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
ACTN1_chr14_68869128_68984302	68890140	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0181 a0001c0009t0001g0264 a0001c0009t0001g0181 a0001c0009t0001g0264	2	284	0.0070	0	c.123 others(4): Show c.1233C>T	p.Asp others(6): Show p.Asp411Asp	ACTN1	ENSG00000072110.16	transcript	ENST00000394419.9	protein_coding	11/22	1479/3722	1233/2745	411/914		chr14	TogoVar
ACTN1_chr14_68869128_68984302	68904649	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02818.hp2 HG06807.hp1 HG02818.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0004 a0001c0001t0001 a0001c0002t0004	a0001c0001t0001g0152 a0001c0002t0004g0108 a0001c0001t0001g0152 a0001c0002t0004g0108	2	284	0.0070	0	c.676 others(5): Show c.676+6A>G		ACTN1	ENSG00000072110.16	transcript	ENST00000394419.9	protein_coding	7/21					chr14	TogoVar
ACTN2_chr1_236681499_236769631	236717975	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19063.hp2 NA19063.hp2	a0005 a0005	a0005c0033 a0005c0033	a0005c0033t0003 a0005c0033t0003	a0005c0033t0003g0169 a0005c0033t0003g0169	1	344	0.0029	0	c.241 others(5): Show c.241+3T>C		ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	2/20					chr1	TogoVar
ACTN2_chr1_236681499_236769631	236717978	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19063.hp2 NA19063.hp2	a0005 a0005	a0005c0033 a0005c0033	a0005c0033t0003 a0005c0033t0003	a0005c0033t0003g0169 a0005c0033t0003g0169	1	344	0.0029	0	c.241 others(5): Show c.241+6T>A		ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	2/20					chr1	TogoVar
ACTN2_chr1_236681499_236769631	236717979	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19063.hp2 NA19063.hp2	a0005 a0005	a0005c0033 a0005c0033	a0005c0033t0003 a0005c0033t0003	a0005c0033t0003g0169 a0005c0033t0003g0169	1	344	0.0029	0	c.241 others(5): Show c.241+7G>T		ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	2/20					chr1	TogoVar
ACTN2_chr1_236681499_236769631	236717980	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19063.hp2 NA19063.hp2	a0005 a0005	a0005c0033 a0005c0033	a0005c0033t0003 a0005c0033t0003	a0005c0033t0003g0169 a0005c0033t0003g0169	1	344	0.0029	0	c.241 others(5): Show c.241+8T>C		ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	2/20					chr1	TogoVar
ACTN2_chr1_236681499_236769631	236739294	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(255): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18972.hp1 NA18973.hp1 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19072.hp1 NA19072.hp2 NA19077.hp1 NA19077.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19091.hp2 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008	a0001c0001 a0001c0002 a0001c0003 others(28): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0009 a0001c0010 a0001c0011 a0001c0013 a0001c0014 a0001c0015 a0001c0016 a0001c0018 a0001c0021 a0001c0024 a0001c0025 a0001c0028 a0001c0029 a0001c0031 a0002c0005 a0002c0008 a0002c0019 a0002c0020 a0003c0012 a0004c0026 a0004c0032 a0005c0033 a0006c0022 a0007c0023 a0008c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(54): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0001t0019 a0001c0001t0025 a0001c0002t0002 a0001c0002t0007 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0005 a0001c0003t0006 a0001c0003t0020 a0001c0003t0021 a0001c0003t0022 a0001c0004t0002 a0001c0004t0005 a0001c0006t0002 a0001c0006t0008 a0001c0007t0004 a0001c0007t0015 a0001c0009t0003 a0001c0010t0002 a0001c0011t0004 a0001c0011t0005 a0001c0013t0002 a0001c0013t0023 a0001c0014t0002 a0001c0015t0016 a0001c0016t0003 a0001c0018t0006 a0001c0021t0001 a0001c0024t0003 a0001c0025t0006 a0001c0028t0026 a0001c0029t0005 a0001c0031t0005 a0002c0005t0004 a0002c0008t0004 a0002c0019t0004 a0002c0020t0002 a0003c0012t0008 a0004c0026t0005 a0004c0032t0017 a0005c0033t0003 a0006c0022t0001 a0007c0023t0001 a0008c0017t0024	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(255): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0103 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0188 a0001c0001t0001g0219 a0001c0001t0001g0225 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0269 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0282 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0301 a0001c0001t0001g0304 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0312 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0338 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0002g0156 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0026 a0001c0001t0003g0029 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0111 a0001c0001t0003g0138 a0001c0001t0003g0140 a0001c0001t0003g0143 a0001c0001t0003g0147 a0001c0001t0003g0149 a0001c0001t0003g0153 a0001c0001t0003g0155 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0202 a0001c0001t0003g0207 a0001c0001t0003g0210 a0001c0001t0003g0238 a0001c0001t0003g0249 a0001c0001t0003g0266 a0001c0001t0003g0268 a0001c0001t0003g0272 a0001c0001t0003g0279 a0001c0001t0003g0284 a0001c0001t0003g0299 a0001c0001t0003g0324 a0001c0001t0003g0329 a0001c0001t0003g0336 a0001c0001t0003g0339 a0001c0001t0003g0340 a0001c0001t0003g0343 a0001c0001t0004g0059 a0001c0001t0004g0069 a0001c0001t0004g0071 a0001c0001t0004g0074 a0001c0001t0004g0075 a0001c0001t0004g0078 a0001c0001t0004g0102 a0001c0001t0004g0117 a0001c0001t0004g0178 a0001c0001t0004g0200 a0001c0001t0004g0226 a0001c0001t0004g0246 a0001c0001t0004g0293 a0001c0001t0004g0295 a0001c0001t0005g0055 a0001c0001t0005g0080 a0001c0001t0005g0151 a0001c0001t0005g0181 a0001c0001t0006g0135 a0001c0001t0009g0073 a0001c0001t0009g0091 a0001c0001t0009g0118 a0001c0001t0009g0152 a0001c0001t0011g0067 a0001c0001t0011g0090 a0001c0001t0012g0019 a0001c0001t0012g0109 a0001c0001t0012g0337 a0001c0001t0014g0082 a0001c0001t0014g0084 a0001c0001t0014g0086 a0001c0001t0015g0116 a0001c0001t0018g0088 a0001c0001t0018g0303 a0001c0001t0019g0250 a0001c0001t0019g0252 a0001c0001t0025g0010 a0001c0002t0002g0016 a0001c0002t0002g0017 a0001c0002t0002g0072 a0001c0002t0002g0079 a0001c0002t0002g0087 a0001c0002t0002g0162 a0001c0002t0002g0165 a0001c0002t0002g0179 a0001c0002t0002g0220 a0001c0002t0002g0245 a0001c0002t0002g0255 a0001c0002t0002g0263 a0001c0002t0002g0271 a0001c0002t0002g0273 a0001c0002t0002g0278 a0001c0002t0002g0302 a0001c0002t0002g0309 a0001c0002t0002g0310 a0001c0002t0002g0314 a0001c0002t0007g0298 a0001c0002t0007g0300 a0001c0003t0001g0129 a0001c0003t0001g0133 a0001c0003t0002g0051 a0001c0003t0002g0170 a0001c0003t0003g0058 a0001c0003t0005g0047 a0001c0003t0005g0048 a0001c0003t0005g0050 a0001c0003t0005g0068 a0001c0003t0005g0172 a0001c0003t0006g0124 a0001c0003t0006g0126 a0001c0003t0006g0130 a0001c0003t0006g0131 a0001c0003t0006g0132 a0001c0003t0006g0134 a0001c0003t0006g0136 a0001c0003t0020g0122 a0001c0003t0021g0125 a0001c0003t0022g0093 a0001c0004t0002g0062 a0001c0004t0002g0064 a0001c0004t0002g0240 a0001c0004t0005g0056 a0001c0004t0005g0060 a0001c0004t0005g0061 a0001c0004t0005g0065 a0001c0004t0005g0077 a0001c0004t0005g0081 a0001c0004t0005g0120 a0001c0004t0005g0199 a0001c0006t0002g0049 a0001c0006t0002g0150 a0001c0006t0002g0171 a0001c0006t0008g0127 a0001c0006t0008g0128 a0001c0006t0008g0344 a0001c0007t0004g0070 a0001c0007t0004g0085 a0001c0007t0004g0112 a0001c0007t0015g0096 a0001c0009t0003g0012 a0001c0009t0003g0013 a0001c0009t0003g0038 a0001c0010t0002g0160 a0001c0010t0002g0164 a0001c0011t0004g0101 a0001c0011t0005g0100 a0001c0013t0002g0054 a0001c0013t0023g0095 a0001c0014t0002g0052 a0001c0015t0016g0113 a0001c0015t0016g0115 a0001c0016t0003g0108 a0001c0018t0006g0123 a0001c0021t0001g0254 a0001c0024t0003g0014 a0001c0025t0006g0121 a0001c0028t0026g0106 a0001c0029t0005g0107 a0001c0031t0005g0053 a0002c0005t0004g0008 a0002c0005t0004g0009 a0002c0005t0004g0035 a0002c0005t0004g0256 a0002c0005t0004g0257 a0002c0005t0004g0294 a0002c0005t0004g0297 a0002c0005t0004g0305 a0002c0005t0004g0306 a0002c0008t0004g0025 a0002c0008t0004g0027 a0002c0008t0004g0168 a0002c0008t0004g0277 a0002c0019t0004g0002 a0002c0020t0002g0007 a0003c0012t0008g0092 a0003c0012t0008g0098 a0004c0026t0005g0076 a0004c0032t0017g0094 a0005c0033t0003g0169 a0006c0022t0001g0203 a0007c0023t0001g0332 a0008c0017t0024g0099	258	344	0.7500	0	c.877 others(5): Show c.877-8C>G		ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	9/20					chr1	TogoVar
ACTN2_chr1_236681499_236769631	236755013	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0300 a0001c0002t0007g0300	1	344	0.0029	0	c.197 others(6): Show c.1975-6C>T		ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	16/20					chr1	TogoVar
ACTN3_chr11_66541903_66568334	66556237	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19058.hp2 NA19058.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0119 a0002c0002t0001g0119	1	400	0.0025	0	c.804 others(5): Show c.804+7C>T		ACTN3	ENSG00000248746.6	transcript	ENST00000513398.2	protein_coding	8/20					chr11	TogoVar
ACTN3_chr11_66541903_66568334	66561450	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	400	0.0025	0	c.199 others(6): Show c.1996-8C>A		ACTN3	ENSG00000248746.6	transcript	ENST00000513398.2	protein_coding	16/20					chr11	TogoVar
ACTN3_chr11_66541903_66568334	66562168	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00642.hp1 HG00735.hp1 HG01255.hp1 others(18): Show HG00642.hp1 HG00735.hp1 HG01255.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01516.hp2 HG02004.hp2 HG02109.hp1 HG02257.hp1 HG02559.hp1 HG02602.hp1 HG03239.hp1 HG03491.hp2 HG03492.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG04204.hp2 NA19079.hp2	a0003 a0015 a0003 a0015	a0003c0004 a0015c0020 a0003c0004 a0015c0020	a0003c0004t0001 a0015c0020t0001 a0003c0004t0001 a0015c0020t0001	a0003c0004t0001g0008 a0003c0004t0001g0015 a0003c0004t0001g0022 others(7): Show a0003c0004t0001g0008 a0003c0004t0001g0015 a0003c0004t0001g0022 a0003c0004t0001g0056 a0003c0004t0001g0058 a0003c0004t0001g0059 a0003c0004t0001g0060 a0003c0004t0001g0061 a0003c0004t0001g0081 a0015c0020t0001g0008	21	400	0.0525	0	c.232 others(4): Show c.2322G>A	p.Arg others(6): Show p.Arg774Arg	ACTN3	ENSG00000248746.6	transcript	ENST00000513398.2	protein_coding	18/21	2357/2882	2322/2706	774/901		chr11	TogoVar
ACTN4_chr19_38642649_38736589	38726952	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02735.hp1 HG03710.hp2 HG02735.hp1 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0198 a0001c0001t0022g0199 a0001c0001t0022g0198 a0001c0001t0022g0199	2	314	0.0064	0	c.219 others(6): Show c.2191-5C>T		ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding	17/20					chr19	TogoVar
ACTR10_chr14_58195149_58240636	58200294	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03195.hp1 HG03195.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0005 a0004c0005t0005	a0004c0005t0005g0128 a0004c0005t0005g0128	1	322	0.0031	0	c.77A others(2): Show c.77A>G	p.Lys others(5): Show p.Lys26Arg	ACTR10	ENSG00000131966.14	transcript	ENST00000254286.9	protein_coding	1/13	146/2408	77/1254	26/417		chr14	TogoVar
ACTR10_chr14_58195149_58240636	58223624	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00544.hp2 HG00544.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0094 a0002c0004t0001g0094	1	322	0.0031	0	c.637 others(3): Show c.637C>T	p.Arg others(6): Show p.Arg213Cys	ACTR10	ENSG00000131966.14	transcript	ENST00000254286.9	protein_coding	9/13	706/2408	637/1254	213/417		chr14	TogoVar
ACTR1A_chr10_102474229_102507712	102484382	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp1 HG00673.hp2 HG00733.hp1 others(95): Show HG00280.hp1 HG00673.hp2 HG00733.hp1 HG01069.hp1 HG01071.hp1 HG01099.hp1 HG01123.hp2 HG01175.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01981.hp1 HG01993.hp1 HG02027.hp2 HG02040.hp1 HG02074.hp1 HG02083.hp1 HG02129.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02273.hp2 HG02602.hp1 HG02683.hp2 HG02922.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03579.hp2 HG03688.hp1 HG03704.hp1 HG03831.hp1 HG04199.hp2 HG06807.hp2 NA18942.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18950.hp1 NA18954.hp2 NA18955.hp1 NA18957.hp2 NA18959.hp1 NA18969.hp2 NA18972.hp2 NA18973.hp2 NA18975.hp2 NA18979.hp2 NA18981.hp1 NA18983.hp2 NA18991.hp2 NA18992.hp2 NA18994.hp2 NA18995.hp2 NA19002.hp2 NA19003.hp1 NA19005.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19043.hp1 NA19054.hp1 NA19056.hp2 NA19058.hp2 NA19060.hp2 NA19064.hp2 NA19068.hp2 NA19070.hp2 NA19072.hp2 NA19076.hp2 NA19077.hp2 NA19080.hp2 NA19081.hp1 NA19085.hp1 NA19086.hp2 NA19087.hp2 NA19090.hp2 NA19240.hp1 NA20752.hp2 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 others(1): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0003c0003t0003	a0001c0001t0003g0005 a0001c0001t0003g0009 a0001c0001t0003g0013 others(70): Show a0001c0001t0003g0005 a0001c0001t0003g0009 a0001c0001t0003g0013 a0001c0001t0003g0021 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0159 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0203 a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0003g0233 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0247 a0001c0001t0003g0248 a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0003g0252 a0001c0001t0003g0253 a0001c0001t0006g0052 a0001c0001t0008g0202 a0003c0003t0003g0232	98	388	0.2526	0	c.441 others(5): Show c.441-6C>A		ACTR1A	ENSG00000138107.13	transcript	ENST00000369905.9	protein_coding	5/10					chr10	TogoVar
ACTR1B_chr2_97650939_97669044	97657198	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(217): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01943.hp1 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03710.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04204.hp2 HG04228.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18943.hp1 NA18946.hp1 NA18947.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp2 NA18962.hp1 NA18963.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18983.hp1 NA18991.hp1 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19002.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19060.hp1 NA19064.hp2 NA19065.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19075.hp2 NA19080.hp1 NA19083.hp2 NA19085.hp2 NA19088.hp2 NA19089.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0002 a0001c0007 a0001c0010 others(3): Show a0001c0002 a0001c0007 a0001c0010 a0002c0003 a0003c0004 a0004c0009	a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 others(11): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0009 a0001c0007t0005 a0001c0010t0009 a0002c0003t0003 a0002c0003t0005 a0002c0003t0010 a0002c0003t0011 a0003c0004t0002 a0004c0009t0002	a0001c0002t0002g0002 a0001c0002t0002g0008 a0001c0002t0002g0014 others(32): Show a0001c0002t0002g0002 a0001c0002t0002g0008 a0001c0002t0002g0014 a0001c0002t0002g0016 a0001c0002t0002g0020 a0001c0002t0002g0023 a0001c0002t0002g0040 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0002g0066 a0001c0002t0003g0035 a0001c0002t0004g0003 a0001c0002t0004g0029 a0001c0002t0005g0006 a0001c0002t0005g0054 a0001c0002t0005g0055 a0001c0002t0005g0056 a0001c0002t0006g0011 a0001c0002t0006g0026 a0001c0002t0009g0030 a0001c0007t0005g0033 a0001c0010t0009g0031 a0002c0003t0003g0005 a0002c0003t0003g0010 a0002c0003t0003g0013 a0002c0003t0003g0057 a0002c0003t0003g0059 a0002c0003t0005g0007 a0002c0003t0010g0024 a0002c0003t0011g0058 a0003c0004t0002g0009 a0004c0009t0002g0065	220	398	0.5528	0	c.988 others(5): Show c.988-6T>C		ACTR1B	ENSG00000115073.8	transcript	ENST00000289228.7	protein_coding	9/10					chr2	TogoVar
ACTR1B_chr2_97650939_97669044	97658320	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02559.hp1 HG02615.hp1 HG02615.hp2 others(4): Show HG02559.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02896.hp1 NA19043.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0011 a0001c0002t0006g0026 a0001c0002t0006g0011 a0001c0002t0006g0026	7	398	0.0176	0	c.658 others(5): Show c.658-4G>A		ACTR1B	ENSG00000115073.8	transcript	ENST00000289228.7	protein_coding	6/10					chr2	TogoVar
ACTR1B_chr2_97650939_97669044	97658880	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0009 a0001c0010t0009	a0001c0010t0009g0031 a0001c0010t0009g0031	1	398	0.0025	0	c.439 others(3): Show c.439C>T	p.Leu others(6): Show p.Leu147Leu	ACTR1B	ENSG00000115073.8	transcript	ENST00000289228.7	protein_coding	5/11	593/2204	439/1131	147/376		chr2	TogoVar
ACTR3B_chr7_152754752_152860378	152816477	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0303 a0001c0004t0001g0303	1	310	0.0032	0	c.433 others(5): Show c.433-4C>G		ACTR3B	ENSG00000133627.18	transcript	ENST00000256001.13	protein_coding	5/11					chr7	TogoVar
ACTR5_chr20_38743460_38777520	38756038	A A	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02055.hp2 HG02258.hp1 HG02055.hp2 HG02258.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0123 a0007c0009t0001g0124 a0007c0009t0001g0123 a0007c0009t0001g0124	2	366	0.0055	0	c.117 others(4): Show c.1175A>C	p.Glu others(6): Show p.Glu392Ala	ACTR5	ENSG00000101442.10	transcript	ENST00000243903.6	protein_coding	5/9	1194/2547	1175/1824	392/607		chr20	TogoVar
ACTR8_chr3_53862066_53887152	53876082	T T	TG TG	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00438.hp2 HG00544.hp2 HG00558.hp2 others(79): Show HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00673.hp2 HG00741.hp2 HG01069.hp2 HG01074.hp2 HG01255.hp2 HG01515.hp1 HG01884.hp1 HG01884.hp2 HG01934.hp2 HG01943.hp2 HG01978.hp1 HG02074.hp1 HG02132.hp1 HG02135.hp1 HG02257.hp1 HG02451.hp1 HG02451.hp2 HG02572.hp1 HG02602.hp1 HG02630.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02970.hp1 HG02970.hp2 HG03453.hp1 HG03471.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03942.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp2 NA18939.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp2 NA18945.hp1 NA18946.hp1 NA18948.hp1 NA18954.hp2 NA18957.hp2 NA18959.hp1 NA18961.hp2 NA18965.hp2 NA18969.hp1 NA18972.hp2 NA18973.hp2 NA18980.hp1 NA18984.hp1 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA19003.hp2 NA19004.hp2 NA19007.hp2 NA19010.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19057.hp1 NA19063.hp2 NA19067.hp2 NA19074.hp2 NA19076.hp2 NA19085.hp1 NA19086.hp1 NA19087.hp1 NA19088.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 a0001c0002t0002 a0001c0002t0010 a0002c0003t0002	a0001c0001t0002g0029 a0001c0001t0002g0067 a0001c0001t0003g0004 others(17): Show a0001c0001t0002g0029 a0001c0001t0002g0067 a0001c0001t0003g0004 a0001c0001t0003g0006 a0001c0001t0003g0012 a0001c0001t0003g0017 a0001c0001t0003g0028 a0001c0001t0003g0065 a0001c0001t0003g0083 a0001c0001t0003g0085 a0001c0001t0003g0087 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0005g0072 a0001c0001t0008g0031 a0001c0001t0011g0039 a0001c0002t0002g0035 a0001c0002t0010g0036 a0002c0003t0002g0078	82	432	0.1898	1	c.779 others(6): Show c.779-3dupC		ACTR8	ENSG00000113812.14	transcript	ENST00000335754.8	protein_coding	6/12					chr3	TogoVar
ACTR8_chr3_53862066_53887152	53876086	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	432	0.0023	0	c.779 others(5): Show c.779-6C>G		ACTR8	ENSG00000113812.14	transcript	ENST00000335754.8	protein_coding	6/12					chr3	TogoVar
ACTR8_chr3_53862066_53887152	53877756	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00323.hp2 HG00558.hp1 HG00621.hp2 others(87): Show HG00323.hp2 HG00558.hp1 HG00621.hp2 HG00733.hp1 HG00735.hp1 HG01123.hp2 HG01175.hp2 HG01243.hp2 HG01496.hp2 HG01943.hp2 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG02004.hp2 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02809.hp2 HG02895.hp2 HG02896.hp1 HG03139.hp1 HG03225.hp2 HG03491.hp1 HG03516.hp2 HG03669.hp1 HG03710.hp1 HG04115.hp2 HG04204.hp1 NA18522.hp1 NA18941.hp2 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18953.hp1 NA18956.hp1 NA18960.hp1 NA18965.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp2 NA18971.hp1 NA18983.hp1 NA18988.hp2 NA18989.hp2 NA18990.hp2 NA18992.hp2 NA18994.hp2 NA19002.hp2 NA19005.hp2 NA19006.hp2 NA19007.hp1 NA19009.hp2 NA19055.hp2 NA19057.hp2 NA19058.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp1 NA19065.hp1 NA19066.hp2 NA19067.hp1 NA19074.hp1 NA19075.hp2 NA19076.hp1 NA19081.hp1 NA19083.hp1 NA19085.hp2 NA19088.hp1 NA19089.hp2 NA19090.hp2 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 others(3): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 a0001c0001t0021 a0002c0003t0002 a0002c0003t0020	a0001c0001t0004g0009 a0001c0001t0004g0064 a0001c0001t0004g0068 others(21): Show a0001c0001t0004g0009 a0001c0001t0004g0064 a0001c0001t0004g0068 a0001c0001t0004g0069 a0001c0001t0004g0071 a0001c0001t0006g0024 a0001c0001t0011g0039 a0001c0001t0021g0070 a0002c0003t0002g0005 a0002c0003t0002g0008 a0002c0003t0002g0010 a0002c0003t0002g0016 a0002c0003t0002g0020 a0002c0003t0002g0030 a0002c0003t0002g0066 a0002c0003t0002g0073 a0002c0003t0002g0074 a0002c0003t0002g0076 a0002c0003t0002g0077 a0002c0003t0002g0078 a0002c0003t0002g0079 a0002c0003t0002g0080 a0002c0003t0002g0081 a0002c0003t0020g0075	90	432	0.2083	0	c.406 others(5): Show c.406-5T>C		ACTR8	ENSG00000113812.14	transcript	ENST00000335754.8	protein_coding	3/12					chr3	TogoVar
ACTR8_chr3_53862066_53887152	53878353	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00741.hp2 HG01069.hp2 HG01515.hp1 others(1): Show HG00741.hp2 HG01069.hp2 HG01515.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0029 a0001c0001t0002g0067 a0001c0001t0005g0072 a0001c0001t0002g0029 a0001c0001t0002g0067 a0001c0001t0005g0072	4	432	0.0093	0	c.405 others(5): Show c.405+4C>T		ACTR8	ENSG00000113812.14	transcript	ENST00000335754.8	protein_coding	3/12					chr3	TogoVar
ACTRT1_chrX_128045962_128057403	128050964	G G	T T	splice_region_variant splice_region_variant	LOW	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0000 a0001c0001t0005g0000	1	285	0.0035	0	c.11 others(4): Show c.112C>A		ACTRT1	ENSG00000123165.9	transcript	ENST00000371124.5	protein_coding	1/1					chrX	TogoVar
ACTRT3_chr3_169761921_169774561	169768356	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00408.hp2 others(215): Show HG00099.hp1 HG00099.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01167.hp2 HG01175.hp2 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp2 HG01433.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02080.hp1 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02698.hp2 HG02717.hp1 HG02809.hp1 HG02818.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03704.hp1 HG03710.hp1 HG03834.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 NA18747.hp1 NA18939.hp1 NA18939.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18947.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18966.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18988.hp2 NA18989.hp1 NA18992.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19072.hp2 NA19074.hp2 NA19075.hp1 NA19077.hp1 NA19077.hp2 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0007 a0008 a0009	a0001c0001 a0002c0002 a0002c0004 others(4): Show a0001c0001 a0002c0002 a0002c0004 a0003c0003 a0007c0009 a0008c0008 a0009c0007	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 others(6): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0002c0002t0004 a0002c0004t0001 a0003c0003t0001 a0007c0009t0001 a0008c0008t0001 a0009c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0016 others(25): Show a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0003g0010 a0002c0002t0001g0004 a0002c0002t0001g0008 a0002c0002t0001g0037 a0002c0002t0001g0047 a0002c0002t0004g0031 a0002c0004t0001g0012 a0002c0004t0001g0032 a0003c0003t0001g0007 a0003c0003t0001g0009 a0003c0003t0001g0021 a0003c0003t0001g0046 a0007c0009t0001g0040 a0008c0008t0001g0018 a0009c0007t0001g0039	218	418	0.5215	0	c.201 others(5): Show c.201-6T>C		ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding	1/1					chr3	TogoVar
ACVR1C_chr2_157521767_157633864	157538567	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(171): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00741.hp1 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp1 HG04115.hp1 HG04115.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18949.hp1 NA18949.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp2 NA18988.hp2 NA18990.hp1 NA18998.hp1 NA18998.hp2 NA19002.hp1 NA19002.hp2 NA19009.hp1 NA19009.hp2 NA19043.hp1 NA19062.hp1 NA19064.hp1 NA19064.hp2 NA19072.hp1 NA19072.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19084.hp1 NA19084.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0007 others(9): Show a0001c0001 a0001c0002 a0001c0007 a0001c0009 a0001c0010 a0002c0003 a0002c0004 a0002c0005 a0002c0008 a0002c0011 a0002c0013 a0003c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(43): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0022 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 a0001c0002t0015 a0001c0002t0019 a0001c0002t0024 a0001c0002t0031 a0001c0002t0037 a0001c0007t0012 a0001c0007t0025 a0001c0009t0011 a0001c0010t0004 a0002c0003t0002 a0002c0003t0005 a0002c0003t0008 a0002c0003t0009 a0002c0003t0010 a0002c0003t0013 a0002c0003t0017 a0002c0003t0020 a0002c0003t0021 a0002c0003t0026 a0002c0004t0002 a0002c0004t0008 a0002c0004t0010 a0002c0004t0013 a0002c0005t0008 a0002c0005t0009 a0002c0008t0002 a0002c0008t0027 a0002c0011t0002 a0002c0013t0010 a0003c0006t0005	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0013 others(170): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0003g0163 a0001c0001t0003g0176 a0001c0001t0004g0139 a0001c0001t0004g0170 a0001c0001t0004g0172 a0001c0001t0004g0184 a0001c0001t0005g0149 a0001c0001t0005g0155 a0001c0001t0005g0164 a0001c0001t0005g0213 a0001c0001t0007g0161 a0001c0001t0007g0197 a0001c0001t0011g0165 a0001c0001t0011g0166 a0001c0001t0022g0168 a0001c0001t0032g0169 a0001c0001t0033g0194 a0001c0001t0034g0144 a0001c0001t0035g0142 a0001c0002t0001g0027 a0001c0002t0001g0032 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0044 a0001c0002t0001g0047 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0063 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0085 a0001c0002t0001g0088 a0001c0002t0001g0094 a0001c0002t0001g0101 a0001c0002t0001g0110 a0001c0002t0001g0112 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0121 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0132 a0001c0002t0001g0136 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0208 a0001c0002t0003g0021 a0001c0002t0003g0123 a0001c0002t0004g0113 a0001c0002t0004g0114 a0001c0002t0004g0122 a0001c0002t0004g0125 a0001c0002t0004g0130 a0001c0002t0004g0134 a0001c0002t0004g0135 a0001c0002t0004g0137 a0001c0002t0004g0138 a0001c0002t0005g0033 a0001c0002t0005g0095 a0001c0002t0007g0001 a0001c0002t0007g0054 a0001c0002t0007g0065 a0001c0002t0007g0072 a0001c0002t0007g0140 a0001c0002t0015g0053 a0001c0002t0015g0141 a0001c0002t0019g0091 a0001c0002t0024g0108 a0001c0002t0031g0087 a0001c0002t0037g0070 a0001c0007t0012g0089 a0001c0007t0025g0084 a0001c0009t0011g0158 a0001c0010t0004g0126 a0002c0003t0002g0006 a0002c0003t0002g0010 a0002c0003t0002g0022 a0002c0003t0002g0023 a0002c0003t0002g0024 a0002c0003t0002g0029 a0002c0003t0002g0034 a0002c0003t0002g0035 a0002c0003t0002g0039 a0002c0003t0002g0040 a0002c0003t0002g0043 a0002c0003t0002g0045 a0002c0003t0002g0046 a0002c0003t0002g0060 a0002c0003t0002g0120 a0002c0003t0002g0124 a0002c0003t0002g0131 a0002c0003t0005g0008 a0002c0003t0005g0076 a0002c0003t0005g0077 a0002c0003t0005g0078 a0002c0003t0005g0079 a0002c0003t0008g0012 a0002c0003t0008g0028 a0002c0003t0008g0080 a0002c0003t0008g0097 a0002c0003t0009g0025 a0002c0003t0009g0026 a0002c0003t0009g0066 a0002c0003t0009g0067 a0002c0003t0010g0031 a0002c0003t0010g0090 a0002c0003t0013g0050 a0002c0003t0017g0214 a0002c0003t0017g0215 a0002c0003t0020g0083 a0002c0003t0021g0096 a0002c0003t0026g0107 a0002c0004t0002g0099 a0002c0004t0002g0100 a0002c0004t0002g0204 a0002c0004t0008g0183 a0002c0004t0010g0190 a0002c0004t0013g0018 a0002c0005t0008g0004 a0002c0005t0008g0005 a0002c0005t0009g0009 a0002c0008t0002g0106 a0002c0008t0027g0105 a0002c0011t0002g0011 a0002c0013t0010g0052 a0003c0006t0005g0167 a0003c0006t0005g0186	174	216	0.8056	0	c.135 others(6): Show c.1356+6G>C		ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding	8/8					chr2	TogoVar
ACVR1_chr2_157731446_157881330	157774081	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02559.hp1 HG03516.hp2 HG02559.hp1 HG03516.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0003 a0001c0005t0003 a0001c0003t0003 a0001c0005t0003	a0001c0003t0003g0144 a0001c0005t0003g0138 a0001c0003t0003g0144 a0001c0005t0003g0138	2	174	0.0115	0	c.643 others(5): Show c.643+7C>T		ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	6/10					chr2	TogoVar
ACVR2A_chr2_147840029_147935822	147930821	G G	A A	splice_region_variant splice_region_variant	LOW	HG02258.hp1 HG02630.hp1 HG02258.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0021 a0001c0002t0024 a0001c0001t0021 a0001c0002t0024	a0001c0001t0021g0012 a0001c0002t0024g0148 a0001c0001t0021g0012 a0001c0002t0024g0148	2	338	0.0059	0	c.35 others(5): Show c.3547G>A		ACVR2A	ENSG00000121989.15	transcript	ENST00000241416.12	protein_coding	11/11					chr2	TogoVar
ACVR2B_chr3_38448890_38498142	38478523	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02895.hp1 HG02897.hp1 HG03098.hp1 others(1): Show HG02895.hp1 HG02897.hp1 HG03098.hp1 HG03209.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0063 a0001c0004t0199 a0001c0004t0200 a0001c0004t0063 a0001c0004t0199 a0001c0004t0200	a0001c0004t0063g0025 a0001c0004t0199g0064 a0001c0004t0200g0060 a0001c0004t0063g0025 a0001c0004t0199g0064 a0001c0004t0200g0060	4	410	0.0098	0	c.666 others(5): Show c.666+5G>A		ACVR2B	ENSG00000114739.14	transcript	ENST00000352511.5	protein_coding	5/10					chr3	TogoVar
ACVR2B_chr3_38448890_38498142	38478526	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0095 a0001c0001t0014g0095	1	410	0.0024	0	c.666 others(5): Show c.666+8T>A		ACVR2B	ENSG00000114739.14	transcript	ENST00000352511.5	protein_coding	5/10					chr3	TogoVar
ACVR2B_chr3_38448890_38498142	38482193	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00738.hp1 HG01433.hp1 HG00738.hp1 HG01433.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0041 a0001c0002t0041	a0001c0002t0041g0048 a0001c0002t0041g0087 a0001c0002t0041g0048 a0001c0002t0041g0087	2	410	0.0049	0	c.107 others(6): Show c.1075-5C>T		ACVR2B	ENSG00000114739.14	transcript	ENST00000352511.5	protein_coding	8/10					chr3	TogoVar
ACVR2B_chr3_38448890_38498142	38482567	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02486.hp2 HG02572.hp2 HG02895.hp2 others(8): Show HG02486.hp2 HG02572.hp2 HG02895.hp2 HG02896.hp1 HG02970.hp2 HG02976.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03486.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0108 a0001c0001t0125 a0001c0001t0126 others(8): Show a0001c0001t0108 a0001c0001t0125 a0001c0001t0126 a0001c0001t0127 a0001c0001t0128 a0001c0001t0129 a0001c0001t0130 a0001c0001t0164 a0001c0001t0165 a0001c0001t0219 a0001c0001t0220	a0001c0001t0108g0139 a0001c0001t0125g0009 a0001c0001t0126g0009 others(8): Show a0001c0001t0108g0139 a0001c0001t0125g0009 a0001c0001t0126g0009 a0001c0001t0127g0009 a0001c0001t0128g0140 a0001c0001t0129g0009 a0001c0001t0130g0141 a0001c0001t0164g0009 a0001c0001t0165g0138 a0001c0001t0219g0009 a0001c0001t0220g0009	11	410	0.0268	0	c.134 others(6): Show c.1344+7G>T		ACVR2B	ENSG00000114739.14	transcript	ENST00000352511.5	protein_coding	10/10					chr3	TogoVar
ACVRL1_chr12_51902504_51928361	51912542	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0137 a0001c0001t0003g0137	1	438	0.0023	0	c.61+ others(4): Show c.61+7A>T		ACVRL1	ENSG00000139567.13	transcript	ENST00000388922.9	protein_coding	2/9					chr12	TogoVar
ACY3_chr11_67637555_67655730	67642555	T T	A A	splice_region_variant splice_region_variant	LOW	HG01255.hp2 HG02809.hp2 HG03225.hp1 others(3): Show HG01255.hp2 HG02809.hp2 HG03225.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0006 a0001c0001t0007 a0002c0002t0013 a0001c0001t0006 a0001c0001t0007 a0002c0002t0013	a0001c0001t0006g0002 a0001c0001t0006g0008 a0001c0001t0006g0039 others(2): Show a0001c0001t0006g0002 a0001c0001t0006g0008 a0001c0001t0006g0039 a0001c0001t0007g0048 a0002c0002t0013g0140	6	396	0.0152	0	c.16 others(4): Show c.169A>T		ACY3	ENSG00000132744.8	transcript	ENST00000255082.8	protein_coding	8/8					chr11	TogoVar
ACYP1_chr14_75048243_75069024	75063464	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01106.hp2 HG01516.hp2 HG01517.hp2 HG01106.hp2 HG01516.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0042 a0001c0001t0002g0026 a0001c0001t0002g0042	3	322	0.0093	0	c.84+ others(4): Show c.84+6T>G		ACYP1	ENSG00000119640.9	transcript	ENST00000238618.8	protein_coding	2/2					chr14	TogoVar
ACYP2_chr2_53966113_54310300	54135454	T T	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02109.hp2 HG02976.hp1 HG02109.hp2 HG02976.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0007 a0003c0004t0007	a0003c0004t0007g0003 a0003c0004t0007g0004 a0003c0004t0007g0003 a0003c0004t0007g0004	2	272	0.0074	0	c.279 others(3): Show c.279T>A	p.Ser others(5): Show p.Ser93Arg	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	5/7	524/1262	279/519	93/172		chr2	TogoVar
ADA2_chr22_17173790_17224435	17182027	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00280.hp1 HG00642.hp2 others(69): Show HG00140.hp1 HG00280.hp1 HG00642.hp2 HG00735.hp1 HG00738.hp2 HG01070.hp1 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01168.hp1 HG01175.hp1 HG01255.hp1 HG01257.hp1 HG01261.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01516.hp2 HG01934.hp2 HG01981.hp2 HG01993.hp1 HG02055.hp2 HG02109.hp2 HG02258.hp2 HG02559.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02698.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG03130.hp1 HG03209.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03704.hp2 HG03831.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18947.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18985.hp2 NA18998.hp2 NA19030.hp1 NA19030.hp2 NA19054.hp2 NA19057.hp2 NA19066.hp1 NA19090.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0001c0008 a0001c0010 others(4): Show a0001c0005 a0001c0008 a0001c0010 a0002c0009 a0002c0011 a0002c0012 a0002c0017	a0001c0005t0001 a0001c0005t0002 a0001c0005t0004 others(23): Show a0001c0005t0001 a0001c0005t0002 a0001c0005t0004 a0001c0005t0006 a0001c0005t0014 a0001c0005t0024 a0001c0005t0027 a0001c0005t0039 a0001c0008t0001 a0001c0008t0002 a0001c0008t0004 a0001c0008t0006 a0001c0008t0042 a0001c0008t0047 a0001c0010t0002 a0001c0010t0006 a0001c0010t0018 a0002c0009t0002 a0002c0009t0006 a0002c0009t0014 a0002c0011t0002 a0002c0011t0006 a0002c0011t0018 a0002c0011t0043 a0002c0012t0014 a0002c0017t0014	a0001c0005t0001g0209 a0001c0005t0002g0024 a0001c0005t0002g0028 others(69): Show a0001c0005t0001g0209 a0001c0005t0002g0024 a0001c0005t0002g0028 a0001c0005t0002g0033 a0001c0005t0002g0046 a0001c0005t0002g0048 a0001c0005t0002g0103 a0001c0005t0002g0156 a0001c0005t0002g0174 a0001c0005t0002g0194 a0001c0005t0002g0198 a0001c0005t0002g0199 a0001c0005t0002g0203 a0001c0005t0002g0205 a0001c0005t0002g0210 a0001c0005t0002g0215 a0001c0005t0002g0220 a0001c0005t0002g0248 a0001c0005t0002g0250 a0001c0005t0002g0310 a0001c0005t0002g0313 a0001c0005t0004g0352 a0001c0005t0004g0353 a0001c0005t0004g0354 a0001c0005t0006g0372 a0001c0005t0006g0374 a0001c0005t0006g0379 a0001c0005t0014g0309 a0001c0005t0024g0160 a0001c0005t0027g0017 a0001c0005t0039g0298 a0001c0008t0001g0100 a0001c0008t0002g0110 a0001c0008t0002g0231 a0001c0008t0002g0304 a0001c0008t0002g0317 a0001c0008t0004g0399 a0001c0008t0006g0327 a0001c0008t0006g0348 a0001c0008t0006g0349 a0001c0008t0006g0357 a0001c0008t0006g0384 a0001c0008t0006g0386 a0001c0008t0006g0387 a0001c0008t0006g0388 a0001c0008t0006g0391 a0001c0008t0042g0344 a0001c0008t0047g0351 a0001c0010t0002g0069 a0001c0010t0002g0136 a0001c0010t0002g0137 a0001c0010t0002g0236 a0001c0010t0006g0334 a0001c0010t0006g0403 a0001c0010t0018g0144 a0002c0009t0002g0045 a0002c0009t0002g0054 a0002c0009t0002g0090 a0002c0009t0002g0208 a0002c0009t0002g0282 a0002c0009t0002g0302 a0002c0009t0002g0306 a0002c0009t0006g0383 a0002c0009t0014g0022 a0002c0011t0002g0019 a0002c0011t0002g0131 a0002c0011t0006g0343 a0002c0011t0018g0025 a0002c0011t0043g0401 a0002c0012t0014g0015 a0002c0012t0014g0047 a0002c0017t0014g0086	72	408	0.1765	0	c.124 others(6): Show c.1240-5C>G		ADA2	ENSG00000093072.19	transcript	ENST00000399837.8	protein_coding	8/9					chr22	TogoVar
ADA2_chr22_17173790_17224435	17188382	CTTGGCGG others(246): Show CTTGGCGGGGATCATCAGAGCTTCCTTGTAGTCATGCAAGGAGTGGCCAG TGTCCTCATGCCCCACCTGCAGGACAGAGAGGGACAGGGAGGTGTCTGCA GGGCGCATGCCTCACTTGCTGATGGCGCGCCCTGGAGCCTGTGCACACCC TTCCTTGTACCCTGCCACCACTGCCGGGACCTTTGTCACACAGCCTTTTA AGAATGACCAGGAGCAGGCCAGGCGTGGTGGCTCACACCTGTAATCCCAG CACT	C C	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG02486.hp1 HG02486.hp1	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0045 a0005c0016t0045	a0005c0016t0045g0341 a0005c0016t0045g0341	1	408	0.0025	-253	c.973 others(12): Show c.973-188_1037del	p.Val others(5): Show p.Val325fs	ADA2	ENSG00000093072.19	transcript	ENST00000399837.8	protein_coding	7/10	1163/4355	973/1536	325/511		chr22	TogoVar
ADA2_chr22_17173790_17224435	17207064	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0029 a0002c0002t0003g0029	1	408	0.0025	0	c.542 others(5): Show c.542+7A>G		ADA2	ENSG00000093072.19	transcript	ENST00000399837.8	protein_coding	3/9					chr22	TogoVar
ADAD2_chr16_84186157_84202166	84195192	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01891.hp1 HG02615.hp1 HG03098.hp1 others(1): Show HG01891.hp1 HG02615.hp1 HG03098.hp1 HG03486.hp2	a0006 a0010 a0006 a0010	a0006c0016 a0006c0027 a0010c0040 a0006c0016 a0006c0027 a0010c0040	a0006c0016t0007 a0006c0027t0007 a0010c0040t0007 a0006c0016t0007 a0006c0027t0007 a0010c0040t0007	a0006c0016t0007g0063 a0006c0016t0007g0065 a0006c0027t0007g0047 others(1): Show a0006c0016t0007g0063 a0006c0016t0007g0065 a0006c0027t0007g0047 a0010c0040t0007g0061	4	470	0.0085	0	c.731 others(3): Show c.731G>A	p.Arg others(6): Show p.Arg244Lys	ADAD2	ENSG00000140955.11	transcript	ENST00000315906.10	protein_coding	4/10	805/2018	731/1752	244/583		chr16	TogoVar
ADAD2_chr16_84186157_84202166	84195703	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00408.hp2 NA18747.hp1 NA19086.hp2 others(1): Show HG00408.hp2 NA18747.hp1 NA19086.hp2 NA19091.hp2	a0001 a0011 a0001 a0011	a0001c0007 a0011c0036 a0001c0007 a0011c0036	a0001c0007t0001 a0011c0036t0001 a0001c0007t0001 a0011c0036t0001	a0001c0007t0001g0019 a0011c0036t0001g0019 a0001c0007t0001g0019 a0011c0036t0001g0019	4	470	0.0085	0	c.105 others(6): Show c.1052+6C>G		ADAD2	ENSG00000140955.11	transcript	ENST00000315906.10	protein_coding	6/9					chr16	TogoVar
ADAD2_chr16_84186157_84202166	84195810	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00639.hp1 HG02258.hp1 HG02717.hp1 others(2): Show HG00639.hp1 HG02258.hp1 HG02717.hp1 HG02886.hp2 HG03540.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0016 a0001c0011t0001g0016	5	470	0.0106	0	c.105 others(6): Show c.1053-5C>T		ADAD2	ENSG00000140955.11	transcript	ENST00000315906.10	protein_coding	6/9					chr16	TogoVar
ADAD2_chr16_84186157_84202166	84196770	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00280.hp2 HG00408.hp2 others(253): Show HG00099.hp2 HG00280.hp2 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00738.hp2 HG01070.hp2 HG01071.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01261.hp2 HG01358.hp2 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01978.hp1 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp2 NA18954.hp1 NA18955.hp1 NA18956.hp1 NA18960.hp2 NA18963.hp1 NA18965.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp2 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18994.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19057.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19090.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp1	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0016 a0017 a0018	a0001c0002 a0001c0004 a0001c0007 others(26): Show a0001c0002 a0001c0004 a0001c0007 a0001c0011 a0001c0017 a0001c0021 a0001c0024 a0001c0035 a0002c0005 a0002c0008 a0002c0022 a0002c0037 a0002c0038 a0003c0001 a0003c0015 a0003c0034 a0004c0009 a0005c0010 a0006c0016 a0006c0027 a0007c0014 a0008c0018 a0009c0020 a0010c0040 a0011c0036 a0012c0032 a0016c0028 a0017c0025 a0018c0026	a0001c0002t0001 a0001c0002t0010 a0001c0004t0001 others(35): Show a0001c0002t0001 a0001c0002t0010 a0001c0004t0001 a0001c0004t0003 a0001c0004t0004 a0001c0004t0009 a0001c0007t0001 a0001c0007t0004 a0001c0011t0001 a0001c0017t0001 a0001c0021t0001 a0001c0024t0004 a0001c0035t0001 a0002c0005t0001 a0002c0005t0002 a0002c0005t0003 a0002c0008t0002 a0002c0022t0002 a0002c0037t0002 a0002c0038t0002 a0003c0001t0001 a0003c0001t0006 a0003c0015t0001 a0003c0034t0001 a0004c0009t0002 a0005c0010t0006 a0006c0016t0007 a0006c0027t0007 a0007c0014t0001 a0008c0018t0003 a0008c0018t0004 a0009c0020t0003 a0010c0040t0007 a0011c0036t0001 a0012c0032t0001 a0016c0028t0001 a0017c0025t0001 a0018c0026t0001	a0001c0002t0001g0008 a0001c0002t0010g0008 a0001c0004t0001g0010 others(67): Show a0001c0002t0001g0008 a0001c0002t0010g0008 a0001c0004t0001g0010 a0001c0004t0001g0057 a0001c0004t0001g0058 a0001c0004t0003g0006 a0001c0004t0003g0011 a0001c0004t0003g0032 a0001c0004t0004g0011 a0001c0004t0004g0012 a0001c0004t0004g0020 a0001c0004t0004g0024 a0001c0004t0004g0033 a0001c0004t0009g0010 a0001c0007t0001g0007 a0001c0007t0001g0019 a0001c0007t0004g0031 a0001c0011t0001g0016 a0001c0017t0001g0064 a0001c0017t0001g0068 a0001c0021t0001g0007 a0001c0024t0004g0012 a0001c0035t0001g0049 a0002c0005t0001g0046 a0002c0005t0002g0005 a0002c0005t0002g0037 a0002c0005t0003g0014 a0002c0008t0002g0009 a0002c0008t0002g0041 a0002c0008t0002g0042 a0002c0008t0002g0043 a0002c0022t0002g0025 a0002c0037t0002g0045 a0002c0038t0002g0038 a0003c0001t0001g0003 a0003c0001t0001g0004 a0003c0001t0001g0017 a0003c0001t0001g0021 a0003c0001t0001g0055 a0003c0001t0001g0056 a0003c0001t0001g0067 a0003c0001t0001g0069 a0003c0001t0001g0070 a0003c0001t0001g0072 a0003c0001t0001g0073 a0003c0001t0001g0074 a0003c0001t0001g0075 a0003c0001t0001g0076 a0003c0001t0001g0077 a0003c0001t0006g0013 a0003c0001t0006g0078 a0003c0015t0001g0066 a0003c0034t0001g0003 a0004c0009t0002g0022 a0004c0009t0002g0028 a0004c0009t0002g0044 a0005c0010t0006g0013 a0006c0016t0007g0063 a0006c0016t0007g0065 a0006c0027t0007g0047 a0007c0014t0001g0030 a0008c0018t0003g0048 a0008c0018t0004g0006 a0009c0020t0003g0006 a0010c0040t0007g0061 a0011c0036t0001g0019 a0012c0032t0001g0079 a0016c0028t0001g0059 a0017c0025t0001g0003 a0018c0026t0001g0003	256	470	0.5447	0	c.164 others(6): Show c.1647+3T>C		ADAD2	ENSG00000140955.11	transcript	ENST00000315906.10	protein_coding	9/9					chr16	TogoVar
ADAL_chr15_43325672_43359569	43333420	GA GA	G G	splice_region_variant splice_region_variant	LOW	HG00408.hp2 HG00438.hp2 HG00621.hp2 others(39): Show HG00408.hp2 HG00438.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00735.hp2 HG00741.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01358.hp2 HG01516.hp1 HG02132.hp2 HG02145.hp1 HG02165.hp2 HG02300.hp1 HG02735.hp1 HG02818.hp1 HG02970.hp2 HG03130.hp1 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03669.hp2 HG03831.hp2 NA18522.hp1 NA18747.hp1 NA18942.hp2 NA18978.hp2 NA18982.hp2 NA18987.hp2 NA18994.hp2 NA18997.hp2 NA18998.hp2 NA19005.hp2 NA19075.hp1 NA19078.hp2 NA19091.hp1 NA20805.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0001t0034 a0001c0002t0003 others(3): Show a0001c0001t0010 a0001c0001t0034 a0001c0002t0003 a0001c0002t0024 a0001c0002t0025 a0001c0002t0035	a0001c0001t0010g0001 a0001c0001t0034g0020 a0001c0002t0003g0002 others(24): Show a0001c0001t0010g0001 a0001c0001t0034g0020 a0001c0002t0003g0002 a0001c0002t0003g0006 a0001c0002t0003g0007 a0001c0002t0003g0008 a0001c0002t0003g0009 a0001c0002t0003g0032 a0001c0002t0003g0054 a0001c0002t0003g0056 a0001c0002t0003g0057 a0001c0002t0003g0062 a0001c0002t0003g0068 a0001c0002t0003g0070 a0001c0002t0003g0079 a0001c0002t0003g0081 a0001c0002t0003g0093 a0001c0002t0003g0094 a0001c0002t0003g0095 a0001c0002t0003g0116 a0001c0002t0003g0118 a0001c0002t0003g0120 a0001c0002t0003g0129 a0001c0002t0003g0145 a0001c0002t0024g0103 a0001c0002t0025g0055 a0001c0002t0035g0006	42	386	0.1088	-1	c.-16 others(5): Show c.-165delA		ADAL	ENSG00000168803.16	transcript	ENST00000562188.7	protein_coding	3/13				INFO_REALIGN_3_PRIME	chr15	TogoVar
ADAL_chr15_43325672_43359569	43340351	T T	C C	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00099.hp1 HG00280.hp1 HG00408.hp2 others(211): Show HG00099.hp1 HG00280.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG00642.hp2 HG00733.hp2 HG00741.hp1 HG01071.hp2 HG01074.hp1 HG01109.hp1 HG01167.hp2 HG01168.hp1 HG01255.hp1 HG01255.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp1 HG01981.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02486.hp2 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03927.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18946.hp1 NA18946.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18956.hp1 NA18957.hp2 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18973.hp2 NA18978.hp1 NA18979.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18998.hp1 NA19000.hp2 NA19004.hp2 NA19005.hp1 NA19007.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19054.hp1 NA19055.hp2 NA19058.hp2 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp2 NA19077.hp1 NA19078.hp1 NA19079.hp1 NA19081.hp2 NA19083.hp1 NA19084.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0003 a0001c0006 others(4): Show a0001c0001 a0001c0003 a0001c0006 a0001c0008 a0002c0004 a0003c0005 a0004c0007	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(25): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0022 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0003t0005 a0001c0006t0004 a0001c0008t0002 a0002c0004t0004 a0003c0005t0004 a0004c0007t0028	a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0005 others(121): Show a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0021 a0001c0001t0002g0027 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0156 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0184 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0213 a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0004g0025 a0001c0001t0004g0028 a0001c0001t0004g0050 a0001c0001t0004g0058 a0001c0001t0004g0059 a0001c0001t0004g0076 a0001c0001t0004g0077 a0001c0001t0004g0082 a0001c0001t0004g0087 a0001c0001t0004g0096 a0001c0001t0004g0097 a0001c0001t0004g0098 a0001c0001t0004g0108 a0001c0001t0004g0123 a0001c0001t0004g0131 a0001c0001t0004g0133 a0001c0001t0004g0137 a0001c0001t0005g0003 a0001c0001t0005g0154 a0001c0001t0005g0164 a0001c0001t0005g0165 a0001c0001t0005g0174 a0001c0001t0006g0001 a0001c0001t0006g0020 a0001c0001t0006g0045 a0001c0001t0006g0161 a0001c0001t0006g0185 a0001c0001t0007g0042 a0001c0001t0007g0153 a0001c0001t0007g0155 a0001c0001t0007g0173 a0001c0001t0007g0175 a0001c0001t0007g0192 a0001c0001t0007g0197 a0001c0001t0007g0198 a0001c0001t0007g0199 a0001c0001t0009g0016 a0001c0001t0009g0044 a0001c0001t0009g0157 a0001c0001t0009g0182 a0001c0001t0009g0189 a0001c0001t0010g0001 a0001c0001t0011g0020 a0001c0001t0011g0176 a0001c0001t0011g0177 a0001c0001t0011g0193 a0001c0001t0012g0207 a0001c0001t0012g0208 a0001c0001t0012g0210 a0001c0001t0013g0001 a0001c0001t0013g0211 a0001c0001t0014g0046 a0001c0001t0015g0022 a0001c0001t0017g0023 a0001c0001t0022g0138 a0001c0001t0026g0052 a0001c0001t0027g0209 a0001c0001t0029g0016 a0001c0001t0030g0001 a0001c0001t0031g0183 a0001c0001t0032g0196 a0001c0001t0033g0188 a0001c0001t0034g0020 a0001c0003t0005g0003 a0001c0003t0005g0162 a0001c0003t0005g0163 a0001c0006t0004g0112 a0001c0006t0004g0124 a0001c0008t0002g0043 a0002c0004t0004g0034 a0002c0004t0004g0067 a0002c0004t0004g0113 a0003c0005t0004g0022 a0003c0005t0004g0028 a0004c0007t0028g0051	214	386	0.5544	0	c.342 others(3): Show c.342T>C	p.Thr others(6): Show p.Thr114Thr	ADAL	ENSG00000168803.16	transcript	ENST00000562188.7	protein_coding	7/13	918/4268	342/1068	114/355		chr15	TogoVar
ADAL_chr15_43325672_43359569	43343078	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01081.hp2 HG01433.hp2 HG02300.hp2 HG01081.hp2 HG01433.hp2 HG02300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0100 a0001c0002t0001g0105 a0001c0002t0001g0142 a0001c0002t0001g0100 a0001c0002t0001g0105 a0001c0002t0001g0142	3	386	0.0078	0	c.425 others(5): Show c.425+3A>G		ADAL	ENSG00000168803.16	transcript	ENST00000562188.7	protein_coding	8/12					chr15	TogoVar
ADAM10_chr15_58583809_58754707	58621464	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02572.hp2 HG03041.hp1 HG03209.hp2 HG02572.hp2 HG03041.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0062 a0001c0001t0103 a0001c0001t0059 a0001c0001t0062 a0001c0001t0103	a0001c0001t0059g0325 a0001c0001t0062g0323 a0001c0001t0103g0324 a0001c0001t0059g0325 a0001c0001t0062g0323 a0001c0001t0103g0324	3	342	0.0088	0	c.151 others(6): Show c.1511+7T>C		ADAM10	ENSG00000137845.15	transcript	ENST00000260408.8	protein_coding	11/15					chr15	TogoVar
ADAM10_chr15_58583809_58754707	58633367	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0288 a0001c0001t0001g0288	1	342	0.0029	0	c.101 others(6): Show c.1013-8T>C		ADAM10	ENSG00000137845.15	transcript	ENST00000260408.8	protein_coding	8/15					chr15	TogoVar
ADAM11_chr17_44753988_44786846	44770048	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02809.hp1 HG02809.hp1	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0001 a0004c0013t0001	a0004c0013t0001g0015 a0004c0013t0001g0015	1	336	0.0030	0	c.381 others(3): Show c.381C>T	p.Thr others(6): Show p.Thr127Thr	ADAM11	ENSG00000073670.14	transcript	ENST00000200557.11	protein_coding	4/27	593/4614	381/2310	127/769		chr17	TogoVar

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