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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⚠️ 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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ACTN2_chr1_236681499_236769631	236709220	G G	GTATATA GTATATA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG03130.hp1 HG03490.hp1 others(4): Show HG02132.hp2 HG03130.hp1 HG03490.hp1 HG03492.hp2 HG03927.hp2 NA19003.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0010 a0001c0002t0002 others(1): Show a0001c0001t0003 a0001c0001t0010 a0001c0002t0002 a0001c0002t0007	a0001c0001t0003g0202 a0001c0001t0010g0045 a0001c0001t0010g0046 others(4): Show a0001c0001t0003g0202 a0001c0001t0010g0045 a0001c0001t0010g0046 a0001c0002t0002g0137 a0001c0002t0002g0194 a0001c0002t0002g0237 a0001c0002t0007g0241	7	344	0.0204	6	c.127 others(23): Show c.127-8607_127-8602dupTATATA	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236709220	G G	GTGTGTA GTGTGTA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02897.hp2 HG03098.hp1 others(1): Show HG02055.hp2 HG02897.hp2 HG03098.hp1 NA18522.hp2	a0001 a0008 a0001 a0008	a0001c0003 a0001c0011 a0008c0017 a0001c0003 a0001c0011 a0008c0017	a0001c0003t0002 a0001c0011t0004 a0001c0011t0005 others(1): Show a0001c0003t0002 a0001c0011t0004 a0001c0011t0005 a0008c0017t0024	a0001c0003t0002g0170 a0001c0011t0004g0101 a0001c0011t0005g0100 others(1): Show a0001c0003t0002g0170 a0001c0011t0004g0101 a0001c0011t0005g0100 a0008c0017t0024g0099	4	344	0.0116	6	c.127 others(23): Show c.127-8637_127-8636insGTGTAT	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236709255	T T	TACACAC TACACAC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00738.hp1 HG01123.hp1 others(32): Show HG00280.hp2 HG00738.hp1 HG01123.hp1 HG01175.hp1 HG01255.hp1 HG01496.hp1 HG01943.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02080.hp1 HG02132.hp1 HG02523.hp2 HG02615.hp1 HG02735.hp1 HG02738.hp2 HG03017.hp2 HG03239.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG03831.hp2 NA18949.hp1 NA18952.hp2 NA18983.hp1 NA18989.hp1 NA18989.hp2 NA19003.hp2 NA19005.hp1 NA19007.hp1 NA19063.hp1 NA19066.hp2 NA19068.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0002 a0002c0005 others(2): Show a0001c0001 a0001c0002 a0002c0005 a0002c0008 a0007c0023	a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 a0001c0001t0025 a0001c0002t0002 a0001c0002t0007 a0001c0002t0013 a0002c0005t0004 a0002c0008t0004 a0007c0023t0001	a0001c0001t0001g0031 a0001c0001t0001g0251 a0001c0001t0001g0253 others(32): Show a0001c0001t0001g0031 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0265 a0001c0001t0001g0276 a0001c0001t0001g0280 a0001c0001t0001g0285 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0320 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0333 a0001c0001t0003g0207 a0001c0001t0003g0249 a0001c0001t0003g0279 a0001c0001t0003g0299 a0001c0001t0003g0329 a0001c0001t0012g0337 a0001c0001t0025g0010 a0001c0002t0002g0016 a0001c0002t0002g0271 a0001c0002t0002g0314 a0001c0002t0007g0298 a0001c0002t0013g0239 a0002c0005t0004g0297 a0002c0005t0004g0305 a0002c0005t0004g0306 a0002c0008t0004g0296 a0007c0023t0001g0332	35	344	0.1017	6	c.127 others(23): Show c.127-8591_127-8586dupCACACA	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236709255	T T	TATATAC TATATAC	intron_variant intron_variant	MODIFIER	HG02523.hp1 NA19064.hp1 NA19085.hp1 HG02523.hp1 NA19064.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0236 a0001c0001t0001g0261 a0001c0001t0001g0190 a0001c0001t0001g0236 a0001c0001t0001g0261	3	344	0.0087	6	c.127 others(23): Show c.127-8602_127-8601insTATACA	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236709257	C C	CATATAT CATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01123.hp2 HG01433.hp1 others(19): Show HG00639.hp2 HG01123.hp2 HG01433.hp1 HG01884.hp1 HG01891.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG02148.hp1 HG02273.hp1 HG02622.hp2 HG02886.hp2 HG02965.hp2 HG03516.hp2 HG03704.hp1 HG04204.hp1 NA18747.hp2 NA18906.hp2 NA18960.hp1 NA18969.hp1 NA18995.hp1 NA19088.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0001c0006 a0001c0018 others(1): Show a0001c0003 a0001c0006 a0001c0018 a0003c0012	a0001c0003t0001 a0001c0003t0002 a0001c0003t0005 others(7): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0005 a0001c0003t0006 a0001c0003t0020 a0001c0003t0021 a0001c0006t0002 a0001c0006t0008 a0001c0018t0006 a0003c0012t0008	a0001c0003t0001g0129 a0001c0003t0001g0133 a0001c0003t0002g0051 others(19): Show a0001c0003t0001g0129 a0001c0003t0001g0133 a0001c0003t0002g0051 a0001c0003t0005g0047 a0001c0003t0005g0048 a0001c0003t0005g0050 a0001c0003t0006g0124 a0001c0003t0006g0126 a0001c0003t0006g0130 a0001c0003t0006g0131 a0001c0003t0006g0132 a0001c0003t0006g0134 a0001c0003t0006g0136 a0001c0003t0020g0122 a0001c0003t0021g0125 a0001c0006t0002g0049 a0001c0006t0002g0150 a0001c0006t0008g0127 a0001c0006t0008g0344 a0001c0018t0006g0123 a0003c0012t0008g0092 a0003c0012t0008g0098	22	344	0.0640	6	c.127 others(23): Show c.127-8600_127-8599insTATATA	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236709344	G G	GTATATA GTATATA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02717.hp1 HG03195.hp1 HG02109.hp2 HG02717.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0005 a0001c0001t0011 a0001c0004t0005 a0001c0001t0005 a0001c0001t0011 a0001c0004t0005	a0001c0001t0005g0055 a0001c0001t0011g0090 a0001c0004t0005g0065 a0001c0001t0005g0055 a0001c0001t0011g0090 a0001c0004t0005g0065	3	344	0.0087	6	c.127 others(23): Show c.127-8505_127-8500dupTATATA	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236709358	A A	ATATACG ATATACG	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG02895.hp1 HG01168.hp2 HG01169.hp2 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0015 a0001c0015t0016 a0001c0001t0015 a0001c0015t0016	a0001c0001t0015g0116 a0001c0015t0016g0113 a0001c0015t0016g0115 a0001c0001t0015g0116 a0001c0015t0016g0113 a0001c0015t0016g0115	3	344	0.0087	6	c.127 others(23): Show c.127-8500_127-8499insTATACG	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	1/20			chr1	TogoVar
ACTN2_chr1_236681499_236769631	236721022	G G	GTTTTTT GTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02109.hp2 HG02280.hp2 others(9): Show HG01884.hp2 HG02109.hp2 HG02280.hp2 HG02451.hp2 HG02886.hp1 HG02922.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG06807.hp1 NA18612.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0017 a0001c0002t0002 a0001c0004t0005 a0001c0007t0015	a0001c0001t0001g0148 a0001c0001t0004g0059 a0001c0001t0005g0055 others(9): Show a0001c0001t0001g0148 a0001c0001t0004g0059 a0001c0001t0005g0055 a0001c0001t0017g0097 a0001c0002t0002g0162 a0001c0002t0002g0232 a0001c0002t0002g0235 a0001c0004t0005g0056 a0001c0004t0005g0061 a0001c0004t0005g0077 a0001c0004t0005g0120 a0001c0007t0015g0096	12	344	0.0349	6	c.448 others(21): Show c.448+849_448+854dupTTTTTT	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	4/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236737297	G G	GTATATA GTATATA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03710.hp1 NA18941.hp1 others(3): Show HG03239.hp2 HG03710.hp1 NA18941.hp1 NA18942.hp1 NA19086.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0019 a0001c0002t0002 a0001c0001t0001 a0001c0001t0019 a0001c0002t0002	a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0145 others(3): Show a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0019g0250 a0001c0001t0019g0252 a0001c0002t0002g0165	6	344	0.0174	6	c.876 others(19): Show c.876+83_876+84insTATATA	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	9/20			chr1	TogoVar
ACTN2_chr1_236681499_236769631	236740526	C C	CATTTTT CATTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(91): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00438.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01255.hp1 HG01258.hp2 HG01361.hp1 HG01496.hp1 HG01928.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02080.hp1 HG02129.hp2 HG02273.hp2 HG02451.hp1 HG02615.hp1 HG02683.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG03017.hp2 HG03225.hp2 HG03239.hp2 HG03490.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG04115.hp1 HG04184.hp2 HG04204.hp2 NA18522.hp2 NA18747.hp1 NA18943.hp1 NA18944.hp1 NA18950.hp1 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18960.hp2 NA18964.hp1 NA18972.hp1 NA18973.hp1 NA18979.hp1 NA18983.hp2 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18998.hp2 NA19003.hp2 NA19005.hp1 NA19007.hp1 NA19011.hp1 NA19057.hp2 NA19062.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19077.hp2 NA19084.hp1 NA19085.hp2 NA19088.hp2 NA19089.hp1 NA20300.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0006 a0007 a0001 a0006 a0007	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0010 a0001c0015 a0001c0025 a0006c0022 a0007c0023	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(14): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0018 a0001c0001t0019 a0001c0001t0025 a0001c0002t0002 a0001c0002t0007 a0001c0003t0002 a0001c0004t0005 a0001c0007t0004 a0001c0010t0002 a0001c0015t0016 a0001c0025t0006 a0006c0022t0001 a0007c0023t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0011 others(91): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0042 a0001c0001t0001g0114 a0001c0001t0001g0159 a0001c0001t0001g0188 a0001c0001t0001g0219 a0001c0001t0001g0225 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0269 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0304 a0001c0001t0001g0307 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0338 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0003g0020 a0001c0001t0003g0143 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0207 a0001c0001t0003g0268 a0001c0001t0003g0272 a0001c0001t0003g0279 a0001c0001t0003g0284 a0001c0001t0003g0299 a0001c0001t0003g0324 a0001c0001t0003g0329 a0001c0001t0003g0339 a0001c0001t0003g0340 a0001c0001t0003g0343 a0001c0001t0004g0226 a0001c0001t0004g0293 a0001c0001t0004g0295 a0001c0001t0006g0135 a0001c0001t0018g0303 a0001c0001t0019g0250 a0001c0001t0019g0252 a0001c0001t0025g0010 a0001c0002t0002g0220 a0001c0002t0002g0255 a0001c0002t0002g0263 a0001c0002t0002g0271 a0001c0002t0002g0273 a0001c0002t0002g0278 a0001c0002t0002g0309 a0001c0002t0002g0310 a0001c0002t0002g0314 a0001c0002t0007g0298 a0001c0002t0007g0300 a0001c0003t0002g0170 a0001c0004t0005g0199 a0001c0007t0004g0112 a0001c0010t0002g0160 a0001c0015t0016g0113 a0001c0015t0016g0115 a0001c0025t0006g0121 a0006c0022t0001g0203 a0007c0023t0001g0332	94	344	0.2733	6	c.110 others(25): Show c.1107+1013_1107+1018dupATTTTT	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236761432	C C	CGTGTGT CGTGTGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01106.hp2 HG01109.hp1 others(9): Show HG00099.hp2 HG01106.hp2 HG01109.hp1 HG02486.hp2 HG02622.hp1 HG02698.hp2 HG02723.hp2 HG02886.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA19082.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0006 others(4): Show a0001c0001 a0001c0002 a0001c0006 a0001c0010 a0001c0013 a0002c0005 a0003c0012	a0001c0001t0001 a0001c0001t0011 a0001c0002t0002 others(5): Show a0001c0001t0001 a0001c0001t0011 a0001c0002t0002 a0001c0006t0002 a0001c0010t0002 a0001c0013t0023 a0002c0005t0004 a0003c0012t0008	a0001c0001t0001g0184 a0001c0001t0011g0036 a0001c0002t0002g0072 others(9): Show a0001c0001t0001g0184 a0001c0001t0011g0036 a0001c0002t0002g0072 a0001c0002t0002g0179 a0001c0002t0002g0233 a0001c0006t0002g0171 a0001c0010t0002g0164 a0001c0010t0002g0183 a0001c0013t0023g0095 a0002c0005t0004g0257 a0003c0012t0008g0092 a0003c0012t0008g0098	12	344	0.0349	6	c.252 others(23): Show c.2526+280_2526+285dupGTGTGT	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN4_chr19_38642649_38736589	38679568	C C	CGTGTGT CGTGTGT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02735.hp1 HG03139.hp1 others(1): Show HG01081.hp2 HG02735.hp1 HG03139.hp1 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0022 a0001c0001t0049 a0001c0002t0001 a0001c0001t0022 a0001c0001t0049 a0001c0002t0001	a0001c0001t0022g0198 a0001c0001t0022g0199 a0001c0001t0049g0076 others(1): Show a0001c0001t0022g0198 a0001c0001t0022g0199 a0001c0001t0049g0076 a0001c0002t0001g0037	4	314	0.0127	6	c.163 others(25): Show c.163-21005_163-21000dupGTGTGT	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
ACTN4_chr19_38642649_38736589	38692568	G G	GGCCTAA GGCCTAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03139.hp2 NA20300.hp2 HG02965.hp1 HG03139.hp2 NA20300.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0011 a0002c0008t0011	a0002c0008t0011g0278 a0002c0008t0011g0279 a0002c0008t0011g0280 a0002c0008t0011g0278 a0002c0008t0011g0279 a0002c0008t0011g0280	3	314	0.0096	6	c.163 others(23): Show c.163-8030_163-8029insCTAAGC	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
ACTN4_chr19_38642649_38736589	38728410	G G	GCTCCTC GCTCCTC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00733.hp1 HG00738.hp1 others(27): Show HG00280.hp2 HG00733.hp1 HG00738.hp1 HG01099.hp1 HG01106.hp2 HG01123.hp2 HG01515.hp2 HG01517.hp2 HG01891.hp2 HG02004.hp2 HG02135.hp2 HG02257.hp1 HG02559.hp2 HG02965.hp1 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03139.hp2 HG03453.hp1 HG03471.hp1 HG03688.hp2 HG03710.hp1 HG04199.hp2 NA18522.hp2 NA18939.hp2 NA18981.hp1 NA19010.hp1 NA19240.hp2 NA20300.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0004 a0001c0006 others(3): Show a0001c0002 a0001c0004 a0001c0006 a0001c0010 a0001c0011 a0002c0008	a0001c0002t0001 a0001c0002t0012 a0001c0002t0033 others(6): Show a0001c0002t0001 a0001c0002t0012 a0001c0002t0033 a0001c0004t0005 a0001c0004t0013 a0001c0006t0005 a0001c0010t0001 a0001c0011t0012 a0002c0008t0011	a0001c0002t0001g0044 a0001c0002t0001g0073 a0001c0002t0012g0003 others(26): Show a0001c0002t0001g0044 a0001c0002t0001g0073 a0001c0002t0012g0003 a0001c0002t0012g0301 a0001c0002t0033g0300 a0001c0004t0005g0095 a0001c0004t0005g0225 a0001c0004t0005g0227 a0001c0004t0005g0229 a0001c0004t0005g0230 a0001c0004t0005g0231 a0001c0004t0005g0232 a0001c0004t0005g0240 a0001c0004t0005g0242 a0001c0004t0005g0243 a0001c0004t0005g0244 a0001c0004t0005g0245 a0001c0004t0005g0246 a0001c0004t0013g0228 a0001c0004t0013g0235 a0001c0004t0013g0236 a0001c0004t0013g0241 a0001c0006t0005g0237 a0001c0010t0001g0134 a0001c0010t0001g0292 a0001c0011t0012g0291 a0002c0008t0011g0278 a0002c0008t0011g0279 a0002c0008t0011g0280	30	314	0.0955	6	c.241 others(23): Show c.2418+419_2418+424dupTCCTCC	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding	19/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
ACTN4_chr19_38642649_38736589	38736034	G G	GCAGGTC GCAGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp2 HG01517.hp2 HG02135.hp2 others(4): Show HG01515.hp2 HG01517.hp2 HG02135.hp2 HG02293.hp1 HG03491.hp2 NA18966.hp2 NA19010.hp1	a0001 a0001	a0001c0004 a0001c0006 a0001c0004 a0001c0006	a0001c0004t0005 a0001c0004t0013 a0001c0006t0046 others(1): Show a0001c0004t0005 a0001c0004t0013 a0001c0006t0046 a0001c0006t0047	a0001c0004t0005g0225 a0001c0004t0005g0229 a0001c0004t0005g0233 others(4): Show a0001c0004t0005g0225 a0001c0004t0005g0229 a0001c0004t0005g0233 a0001c0004t0005g0246 a0001c0004t0013g0228 a0001c0006t0046g0238 a0001c0006t0047g0239	7	314	0.0223	6	c.66 others(17): Show c.6602_*6603insCAGGTC	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4446		chr19	TogoVar
ACTR10_chr14_58195149_58240636	58210123	A A	ATATCTT ATATCTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02145.hp2 HG02630.hp1 others(5): Show HG01884.hp2 HG02145.hp2 HG02630.hp1 HG02818.hp1 HG02965.hp2 HG03225.hp1 HG03486.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0014 a0001c0001t0017 others(2): Show a0001c0001t0006 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0026	a0001c0001t0006g0019 a0001c0001t0014g0182 a0001c0001t0014g0183 others(4): Show a0001c0001t0006g0019 a0001c0001t0014g0182 a0001c0001t0014g0183 a0001c0001t0017g0020 a0001c0001t0018g0019 a0001c0001t0018g0185 a0001c0001t0026g0184	8	322	0.0248	6	c.342 others(23): Show c.342+1017_342+1022dupTATCTT	ACTR10	ENSG00000131966.14	transcript	ENST00000254286.9	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
ACTR10_chr14_58195149_58240636	58230101	G G	GGGAGTT GGGAGTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG00673.hp1 others(53): Show HG00423.hp2 HG00544.hp1 HG00673.hp1 HG01261.hp1 HG01358.hp1 HG01496.hp1 HG01496.hp2 HG01928.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02027.hp2 HG02040.hp1 HG02071.hp1 HG02083.hp1 HG02135.hp2 HG02165.hp2 HG02273.hp1 HG02293.hp2 HG02602.hp1 HG02698.hp1 HG02717.hp1 HG02735.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03704.hp1 HG03927.hp1 HG04115.hp2 HG04199.hp1 NA18612.hp1 NA18747.hp1 NA18939.hp2 NA18944.hp2 NA18949.hp1 NA18955.hp2 NA18957.hp2 NA18960.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18981.hp2 NA18990.hp2 NA18992.hp1 NA18995.hp1 NA18997.hp2 NA18999.hp1 NA19002.hp2 NA19006.hp2 NA19070.hp1 NA19076.hp2 NA19078.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0011 others(5): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0021 a0001c0002t0002 a0001c0002t0004	a0001c0001t0002g0005 a0001c0001t0002g0022 a0001c0001t0002g0023 others(48): Show a0001c0001t0002g0005 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0195 a0001c0001t0002g0197 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0209 a0001c0001t0002g0214 a0001c0001t0002g0217 a0001c0001t0002g0232 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0242 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0256 a0001c0001t0002g0265 a0001c0001t0004g0022 a0001c0001t0004g0024 a0001c0001t0004g0027 a0001c0001t0004g0030 a0001c0001t0004g0190 a0001c0001t0004g0196 a0001c0001t0004g0210 a0001c0001t0004g0245 a0001c0001t0011g0193 a0001c0001t0011g0234 a0001c0001t0011g0271 a0001c0001t0012g0240 a0001c0001t0012g0241 a0001c0001t0015g0233 a0001c0001t0015g0235 a0001c0001t0021g0189 a0001c0002t0002g0029 a0001c0002t0002g0206 a0001c0002t0002g0243 a0001c0002t0002g0244 a0001c0002t0004g0029 a0001c0002t0004g0257 a0001c0002t0004g0266	56	322	0.1739	6	c.789 others(21): Show c.789-298_789-297insGGAGTT	ACTR10	ENSG00000131966.14	transcript	ENST00000254286.9	protein_coding	10/12			chr14	TogoVar
ACTR2_chr2_65222831_65276253	65225849	A A	ATTTTTT ATTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02818.hp1 HG03491.hp2 others(4): Show HG02559.hp1 HG02818.hp1 HG03491.hp2 HG03492.hp2 HG03654.hp1 NA20300.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0013 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0013 a0001c0001t0020	a0001c0001t0002g0258 a0001c0001t0005g0247 a0001c0001t0005g0248 others(3): Show a0001c0001t0002g0258 a0001c0001t0005g0247 a0001c0001t0005g0248 a0001c0001t0005g0249 a0001c0001t0013g0040 a0001c0001t0020g0265	7	326	0.0215	6	c.-20 others(17): Show c.-2061_-2060insTTTTTT	ACTR2	ENSG00000138071.15	transcript	ENST00000260641.10	protein_coding		1981		chr2	TogoVar
ACTR2_chr2_65222831_65276253	65267862	C C	CTTTTTT CTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00609.hp1 HG01261.hp1 others(12): Show HG00280.hp1 HG00609.hp1 HG01261.hp1 HG01496.hp1 HG01934.hp2 HG01943.hp2 HG02922.hp1 HG02965.hp2 HG03209.hp2 NA18522.hp1 NA18990.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0001c0001t0002 a0001c0001t0003 a0001c0001t0012	a0001c0001t0002g0219 a0001c0001t0002g0238 a0001c0001t0002g0255 others(11): Show a0001c0001t0002g0219 a0001c0001t0002g0238 a0001c0001t0002g0255 a0001c0001t0002g0258 a0001c0001t0003g0076 a0001c0001t0003g0180 a0001c0001t0003g0182 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0188 a0001c0001t0003g0190 a0001c0001t0003g0194 a0001c0001t0003g0197 a0001c0001t0012g0033	15	326	0.0460	6	c.101 others(23): Show c.1015-679_1015-674dupTTTTTT	ACTR2	ENSG00000138071.15	transcript	ENST00000260641.10	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACTR3B_chr7_152754752_152860378	152785376	T T	TGAGAGA TGAGAGA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01952.hp1 HG02145.hp1 others(7): Show HG01934.hp2 HG01952.hp1 HG02145.hp1 HG02615.hp1 HG02622.hp1 HG03098.hp2 HG03209.hp1 HG03490.hp1 HG04199.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0298 others(7): Show a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0304 a0001c0001t0002g0158 a0001c0001t0002g0172 a0001c0001t0002g0177 a0001c0001t0002g0178	10	310	0.0323	6	c.100 others(23): Show c.100+2137_100+2138insAGAGAG	ACTR3B	ENSG00000133627.18	transcript	ENST00000256001.13	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
ACTR3B_chr7_152754752_152860378	152789023	A A	AAACAAC AAACAAC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00544.hp1 others(103): Show HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00609.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01106.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01243.hp2 HG01255.hp2 HG01346.hp1 HG01346.hp2 HG01978.hp2 HG02027.hp1 HG02055.hp1 HG02071.hp1 HG02074.hp2 HG02083.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02165.hp1 HG02165.hp2 HG02280.hp1 HG02300.hp1 HG02523.hp1 HG02559.hp1 HG02572.hp2 HG02615.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02818.hp2 HG02965.hp2 HG03017.hp2 HG03139.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03490.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03927.hp2 HG04204.hp1 NA18522.hp2 NA18939.hp1 NA18940.hp2 NA18942.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp2 NA18956.hp2 NA18957.hp1 NA18960.hp1 NA18971.hp1 NA18978.hp2 NA18980.hp1 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18988.hp1 NA18988.hp2 NA18989.hp2 NA18990.hp2 NA18991.hp2 NA18993.hp2 NA18995.hp2 NA19002.hp1 NA19005.hp1 NA19007.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19060.hp1 NA19062.hp1 NA19067.hp1 NA19070.hp1 NA19074.hp2 NA19077.hp1 NA19079.hp1 NA19087.hp2 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0010	a0001c0001t0001g0200 a0001c0001t0001g0213 a0001c0001t0001g0214 others(103): Show a0001c0001t0001g0200 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0234 a0001c0001t0001g0241 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0264 a0001c0001t0001g0267 a0001c0001t0001g0278 a0001c0001t0001g0282 a0001c0001t0001g0287 a0001c0001t0001g0305 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0021 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0069 a0001c0001t0002g0071 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0081 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0007g0041 a0001c0001t0007g0059 a0001c0001t0010g0228	106	310	0.3419	6	c.100 others(23): Show c.100+5805_100+5810dupCAACAA	ACTR3B	ENSG00000133627.18	transcript	ENST00000256001.13	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
ACTR3B_chr7_152754752_152860378	152812019	C C	CTTTTTT CTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02451.hp1 HG02895.hp1 others(3): Show HG00735.hp1 HG02451.hp1 HG02895.hp1 HG02897.hp2 HG02976.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0242 others(2): Show a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0242 a0001c0001t0001g0266 a0001c0001t0002g0002	6	310	0.0194	6	c.337 others(23): Show c.337-2507_337-2502dupTTTTTT	ACTR3B	ENSG00000133627.18	transcript	ENST00000256001.13	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
ACTR3C_chr7_150242212_150328545	150280798	A A	ATGTGTG ATGTGTG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp2 HG00621.hp2 others(25): Show HG00544.hp1 HG00558.hp2 HG00621.hp2 HG00741.hp1 HG02027.hp2 HG02071.hp1 HG02129.hp2 HG02622.hp2 HG02698.hp1 HG02976.hp1 HG03239.hp1 HG03579.hp1 HG03834.hp1 HG03942.hp2 NA18522.hp1 NA18612.hp2 NA18970.hp1 NA18971.hp1 NA18977.hp2 NA18978.hp1 NA19007.hp1 NA19009.hp2 NA19043.hp1 NA19060.hp1 NA19066.hp2 NA19068.hp2 NA19084.hp1 NA19090.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0003c0003t0001 a0003c0003t0002 a0004c0004t0001 a0004c0004t0002	a0001c0001t0001g0182 a0001c0001t0001g0207 a0001c0001t0001g0208 others(25): Show a0001c0001t0001g0182 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0223 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0235 a0001c0001t0002g0232 a0001c0001t0002g0265 a0002c0002t0001g0048 a0002c0002t0001g0123 a0002c0002t0001g0239 a0002c0002t0001g0240 a0003c0003t0001g0095 a0003c0003t0001g0136 a0003c0003t0001g0177 a0003c0003t0001g0179 a0003c0003t0001g0186 a0003c0003t0001g0189 a0003c0003t0002g0187 a0003c0003t0002g0212 a0004c0004t0001g0051 a0004c0004t0001g0053 a0004c0004t0001g0054 a0004c0004t0001g0234 a0004c0004t0001g0237 a0004c0004t0001g0238 a0004c0004t0002g0236	28	294	0.0952	6	c.564 others(23): Show c.564+3949_564+3954dupCACACA	ACTR3C	ENSG00000106526.12	transcript	ENST00000683684.1	protein_coding	6/7			chr7	TogoVar
ACTR3C_chr7_150242212_150328545	150280818	G G	GTGTATA GTGTATA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02145.hp2 HG02257.hp2 others(3): Show HG02109.hp2 HG02145.hp2 HG02257.hp2 HG03098.hp2 HG03195.hp1 HG03704.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002	a0001c0001t0002g0088 a0002c0002t0001g0014 a0002c0002t0001g0114 others(3): Show a0001c0001t0002g0088 a0002c0002t0001g0014 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0192 a0002c0002t0002g0112	6	294	0.0204	6	c.564 others(23): Show c.564+3934_564+3935insTATACA	ACTR3C	ENSG00000106526.12	transcript	ENST00000683684.1	protein_coding	6/7			chr7	TogoVar
ACTR3_chr2_113885089_113967596	113890251	G G	GGCAGCA GGCAGCA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18945.hp2 NA18981.hp1 NA18992.hp1 others(2): Show NA18945.hp2 NA18981.hp1 NA18992.hp1 NA19005.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0025 a0001c0001t0011g0291 a0001c0001t0011g0306 others(1): Show a0001c0001t0011g0025 a0001c0001t0011g0291 a0001c0001t0011g0306 a0001c0001t0011g0312	5	390	0.0128	6	c.-18 others(13): Show c.-18_-13dupCAGCAG	ACTR3	ENSG00000115091.12	transcript	ENST00000263238.7	protein_coding	1/12	12	INFO_REALIGN_3_PRIME	chr2	TogoVar
ACTR5_chr20_38743460_38777520	38776911	T T	TTGTGTG TTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01928.hp2 HG01934.hp1 others(15): Show HG01069.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG02055.hp2 HG02258.hp1 HG02602.hp2 NA18612.hp1 NA18943.hp1 NA18970.hp2 NA18984.hp2 NA18988.hp2 NA18992.hp2 NA18994.hp1 NA19010.hp1 NA19057.hp2 NA19064.hp1 NA19068.hp1	a0002 a0004 a0007 a0002 a0004 a0007	a0002c0003 a0004c0006 a0007c0009 a0002c0003 a0004c0006 a0007c0009	a0002c0003t0003 a0002c0003t0007 a0004c0006t0003 others(1): Show a0002c0003t0003 a0002c0003t0007 a0004c0006t0003 a0007c0009t0001	a0002c0003t0003g0005 a0002c0003t0003g0051 a0002c0003t0003g0130 others(5): Show a0002c0003t0003g0005 a0002c0003t0003g0051 a0002c0003t0003g0130 a0002c0003t0003g0131 a0002c0003t0007g0005 a0004c0006t0003g0005 a0007c0009t0001g0123 a0007c0009t0001g0124	18	366	0.0492	6	c.50 others(17): Show c.5095_*5096insTGTGTG	ACTR5	ENSG00000101442.10	transcript	ENST00000243903.6	protein_coding		4392		chr20	TogoVar
ACTR6_chr12_100195815_100229424	100198756	T T	TACACAC TACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG02129.hp2 HG02647.hp1 others(1): Show HG00642.hp1 HG02129.hp2 HG02647.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0112 a0001c0001t0001g0116 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0112 a0001c0001t0001g0116 a0001c0001t0001g0144	4	242	0.0165	6	c.-20 others(17): Show c.-2096_-2095insACACAC	ACTR6	ENSG00000075089.10	transcript	ENST00000188312.7	protein_coding		2058		chr12	TogoVar
ACTR6_chr12_100195815_100229424	100200509	G G	GACACAC GACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02451.hp2 HG02486.hp2 others(10): Show HG02280.hp1 HG02451.hp2 HG02486.hp2 HG02572.hp2 HG02622.hp2 HG02717.hp2 HG02818.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03540.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0001t0001 a0001c0001t0002 a0001c0002t0002	a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0014 others(8): Show a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0046 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0002t0002g0035	13	242	0.0537	6	c.-34 others(15): Show c.-343_-342insACACAC	ACTR6	ENSG00000075089.10	transcript	ENST00000188312.7	protein_coding		305		chr12	TogoVar
ACTRT3_chr3_169761921_169774561	169770567	C C	CATAAAT CATAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	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 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00673.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01175.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02080.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03704.hp1 HG03710.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp1 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 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.hp1 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 NA18992.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA18998.hp2 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.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 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.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp2 NA21309.hp1	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0009	a0001c0001 a0002c0002 a0002c0004 others(2): Show a0001c0001 a0002c0002 a0002c0004 a0007c0009 a0009c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 a0002c0002t0004 a0002c0004t0001 a0007c0009t0001 a0009c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(23): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0002g0006 a0001c0001t0002g0030 a0001c0001t0003g0010 a0002c0002t0001g0004 a0002c0002t0001g0008 a0002c0002t0001g0037 a0002c0002t0001g0047 a0002c0002t0004g0031 a0002c0004t0001g0012 a0002c0004t0001g0032 a0007c0009t0001g0040 a0009c0007t0001g0039	218	418	0.5215	6	c.-10 others(17): Show c.-1048_-1047insATTTAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1007		chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169770567	C C	CGTAAAT CGTAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01243.hp2 HG01255.hp2 others(12): Show HG01167.hp2 HG01243.hp2 HG01255.hp2 HG02717.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02976.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03834.hp1 NA19043.hp2 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0016 a0003c0003t0001g0007 a0003c0003t0001g0009 others(1): Show a0001c0001t0001g0016 a0003c0003t0001g0007 a0003c0003t0001g0009 a0003c0003t0001g0021	15	418	0.0359	6	c.-10 others(17): Show c.-1048_-1047insATTTAC	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1007		chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169770598	C C	CATAAAT CATAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG00639.hp2 HG00673.hp2 others(33): Show HG00621.hp2 HG00639.hp2 HG00673.hp2 HG01109.hp1 HG01981.hp2 HG02132.hp1 HG02145.hp1 HG02155.hp1 HG02293.hp2 HG02451.hp2 HG02486.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02809.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp2 HG03486.hp2 HG03710.hp1 HG04184.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18963.hp2 NA18975.hp2 NA18979.hp2 NA19000.hp2 NA19001.hp2 NA19007.hp1 NA19011.hp1 NA19066.hp2 NA19090.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0004 a0001c0001 a0002c0002 a0002c0004	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0002c0002t0004 a0002c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0038 a0001c0001t0001g0043 others(8): Show a0001c0001t0001g0001 a0001c0001t0001g0038 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0003g0010 a0002c0002t0001g0004 a0002c0002t0001g0008 a0002c0002t0001g0037 a0002c0002t0004g0031 a0002c0004t0001g0012 a0002c0004t0001g0032	36	418	0.0861	6	c.-10 others(17): Show c.-1079_-1078insATTTAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1038		chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169770598	C C	CGTAAAT CGTAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG02922.hp2 HG02976.hp1 others(1): Show HG01243.hp2 HG02922.hp2 HG02976.hp1 HG03130.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0009 a0003c0003t0001g0009	4	418	0.0096	6	c.-10 others(17): Show c.-1079_-1078insATTTAC	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1038		chr3	TogoVar
ACVR1C_chr2_157521767_157633864	157588848	C C	CATATAT CATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01256.hp1 HG02071.hp2 others(13): Show HG01074.hp2 HG01256.hp1 HG02071.hp2 HG02083.hp1 HG02615.hp1 HG02818.hp1 HG02895.hp2 HG03239.hp1 HG03453.hp2 HG03540.hp1 HG04228.hp1 NA18990.hp1 NA18998.hp2 NA19064.hp2 NA20752.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0007 a0001c0007t0012 a0001c0007t0025 a0002c0003t0005 a0002c0003t0017	a0001c0001t0001g0151 a0001c0001t0001g0195 a0001c0001t0001g0211 others(13): Show a0001c0001t0001g0151 a0001c0001t0001g0195 a0001c0001t0001g0211 a0001c0001t0003g0163 a0001c0001t0004g0170 a0001c0002t0001g0055 a0001c0002t0001g0112 a0001c0002t0001g0119 a0001c0002t0003g0123 a0001c0002t0004g0113 a0001c0002t0004g0135 a0001c0002t0007g0072 a0001c0007t0012g0089 a0001c0007t0025g0084 a0002c0003t0005g0079 a0002c0003t0017g0214	16	216	0.0741	6	c.74- others(21): Show c.74-1437_74-1432dupATATAT	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding	1/8			chr2	TogoVar
ACVR1C_chr2_157521767_157633864	157629587	T T	TACACAC TACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00621.hp1 HG01358.hp1 others(14): Show HG00099.hp1 HG00621.hp1 HG01358.hp1 HG01361.hp1 HG01433.hp2 HG01978.hp2 HG02080.hp1 HG02080.hp2 HG02602.hp1 HG03239.hp1 HG03516.hp2 HG03710.hp1 HG03927.hp1 NA18971.hp1 NA19077.hp2 NA20752.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0022 a0001c0002t0001 a0001c0002t0003 a0002c0003t0009 a0002c0003t0010 a0002c0004t0002	a0001c0001t0001g0159 a0001c0001t0001g0193 a0001c0001t0001g0195 others(14): Show a0001c0001t0001g0159 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0003g0163 a0001c0001t0003g0176 a0001c0001t0004g0139 a0001c0001t0022g0168 a0001c0002t0001g0132 a0001c0002t0003g0062 a0002c0003t0009g0026 a0002c0003t0010g0031 a0002c0004t0002g0204	17	216	0.0787	6	c.-94 others(15): Show c.-944_-943insGTGTGT	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding		724		chr2	TogoVar
ACVR1_chr2_157731446_157881330	157826784	A A	AGGAAAG AGGAAAG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02559.hp2 HG02922.hp2 others(8): Show HG02258.hp1 HG02559.hp2 HG02922.hp2 HG03098.hp1 HG03195.hp1 HG03195.hp2 HG04228.hp1 HG06807.hp2 NA18906.hp1 NA19240.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 others(1): Show a0001c0002 a0001c0003 a0001c0004 a0001c0006	a0001c0002t0001 a0001c0002t0004 a0001c0003t0001 others(3): Show a0001c0002t0001 a0001c0002t0004 a0001c0003t0001 a0001c0003t0005 a0001c0004t0008 a0001c0006t0006	a0001c0002t0001g0031 a0001c0002t0004g0169 a0001c0002t0004g0170 others(8): Show a0001c0002t0001g0031 a0001c0002t0004g0169 a0001c0002t0004g0170 a0001c0003t0001g0019 a0001c0003t0001g0136 a0001c0003t0005g0007 a0001c0004t0008g0030 a0001c0006t0006g0102 a0001c0006t0006g0103 a0001c0006t0006g0121 a0001c0006t0006g0140	11	174	0.0632	6	c.-18 others(25): Show c.-182-8231_-182-8226dupCTTTCC	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	1/10			chr2	TogoVar
ACVR1_chr2_157731446_157881330	157855308	G G	GTATATA GTATATA	intron_variant intron_variant	MODIFIER	HG03098.hp2 NA18978.hp2 HG03098.hp2 NA18978.hp2	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0004 a0001c0006t0006 a0001c0002t0004 a0001c0006t0006	a0001c0002t0004g0172 a0001c0006t0006g0022 a0001c0002t0004g0172 a0001c0006t0006g0022	2	174	0.0115	6	c.-18 others(27): Show c.-183+20482_-183+20487dupTATATA	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	1/10			chr2	TogoVar
ACVR1_chr2_157731446_157881330	157858381	T T	TTTACCG TTTACCG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02004.hp1 HG02622.hp2 others(5): Show HG00735.hp1 HG02004.hp1 HG02622.hp2 HG03098.hp2 HG03927.hp2 NA18978.hp2 NA19075.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006	a0001c0001t0004 a0001c0001t0013 a0001c0002t0001 others(4): Show a0001c0001t0004 a0001c0001t0013 a0001c0002t0001 a0001c0002t0004 a0001c0005t0001 a0001c0005t0004 a0001c0006t0006	a0001c0001t0004g0164 a0001c0001t0013g0165 a0001c0001t0013g0166 others(5): Show a0001c0001t0004g0164 a0001c0001t0013g0165 a0001c0001t0013g0166 a0001c0002t0001g0024 a0001c0002t0004g0172 a0001c0005t0001g0157 a0001c0005t0004g0174 a0001c0006t0006g0022	8	174	0.0460	6	c.-18 others(27): Show c.-183+17409_-183+17414dupCGGTAA	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	1/10			chr2	TogoVar
ACVR1_chr2_157731446_157881330	157862422	T T	TACACAC TACACAC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp1 HG02040.hp1 others(12): Show HG00438.hp1 HG00558.hp1 HG02040.hp1 HG02135.hp1 HG02165.hp1 HG02257.hp1 HG02970.hp2 HG03209.hp1 HG03225.hp2 HG03516.hp2 HG03540.hp1 HG03654.hp2 NA18963.hp2 NA19030.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0004t0008 a0001c0005t0003	a0001c0001t0001g0088 a0001c0001t0001g0093 a0001c0001t0001g0108 others(12): Show a0001c0001t0001g0088 a0001c0001t0001g0093 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0002g0092 a0001c0001t0002g0129 a0001c0001t0007g0112 a0001c0002t0001g0038 a0001c0002t0001g0107 a0001c0002t0001g0146 a0001c0002t0003g0130 a0001c0002t0005g0001 a0001c0004t0008g0110 a0001c0004t0008g0111 a0001c0005t0003g0138	15	174	0.0862	6	c.-18 others(27): Show c.-183+13368_-183+13373dupGTGTGT	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	1/10			chr2	TogoVar
ACVR1_chr2_157731446_157881330	157876303	T T	TGCGGCG TGCGGCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00735.hp1 HG02004.hp1 HG02647.hp1 others(9): Show HG00735.hp1 HG02004.hp1 HG02647.hp1 HG02922.hp1 HG02965.hp2 HG03195.hp2 HG03453.hp1 HG03486.hp2 HG03927.hp2 NA18906.hp1 NA18978.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005	a0001c0001t0004 a0001c0001t0013 a0001c0002t0004 others(4): Show a0001c0001t0004 a0001c0001t0013 a0001c0002t0004 a0001c0002t0020 a0001c0003t0004 a0001c0004t0021 a0001c0005t0004	a0001c0001t0004g0164 a0001c0001t0013g0165 a0001c0001t0013g0166 others(9): Show a0001c0001t0004g0164 a0001c0001t0013g0165 a0001c0001t0013g0166 a0001c0002t0004g0169 a0001c0002t0004g0170 a0001c0002t0004g0172 a0001c0002t0004g0173 a0001c0002t0020g0163 a0001c0003t0004g0167 a0001c0003t0004g0168 a0001c0004t0021g0171 a0001c0005t0004g0174	12	174	0.0690	6	c.-69 others(15): Show c.-696_-691dupCGCCGC	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	1/11	76811		chr2	TogoVar
ACVR2A_chr2_147840029_147935822	147844409	T T	TGCCGCC TGCCGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG00673.hp1 HG00733.hp2 others(41): Show HG00609.hp1 HG00673.hp1 HG00733.hp2 HG01081.hp1 HG01106.hp1 HG01167.hp2 HG01169.hp1 HG01243.hp1 HG01255.hp1 HG01358.hp2 HG01516.hp2 HG01517.hp2 HG02027.hp2 HG02258.hp1 HG02486.hp2 HG02615.hp1 HG02717.hp2 HG02738.hp2 HG03017.hp1 HG03041.hp2 HG03139.hp2 HG03209.hp2 HG03490.hp2 HG03492.hp2 HG03654.hp2 HG03704.hp2 NA18612.hp2 NA18941.hp1 NA18943.hp1 NA18948.hp1 NA18949.hp2 NA18951.hp1 NA18957.hp1 NA18968.hp1 NA18971.hp1 NA18985.hp2 NA18988.hp2 NA18995.hp1 NA19003.hp2 NA19005.hp1 NA19065.hp2 NA19079.hp1 NA19081.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0002t0006 a0001c0002t0023 a0001c0002t0024 a0001c0005t0001	a0001c0001t0002g0317 a0001c0001t0003g0001 a0001c0001t0003g0002 others(33): Show a0001c0001t0002g0317 a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0003 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0194 a0001c0001t0003g0278 a0001c0001t0003g0280 a0001c0001t0003g0283 a0001c0001t0003g0292 a0001c0001t0003g0299 a0001c0001t0003g0301 a0001c0001t0003g0304 a0001c0001t0003g0306 a0001c0001t0003g0307 a0001c0001t0003g0310 a0001c0001t0003g0311 a0001c0001t0003g0312 a0001c0001t0003g0313 a0001c0001t0003g0314 a0001c0001t0003g0315 a0001c0001t0003g0316 a0001c0001t0004g0179 a0001c0001t0004g0266 a0001c0001t0004g0267 a0001c0001t0004g0272 a0001c0001t0007g0002 a0001c0001t0007g0279 a0001c0001t0007g0296 a0001c0001t0007g0298 a0001c0001t0007g0309 a0001c0002t0006g0176 a0001c0002t0023g0113 a0001c0002t0024g0148 a0001c0005t0001g0008	44	338	0.1302	6	c.-74 others(15): Show c.-744_-743insGCCGCC	ACVR2A	ENSG00000121989.15	transcript	ENST00000241416.12	protein_coding		619		chr2	TogoVar
ACVR2A_chr2_147840029_147935822	147845000	G G	GTTTTTT GTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp2 HG02523.hp2 HG02895.hp2 others(5): Show HG01256.hp2 HG02523.hp2 HG02895.hp2 HG02897.hp1 HG03139.hp2 NA18957.hp2 NA18988.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0006 a0001c0002t0025 a0001c0002t0001 a0001c0002t0006 a0001c0002t0025	a0001c0002t0001g0041 a0001c0002t0001g0075 a0001c0002t0001g0119 others(5): Show a0001c0002t0001g0041 a0001c0002t0001g0075 a0001c0002t0001g0119 a0001c0002t0006g0091 a0001c0002t0006g0120 a0001c0002t0006g0121 a0001c0002t0006g0176 a0001c0002t0025g0044	8	338	0.0237	6	c.-15 others(15): Show c.-153_-152insTTTTTT	ACVR2A	ENSG00000121989.15	transcript	ENST00000241416.12	protein_coding		28		chr2	TogoVar
ACVR2A_chr2_147840029_147935822	147845348	G G	GCCCCCC GCCCCCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00423.hp2 others(23): Show HG00140.hp1 HG00280.hp1 HG00423.hp2 HG00741.hp2 HG01256.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01978.hp2 HG02055.hp1 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02523.hp2 HG02698.hp1 HG02738.hp1 HG03209.hp1 HG03516.hp1 HG03831.hp1 HG04115.hp1 NA18951.hp2 NA18975.hp2 NA18981.hp1 NA18987.hp2 NA18989.hp1 NA19060.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0006 a0001c0002t0025 others(1): Show a0001c0002t0001 a0001c0002t0006 a0001c0002t0025 a0001c0002t0027	a0001c0002t0001g0004 a0001c0002t0001g0024 a0001c0002t0001g0025 others(23): Show a0001c0002t0001g0004 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0045 a0001c0002t0006g0004 a0001c0002t0006g0022 a0001c0002t0006g0023 a0001c0002t0025g0044 a0001c0002t0027g0039	26	338	0.0769	6	c.55+ others(19): Show c.55+148_55+153dupCCCCCC	ACVR2A	ENSG00000121989.15	transcript	ENST00000241416.12	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACVR2A_chr2_147840029_147935822	147881602	A A	AGTGTGT AGTGTGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01109.hp1 HG01168.hp1 others(7): Show HG00099.hp1 HG01109.hp1 HG01168.hp1 HG01243.hp2 HG01516.hp2 HG01517.hp2 HG02486.hp1 HG02615.hp1 HG06807.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0018 a0001c0002t0023 a0001c0001t0004 a0001c0001t0018 a0001c0002t0023	a0001c0001t0004g0011 a0001c0001t0004g0014 a0001c0001t0004g0265 others(6): Show a0001c0001t0004g0011 a0001c0001t0004g0014 a0001c0001t0004g0265 a0001c0001t0004g0266 a0001c0001t0004g0267 a0001c0001t0004g0268 a0001c0001t0004g0275 a0001c0001t0018g0011 a0001c0002t0023g0113	10	338	0.0296	6	c.56- others(23): Show c.56-14664_56-14659dupGTGTGT	ACVR2A	ENSG00000121989.15	transcript	ENST00000241416.12	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACVR2A_chr2_147840029_147935822	147890341	A A	AGTGTGT AGTGTGT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00438.hp2 others(32): Show HG00280.hp2 HG00408.hp1 HG00438.hp2 HG00609.hp2 HG01928.hp1 HG01943.hp1 HG01981.hp1 HG02055.hp1 HG02129.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG03139.hp2 HG03669.hp2 HG06807.hp1 NA18943.hp2 NA18944.hp1 NA18951.hp2 NA18962.hp1 NA18965.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18986.hp1 NA18991.hp2 NA18994.hp1 NA18999.hp2 NA19005.hp1 NA19006.hp2 NA19055.hp2 NA19066.hp1 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0007 a0001c0001 a0001c0002 a0003c0007	a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 others(5): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0002t0001 a0001c0002t0006 a0001c0002t0027 a0003c0007t0001	a0001c0001t0002g0151 a0001c0001t0002g0157 a0001c0001t0002g0158 others(32): Show a0001c0001t0002g0151 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0175 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0216 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0235 a0001c0001t0002g0251 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0317 a0001c0001t0004g0195 a0001c0001t0004g0265 a0001c0001t0008g0018 a0001c0001t0008g0124 a0001c0001t0009g0156 a0001c0002t0001g0020 a0001c0002t0001g0038 a0001c0002t0001g0070 a0001c0002t0001g0074 a0001c0002t0001g0087 a0001c0002t0001g0095 a0001c0002t0001g0149 a0001c0002t0006g0022 a0001c0002t0006g0083 a0001c0002t0006g0084 a0001c0002t0006g0120 a0001c0002t0006g0121 a0001c0002t0006g0176 a0001c0002t0006g0177 a0001c0002t0027g0039 a0003c0007t0001g0088	35	338	0.1036	6	c.56- others(21): Show c.56-5937_56-5932dupGTGTGT	ACVR2A	ENSG00000121989.15	transcript	ENST00000241416.12	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACVR2B_chr3_38448890_38498142	38451620	T T	TCAAAAA TCAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01070.hp2 HG01071.hp1 others(35): Show HG00639.hp1 HG01070.hp2 HG01071.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp2 HG02004.hp1 HG02015.hp2 HG02080.hp2 HG02132.hp2 HG02135.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02523.hp2 HG02615.hp2 HG02723.hp1 HG03098.hp1 HG03453.hp1 HG03516.hp1 HG03704.hp2 NA18906.hp2 NA18944.hp1 NA18945.hp2 NA18957.hp1 NA18960.hp1 NA18962.hp1 NA18974.hp1 NA18986.hp1 NA18995.hp2 NA19007.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19075.hp1 NA19079.hp2 NA19083.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0006 a0001c0001t0032 a0001c0001t0033 others(22): Show a0001c0001t0006 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0069 a0001c0001t0171 a0001c0001t0174 a0001c0001t0175 a0001c0001t0176 a0001c0001t0177 a0001c0001t0178 a0001c0001t0180 a0001c0001t0182 a0001c0001t0183 a0001c0001t0184 a0001c0001t0185 a0001c0001t0187 a0001c0001t0188 a0001c0001t0189 a0001c0003t0061 a0001c0003t0198 a0001c0004t0200	a0001c0001t0006g0002 a0001c0001t0032g0002 a0001c0001t0032g0126 others(26): Show a0001c0001t0006g0002 a0001c0001t0032g0002 a0001c0001t0032g0126 a0001c0001t0033g0002 a0001c0001t0034g0002 a0001c0001t0034g0128 a0001c0001t0058g0011 a0001c0001t0058g0125 a0001c0001t0059g0002 a0001c0001t0060g0002 a0001c0001t0060g0121 a0001c0001t0069g0131 a0001c0001t0171g0122 a0001c0001t0174g0011 a0001c0001t0175g0011 a0001c0001t0176g0011 a0001c0001t0177g0011 a0001c0001t0178g0002 a0001c0001t0180g0002 a0001c0001t0182g0127 a0001c0001t0183g0130 a0001c0001t0184g0002 a0001c0001t0185g0002 a0001c0001t0187g0129 a0001c0001t0188g0002 a0001c0001t0189g0002 a0001c0003t0061g0123 a0001c0003t0198g0124 a0001c0004t0200g0060	38	410	0.0927	6	c.-27 others(17): Show c.-2703_-2702insCAAAAA	ACVR2B	ENSG00000114739.14	transcript	ENST00000352511.5	protein_coding		2269		chr3	TogoVar
ACVRL1_chr12_51902504_51928361	51919363	C C	CTGTGTG CTGTGTG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01167.hp2 HG02074.hp2 others(16): Show HG01106.hp1 HG01167.hp2 HG02074.hp2 HG02273.hp2 HG02698.hp1 HG03225.hp1 HG03688.hp1 NA18747.hp2 NA18944.hp1 NA18964.hp2 NA18968.hp1 NA18990.hp1 NA18994.hp2 NA18995.hp1 NA19001.hp2 NA19011.hp1 NA19012.hp2 NA19090.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0017 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0017 a0001c0001t0025 a0001c0002t0023	a0001c0001t0002g0006 a0001c0001t0002g0066 a0001c0001t0003g0132 others(3): Show a0001c0001t0002g0006 a0001c0001t0002g0066 a0001c0001t0003g0132 a0001c0001t0017g0047 a0001c0001t0025g0047 a0001c0002t0023g0089	19	438	0.0434	6	c.137 others(23): Show c.1377+284_1377+289dupGTGTGT	ACVRL1	ENSG00000139567.13	transcript	ENST00000388922.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACY1_chr3_51978535_51994197	51981894	C C	CAAAAAA CAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp1 HG02723.hp2 HG03491.hp2 others(3): Show HG02602.hp1 HG02723.hp2 HG03491.hp2 HG03492.hp2 HG03688.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0031 a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0031	6	338	0.0178	6	c.-17 others(17): Show c.-1714_-1713insAAAAAA	ACY1	ENSG00000243989.9	transcript	ENST00000636358.2	protein_coding		1640		chr3	TogoVar
ACY1_chr3_51978535_51994197	51993837	T T	TCCTTGG TCCTTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00408.hp1 others(70): Show HG00099.hp2 HG00140.hp2 HG00408.hp1 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00609.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp2 HG02004.hp1 HG02004.hp2 HG02071.hp1 HG02080.hp1 HG02132.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02602.hp1 HG02602.hp2 HG02735.hp2 HG03017.hp1 HG03017.hp2 HG03492.hp1 HG03492.hp2 HG03669.hp2 HG03942.hp1 HG04184.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18946.hp2 NA18951.hp2 NA18956.hp1 NA18959.hp2 NA18967.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18974.hp2 NA18999.hp2 NA19003.hp1 NA19003.hp2 NA19011.hp1 NA19012.hp1 NA19056.hp2 NA19063.hp1 NA19088.hp2 NA20752.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0032 a0001c0001t0003g0001	73	338	0.2160	6	c.47 others(17): Show c.4762_*4763insCCTTGG	ACY1	ENSG00000243989.9	transcript	ENST00000636358.2	protein_coding		4641		chr3	TogoVar
ACYP1_chr14_75048243_75069024	75057964	C C	CAAAAAA CAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG00642.hp2 others(60): Show HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01109.hp2 HG01168.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01261.hp1 HG01346.hp1 HG01891.hp2 HG01981.hp1 HG02258.hp1 HG02258.hp2 HG02451.hp2 HG02559.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03139.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03490.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp2 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04199.hp2 NA18906.hp2 NA18955.hp2 NA19030.hp1 NA19043.hp2 NA19055.hp1 NA20129.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0009 others(25): Show a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0078 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0089 a0001c0001t0001g0090	63	322	0.1957	6	c.85- others(21): Show c.85-4311_85-4306dupTTTTTT	ACYP1	ENSG00000119640.9	transcript	ENST00000238618.8	protein_coding	2/2			chr14	TogoVar
ACYP1_chr14_75048243_75069024	75061076	T T	TCAACAA TCAACAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00735.hp1 HG01070.hp2 others(6): Show HG00639.hp2 HG00735.hp1 HG01070.hp2 HG01071.hp2 HG01109.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0022 a0001c0001t0001g0063 a0001c0001t0001g0009 a0001c0001t0001g0022 a0001c0001t0001g0063	9	322	0.0280	6	c.84+ others(21): Show c.84+2388_84+2393dupTTGTTG	ACYP1	ENSG00000119640.9	transcript	ENST00000238618.8	protein_coding	2/2			chr14	TogoVar

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