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	chr	external
KIR3DL1_chr19_54811468_54835778	54830138	C C	T T	stop_gained stop_gained	HIGH	HG00099.hp2 HG00280.hp1 HG00544.hp1 others(59): Show HG00099.hp2 HG00280.hp1 HG00544.hp1 HG00597.hp1 HG00642.hp2 HG00673.hp2 HG00738.hp2 HG01074.hp1 HG01167.hp1 HG01168.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01346.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG02027.hp2 HG02083.hp1 HG02132.hp1 HG02602.hp1 HG02615.hp1 HG02630.hp1 HG02698.hp1 HG02886.hp1 HG02965.hp1 HG03834.hp2 HG04115.hp1 NA18612.hp2 NA18939.hp2 NA18943.hp2 NA18948.hp2 NA18949.hp1 NA18952.hp1 NA18954.hp1 NA18956.hp2 NA18973.hp1 NA18975.hp2 NA18979.hp2 NA18980.hp1 NA18984.hp2 NA18986.hp1 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19001.hp1 NA19003.hp1 NA19003.hp2 NA19012.hp1 NA19030.hp2 NA19057.hp2 NA19058.hp1 NA19060.hp2 NA19062.hp1 NA19079.hp2 NA19080.hp2 NA19085.hp1 NA19087.hp1 NA19091.hp1 NA20129.hp2 NA20300.hp2	a0002 a0026 a0002 a0026	a0002c0002 a0002c0038 a0026c0037 a0002c0002 a0002c0038 a0026c0037	a0002c0002t0002 a0002c0002t0012 a0002c0002t0013 others(2): Show a0002c0002t0002 a0002c0002t0012 a0002c0002t0013 a0002c0038t0002 a0026c0037t0002	a0002c0002t0002g0002 a0002c0002t0002g0020 a0002c0002t0002g0028 others(24): Show a0002c0002t0002g0002 a0002c0002t0002g0020 a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0121 a0002c0002t0002g0124 a0002c0002t0002g0126 a0002c0002t0002g0127 a0002c0002t0002g0128 a0002c0002t0002g0129 a0002c0002t0002g0130 a0002c0002t0002g0131 a0002c0002t0002g0132 a0002c0002t0002g0133 a0002c0002t0002g0134 a0002c0002t0002g0135 a0002c0002t0002g0136 a0002c0002t0002g0137 a0002c0002t0002g0138 a0002c0002t0002g0140 a0002c0002t0012g0002 a0002c0002t0013g0002 a0002c0038t0002g0123 a0026c0037t0002g0125	62	395	0.1570	0	c.119 others(4): Show c.1198C>T	p.Gln others(4): Show p.Gln400*	KIR3DL1	ENSG00000167633.18	transcript	ENST00000391728.8	protein_coding	9/9	1231/1871	1198/1335	400/444	chr19	TogoVar
KIRREL2_chr19_35851911_35872136	35866330	C C	G G	stop_gained stop_gained	HIGH	HG01074.hp1 HG01074.hp1	a0015 a0015	a0015c0022 a0015c0022	a0015c0022t0001 a0015c0022t0001	a0015c0022t0001g0001 a0015c0022t0001g0001	1	340	0.0029	0	c.196 others(4): Show c.1965C>G	p.Tyr others(4): Show p.Tyr655*	KIRREL2	ENSG00000126259.20	transcript	ENST00000360202.10	protein_coding	15/15	2174/2980	1965/2127	655/708	chr19	TogoVar
KLB_chr4_39401930_39456533	39446745	C C	A A	stop_gained stop_gained	HIGH	NA18993.hp1 NA18993.hp1	a0011 a0011	a0011c0019 a0011c0019	a0011c0019t0002 a0011c0019t0002	a0011c0019t0002g0291 a0011c0019t0002g0291	1	380	0.0026	0	c.201 others(4): Show c.2019C>A	p.Tyr others(4): Show p.Tyr673*	KLB	ENSG00000134962.7	transcript	ENST00000257408.5	protein_coding	4/5	2039/6002	2019/3135	673/1044	chr4	TogoVar
KLF15_chr3_126337635_126362408	126352608	C C	T T	stop_gained stop_gained	HIGH	HG01256.hp1 HG01256.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0042 a0002c0002t0042	a0002c0002t0042g0223 a0002c0002t0042g0223	1	382	0.0026	0	c.315 others(3): Show c.315G>A	p.Trp others(4): Show p.Trp105*	KLF15	ENSG00000163884.4	transcript	ENST00000296233.4	protein_coding	2/3	512/2540	315/1251	105/416	chr3	TogoVar
KLF16_chr19_1847399_1868579	1863230	C C	A A	stop_gained stop_gained	HIGH	NA18962.hp1 NA18962.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0028 a0005c0010t0028	a0005c0010t0028g0061 a0005c0010t0028g0061	1	398	0.0025	0	c.268 others(3): Show c.268G>T	p.Gly others(3): Show p.Gly90*	KLF16	ENSG00000129911.9	transcript	ENST00000250916.6	protein_coding	1/2	350/2901	268/759	90/252	chr19	TogoVar
KLF4_chr9_107479852_107494769	107487806	C C	CGAGGGGC others(28): Show CGAGGGGCTCACGTCGTTGATGTCCGCCAGGTTGAA	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA19075.hp1 NA19075.hp1	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0001 a0006c0014t0001	a0006c0014t0001g0032 a0006c0014t0001g0032	1	428	0.0023	35	c.553 others(42): Show c.553_587dupTTCAACCTGGCGGACATCAACGACGTGAGCCCCTC	p.Gly others(5): Show p.Gly197fs	KLF4	ENSG00000136826.15	transcript	ENST00000374672.5	protein_coding	3/5	1184/2936	587/1440	196/479	chr9	TogoVar
KLHDC4_chr16_87702812_87770986	87761986	G G	A A	stop_gained stop_gained	HIGH	HG02132.hp2 HG02132.hp2	a0012 a0012	a0012c0032 a0012c0032	a0012c0032t0001 a0012c0032t0001	a0012c0032t0001g0213 a0012c0032t0001g0213	1	380	0.0026	0	c.154 others(3): Show c.154C>T	p.Gln others(3): Show p.Gln52*	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	2/12	250/1924	154/1563	52/520	chr16	TogoVar
KLHDC7A_chr1_18475930_18490974	18481735	C C	T T	stop_gained stop_gained	HIGH	HG02280.hp2 HG02486.hp1 HG02717.hp1 others(2): Show HG02280.hp2 HG02486.hp1 HG02717.hp1 HG03209.hp1 HG06807.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0009 a0005c0009t0009	a0005c0009t0009g0000 a0005c0009t0009g0000	5	438	0.0114	0	c.754 others(3): Show c.754C>T	p.Gln others(4): Show p.Gln252*	KLHDC7A	ENSG00000179023.9	transcript	ENST00000400664.3	protein_coding	1/1	806/5045	754/2334	252/777	chr1	TogoVar
KLHL33_chr14_20420852_20441166	20429617	G G	A A	stop_gained stop_gained	HIGH	HG03239.hp1 HG03239.hp1	a0026 a0026	a0026c0033 a0026c0033	a0026c0033t0004 a0026c0033t0004	a0026c0033t0004g0071 a0026c0033t0004g0071	1	480	0.0021	0	c.172 others(4): Show c.1726C>T	p.Arg others(4): Show p.Arg576*	KLHL33	ENSG00000185271.9	transcript	ENST00000636854.3	protein_coding	4/5	1813/5478	1726/2394	576/797	chr14	TogoVar
KLHL35_chr11_75417394_75438203	75430623	G G	A A	stop_gained stop_gained	HIGH	HG01168.hp2 HG01169.hp2 HG01168.hp2 HG01169.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0030 a0003c0006t0002g0030	2	420	0.0048	0	c.7C> others(1): Show c.7C>T	p.Gln others(2): Show p.Gln3*	KLHL35	ENSG00000149243.17	transcript	ENST00000539798.3	protein_coding	2/7	169/2100	7/1752	3/583	chr11	TogoVar
KLHL38_chr8_123639442_123658801	123645840	C C	A A	stop_gained stop_gained	HIGH	HG00609.hp2 HG00609.hp2	a0020 a0020	a0020c0031 a0020c0031	a0020c0031t0001 a0020c0031t0001	a0020c0031t0001g0099 a0020c0031t0001g0099	1	446	0.0022	0	c.164 others(4): Show c.1645G>T	p.Glu others(4): Show p.Glu549*	KLHL38	ENSG00000175946.9	transcript	ENST00000684634.1	protein_coding	4/4	1862/3260	1645/1746	549/581	chr8	TogoVar
KLK10_chr19_51007739_51024709	51014828	C C	T T	stop_gained stop_gained	HIGH	NA18973.hp1 NA18973.hp1	a0007 a0007	a0007c0014 a0007c0014	a0007c0014t0002 a0007c0014t0002	a0007c0014t0002g0077 a0007c0014t0002g0077	1	450	0.0022	0	c.803 others(3): Show c.803G>A	p.Trp others(4): Show p.Trp268*	KLK10	ENSG00000129451.12	transcript	ENST00000358789.8	protein_coding	6/6	895/2984	803/831	268/276	chr19	TogoVar
KLRG2_chr7_139447690_139488673	139454163	G G	A A	stop_gained stop_gained	HIGH	NA18950.hp2 NA18950.hp2	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0001 a0010c0014t0001	a0010c0014t0001g0099 a0010c0014t0001g0099	1	402	0.0025	0	c.105 others(4): Show c.1057C>T	p.Arg others(4): Show p.Arg353*	KLRG2	ENSG00000188883.5	transcript	ENST00000340940.5	protein_coding	4/5	1088/2158	1057/1230	353/409	chr7	TogoVar
KMT2D_chr12_49013978_49065794	49042142	G G	T T	stop_gained stop_gained	HIGH	NA18967.hp1 NA18967.hp1	a0016 a0016	a0016c0057 a0016c0057	a0016c0057t0002 a0016c0057t0002	a0016c0057t0002g0153 a0016c0057t0002g0153	1	302	0.0033	0	c.605 others(4): Show c.6056C>A	p.Ser others(5): Show p.Ser2019*	KMT2D	ENSG00000167548.18	transcript	ENST00000301067.12	protein_coding	29/55	7275/20635	6056/16614	2019/5537	chr12	TogoVar
KNG1_chr3_186712359_186749410	186741953	G G	A A	stop_gained stop_gained	HIGH	HG02735.hp2 HG02735.hp2	a0015 a0015	a0015c0025 a0015c0025	a0015c0025t0001 a0015c0025t0001	a0015c0025t0001g0218 a0015c0025t0001g0218	1	430	0.0023	0	c.155 others(4): Show c.1557G>A	p.Trp others(4): Show p.Trp519*	KNG1	ENSG00000113889.14	transcript	ENST00000644859.2	protein_coding	10/10	1741/4198	1557/1935	519/644	chr3	TogoVar
KRBA2_chr17_8353822_8381704	8370066	G G	A A	stop_gained stop_gained	HIGH	HG02129.hp1 HG02129.hp1	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0112 a0005c0012t0112	a0005c0012t0112g0158 a0005c0012t0112g0158	1	388	0.0026	0	c.301 others(3): Show c.301C>T	p.Arg others(4): Show p.Arg101*	KRBA2	ENSG00000184619.8	transcript	ENST00000396267.3	protein_coding	2/2	1126/12370	301/1233	101/410	chr17	TogoVar
KRT16_chr17_41604778_41617767	41612635	G G	T T	stop_gained stop_gained	HIGH	HG03516.hp2 HG03516.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0015 a0006c0009t0001g0015	1	398	0.0025	0	c.54C others(2): Show c.54C>A	p.Cys others(3): Show p.Cys18*	KRT16	ENSG00000186832.9	transcript	ENST00000301653.9	protein_coding	1/8	133/1658	54/1422	18/473	chr17	TogoVar
KRT1_chr12_52669736_52685407	52678658	G G	T T	stop_gained stop_gained	HIGH	NA18941.hp1 NA18941.hp1	a0010 a0010	a0010c0023 a0010c0023	a0010c0023t0001 a0010c0023t0001	a0010c0023t0001g0041 a0010c0023t0001g0041	1	398	0.0025	0	c.690 others(3): Show c.690C>A	p.Tyr others(4): Show p.Tyr230*	KRT1	ENSG00000167768.4	transcript	ENST00000252244.3	protein_coding	2/9	749/2451	690/1935	230/644	chr12	TogoVar
KRT1_chr12_52669736_52685407	52678681	T T	A A	stop_gained stop_gained	HIGH	NA18941.hp1 NA18941.hp1	a0010 a0010	a0010c0023 a0010c0023	a0010c0023t0001 a0010c0023t0001	a0010c0023t0001g0041 a0010c0023t0001g0041	1	398	0.0025	0	c.667 others(3): Show c.667A>T	p.Arg others(4): Show p.Arg223*	KRT1	ENSG00000167768.4	transcript	ENST00000252244.3	protein_coding	2/9	726/2451	667/1935	223/644	chr12	TogoVar
KRT24_chr17_40692991_40708752	40698541	G G	A A	stop_gained stop_gained	HIGH	HG01109.hp2 HG01109.hp2	a0012 a0012	a0012c0016 a0012c0016	a0012c0016t0001 a0012c0016t0001	a0012c0016t0001g0149 a0012c0016t0001g0149	1	424	0.0024	0	c.147 others(4): Show c.1471C>T	p.Arg others(4): Show p.Arg491*	KRT24	ENSG00000167916.5	transcript	ENST00000264651.3	protein_coding	7/8	1530/1883	1471/1578	491/525	chr17	TogoVar
KRT25_chr17_40743021_40760331	40755262	G G	A A	stop_gained stop_gained	HIGH	NA19043.hp1 NA19043.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0199 a0006c0012t0001g0199	1	426	0.0024	0	c.10C others(2): Show c.10C>T	p.Arg others(2): Show p.Arg4*	KRT25	ENSG00000204897.7	transcript	ENST00000312150.5	protein_coding	1/8	70/1669	10/1353	4/450	chr17	TogoVar
KRT26_chr17_40761238_40777201	40772004	G G	T T	stop_gained stop_gained	HIGH	HG02965.hp1 HG02965.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0031 a0007c0009t0001g0031	1	414	0.0024	0	c.110 others(3): Show c.110C>A	p.Ser others(3): Show p.Ser37*	KRT26	ENSG00000186393.6	transcript	ENST00000335552.5	protein_coding	1/8	198/1772	110/1407	37/468	chr17	TogoVar
KRT32_chr17_41454513_41472386	41460135	G G	T T	stop_gained stop_gained	HIGH	HG01069.hp1 HG01069.hp1	a0030 a0030	a0030c0044 a0030c0044	a0030c0044t0001 a0030c0044t0001	a0030c0044t0001g0112 a0030c0044t0001g0112	1	460	0.0022	0	c.132 others(4): Show c.1322C>A	p.Ser others(4): Show p.Ser441*	KRT32	ENSG00000108759.4	transcript	ENST00000225899.4	protein_coding	7/7	1383/2005	1322/1347	441/448	chr17	TogoVar
KRT33B_chr17_41358498_41374813	41369474	G G	A A	stop_gained stop_gained	HIGH	HG01175.hp1 HG01175.hp1	a0007 a0007	a0007c0020 a0007c0020	a0007c0020t0001 a0007c0020t0001	a0007c0020t0001g0058 a0007c0020t0001g0058	1	425	0.0024	0	c.277 others(3): Show c.277C>T	p.Gln others(3): Show p.Gln93*	KRT33B	ENSG00000131738.11	transcript	ENST00000251646.8	protein_coding	1/7	340/1616	277/1215	93/404	chr17	TogoVar
KRT34_chr17_41372669_41387306	41379583	C C	T T	stop_gained stop_gained	HIGH	HG02886.hp2 HG02886.hp2	a0011 a0011	a0011c0024 a0011c0024	a0011c0024t0001 a0011c0024t0001	a0011c0024t0001g0049 a0011c0024t0001g0049	1	451	0.0022	0	c.737 others(3): Show c.737G>A	p.Trp others(4): Show p.Trp246*	KRT34	ENSG00000131737.7	transcript	ENST00000394001.3	protein_coding	4/7	797/1635	737/1185	246/394	chr17	TogoVar
KRT34_chr17_41372669_41387306	41382130	G G	GGCGGGGA others(7298): Show GGCGGGGATGTTGCAGGCCCCAGGCAGGGTGTAGCCGTGGCAGCTGGGGG GCACGCAGGGCCGGGAGGAGCAGCTGGTGCGGCAGCCCAGGCTGGGCAGG CAACAACTGTAAGACATGGTGCTGGAACAGGTAATGGAAAAGCAGGTAAG CTGCTGGAGGTGGATGTGGGCAGGTTTGAGTCTCTCCTTCCTCTGCAGTC CTTTTATACCATTAATTGTGGGTGGGGGCTTGGCATACAGCATAGTTTCC TTTCCTAATGCTTCAGCTAATTTTTCTCCAAAATATGCTAGTTAGATGCT TCTAAAGAGTCCCCCCTCAACCCATAAAATTATTCCATTCAGCTTATGTC ACACCAGGCTCTTCCTGGGTGCTAGTGGTTGGTGAAATCAGAGTTTCATC AGATGGCTTCATAGGAGATAGAATCATCACAGCCCCAAAAGGCTGTCTGC ATTACTCAGAGGGGAGGACAGCCAGGGACATGGGGTGGAGTTGTTTGGGA ATCAGGGATTCCTCACCCAGGAGTTTCCGCCACTGTTCTTTCTCCCCAGA GAGAGAGCTCTGAGAGAGAGCTTTGAGAGTTACTCTTCCAAGTAGCTCTT TCCTCCCACATTCATCCATGTTTCAGCATTCAATTTGTTTTTATAGCAGA AACTCAACCTGTATTCGCCGAAATGATCCTGAGCCTTACTATTCGTTGGG GTTTAGGGAACTTGCCAACACATGGAGCAACTGAAAACAATGGCATGTTC ATGGTTGAGAAATGAGAAAGTAAAATGGAAACCAATGGAATGGATGGGAG TATACCTAAAAGAGGGCATCTGCAAATGGCAGCCCACACGTCAAGTTTAC CCTGCTGAATTTTTGTAAATAAAGTTTTTGTTTGTTTGTTTTCTGTTTTT TTTTTTTTGAGACAGAGTCTCACTCTATCATCCAGGCTGGAGTGCAGTGG CACGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCTATTCCC CTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGTGTGCCACCATGCC TGGCTAATTTTTTTTTTTTTTTTGTATTTTCAGTACAGATGGGGTTTCAC CGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCACCTGCCT CAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCTGGCCA AAACTTTCCCTCTTCTATGGCCTAAACACACTCACCTGACCAGACATTTC CCAGCAAACTTTATTTCAGAATTATGCTAATATCATACAGTAATCATTGA TTGAATATAAAGTTTTAATAACCTTCTCATGAATTTTCATTAGTGTTACT CTTCCTTATTTATTCCACTTACAGTATTCCATGGTTTACATCGTCTTTAA TTAGGTGATGATATTGCCTCTGCTGAAGGGCCTGCAGTCAACAAGACAGG CAGACAAAATTTATATCAACAGAACATTTGGGTTTTCAAGGCTTTGATTG AGTGCTCCCTCCTTCTTGGAGCCTCTTCTTTTCATTCTCTCACACATCTG AAATTCGTAATTCTTTATCTGCACCTTTCTTGAGCCACACTGATATTTGT CTATGATGACTGTAGCTTTGTCTCATCCACTCTAAACTGTAAAACATGCT GTGGGCCGAGACTGGGATTCACTTATTTGTGTTTCTCAGTACCGCCCACA GTACCCAGCACACACTATAGATGATTGATTGCAGTTGTGTCAATCAGATA GGATTAAATAAAATGGATAATTGAGACTGGCCTATAAAATTGAAAGCTTT AAAAATTCAGGGATGAGGCAAGTGGGGTGGGGTGTGGGGTAAGATTAATG TTTTGGGGGAGATGTTTAATGAACATTGGCCTTTCTTGGAATTATAGAAA ATGAAATGATAAAGAGGCTATGGAAGAACATTATGGATAAGACCAAAGAT CTAGGGGAAAGAATAAACTTGAAGAGGGGAAAGGTAAGGACTGCATTTAA AGGGTCTATCTGGAGGACAACATGTCAGGCATAACAAGTGGGCGGCAAGA TGAACCAGTTTGGGAAAAATACGTTTTAGTCCAATTAAACATGATGTAAT GACCTGATACCAAGTGAAGCTGTCATATGCGCAACAGAAAACCTGGAAAC TGAGCTGAGATGAGAGGGAGATGTGGCAGTCATCAGCATAGAGGAGCTAG ATCTACACGAACAGGGACGTAGAAAGAGAAAGACAGAGGGCTAAGAATAT AGGTGTTTCCTTCATTTGGGACAAAAAGGGGAAGACAGCTAACAAGACAA CAGAGAACAGGTAATTAGAGATATTACAAGAAGACCCAGAGTGTGCAGGG TTATGGAAATCAATGAAGGTGTATTTTAAGGGAGGAGTAGGTATCTATAT CAGCAAGGCAGCAGCAGCAGAGAGGTTGAGAGGAGAGAATCACTGCTCTT TGAACAGTTTCTGTAGAAGCAGTTTCTGTAGTTTCTTCAGGCAGTTTAGG AGAAAGGGAAGCAGAACATTCTATTCTGATGAGGGTGAGAGCTGGAGATA GCAGTGAAGTCTGGGGAGGCTTTGCAAAATTGCCAAGGGCCCTGTAGTCA AGGCAAGGTAAGCATGGGTATTGAAGGCCAGGTTTCCTGCATGGCCTACC CTGGGTGGGAGTCTCCCAGAAGGACGTCCTTCCCTGTCTACATCAGTGTT TCTGGTGAAGCATAAAGGCTTGGCTCAGTCATTTACTTCATTTTATTCTC CTAATGAAGGGGTATTTTTATGAAACAGCCATGATGAGTAATTTACAATG CATGAATATGAATGAGAAACATTTATTATGCCAGAGAAATGAAGTTTATT GGGAAGTAAATGAAGTCTCCTCCTTGCATTCCAGAGAATGCCAAAGAAAA AAGGAAAACAGGAAATGCAGTAGTACGTTCAGGAAACACCCTAAGTAGTA ACTGGAGCTCAGATTACAGGGAGCTGAACATCTTTAGAAACAAACAGGCT CGACCCTCAACAGGAAGGAGTTGTCCAGACATTGGAAGTTGATGATGTGT GTCTTTGCTTGGGTCAGGAAAGCTTTTCAGCATTCTAGAAATAACATAGA GGCAAGATGAGGTTTCTTGATGTCAGCTGAGCTCCAGAAAAGTCAGGACT TGAGGATCCTTCCTGTGGTTGATCTAAATGGCTTTGTAGATGTCTTCAAA GAGGATACAAGCTTTTCAATTACAGCAACCCTTTTGAGAGGTGCCACAGG GTCCACAGGAGTTGCCACTAGCATTGGTGGTGGCGCATGGGTTGCAGGGG AGCCTAGGAGGACAAGGAGGTTTAGAATGGCTTTAGGAGGAGGTTTTAAT GCACACAATACCTTGGGCTTAATGACACAACCTATGAATTCTCAGTGGCT GGAGTTAGTTGGAATCAAGTTCTTTTTGTTTTGTTTTGTTTTGTTTTTGA GACAGGGTCTTGCTCTGTTGCCTAGGCTGGAGTGCAGTGGTGCGATCTTG GCTCACTGCAAGTGGGAGCCAAGGCTCACTATGCCTCCCAGGTTCAAGCG ATTCTCCTGCCTCAGCCTCCCAAGTAGTTAGGATCACAGGCATGCGTCAC CATGCCTGGCTAATTTTTTGTATTTTTGGTAGCGATGGGGTTTCACCATG TTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTTATCCACCCACCTCA ACCTCCCAAAGTGGATTATAGGCATGAGCCATTGCACCCAGCCAGAATCA AGTTCTGATTACTACCAAACCCTTCTCTCTCTCCCAGAATGCCATGTGCA GAGGTGGAAAAATTGTGCTTTTCAAAAATATTATCTCATACTCTTGAGGT CTCCTGGAACTTAATGTGCCTTACACAAATGTTATTCCTACAACTGGCCA GCTCCTGCCACCACTCCTCCATTGTTAGCCCCCTGAGATAGGGGCTGTTC CCTTACCTTTGGCCTCCCTTTGCTTAGCTATCACAGATCACTGGACACAT GCTACACAGTTAATGTGTGTTGCCTGACTAGTTGAAAACATGGCCACCAT TTGTGTGCCTACAATATCCCACTGTACACATTCTTCCCAGACATTATTTG CCCCATACTCACTTGCAGTCCTCACTCTCCAGGAGGCTCCGGTACGTGTT GATCTCACACTCCAGCCGGGCACGCACGTCCAGCAGCACCTGGTACTCCT GGTTCTGCCGCTCCAGGTCACAGCGGATCTCTGCCAGCTGAGACTCCACG TTGGTGATCAGGCTCTGCACCTGGGACAGCTGGGAGCTGTAGCGGGCCTC GCTCTCCGTCAGCGTGTTTTCCAGAGAGTCTCGCTGTGGTGGGGAAGATC AGGAATGTCAGAGAGCTGCTCCTTCAAAGGGTTTCTTCACAGGATTACAA GGAAGTCACAAGCTCCAAGAGCTAAGGAGAGTGTGTGGCCCCAAGCACAT CCCCGGGACTCTGCCTCCCAAGTTCCCATCGCTCACCAGCAGGTCTGAAC AATACACACCAGGTTGTGCTGGGCCTGCAGCTCGATCTCCAGGGCGTTGA CTGTGCGTCTCAGCTCGATGATCTCCGCCTGGCAGGACTGCAGCTGCTCT GAGCTGGATACCACCTGCTTGTTCAGCTCCTCGGTCTGAAACACCCAAGT GGGGAAAGGATCAGACCCTGTCTCCAGGGCCCTGGGGCACCTCGGGTCCT GAGTGGCCATGTGCTTAGATGCCCACCTGCGTGGCGAACCATTGCTCCAC TTCCCTGCGGTTAGTTTCCACCAGAGCCTCATACTGACTCCTGGTCTCGT TCAGGACCTGGTTCAGGTCCACAGTGGGGGCAGTGTCCACCTCCACGTTG AGGCGGTCTCCAAGCTGGGAGCGCAGGGTGTTAACCTCCTGTTGGAGAAA AGGGAAACAATGAACCTACGGCAATGGATCTGCCATTTTCCTGCTCCAGG GAAATGAGCACAATACTGCCCAAAAAGCACTAAAAGGAATATTCTGATCA TTCCCAAAGAGTGACACACACATTTTATAGCAATAAACTCCAACAGGGAT CACATCAATTGCTGTCCCATGGAAGATGTGCCATCTTCCTGCTCTGGGAA AATGAGCTTGATGCTGCCCAGAAAGCACTAAAAGGGGCCGGGCACAGTGG CTCAAGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGCAGGTGGATCACG AAGTCAGGAGATCGAAACCATCCTAGCCAACATGGTGAAACCCCATCTCT ACTAACAATACAAAAATTAGCTGGGCGTGGTGGCATGTGCCTGTAATCCC AGCTACTCAGGAGGCTGAGGCAAGTGAATCACTTGAACCAGGGAGTCGGA TGTTACAGTGAGCCTAGATCACGCCACTGCACTCCAGCCTGGTGACAGAG CATGACTCCGTCAAAAAAAAAAAAGCACTAAAAGGAAGATTCTGATCATT CCCAAAGAGTGACACACACATTTTATAGCAATAAACTCCAACAGGGATCA CGTCAATTGTTGTCCCATAGAAACGGAAACAACCTCACACCTTCTACAAG ACTAAGTCTAAACTCCTTGGCATATGCAAGTCCTTCCTCGCTTCCCATCA CATCTTCACTTTCATCCCTTGGAGGTACTGCATGCCCAGCCATACCCAGA TACACCCTGCCCTGCCACTTCTGTGTCTTTGTTCAACCTCTTCCCTCAGA CTGAAACACCCAAGTACTGGAATCCTCCTCTTTGCATCTGAGAAGAGTTC CCTATCTCCTCTTGGGCAGCCTGGATTATTTCTAGAGCATACTGCTTGTA CATCTCATATGGTACTTGTTTCACTCTGTCTTGTTTATATCACTGTGTTT ATATGACTGTCTTTCTATACTAGACTGTGAGCTCTTTTAAGAAAAGGGCC ATGTCTTATTTCTTTTTTGTCCCTCCATCTCCACCACCAAATTCAGGACC TAGCAGTGATCAGCAGAGAGCAGGGCTCAATGAATGATGTCCCTCCTCAG TAATTCCAACACCTGCCTAACCCTCACCCAGCCGCTGAAGAATGAGCAGC TCACTCCACTCCTTGATATGGATGTAGCACCGTCACTCTCTGAGAACATC TTGAGTTCCTCAGAGAAGGGTCCCAGACCAGGGATCCAGACAGTAATCCT CTCCTGATTCCCAGTGCTAGTAGCTTAGTTCTGAGGCCTGCTTTTGTGAA TTTGTTTCATACCTCCTCATGGTTCTTCTTCAAGCAGATCAGCTCCTCCC TCAGGGACTCCACCTGGGACTCCAGGTCAGACTTGCAGAGGGTCAGCTCA TCCAGGATCCTGCGTATGCTGTTGATGTCCGACTCCACCAACAGCCTCAG GGACTGCTCCGTCTGGTACCTGCACGTGTCGGAGTGGGAGGATAAGTCAG GAAAGAAAACCACCTTCCCCTCTCATGTGTTGTTTGGGTAGAATTGGCCT GAATCTTCTTGAACTTACAGTTTTCTGCCTCTTCTCTTCCATATGCTTCA GTCAAGCTGTCCATGGATAGGCTGAAGAGGTTCCCTGACTCACCTAACAC CACGAGGAGCCCACAGGCACACATGAGATGAAGTCTCTCACTGTGTTCTC GGTTTTGTTAGCTAATATACCACCAAATCAATTCCCAAAGAACAATTCAT TTCAATCTCTGAATTTTGTGGTTTAAGAAACACTTCCAAAAAAAACCAGT ATAGACCAAAGAAAAAAATTAGATATAAATAAAAAATATAAAATATAAAA TAAAAAAATTATTTAAAAAAAAAAAAGAGAAAAAAAAAAAAAAGAACACT CACATTACCAAGGCACAGATTATAACAAGCCCTTCCATGAAATATTACAT AATACCTAGAAAAGCTATCAACATAATGCTTACAATTCATAATACCAGTA CCAATAGCAGCACCATCCATTCCTACAGATCCATTTGCACAACAAGCACT CTGAAAAGAAATTCTCTCAATGCAGGTACACCATAGACCCTTATCTCACA TACTCATTCAAAGAAGTCCAGCTGCTGCAGCCCCCATATGCTCCACCCCC TCACCTTCTGCTGGAGCTCCTCAATGGTCTTGAAGTACGACCTGGAAGCT GGGGCACAGTCAAAGGGCCTCCTGCTGCTGGGACCGCTCCTGGCCATCAC CTTCTCTCAGCTCCGGCTTGTCCCGCTCAAGACAGACGCACATCTCTCAC CGAGCTGGCCAGGCGGTCGTTCTCAACTGCATCGTTCTCCTTCACTTCGC CTGCCATCAGAACGGCAATCCATCAAGAACCAAGAAAGCCCTCAGAACCA ACATTT	stop_gained others(1): Show stop_gained disruptive_inframe_insertion	HIGH	HG01257.hp2 HG01257.hp2	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0001 a0009c0014t0001	a0009c0014t0001g0033 a0009c0014t0001g0033	1	451	0.0022	7305	c.116 others(7312): Show c.116_117insAAATGTTGGTTCTGAGGGCTTTCTTGGTTCTTGATGGA TTGCCGTTCTGATGGCAGGCGAAGTGAAGGAGAACGATGCAGTTGAGAAC GACCGCCTGGCCAGCTCGGTGAGAGATGTGCGTCTGTCTTGAGCGGGACA AGCCGGAGCTGAGAGAAGGTGATGGCCAGGAGCGGTCCCAGCAGCAGGAG GCCCTTTGACTGTGCCCCAGCTTCCAGGTCGTACTTCAAGACCATTGAGG AGCTCCAGCAGAAGGTGAGGGGGTGGAGCATATGGGGGCTGCAGCAGCTG GACTTCTTTGAATGAGTATGTGAGATAAGGGTCTATGGTGTACCTGCATT GAGAGAATTTCTTTTCAGAGTGCTTGTTGTGCAAATGGATCTGTAGGAAT GGATGGTGCTGCTATTGGTACTGGTATTATGAATTGTAAGCATTATGTTG ATAGCTTTTCTAGGTATTATGTAATATTTCATGGAAGGGCTTGTTATAAT CTGTGCCTTGGTAATGTGAGTGTTCTTTTTTTTTTTTTTCTCTTTTTTTT TTTTAAATAATTTTTTTATTTTATATTTTATATTTTTTATTTATATCTAA TTTTTTTCTTTGGTCTATACTGGTTTTTTTTGGAAGTGTTTCTTAAACCA CAAAATTCAGAGATTGAAATGAATTGTTCTTTGGGAATTGATTTGGTGGT ATATTAGCTAACAAAACCGAGAACACAGTGAGAGACTTCATCTCATGTGT GCCTGTGGGCTCCTCGTGGTGTTAGGTGAGTCAGGGAACCTCTTCAGCCT ATCCATGGACAGCTTGACTGAAGCATATGGAAGAGAAGAGGCAGAAAACT GTAAGTTCAAGAAGATTCAGGCCAATTCTACCCAAACAACACATGAGAGG GGAAGGTGGTTTTCTTTCCTGACTTATCCTCCCACTCCGACACGTGCAGG TACCAGACGGAGCAGTCCCTGAGGCTGTTGGTGGAGTCGGACATCAACAG CATACGCAGGATCCTGGATGAGCTGACCCTCTGCAAGTCTGACCTGGAGT CCCAGGTGGAGTCCCTGAGGGAGGAGCTGATCTGCTTGAAGAAGAACCAT GAGGAGGTATGAAACAAATTCACAAAAGCAGGCCTCAGAACTAAGCTACT AGCACTGGGAATCAGGAGAGGATTACTGTCTGGATCCCTGGTCTGGGACC CTTCTCTGAGGAACTCAAGATGTTCTCAGAGAGTGACGGTGCTACATCCA TATCAAGGAGTGGAGTGAGCTGCTCATTCTTCAGCGGCTGGGTGAGGGTT AGGCAGGTGTTGGAATTACTGAGGAGGGACATCATTCATTGAGCCCTGCT CTCTGCTGATCACTGCTAGGTCCTGAATTTGGTGGTGGAGATGGAGGGAC AAAAAAGAAATAAGACATGGCCCTTTTCTTAAAAGAGCTCACAGTCTAGT ATAGAAAGACAGTCATATAAACACAGTGATATAAACAAGACAGAGTGAAA CAAGTACCATATGAGATGTACAAGCAGTATGCTCTAGAAATAATCCAGGC TGCCCAAGAGGAGATAGGGAACTCTTCTCAGATGCAAAGAGGAGGATTCC AGTACTTGGGTGTTTCAGTCTGAGGGAAGAGGTTGAACAAAGACACAGAA GTGGCAGGGCAGGGTGTATCTGGGTATGGCTGGGCATGCAGTACCTCCAA GGGATGAAAGTGAAGATGTGATGGGAAGCGAGGAAGGACTTGCATATGCC AAGGAGTTTAGACTTAGTCTTGTAGAAGGTGTGAGGTTGTTTCCGTTTCT ATGGGACAACAATTGACGTGATCCCTGTTGGAGTTTATTGCTATAAAATG TGTGTGTCACTCTTTGGGAATGATCAGAATCTTCCTTTTAGTGCTTTTTT TTTTTTGACGGAGTCATGCTCTGTCACCAGGCTGGAGTGCAGTGGCGTGA TCTAGGCTCACTGTAACATCCGACTCCCTGGTTCAAGTGATTCACTTGCC TCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACCACGCCCAGCT AATTTTTGTATTGTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGATG GTTTCGATCTCCTGACTTCGTGATCCACCTGCCTCTGCCTCCCAAAGTGC TGGGATTACAGGCTTGAGCCACTGTGCCCGGCCCCTTTTAGTGCTTTCTG GGCAGCATCAAGCTCATTTTCCCAGAGCAGGAAGATGGCACATCTTCCAT GGGACAGCAATTGATGTGATCCCTGTTGGAGTTTATTGCTATAAAATGTG TGTGTCACTCTTTGGGAATGATCAGAATATTCCTTTTAGTGCTTTTTGGG CAGTATTGTGCTCATTTCCCTGGAGCAGGAAAATGGCAGATCCATTGCCG TAGGTTCATTGTTTCCCTTTTCTCCAACAGGAGGTTAACACCCTGCGCTC CCAGCTTGGAGACCGCCTCAACGTGGAGGTGGACACTGCCCCCACTGTGG ACCTGAACCAGGTCCTGAACGAGACCAGGAGTCAGTATGAGGCTCTGGTG GAAACTAACCGCAGGGAAGTGGAGCAATGGTTCGCCACGCAGGTGGGCAT CTAAGCACATGGCCACTCAGGACCCGAGGTGCCCCAGGGCCCTGGAGACA GGGTCTGATCCTTTCCCCACTTGGGTGTTTCAGACCGAGGAGCTGAACAA GCAGGTGGTATCCAGCTCAGAGCAGCTGCAGTCCTGCCAGGCGGAGATCA TCGAGCTGAGACGCACAGTCAACGCCCTGGAGATCGAGCTGCAGGCCCAG CACAACCTGGTGTGTATTGTTCAGACCTGCTGGTGAGCGATGGGAACTTG GGAGGCAGAGTCCCGGGGATGTGCTTGGGGCCACACACTCTCCTTAGCTC TTGGAGCTTGTGACTTCCTTGTAATCCTGTGAAGAAACCCTTTGAAGGAG CAGCTCTCTGACATTCCTGATCTTCCCCACCACAGCGAGACTCTCTGGAA AACACGCTGACGGAGAGCGAGGCCCGCTACAGCTCCCAGCTGTCCCAGGT GCAGAGCCTGATCACCAACGTGGAGTCTCAGCTGGCAGAGATCCGCTGTG ACCTGGAGCGGCAGAACCAGGAGTACCAGGTGCTGCTGGACGTGCGTGCC CGGCTGGAGTGTGAGATCAACACGTACCGGAGCCTCCTGGAGAGTGAGGA CTGCAAGTGAGTATGGGGCAAATAATGTCTGGGAAGAATGTGTACAGTGG GATATTGTAGGCACACAAATGGTGGCCATGTTTTCAACTAGTCAGGCAAC ACACATTAACTGTGTAGCATGTGTCCAGTGATCTGTGATAGCTAAGCAAA GGGAGGCCAAAGGTAAGGGAACAGCCCCTATCTCAGGGGGCTAACAATGG AGGAGTGGTGGCAGGAGCTGGCCAGTTGTAGGAATAACATTTGTGTAAGG CACATTAAGTTCCAGGAGACCTCAAGAGTATGAGATAATATTTTTGAAAA GCACAATTTTTCCACCTCTGCACATGGCATTCTGGGAGAGAGAGAAGGGT TTGGTAGTAATCAGAACTTGATTCTGGCTGGGTGCAATGGCTCATGCCTA TAATCCACTTTGGGAGGTTGAGGTGGGTGGATAACTTGAGGTCAGGAGTT CAAGACCAGCCTGGCCAACATGGTGAAACCCCATCGCTACCAAAAATACA AAAAATTAGCCAGGCATGGTGACGCATGCCTGTGATCCTAACTACTTGGG AGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCATAGTGAGCCTTGG CTCCCACTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTAGGCA ACAGAGCAAGACCCTGTCTCAAAAACAAAACAAAACAAAACAAAAAGAAC TTGATTCCAACTAACTCCAGCCACTGAGAATTCATAGGTTGTGTCATTAA GCCCAAGGTATTGTGTGCATTAAAACCTCCTCCTAAAGCCATTCTAAACC TCCTTGTCCTCCTAGGCTCCCCTGCAACCCATGCGCCACCACCAATGCTA GTGGCAACTCCTGTGGACCCTGTGGCACCTCTCAAAAGGGTTGCTGTAAT TGAAAAGCTTGTATCCTCTTTGAAGACATCTACAAAGCCATTTAGATCAA CCACAGGAAGGATCCTCAAGTCCTGACTTTTCTGGAGCTCAGCTGACATC AAGAAACCTCATCTTGCCTCTATGTTATTTCTAGAATGCTGAAAAGCTTT CCTGACCCAAGCAAAGACACACATCATCAACTTCCAATGTCTGGACAACT CCTTCCTGTTGAGGGTCGAGCCTGTTTGTTTCTAAAGATGTTCAGCTCCC TGTAATCTGAGCTCCAGTTACTACTTAGGGTGTTTCCTGAACGTACTACT GCATTTCCTGTTTTCCTTTTTTCTTTGGCATTCTCTGGAATGCAAGGAGG AGACTTCATTTACTTCCCAATAAACTTCATTTCTCTGGCATAATAAATGT TTCTCATTCATATTCATGCATTGTAAATTACTCATCATGGCTGTTTCATA AAAATACCCCTTCATTAGGAGAATAAAATGAAGTAAATGACTGAGCCAAG CCTTTATGCTTCACCAGAAACACTGATGTAGACAGGGAAGGACGTCCTTC TGGGAGACTCCCACCCAGGGTAGGCCATGCAGGAAACCTGGCCTTCAATA CCCATGCTTACCTTGCCTTGACTACAGGGCCCTTGGCAATTTTGCAAAGC CTCCCCAGACTTCACTGCTATCTCCAGCTCTCACCCTCATCAGAATAGAA TGTTCTGCTTCCCTTTCTCCTAAACTGCCTGAAGAAACTACAGAAACTGC TTCTACAGAAACTGTTCAAAGAGCAGTGATTCTCTCCTCTCAACCTCTCT GCTGCTGCTGCCTTGCTGATATAGATACCTACTCCTCCCTTAAAATACAC CTTCATTGATTTCCATAACCCTGCACACTCTGGGTCTTCTTGTAATATCT CTAATTACCTGTTCTCTGTTGTCTTGTTAGCTGTCTTCCCCTTTTTGTCC CAAATGAAGGAAACACCTATATTCTTAGCCCTCTGTCTTTCTCTTTCTAC GTCCCTGTTCGTGTAGATCTAGCTCCTCTATGCTGATGACTGCCACATCT CCCTCTCATCTCAGCTCAGTTTCCAGGTTTTCTGTTGCGCATATGACAGC TTCACTTGGTATCAGGTCATTACATCATGTTTAATTGGACTAAAACGTAT TTTTCCCAAACTGGTTCATCTTGCCGCCCACTTGTTATGCCTGACATGTT GTCCTCCAGATAGACCCTTTAAATGCAGTCCTTACCTTTCCCCTCTTCAA GTTTATTCTTTCCCCTAGATCTTTGGTCTTATCCATAATGTTCTTCCATA GCCTCTTTATCATTTCATTTTCTATAATTCCAAGAAAGGCCAATGTTCAT TAAACATCTCCCCCAAAACATTAATCTTACCCCACACCCCACCCCACTTG CCTCATCCCTGAATTTTTAAAGCTTTCAATTTTATAGGCCAGTCTCAATT ATCCATTTTATTTAATCCTATCTGATTGACACAACTGCAATCAATCATCT ATAGTGTGTGCTGGGTACTGTGGGCGGTACTGAGAAACACAAATAAGTGA ATCCCAGTCTCGGCCCACAGCATGTTTTACAGTTTAGAGTGGATGAGACA AAGCTACAGTCATCATAGACAAATATCAGTGTGGCTCAAGAAAGGTGCAG ATAAAGAATTACGAATTTCAGATGTGTGAGAGAATGAAAAGAAGAGGCTC CAAGAAGGAGGGAGCACTCAATCAAAGCCTTGAAAACCCAAATGTTCTGT TGATATAAATTTTGTCTGCCTGTCTTGTTGACTGCAGGCCCTTCAGCAGA GGCAATATCATCACCTAATTAAAGACGATGTAAACCATGGAATACTGTAA GTGGAATAAATAAGGAAGAGTAACACTAATGAAAATTCATGAGAAGGTTA TTAAAACTTTATATTCAATCAATGATTACTGTATGATATTAGCATAATTC TGAAATAAAGTTTGCTGGGAAATGTCTGGTCAGGTGAGTGTGTTTAGGCC ATAGAAGAGGGAAAGTTTTGGCCAGGTGCAGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCTGAGGCAGGTGGATCACGAGGTCAGGAGATTGAG ACCATCCTGGCTAACACGGTGAAACCCCATCTGTACTGAAAATACAAAAA AAAAAAAAAAATTAGCCAGGCATGGTGGCACACACCTGTAGTCCCAGCTA CTCAGGAGGCTGAGGCAGGGGAATAGCTTGAACCCAGGAGGCGGAGGTTG CAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGATGATAGAGTGAG ACTCTGTCTCAAAAAAAAAAAAACAGAAAACAAACAAACAAAAACTTTAT TTACAAAAATTCAGCAGGGTAAACTTGACGTGTGGGCTGCCATTTGCAGA TGCCCTCTTTTAGGTATACTCCCATCCATTCCATTGGTTTCCATTTTACT TTCTCATTTCTCAACCATGAACATGCCATTGTTTTCAGTTGCTCCATGTG TTGGCAAGTTCCCTAAACCCCAACGAATAGTAAGGCTCAGGATCATTTCG GCGAATACAGGTTGAGTTTCTGCTATAAAAACAAATTGAATGCTGAAACA TGGATGAATGTGGGAGGAAAGAGCTACTTGGAAGAGTAACTCTCAAAGCT CTCTCTCAGAGCTCTCTCTCTGGGGAGAAAGAACAGTGGCGGAAACTCCT GGGTGAGGAATCCCTGATTCCCAAACAACTCCACCCCATGTCCCTGGCTG TCCTCCCCTCTGAGTAATGCAGACAGCCTTTTGGGGCTGTGATGATTCTA TCTCCTATGAAGCCATCTGATGAAACTCTGATTTCACCAACCACTAGCAC CCAGGAAGAGCCTGGTGTGACATAAGCTGAATGGAATAATTTTATGGGTT GAGGGGGGACTCTTTAGAAGCATCTAACTAGCATATTTTGGAGAAAAATT AGCTGAAGCATTAGGAAAGGAAACTATGCTGTATGCCAAGCCCCCACCCA CAATTAATGGTATAAAAGGACTGCAGAGGAAGGAGAGACTCAAACCTGCC CACATCCACCTCCAGCAGCTTACCTGCTTTTCCATTACCTGTTCCAGCAC CATGTCTTACAGTTGTTGCCTGCCCAGCCTGGGCTGCCGCACCAGCTGCT CCTCCCGGCCCTGCGTGCCCCCCAGCTGCCACGGCTACACCCTGCCTGGG GCCTGCAACATCCCCGC	p.Ala others(7316): Show p.Ala39_Asn40insAsnValGlySerGluGlyPheLeuGlySerTerT rpIleAlaValLeuMetAlaGlyGluValLysGluAsnAspAlaValGlu AsnAspArgLeuAlaSerSerValArgAspValArgLeuSerTerAlaGl yGlnAlaGlyAlaGluArgArgTerTrpProGlyAlaValProAlaAlaG lyGlyProLeuThrValProGlnLeuProGlyArgThrSerArgProLeu ArgSerSerSerArgArgTerGlyGlyGlyAlaTyrGlyGlyCysSerSe rTrpThrSerLeuAsnGluTyrValArgTerGlySerMetValTyrLeuH isTerGluAsnPhePheSerGluCysLeuLeuCysLysTrpIleCysArg AsnGlyTrpCysCysTyrTrpTyrTrpTyrTyrGluLeuTerAlaLeuCy sTerTerLeuPheTerValLeuCysAsnIleSerTrpLysGlyLeuLeuT erSerValProTrpTerCysGluCysSerPhePhePhePheSerLeuPhe PhePheTerIleIlePheLeuPheTyrIleLeuTyrPheLeuPheIleSe rAsnPhePheLeuTrpSerIleLeuValPhePheGlySerValSerTerT hrThrLysPheArgAspTerAsnGluLeuPhePheGlyAsnTerPheGly GlyIleLeuAlaAsnLysThrGluAsnThrValArgAspPheIleSerCy sValProValGlySerSerTrpCysTerValSerGlnGlyThrSerSerA laTyrProTrpThrAlaTerLeuLysHisMetGluGluLysArgGlnLys ThrValSerSerArgArgPheArgProIleLeuProLysGlnHisMetAr gGlyGluGlyGlyPheLeuSerTerLeuIleLeuProLeuArgHisValG lnValProAspGlyAlaValProGluAlaValGlyGlyValGlyHisGln GlnHisThrGlnAspProGlyTerAlaAspProLeuGlnValTerProGl yValProGlyGlyValProGluGlyGlyAlaAspLeuLeuGluGluGluP roTerGlyGlyMetLysGlnIleHisLysSerArgProGlnAsnTerAla ThrSerThrGlyAsnGlnGluArgIleThrValTrpIleProGlyLeuGl yProPheSerGluGluLeuLysMetPheSerGluSerAspGlyAlaThrS erIleSerArgSerGlyValSerCysSerPhePheSerGlyTrpValArg ValArgGlnValLeuGluLeuLeuArgArgAspIleIleHisTerAlaLe uLeuSerAlaAspHisCysTerValLeuAsnLeuValValGluMetGluG lyGlnLysArgAsnLysThrTrpProPheSerTerLysSerSerGlnSer SerIleGluArgGlnSerTyrLysHisSerAspIleAsnLysThrGluTe rAsnLysTyrHisMetArgCysThrSerSerMetLeuTerLysTerSerA rgLeuProLysArgArgTerGlyThrLeuLeuArgCysLysGluGluAsp SerSerThrTrpValPheGlnSerGluGlyArgGlyTerThrLysThrGl nLysTrpGlnGlyArgValTyrLeuGlyMetAlaGlyHisAlaValProP roArgAspGluSerGluAspValMetGlySerGluGluGlyLeuAlaTyr AlaLysGluPheArgLeuSerLeuValGluGlyValArgLeuPheProPh eLeuTrpAspAsnAsnTerArgAspProCysTrpSerLeuLeuLeuTerA snValCysValThrLeuTrpGluTerSerGluSerSerPheTerCysPhe PhePhePheAspGlyValMetLeuCysHisGlnAlaGlyValGlnTrpAr gAspLeuGlySerLeuTerHisProThrProTrpPheLysTerPheThrC ysLeuSerLeuLeuSerSerTrpAspTyrArgHisMetProProArgPro AlaAsnPheCysIleValSerArgAspGlyValSerProCysTrpLeuGl yTrpPheArgSerProAspPheValIleHisLeuProLeuProProLysV alLeuGlyLeuGlnAlaTerAlaThrValProGlyProPheTerCysPhe LeuGlySerIleLysLeuIlePheProGluGlnGluAspGlyThrSerSe rMetGlyGlnGlnLeuMetTerSerLeuLeuGluPheIleAlaIleLysC ysValCysHisSerLeuGlyMetIleArgIlePheLeuLeuValLeuPhe GlyGlnTyrCysAlaHisPheProGlyAlaGlyLysTrpGlnIleHisCy sArgArgPheIleValSerLeuPheSerAsnArgArgLeuThrProCysA laProSerLeuGluThrAlaSerThrTrpArgTrpThrLeuProProLeu TrpThrTerThrArgSerTerThrArgProGlyValSerMetArgLeuTr pTrpLysLeuThrAlaGlyLysTrpSerAsnGlySerProArgArgTrpA laSerLysHisMetAlaThrGlnAspProArgCysProArgAlaLeuGlu ThrGlySerAspProPheProThrTrpValPheGlnThrGluGluLeuAs nLysGlnValValSerSerSerGluGlnLeuGlnSerCysGlnAlaGluI leIleGluLeuArgArgThrValAsnAlaLeuGluIleGluLeuGlnAla GlnHisAsnLeuValCysIleValGlnThrCysTrpTerAlaMetGlyTh rTrpGluAlaGluSerArgGlyCysAlaTrpGlyHisThrLeuSerLeuA laLeuGlyAlaCysAspPheLeuValIleLeuTerArgAsnProLeuLys GluGlnLeuSerAspIleProAspLeuProHisHisSerGluThrLeuTr pLysThrArgTerArgArgAlaArgProAlaThrAlaProSerCysProA rgCysArgAlaTerSerProThrTrpSerLeuSerTrpGlnArgSerAla ValThrTrpSerGlyArgThrArgSerThrArgCysCysTrpThrCysVa lProGlyTrpSerValArgSerThrArgThrGlyAlaSerTrpArgValA rgThrAlaSerGluTyrGlyAlaAsnAsnValTrpGluGluCysValGln TrpAspIleValGlyThrGlnMetValAlaMetPheSerThrSerGlnAl aThrHisIleAsnCysValAlaCysValGlnTerSerValIleAlaLysG lnArgGluAlaLysGlyLysGlyThrAlaProIleSerGlyGlyTerGln TrpArgSerGlyGlyArgSerTrpProValValGlyIleThrPheValTe rGlyThrLeuSerSerArgArgProGlnGluTyrGluIleIlePheLeuL ysSerThrIlePheProProLeuHisMetAlaPheTrpGluArgGluLys GlyLeuValValIleArgThrTerPheTrpLeuGlyAlaMetAlaHisAl aTyrAsnProLeuTrpGluValGluValGlyGlyTerLeuGluValArgS erSerArgProAlaTrpProThrTrpTerAsnProIleAlaThrLysAsn ThrLysAsnTerProGlyMetValThrHisAlaCysAspProAsnTyrLe uGlyGlyTerGlyArgArgIleAlaTerThrTrpGluAlaTerTerAlaL euAlaProThrCysSerGluProArgSerHisHisCysThrProAlaTer AlaThrGluGlnAspProValSerLysThrLysGlnAsnLysThrLysAr gThrTerPheGlnLeuThrProAlaThrGluAsnSerTerValValSerL euSerProArgTyrCysValHisTerAsnLeuLeuLeuLysProPheTer ThrSerLeuSerSerTerAlaProLeuGlnProMetArgHisHisGlnCy sTerTrpGlnLeuLeuTrpThrLeuTrpHisLeuSerLysGlyLeuLeuT erLeuLysSerLeuTyrProLeuTerArgHisLeuGlnSerHisLeuAsp GlnProGlnGluGlySerSerSerProAspPheSerGlyAlaGlnLeuTh rSerArgAsnLeuIleLeuProLeuCysTyrPheTerAsnAlaGluLysL euSerTerProLysGlnArgHisThrSerSerThrSerAsnValTrpThr ThrProSerCysTerGlySerSerLeuPheValSerLysAspValGlnLe uProValIleTerAlaProValThrThrTerGlyValSerTerThrTyrT yrCysIleSerCysPheProPhePhePheGlyIleLeuTrpAsnAlaArg ArgArgLeuHisLeuLeuProAsnLysLeuHisPheSerGlyIleIleAs nValSerHisSerTyrSerCysIleValAsnTyrSerSerTrpLeuPheH isLysAsnThrProSerLeuGlyGluTerAsnGluValAsnAspTerAla LysProLeuCysPheThrArgAsnThrAspValAspArgGluGlyArgPr oSerGlyArgLeuProProArgValGlyHisAlaGlyAsnLeuAlaPheA snThrHisAlaTyrLeuAlaLeuThrThrGlyProLeuAlaIleLeuGln SerLeuProArgLeuHisCysTyrLeuGlnLeuSerProSerSerGluTe rAsnValLeuLeuProPheLeuLeuAsnCysLeuLysLysLeuGlnLysL euLeuLeuGlnLysLeuPheLysGluGlnTerPheSerProLeuAsnLeu SerAlaAlaAlaAlaLeuLeuIleTerIleProThrProProLeuLysTy rThrPheIleAspPheHisAsnProAlaHisSerGlySerSerCysAsnI leSerAsnTyrLeuPheSerValValLeuLeuAlaValPheProPheLeu SerGlnMetLysGluThrProIlePheLeuAlaLeuCysLeuSerLeuSe rThrSerLeuPheValTerIleTerLeuLeuTyrAlaAspAspCysHisI leSerLeuSerSerGlnLeuSerPheGlnValPheCysCysAlaTyrAsp SerPheThrTrpTyrGlnValIleThrSerCysLeuIleGlyLeuLysAr gIlePheProLysLeuValHisLeuAlaAlaHisLeuLeuCysLeuThrC ysCysProProAspArgProPheLysCysSerProTyrLeuSerProLeu GlnValTyrSerPheProTerIlePheGlyLeuIleHisAsnValLeuPr oTerProLeuTyrHisPheIlePheTyrAsnSerLysLysGlyGlnCysS erLeuAsnIleSerProLysThrLeuIleLeuProHisThrProProHis LeuProHisProTerIlePheLysAlaPheAsnPheIleGlyGlnSerGl nLeuSerIleLeuPheAsnProIleTerLeuThrGlnLeuGlnSerIleI leTyrSerValCysTrpValLeuTrpAlaValLeuArgAsnThrAsnLys TerIleProValSerAlaHisSerMetPheTyrSerLeuGluTrpMetAr gGlnSerTyrSerHisHisArgGlnIleSerValTrpLeuLysLysGlyA laAspLysGluLeuArgIleSerAspValTerGluAsnGluLysLysArg LeuGlnGluGlyGlySerThrGlnSerLysProTerLysProLysCysSe rValAspIleAsnPheValCysLeuSerCysTerLeuGlnAlaLeuGlnG lnArgGlnTyrHisHisLeuIleLysAspAspValAsnHisGlyIleLeu TerValGluTerIleArgLysSerAsnThrAsnGluAsnSerTerGluGl yTyrTerAsnPheIlePheAsnGlnTerLeuLeuTyrAspIleSerIleI leLeuLysTerSerLeuLeuGlyAsnValTrpSerGlyGluCysValTer AlaIleGluGluGlyLysPheTrpProGlyAlaValAlaHisAlaCysAs nProSerThrLeuGlyGlyTerGlyArgTrpIleThrArgSerGlyAspT erAspHisProGlyTerHisGlyGluThrProSerValLeuLysIleGln LysLysLysLysAsnTerProGlyMetValAlaHisThrCysSerProSe rTyrSerGlyGlyTerGlyArgGlyIleAlaTerThrGlnGluAlaGluV alAlaValSerGlnAspArgAlaThrAlaLeuGlnProGlyTerTerSer GluThrLeuSerGlnLysLysLysAsnArgLysGlnThrAsnLysAsnPh eIleTyrLysAsnSerAlaGlyTerThrTerArgValGlyCysHisLeuG lnMetProSerPheArgTyrThrProIleHisSerIleGlyPheHisPhe ThrPheSerPheLeuAsnHisGluHisAlaIleValPheSerCysSerMe tCysTrpGlnValProTerThrProThrAsnSerLysAlaGlnAspHisP heGlyGluTyrArgLeuSerPheCysTyrLysAsnLysLeuAsnAlaGlu ThrTrpMetAsnValGlyGlyLysSerTyrLeuGluGluTerLeuSerLy sLeuSerLeuArgAlaLeuSerLeuGlyArgLysAsnSerGlyGlyAsnS erTrpValArgAsnProTerPheProAsnAsnSerThrProCysProTrp LeuSerSerProLeuSerAsnAlaAspSerLeuLeuGlyLeuTerTerPh eTyrLeuLeuTerSerHisLeuMetLysLeuTerPheHisGlnProLeuA laProArgLysSerLeuValTerHisLysLeuAsnGlyIleIleLeuTrp ValGluGlyGlyLeuPheArgSerIleTerLeuAlaTyrPheGlyGluLy sLeuAlaGluAlaLeuGlyLysGluThrMetLeuTyrAlaLysProProP roThrIleAsnGlyIleLysGlyLeuGlnArgLysGluArgLeuLysPro AlaHisIleHisLeuGlnGlnLeuThrCysPheSerIleThrCysSerSe rThrMetSerTyrSerCysCysLeuProSerLeuGlyCysArgThrSerC ysSerSerArgProCysValProProSerCysHisGlyTyrThrLeuPro GlyAlaCysAsnIleProAla	KRT34	ENSG00000131737.7	transcript	ENST00000394001.3	protein_coding	1/7	176/1635	116/1185	39/394	chr17	TogoVar
KRT35_chr17_41471710_41486151	41477128	G G	T T	stop_gained stop_gained	HIGH	NA19030.hp2 NA19030.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0025 a0008c0011t0001g0025	1	448	0.0022	0	c.129 others(4): Show c.1296C>A	p.Cys others(4): Show p.Cys432*	KRT35	ENSG00000197079.9	transcript	ENST00000246639.7	protein_coding	7/7	1350/1768	1296/1368	432/455	chr17	TogoVar
KRT37_chr17_41415547_41429585	41420977	G G	T T	stop_gained stop_gained	HIGH	NA18906.hp2 NA18906.hp2	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0001 a0010c0013t0001	a0010c0013t0001g0017 a0010c0013t0001g0017	1	409	0.0024	0	c.125 others(4): Show c.1251C>A	p.Cys others(4): Show p.Cys417*	KRT37	ENSG00000108417.4	transcript	ENST00000225550.4	protein_coding	7/7	1313/1743	1251/1350	417/449	chr17	TogoVar
KRT37_chr17_41415547_41429585	41422807	G G	A A	stop_gained stop_gained	HIGH	HG00408.hp2 HG00544.hp2 HG00609.hp1 others(99): Show HG00408.hp2 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG01069.hp2 HG01071.hp1 HG01109.hp1 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01358.hp2 HG01361.hp1 HG01515.hp2 HG01517.hp2 HG02004.hp2 HG02040.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp2 HG02572.hp2 HG02602.hp1 HG02683.hp2 HG02738.hp1 HG02886.hp2 HG02965.hp2 HG03239.hp1 HG03239.hp2 HG03491.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp2 NA18939.hp1 NA18946.hp1 NA18948.hp2 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18960.hp2 NA18962.hp2 NA18965.hp1 NA18967.hp1 NA18968.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18983.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp2 NA18987.hp2 NA18988.hp1 NA18990.hp2 NA18991.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp1 NA18999.hp1 NA19001.hp1 NA19003.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19055.hp1 NA19057.hp1 NA19058.hp2 NA19060.hp2 NA19063.hp2 NA19064.hp1 NA19066.hp2 NA19067.hp2 NA19072.hp2 NA19074.hp1 NA19077.hp2 NA19078.hp2 NA19080.hp2 NA19081.hp1 NA19083.hp2 NA19085.hp1 NA19086.hp1 NA19087.hp1 NA19090.hp2 NA20905.hp1	a0002 a0008 a0002 a0008	a0002c0002 a0002c0020 a0008c0009 a0002c0002 a0002c0020 a0008c0009	a0002c0002t0002 a0002c0020t0002 a0008c0009t0002 a0002c0002t0002 a0002c0020t0002 a0008c0009t0002	a0002c0002t0002g0002 a0002c0002t0002g0013 a0002c0002t0002g0036 others(2): Show a0002c0002t0002g0002 a0002c0002t0002g0013 a0002c0002t0002g0036 a0002c0020t0002g0037 a0008c0009t0002g0015	102	409	0.2494	0	c.703 others(3): Show c.703C>T	p.Gln others(4): Show p.Gln235*	KRT37	ENSG00000108417.4	transcript	ENST00000225550.4	protein_coding	3/7	765/1743	703/1350	235/449	chr17	TogoVar
KRT4_chr12_52801549_52819116	52811974	G G	A A	stop_gained stop_gained	HIGH	HG02080.hp2 HG02080.hp2	a0012 a0012	a0012c0016 a0012c0016	a0012c0016t0001 a0012c0016t0001	a0012c0016t0001g0066 a0012c0016t0001g0066	1	470	0.0021	0	c.466 others(3): Show c.466C>T	p.Gln others(4): Show p.Gln156*	KRT4	ENSG00000170477.13	transcript	ENST00000551956.2	protein_coding	2/9	524/2141	466/1563	156/520	chr12	TogoVar
KRT74_chr12_52560782_52578843	52570824	G G	A A	stop_gained stop_gained	HIGH	HG02451.hp1 HG02451.hp1	a0017 a0017	a0017c0031 a0017c0031	a0017c0031t0001 a0017c0031t0001	a0017c0031t0001g0099 a0017c0031t0001g0099	1	448	0.0022	0	c.853 others(3): Show c.853C>T	p.Gln others(4): Show p.Gln285*	KRT74	ENSG00000170484.10	transcript	ENST00000305620.3	protein_coding	5/9	919/2843	853/1590	285/529	chr12	TogoVar
KRT76_chr12_52763155_52782345	52773632	C C	A A	stop_gained stop_gained	HIGH	HG00099.hp1 HG00099.hp1	a0015 a0015	a0015c0033 a0015c0033	a0015c0033t0002 a0015c0033t0002	a0015c0033t0002g0059 a0015c0033t0002g0059	1	444	0.0023	0	c.826 others(3): Show c.826G>T	p.Glu others(4): Show p.Glu276*	KRT76	ENSG00000185069.2	transcript	ENST00000332411.2	protein_coding	3/9	880/2529	826/1917	276/638	chr12	TogoVar
KRT77_chr12_52684626_52708524	52691379	G G	C C	stop_gained stop_gained	HIGH	NA18967.hp2 NA18970.hp2 NA18967.hp2 NA18970.hp2	a0015 a0015	a0015c0014 a0015c0014	a0015c0014t0001 a0015c0014t0001	a0015c0014t0001g0041 a0015c0014t0001g0041	2	420	0.0048	0	c.152 others(4): Show c.1523C>G	p.Ser others(4): Show p.Ser508*	KRT77	ENSG00000189182.10	transcript	ENST00000341809.8	protein_coding	9/9	1613/3366	1523/1737	508/578	chr12	TogoVar
KRT81_chr12_52280913_52296534	52288038	A A	T T	stop_gained stop_gained	HIGH	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0015 a0015	a0015c0031 a0015c0031	a0015c0031t0002 a0015c0031t0002	a0015c0031t0002g0063 a0015c0031t0002g0063	1	454	0.0022	0	c.846 others(3): Show c.846T>A	p.Tyr others(4): Show p.Tyr282*	KRT81	ENSG00000205426.11	transcript	ENST00000327741.9	protein_coding	5/9	915/1929	846/1518	282/505	chr12	TogoVar
KRT82_chr12_52388931_52411335	52396124	T T	A A	stop_gained stop_gained	HIGH	HG02723.hp1 HG02723.hp1	a0010 a0010	a0010c0017 a0010c0017	a0010c0017t0004 a0010c0017t0004	a0010c0017t0004g0082 a0010c0017t0004g0082	1	370	0.0027	0	c.117 others(4): Show c.1177A>T	p.Lys others(4): Show p.Lys393*	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding	7/9	1235/2644	1177/1542	393/513	chr12	TogoVar
KRT85_chr12_52355006_52372481	52365117	G G	T T	stop_gained stop_gained	HIGH	NA18957.hp1 NA18957.hp1	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0012 a0008c0013t0012	a0008c0013t0012g0036 a0008c0013t0012g0036	1	418	0.0024	0	c.474 others(3): Show c.474C>A	p.Tyr others(4): Show p.Tyr158*	KRT85	ENSG00000135443.8	transcript	ENST00000257901.7	protein_coding	2/9	550/2447	474/1524	158/507	chr12	TogoVar
KRT9_chr17_41560836_41577059	41571857	G G	A A	stop_gained stop_gained	HIGH	HG02683.hp2 HG02683.hp2	a0005 a0005	a0005c0017 a0005c0017	a0005c0017t0001 a0005c0017t0001	a0005c0017t0001g0068 a0005c0017t0001g0068	1	300	0.0033	0	c.136 others(3): Show c.136C>T	p.Arg others(3): Show p.Arg46*	KRT9	ENSG00000171403.10	transcript	ENST00000246662.9	protein_coding	1/8	203/2296	136/1872	46/623	chr17	TogoVar
KRTAP1-1_chr17_41035541_41046450	41041022	C C	A A	stop_gained stop_gained	HIGH	NA19088.hp2 NA19088.hp2	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0001 a0002c0014t0001	a0002c0014t0001g0000 a0002c0014t0001g0000	1	403	0.0025	0	c.376 others(3): Show c.376G>T	p.Glu others(4): Show p.Glu126*	KRTAP1-1	ENSG00000188581.9	transcript	ENST00000306271.5	protein_coding	1/1	429/910	376/534	126/177	chr17	TogoVar
KRTAP1-1_chr17_41035541_41046450	41041247	G G	A A	stop_gained stop_gained	HIGH	HG00558.hp1 HG00558.hp2 HG00597.hp2 others(75): Show HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00735.hp2 HG00738.hp1 HG01071.hp1 HG01099.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp2 HG01358.hp2 HG01496.hp2 HG01928.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp2 HG02015.hp2 HG02040.hp2 HG02071.hp1 HG02074.hp2 HG02165.hp1 HG02258.hp2 HG02559.hp2 HG02615.hp2 HG02717.hp2 HG02809.hp2 HG02965.hp2 HG03017.hp2 HG03041.hp1 HG03453.hp1 HG03579.hp2 HG03704.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18941.hp1 NA18945.hp2 NA18948.hp1 NA18950.hp1 NA18951.hp1 NA18955.hp1 NA18956.hp1 NA18962.hp2 NA18963.hp1 NA18967.hp2 NA18972.hp1 NA18973.hp1 NA18977.hp2 NA18980.hp1 NA18982.hp2 NA18984.hp1 NA18988.hp2 NA18992.hp1 NA18999.hp1 NA19000.hp2 NA19003.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19058.hp1 NA19062.hp2 NA19067.hp2 NA19076.hp1 NA19079.hp2 NA19082.hp1 NA19084.hp2 NA19088.hp2 NA19089.hp1 NA19240.hp1 NA20300.hp1 NA20805.hp1	a0002 a0002	a0002c0002 a0002c0006 a0002c0014 a0002c0002 a0002c0006 a0002c0014	a0002c0002t0001 a0002c0006t0001 a0002c0014t0001 a0002c0002t0001 a0002c0006t0001 a0002c0014t0001	a0002c0002t0001g0000 a0002c0006t0001g0000 a0002c0014t0001g0000 a0002c0002t0001g0000 a0002c0006t0001g0000 a0002c0014t0001g0000	78	403	0.1936	0	c.151 others(3): Show c.151C>T	p.Gln others(3): Show p.Gln51*	KRTAP1-1	ENSG00000188581.9	transcript	ENST00000306271.5	protein_coding	1/1	204/910	151/534	51/177	chr17	TogoVar
KRTAP10-11_chr21_44641414_44652650	44647292	C C	A A	stop_gained stop_gained	HIGH	NA18989.hp1 NA18989.hp1	a0017 a0017	a0017c0021 a0017c0021	a0017c0021t0001 a0017c0021t0001	a0017c0021t0001g0000 a0017c0021t0001g0000	1	422	0.0024	0	c.834 others(3): Show c.834C>A	p.Cys others(4): Show p.Cys278*	KRTAP10-11	ENSG00000243489.4	transcript	ENST00000334670.9	protein_coding	1/1	879/1237	834/897	278/298	chr21	TogoVar
KRTAP10-4_chr21_44568729_44580371	44574515	C C	T T	stop_gained stop_gained	HIGH	HG01496.hp1 HG01496.hp1	a0029 a0029	a0029c0031 a0029c0031	a0029c0031t0003 a0029c0031t0003	a0029c0031t0003g0000 a0029c0031t0003g0000	1	476	0.0021	0	c.757 others(3): Show c.757C>T	p.Gln others(4): Show p.Gln253*	KRTAP10-4	ENSG00000215454.7	transcript	ENST00000400374.4	protein_coding	1/1	787/1643	757/1206	253/401	chr21	TogoVar
KRTAP10-6_chr21_44586268_44597505	44591702	G G	T T	stop_gained stop_gained	HIGH	HG00099.hp1 HG00280.hp2 HG00408.hp2 others(113): Show HG00099.hp1 HG00280.hp2 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01106.hp2 HG01123.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01255.hp2 HG01257.hp2 HG01258.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01928.hp2 HG01943.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02135.hp2 HG02148.hp1 HG02165.hp2 HG02258.hp1 HG02293.hp2 HG02523.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02698.hp1 HG02717.hp1 HG02809.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG03017.hp1 HG03098.hp1 HG03130.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp2 HG03831.hp2 NA18522.hp1 NA18612.hp2 NA18939.hp2 NA18940.hp1 NA18943.hp1 NA18943.hp2 NA18947.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18961.hp1 NA18961.hp2 NA18963.hp2 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18971.hp2 NA18972.hp1 NA18975.hp1 NA18979.hp2 NA18980.hp1 NA18986.hp1 NA18999.hp1 NA19007.hp1 NA19011.hp2 NA19012.hp2 NA19043.hp2 NA19054.hp1 NA19060.hp2 NA19064.hp2 NA19065.hp1 NA19067.hp1 NA19072.hp1 NA19072.hp2 NA19077.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19091.hp2 NA20752.hp2	a0002 a0006 a0012 others(13): Show a0002 a0006 a0012 a0013 a0014 a0016 a0017 a0028 a0030 a0038 a0043 a0044 a0046 a0047 a0048 a0050	a0002c0002 a0002c0005 a0002c0025 others(20): Show a0002c0002 a0002c0005 a0002c0025 a0002c0041 a0002c0042 a0002c0046 a0006c0008 a0012c0011 a0013c0014 a0014c0028 a0014c0029 a0014c0068 a0016c0022 a0017c0018 a0028c0067 a0030c0060 a0038c0054 a0043c0047 a0044c0040 a0046c0049 a0047c0039 a0048c0045 a0050c0062	a0002c0002t0002 a0002c0005t0002 a0002c0025t0002 others(22): Show a0002c0002t0002 a0002c0005t0002 a0002c0025t0002 a0002c0025t0005 a0002c0041t0002 a0002c0042t0002 a0002c0046t0002 a0006c0008t0002 a0012c0011t0002 a0013c0014t0002 a0014c0028t0002 a0014c0029t0002 a0014c0068t0002 a0016c0022t0002 a0016c0022t0005 a0017c0018t0002 a0028c0067t0002 a0030c0060t0002 a0038c0054t0002 a0043c0047t0002 a0044c0040t0002 a0046c0049t0002 a0047c0039t0002 a0048c0045t0002 a0050c0062t0002	a0002c0002t0002g0000 a0002c0005t0002g0000 a0002c0025t0002g0000 others(22): Show a0002c0002t0002g0000 a0002c0005t0002g0000 a0002c0025t0002g0000 a0002c0025t0005g0000 a0002c0041t0002g0000 a0002c0042t0002g0000 a0002c0046t0002g0000 a0006c0008t0002g0000 a0012c0011t0002g0000 a0013c0014t0002g0000 a0014c0028t0002g0000 a0014c0029t0002g0000 a0014c0068t0002g0000 a0016c0022t0002g0000 a0016c0022t0005g0000 a0017c0018t0002g0000 a0028c0067t0002g0000 a0030c0060t0002g0000 a0038c0054t0002g0000 a0043c0047t0002g0000 a0044c0040t0002g0000 a0046c0049t0002g0000 a0047c0039t0002g0000 a0048c0045t0002g0000 a0050c0062t0002g0000	116	428	0.2710	0	c.783 others(3): Show c.783C>A	p.Cys others(4): Show p.Cys261*	KRTAP10-6	ENSG00000188155.11	transcript	ENST00000400368.1	protein_coding	1/1	804/1238	783/1098	261/365	chr21	TogoVar
KRTAP13-1_chr21_30391031_30401822	30396176	C C	A A	stop_gained stop_gained	HIGH	HG01975.hp1 HG01975.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0000 a0004c0008t0001g0000	1	424	0.0024	0	c.90C others(2): Show c.90C>A	p.Tyr others(3): Show p.Tyr30*	KRTAP13-1	ENSG00000198390.5	transcript	ENST00000355459.4	protein_coding	1/1	146/792	90/519	30/172	chr21	TogoVar
KRTAP13-2_chr21_30366390_30377271	30371809	A A	T T	stop_gained stop_gained	HIGH	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(118): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00438.hp2 HG00544.hp1 HG00621.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG01978.hp1 HG01978.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02056.hp2 HG02074.hp2 HG02080.hp1 HG02132.hp2 HG02135.hp2 HG02155.hp2 HG02280.hp2 HG02559.hp1 HG02602.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02735.hp1 HG02738.hp1 HG02818.hp1 HG02970.hp1 HG02976.hp2 HG03239.hp1 HG03471.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp1 NA18940.hp2 NA18942.hp1 NA18945.hp2 NA18947.hp2 NA18949.hp2 NA18951.hp2 NA18955.hp1 NA18961.hp2 NA18965.hp1 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp2 NA18991.hp1 NA18997.hp2 NA19001.hp1 NA19003.hp1 NA19003.hp2 NA19005.hp2 NA19009.hp1 NA19043.hp1 NA19054.hp2 NA19055.hp2 NA19065.hp1 NA19065.hp2 NA19080.hp1 NA19083.hp1 NA19084.hp1 NA19085.hp1 NA19086.hp1 NA19087.hp2 NA19088.hp2 NA20129.hp2 NA20805.hp1 NA20805.hp2	a0002 a0007 a0008 others(1): Show a0002 a0007 a0008 a0010	a0002c0002 a0007c0007 a0008c0008 others(1): Show a0002c0002 a0007c0007 a0008c0008 a0010c0009	a0002c0002t0001 a0007c0007t0001 a0008c0008t0001 others(1): Show a0002c0002t0001 a0007c0007t0001 a0008c0008t0001 a0010c0009t0001	a0002c0002t0001g0000 a0007c0007t0001g0000 a0008c0008t0001g0000 others(1): Show a0002c0002t0001g0000 a0007c0007t0001g0000 a0008c0008t0001g0000 a0010c0009t0001g0000	121	462	0.2619	0	c.405 others(3): Show c.405T>A	p.Cys others(4): Show p.Cys135*	KRTAP13-2	ENSG00000182816.9	transcript	ENST00000399889.4	protein_coding	1/1	463/882	405/528	135/175	chr21	TogoVar
KRTAP13-2_chr21_30366390_30377271	30372169	A A	T T	stop_gained stop_gained	HIGH	NA18975.hp1 NA18975.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0001 a0008c0008t0001	a0008c0008t0001g0000 a0008c0008t0001g0000	1	462	0.0022	0	c.45T others(2): Show c.45T>A	p.Cys others(3): Show p.Cys15*	KRTAP13-2	ENSG00000182816.9	transcript	ENST00000399889.4	protein_coding	1/1	103/882	45/528	15/175	chr21	TogoVar
KRTAP19-5_chr21_30496657_30507141	30501959	G G	C C	stop_gained stop_gained	HIGH	NA19002.hp2 NA19002.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0000 a0003c0006t0001g0000	1	422	0.0024	0	c.132 others(3): Show c.132C>G	p.Tyr others(3): Show p.Tyr44*	KRTAP19-5	ENSG00000186977.3	transcript	ENST00000334151.3	protein_coding	1/1	183/485	132/219	44/72	chr21	TogoVar
KRTAP2-1_chr17_41041541_41052316	41046970	G G	A A	stop_gained stop_gained	HIGH	HG02056.hp2 HG02056.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0000 a0008c0009t0001g0000	1	407	0.0025	0	c.298 others(3): Show c.298C>T	p.Gln others(4): Show p.Gln100*	KRTAP2-1	ENSG00000212725.4	transcript	ENST00000391419.3	protein_coding	1/1	347/776	298/387	100/128	chr17	TogoVar
KRTAP2-2_chr17_41049498_41060230	41054887	C C	CGCAGGGG others(188): Show CGCAGGGGGACTGCACAGACACAGGCTGGCAGCAGGTGGTGGCTCAGCAG GAGGAGGTCCTGCAGGTGGTGCTGCAAGGGGTCGGCTGGCCGCAGGGGGA CTGCACAGACACAGGCTGGCAGCAGGTGGTGGCTCAGCAGGAGGAGGTCC TGCAGGTGGTGCTGCAAGGGGTCGGCTGGCCGCAGGGGGGCCGGCA	stop_gained others(1): Show stop_gained conservative_inframe_insertion	HIGH	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0000 a0001c0014t0001g0000	1	411	0.0024	195	c.324 others(202): Show c.324_325insTGCCGGCCCCCCTGCGGCCAGCCGACCCCTTGCAGCAC CACCTGCAGGACCTCCTCCTGCTGAGCCACCACCTGCTGCCAGCCTGTGT CTGTGCAGTCCCCCTGCGGCCAGCCGACCCCTTGCAGCACCACCTGCAGG ACCTCCTCCTGCTGAGCCACCACCTGCTGCCAGCCTGTGTCTGTGCAGTC CCCCTGC	p.Cys others(208): Show p.Cys108_Gly109insCysArgProProCysGlyGlnProThrProCy sSerThrThrCysArgThrSerSerCysTerAlaThrThrCysCysGlnP roValSerValGlnSerProCysGlyGlnProThrProCysSerThrThr CysArgThrSerSerCysTerAlaThrThrCysCysGlnProValSerVa lGlnSerProCys	KRTAP2-2	ENSG00000214518.4	transcript	ENST00000398477.1	protein_coding	1/1	343/733	324/372	108/123	chr17	TogoVar
KRTAP2-2_chr17_41049498_41060230	41054887	C C	CGCAGGGG others(98): Show CGCAGGGGGACTGCACAGACACAGGCTGGCAGCAGGTGGTGGCTCAGCAG GAGGAGGTCCTGCAGGTGGTGCTGCAAGGGGTCGGCTGGCCGCAGGGGGG CCGGCA	stop_gained others(1): Show stop_gained conservative_inframe_insertion	HIGH	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(144): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01258.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02056.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp1 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp2 HG02257.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp2 HG02622.hp1 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02895.hp1 HG02965.hp1 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03654.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp2 NA18522.hp1 NA18612.hp1 NA18906.hp1 NA18942.hp1 NA18947.hp1 NA18955.hp1 NA18956.hp2 NA18957.hp2 NA18966.hp1 NA18973.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp2 NA18998.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19057.hp2 NA19058.hp2 NA19062.hp2 NA19067.hp1 NA19075.hp2 NA19079.hp2 NA19080.hp1 NA19084.hp1 NA19087.hp1 NA19088.hp1 NA19240.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0004 a0001c0002 a0003c0004	a0001c0002t0001 a0001c0002t0005 a0001c0002t0013 others(2): Show a0001c0002t0001 a0001c0002t0005 a0001c0002t0013 a0003c0004t0001 a0003c0004t0008	a0001c0002t0001g0000 a0001c0002t0005g0000 a0001c0002t0013g0000 others(2): Show a0001c0002t0001g0000 a0001c0002t0005g0000 a0001c0002t0013g0000 a0003c0004t0001g0000 a0003c0004t0008g0000	147	411	0.3577	105	c.324 others(112): Show c.324_325insTGCCGGCCCCCCTGCGGCCAGCCGACCCCTTGCAGCAC CACCTGCAGGACCTCCTCCTGCTGAGCCACCACCTGCTGCCAGCCTGTGT CTGTGCAGTCCCCCTGC	p.Cys others(118): Show p.Cys108_Gly109insCysArgProProCysGlyGlnProThrProCy sSerThrThrCysArgThrSerSerCysTerAlaThrThrCysCysGlnP roValSerValGlnSerProCys	KRTAP2-2	ENSG00000214518.4	transcript	ENST00000398477.1	protein_coding	1/1	343/733	324/372	108/123	chr17	TogoVar
KRTAP2-2_chr17_41049498_41060230	41054892	G G	GGGGACTG others(98): Show GGGGACTGCACAGACACAGGCTGGCAGCAGGTGGTGGCTCAGCAGGAGGA GGTCCTGCAGGTGGTGCTGCAAGGGGTCGGCTGGCCGCAGGGGGGCCGGC AGCAGA	stop_gained others(1): Show stop_gained conservative_inframe_insertion	HIGH	HG02523.hp2 NA18969.hp2 NA19006.hp2 others(2): Show HG02523.hp2 NA18969.hp2 NA19006.hp2 NA19070.hp2 NA19075.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0000 a0006c0008t0001g0000	5	411	0.0122	105	c.319 others(112): Show c.319_320insTCTGCTGCCGGCCCCCCTGCGGCCAGCCGACCCCTTGC AGCACCACCTGCAGGACCTCCTCCTGCTGAGCCACCACCTGCTGCCAGCC TGTGTCTGTGCAGTCCC	p.Ser others(118): Show p.Ser106_Pro107insLeuCysCysArgProProCysGlyGlnProTh rProCysSerThrThrCysArgThrSerSerCysTerAlaThrThrCysC ysGlnProValSerValGlnSer	KRTAP2-2	ENSG00000214518.4	transcript	ENST00000398477.1	protein_coding	1/1	338/733	319/372	107/123	chr17	TogoVar

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