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	status	chr	external
DUSP9_chrX_153642203_153656326	153650103	A A	AC AC	frameshift_variant frameshift_variant	HIGH	NA18987.hp1 NA18987.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0020 a0005c0009t0020	a0005c0009t0020g0013 a0005c0009t0020g0013	1	328	0.0031	1	c.955 others(4): Show c.955dupC	p.Leu others(5): Show p.Leu319fs	DUSP9	ENSG00000130829.18	transcript	ENST00000342782.4	protein_coding	4/4	1214/2434	956/1155	319/384	INFO_REALIGN_3_PRIME	chrX	TogoVar
DUSP9_chrX_153642203_153656326	153650211	A A	AG AG	frameshift_variant frameshift_variant	HIGH	NA18987.hp1 NA18987.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0020 a0005c0009t0020	a0005c0009t0020g0013 a0005c0009t0020g0013	1	328	0.0031	1	c.106 others(5): Show c.1064dupG	p.Ser others(5): Show p.Ser356fs	DUSP9	ENSG00000130829.18	transcript	ENST00000342782.4	protein_coding	4/4	1323/2434	1065/1155	355/384	INFO_REALIGN_3_PRIME	chrX	TogoVar
DUSP9_chrX_153642203_153656326	153650218	T T	TG TG	frameshift_variant frameshift_variant	HIGH	NA18987.hp1 NA18987.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0020 a0005c0009t0020	a0005c0009t0020g0013 a0005c0009t0020g0013	1	328	0.0031	1	c.107 others(5): Show c.1074dupG	p.Gln others(5): Show p.Gln359fs	DUSP9	ENSG00000130829.18	transcript	ENST00000342782.4	protein_coding	4/4	1333/2434	1075/1155	359/384	INFO_REALIGN_3_PRIME	chrX	TogoVar
E2F2_chr1_23501438_23536233	23530541	C C	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18987.hp1 NA18987.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0016 a0002c0002t0016	a0002c0002t0016g0032 a0002c0002t0016g0032	1	396	0.0025	0	c.252 others(5): Show c.252+1G>T		E2F2	ENSG00000007968.7	transcript	ENST00000361729.3	protein_coding	1/6					chr1	TogoVar
EBLN2_chr3_73056659_73068337	73062330	C C	CA CA	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00423.hp2 HG00597.hp1 others(111): Show HG00099.hp1 HG00423.hp2 HG00597.hp1 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00738.hp2 HG01069.hp1 HG01192.hp1 HG01243.hp1 HG01346.hp2 HG01515.hp2 HG01884.hp2 HG01993.hp1 HG02027.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02738.hp2 HG02809.hp2 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03239.hp1 HG03453.hp1 HG03491.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04204.hp1 HG04204.hp2 NA18612.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18948.hp1 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp2 NA18964.hp1 NA18965.hp1 NA18966.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18972.hp2 NA18973.hp1 NA18978.hp2 NA18979.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp2 NA18987.hp1 NA18990.hp2 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19056.hp1 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp2 NA19067.hp1 NA19070.hp2 NA19072.hp2 NA19074.hp2 NA19075.hp2 NA19077.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19087.hp2 NA19089.hp1 NA19240.hp1 NA20805.hp1 NA20905.hp1	a0002 a0005 a0006 a0002 a0005 a0006	a0002c0002 a0002c0009 a0005c0006 others(1): Show a0002c0002 a0002c0009 a0005c0006 a0006c0007	a0002c0002t0002 a0002c0002t0003 a0002c0002t0009 others(8): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0009 a0002c0002t0012 a0002c0002t0013 a0002c0002t0014 a0002c0002t0022 a0002c0002t0023 a0002c0009t0003 a0005c0006t0002 a0006c0007t0002	a0002c0002t0002g0000 a0002c0002t0003g0000 a0002c0002t0009g0000 others(8): Show a0002c0002t0002g0000 a0002c0002t0003g0000 a0002c0002t0009g0000 a0002c0002t0012g0000 a0002c0002t0013g0000 a0002c0002t0014g0000 a0002c0002t0022g0000 a0002c0002t0023g0000 a0002c0009t0003g0000 a0005c0006t0002g0000 a0006c0007t0002g0000	114	428	0.2664	1	c.250 others(4): Show c.250dupA	p.Arg others(4): Show p.Arg84fs	EBLN2	ENSG00000255423.1	transcript	ENST00000533473.1	protein_coding	1/1	674/1679	251/819	84/272	INFO_REALIGN_3_PRIME	chr3	TogoVar
ECEL1_chr2_232474827_232492834	232487718	C C	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0127 a0001c0001t0005g0127	1	438	0.0023	0	c.-10 others(6): Show c.-102+1G>C		ECEL1	ENSG00000171551.12	transcript	ENST00000304546.6	protein_coding	1/17					chr2	TogoVar
ENTR1_chr9_136396922_136415614	136410362	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00558.hp1 HG01496.hp2 HG01952.hp1 others(13): Show HG00558.hp1 HG01496.hp2 HG01952.hp1 HG01978.hp2 HG02056.hp1 HG02148.hp1 HG02572.hp2 HG03139.hp1 HG03831.hp2 NA18941.hp2 NA18987.hp2 NA18988.hp2 NA19006.hp1 NA19058.hp1 NA19063.hp2 NA19067.hp2	a0003 a0003	a0003c0005 a0003c0007 a0003c0008 others(3): Show a0003c0005 a0003c0007 a0003c0008 a0003c0015 a0003c0016 a0003c0017	a0003c0005t0001 a0003c0005t0016 a0003c0007t0002 others(4): Show a0003c0005t0001 a0003c0005t0016 a0003c0007t0002 a0003c0008t0003 a0003c0015t0002 a0003c0016t0002 a0003c0017t0004	a0003c0005t0001g0081 a0003c0005t0001g0082 a0003c0005t0001g0083 others(12): Show a0003c0005t0001g0081 a0003c0005t0001g0082 a0003c0005t0001g0083 a0003c0005t0001g0084 a0003c0005t0001g0089 a0003c0005t0016g0070 a0003c0007t0002g0029 a0003c0007t0002g0087 a0003c0007t0002g0088 a0003c0008t0003g0052 a0003c0008t0003g0053 a0003c0008t0003g0054 a0003c0015t0002g0086 a0003c0016t0002g0085 a0003c0017t0004g0071	16	412	0.0388	1	c.35d others(3): Show c.35dupC	p.Leu others(4): Show p.Leu13fs	ENTR1	ENSG00000165689.17	transcript	ENST00000357365.8	protein_coding	1/10	252/2391	35/1308	12/435		chr9	TogoVar
ERV3-1_chr7_64985356_65011687	64992360	G G	A A	stop_gained stop_gained	HIGH	HG00140.hp1 HG00408.hp2 HG00558.hp2 others(60): Show HG00140.hp1 HG00408.hp2 HG00558.hp2 HG00597.hp1 HG00733.hp1 HG01074.hp1 HG01099.hp2 HG01106.hp1 HG01168.hp1 HG01169.hp1 HG01928.hp2 HG01981.hp2 HG02056.hp1 HG02080.hp1 HG02293.hp1 HG02523.hp1 HG02717.hp2 HG02735.hp1 HG03239.hp1 HG03654.hp2 HG03669.hp2 HG03942.hp2 NA18747.hp1 NA18939.hp2 NA18944.hp1 NA18946.hp1 NA18951.hp2 NA18952.hp2 NA18962.hp1 NA18964.hp1 NA18966.hp2 NA18967.hp2 NA18973.hp1 NA18974.hp1 NA18980.hp2 NA18981.hp1 NA18983.hp1 NA18987.hp2 NA18988.hp1 NA18989.hp2 NA18990.hp1 NA18999.hp2 NA19002.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp2 NA19055.hp2 NA19056.hp1 NA19062.hp1 NA19063.hp1 NA19070.hp2 NA19074.hp2 NA19076.hp1 NA19077.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp2 NA19088.hp2 NA19089.hp1 NA19090.hp1 NA19091.hp1 NA20805.hp1	a0003 a0013 a0003 a0013	a0003c0003 a0013c0019 a0003c0003 a0013c0019	a0003c0003t0001 a0013c0019t0001 a0003c0003t0001 a0013c0019t0001	a0003c0003t0001g0003 a0003c0003t0001g0015 a0003c0003t0001g0021 others(12): Show a0003c0003t0001g0003 a0003c0003t0001g0015 a0003c0003t0001g0021 a0003c0003t0001g0030 a0003c0003t0001g0042 a0003c0003t0001g0044 a0003c0003t0001g0046 a0003c0003t0001g0047 a0003c0003t0001g0092 a0003c0003t0001g0102 a0003c0003t0001g0103 a0003c0003t0001g0104 a0003c0003t0001g0115 a0003c0003t0001g0116 a0013c0019t0001g0105	63	458	0.1376	0	c.667 others(3): Show c.667C>T	p.Arg others(4): Show p.Arg223*	ERV3-1	ENSG00000213462.5	transcript	ENST00000394323.3	protein_coding	2/2	1202/3206	667/1815	223/604		chr7	TogoVar
FOXD4L3_chr9_68297867_68310084	68303273	A A	T T	stop_gained stop_gained	HIGH	HG00423.hp1 HG00544.hp2 HG00621.hp1 others(81): Show HG00423.hp1 HG00544.hp2 HG00621.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01070.hp2 HG01074.hp1 HG01167.hp1 HG01167.hp2 HG01192.hp1 HG01243.hp1 HG01361.hp1 HG01496.hp1 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG02015.hp1 HG02040.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02300.hp1 HG02300.hp2 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02818.hp1 HG02886.hp2 HG03017.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03491.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03704.hp1 HG03927.hp2 HG04115.hp2 HG04199.hp1 NA18906.hp1 NA18939.hp2 NA18942.hp1 NA18952.hp2 NA18957.hp1 NA18961.hp1 NA18962.hp2 NA18968.hp2 NA18982.hp2 NA18984.hp1 NA18985.hp2 NA18987.hp1 NA18991.hp2 NA18994.hp1 NA19001.hp2 NA19005.hp1 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19057.hp2 NA19065.hp1 NA19074.hp2 NA19077.hp1 NA19085.hp1 NA19085.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2	a0001 a0007 a0001 a0007	a0001c0002 a0001c0003 a0001c0014 others(2): Show a0001c0002 a0001c0003 a0001c0014 a0001c0015 a0007c0011	a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 others(3): Show a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 a0001c0014t0001 a0001c0015t0001 a0007c0011t0001	a0001c0002t0001g0000 a0001c0002t0003g0000 a0001c0003t0001g0000 others(3): Show a0001c0002t0001g0000 a0001c0002t0003g0000 a0001c0003t0001g0000 a0001c0014t0001g0000 a0001c0015t0001g0000 a0007c0011t0001g0000	84	175	0.4800	0	c.322 others(3): Show c.322A>T	p.Lys others(4): Show p.Lys108*	FOXD4L3	ENSG00000187559.6	transcript	ENST00000342833.4	protein_coding	1/1	407/2218	322/1254	108/417		chr9	TogoVar
FRS2_chr12_69465388_69584793	69571314	TTTAACAT others(21): Show TTTAACATGTTGCAAGAGATTATGCAAAA	T T	frameshift_variant frameshift_variant	HIGH	NA18987.hp1 NA18987.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0324 a0003c0003t0002g0324	1	342	0.0029	-28	c.294 others(35): Show c.294_321delTAACATGTTGCAAGAGATTATGCAAAAT	p.Phe others(4): Show p.Phe98fs	FRS2	ENSG00000166225.9	transcript	ENST00000549921.6	protein_coding	7/9	697/6768	294/1527	98/508	INFO_REALIGN_3_PRIME	chr12	TogoVar
FTHL17_chrX_31066233_31077041	31071512	C C	A A	stop_gained stop_gained	HIGH	HG00408.hp2 HG00544.hp2 HG02165.hp2 others(34): Show HG00408.hp2 HG00544.hp2 HG02165.hp2 HG02602.hp1 HG02683.hp2 HG02717.hp1 HG03491.hp1 HG03492.hp1 HG03669.hp1 HG03927.hp2 HG04184.hp2 NA18612.hp1 NA18939.hp1 NA18943.hp1 NA18952.hp1 NA18964.hp1 NA18965.hp1 NA18975.hp2 NA18982.hp1 NA18986.hp1 NA18987.hp2 NA18992.hp1 NA18997.hp2 NA18998.hp2 NA18999.hp2 NA19003.hp1 NA19006.hp1 NA19010.hp1 NA19054.hp2 NA19057.hp1 NA19063.hp1 NA19065.hp2 NA19067.hp1 NA19068.hp1 NA19080.hp1 NA19081.hp1 NA19082.hp1	a0002 a0004 a0006 a0002 a0004 a0006	a0002c0003 a0002c0004 a0004c0006 others(1): Show a0002c0003 a0002c0004 a0004c0006 a0006c0007	a0002c0003t0001 a0002c0004t0001 a0004c0006t0001 others(1): Show a0002c0003t0001 a0002c0004t0001 a0004c0006t0001 a0006c0007t0001	a0002c0003t0001g0000 a0002c0004t0001g0000 a0004c0006t0001g0000 others(1): Show a0002c0003t0001g0000 a0002c0004t0001g0000 a0004c0006t0001g0000 a0006c0007t0001g0000	37	336	0.1101	0	c.442 others(3): Show c.442G>T	p.Glu others(4): Show p.Glu148*	FTHL17	ENSG00000132446.7	transcript	ENST00000359202.5	protein_coding	1/1	530/809	442/552	148/183		chrX	TogoVar
FZD8_chr10_35633247_35647296	35639499	GGC GGC	G G	frameshift_variant frameshift_variant	HIGH	HG02132.hp2 NA18954.hp2 NA18979.hp2 others(2): Show HG02132.hp2 NA18954.hp2 NA18979.hp2 NA18987.hp2 NA19089.hp2	a0000 a0000	a0000c0005 a0000c0005	a0000c0005t0001 a0000c0005t0004 a0000c0005t0001 a0000c0005t0004	a0000c0005t0001g0000 a0000c0005t0004g0000 a0000c0005t0001g0000 a0000c0005t0004g0000	5	404	0.0124	-2	c.192 others(11): Show c.1929_1930delGC	p.Pro others(5): Show p.Pro644fs	FZD8	ENSG00000177283.8	transcript	ENST00000374694.3	protein_coding	1/1	2797/4050	1929/2085	643/694		chr10	TogoVar
GDPD4_chr11_77211558_77306686	77243743	T T	TA TA	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(81): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00544.hp1 HG00597.hp1 HG00639.hp1 HG00642.hp2 HG00733.hp2 HG00738.hp1 HG01069.hp2 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01517.hp1 HG01891.hp2 HG02027.hp1 HG02040.hp1 HG02074.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02165.hp1 HG02486.hp2 HG02683.hp2 HG02698.hp2 HG02965.hp2 HG03490.hp2 HG03491.hp1 HG03688.hp2 HG03704.hp1 HG04115.hp2 HG04199.hp2 HG04228.hp2 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18945.hp2 NA18946.hp1 NA18948.hp2 NA18951.hp2 NA18957.hp1 NA18965.hp1 NA18967.hp1 NA18969.hp2 NA18973.hp2 NA18974.hp1 NA18978.hp2 NA18981.hp1 NA18984.hp2 NA18986.hp1 NA18987.hp1 NA18990.hp1 NA18992.hp2 NA18997.hp2 NA18998.hp1 NA18999.hp2 NA19001.hp1 NA19002.hp1 NA19004.hp1 NA19005.hp2 NA19009.hp2 NA19054.hp2 NA19055.hp1 NA19057.hp1 NA19063.hp2 NA19065.hp1 NA19074.hp1 NA19077.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19087.hp2 NA19090.hp1 NA20129.hp1 NA20905.hp1	a0003 a0004 a0006 others(1): Show a0003 a0004 a0006 a0010	a0003c0003 a0004c0004 a0006c0006 others(1): Show a0003c0003 a0004c0004 a0006c0006 a0010c0010	a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 others(6): Show a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0003t0007 a0003c0003t0009 a0003c0003t0012 a0004c0004t0006 a0006c0006t0006 a0010c0010t0003	a0003c0003t0001g0042 a0003c0003t0001g0055 a0003c0003t0001g0073 others(79): Show a0003c0003t0001g0042 a0003c0003t0001g0055 a0003c0003t0001g0073 a0003c0003t0002g0001 a0003c0003t0002g0002 a0003c0003t0002g0010 a0003c0003t0002g0011 a0003c0003t0002g0012 a0003c0003t0002g0013 a0003c0003t0002g0014 a0003c0003t0002g0015 a0003c0003t0002g0016 a0003c0003t0002g0017 a0003c0003t0002g0018 a0003c0003t0002g0019 a0003c0003t0002g0020 a0003c0003t0002g0021 a0003c0003t0002g0022 a0003c0003t0002g0023 a0003c0003t0002g0025 a0003c0003t0002g0026 a0003c0003t0002g0027 a0003c0003t0002g0028 a0003c0003t0002g0029 a0003c0003t0002g0030 a0003c0003t0002g0031 a0003c0003t0002g0032 a0003c0003t0002g0033 a0003c0003t0002g0034 a0003c0003t0002g0035 a0003c0003t0002g0037 a0003c0003t0002g0038 a0003c0003t0002g0039 a0003c0003t0002g0040 a0003c0003t0002g0041 a0003c0003t0002g0043 a0003c0003t0002g0044 a0003c0003t0002g0045 a0003c0003t0002g0046 a0003c0003t0002g0049 a0003c0003t0002g0050 a0003c0003t0002g0051 a0003c0003t0002g0053 a0003c0003t0002g0054 a0003c0003t0002g0056 a0003c0003t0002g0057 a0003c0003t0002g0058 a0003c0003t0002g0059 a0003c0003t0002g0060 a0003c0003t0002g0062 a0003c0003t0002g0063 a0003c0003t0002g0064 a0003c0003t0002g0065 a0003c0003t0002g0066 a0003c0003t0002g0067 a0003c0003t0002g0068 a0003c0003t0002g0069 a0003c0003t0002g0071 a0003c0003t0002g0072 a0003c0003t0002g0074 a0003c0003t0002g0075 a0003c0003t0002g0076 a0003c0003t0002g0077 a0003c0003t0002g0078 a0003c0003t0002g0079 a0003c0003t0002g0080 a0003c0003t0002g0083 a0003c0003t0002g0084 a0003c0003t0002g0342 a0003c0003t0003g0009 a0003c0003t0007g0047 a0003c0003t0007g0048 a0003c0003t0007g0081 a0003c0003t0009g0036 a0003c0003t0009g0061 a0003c0003t0012g0070 a0004c0004t0006g0204 a0004c0004t0006g0205 a0004c0004t0006g0208 a0006c0006t0006g0206 a0006c0006t0006g0207 a0010c0010t0003g0086	84	350	0.2400	1	c.119 others(5): Show c.1191dupT	p.Ile others(5): Show p.Ile398fs	GDPD4	ENSG00000178795.10	transcript	ENST00000315938.5	protein_coding	13/17	1526/2617	1191/1563	397/520		chr11	TogoVar
GDPD4_chr11_77211558_77306686	77268541	T T	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02132.hp2 NA18981.hp1 NA18987.hp1 HG02132.hp2 NA18981.hp1 NA18987.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0007 a0003c0003t0007	a0003c0003t0007g0047 a0003c0003t0007g0048 a0003c0003t0007g0081 a0003c0003t0007g0047 a0003c0003t0007g0048 a0003c0003t0007g0081	3	350	0.0086	0	c.625 others(5): Show c.625-2A>C		GDPD4	ENSG00000178795.10	transcript	ENST00000315938.5	protein_coding	9/16					chr11	TogoVar
GIT1_chr17_29568475_29594648	29581382	T T	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	400	0.0025	0	c.719 others(5): Show c.719-2A>T		GIT1	ENSG00000108262.16	transcript	ENST00000225394.8	protein_coding	6/19					chr17	TogoVar
GOLGA8S_chr15_23349748_23373341	23364403	G G	T T	stop_gained stop_gained	HIGH	HG00280.hp1 HG00438.hp1 HG00544.hp1 others(75): Show HG00280.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp2 HG01074.hp2 HG01081.hp1 HG01192.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01943.hp2 HG02015.hp1 HG02040.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02523.hp1 HG02523.hp2 HG02602.hp2 HG02738.hp2 HG03491.hp1 HG03492.hp1 HG03834.hp2 HG04228.hp2 NA18747.hp2 NA18939.hp2 NA18940.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18948.hp2 NA18949.hp2 NA18953.hp1 NA18954.hp2 NA18956.hp2 NA18957.hp1 NA18959.hp2 NA18967.hp1 NA18969.hp1 NA18972.hp2 NA18977.hp2 NA18980.hp2 NA18983.hp1 NA18987.hp1 NA18989.hp2 NA18995.hp2 NA18998.hp1 NA19001.hp1 NA19001.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19059.hp2 NA19062.hp1 NA19063.hp1 NA19066.hp1 NA19068.hp2 NA19070.hp1 NA19072.hp1 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19084.hp2 NA19085.hp2 NA19090.hp2	a0002 a0013 a0016 others(17): Show a0002 a0013 a0016 a0021 a0022 a0024 a0029 a0030 a0034 a0039 a0044 a0050 a0051 a0061 a0067 a0080 a0081 a0087 a0088 a0089	a0002c0002 a0002c0086 a0002c0087 others(23): Show a0002c0002 a0002c0086 a0002c0087 a0002c0088 a0002c0090 a0013c0010 a0016c0017 a0021c0020 a0022c0033 a0022c0069 a0024c0024 a0029c0035 a0030c0038 a0034c0072 a0034c0092 a0039c0040 a0044c0045 a0050c0100 a0051c0099 a0061c0077 a0067c0080 a0080c0076 a0081c0058 a0087c0104 a0088c0103 a0089c0102	a0002c0002t0001 a0002c0002t0020 a0002c0086t0001 others(24): Show a0002c0002t0001 a0002c0002t0020 a0002c0086t0001 a0002c0087t0024 a0002c0088t0001 a0002c0090t0001 a0013c0010t0001 a0016c0017t0001 a0021c0020t0001 a0022c0033t0001 a0022c0069t0001 a0024c0024t0001 a0029c0035t0001 a0030c0038t0001 a0034c0072t0001 a0034c0092t0001 a0039c0040t0001 a0044c0045t0001 a0050c0100t0001 a0051c0099t0001 a0061c0077t0001 a0067c0080t0001 a0080c0076t0001 a0081c0058t0001 a0087c0104t0001 a0088c0103t0001 a0089c0102t0001	a0002c0002t0001g0004 a0002c0002t0001g0011 a0002c0002t0001g0018 others(61): Show a0002c0002t0001g0004 a0002c0002t0001g0011 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0049 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0141 a0002c0002t0001g0167 a0002c0002t0001g0188 a0002c0002t0001g0191 a0002c0002t0001g0195 a0002c0002t0001g0198 a0002c0002t0001g0201 a0002c0002t0001g0203 a0002c0002t0001g0204 a0002c0002t0001g0207 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0212 a0002c0002t0001g0216 a0002c0002t0001g0218 a0002c0002t0001g0221 a0002c0002t0001g0241 a0002c0002t0001g0242 a0002c0002t0001g0243 a0002c0002t0020g0020 a0002c0086t0001g0170 a0002c0087t0024g0004 a0002c0088t0001g0237 a0002c0090t0001g0018 a0013c0010t0001g0056 a0013c0010t0001g0224 a0013c0010t0001g0277 a0013c0010t0001g0278 a0016c0017t0001g0017 a0016c0017t0001g0048 a0016c0017t0001g0190 a0021c0020t0001g0017 a0021c0020t0001g0200 a0021c0020t0001g0240 a0022c0033t0001g0205 a0022c0033t0001g0284 a0022c0069t0001g0161 a0024c0024t0001g0182 a0024c0024t0001g0183 a0029c0035t0001g0047 a0030c0038t0001g0211 a0030c0038t0001g0213 a0034c0072t0001g0196 a0034c0092t0001g0011 a0039c0040t0001g0050 a0044c0045t0001g0020 a0050c0100t0001g0202 a0051c0099t0001g0192 a0061c0077t0001g0219 a0067c0080t0001g0220 a0080c0076t0001g0206 a0081c0058t0001g0215 a0087c0104t0001g0018 a0088c0103t0001g0194 a0089c0102t0001g0048	78	430	0.1814	0	c.144 others(4): Show c.1447G>T	p.Glu others(4): Show p.Glu483*	GOLGA8S	ENSG00000261739.3	transcript	ENST00000562295.3	protein_coding	16/19	1509/5186	1447/1917	483/638		chr15	TogoVar
GP1BA_chr17_4927277_4940023	4933871	ACCCCGGA others(72): Show ACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCC CACCTCAGAGCCCGCCCCCAGCCCGACCAC	A A	frameshift_variant frameshift_variant	HIGH	NA18987.hp1 NA18987.hp1	a0015 a0015	a0015c0017 a0015c0017	a0015c0017t0003 a0015c0017t0003	a0015c0017t0003g0001 a0015c0017t0003g0001	1	424	0.0024	-79	c.127 others(88): Show c.1271_1349delCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCA CCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCC	p.Pro others(5): Show p.Pro424fs	GP1BA	ENSG00000185245.9	transcript	ENST00000329125.6	protein_coding	2/2	1366/2514	1271/1959	424/652	INFO_REALIGN_3_PRIME	chr17	TogoVar
GPR33_chr14_31477875_31493039	31483548	G G	A A	stop_gained stop_gained	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(423): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0003 a0001c0007 others(7): Show a0001c0001 a0001c0003 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0003c0004 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0003t0001 a0001c0007t0001 a0001c0008t0001 a0001c0009t0001 a0001c0010t0001 a0001c0011t0001 a0001c0012t0001 a0003c0004t0001 a0004c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(82): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0002g0006 a0001c0001t0002g0024 a0001c0001t0005g0036 a0001c0003t0001g0013 a0001c0003t0001g0029 a0001c0003t0001g0034 a0001c0003t0001g0056 a0001c0003t0001g0071 a0001c0003t0001g0075 a0001c0003t0001g0083 a0001c0003t0001g0084 a0001c0007t0001g0044 a0001c0008t0001g0048 a0001c0009t0001g0078 a0001c0010t0001g0043 a0001c0011t0001g0054 a0001c0012t0001g0055 a0003c0004t0001g0017 a0003c0004t0001g0027 a0004c0005t0001g0063 a0004c0005t0001g0067	426	448	0.9509	0	c.418 others(3): Show c.418C>T	p.Arg others(4): Show p.Arg140*	GPR33	ENSG00000214943.5	transcript	ENST00000399285.5	protein_coding	2/2	567/1240	418/1002	140/333		chr14	TogoVar
GSDMB_chr17_39899595_39923635	39908216	T T	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(122): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01167.hp2 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01496.hp2 HG01516.hp1 HG01934.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02027.hp1 HG02055.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02135.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02559.hp1 HG02818.hp2 HG02970.hp1 HG03017.hp2 HG03098.hp1 HG03195.hp1 HG03225.hp2 HG03471.hp1 HG03491.hp1 HG03492.hp1 HG03654.hp1 HG03704.hp1 HG03710.hp1 HG03927.hp1 HG04228.hp1 HG04228.hp2 NA18612.hp2 NA18747.hp2 NA18939.hp2 NA18941.hp2 NA18943.hp1 NA18944.hp2 NA18946.hp1 NA18947.hp1 NA18948.hp1 NA18949.hp1 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18957.hp2 NA18961.hp2 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18970.hp1 NA18972.hp1 NA18973.hp2 NA18975.hp1 NA18980.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp2 NA18987.hp1 NA18988.hp2 NA18989.hp1 NA18990.hp2 NA18993.hp1 NA18994.hp2 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19003.hp2 NA19007.hp1 NA19007.hp2 NA19054.hp2 NA19055.hp1 NA19058.hp2 NA19062.hp1 NA19063.hp2 NA19065.hp1 NA19066.hp2 NA19067.hp1 NA19070.hp1 NA19072.hp1 NA19078.hp1 NA19079.hp2 NA19083.hp2 NA19084.hp1 NA19087.hp1 NA19240.hp2 NA20129.hp2 NA20752.hp2 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0004 a0002c0002t0005 a0002c0002t0001 a0002c0002t0004 a0002c0002t0005	a0002c0002t0001g0002 a0002c0002t0001g0004 a0002c0002t0001g0014 others(47): Show a0002c0002t0001g0002 a0002c0002t0001g0004 a0002c0002t0001g0014 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0098 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0132 a0002c0002t0001g0141 a0002c0002t0001g0155 a0002c0002t0004g0156 a0002c0002t0005g0157	125	400	0.3125	0	c.662 others(5): Show c.662-2A>G		GSDMB	ENSG00000073605.19	transcript	ENST00000418519.6	protein_coding	5/10					chr17	TogoVar
GYG2_chrX_2823930_2887818	2877241	C C	CT CT	frameshift_variant frameshift_variant	HIGH	NA18987.hp1 NA18987.hp1	a0008 a0008	a0008c0014 a0008c0014	a0008c0014t0018 a0008c0014t0018	a0008c0014t0018g0147 a0008c0014t0018g0147	1	316	0.0032	1	c.118 others(5): Show c.1187dupT	p.Glu others(5): Show p.Glu397fs	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	10/11	1362/3192	1188/1413	396/470	INFO_REALIGN_3_PRIME	chrX	TogoVar
HCAR2_chr12_122696293_122708357	122702193	TAAGGA TAAGGA	T T	frameshift_variant others(1): Show frameshift_variant stop_lost	HIGH	HG00597.hp1 HG00609.hp1 NA18747.hp1 others(2): Show HG00597.hp1 HG00609.hp1 NA18747.hp1 NA18979.hp2 NA18987.hp2	a0000 a0000	a0000c0004 a0000c0006 a0000c0004 a0000c0006	a0000c0004t0006 a0000c0006t0006 a0000c0004t0006 a0000c0006t0006	a0000c0004t0006g0000 a0000c0006t0006g0000 a0000c0004t0006g0000 a0000c0006t0006g0000	5	428	0.0117	-5	c.108 others(14): Show c.1086_1090delTCCTT	p.Pro others(5): Show p.Pro363fs	HCAR2	ENSG00000182782.8	transcript	ENST00000328880.6	protein_coding	1/1	1164/2065	1086/1092	362/363		chr12	TogoVar
HLA-DPB1_chr6_33070990_33094696	33080689	G G	T T	stop_gained stop_gained	HIGH	HG00280.hp1 HG00323.hp1 HG00673.hp1 others(113): Show HG00280.hp1 HG00323.hp1 HG00673.hp1 HG00733.hp2 HG01074.hp2 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01256.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp2 HG02155.hp2 HG02273.hp2 HG02572.hp2 HG02615.hp2 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03239.hp2 HG03453.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp2 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18948.hp2 NA18954.hp2 NA18955.hp2 NA18956.hp2 NA18957.hp2 NA18959.hp2 NA18962.hp2 NA18966.hp1 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18979.hp1 NA18982.hp1 NA18984.hp1 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18992.hp2 NA18998.hp2 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19009.hp2 NA19010.hp2 NA19055.hp1 NA19056.hp2 NA19057.hp2 NA19062.hp2 NA19064.hp2 NA19066.hp2 NA19068.hp2 NA19070.hp2 NA19072.hp1 NA19079.hp2 NA19081.hp2 NA19087.hp2 NA20752.hp1 NA21309.hp2	a0000 a0006 a0008 others(10): Show a0000 a0006 a0008 a0009 a0011 a0012 a0013 a0014 a0015 a0016 a0025 a0028 a0029	a0000c0009 a0000c0012 a0000c0018 others(15): Show a0000c0009 a0000c0012 a0000c0018 a0000c0019 a0000c0035 a0000c0037 a0006c0006 a0008c0008 a0009c0010 a0011c0013 a0012c0014 a0013c0015 a0014c0020 a0015c0022 a0016c0021 a0025c0031 a0028c0036 a0029c0034	a0000c0009t0006 a0000c0009t0018 a0000c0012t0006 others(18): Show a0000c0009t0006 a0000c0009t0018 a0000c0012t0006 a0000c0018t0012 a0000c0019t0014 a0000c0035t0006 a0000c0037t0006 a0006c0006t0003 a0008c0008t0003 a0008c0008t0013 a0009c0010t0003 a0009c0010t0027 a0011c0013t0008 a0012c0014t0007 a0013c0015t0001 a0014c0020t0003 a0015c0022t0003 a0016c0021t0003 a0025c0031t0030 a0028c0036t0003 a0029c0034t0016	a0000c0009t0006g0014 a0000c0009t0006g0038 a0000c0009t0006g0089 others(31): Show a0000c0009t0006g0014 a0000c0009t0006g0038 a0000c0009t0006g0089 a0000c0009t0006g0090 a0000c0009t0006g0091 a0000c0009t0018g0095 a0000c0009t0018g0096 a0000c0012t0006g0009 a0000c0018t0012g0039 a0000c0019t0014g0049 a0000c0035t0006g0014 a0000c0037t0006g0077 a0006c0006t0003g0004 a0008c0008t0003g0008 a0008c0008t0003g0012 a0008c0008t0003g0081 a0008c0008t0013g0008 a0009c0010t0003g0007 a0009c0010t0003g0114 a0009c0010t0027g0007 a0011c0013t0008g0031 a0011c0013t0008g0034 a0011c0013t0008g0076 a0011c0013t0008g0078 a0012c0014t0007g0013 a0012c0014t0007g0083 a0013c0015t0001g0023 a0013c0015t0001g0088 a0014c0020t0003g0007 a0015c0022t0003g0012 a0016c0021t0003g0045 a0025c0031t0030g0072 a0028c0036t0003g0012 a0029c0034t0016g0098	116	455	0.2550	0	c.118 others(3): Show c.118G>T	p.Gly others(3): Show p.Gly40*	HLA-DPB1	ENSG00000223865.11	transcript	ENST00000418931.7	protein_coding	2/6	170/3991	118/777	40/258		chr6	TogoVar
HOXC9_chr12_53995161_54008337	54000179	C C	CCCCGTTA others(4): Show CCCCGTTACGAT	frameshift_variant others(1): Show frameshift_variant start_lost	HIGH	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0002 a0001c0002t0008g0002	1	342	0.0029	11	c.-9_ others(15): Show c.-9_2dupCCCGTTACGAT	p.Met others(3): Show p.Met1fs	HOXC9	ENSG00000180806.5	transcript	ENST00000303450.5	protein_coding	1/2	31/1474	3/783	1/260	INFO_REALIGN_3_PRIME	chr12	TogoVar
ICAM5_chr19_10284952_10301778	10293783	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00642.hp1 HG00642.hp2 HG00673.hp1 others(32): Show HG00642.hp1 HG00642.hp2 HG00673.hp1 HG01106.hp1 HG01169.hp2 HG01175.hp2 HG01261.hp1 HG01515.hp1 HG01978.hp1 HG02027.hp2 HG02071.hp1 HG02071.hp2 HG02145.hp2 HG02602.hp1 HG02615.hp2 HG02630.hp2 HG02895.hp2 HG03139.hp2 HG03225.hp1 HG03486.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 NA18906.hp1 NA18944.hp2 NA18950.hp1 NA18961.hp1 NA18967.hp2 NA18981.hp1 NA18987.hp1 NA18994.hp2 NA19063.hp1 NA19067.hp1 NA19067.hp2 NA20129.hp2	a0003 a0004 a0003 a0004	a0003c0005 a0003c0008 a0003c0012 others(4): Show a0003c0005 a0003c0008 a0003c0012 a0003c0019 a0004c0006 a0004c0007 a0004c0016	a0003c0005t0001 a0003c0008t0001 a0003c0012t0001 others(4): Show a0003c0005t0001 a0003c0008t0001 a0003c0012t0001 a0003c0019t0001 a0004c0006t0001 a0004c0007t0001 a0004c0016t0001	a0003c0005t0001g0001 a0003c0005t0001g0003 a0003c0005t0001g0014 others(13): Show a0003c0005t0001g0001 a0003c0005t0001g0003 a0003c0005t0001g0014 a0003c0008t0001g0004 a0003c0008t0001g0005 a0003c0008t0001g0006 a0003c0008t0001g0031 a0003c0008t0001g0039 a0003c0012t0001g0009 a0003c0019t0001g0001 a0004c0006t0001g0002 a0004c0006t0001g0016 a0004c0007t0001g0002 a0004c0007t0001g0007 a0004c0007t0001g0019 a0004c0016t0001g0002	35	432	0.0810	1	c.155 others(5): Show c.1555dupG	p.Val others(5): Show p.Val519fs	ICAM5	ENSG00000105376.5	transcript	ENST00000221980.5	protein_coding	7/11	1648/3029	1556/2775	519/924	INFO_REALIGN_3_PRIME	chr19	TogoVar
IFNA10_chr9_21201181_21212143	21207038	A A	T T	stop_gained stop_gained	HIGH	HG00099.hp1 HG00323.hp1 HG00544.hp2 others(191): Show HG00099.hp1 HG00323.hp1 HG00544.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG01069.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01358.hp2 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp2 HG02071.hp2 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp2 HG02280.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02895.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03927.hp1 HG04184.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp1 NA18986.hp2 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19043.hp1 NA19054.hp1 NA19055.hp1 NA19056.hp2 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0003 a0002c0004 others(9): Show a0002c0002 a0002c0003 a0002c0004 a0002c0005 a0002c0006 a0002c0007 a0002c0009 a0002c0010 a0002c0013 a0002c0015 a0002c0016 a0002c0017	a0002c0002t0002 a0002c0002t0012 a0002c0002t0013 others(13): Show a0002c0002t0002 a0002c0002t0012 a0002c0002t0013 a0002c0003t0001 a0002c0003t0005 a0002c0003t0007 a0002c0004t0002 a0002c0005t0002 a0002c0006t0004 a0002c0007t0004 a0002c0009t0006 a0002c0010t0004 a0002c0013t0002 a0002c0015t0002 a0002c0016t0005 a0002c0017t0011	a0002c0002t0002g0000 a0002c0002t0012g0000 a0002c0002t0013g0000 others(13): Show a0002c0002t0002g0000 a0002c0002t0012g0000 a0002c0002t0013g0000 a0002c0003t0001g0000 a0002c0003t0005g0000 a0002c0003t0007g0000 a0002c0004t0002g0000 a0002c0005t0002g0000 a0002c0006t0004g0000 a0002c0007t0004g0000 a0002c0009t0006g0000 a0002c0010t0004g0000 a0002c0013t0002g0000 a0002c0015t0002g0000 a0002c0016t0005g0000 a0002c0017t0011g0000	194	457	0.4245	0	c.60T others(2): Show c.60T>A	p.Cys others(3): Show p.Cys20*	IFNA10	ENSG00000186803.3	transcript	ENST00000357374.2	protein_coding	1/1	106/963	60/570	20/189		chr9	TogoVar
IFNE_chr9_21475839_21487313	21481484	G G	A A	stop_gained stop_gained	HIGH	HG00438.hp2 HG00544.hp1 HG00558.hp1 others(58): Show HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00609.hp1 HG00673.hp2 HG01081.hp2 HG01358.hp1 HG01884.hp2 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02165.hp2 HG02280.hp1 HG02559.hp1 HG02602.hp2 HG02683.hp2 HG02723.hp2 HG03017.hp1 HG03471.hp2 HG03704.hp2 HG04115.hp1 HG04184.hp1 NA18612.hp1 NA18944.hp2 NA18948.hp1 NA18959.hp1 NA18961.hp2 NA18966.hp2 NA18967.hp2 NA18975.hp1 NA18984.hp1 NA18987.hp2 NA18989.hp2 NA18991.hp2 NA18992.hp1 NA18999.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp1 NA19007.hp2 NA19056.hp2 NA19063.hp1 NA19074.hp2 NA19076.hp2 NA19080.hp2 NA19083.hp2 NA19089.hp2 NA20129.hp1 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0000 a0002c0002t0003g0000	61	450	0.1356	0	c.211 others(3): Show c.211C>T	p.Gln others(3): Show p.Gln71*	IFNE	ENSG00000184995.7	transcript	ENST00000448696.4	protein_coding	1/1	830/1475	211/627	71/208		chr9	TogoVar
IRF2BP1_chr19_45878608_45891141	45884308	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00735.hp2 HG01099.hp1 HG01099.hp2 others(11): Show HG00735.hp2 HG01099.hp1 HG01099.hp2 HG01496.hp1 HG02523.hp2 HG03669.hp1 NA18969.hp1 NA18974.hp2 NA18981.hp1 NA18987.hp1 NA18997.hp1 NA19012.hp2 NA19059.hp2 NA19068.hp1	a0003 a0004 a0006 others(1): Show a0003 a0004 a0006 a0007	a0003c0007 a0004c0008 a0006c0016 others(1): Show a0003c0007 a0004c0008 a0006c0016 a0007c0013	a0003c0007t0001 a0003c0007t0002 a0004c0008t0001 others(2): Show a0003c0007t0001 a0003c0007t0002 a0004c0008t0001 a0006c0016t0002 a0007c0013t0001	a0003c0007t0001g0000 a0003c0007t0002g0000 a0004c0008t0001g0000 others(2): Show a0003c0007t0001g0000 a0003c0007t0002g0000 a0004c0008t0001g0000 a0006c0016t0002g0000 a0007c0013t0001g0000	14	416	0.0337	1	c.146 others(5): Show c.1466dupG	p.Gly others(5): Show p.Gly490fs	IRF2BP1	ENSG00000170604.5	transcript	ENST00000302165.5	protein_coding	1/1	1833/2534	1466/1755	489/584		chr19	TogoVar
KCNV1_chr8_109958636_109980771	109974275	C C	CCCGAGCG others(39): Show CCCGAGCGCCAAGGGCTCCCCTTCACCCTCGCTGCAGAAGACACTAG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA18987.hp1 NA18987.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0035 a0002c0004t0002g0035	1	372	0.0027	46	c.68_ others(52): Show c.68_113dupCTAGTGTCTTCTGCAGCGAGGGTGAAGGGGAGCCCTTGG CGCTCGG	p.Asp others(4): Show p.Asp39fs	KCNV1	ENSG00000164794.9	transcript	ENST00000524391.6	protein_coding	2/4	1070/6912	113/1503	38/500		chr8	TogoVar
KDM4A_chr1_43645149_43710518	43660291	CA CA	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00323.hp1 HG00408.hp1 others(188): Show HG00099.hp1 HG00323.hp1 HG00408.hp1 HG00438.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01081.hp2 HG01106.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp2 HG01981.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03831.hp1 HG03927.hp1 HG03942.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18947.hp2 NA18950.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18957.hp2 NA18959.hp1 NA18960.hp2 NA18966.hp2 NA18971.hp1 NA18979.hp1 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18987.hp2 NA18991.hp2 NA18993.hp2 NA18995.hp2 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19002.hp1 NA19003.hp2 NA19004.hp1 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp2 NA19058.hp1 NA19064.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19075.hp1 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19081.hp1 NA19081.hp2 NA19084.hp2 NA19085.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20905.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0001c0010 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0003t0001 a0001c0005t0001 a0001c0010t0001 a0003c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(169): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0316 a0001c0001t0001g0318 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0330 a0001c0001t0002g0019 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0284 a0001c0001t0003g0242 a0001c0001t0003g0288 a0001c0001t0003g0296 a0001c0001t0003g0297 a0001c0001t0003g0304 a0001c0001t0003g0305 a0001c0001t0003g0306 a0001c0001t0003g0317 a0001c0001t0003g0319 a0001c0001t0004g0011 a0001c0001t0004g0012 a0001c0001t0004g0105 a0001c0001t0007g0276 a0001c0003t0001g0287 a0001c0003t0001g0314 a0001c0003t0001g0315 a0001c0003t0001g0328 a0001c0005t0001g0024 a0001c0005t0001g0025 a0001c0005t0001g0026 a0001c0005t0001g0027 a0001c0005t0001g0033 a0001c0005t0001g0034 a0001c0010t0001g0022 a0003c0004t0001g0263 a0003c0004t0001g0265 a0003c0004t0001g0266 a0003c0004t0001g0267 a0003c0004t0001g0268 a0003c0004t0001g0270	191	370	0.5162	-1	c.315 others(6): Show c.315-2delA		KDM4A	ENSG00000066135.13	transcript	ENST00000372396.4	protein_coding	3/21				INFO_REALIGN_3_PRIME	chr1	TogoVar
KLF16_chr19_1847399_1868579	1854587	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00438.hp2 HG00735.hp2 HG01099.hp2 others(23): Show HG00438.hp2 HG00735.hp2 HG01099.hp2 HG01109.hp2 HG01496.hp1 HG01928.hp2 HG01934.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02257.hp1 HG02486.hp1 HG02615.hp2 HG02809.hp1 HG02970.hp2 HG04199.hp2 NA18939.hp1 NA18951.hp2 NA18955.hp1 NA18964.hp1 NA18977.hp1 NA18987.hp2 NA18994.hp1 NA19056.hp2 NA19087.hp1 NA19087.hp2	a0000 a0000	a0000c0004 a0000c0005 a0000c0009 a0000c0004 a0000c0005 a0000c0009	a0000c0004t0002 a0000c0004t0004 a0000c0004t0005 others(5): Show a0000c0004t0002 a0000c0004t0004 a0000c0004t0005 a0000c0004t0018 a0000c0005t0001 a0000c0005t0003 a0000c0005t0006 a0000c0009t0004	a0000c0004t0002g0075 a0000c0004t0002g0081 a0000c0004t0002g0083 others(22): Show a0000c0004t0002g0075 a0000c0004t0002g0081 a0000c0004t0002g0083 a0000c0004t0002g0107 a0000c0004t0002g0108 a0000c0004t0002g0114 a0000c0004t0002g0119 a0000c0004t0002g0131 a0000c0004t0002g0167 a0000c0004t0002g0203 a0000c0004t0004g0183 a0000c0004t0004g0186 a0000c0004t0004g0244 a0000c0004t0005g0111 a0000c0004t0005g0148 a0000c0004t0005g0152 a0000c0004t0018g0091 a0000c0005t0001g0035 a0000c0005t0001g0221 a0000c0005t0001g0228 a0000c0005t0001g0239 a0000c0005t0001g0252 a0000c0005t0003g0247 a0000c0005t0006g0071 a0000c0009t0004g0046	26	398	0.0653	1	c.630 others(4): Show c.630dupC	p.Gly others(5): Show p.Gly211fs	KLF16	ENSG00000129911.9	transcript	ENST00000250916.6	protein_coding	2/2	712/2901	630/759	210/252		chr19	TogoVar
KLHDC7B_chr22_50540899_50556023	50547934	CCCCAGCC others(64): Show CCCCAGCCGCATCCCCAGCCCTAACCCCAGTCCCAACCCCAGCCCTAAGC CCAGCTCCAACTCCAGCCCCAA	C C	frameshift_variant frameshift_variant	HIGH	NA18987.hp1 NA18987.hp1	a0039 a0039	a0039c0069 a0039c0069	a0039c0069t0001 a0039c0069t0001	a0039c0069t0001g0000 a0039c0069t0001g0000	1	432	0.0023	-71	c.169 others(80): Show c.1695_1765delAGCCGCATCCCCAGCCCTAACCCCAGTCCCAACCCC AGCCCTAAGCCCAGCTCCAACTCCAGCCCCAACCC	p.Ala others(5): Show p.Ala566fs	KLHDC7B	ENSG00000130487.9	transcript	ENST00000648057.3	protein_coding	1/1	2040/5125	1695/3708	565/1235	INFO_REALIGN_3_PRIME	chr22	TogoVar
KRT24_chr17_40692991_40708752	40701882	CA CA	C C	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00140.hp1 HG00323.hp1 others(201): Show HG00099.hp1 HG00140.hp1 HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG01069.hp2 HG01070.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01169.hp2 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01891.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp2 HG02622.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02896.hp1 HG02965.hp2 HG03225.hp1 HG03239.hp2 HG03471.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18747.hp1 NA18906.hp2 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18956.hp1 NA18957.hp1 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18965.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18985.hp2 NA18987.hp2 NA18988.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp2 NA18994.hp2 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19002.hp1 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp2 NA19043.hp2 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19058.hp2 NA19060.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19072.hp2 NA19074.hp1 NA19077.hp1 NA19078.hp1 NA19080.hp1 NA19081.hp1 NA19082.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0010 a0012 a0001 a0010 a0012	a0001c0001 a0001c0013 a0001c0014 others(3): Show a0001c0001 a0001c0013 a0001c0014 a0001c0015 a0010c0012 a0012c0016	a0001c0001t0001 a0001c0001t0002 a0001c0013t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0013t0001 a0001c0014t0002 a0001c0015t0001 a0010c0012t0001 a0012c0016t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0011 others(54): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0069 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0002g0001 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0016 a0001c0001t0002g0028 a0001c0001t0002g0040 a0001c0001t0002g0043 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0076 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0002g0089 a0001c0013t0001g0082 a0001c0014t0002g0086 a0001c0015t0001g0094 a0010c0012t0001g0156 a0010c0012t0001g0157 a0012c0016t0001g0149	204	424	0.4811	-1	c.666 others(4): Show c.666delT	p.Asn others(5): Show p.Asn222fs	KRT24	ENSG00000167916.5	transcript	ENST00000264651.3	protein_coding	2/8	725/1883	666/1578	222/525		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
KRTAP19-6_chr21_30536535_30546864	30541662	AG AG	A A	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(301): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01256.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18987.hp2 NA18991.hp1 NA18993.hp1 NA18994.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19005.hp2 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19079.hp2 NA19080.hp2 NA19082.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0000 a0000	a0000c0001 a0000c0003 a0000c0004 others(2): Show a0000c0001 a0000c0003 a0000c0004 a0000c0005 a0000c0006	a0000c0001t0001 a0000c0003t0001 a0000c0004t0001 others(2): Show a0000c0001t0001 a0000c0003t0001 a0000c0004t0001 a0000c0005t0001 a0000c0006t0001	a0000c0001t0001g0000 a0000c0003t0001g0000 a0000c0004t0001g0000 others(2): Show a0000c0001t0001g0000 a0000c0003t0001g0000 a0000c0004t0001g0000 a0000c0005t0001g0000 a0000c0006t0001g0000	304	394	0.7716	-1	c.171 others(4): Show c.171delC	p.Tyr others(4): Show p.Tyr58fs	KRTAP19-6	ENSG00000186925.6	transcript	ENST00000334046.5	protein_coding	1/1	202/330	171/177	57/58		chr21	TogoVar
KRTAP4-8_chr17_41091981_41103142	41098083	A A	AT AT	frameshift_variant others(1): Show frameshift_variant start_lost	HIGH	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(233): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18939.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18952.hp2 NA18955.hp2 NA18956.hp2 NA18957.hp1 NA18959.hp2 NA18960.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp2 NA18973.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp2 NA18987.hp2 NA18989.hp2 NA18993.hp2 NA18997.hp1 NA19000.hp1 NA19005.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp2 NA19057.hp2 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0007 others(5): Show a0001 a0003 a0007 a0008 a0009 a0011 a0013 a0014	a0001c0001 a0003c0003 a0003c0010 others(6): Show a0001c0001 a0003c0003 a0003c0010 a0007c0007 a0008c0009 a0009c0008 a0011c0011 a0013c0012 a0014c0013	a0001c0001t0001 a0001c0001t0005 a0001c0001t0012 others(12): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0012 a0003c0003t0001 a0003c0003t0003 a0003c0003t0006 a0003c0003t0008 a0003c0010t0003 a0007c0007t0001 a0008c0009t0003 a0009c0008t0008 a0009c0008t0011 a0011c0011t0001 a0013c0012t0001 a0014c0013t0001	a0001c0001t0001g0000 a0001c0001t0005g0000 a0001c0001t0012g0000 others(12): Show a0001c0001t0001g0000 a0001c0001t0005g0000 a0001c0001t0012g0000 a0003c0003t0001g0000 a0003c0003t0003g0000 a0003c0003t0006g0000 a0003c0003t0008g0000 a0003c0010t0003g0000 a0007c0007t0001g0000 a0008c0009t0003g0000 a0009c0008t0008g0000 a0009c0008t0011g0000 a0011c0011t0001g0000 a0013c0012t0001g0000 a0014c0013t0001g0000	236	416	0.5673	1	c.1du others(2): Show c.1dupA	p.Met others(3): Show p.Met1fs	KRTAP4-8	ENSG00000204880.9	transcript	ENST00000333822.5	protein_coding	1/1	59/1162	1/558	1/185		chr17	TogoVar
KRTAP9-6_chr17_41260378_41270860	41265463	TGACCACC others(5390): Show TGACCACCTGCAGCAGCACACCCTGCTGCCAGCCCTCCTGCTGTGTGTCC AGCTGCTGCCAGCCTTACTGCCACCCAACTTGCTGTCAAAACACCTGCTG CAGGACCACCTGCTGCCAGCCCACCTGTGTGACCAGCTGCTGCCAGCCTT CCTGCTGCAGCACACCCTGCTACCAGCCCATCTGCTGTGGGTCCAGCTGC TGTGGCCAAACCAGCTGTGGGTCCAGCTGTGGCCAGAGCAGCTCCTGTGC ACCTGTGTACTGCAGAAGAACCTGCTACCACCCCACGACTGTCTGCCTGC CTGGTTGCCTCAACCAGAGCTGTGGATCCAGCTGCTGCCAGCCCTGCTAC TGCCCAGCCTGCTGTGTGTCCAGCTGCTGCCAGCATTCTTGTTGCTGAGC AGCACCACAGAGGACCATCATCCTCACACAACAACCTTCTGCTCAACTGA CCTTTTTTTTCTTTTGAGACGGAGCCTCACTGTCACCCAGGCTGGAGTGC AGTAGCACGCTCTCGGCTCGCTGCAACCTCCATCTTCTGGGTTCAAGTGA TTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACATGCCTGTGCCACC ACGCCTGGCTAATTTTTTGTATTTTTAGTATTTTTAGTAGTTTTCACCAT GTTGATCAGACTTGTCTGGAACTCCTGCCCTCAGGTGATCCACCTGCCTC AGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCACACCCAGACCC AACTCACTTATCTTTCAGAAGACAGATTTACTTTCAAACTTTACTGATAC ACAGTATGCTTTCACCAATTTTTTTTATTTCTTTGCCTGTTTAAAATCTT GGGAATCAGCTTGAGGGAGGGCAGAATACTTCATCCTGATTCTTTTTTCC TTACACTTTGTGGATCATGTGCCAGCTTCATGTGTTCTCAATGTGGAGAC ATGGTCTCCATTCGACTCTAAAGTCAAGAGCTTCATTCTCTCCTTCTAAG AAACTTAGGTTTCTGCAACTGATCAATAATCTTTGCAATCATATTTTTGT TTTCAATTTTGTCCTCATGTTTCTTTTACCCTTCTTTCTTCTTTTCATTG TAACTTTGGGCTATGTCCCTAGTAGCAGGGATTCTTACCTATATATTTCT GAATAAATTCTGAACCATCCTTCATCTCATATGGTGTTTTATTTTACAGA ATTGCTGATATGAGATTTACACACATATTGCATGCTATATGTATTATCCA ATTTGATTCTGAAAACAGAGTTATTATTATGTATTATTACCTCAATTTTT CAGCTGAGAACAATTTAGTGTGTGATTTTATGTAGCTAATAAAGGACAGA CTCTAGTCCAAGGTGAGAGCTTCTCTTTCTGCCCAAGAACACTTACATTT AACTCTCGGTAAAGTAGAAATGATATTGAGACTCAGCAATAGCAAGACAT GCACTTGAGTTTATTTAATGTGGGAGGTATAATCTCTCATATTTGCAGAC GACATTTCTGTTCACAAAGGTCTTCCCAAATTAGTTTTCCACACCTCAGT GAGTAATAGCTACATGGGATGACAACAGGGACGGCATTTAATAGCTGCCC TGAGTGAGGATCCCTTTTTGTCTCAGTCTTTGACCAGCTATTTATTCAAT TAATCTGCATCAGAAAATTTTGAGAATGCATTGTGTCCTCATGAGAGAGG ATCTCATTTGGGGATTTTTTTCCTGGTATCACGTAAATAATATTCTTATA TGGCTTCCTTCTCCTGAATACCTGTTGACAAAGCAAAAAGAATTTAAGTT ATTCCTTCTAAAATATGGACCATACATTAAGCCACATTAAGTCAAATTGT CCCTCAAATCAAAATGTTATTAGGAAAATTAAGTGAAACAAATTTGGGGA TTGAGGGACTATGCAATGGGCATGTATGACTTTGTACAAACCATAAAGGT ATAAAACAACCTTCTGAGTTTTGTGAGGCAAATAGGAAGCATCTCAAGAA ACCAAAAACCTGTGTTTCCAGGGAAATCAGAAGAATTTAAGAAGGAGGAA ACGTGGAAGAACTTTCTCATTCATGGAAGTCATGATAGATGGAAAACTGG CGCTTTTGTTCCTGAACTGATGATGCAACTGAAGTATTCAGTCATGGAGG GATTCATTGATACTGGCCCTGAGAGAATTAGAAAAGTTAGGGACCTGGGC CACCTTCTTGGGACCTCCTACCGGCATGGGAGTGGTAGAAATACCTCTGA GGAGCTAACAATGTAGGTTTCCAGGACAGATACCAGCTTCTGAGGTGGTG TATCTAGAATGCTCAGAAGACTCAGCTAAGGGACAAAAGCCACTGACTGT GATAGTTGTTGCATAATGGGGTAAAGAAACTGAAGAACTATCACATTCTC TTTGACCAACATCGGTTATGCAAGATGAGTCAGTTCTGCAGATCTAGTGT ACAGCAACGTGACTATAGTTAACAAAAATGCTTTATTTTATACCTGAAAT GTGCTAAGAAGGTAGATCTGGAGTGTTGCTAAGAAGGTAGATCTGAAGTG TTTACACCACAAAAATAAAAAGGAAATGGTAACTATGTGAGCTAAGGAAT ATATGATAATTCACAATAAGTATATACATATCTCAAAACATCACCTCGTA CACATTAAATATACACAATTTTATTTTTATTTATCAATTATGCCTCAATA AAGCTAGTAAAGAAAGAAGTGAGTTGATCTGGTTAATTATTATTCATGTA TTCTTATCTTCAACATTAAAATTAGGAGTTCTCTGGACAAAAAAAAAACT AATATGTCCTAGGTTGCCTACTATTTAATGGGTATTGATTAAATGCTTTA TGAACATTATCATTAATTCTTGAAGAAACATTCAAAGTAGGTATTAATGT TCCCATTGTAGAGATGAGAAAATTGAGTCTGAGAGAGGAAATGTAATATC AGAGTTTGGTTTTCCCATAACAAACTCCAAGAAAAATATTCCAGTGAAAG TAGTTTATTGGAAAGTGCAGATCACACCAGCAGGTATTGGAGAAGTGACA CAGAAAAGGGTAGACTATTAAACTAGTATCACAGTGACCAATTAAAGCTT AAACCAAACAAAACACTATTAGAAATAATGAAAAACAAACAAATTAGAAT TATCCTACTTCAGGAATGAGGAAGCTAGAGTCTTCACAAACCAGTGCTCT GGAATCATTGGTTGAGTGTTTTTCTCTGTGTGGCACGCACAGGCGACATG ACTTTCTGCAGTAACAATACAAGAGCCCATAGGCACACAGATGCAGATTT GGGCAAATGCATATTGGTCTGAGCATACTAAGATCCAAGATATAGGAATG GGATAAGGAAATCCTATCTACAATCTACCATTTGCTCCACACAGACCCAA TCTTTGCTTCTTAAGTGTGGTGGGCAGCCACAAACTCTAGAAGAAGGAAG AGGAGGAGGAAAGGAAGAGGAGAAAGAGGAAAAACAGAAAATGAGAGGAA GAAGAAAGATGGAAAAATGAAAGAAAGAGAGAAGAAAGGAAGGAAGGAAA GAAGGGGGGAAGGAAGAAAGGAGGGAAGGAGAGAGGGAAGGAAGAAGGAA AGGAGGGATGGAAGGAAGAAAGGAAGGAGGAAAGAAAGAAAGAAAGAGAG AGAGAGAAGGAAGGCAGGAAGGAGAGAGAGAAAAAGAAGAAAGAGAAAGA AAGAAAGAAAAAGAAAAAGAAAGAAAGAAAGAGAAAGAGAGAGAGGGAGG GAGGGAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAGAAATTAAG AAGCAAAGAAAGGAGGGGGAGAGATATGTAAAATGAAGGCCAATGGAACA AGCAACAGTTACTGCTGCTATAATAGGGTGCACCTGACAGCCATAATCTC CATTAATTATCAAAAGTCTATAGTTCCTTCACCACTTTCCAGAACTTTTA CTACTCTAGATAATTTCCGGAAGGAGTAACCCAGATGTTCCTGCCCAAAG GGTCTGAGCCACTAGTTACTGTACCACTGTCCACTGTGATTGCTGTTTTC ACTCACTTGTGGTTATCTCTGGGCATGGACACAGTATGAGATTCTCCAGT GTTATGGGTTGAATGAGTCCCCCAAAATTCATATTGAAATGAGGTCATTG AAAACATAATTAGTTAAGATCAGGTCATATTGGAACAAGTTAGGCCCCTG ATTCAATAGGACTGATGCCTGTATAGAATGGGGAAGTTCAGACGCCATGT GCATCTAGAAGGAAGATCATGTAAGAGACATATGGAGAAGACAGGCATTT ACAAGTCAAGGAGAGACACCTGGAAGAGATGCTTTCCTAACAGTCCTCAG GTAAAAACAACCTTGTCAACACCTTAAATTCAGACTACTAGCCTTCAGAA CTGTGAGAAAATAAATTTCAGCCACTTGGTTTGTAGTGGTTTATCATGGC AGTGCTAGTAAATTAACATATTCAGTAAATCTCCTGAGCTACAGATACAT TCTCCTACATTCTACGCCTTCAGGATAATTACCCCTCACCAACTCTGTTC TCTGCCTTCTAATCTGCTGACATGAAGAGTGCAAAATGACTAGGCGGTAA TTATTACTTGCGATTATGCGAAAGAAATAGAGAAATAAATTTTGTAATTT TTATTCACACAGAAGTAAAAAAGGAAAAGCCAAATTGACCTACAGGGTTA CAACTTGATAGAGTGATTAGCGGTTTTGGGGGATGAGTAAGGAAATATAA CTGAAAGGGAATGGGATTAATTTCTATTTCCTAACCTGGTAATGGGAACA CAGATGTATTTACAGTTATATCAAGTTGGAAATTAATAATTTGCATTCTT CCAAAATGAATGGTATACCTAAAAAATGTTTAAATATGTTGGAACTCCAA GACAAATCAGGTATCATCTCAACTCATCTAATTCCTTCATTAAAAAGAAA TAGACAGAGAGAGAAGAAATGGCCCTGATTGTGTTAGTACCAGAGTTAGG GCTAGAGCTACAGCTCATGCAGGTTTGCCTGAATCTAAAGTAGTTATGTT ACAGAAAGTCCCACATTCTCATCCTGGTAAGTCCCTCACTCCCAGACAAA TCAAGATGAATGGTCACCCCAGGGCAAAGATTGCCTGATGTTATCTAAAT CACACTGGACTTCTCTTTGTACCCACCTGCTTTGGTTCTCTCTGACACAT AAAACACATTGTACCAATCACCCTCTTCCCAAGTGACTTTGATGGAGCTG AAAGACACAGGTGGTGTGGGTTGTACAGAGAGCAATGCCTGTTAGTCTTG AATCAGACTTTGGTGGCTGAACAATCTAGGCCACAGATATGAATTCATTT AGTCATTGTGAACACATCAGCATCACGCTTCCCGCAACAGACACTTCC	T T	frameshift_variant others(2): Show frameshift_variant stop_lost splice_region_variant	HIGH	NA18987.hp2 NA18987.hp2	a0000 a0000	a0000c0006 a0000c0006	a0000c0006t0000 a0000c0006t0000	a0000c0006t0000g0000 a0000c0006t0000g0000	1	248	0.0040	-5397	c.87_ others(8): Show c.87_*5000del	p.Val others(4): Show p.Val29fs	KRTAP9-6	ENSG00000212659.2	transcript	ENST00000391355.2	protein_coding	1/1	87/483	87/483	29/160		chr17	TogoVar
LCE2B_chr1_152681123_152692397	152686157	G G	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18957.hp1 NA18974.hp1 NA18987.hp2 others(1): Show NA18957.hp1 NA18974.hp1 NA18987.hp2 NA19063.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0011 a0001c0001 a0007c0011	a0001c0001t0001 a0007c0011t0001 a0001c0001t0001 a0007c0011t0001	a0001c0001t0001g0007 a0007c0011t0001g0007 a0001c0001t0001g0007 a0007c0011t0001g0007	4	446	0.0090	0	c.-21 others(5): Show c.-21+1G>C		LCE2B	ENSG00000159455.9	transcript	ENST00000368780.4	protein_coding	1/1					chr1	TogoVar
LGALS9B_chr17_20444395_20472539	20467469	A A	ATC ATC	frameshift_variant others(1): Show frameshift_variant start_lost	HIGH	HG00099.hp1 HG00323.hp2 HG00423.hp1 others(248): Show HG00099.hp1 HG00323.hp2 HG00423.hp1 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00733.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02074.hp1 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02145.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp2 NA18951.hp1 NA18953.hp1 NA18953.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18965.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp1 NA18987.hp1 NA18987.hp2 NA18989.hp1 NA18993.hp1 NA18995.hp1 NA18998.hp2 NA18999.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19070.hp2 NA19079.hp2 NA19081.hp2 NA19082.hp1 NA19083.hp2 NA19084.hp2 NA19086.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0004 others(11): Show a0001 a0002 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0012 a0016 a0017 a0019 a0021	a0001c0001 a0001c0025 a0001c0026 others(16): Show a0001c0001 a0001c0025 a0001c0026 a0001c0027 a0002c0007 a0002c0011 a0004c0014 a0005c0008 a0005c0021 a0006c0009 a0007c0010 a0008c0013 a0009c0016 a0010c0017 a0012c0023 a0016c0024 a0017c0028 a0019c0022 a0021c0020	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(46): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0025 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0025t0001 a0001c0026t0001 a0001c0027t0001 a0002c0007t0001 a0002c0007t0010 a0002c0007t0011 a0002c0011t0001 a0004c0014t0019 a0004c0014t0029 a0005c0008t0004 a0005c0008t0007 a0005c0021t0001 a0006c0009t0001 a0006c0009t0006 a0006c0009t0009 a0006c0009t0013 a0007c0010t0001 a0007c0010t0006 a0007c0010t0011 a0008c0013t0001 a0008c0013t0006 a0009c0016t0024 a0009c0016t0028 a0010c0017t0001 a0012c0023t0001 a0016c0024t0001 a0017c0028t0027 a0019c0022t0007 a0021c0020t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(161): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0139 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0006g0022 a0001c0001t0006g0140 a0001c0001t0006g0141 a0001c0001t0006g0156 a0001c0001t0006g0162 a0001c0001t0006g0174 a0001c0001t0006g0175 a0001c0001t0006g0176 a0001c0001t0006g0230 a0001c0001t0008g0013 a0001c0001t0008g0194 a0001c0001t0008g0195 a0001c0001t0008g0196 a0001c0001t0008g0217 a0001c0001t0009g0113 a0001c0001t0009g0117 a0001c0001t0010g0044 a0001c0001t0010g0226 a0001c0001t0010g0227 a0001c0001t0010g0228 a0001c0001t0010g0229 a0001c0001t0011g0054 a0001c0001t0011g0055 a0001c0001t0011g0056 a0001c0001t0012g0059 a0001c0001t0012g0060 a0001c0001t0013g0031 a0001c0001t0013g0109 a0001c0001t0014g0043 a0001c0001t0018g0110 a0001c0001t0018g0111 a0001c0001t0020g0032 a0001c0001t0021g0050 a0001c0001t0022g0058 a0001c0001t0025g0114 a0001c0001t0032g0192 a0001c0001t0033g0163 a0001c0001t0034g0169 a0001c0001t0035g0182 a0001c0001t0036g0149 a0001c0001t0037g0145 a0001c0025t0001g0165 a0001c0026t0001g0201 a0001c0027t0001g0219 a0002c0007t0001g0009 a0002c0007t0001g0035 a0002c0007t0001g0036 a0002c0007t0001g0126 a0002c0007t0001g0129 a0002c0007t0001g0130 a0002c0007t0001g0131 a0002c0007t0001g0132 a0002c0007t0001g0133 a0002c0007t0001g0135 a0002c0007t0010g0138 a0002c0007t0011g0053 a0002c0011t0001g0033 a0002c0011t0001g0034 a0004c0014t0019g0118 a0004c0014t0019g0121 a0004c0014t0029g0221 a0005c0008t0004g0076 a0005c0008t0007g0008 a0005c0008t0007g0030 a0005c0008t0007g0104 a0005c0008t0007g0105 a0005c0008t0007g0106 a0005c0008t0007g0107 a0005c0021t0001g0136 a0006c0009t0001g0142 a0006c0009t0001g0188 a0006c0009t0001g0210 a0006c0009t0001g0213 a0006c0009t0006g0225 a0006c0009t0009g0115 a0006c0009t0009g0116 a0006c0009t0013g0112 a0007c0010t0001g0153 a0007c0010t0006g0148 a0007c0010t0006g0167 a0007c0010t0006g0168 a0007c0010t0011g0057 a0008c0013t0001g0134 a0008c0013t0006g0127 a0008c0013t0006g0128 a0009c0016t0024g0108 a0009c0016t0028g0119 a0010c0017t0001g0042 a0012c0023t0001g0159 a0016c0024t0001g0170 a0017c0028t0027g0120 a0019c0022t0007g0103 a0021c0020t0001g0137	251	433	0.5797	2	c.-1_ others(6): Show c.-1_1dupGA	p.Met others(3): Show p.Met1fs	LGALS9B	ENSG00000170298.16	transcript	ENST00000423676.8	protein_coding	1/11	70/1718	1/1071	1/356		chr17	TogoVar
LIAT1_chr17_405325_419666	413611	CCCCGACC others(22): Show CCCCGACCCCGAGGCCCTCAAGGGCTTCCA	C C	frameshift_variant frameshift_variant	HIGH	NA18987.hp1 NA18987.hp1	a0034 a0034	a0034c0036 a0034c0036	a0034c0036t0001 a0034c0036t0001	a0034c0036t0001g0003 a0034c0036t0001g0003	1	434	0.0023	-29	c.772 others(36): Show c.772_800delGACCCCGAGGCCCTCAAGGGCTTCCACCC	p.Asp others(5): Show p.Asp258fs	LIAT1	ENSG00000187624.9	transcript	ENST00000360127.7	protein_coding	2/2	790/1841	772/1272	258/423	INFO_REALIGN_3_PRIME	chr17	TogoVar
LOC122455342_chr17_76563797_76574648	76569083	T T	TG TG	frameshift_variant frameshift_variant	HIGH	HG00423.hp1 HG00423.hp2 HG00741.hp1 others(18): Show HG00423.hp1 HG00423.hp2 HG00741.hp1 HG02055.hp1 HG02074.hp2 HG02080.hp1 HG02135.hp1 HG02135.hp2 HG02738.hp2 HG03130.hp2 HG03688.hp1 HG03831.hp1 HG03942.hp1 HG04204.hp2 NA18961.hp2 NA18964.hp1 NA18979.hp2 NA18985.hp2 NA18987.hp2 NA19000.hp1 NA19012.hp1	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0000 a0002c0004t0000 a0002c0003t0000 a0002c0004t0000	a0002c0003t0000g0000 a0002c0004t0000g0000 a0002c0003t0000g0000 a0002c0004t0000g0000	21	440	0.0477	1	c.565 others(4): Show c.565dupC	p.His others(5): Show p.His189fs	LOC122455342	ENSG00000284526.3	transcript	ENST00000713548.1	protein_coding	1/1	565/852	565/852	189/283		chr17	TogoVar
LPL_chr8_19934253_19972259	19962213	C C	G G	stop_gained stop_gained	HIGH	HG00323.hp1 HG01081.hp1 HG01358.hp1 others(31): Show HG00323.hp1 HG01081.hp1 HG01358.hp1 HG01891.hp2 HG02040.hp2 HG02071.hp2 HG02074.hp2 HG02083.hp2 HG02145.hp2 HG02735.hp1 HG02809.hp2 HG03098.hp2 HG03688.hp1 HG03710.hp2 HG03834.hp2 NA18941.hp2 NA18943.hp2 NA18948.hp2 NA18950.hp1 NA18953.hp1 NA18964.hp1 NA18967.hp1 NA18971.hp1 NA18975.hp2 NA18979.hp1 NA18987.hp1 NA18995.hp2 NA19001.hp2 NA19003.hp2 NA19005.hp1 NA19009.hp1 NA19063.hp2 NA19075.hp1 NA19085.hp2	a0002 a0009 a0002 a0009	a0002c0004 a0002c0007 a0002c0032 others(3): Show a0002c0004 a0002c0007 a0002c0032 a0002c0063 a0002c0064 a0009c0066	a0002c0004t0004 a0002c0004t0025 a0002c0007t0004 others(4): Show a0002c0004t0004 a0002c0004t0025 a0002c0007t0004 a0002c0032t0022 a0002c0063t0001 a0002c0064t0004 a0009c0066t0004	a0002c0004t0004g0005 a0002c0004t0004g0020 a0002c0004t0004g0022 others(22): Show a0002c0004t0004g0005 a0002c0004t0004g0020 a0002c0004t0004g0022 a0002c0004t0004g0051 a0002c0004t0004g0137 a0002c0004t0004g0148 a0002c0004t0004g0149 a0002c0004t0004g0245 a0002c0004t0004g0248 a0002c0004t0004g0262 a0002c0004t0004g0263 a0002c0004t0004g0268 a0002c0004t0025g0250 a0002c0007t0004g0061 a0002c0007t0004g0169 a0002c0007t0004g0183 a0002c0007t0004g0239 a0002c0007t0004g0253 a0002c0007t0004g0254 a0002c0007t0004g0256 a0002c0007t0004g0257 a0002c0032t0022g0054 a0002c0063t0001g0269 a0002c0064t0004g0170 a0009c0066t0004g0255	34	384	0.0885	0	c.142 others(4): Show c.1421C>G	p.Ser others(4): Show p.Ser474*	LPL	ENSG00000175445.17	transcript	ENST00000650287.1	protein_coding	9/10	1609/3565	1421/1428	474/475		chr8	TogoVar
LY9_chr1_160791174_160833255	160814452	G G	T T	stop_gained stop_gained	HIGH	NA18953.hp2 NA18987.hp1 NA18953.hp2 NA18987.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0010 a0006c0007t0001g0121 a0006c0007t0001g0010 a0006c0007t0001g0121	2	394	0.0051	0	c.763 others(3): Show c.763G>T	p.Glu others(4): Show p.Glu255*	LY9	ENSG00000122224.18	transcript	ENST00000263285.11	protein_coding	4/10	777/2421	763/1968	255/655		chr1	TogoVar
MAT2A_chr2_85534168_85550281	85542658	A A	ACCAGTCA others(10): Show ACCAGTCAACATTATTAT	frameshift_variant frameshift_variant	HIGH	NA18987.hp1 NA18987.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0020 a0002c0005t0001g0020	1	418	0.0024	17	c.865 others(24): Show c.865_866insGTCAACATTATTATCCA	p.Lys others(5): Show p.Lys289fs	MAT2A	ENSG00000168906.13	transcript	ENST00000306434.8	protein_coding	7/9	986/2817	866/1188	289/395	INFO_REALIGN_3_PRIME	chr2	TogoVar
MAT2A_chr2_85534168_85550281	85542748	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18987.hp1 NA18987.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0020 a0002c0005t0001g0020	1	418	0.0024	0	c.951 others(5): Show c.951+1G>A		MAT2A	ENSG00000168906.13	transcript	ENST00000306434.8	protein_coding	7/8					chr2	TogoVar
MAT2A_chr2_85534168_85550281	85542749	T T	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18987.hp1 NA18987.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0020 a0002c0005t0001g0020	1	418	0.0024	0	c.951 others(5): Show c.951+2T>C		MAT2A	ENSG00000168906.13	transcript	ENST00000306434.8	protein_coding	7/8					chr2	TogoVar
MGAT5_chr2_134249072_134459621	134338422	T T	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0070 a0001c0001t0070	a0001c0001t0070g0056 a0001c0001t0070g0056	1	282	0.0036	0	c.807 others(5): Show c.807+2T>A		MGAT5	ENSG00000152127.9	transcript	ENST00000281923.4	protein_coding	6/15					chr2	TogoVar
MICA_chr6_31398595_31420315	31412383	TG TG	T T	frameshift_variant frameshift_variant	HIGH	HG00408.hp1 HG00408.hp2 HG00423.hp2 others(100): Show HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00597.hp1 HG00733.hp1 HG01109.hp2 HG01168.hp1 HG01256.hp1 HG01258.hp2 HG01496.hp2 HG01515.hp2 HG01934.hp1 HG01952.hp2 HG01978.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02293.hp2 HG02523.hp2 HG02559.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG03017.hp1 HG03017.hp2 HG03490.hp2 HG03831.hp1 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp2 NA18612.hp1 NA18747.hp1 NA18939.hp1 NA18940.hp1 NA18941.hp1 NA18943.hp1 NA18944.hp2 NA18945.hp2 NA18949.hp1 NA18953.hp2 NA18956.hp1 NA18956.hp2 NA18960.hp2 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18966.hp2 NA18967.hp1 NA18970.hp1 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18978.hp1 NA18983.hp2 NA18987.hp1 NA18987.hp2 NA18989.hp2 NA18990.hp1 NA18991.hp2 NA18994.hp2 NA18995.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19007.hp2 NA19011.hp2 NA19057.hp2 NA19059.hp1 NA19060.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19068.hp2 NA19070.hp2 NA19072.hp1 NA19074.hp2 NA19075.hp1 NA19082.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA20905.hp2	a0000 a0000	a0000c0005 a0000c0006 a0000c0010 others(5): Show a0000c0005 a0000c0006 a0000c0010 a0000c0020 a0000c0021 a0000c0023 a0000c0024 a0000c0028	a0000c0005t0001 a0000c0006t0001 a0000c0010t0001 others(5): Show a0000c0005t0001 a0000c0006t0001 a0000c0010t0001 a0000c0020t0001 a0000c0021t0001 a0000c0023t0001 a0000c0024t0001 a0000c0028t0001	a0000c0005t0001g0005 a0000c0005t0001g0018 a0000c0005t0001g0021 others(28): Show a0000c0005t0001g0005 a0000c0005t0001g0018 a0000c0005t0001g0021 a0000c0005t0001g0028 a0000c0005t0001g0037 a0000c0005t0001g0050 a0000c0005t0001g0097 a0000c0005t0001g0098 a0000c0005t0001g0099 a0000c0005t0001g0100 a0000c0005t0001g0101 a0000c0005t0001g0103 a0000c0005t0001g0104 a0000c0006t0001g0002 a0000c0006t0001g0031 a0000c0006t0001g0032 a0000c0006t0001g0075 a0000c0006t0001g0076 a0000c0006t0001g0077 a0000c0010t0001g0025 a0000c0010t0001g0027 a0000c0010t0001g0049 a0000c0010t0001g0052 a0000c0010t0001g0071 a0000c0010t0001g0096 a0000c0010t0001g0102 a0000c0020t0001g0060 a0000c0021t0001g0027 a0000c0023t0001g0005 a0000c0024t0001g0018 a0000c0028t0001g0002	103	439	0.2346	-1	c.953 others(4): Show c.953delG	p.Gly others(5): Show p.Gly318fs	MICA	ENSG00000204520.14	transcript	ENST00000449934.7	protein_coding	5/6	991/1370	953/999	318/332	INFO_REALIGN_3_PRIME	chr6	TogoVar
MS4A12_chr11_60487778_60512430	60497529	C C	T T	stop_gained stop_gained	HIGH	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(178): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01257.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03491.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04184.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18950.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18956.hp2 NA18959.hp2 NA18962.hp2 NA18965.hp2 NA18967.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18972.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18986.hp1 NA18987.hp2 NA18990.hp1 NA18991.hp2 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA19000.hp2 NA19001.hp1 NA19007.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp2 NA19056.hp2 NA19064.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19075.hp1 NA19078.hp1 NA19079.hp2 NA19083.hp1 NA19085.hp2 NA19240.hp1 NA19240.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0004 a0002c0005 others(2): Show a0002c0002 a0002c0004 a0002c0005 a0002c0006 a0002c0007	a0002c0002t0001 a0002c0002t0002 a0002c0004t0001 others(3): Show a0002c0002t0001 a0002c0002t0002 a0002c0004t0001 a0002c0005t0002 a0002c0006t0001 a0002c0007t0002	a0002c0002t0001g0004 a0002c0002t0001g0008 a0002c0002t0001g0021 others(55): Show a0002c0002t0001g0004 a0002c0002t0001g0008 a0002c0002t0001g0021 a0002c0002t0001g0030 a0002c0002t0001g0033 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0067 a0002c0002t0001g0077 a0002c0002t0001g0079 a0002c0002t0001g0105 a0002c0002t0002g0002 a0002c0002t0002g0008 a0002c0002t0002g0009 a0002c0002t0002g0010 a0002c0002t0002g0011 a0002c0002t0002g0015 a0002c0002t0002g0016 a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0031 a0002c0002t0002g0036 a0002c0002t0002g0042 a0002c0002t0002g0043 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0061 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0076 a0002c0002t0002g0078 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0088 a0002c0002t0002g0090 a0002c0004t0001g0034 a0002c0004t0001g0035 a0002c0004t0001g0062 a0002c0004t0001g0075 a0002c0004t0001g0121 a0002c0005t0002g0031 a0002c0006t0001g0004 a0002c0007t0002g0009	181	432	0.4190	0	c.211 others(3): Show c.211C>T	p.Gln others(3): Show p.Gln71*	MS4A12	ENSG00000071203.9	transcript	ENST00000016913.8	protein_coding	2/7	268/1167	211/804	71/267		chr11	TogoVar
MT1G_chr16_56661730_56673065	56667382	T T	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00280.hp2 HG00408.hp1 HG00408.hp2 others(125): Show HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00733.hp1 HG01081.hp1 HG01099.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG02080.hp2 HG02083.hp1 HG02148.hp1 HG02155.hp2 HG02257.hp2 HG02293.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02622.hp1 HG02698.hp1 HG02717.hp2 HG02809.hp2 HG02922.hp1 HG03098.hp1 HG03209.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03579.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp2 HG04228.hp1 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18940.hp2 NA18943.hp1 NA18944.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18972.hp2 NA18974.hp1 NA18975.hp2 NA18982.hp1 NA18984.hp1 NA18986.hp2 NA18987.hp2 NA18988.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA19000.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19007.hp1 NA19012.hp1 NA19012.hp2 NA19054.hp2 NA19055.hp2 NA19056.hp1 NA19057.hp1 NA19060.hp1 NA19064.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19078.hp2 NA19082.hp2 NA19085.hp1 NA19086.hp2 NA19087.hp1 NA19089.hp1 NA19089.hp2 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0002g0002 others(4): Show a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0003g0004 a0001c0001t0003g0014 a0001c0001t0005g0007	128	470	0.2723	0	c.29- others(4): Show c.29-2A>T		MT1G	ENSG00000125144.14	transcript	ENST00000379811.4	protein_coding	1/2					chr16	TogoVar
NANOS1_chr10_119024714_119038730	119029847	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG00621.hp2 HG01081.hp2 HG01099.hp1 others(25): Show HG00621.hp2 HG01081.hp2 HG01099.hp1 HG01175.hp2 HG01261.hp1 HG01361.hp2 HG01433.hp2 HG02015.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02135.hp1 HG02135.hp2 HG02258.hp1 HG02293.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG03669.hp2 HG03942.hp2 HG04115.hp1 NA18980.hp2 NA18987.hp2 NA18991.hp2 NA19006.hp2 NA19055.hp2 NA19060.hp1 NA19072.hp1	a0000 a0000	a0000c0002 a0000c0007 a0000c0002 a0000c0007	a0000c0002t0001 a0000c0002t0002 a0000c0002t0004 others(3): Show a0000c0002t0001 a0000c0002t0002 a0000c0002t0004 a0000c0002t0016 a0000c0002t0021 a0000c0007t0001	a0000c0002t0001g0000 a0000c0002t0002g0000 a0000c0002t0004g0000 others(3): Show a0000c0002t0001g0000 a0000c0002t0002g0000 a0000c0002t0004g0000 a0000c0002t0016g0000 a0000c0002t0021g0000 a0000c0007t0001g0000	28	404	0.0693	1	c.53d others(3): Show c.53dupC	p.Pro others(4): Show p.Pro19fs	NANOS1	ENSG00000188613.7	transcript	ENST00000425699.3	protein_coding	1/1	142/4017	54/879	18/292	INFO_REALIGN_3_PRIME	chr10	TogoVar

Search by Variant

Search

Search Results (Total: 199 hits)