Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
AHCTF1_chr1_246834098_246936948	246918384	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01074.hp2 HG02886.hp1 HG01074.hp2 HG02886.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0184 a0003c0003t0001g0240 a0003c0003t0001g0184 a0003c0003t0001g0240	2	376	0.0053	0	c.-7- others(4): Show c.-7-7T>C		AHCTF1	ENSG00000153207.16	transcript	ENST00000648844.2	protein_coding	1/35					chr1	TogoVar
AHCYL1_chr1_109979765_110028742	110021670	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02055.hp2 HG03195.hp1 HG03471.hp2 others(3): Show HG02055.hp2 HG03195.hp1 HG03471.hp2 HG03579.hp2 HG06807.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 others(3): Show a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0202 a0001c0001t0015g0185	6	350	0.0171	0	c.158 others(6): Show c.1587-4A>T		AHCYL1	ENSG00000168710.18	transcript	ENST00000369799.10	protein_coding	16/16					chr1	TogoVar
AHCYL2_chr7_129220030_129435211	129405828	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0260 a0001c0002t0002g0260	1	292	0.0034	0	c.114 others(6): Show c.1143-8T>C		AHCYL2	ENSG00000158467.17	transcript	ENST00000325006.8	protein_coding	8/16					chr7	TogoVar
AHCY_chr20_34275268_34308355	34285641	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00738.hp2 HG01169.hp1 HG01243.hp1 others(26): Show HG00738.hp2 HG01169.hp1 HG01243.hp1 HG01261.hp1 HG01884.hp1 HG02109.hp1 HG02145.hp1 HG02280.hp1 HG02486.hp1 HG02630.hp1 HG02647.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03453.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 NA18906.hp1 NA19030.hp1 NA19043.hp1 NA19240.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0009 a0001c0001t0002 a0001c0001t0007 a0001c0001t0009	a0001c0001t0002g0004 a0001c0001t0002g0021 a0001c0001t0002g0037 others(14): Show a0001c0001t0002g0004 a0001c0001t0002g0021 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0165 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0007g0175 a0001c0001t0009g0183	29	300	0.0967	0	c.973 others(5): Show c.973-7C>T		AHCY	ENSG00000101444.13	transcript	ENST00000217426.7	protein_coding	8/9					chr20	TogoVar
AHDC1_chr1_27529245_27609144	27603723	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	180	0.0056	0	c.-72 others(6): Show c.-727+5G>C		AHDC1	ENSG00000126705.15	transcript	ENST00000673934.1	protein_coding	2/8					chr1	TogoVar
AHI1_chr6_135278532_135502740	135358133	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA19240.hp2 NA19240.hp2	a0008 a0008	a0008c0019 a0008c0019	a0008c0019t0003 a0008c0019t0003	a0008c0019t0003g0211 a0008c0019t0003g0211	1	220	0.0046	0	c.316 others(4): Show c.3164C>T	p.Thr others(7): Show p.Thr1055Met	AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	24/29	3523/6063	3164/3591	1055/1196		chr6	TogoVar
AHI1_chr6_135278532_135502740	135411340	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	220	0.0046	0	c.296 others(6): Show c.2961+8T>A		AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	21/28					chr6	TogoVar
AHI1_chr6_135278532_135502740	135411341	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	220	0.0046	0	c.296 others(6): Show c.2961+7T>G		AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	21/28					chr6	TogoVar
AHI1_chr6_135278532_135502740	135427313	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01169.hp1 HG03017.hp1 NA20129.hp2 HG01169.hp1 HG03017.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087	3	220	0.0136	0	c.262 others(6): Show c.2624-6A>G		AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	19/28					chr6	TogoVar
AHI1_chr6_135278532_135502740	135429884	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0010 a0001c0015t0010	a0001c0015t0010g0104 a0001c0015t0010g0104	1	220	0.0046	0	c.249 others(4): Show c.2490G>A	p.Arg others(6): Show p.Arg830Arg	AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	18/29	2849/6063	2490/3591	830/1196		chr6	TogoVar
AHSA1_chr14_77453093_77474472	77465674	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00323.hp2 HG00544.hp1 HG00544.hp2 others(130): Show HG00323.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01361.hp1 HG01361.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02273.hp2 HG02293.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02683.hp1 HG02683.hp2 HG02738.hp2 HG02895.hp2 HG02897.hp1 HG03239.hp1 HG03239.hp2 HG03491.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03831.hp2 HG03834.hp2 HG04115.hp2 HG04204.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18967.hp1 NA18969.hp1 NA18971.hp1 NA18971.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18990.hp2 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19066.hp1 NA19066.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19088.hp1 NA19088.hp2 NA20129.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0009 a0001c0001 a0001c0008 a0001c0009	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0008t0001 a0001c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(45): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0024 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0004g0064 a0001c0001t0005g0001 a0001c0008t0001g0090 a0001c0009t0001g0081	133	308	0.4318	0	c.690 others(5): Show c.690+7A>C		AHSA1	ENSG00000100591.8	transcript	ENST00000216479.8	protein_coding	6/8					chr14	TogoVar
AHSA1_chr14_77453093_77474472	77468051	C C	CT CT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00323.hp1 HG00642.hp2 others(58): Show HG00099.hp1 HG00323.hp1 HG00642.hp2 HG00735.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01109.hp1 HG01168.hp2 HG01175.hp2 HG01256.hp2 HG01258.hp2 HG01358.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp2 HG02074.hp2 HG02148.hp1 HG02155.hp2 HG02258.hp1 HG02293.hp1 HG02486.hp1 HG02572.hp2 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03139.hp1 HG03195.hp2 HG03486.hp1 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG03704.hp1 HG03831.hp1 HG03834.hp1 HG03942.hp1 HG04115.hp1 HG04199.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18944.hp2 NA18975.hp1 NA18986.hp2 NA18991.hp1 NA19240.hp2 NA20805.hp1 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0005 others(1): Show a0001c0002 a0001c0003 a0001c0005 a0001c0006	a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 others(3): Show a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0003 a0001c0005t0001 a0001c0006t0001	a0001c0002t0001g0021 a0001c0002t0001g0039 a0001c0002t0001g0082 others(38): Show a0001c0002t0001g0021 a0001c0002t0001g0039 a0001c0002t0001g0082 a0001c0002t0001g0094 a0001c0002t0001g0102 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0144 a0001c0002t0002g0011 a0001c0002t0002g0019 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0103 a0001c0002t0002g0105 a0001c0002t0002g0107 a0001c0002t0002g0109 a0001c0002t0002g0112 a0001c0002t0002g0113 a0001c0002t0002g0115 a0001c0002t0002g0116 a0001c0002t0002g0117 a0001c0002t0002g0118 a0001c0002t0002g0119 a0001c0002t0002g0122 a0001c0002t0002g0124 a0001c0002t0002g0145 a0001c0003t0001g0009 a0001c0003t0001g0030 a0001c0003t0001g0043 a0001c0003t0001g0044 a0001c0003t0001g0046 a0001c0003t0001g0130 a0001c0003t0001g0136 a0001c0003t0001g0137 a0001c0003t0001g0138 a0001c0003t0003g0006 a0001c0003t0003g0126 a0001c0003t0003g0129 a0001c0005t0001g0086 a0001c0005t0001g0097 a0001c0006t0001g0023	61	308	0.1981	1	c.691 others(6): Show c.691-9dupT		AHSA1	ENSG00000100591.8	transcript	ENST00000216479.8	protein_coding	6/8				INFO_REALIGN_3_PRIME	chr14	TogoVar
AHSA1_chr14_77453093_77474472	77468051	C C	CTT CTT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01099.hp2 HG01109.hp2 HG01891.hp1 others(5): Show HG01099.hp2 HG01109.hp2 HG01891.hp1 HG02145.hp1 HG02738.hp1 HG02818.hp1 HG03491.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0001 a0001c0003t0003 a0001c0002t0002 a0001c0003t0001 a0001c0003t0003	a0001c0002t0002g0106 a0001c0002t0002g0114 a0001c0002t0002g0120 others(5): Show a0001c0002t0002g0106 a0001c0002t0002g0114 a0001c0002t0002g0120 a0001c0003t0001g0045 a0001c0003t0001g0125 a0001c0003t0001g0128 a0001c0003t0001g0131 a0001c0003t0003g0127	8	308	0.0260	2	c.691 others(14): Show c.691-10_691-9dupTT		AHSA1	ENSG00000100591.8	transcript	ENST00000216479.8	protein_coding	6/8				INFO_REALIGN_3_PRIME	chr14	TogoVar
AICDA_chr12_8597170_8617859	8604926	C C	CA CA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(389): 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.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 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.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.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 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.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 NA18949.hp1 NA18949.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 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19054.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 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0005 a0006 a0007 a0008	a0001c0001 a0001c0002 a0001c0005 others(11): Show a0001c0001 a0001c0002 a0001c0005 a0001c0009 a0001c0012 a0001c0013 a0001c0014 a0002c0003 a0002c0004 a0004c0007 a0005c0015 a0006c0008 a0007c0010 a0008c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(39): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0022 a0001c0001t0025 a0001c0001t0027 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 a0001c0002t0008 a0001c0002t0011 a0001c0002t0013 a0001c0002t0020 a0001c0002t0021 a0001c0005t0002 a0001c0009t0019 a0001c0012t0001 a0001c0013t0005 a0001c0014t0004 a0002c0003t0001 a0002c0003t0002 a0002c0003t0023 a0002c0004t0001 a0002c0004t0008 a0004c0007t0001 a0005c0015t0001 a0006c0008t0004 a0007c0010t0003 a0008c0011t0003	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0008 others(229): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0024 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0040 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0072 a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0091 a0001c0001t0001g0097 a0001c0001t0001g0104 a0001c0001t0001g0112 a0001c0001t0001g0116 a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0001t0001g0134 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0199 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0221 a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0001g0232 a0001c0001t0001g0236 a0001c0001t0001g0239 a0001c0001t0001g0249 a0001c0001t0001g0266 a0001c0001t0001g0276 a0001c0001t0001g0287 a0001c0001t0001g0293 a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0020 a0001c0001t0002g0046 a0001c0001t0002g0096 a0001c0001t0002g0167 a0001c0001t0002g0185 a0001c0001t0002g0195 a0001c0001t0002g0220 a0001c0001t0002g0228 a0001c0001t0002g0235 a0001c0001t0002g0248 a0001c0001t0002g0250 a0001c0001t0002g0260 a0001c0001t0002g0267 a0001c0001t0002g0275 a0001c0001t0002g0282 a0001c0001t0003g0026 a0001c0001t0003g0071 a0001c0001t0003g0073 a0001c0001t0003g0103 a0001c0001t0003g0111 a0001c0001t0003g0151 a0001c0001t0003g0226 a0001c0001t0003g0272 a0001c0001t0004g0150 a0001c0001t0005g0038 a0001c0001t0005g0223 a0001c0001t0005g0261 a0001c0001t0006g0025 a0001c0001t0006g0128 a0001c0001t0006g0149 a0001c0001t0006g0259 a0001c0001t0006g0273 a0001c0001t0007g0133 a0001c0001t0007g0166 a0001c0001t0007g0240 a0001c0001t0009g0031 a0001c0001t0009g0039 a0001c0001t0009g0070 a0001c0001t0009g0168 a0001c0001t0009g0283 a0001c0001t0010g0130 a0001c0001t0010g0237 a0001c0001t0012g0027 a0001c0001t0012g0074 a0001c0001t0012g0291 a0001c0001t0014g0121 a0001c0001t0014g0122 a0001c0001t0015g0138 a0001c0001t0016g0132 a0001c0001t0022g0208 a0001c0001t0025g0092 a0001c0001t0027g0292 a0001c0002t0001g0002 a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0016 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0028 a0001c0002t0001g0030 a0001c0002t0001g0033 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0044 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0080 a0001c0002t0001g0084 a0001c0002t0001g0087 a0001c0002t0001g0093 a0001c0002t0001g0098 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0105 a0001c0002t0001g0107 a0001c0002t0001g0113 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0123 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0143 a0001c0002t0001g0152 a0001c0002t0001g0154 a0001c0002t0001g0172 a0001c0002t0001g0174 a0001c0002t0001g0179 a0001c0002t0001g0182 a0001c0002t0001g0188 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0200 a0001c0002t0001g0201 a0001c0002t0001g0209 a0001c0002t0001g0213 a0001c0002t0001g0222 a0001c0002t0001g0225 a0001c0002t0001g0230 a0001c0002t0001g0234 a0001c0002t0001g0241 a0001c0002t0001g0246 a0001c0002t0001g0247 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0268 a0001c0002t0001g0269 a0001c0002t0001g0277 a0001c0002t0001g0278 a0001c0002t0001g0280 a0001c0002t0001g0284 a0001c0002t0002g0050 a0001c0002t0002g0054 a0001c0002t0002g0106 a0001c0002t0002g0186 a0001c0002t0002g0189 a0001c0002t0002g0190 a0001c0002t0002g0196 a0001c0002t0002g0231 a0001c0002t0002g0245 a0001c0002t0002g0252 a0001c0002t0002g0253 a0001c0002t0002g0264 a0001c0002t0003g0215 a0001c0002t0004g0011 a0001c0002t0004g0286 a0001c0002t0005g0153 a0001c0002t0005g0171 a0001c0002t0005g0175 a0001c0002t0005g0251 a0001c0002t0005g0281 a0001c0002t0007g0029 a0001c0002t0007g0099 a0001c0002t0007g0173 a0001c0002t0007g0233 a0001c0002t0008g0018 a0001c0002t0008g0289 a0001c0002t0011g0262 a0001c0002t0013g0229 a0001c0002t0020g0263 a0001c0002t0021g0170 a0001c0005t0002g0244 a0001c0005t0002g0279 a0001c0009t0019g0271 a0001c0012t0001g0119 a0001c0013t0005g0075 a0001c0014t0004g0129 a0002c0003t0001g0036 a0002c0003t0001g0045 a0002c0003t0001g0085 a0002c0003t0001g0089 a0002c0003t0001g0158 a0002c0003t0001g0177 a0002c0003t0001g0238 a0002c0003t0001g0256 a0002c0003t0002g0183 a0002c0003t0002g0202 a0002c0003t0023g0288 a0002c0004t0001g0094 a0002c0004t0001g0102 a0002c0004t0001g0131 a0002c0004t0001g0159 a0002c0004t0001g0198 a0002c0004t0001g0203 a0002c0004t0008g0127 a0002c0004t0008g0145 a0004c0007t0001g0155 a0005c0015t0001g0211 a0006c0008t0004g0142 a0007c0010t0003g0144 a0008c0011t0003g0146	392	458	0.8559	1	c.428 others(6): Show c.428-5dupT		AICDA	ENSG00000111732.12	transcript	ENST00000229335.11	protein_coding	3/4					chr12	TogoVar
AICDA_chr12_8597170_8617859	8604926	C C	CAA CAA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01168.hp2 HG01978.hp1 HG01978.hp2 others(8): Show HG01168.hp2 HG01978.hp1 HG01978.hp2 HG02055.hp1 HG02293.hp1 HG02630.hp2 HG02886.hp1 HG03209.hp2 HG03831.hp2 NA19077.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0028 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0028 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005	a0001c0001t0001g0181 a0001c0001t0028g0125 a0001c0002t0001g0176 others(7): Show a0001c0001t0001g0181 a0001c0001t0028g0125 a0001c0002t0001g0176 a0001c0002t0001g0210 a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0001g0265 a0001c0002t0004g0043 a0001c0002t0004g0204 a0001c0002t0005g0205	11	458	0.0240	2	c.428 others(13): Show c.428-6_428-5dupTT		AICDA	ENSG00000111732.12	transcript	ENST00000229335.11	protein_coding	3/4					chr12	TogoVar
AICDA_chr12_8597170_8617859	8605211	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02055.hp2 HG02615.hp2 HG02055.hp2 HG02615.hp2	a0007 a0008 a0007 a0008	a0007c0010 a0008c0011 a0007c0010 a0008c0011	a0007c0010t0003 a0008c0011t0003 a0007c0010t0003 a0008c0011t0003	a0007c0010t0003g0144 a0008c0011t0003g0146 a0007c0010t0003g0144 a0008c0011t0003g0146	2	458	0.0044	0	c.427 others(5): Show c.427+4C>T		AICDA	ENSG00000111732.12	transcript	ENST00000229335.11	protein_coding	3/4					chr12	TogoVar
AIF1L_chr9_131091531_131128144	131117748	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0133 a0001c0001t0002g0133	1	424	0.0024	0	c.203 others(5): Show c.203-8C>G		AIF1L	ENSG00000126878.13	transcript	ENST00000247291.8	protein_coding	4/5					chr9	TogoVar
AIFM3_chr22_20962255_20986358	20973300	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00323.hp2 HG00423.hp1 others(137): Show HG00140.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG01070.hp2 HG01081.hp2 HG01123.hp1 HG01192.hp2 HG01257.hp1 HG01258.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp2 HG02074.hp1 HG02129.hp1 HG02155.hp2 HG02258.hp1 HG02293.hp1 HG02300.hp1 HG02572.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03225.hp1 HG03471.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03927.hp1 HG04115.hp2 HG04184.hp2 NA18612.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18947.hp2 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18969.hp1 NA18971.hp1 NA18974.hp1 NA18977.hp2 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18987.hp1 NA18988.hp2 NA18989.hp2 NA18990.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp2 NA18998.hp2 NA18999.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19011.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA19090.hp2 NA20752.hp2	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0005 a0006 a0008 a0010 a0013	a0001c0001 a0001c0002 a0001c0012 others(9): Show a0001c0001 a0001c0002 a0001c0012 a0001c0019 a0001c0025 a0002c0003 a0004c0008 a0005c0009 a0006c0010 a0008c0023 a0010c0017 a0013c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 a0001c0002t0001 a0001c0002t0004 a0001c0012t0006 a0001c0019t0001 a0001c0025t0001 a0002c0003t0003 a0004c0008t0003 a0005c0009t0001 a0005c0009t0002 a0006c0010t0001 a0008c0023t0001 a0010c0017t0003 a0013c0013t0001	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0008 others(63): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0058 a0001c0001t0001g0081 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0133 a0001c0001t0001g0162 a0001c0001t0001g0200 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0238 a0001c0001t0001g0258 a0001c0001t0001g0269 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0289 a0001c0001t0002g0009 a0001c0001t0002g0011 a0001c0001t0002g0017 a0001c0001t0002g0083 a0001c0001t0002g0211 a0001c0001t0003g0257 a0001c0001t0005g0049 a0001c0001t0010g0001 a0001c0002t0001g0001 a0001c0002t0001g0010 a0001c0002t0001g0026 a0001c0002t0001g0270 a0001c0002t0004g0207 a0001c0012t0006g0275 a0001c0019t0001g0001 a0001c0025t0001g0010 a0002c0003t0003g0021 a0004c0008t0003g0021 a0005c0009t0001g0007 a0005c0009t0002g0011 a0006c0010t0001g0007 a0008c0023t0001g0108 a0010c0017t0003g0089 a0013c0013t0001g0068	140	456	0.3070	0	c.32- others(4): Show c.32-7C>T		AIFM3	ENSG00000183773.16	transcript	ENST00000440238.4	protein_coding	2/20					chr22	TogoVar
AIG1_chr6_143055889_143346058	143165074	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01257.hp2 HG04199.hp1 HG01257.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0149 a0001c0001t0002g0150 a0001c0001t0001g0149 a0001c0001t0002g0150	2	204	0.0098	0	c.298 others(5): Show c.298-8C>T		AIG1	ENSG00000146416.19	transcript	ENST00000357847.9	protein_coding	2/5					chr6	TogoVar
AIM2_chr1_159057484_159081766	159068562	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03225.hp2 HG03453.hp2 HG03225.hp2 HG03453.hp2	a0000 a0000	a0000c0005 a0000c0005	a0000c0005t0001 a0000c0005t0001	a0000c0005t0001g0146 a0000c0005t0001g0148 a0000c0005t0001g0146 a0000c0005t0001g0148	2	394	0.0051	0	c.396 others(5): Show c.396+6A>T		AIM2	ENSG00000163568.16	transcript	ENST00000368130.9	protein_coding	3/5					chr1	TogoVar
AIMP1_chr4_106311550_106354456	106324979	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00558.hp2 HG00735.hp1 HG00738.hp2 others(100): Show HG00558.hp2 HG00735.hp1 HG00738.hp2 HG01069.hp2 HG01106.hp1 HG01192.hp2 HG01256.hp1 HG01346.hp1 HG01358.hp2 HG01496.hp2 HG01884.hp1 HG01952.hp2 HG01993.hp2 HG02015.hp2 HG02074.hp1 HG02083.hp1 HG02109.hp1 HG02135.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02647.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03688.hp2 HG03710.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04204.hp1 NA18612.hp2 NA18906.hp1 NA18940.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18952.hp1 NA18953.hp1 NA18954.hp1 NA18955.hp1 NA18957.hp2 NA18960.hp2 NA18963.hp1 NA18965.hp2 NA18969.hp2 NA18970.hp2 NA18973.hp1 NA18974.hp2 NA18975.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18985.hp1 NA18989.hp1 NA18990.hp1 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18994.hp2 NA18995.hp1 NA19002.hp2 NA19006.hp1 NA19007.hp1 NA19030.hp2 NA19054.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp2 NA19076.hp1 NA19080.hp2 NA19082.hp2 NA19087.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0006t0001	a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0180 others(62): Show a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0003g0001 a0001c0001t0003g0005 a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0086 a0001c0001t0006g0023 a0001c0001t0006g0177 a0001c0001t0006g0178 a0001c0001t0006g0179 a0001c0001t0008g0087 a0001c0001t0008g0170 a0001c0001t0008g0171 a0001c0001t0008g0172 a0001c0001t0008g0173 a0001c0001t0009g0001 a0001c0001t0009g0061 a0001c0006t0001g0041 a0001c0006t0001g0182	103	384	0.2682	0	c.-25 others(5): Show c.-25-6C>A		AIMP1	ENSG00000164022.18	transcript	ENST00000672341.1	protein_coding	1/6					chr4	TogoVar
AIMP2_chr7_6004272_6028834	6015356	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00423.hp2 HG00621.hp1 others(91): Show HG00099.hp1 HG00423.hp2 HG00621.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01884.hp2 HG01891.hp2 HG02027.hp1 HG02055.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02257.hp1 HG02300.hp1 HG02523.hp1 HG02572.hp1 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03942.hp2 HG04115.hp2 HG04199.hp1 HG04228.hp1 NA18522.hp2 NA18906.hp1 NA18944.hp2 NA18947.hp2 NA18948.hp1 NA18954.hp1 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18969.hp2 NA18970.hp2 NA18975.hp2 NA18981.hp2 NA18983.hp2 NA18984.hp1 NA18986.hp2 NA18997.hp2 NA19001.hp2 NA19003.hp2 NA19004.hp2 NA19005.hp2 NA19010.hp2 NA19012.hp2 NA19030.hp1 NA19056.hp1 NA19057.hp1 NA19060.hp2 NA19065.hp1 NA19068.hp2 NA19070.hp2 NA19081.hp2 NA20752.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0008 others(1): Show a0001c0001 a0001c0002 a0001c0008 a0004c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 a0001c0008t0002 a0004c0009t0002	a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0002g0007 others(78): Show a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0002g0007 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0053 a0001c0001t0002g0280 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0002g0331 a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0002g0334 a0001c0001t0002g0336 a0001c0001t0002g0337 a0001c0001t0002g0339 a0001c0001t0002g0340 a0001c0001t0002g0341 a0001c0001t0002g0342 a0001c0001t0002g0343 a0001c0001t0002g0344 a0001c0001t0002g0345 a0001c0001t0002g0346 a0001c0001t0002g0347 a0001c0001t0002g0348 a0001c0001t0002g0349 a0001c0001t0002g0350 a0001c0001t0002g0351 a0001c0001t0002g0352 a0001c0001t0002g0353 a0001c0001t0002g0354 a0001c0001t0002g0355 a0001c0001t0002g0356 a0001c0001t0002g0357 a0001c0001t0002g0358 a0001c0001t0002g0359 a0001c0001t0005g0311 a0001c0002t0001g0090 a0001c0002t0001g0100 a0001c0002t0001g0129 a0001c0002t0002g0052 a0001c0008t0002g0338 a0004c0009t0002g0335	94	442	0.2127	0	c.342 others(5): Show c.342+4G>A		AIMP2	ENSG00000106305.10	transcript	ENST00000223029.8	protein_coding	2/3					chr7	TogoVar
AIMP2_chr7_6004272_6028834	6023833	T T	G G	splice_region_variant splice_region_variant	LOW	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0043 a0001c0002t0008g0043	1	442	0.0023	0	c.14 others(4): Show c.142T>G		AIMP2	ENSG00000106305.10	transcript	ENST00000223029.8	protein_coding	4/4					chr7	TogoVar
AIRE_chr21_44280876_44303648	44288340	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	426	0.0024	0	c.539 others(5): Show c.539-5C>T		AIRE	ENSG00000160224.17	transcript	ENST00000291582.6	protein_coding	4/13					chr21	TogoVar
AIRE_chr21_44280876_44303648	44292407	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00408.hp2 HG00423.hp1 HG00423.hp2 others(78): Show HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp2 HG00558.hp2 HG00609.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG01069.hp2 HG01071.hp2 HG01099.hp1 HG01261.hp2 HG01361.hp1 HG02040.hp2 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02165.hp2 HG02258.hp1 HG02280.hp2 HG02622.hp2 HG02698.hp2 HG03139.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG04228.hp1 NA18612.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18944.hp2 NA18945.hp2 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18956.hp2 NA18960.hp1 NA18962.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18991.hp1 NA18995.hp1 NA18995.hp2 NA18997.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19009.hp1 NA19011.hp2 NA19056.hp1 NA19058.hp1 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19079.hp1 NA19081.hp1 NA19084.hp2 NA19091.hp2 NA20905.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0002c0007 others(11): Show a0001c0001 a0002c0002 a0002c0007 a0002c0008 a0002c0011 a0002c0015 a0002c0017 a0002c0021 a0002c0023 a0002c0026 a0002c0032 a0002c0044 a0002c0050 a0005c0033	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(14): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0002c0007t0001 a0002c0007t0002 a0002c0008t0001 a0002c0008t0002 a0002c0011t0001 a0002c0015t0001 a0002c0017t0001 a0002c0021t0005 a0002c0023t0001 a0002c0026t0001 a0002c0032t0001 a0002c0044t0001 a0002c0050t0001 a0005c0033t0001	a0001c0001t0001g0018 a0001c0001t0001g0110 a0001c0001t0001g0151 others(44): Show a0001c0001t0001g0018 a0001c0001t0001g0110 a0001c0001t0001g0151 a0002c0002t0001g0002 a0002c0002t0001g0008 a0002c0002t0001g0011 a0002c0002t0001g0027 a0002c0002t0001g0057 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0202 a0002c0002t0001g0203 a0002c0002t0001g0204 a0002c0002t0001g0206 a0002c0002t0001g0207 a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0224 a0002c0002t0001g0238 a0002c0002t0001g0239 a0002c0002t0002g0058 a0002c0007t0001g0132 a0002c0007t0002g0033 a0002c0007t0002g0086 a0002c0008t0001g0002 a0002c0008t0001g0012 a0002c0008t0001g0035 a0002c0008t0001g0036 a0002c0008t0001g0097 a0002c0008t0001g0131 a0002c0008t0001g0134 a0002c0008t0001g0135 a0002c0008t0002g0133 a0002c0011t0001g0026 a0002c0011t0001g0056 a0002c0011t0001g0201 a0002c0011t0001g0205 a0002c0011t0001g0214 a0002c0015t0001g0011 a0002c0017t0001g0027 a0002c0021t0005g0084 a0002c0023t0001g0027 a0002c0026t0001g0213 a0002c0032t0001g0002 a0002c0044t0001g0087 a0002c0050t0001g0085 a0005c0033t0001g0008	81	426	0.1901	0	c.109 others(6): Show c.1095+6G>A		AIRE	ENSG00000160224.17	transcript	ENST00000291582.6	protein_coding	9/13					chr21	TogoVar
AJAP1_chr1_4649609_4797534	4711892	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0081 a0001c0001t0081	a0001c0001t0081g0292 a0001c0001t0081g0292	1	334	0.0030	0	c.30- others(4): Show c.30-8C>G		AJAP1	ENSG00000196581.11	transcript	ENST00000378191.5	protein_coding	1/5					chr1	TogoVar
AK4_chr1_65143203_65237145	65148560	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02615.hp2 HG03195.hp2 HG03471.hp2 HG02615.hp2 HG03195.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0014 a0001c0001t0056 a0001c0001t0009 a0001c0001t0014 a0001c0001t0056	a0001c0001t0009g0003 a0001c0001t0014g0001 a0001c0001t0056g0002 a0001c0001t0009g0003 a0001c0001t0014g0001 a0001c0001t0056g0002	3	300	0.0100	0	c.145 others(5): Show c.145+8G>C		AK4	ENSG00000162433.15	transcript	ENST00000327299.8	protein_coding	1/4					chr1	TogoVar
AK4_chr1_65143203_65237145	65224748	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	300	0.0033	0	c.439 others(5): Show c.439-4G>T		AK4	ENSG00000162433.15	transcript	ENST00000327299.8	protein_coding	3/4					chr1	TogoVar
AK4_chr1_65143203_65237145	65224873	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	300	0.0033	0	c.557 others(5): Show c.557+3G>A		AK4	ENSG00000162433.15	transcript	ENST00000327299.8	protein_coding	4/4					chr1	TogoVar
AK5_chr1_77277019_77564966	77286937	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00735.hp1 HG02280.hp1 HG02622.hp1 others(8): Show HG00735.hp1 HG02280.hp1 HG02622.hp1 HG02723.hp1 HG02738.hp2 HG02896.hp1 HG02922.hp2 HG03195.hp1 HG03516.hp2 HG03579.hp1 NA19240.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0005 a0001c0001 a0002c0002 a0003c0005	a0001c0001t0001 a0001c0001t0007 a0002c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0007 a0002c0002t0002 a0003c0005t0008	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 others(8): Show a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0007g0235 a0002c0002t0002g0014 a0002c0002t0002g0016 a0002c0002t0002g0020 a0003c0005t0008g0130	11	284	0.0387	0	c.61- others(4): Show c.61-4T>C		AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	1/13					chr1	TogoVar
AK5_chr1_77277019_77564966	77558599	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(191): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00408.hp1 HG00438.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp2 NA18940.hp2 NA18941.hp1 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18951.hp1 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18973.hp1 NA18973.hp2 NA18982.hp2 NA18984.hp1 NA18986.hp2 NA18988.hp2 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19005.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19054.hp2 NA19058.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19088.hp2 NA19091.hp1 NA19240.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0003 a0001c0008 others(6): Show a0001c0001 a0001c0003 a0001c0008 a0001c0009 a0002c0002 a0002c0004 a0002c0006 a0003c0005 a0004c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(25): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0017 a0001c0001t0019 a0001c0001t0023 a0001c0001t0024 a0001c0001t0028 a0001c0003t0001 a0001c0003t0004 a0001c0003t0007 a0001c0003t0021 a0001c0008t0001 a0001c0009t0004 a0002c0002t0009 a0002c0002t0011 a0002c0002t0012 a0002c0002t0013 a0002c0002t0016 a0002c0002t0025 a0002c0004t0012 a0002c0006t0014 a0002c0006t0020 a0003c0005t0009 a0004c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(191): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0258 a0001c0001t0001g0263 a0001c0001t0001g0280 a0001c0001t0001g0283 a0001c0001t0003g0147 a0001c0001t0003g0149 a0001c0001t0003g0150 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0157 a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0003g0161 a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0174 a0001c0001t0003g0176 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0187 a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0194 a0001c0001t0003g0229 a0001c0001t0003g0284 a0001c0001t0004g0022 a0001c0001t0004g0024 a0001c0001t0004g0029 a0001c0001t0004g0030 a0001c0001t0004g0031 a0001c0001t0004g0034 a0001c0001t0004g0035 a0001c0001t0004g0043 a0001c0001t0004g0044 a0001c0001t0004g0047 a0001c0001t0004g0056 a0001c0001t0004g0085 a0001c0001t0004g0093 a0001c0001t0004g0195 a0001c0001t0004g0202 a0001c0001t0004g0206 a0001c0001t0004g0269 a0001c0001t0004g0270 a0001c0001t0005g0231 a0001c0001t0006g0144 a0001c0001t0006g0145 a0001c0001t0006g0146 a0001c0001t0006g0193 a0001c0001t0006g0227 a0001c0001t0006g0228 a0001c0001t0006g0230 a0001c0001t0006g0233 a0001c0001t0007g0106 a0001c0001t0007g0112 a0001c0001t0007g0212 a0001c0001t0007g0235 a0001c0001t0007g0281 a0001c0001t0017g0051 a0001c0001t0019g0158 a0001c0001t0019g0188 a0001c0001t0023g0219 a0001c0001t0024g0234 a0001c0001t0028g0185 a0001c0003t0001g0239 a0001c0003t0001g0242 a0001c0003t0001g0243 a0001c0003t0001g0244 a0001c0003t0001g0246 a0001c0003t0001g0250 a0001c0003t0001g0260 a0001c0003t0001g0261 a0001c0003t0001g0262 a0001c0003t0004g0236 a0001c0003t0004g0248 a0001c0003t0004g0253 a0001c0003t0004g0257 a0001c0003t0007g0132 a0001c0003t0021g0237 a0001c0008t0001g0038 a0001c0009t0004g0091 a0002c0002t0009g0134 a0002c0002t0009g0137 a0002c0002t0011g0084 a0002c0002t0011g0101 a0002c0002t0011g0141 a0002c0002t0011g0220 a0002c0002t0012g0003 a0002c0002t0012g0032 a0002c0002t0012g0275 a0002c0002t0013g0094 a0002c0002t0013g0197 a0002c0002t0013g0232 a0002c0002t0016g0126 a0002c0002t0016g0127 a0002c0002t0025g0277 a0002c0004t0012g0131 a0002c0006t0014g0088 a0002c0006t0014g0089 a0002c0006t0020g0090 a0003c0005t0009g0005 a0003c0005t0009g0133 a0003c0005t0009g0138 a0004c0007t0001g0215	194	284	0.6831	0	c.162 others(6): Show c.1621-3T>C		AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	13/13					chr1	TogoVar
AK6_chr5_69345984_69374520	69355641	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00438.hp1 NA19011.hp2 HG00438.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0136 a0001c0001t0001g0137	2	421	0.0048	0	c.326 others(5): Show c.326+8A>T		AK6	ENSG00000085231.14	transcript	ENST00000380822.9	protein_coding	4/4					chr5	TogoVar
AK7_chr14_96387128_96494427	96420814	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02451.hp2 HG02451.hp2	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0002 a0009c0011t0002	a0009c0011t0002g0007 a0009c0011t0002g0007	1	316	0.0032	0	c.499 others(5): Show c.499-8T>C		AK7	ENSG00000140057.9	transcript	ENST00000267584.9	protein_coding	4/17					chr14	TogoVar
AK7_chr14_96387128_96494427	96471471	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	316	0.0032	0	c.135 others(6): Show c.1358-7T>C		AK7	ENSG00000140057.9	transcript	ENST00000267584.9	protein_coding	12/17					chr14	TogoVar
AK8_chr9_132720578_132883284	132792779	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	266	0.0038	0	c.980 others(5): Show c.980-4G>T		AK8	ENSG00000165695.10	transcript	ENST00000298545.4	protein_coding	10/12					chr9	TogoVar
AK8_chr9_132720578_132883284	132828088	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	266	0.0038	0	c.485 others(5): Show c.485-4C>T		AK8	ENSG00000165695.10	transcript	ENST00000298545.4	protein_coding	6/12					chr9	TogoVar
AK9_chr6_109487855_109696202	109514443	AC AC	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00280.hp2 HG00323.hp2 others(85): Show HG00099.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp2 HG00609.hp2 HG00738.hp2 HG00741.hp1 HG01106.hp1 HG01169.hp1 HG01175.hp1 HG01243.hp2 HG01255.hp1 HG01258.hp2 HG01358.hp2 HG01496.hp1 HG01515.hp1 HG01928.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01993.hp1 HG02015.hp2 HG02071.hp2 HG02132.hp1 HG02135.hp2 HG02148.hp1 HG02155.hp1 HG02293.hp1 HG02300.hp2 HG02523.hp1 HG02622.hp2 HG02698.hp2 HG02735.hp2 HG02738.hp1 HG03017.hp2 HG03239.hp2 HG03490.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp2 HG03927.hp2 HG04184.hp2 HG04204.hp1 HG04228.hp1 NA18612.hp1 NA18747.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp2 NA18949.hp1 NA18953.hp2 NA18957.hp2 NA18959.hp2 NA18961.hp1 NA18963.hp1 NA18967.hp2 NA18969.hp2 NA18972.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18977.hp1 NA18982.hp2 NA18985.hp1 NA18999.hp1 NA19002.hp1 NA19004.hp1 NA19006.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp2 NA19056.hp2 NA19065.hp1 NA19068.hp2 NA19070.hp1 NA19072.hp2 NA19074.hp1 NA19079.hp1 NA19085.hp1 NA19086.hp2 NA19087.hp1 NA19090.hp2 NA19091.hp2 NA20129.hp2 NA20805.hp1	a0002 a0010 a0019 others(1): Show a0002 a0010 a0019 a0020	a0002c0001 a0002c0016 a0002c0025 others(5): Show a0002c0001 a0002c0016 a0002c0025 a0002c0026 a0002c0028 a0010c0014 a0019c0024 a0020c0027	a0002c0001t0001 a0002c0001t0002 a0002c0016t0002 others(6): Show a0002c0001t0001 a0002c0001t0002 a0002c0016t0002 a0002c0025t0002 a0002c0026t0002 a0002c0028t0002 a0010c0014t0002 a0019c0024t0002 a0020c0027t0002	a0002c0001t0001g0289 a0002c0001t0001g0290 a0002c0001t0002g0002 others(83): Show a0002c0001t0001g0289 a0002c0001t0001g0290 a0002c0001t0002g0002 a0002c0001t0002g0003 a0002c0001t0002g0293 a0002c0001t0002g0294 a0002c0001t0002g0295 a0002c0001t0002g0296 a0002c0001t0002g0297 a0002c0001t0002g0298 a0002c0001t0002g0299 a0002c0001t0002g0300 a0002c0001t0002g0301 a0002c0001t0002g0302 a0002c0001t0002g0303 a0002c0001t0002g0304 a0002c0001t0002g0305 a0002c0001t0002g0307 a0002c0001t0002g0308 a0002c0001t0002g0309 a0002c0001t0002g0310 a0002c0001t0002g0311 a0002c0001t0002g0312 a0002c0001t0002g0313 a0002c0001t0002g0314 a0002c0001t0002g0319 a0002c0001t0002g0320 a0002c0001t0002g0321 a0002c0001t0002g0322 a0002c0001t0002g0323 a0002c0001t0002g0324 a0002c0001t0002g0325 a0002c0001t0002g0326 a0002c0001t0002g0327 a0002c0001t0002g0328 a0002c0001t0002g0329 a0002c0001t0002g0330 a0002c0001t0002g0331 a0002c0001t0002g0332 a0002c0001t0002g0333 a0002c0001t0002g0334 a0002c0001t0002g0335 a0002c0001t0002g0336 a0002c0001t0002g0337 a0002c0001t0002g0338 a0002c0001t0002g0339 a0002c0001t0002g0340 a0002c0001t0002g0341 a0002c0001t0002g0342 a0002c0001t0002g0343 a0002c0001t0002g0344 a0002c0001t0002g0345 a0002c0001t0002g0346 a0002c0001t0002g0347 a0002c0001t0002g0348 a0002c0001t0002g0350 a0002c0001t0002g0351 a0002c0001t0002g0352 a0002c0001t0002g0354 a0002c0001t0002g0355 a0002c0001t0002g0356 a0002c0001t0002g0357 a0002c0001t0002g0358 a0002c0001t0002g0361 a0002c0001t0002g0363 a0002c0001t0002g0364 a0002c0001t0002g0365 a0002c0001t0002g0366 a0002c0001t0002g0367 a0002c0001t0002g0368 a0002c0001t0002g0369 a0002c0001t0002g0370 a0002c0001t0002g0371 a0002c0001t0002g0372 a0002c0001t0002g0373 a0002c0001t0002g0374 a0002c0016t0002g0353 a0002c0016t0002g0362 a0002c0025t0002g0306 a0002c0026t0002g0359 a0002c0028t0002g0315 a0010c0014t0002g0316 a0010c0014t0002g0317 a0010c0014t0002g0318 a0019c0024t0002g0349 a0020c0027t0002g0292	88	378	0.2328	-1	c.406 others(7): Show c.4066-7delG		AK9	ENSG00000155085.16	transcript	ENST00000424296.7	protein_coding	31/40					chr6	TogoVar
AK9_chr6_109487855_109696202	109573596	T T	TA TA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02809.hp2 HG03130.hp2 HG03579.hp1 others(1): Show HG02809.hp2 HG03130.hp2 HG03579.hp1 NA18522.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0169 a0003c0003t0001g0170 a0003c0003t0001g0171 others(1): Show a0003c0003t0001g0169 a0003c0003t0001g0170 a0003c0003t0001g0171 a0003c0003t0001g0176	4	378	0.0106	1	c.219 others(7): Show c.2192-3dupT		AK9	ENSG00000155085.16	transcript	ENST00000424296.7	protein_coding	20/40					chr6	TogoVar
AK9_chr6_109487855_109696202	109610517	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02809.hp2 HG03130.hp2 HG03579.hp1 others(1): Show HG02809.hp2 HG03130.hp2 HG03579.hp1 NA18522.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0169 a0003c0003t0001g0170 a0003c0003t0001g0171 others(1): Show a0003c0003t0001g0169 a0003c0003t0001g0170 a0003c0003t0001g0171 a0003c0003t0001g0176	4	378	0.0106	0	c.169 others(6): Show c.1694-4T>C		AK9	ENSG00000155085.16	transcript	ENST00000424296.7	protein_coding	16/40					chr6	TogoVar
AK9_chr6_109487855_109696202	109619086	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02280.hp1 HG02559.hp1 HG03453.hp2 others(2): Show HG02280.hp1 HG02559.hp1 HG03453.hp2 HG03540.hp2 NA18906.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0083 a0007c0009t0001g0084 a0007c0009t0001g0085 others(2): Show a0007c0009t0001g0083 a0007c0009t0001g0084 a0007c0009t0001g0085 a0007c0009t0001g0087 a0007c0009t0001g0088	5	378	0.0132	0	c.139 others(6): Show c.1399+6A>G		AK9	ENSG00000155085.16	transcript	ENST00000424296.7	protein_coding	13/40					chr6	TogoVar
AKAP10_chr17_19899302_19982828	19931799	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp2 HG00438.hp1 HG01070.hp1 others(37): Show HG00140.hp2 HG00438.hp1 HG01070.hp1 HG01099.hp1 HG01106.hp2 HG01168.hp2 HG01169.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01981.hp2 HG02027.hp2 HG02074.hp2 HG02129.hp2 HG02132.hp2 HG02148.hp2 HG02273.hp1 HG02293.hp1 HG02523.hp1 HG04184.hp2 HG04204.hp1 NA18612.hp2 NA18942.hp2 NA18943.hp2 NA18968.hp1 NA18970.hp1 NA18977.hp2 NA18990.hp1 NA18998.hp1 NA19043.hp1 NA19062.hp2 NA19063.hp2 NA19066.hp1 NA19072.hp1 NA19080.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0002 a0001c0001t0011 a0001c0001t0018 others(2): Show a0001c0001t0002 a0001c0001t0011 a0001c0001t0018 a0001c0001t0019 a0001c0008t0002	a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 others(37): Show a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0030 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0049 a0001c0001t0011g0047 a0001c0001t0018g0029 a0001c0001t0019g0031 a0001c0008t0002g0048	40	278	0.1439	0	c.164 others(6): Show c.1641+6G>A		AKAP10	ENSG00000108599.15	transcript	ENST00000225737.11	protein_coding	10/14					chr17	TogoVar
AKAP10_chr17_19899302_19982828	19968465	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0028 a0001c0006t0028	a0001c0006t0028g0056 a0001c0006t0028g0056	1	278	0.0036	0	c.89- others(4): Show c.89-4C>G		AKAP10	ENSG00000108599.15	transcript	ENST00000225737.11	protein_coding	1/14					chr17	TogoVar
AKAP11_chr13_42267152_42328261	42286038	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03098.hp2 HG03098.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0034 a0005c0007t0034	a0005c0007t0034g0141 a0005c0007t0034g0141	1	378	0.0027	0	c.-50 others(5): Show c.-50+3A>G		AKAP11	ENSG00000023516.9	transcript	ENST00000025301.4	protein_coding	2/12					chr13	TogoVar
AKAP12_chr6_151234967_151363559	151305910	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0069 a0001c0002t0001g0069	1	316	0.0032	0	c.319 others(5): Show c.319+7C>T		AKAP12	ENSG00000131016.17	transcript	ENST00000402676.7	protein_coding	3/4					chr6	TogoVar
AKAP12_chr6_151234967_151363559	151353752	G G	A A	splice_region_variant splice_region_variant	LOW	NA21309.hp2 NA21309.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0028 a0005c0006t0028	a0005c0006t0028g0117 a0005c0006t0028g0117	1	316	0.0032	0	c.12 others(3): Show c.12G>A		AKAP12	ENSG00000131016.17	transcript	ENST00000402676.7	protein_coding	4/5					chr6	TogoVar
AKAP12_chr6_151234967_151363559	151358559	A A	G G	splice_region_variant splice_region_variant	LOW	NA21309.hp2 NA21309.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0028 a0005c0006t0028	a0005c0006t0028g0117 a0005c0006t0028g0117	1	316	0.0032	0	c.28 others(5): Show c.2845A>G		AKAP12	ENSG00000131016.17	transcript	ENST00000402676.7	protein_coding	5/5					chr6	TogoVar
AKAP13_chr15_85375603_85754355	85730514	A A	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03704.hp2 HG03704.hp2	a0027 a0027	a0027c0058 a0027c0058	a0027c0058t0006 a0027c0058t0006	a0027c0058t0006g0010 a0027c0058t0006g0010	1	314	0.0032	0	c.708 others(4): Show c.7089A>C	p.Glu others(7): Show p.Glu2363Asp	AKAP13	ENSG00000170776.22	transcript	ENST00000394518.7	protein_coding	30/37	7296/13327	7089/8442	2363/2813		chr15	TogoVar
AKAP14_chrX_119890893_119925716	119896266	C C	T T	splice_region_variant splice_region_variant	LOW	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0237 a0001c0001t0004g0237	1	304	0.0033	0	c.-12 others(3): Show c.-12C>T		AKAP14	ENSG00000186471.13	transcript	ENST00000371431.8	protein_coding	2/7					chrX	TogoVar
AKAP14_chrX_119890893_119925716	119903482	C C	CT CT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01106.hp1 HG02896.hp1 HG01106.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0125 a0001c0001t0002g0226 a0001c0001t0001g0125 a0001c0001t0002g0226	2	304	0.0066	1	c.170 others(6): Show c.170-5dupT		AKAP14	ENSG00000186471.13	transcript	ENST00000371431.8	protein_coding	3/6				INFO_REALIGN_3_PRIME	chrX	TogoVar
AKAP14_chrX_119890893_119925716	119914877	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00639.hp1 HG00639.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0269 a0003c0003t0001g0269	1	304	0.0033	0	c.440 others(3): Show c.440C>T	p.Pro others(6): Show p.Pro147Leu	AKAP14	ENSG00000186471.13	transcript	ENST00000371431.8	protein_coding	5/7	658/921	440/594	147/197		chrX	TogoVar

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