c0006t0033 a0002c0011t0004 a0002c0011t0006 a0002c0011t0014 a0003c0007t0007 a0003c0007t0009 a0003c0007t0016 a0003c0007t0040 a0003c0007t0041 a0003c0007t0042 a0003c0012t0001 a0003c0012t0003 a0007c0021t0021	a0001c0004t0004g0057 a0002c0006t0001g0080 a0002c0006t0001g0090 others(43): Show a0001c0004t0004g0057 a0002c0006t0001g0080 a0002c0006t0001g0090 a0002c0006t0002g0024 a0002c0006t0002g0060 a0002c0006t0002g0073 a0002c0006t0002g0084 a0002c0006t0002g0086 a0002c0006t0002g0089 a0002c0006t0003g0079 a0002c0006t0003g0083 a0002c0006t0004g0078 a0002c0006t0004g0082 a0002c0006t0008g0009 a0002c0006t0010g0072 a0002c0006t0010g0074 a0002c0006t0010g0087 a0002c0006t0013g0081 a0002c0006t0018g0009 a0002c0006t0033g0055 a0002c0011t0004g0058 a0002c0011t0004g0059 a0002c0011t0006g0022 a0002c0011t0006g0066 a0002c0011t0014g0068 a0003c0007t0007g0021 a0003c0007t0007g0062 a0003c0007t0007g0063 a0003c0007t0007g0071 a0003c0007t0007g0094 a0003c0007t0009g0064 a0003c0007t0016g0061 a0003c0007t0016g0065 a0003c0007t0016g0069 a0003c0007t0016g0092 a0003c0007t0040g0070 a0003c0007t0041g0056 a0003c0007t0042g0067 a0003c0012t0001g0088 a0003c0012t0003g0023 a0003c0012t0003g0025 a0003c0012t0003g0075 a0003c0012t0003g0076 a0003c0012t0003g0077 a0003c0012t0003g0085 a0007c0021t0021g0091	52	430	0.1209	-30	c.195 others(45): Show c.195+597_195+626delCACCACCCACCACCACCACCACCCACCACC		KNG1	ENSG00000113889.14	transcript	ENST00000644859.2	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
KNTC1_chr12_122522249_122631396	122579025	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03041.hp2 HG03139.hp2 others(3): Show HG02723.hp2 HG03041.hp2 HG03139.hp2 HG03225.hp1 HG03471.hp1 HG06807.hp1	a0002 a0020 a0002 a0020	a0002c0003 a0020c0037 a0002c0003 a0020c0037	a0002c0003t0001 a0020c0037t0001 a0002c0003t0001 a0020c0037t0001	a0002c0003t0001g0124 a0002c0003t0001g0291 a0002c0003t0001g0293 others(3): Show a0002c0003t0001g0124 a0002c0003t0001g0291 a0002c0003t0001g0293 a0002c0003t0001g0294 a0002c0003t0001g0296 a0020c0037t0001g0292	6	320	0.0188	-30	c.284 others(47): Show c.2842-852_2842-823delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT		KNTC1	ENSG00000184445.12	transcript	ENST00000333479.12	protein_coding	31/63					INFO_REALIGN_3_PRIME	chr12	TogoVar
KPNA5_chr6_116676211_116746867	116732074	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02559.hp1 HG02630.hp2 others(4): Show HG02055.hp1 HG02559.hp1 HG02630.hp2 HG02723.hp2 HG03139.hp2 HG03225.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0029 a0001c0001t0001 a0001c0001t0009 a0001c0001t0029	a0001c0001t0001g0115 a0001c0001t0009g0166 a0001c0001t0009g0167 others(4): Show a0001c0001t0001g0115 a0001c0001t0009g0166 a0001c0001t0009g0167 a0001c0001t0009g0224 a0001c0001t0009g0279 a0001c0001t0009g0294 a0001c0001t0029g0156	7	344	0.0204	-30	c.143 others(45): Show c.1433-43_1433-14delTATATATATATATATATATATATATATATA		KPNA5	ENSG00000196911.12	transcript	ENST00000368564.7	protein_coding	13/13					INFO_REALIGN_3_PRIME	chr6	TogoVar
KPNA7_chr7_99168572_99213115	99181163	CTCTCCGT others(23): Show CTCTCCGTCTGTGTCTCTCTCTCCGTCTGTG	C C	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0005 a0005	a0005c0019 a0005c0019	a0005c0019t0001 a0005c0019t0001	a0005c0019t0001g0153 a0005c0019t0001g0153	1	334	0.0030	-30	c.131 others(47): Show c.1317+690_1317+719delCACAGACGGAGAGAGAGACACAGACGGA GA		KPNA7	ENSG00000185467.8	transcript	ENST00000327442.7	protein_coding	9/10						chr7	TogoVar
KRT18_chr12_52944118_52957906	52954933	GTATGTAT others(23): Show GTATGTATATATATACATATATACATACATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02895.hp2 HG02897.hp2 others(3): Show HG02886.hp1 HG02895.hp2 HG02897.hp2 HG02976.hp1 HG03098.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	6	406	0.0148	-30	c.20 others(41): Show c.2092_*2121delTATGTATATATATACATATATACATACATA		KRT18	ENSG00000111057.11	transcript	ENST00000388835.4	protein_coding					2028		chr12	TogoVar
KRT24_chr17_40692991_40708752	40701723	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02040.hp2 HG02056.hp1 others(8): Show HG00558.hp1 HG02040.hp2 HG02056.hp1 HG02074.hp1 HG02165.hp1 HG02895.hp1 HG03471.hp2 HG03540.hp1 NA18960.hp2 NA19064.hp2 NA19086.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0002 a0006c0006t0001 a0001c0001t0002 a0006c0006t0001	a0001c0001t0002g0008 a0001c0001t0002g0087 a0006c0006t0001g0033 a0001c0001t0002g0008 a0001c0001t0002g0087 a0006c0006t0001g0033	11	424	0.0259	-30	c.698 others(44): Show c.698+98_698+127delTATATATATATATATATATATATATATATA		KRT24	ENSG00000167916.5	transcript	ENST00000264651.3	protein_coding	2/7						chr17	TogoVar
KRT24_chr17_40692991_40708752	40701751	ATATATAT others(23): Show ATATATATATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0137 a0002c0002t0001g0137	1	424	0.0024	-30	c.698 others(43): Show c.698+70_698+99delAATATATATATATATATATATATATATATA		KRT24	ENSG00000167916.5	transcript	ENST00000264651.3	protein_coding	2/7						chr17	TogoVar
KRT40_chr17_40972715_40989326	40974593	CCTCCCTC others(23): Show CCTCCCTCCCTCCCTCCTTCCTTCGTTCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	451	0.0022	-30	c.35 others(41): Show c.3574_*3603delACGGAACGAAGGAAGGAGGGAGGGAGGGAG		KRT40	ENSG00000204889.11	transcript	ENST00000377755.9	protein_coding					3121		chr17	TogoVar
KRT4_chr12_52801549_52819116	52812516	GACTTTCC others(23): Show GACTTTCCTGAACTTTCCCTCTCTCTATGAA	G G	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	470	0.0021	-30	c.463 others(45): Show c.463-569_463-540delTTCATAGAGAGAGGGAAAGTTCAGGAAAGT		KRT4	ENSG00000170477.13	transcript	ENST00000551956.2	protein_coding	1/8						chr12	TogoVar
KRT82_chr12_52388931_52411335	52406581	ACAGATAT others(23): Show ACAGATATGTTCCATGTATCCAGTGGCTCAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0013 a0004c0004t0013	a0004c0004t0013g0033 a0004c0004t0013g0033	1	370	0.0027	-30	c.-33 others(39): Show c.-334_-305delCTGAGCCACTGGATACATGGAACATATCTG		KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding					247		chr12	TogoVar
KRT82_chr12_52388931_52411335	52410680	CAATAAAA others(23): Show CAATAAAAAAAAAAAAAAAAAGAGTCAACAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0007 a0003c0003t0007	a0003c0003t0007g0017 a0003c0003t0007g0017	1	370	0.0027	-30	c.-44 others(41): Show c.-4433_-4404delCTGTTGACTCTTTTTTTTTTTTTTTTTATT		KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding					4346		chr12	TogoVar
KRT8_chr12_52892191_52910076	52908884	TAGTCCCA others(23): Show TAGTCCCAGCTGCCCTGGAGGCTGAGTTGTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0017 a0004c0006t0001g0017	1	386	0.0026	-30	c.-39 others(41): Show c.-3933_-3904delCACAACTCAGCCTCCAGGGCAGCTGGGACT		KRT8	ENSG00000170421.13	transcript	ENST00000692008.1	protein_coding					3809		chr12	TogoVar
KRTAP1-1_chr17_41035541_41046450	41041267	CAGCTGGT others(23): Show CAGCTGGTCTCACAGCAGCGTGGCTGGCAGG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA19030.hp2 NA19030.hp2	a0009 a0009	a0009c0015 a0009c0015	a0009c0015t0001 a0009c0015t0001	a0009c0015t0001g0000 a0009c0015t0001g0000	1	403	0.0025	-30	c.101 others(37): Show c.101_130delCCTGCCAGCCACGCTGCTGTGAGACCAGCT	p.Ser others(11): Show p.Ser34_Ser43del	KRTAP1-1	ENSG00000188581.9	transcript	ENST00000306271.5	protein_coding	1/1	183/910	101/534	34/177			chr17	TogoVar
KRTAP1-4_chr17_41024351_41035195	41026898	GCAGCAGC others(23): Show GCAGCAGCTTGGCTGGCAGCAGCTGGTCTCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	1	429	0.0023	-30	c.27 others(41): Show c.2785_*2814delTGAGACCAGCTGCTGCCAGCCAAGCTGCTG		KRTAP1-4	ENSG00000204887.5	transcript	ENST00000377747.5	protein_coding					2452		chr17	TogoVar
KRTAP1-5_chr17_41021026_41032208	41026898	GCAGCAGC others(23): Show GCAGCAGCTTGGCTGGCAGCAGCTGGTCTCA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA19086.hp1 NA19086.hp1	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0002 a0009c0009t0002	a0009c0009t0002g0000 a0009c0009t0002g0000	1	429	0.0023	-30	c.228 others(37): Show c.228_257delTGAGACCAGCTGCTGCCAGCCAAGCTGCTG	p.Glu others(11): Show p.Glu77_Cys86del	KRTAP1-5	ENSG00000221852.5	transcript	ENST00000361883.6	protein_coding	1/1	310/1183	228/525	76/174			chr17	TogoVar
KRTAP10-3_chr21_44552790_44563795	44558380	GGGCACAC others(23): Show GGGCACACAGCAGACTGGCTTGCAGCAGACA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03453.hp1 HG03453.hp1	a0016 a0016	a0016c0029 a0016c0029	a0016c0029t0001 a0016c0029t0001	a0016c0029t0001g0000 a0016c0029t0001g0000	1	468	0.0021	-30	c.306 others(37): Show c.306_335delTGTCTGCTGCAAGCCAGTCTGCTGTGTGCC	p.Val others(13): Show p.Val103_Pro112del	KRTAP10-3	ENSG00000212935.2	transcript	ENST00000391620.2	protein_coding	1/1	415/1006	306/666	102/221			chr21	TogoVar
KRTAP2-1_chr17_41041541_41052316	41049100	AGATCTGT others(23): Show AGATCTGTCTCTCCCCTTTATAAGGATCTGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	407	0.0025	-30	c.-18 others(41): Show c.-1863_-1834delACAGATCCTTATAAAGGGGAGAGACAGATC		KRTAP2-1	ENSG00000212725.4	transcript	ENST00000391419.3	protein_coding					1785		chr17	TogoVar
KRTAP2-1_chr17_41041541_41052316	41050976	TTATATAT others(23): Show TTATATATAGTAAAATATATATAATATATTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02886.hp1 HG02615.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	407	0.0049	-30	c.-37 others(41): Show c.-3739_-3710delTAATATATTATATATATTTTACTATATATA		KRTAP2-1	ENSG00000212725.4	transcript	ENST00000391419.3	protein_coding					3661		chr17	TogoVar
KRTAP2-1_chr17_41041541_41052316	41051004	TTATATAT others(23): Show TTATATATATAGTAAAATATATATAATATAT	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	407	0.0025	-30	c.-37 others(41): Show c.-3767_-3738delATATATTATATATATTTTACTATATATATA		KRTAP2-1	ENSG00000212725.4	transcript	ENST00000391419.3	protein_coding					3689		chr17	TogoVar
KRTAP2-2_chr17_41049498_41060230	41050976	TTATATAT others(23): Show TTATATATAGTAAAATATATATAATATATTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02886.hp2 HG02615.hp1 HG02886.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0004 a0004c0005t0004	a0004c0005t0004g0000 a0004c0005t0004g0000	2	411	0.0049	-30	c.38 others(41): Show c.3834_*3863delTAATATATTATATATATTTTACTATATATA		KRTAP2-2	ENSG00000214518.4	transcript	ENST00000398477.1	protein_coding					3521		chr17	TogoVar
KRTAP2-2_chr17_41049498_41060230	41051004	TTATATAT others(23): Show TTATATATATAGTAAAATATATATAATATAT	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	411	0.0024	-30	c.38 others(41): Show c.3806_*3835delATATATTATATATATTTTACTATATATATA		KRTAP2-2	ENSG00000214518.4	transcript	ENST00000398477.1	protein_coding					3493		chr17	TogoVar
KRTAP4-16_chr17_41096502_41107209	41105856	CTCCAGCT others(23): Show CTCCAGCTGCTGCCGCCCCTCTTGCTGTGAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00423.hp1 HG00597.hp1 others(53): Show HG00323.hp1 HG00423.hp1 HG00597.hp1 HG00639.hp2 HG00673.hp1 HG00738.hp2 HG01081.hp2 HG01106.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp1 HG01243.hp1 HG01261.hp1 HG01346.hp1 HG01496.hp2 HG01928.hp1 HG01934.hp2 HG01975.hp2 HG02074.hp1 HG02132.hp2 HG02135.hp1 HG02293.hp2 HG02451.hp1 HG02523.hp2 HG02559.hp2 HG02976.hp2 HG03041.hp2 HG03139.hp1 HG03195.hp1 HG03453.hp2 HG03540.hp2 NA18747.hp1 NA18939.hp1 NA18941.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp2 NA18948.hp2 NA18952.hp1 NA18959.hp2 NA18960.hp1 NA18967.hp2 NA18981.hp2 NA18984.hp1 NA18986.hp2 NA18992.hp1 NA19000.hp2 NA19005.hp2 NA19006.hp2 NA19056.hp1 NA19064.hp1 NA19070.hp1 NA19080.hp2 NA20129.hp2	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0010	a0001c0023 a0002c0003 a0002c0011 others(3): Show a0001c0023 a0002c0003 a0002c0011 a0002c0014 a0008c0012 a0010c0015	a0001c0023t0000 a0002c0003t0000 a0002c0011t0000 others(3): Show a0001c0023t0000 a0002c0003t0000 a0002c0011t0000 a0002c0014t0000 a0008c0012t0000 a0010c0015t0000	a0001c0023t0000g0000 a0002c0003t0000g0000 a0002c0011t0000g0000 others(3): Show a0001c0023t0000g0000 a0002c0003t0000g0000 a0002c0011t0000g0000 a0002c0014t0000g0000 a0008c0012t0000g0000 a0010c0015t0000g0000	56	423	0.1324	-30	c.-36 others(41): Show c.-3677_-3648delTTCACAGCAAGAGGGGCGGCAGCAGCTGGA		KRTAP4-16	ENSG00000241241.1	transcript	ENST00000440582.1	protein_coding					3648		chr17	TogoVar
KRTAP4-4_chr17_41154649_41165748	41158501	GGAAGAAG others(23): Show GGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 NA19070.hp2 HG00099.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	420	0.0048	-30	c.16 others(41): Show c.1660_*1689delTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC		KRTAP4-4	ENSG00000171396.12	transcript	ENST00000390661.5	protein_coding					1147		chr17	TogoVar
KRTAP4-4_chr17_41154649_41165748	41158549	AGAAGAAG others(23): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	420	0.0024	-30	c.16 others(41): Show c.1612_*1641delCTCTTCTTCTTCTTCTTCTTCTTCTTCTTC		KRTAP4-4	ENSG00000171396.12	transcript	ENST00000390661.5	protein_coding					1099		chr17	TogoVar
KRTAP4-4_chr17_41154649_41165748	41158552	AGAAGAAG others(23): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAGGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0000 a0002c0002t0003g0000	1	420	0.0024	-30	c.16 others(41): Show c.1609_*1638delCTCCTCTTCTTCTTCTTCTTCTTCTTCTTC		KRTAP4-4	ENSG00000171396.12	transcript	ENST00000390661.5	protein_coding					1096		chr17	TogoVar
KRTAP4-4_chr17_41154649_41165748	41161774	GCGTGTGT others(23): Show GCGTGTGTGTGTGTATATATATATATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0000 a0002c0002t0003g0000	1	420	0.0024	-30	c.-11 others(41): Show c.-1113_-1084delTATATATATATATATATACACACACACACG		KRTAP4-4	ENSG00000171396.12	transcript	ENST00000390661.5	protein_coding					1027		chr17	TogoVar
KRTAP5-10_chr11_71560563_71571735	71566054	CCTGCTGC others(23): Show CCTGCTGCCAGTCCAGCTGCTGCAATCCCTG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03540.hp2 HG03540.hp2	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0004 a0008c0013t0004	a0008c0013t0004g0000 a0008c0013t0004g0000	1	468	0.0021	-30	c.489 others(37): Show c.489_518delCAATCCCTGCTGCTGCCAGTCCAGCTGCTG	p.Asn others(13): Show p.Asn164_Cys173del	KRTAP5-10	ENSG00000204572.10	transcript	ENST00000398531.3	protein_coding	1/1	514/1173	489/609	163/202		INFO_REALIGN_3_PRIME	chr11	TogoVar
KRTAP5-10_chr11_71560563_71571735	71568793	ATGTTCCC others(23): Show ATGTTCCCGGTCCAGCTGCTGCAAGTCCTGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0000 a0002c0002t0006g0000	1	468	0.0021	-30	c.25 others(41): Show c.2598_*2627delTGTTCCCGGTCCAGCTGCTGCAAGTCCTGC		KRTAP5-10	ENSG00000204572.10	transcript	ENST00000398531.3	protein_coding					2059		chr11	TogoVar
KRTAP5-10_chr11_71560563_71571735	71568831	GGTCCAGC others(23): Show GGTCCAGCTGCTGCAAGCCCTGCTGCTCCCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00621.hp2 HG00639.hp2 others(63): Show HG00558.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp2 HG01123.hp2 HG01175.hp2 HG01192.hp1 HG01257.hp2 HG01346.hp1 HG01358.hp2 HG01891.hp1 HG01891.hp2 HG01975.hp1 HG01993.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp2 HG02615.hp2 HG02622.hp1 HG02717.hp1 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02886.hp2 HG02896.hp2 HG02965.hp2 HG02970.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03491.hp1 HG03540.hp1 HG03579.hp2 HG03927.hp2 NA18522.hp1 NA18956.hp2 NA18961.hp1 NA18963.hp1 NA18964.hp2 NA18968.hp1 NA18971.hp2 NA18979.hp2 NA18987.hp1 NA18988.hp1 NA18989.hp2 NA18992.hp2 NA18993.hp2 NA18994.hp1 NA18995.hp2 NA19003.hp2 NA19007.hp1 NA19010.hp2 NA19030.hp1 NA19057.hp1 NA19058.hp1 NA19064.hp2 NA19074.hp2 NA19082.hp2 NA19088.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0007 a0010 a0011 a0012	a0001c0001 a0002c0002 a0003c0003 others(5): Show a0001c0001 a0002c0002 a0003c0003 a0004c0006 a0007c0012 a0010c0014 a0011c0011 a0012c0010	a0001c0001t0001 a0001c0001t0004 a0002c0002t0002 others(7): Show a0001c0001t0001 a0001c0001t0004 a0002c0002t0002 a0002c0002t0003 a0003c0003t0002 a0004c0006t0002 a0007c0012t0002 a0010c0014t0002 a0011c0011t0002 a0012c0010t0002	a0001c0001t0001g0000 a0001c0001t0004g0000 a0002c0002t0002g0000 others(7): Show a0001c0001t0001g0000 a0001c0001t0004g0000 a0002c0002t0002g0000 a0002c0002t0003g0000 a0003c0003t0002g0000 a0004c0006t0002g0000 a0007c0012t0002g0000 a0010c0014t0002g0000 a0011c0011t0002g0000 a0012c0010t0002g0000	66	468	0.1410	-30	c.26 others(41): Show c.2636_*2665delGTCCAGCTGCTGCAAGCCCTGCTGCTCCCA		KRTAP5-10	ENSG00000204572.10	transcript	ENST00000398531.3	protein_coding					2097		chr11	TogoVar
KRTAP5-1_chr11_1579342_1590283	1584890	ACCACAGC others(23): Show ACCACAGCCACCCTTGGATCCCCCACAAGAG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(209): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02257.hp2 HG02293.hp1 HG02300.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG03704.hp1 HG03710.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18940.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18963.hp2 NA18965.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18973.hp1 NA18974.hp2 NA18975.hp2 NA18976.hp2 NA18978.hp1 NA18979.hp1 NA18980.hp2 NA18981.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp2 NA18988.hp1 NA18989.hp2 NA18991.hp1 NA18993.hp1 NA18993.hp2 NA18995.hp2 NA18999.hp2 NA19000.hp2 NA19002.hp2 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19030.hp2 NA19043.hp2 NA19058.hp2 NA19059.hp2 NA19060.hp1 NA19062.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp2 NA19070.hp2 NA19077.hp1 NA19078.hp1 NA19080.hp1 NA19081.hp1 NA19082.hp1 NA19083.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0003 a0004 others(4): Show a0002 a0003 a0004 a0005 a0006 a0010 a0014	a0002c0002 a0002c0018 a0003c0003 others(7): Show a0002c0002 a0002c0018 a0003c0003 a0003c0015 a0003c0016 a0004c0004 a0005c0005 a0006c0009 a0010c0017 a0014c0007	a0002c0002t0001 a0002c0018t0001 a0003c0003t0001 others(7): Show a0002c0002t0001 a0002c0018t0001 a0003c0003t0001 a0003c0015t0001 a0003c0016t0001 a0004c0004t0001 a0005c0005t0001 a0006c0009t0001 a0010c0017t0001 a0014c0007t0001	a0002c0002t0001g0000 a0002c0018t0001g0000 a0003c0003t0001g0000 others(7): Show a0002c0002t0001g0000 a0002c0018t0001g0000 a0003c0003t0001g0000 a0003c0015t0001g0000 a0003c0016t0001g0000 a0004c0004t0001g0000 a0005c0005t0001g0000 a0006c0009t0001g0000 a0010c0017t0001g0000 a0014c0007t0001g0000	212	429	0.4942	-30	c.330 others(37): Show c.330_359delCTCTTGTGGGGGATCCAAGGGTGGCTGTGG	p.Ser others(13): Show p.Ser111_Gly120del	KRTAP5-1	ENSG00000205869.2	transcript	ENST00000382171.2	protein_coding	1/1	393/942	330/837	110/278			chr11	TogoVar
KRTAP5-1_chr11_1579342_1590283	1585007	GGAGCCAC others(23): Show GGAGCCACAGCCCCCCTTGGAGCCCCCAGAA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18952.hp2 NA18952.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0000 a0006c0009t0001g0000	1	429	0.0023	-30	c.213 others(37): Show c.213_242delTTCTGGGGGCTCCAAGGGGGGCTGTGGCTC	p.Ser others(11): Show p.Ser72_Ser81del	KRTAP5-1	ENSG00000205869.2	transcript	ENST00000382171.2	protein_coding	1/1	276/942	213/837	71/278			chr11	TogoVar
KRTAP5-2_chr11_1592177_1603294	1597924	ACCACAGC others(23): Show ACCACAGCCCCCCTTGGAACCCCCACAGGAG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0000 a0001c0006t0001g0000	1	412	0.0024	-30	c.297 others(37): Show c.297_326delCTCCTGTGGGGGTTCCAAGGGGGGCTGTGG	p.Ser others(13): Show p.Ser100_Gly109del	KRTAP5-2	ENSG00000205867.3	transcript	ENST00000412090.2	protein_coding	1/1	370/1118	297/534	99/177			chr11	TogoVar
KRTAP5-2_chr11_1592177_1603294	1597942	ACCCCCAC others(23): Show ACCCCCACAGGAGCCACAGCCCCCCTTGGAG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(202): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01358.hp2 HG01433.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02145.hp1 HG02155.hp1 HG02257.hp1 HG02293.hp2 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03704.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18949.hp1 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp1 NA18959.hp2 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18974.hp2 NA18975.hp1 NA18977.hp1 NA18978.hp1 NA18979.hp2 NA18980.hp2 NA18983.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18995.hp2 NA18999.hp2 NA19000.hp2 NA19001.hp1 NA19002.hp2 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19009.hp2 NA19030.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19059.hp2 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19077.hp2 NA19081.hp2 NA19082.hp2 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA19090.hp1 NA19240.hp1 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0007t0001	a0001c0001t0001g0000 a0001c0001t0004g0000 a0001c0001t0005g0000 others(1): Show a0001c0001t0001g0000 a0001c0001t0004g0000 a0001c0001t0005g0000 a0001c0007t0001g0000	205	412	0.4976	-30	c.279 others(37): Show c.279_308delCTCCAAGGGGGGCTGTGGCTCCTGTGGGGG	p.Ser others(12): Show p.Ser94_Gly103del	KRTAP5-2	ENSG00000205867.3	transcript	ENST00000412090.2	protein_coding	1/1	352/1118	279/534	93/177			chr11	TogoVar
KRTAP5-4_chr11_1615958_1627138	1621524	ACAGCAGC others(23): Show ACAGCAGCTGGACTGGCAGCAGTAGGGCTTG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02647.hp2 HG03688.hp2 HG02647.hp2 HG03688.hp2	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0001 a0009c0009t0009 a0009c0009t0001 a0009c0009t0009	a0009c0009t0001g0000 a0009c0009t0009g0000 a0009c0009t0001g0000 a0009c0009t0009g0000	2	427	0.0047	-30	c.540 others(37): Show c.540_569delCAAGCCCTACTGCTGCCAGTCCAGCTGCTG	p.Lys others(13): Show p.Lys181_Cys190del	KRTAP5-4	ENSG00000241598.6	transcript	ENST00000399682.1	protein_coding	1/1	614/1181	540/687	180/228			chr11	TogoVar
KRTAP5-4_chr11_1615958_1627138	1621822	CAGCCCCC others(23): Show CAGCCCCCCTTGGAACCCCCACAAGAGCCAT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA20300.hp1 NA20300.hp1	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0002 a0010c0011t0002	a0010c0011t0002g0000 a0010c0011t0002g0000	1	427	0.0023	-30	c.242 others(37): Show c.242_271delATGGCTCTTGTGGGGGTTCCAAGGGGGGCT	p.Tyr others(11): Show p.Tyr81_Gly90del	KRTAP5-4	ENSG00000241598.6	transcript	ENST00000399682.1	protein_coding	1/1	316/1181	242/687	81/228			chr11	TogoVar
KRTAP5-5_chr11_1624775_1635930	1629968	GAGGCTGT others(23): Show GAGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01243.hp2 HG01243.hp2	a0023 a0023	a0023c0020 a0023c0020	a0023c0020t0005 a0023c0020t0005	a0023c0020t0005g0000 a0023c0020t0005g0000	1	445	0.0023	-30	c.129 others(37): Show c.129_158delAGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	p.Gly others(11): Show p.Gly44_Ala53del	KRTAP5-5	ENSG00000185940.11	transcript	ENST00000399676.4	protein_coding	1/1	195/1156	129/714	43/237			chr11	TogoVar
KRTAP5-5_chr11_1624775_1635930	1629969	AGGCTGTG others(23): Show AGGCTGTGGGGGCTGTGGCTCCGGCTGTGCG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03579.hp2 HG03579.hp2	a0015 a0015	a0015c0029 a0015c0029	a0015c0029t0001 a0015c0029t0001	a0015c0029t0001g0000 a0015c0029t0001g0000	1	445	0.0023	-30	c.141 others(37): Show c.141_170delCTGTGGCTCCGGCTGTGCGGGCTGTGGGGG	p.Cys others(11): Show p.Cys48_Gly57del	KRTAP5-5	ENSG00000185940.11	transcript	ENST00000399676.4	protein_coding	1/1	207/1156	141/714	47/237		INFO_REALIGN_3_PRIME	chr11	TogoVar
KRTAP5-5_chr11_1624775_1635930	1630133	GCTGTGTC others(23): Show GCTGTGTCTCCTGTGGGGTGTCCAAGGGGGC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18976.hp1 NA18976.hp1	a0016 a0016	a0016c0023 a0016c0023	a0016c0023t0001 a0016c0023t0001	a0016c0023t0001g0000 a0016c0023t0001g0000	1	445	0.0023	-30	c.299 others(37): Show c.299_328delTCTCCTGTGGGGTGTCCAAGGGGGCCTGTG	p.Val others(13): Show p.Val100_Cys109del	KRTAP5-5	ENSG00000185940.11	transcript	ENST00000399676.4	protein_coding	1/1	365/1156	299/714	100/237		INFO_REALIGN_3_PRIME	chr11	TogoVar
KRTAP5-5_chr11_1624775_1635930	1630163	CCTGTGGC others(23): Show CCTGTGGCTCCTGTGGGGGGTCCAAGGGGGG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(264): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18949.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18962.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18973.hp1 NA18974.hp1 NA18977.hp1 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18983.hp1 NA18987.hp1 NA18987.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp2 NA19001.hp2 NA19002.hp1 NA19003.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19063.hp1 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp2 NA19070.hp2 NA19072.hp1 NA19074.hp1 NA19077.hp1 NA19078.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19082.hp1 NA19084.hp1 NA19085.hp2 NA19087.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(8): Show a0001 a0003 a0004 a0006 a0008 a0011 a0012 a0015 a0022 a0025 a0026	a0001c0001 a0001c0007 a0001c0030 others(11): Show a0001c0001 a0001c0007 a0001c0030 a0003c0003 a0004c0004 a0006c0006 a0008c0011 a0008c0025 a0011c0010 a0012c0016 a0015c0029 a0022c0021 a0025c0018 a0026c0017	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(16): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0007t0001 a0001c0007t0006 a0001c0030t0001 a0003c0003t0003 a0004c0004t0001 a0006c0006t0001 a0008c0011t0005 a0008c0025t0005 a0011c0010t0001 a0012c0016t0001 a0015c0029t0001 a0022c0021t0001 a0025c0018t0003 a0026c0017t0003	a0001c0001t0001g0000 a0001c0001t0006g0000 a0001c0001t0007g0000 others(16): Show a0001c0001t0001g0000 a0001c0001t0006g0000 a0001c0001t0007g0000 a0001c0001t0010g0000 a0001c0001t0011g0000 a0001c0007t0001g0000 a0001c0007t0006g0000 a0001c0030t0001g0000 a0003c0003t0003g0000 a0004c0004t0001g0000 a0006c0006t0001g0000 a0008c0011t0005g0000 a0008c0025t0005g0000 a0011c0010t0001g0000 a0012c0016t0001g0000 a0015c0029t0001g0000 a0022c0021t0001g0000 a0025c0018t0003g0000 a0026c0017t0003g0000	267	445	0.6000	-30	c.420 others(37): Show c.420_449delCTCCTGTGGGGGGTCCAAGGGGGGCTGTGG	p.Ser others(13): Show p.Ser141_Gly150del	KRTAP5-5	ENSG00000185940.11	transcript	ENST00000399676.4	protein_coding	1/1	486/1156	420/714	140/237		INFO_REALIGN_3_PRIME	chr11	TogoVar
KRTAP5-5_chr11_1624775_1635930	1630355	CCTGCTGC others(23): Show CCTGCTGCCAGTCCAGCTGCTGTAAGCCTTA	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00140.hp1 HG00323.hp1 HG00323.hp2 others(67): Show HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00639.hp1 HG00642.hp2 HG00733.hp2 HG00741.hp2 HG01074.hp2 HG01081.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01243.hp2 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01516.hp1 HG01884.hp2 HG01891.hp1 HG02080.hp2 HG02145.hp1 HG02257.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02965.hp1 HG02970.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp2 HG03471.hp2 HG03491.hp1 HG03579.hp2 HG04115.hp1 HG04184.hp1 NA18522.hp1 NA18906.hp1 NA18946.hp1 NA18960.hp2 NA18975.hp1 NA18982.hp1 NA18995.hp2 NA19030.hp1 NA19085.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2	a0001 a0005 a0006 others(10): Show a0001 a0005 a0006 a0007 a0008 a0009 a0011 a0012 a0013 a0015 a0018 a0023 a0024	a0001c0007 a0005c0005 a0006c0006 others(11): Show a0001c0007 a0005c0005 a0006c0006 a0007c0008 a0008c0011 a0008c0025 a0009c0009 a0011c0010 a0012c0016 a0013c0015 a0015c0029 a0018c0026 a0023c0020 a0024c0019	a0001c0007t0001 a0001c0007t0006 a0005c0005t0004 others(12): Show a0001c0007t0001 a0001c0007t0006 a0005c0005t0004 a0006c0006t0001 a0007c0008t0005 a0008c0011t0005 a0008c0025t0005 a0009c0009t0004 a0011c0010t0001 a0012c0016t0001 a0013c0015t0008 a0015c0029t0001 a0018c0026t0001 a0023c0020t0005 a0024c0019t0004	a0001c0007t0001g0000 a0001c0007t0006g0000 a0005c0005t0004g0000 others(12): Show a0001c0007t0001g0000 a0001c0007t0006g0000 a0005c0005t0004g0000 a0006c0006t0001g0000 a0007c0008t0005g0000 a0008c0011t0005g0000 a0008c0025t0005g0000 a0009c0009t0004g0000 a0011c0010t0001g0000 a0012c0016t0001g0000 a0013c0015t0008g0000 a0015c0029t0001g0000 a0018c0026t0001g0000 a0023c0020t0005g0000 a0024c0019t0004g0000	70	445	0.1573	-30	c.543 others(37): Show c.543_572delTTACTGCTGCCAGTCCAGCTGCTGTAAGCC	p.Tyr others(13): Show p.Tyr182_Pro191del	KRTAP5-5	ENSG00000185940.11	transcript	ENST00000399676.4	protein_coding	1/1	609/1156	543/714	181/237		INFO_REALIGN_3_PRIME	chr11	TogoVar
KRTAP5-5_chr11_1624775_1635930	1630383	TTACTGCT others(23): Show TTACTGCTGCCAGTCCAGCTGCTGTAAGCCC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00408.hp1 HG00408.hp2 others(186): Show HG00099.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp2 HG01074.hp1 HG01099.hp2 HG01106.hp1 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG01891.hp2 HG01943.hp1 HG01952.hp1 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02155.hp2 HG02257.hp2 HG02258.hp2 HG02300.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02818.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03225.hp2 HG03239.hp2 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18949.hp2 NA18952.hp1 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18959.hp2 NA18960.hp1 NA18962.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18974.hp1 NA18976.hp1 NA18979.hp1 NA18980.hp2 NA18981.hp1 NA18983.hp1 NA18987.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp2 NA19001.hp2 NA19002.hp1 NA19003.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19057.hp1 NA19057.hp2 NA19063.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19077.hp1 NA19078.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19082.hp1 NA19084.hp1 NA19085.hp2 NA19087.hp2 NA19089.hp2 NA19090.hp1 NA20129.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0010 others(5): Show a0001 a0004 a0010 a0016 a0017 a0020 a0021 a0022	a0001c0001 a0001c0030 a0004c0004 others(6): Show a0001c0001 a0001c0030 a0004c0004 a0010c0012 a0016c0023 a0017c0024 a0020c0028 a0021c0022 a0022c0021	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(10): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0030t0001 a0004c0004t0001 a0010c0012t0001 a0016c0023t0001 a0017c0024t0009 a0020c0028t0001 a0021c0022t0001 a0022c0021t0001	a0001c0001t0001g0000 a0001c0001t0006g0000 a0001c0001t0007g0000 others(10): Show a0001c0001t0001g0000 a0001c0001t0006g0000 a0001c0001t0007g0000 a0001c0001t0010g0000 a0001c0001t0011g0000 a0001c0030t0001g0000 a0004c0004t0001g0000 a0010c0012t0001g0000 a0016c0023t0001g0000 a0017c0024t0009g0000 a0020c0028t0001g0000 a0021c0022t0001g0000 a0022c0021t0001g0000	189	445	0.4247	-30	c.575 others(37): Show c.575_604delACTGCTGCCAGTCCAGCTGCTGTAAGCCCT	p.Tyr others(13): Show p.Tyr192_Pro201del	KRTAP5-5	ENSG00000185940.11	transcript	ENST00000399676.4	protein_coding	1/1	641/1156	575/714	192/237		INFO_REALIGN_3_PRIME	chr11	TogoVar
KRTAP5-7_chr11_71522267_71533669	71527466	AGCTGTGG others(23): Show AGCTGTGGCTCCTGTGGGGGCTCCAAGGGAG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01346.hp2 HG01496.hp2 HG03927.hp1 HG01346.hp2 HG01496.hp2 HG03927.hp1	a0007 a0009 a0007 a0009	a0007c0007 a0009c0010 a0007c0007 a0009c0010	a0007c0007t0001 a0009c0010t0001 a0007c0007t0001 a0009c0010t0001	a0007c0007t0001g0000 a0009c0010t0001g0000 a0007c0007t0001g0000 a0009c0010t0001g0000	3	460	0.0065	-30	c.195 others(37): Show c.195_224delAGGCTGTGGCTCCTGTGGGGGCTCCAAGGG	p.Gly others(11): Show p.Gly66_Gly75del	KRTAP5-7	ENSG00000244411.4	transcript	ENST00000398536.6	protein_coding	1/1	229/1403	195/498	65/165		INFO_REALIGN_3_PRIME	chr11	TogoVar
KRTAP9-2_chr17_41221648_41232652	41226922	TGCTGTGG others(23): Show TGCTGTGGGTCCAGCTGCTGTGGCCAAACCA	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00558.hp2 NA18950.hp2 NA18951.hp2 others(7): Show HG00558.hp2 NA18950.hp2 NA18951.hp2 NA18957.hp2 NA19000.hp1 NA19058.hp2 NA19063.hp2 NA19065.hp1 NA19066.hp2 NA19081.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0000 a0003c0005t0001g0000	10	437	0.0229	-30	c.285 others(37): Show c.285_314delCTGTGGCCAAACCAGCTGTGGGTCCAGCTG	p.Cys others(12): Show p.Cys96_Cys105del	KRTAP9-2	ENSG00000239886.5	transcript	ENST00000377721.3	protein_coding	1/1	292/1005	285/525	95/174		INFO_REALIGN_3_PRIME	chr17	TogoVar
KSR2_chr12_117448012_117973990	117692449	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01168.hp1 HG01192.hp2 others(30): Show HG01071.hp1 HG01168.hp1 HG01192.hp2 HG01258.hp2 HG01346.hp1 HG01496.hp2 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp1 HG02258.hp2 HG02486.hp1 HG02572.hp2 HG02818.hp2 HG02897.hp1 HG03041.hp2 HG03225.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03516.hp1 HG03540.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA19000.hp1 NA19043.hp2 NA19066.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0009 a0001c0013	a0001c0001t0001 a0001c0001t0003 a0001c0001t0017 others(29): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0017 a0001c0001t0020 a0001c0001t0024 a0001c0001t0027 a0001c0001t0104 a0001c0001t0111 a0001c0001t0112 a0001c0001t0127 a0001c0001t0129 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0009 a0001c0002t0015 a0001c0002t0039 a0001c0002t0051 a0001c0002t0074 a0001c0002t0145 a0001c0002t0147 a0001c0003t0021 a0001c0003t0060 a0001c0003t0109 a0001c0003t0118 a0001c0004t0006 a0001c0004t0117 a0001c0005t0050 a0001c0006t0016 a0001c0009t0057 a0001c0009t0136 a0001c0013t0059	a0001c0001t0001g0079 a0001c0001t0003g0016 a0001c0001t0017g0155 others(30): Show a0001c0001t0001g0079 a0001c0001t0003g0016 a0001c0001t0017g0155 a0001c0001t0020g0149 a0001c0001t0024g0178 a0001c0001t0027g0001 a0001c0001t0104g0176 a0001c0001t0111g0148 a0001c0001t0112g0108 a0001c0001t0127g0120 a0001c0001t0129g0100 a0001c0002t0001g0112 a0001c0002t0002g0086 a0001c0002t0002g0158 a0001c0002t0003g0010 a0001c0002t0009g0191 a0001c0002t0015g0076 a0001c0002t0039g0023 a0001c0002t0051g0034 a0001c0002t0074g0063 a0001c0002t0145g0193 a0001c0002t0147g0188 a0001c0003t0021g0115 a0001c0003t0060g0045 a0001c0003t0109g0133 a0001c0003t0118g0172 a0001c0004t0006g0090 a0001c0004t0117g0092 a0001c0005t0050g0031 a0001c0006t0016g0081 a0001c0009t0057g0042 a0001c0009t0136g0097 a0001c0013t0059g0043	33	196	0.1684	-30	c.987 others(49): Show c.987-24821_987-24792delATATATATATATATATATATATATAT ATAT		KSR2	ENSG00000171435.15	transcript	ENST00000339824.7	protein_coding	4/19						chr12	TogoVar
KSR2_chr12_117448012_117973990	117947187	AAAAGAAA others(23): Show AAAAGAAAGAAAAGAAAGAAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0059 a0001c0013t0059	a0001c0013t0059g0043 a0001c0013t0059g0043	1	196	0.0051	-30	c.180 others(49): Show c.180+20859_180+20888delCTTTCTTTCTTTTCTTTCTTTTCTTT CTTT		KSR2	ENSG00000171435.15	transcript	ENST00000339824.7	protein_coding	1/19						chr12	TogoVar

Search by Variant

Search

Search Results (Total: 5732 hits)