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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
HTR5A_chr7_155065324_155092392	155078751	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18993.hp1 NA18940.hp1 NA18993.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0095 a0001c0002t0001g0100 a0001c0002t0001g0095 a0001c0002t0001g0100	2	430	0.0047	11	c.742 others(28): Show c.742-5403_742-5393dupTTTTTTTTTTT	HTR5A	ENSG00000157219.5	transcript	ENST00000287907.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr7	TogoVar
HTR6_chr1_19659875_19685966	19663681	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0046 a0001c0001t0016g0046	1	400	0.0025	11	c.-20 others(22): Show c.-2073_-2072insTTTTTTTTTTT	HTR6	ENSG00000158748.4	transcript	ENST00000289753.2	protein_coding		1193		chr1	TogoVar
HTR7_chr10_90735823_90863039	90758344	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(280): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01081.hp1 HG01099.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG04115.hp2 HG04184.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18939.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18948.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19006.hp1 NA19006.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0005	a0001c0001 a0001c0003 a0001c0006 others(4): Show a0001c0001 a0001c0003 a0001c0006 a0001c0010 a0003c0009 a0004c0004 a0005c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(27): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0003t0006 a0001c0003t0007 a0001c0006t0002 a0001c0010t0002 a0003c0009t0001 a0004c0004t0001 a0005c0007t0002	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0010 others(275): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0158 a0001c0001t0001g0168 a0001c0001t0002g0277 a0001c0001t0002g0280 a0001c0001t0002g0282 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0300 a0001c0001t0002g0302 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0002g0334 a0001c0001t0002g0335 a0001c0001t0002g0337 a0001c0001t0002g0338 a0001c0001t0002g0339 a0001c0001t0002g0340 a0001c0001t0002g0341 a0001c0001t0002g0372 a0001c0001t0002g0377 a0001c0001t0002g0378 a0001c0001t0002g0379 a0001c0001t0002g0380 a0001c0001t0002g0381 a0001c0001t0002g0382 a0001c0001t0003g0156 a0001c0001t0003g0177 a0001c0001t0003g0194 a0001c0001t0003g0200 a0001c0001t0004g0211 a0001c0001t0004g0224 a0001c0001t0004g0225 a0001c0001t0004g0226 a0001c0001t0004g0227 a0001c0001t0004g0228 a0001c0001t0004g0229 a0001c0001t0004g0230 a0001c0001t0004g0231 a0001c0001t0004g0232 a0001c0001t0004g0233 a0001c0001t0004g0234 a0001c0001t0004g0235 a0001c0001t0004g0237 a0001c0001t0004g0238 a0001c0001t0004g0240 a0001c0001t0004g0241 a0001c0001t0004g0242 a0001c0001t0004g0243 a0001c0001t0004g0245 a0001c0001t0004g0246 a0001c0001t0004g0247 a0001c0001t0004g0248 a0001c0001t0004g0249 a0001c0001t0004g0250 a0001c0001t0004g0251 a0001c0001t0004g0252 a0001c0001t0004g0253 a0001c0001t0004g0254 a0001c0001t0004g0255 a0001c0001t0004g0256 a0001c0001t0004g0257 a0001c0001t0004g0258 a0001c0001t0004g0260 a0001c0001t0004g0261 a0001c0001t0004g0262 a0001c0001t0004g0263 a0001c0001t0004g0264 a0001c0001t0004g0265 a0001c0001t0004g0266 a0001c0001t0004g0269 a0001c0001t0004g0270 a0001c0001t0004g0271 a0001c0001t0004g0273 a0001c0001t0005g0294 a0001c0001t0005g0295 a0001c0001t0005g0336 a0001c0001t0005g0342 a0001c0001t0005g0346 a0001c0001t0005g0347 a0001c0001t0005g0348 a0001c0001t0005g0349 a0001c0001t0005g0350 a0001c0001t0005g0351 a0001c0001t0005g0352 a0001c0001t0005g0353 a0001c0001t0005g0354 a0001c0001t0005g0356 a0001c0001t0005g0357 a0001c0001t0005g0358 a0001c0001t0005g0359 a0001c0001t0005g0360 a0001c0001t0005g0361 a0001c0001t0005g0364 a0001c0001t0005g0365 a0001c0001t0005g0368 a0001c0001t0005g0369 a0001c0001t0005g0373 a0001c0001t0005g0374 a0001c0001t0005g0375 a0001c0001t0005g0376 a0001c0001t0006g0001 a0001c0001t0006g0002 a0001c0001t0006g0011 a0001c0001t0006g0012 a0001c0001t0006g0015 a0001c0001t0006g0016 a0001c0001t0006g0017 a0001c0001t0006g0018 a0001c0001t0006g0042 a0001c0001t0006g0046 a0001c0001t0006g0053 a0001c0001t0006g0054 a0001c0001t0006g0059 a0001c0001t0006g0060 a0001c0001t0006g0078 a0001c0001t0006g0089 a0001c0001t0006g0122 a0001c0001t0006g0188 a0001c0001t0007g0013 a0001c0001t0007g0020 a0001c0001t0007g0021 a0001c0001t0007g0022 a0001c0001t0007g0023 a0001c0001t0007g0024 a0001c0001t0007g0025 a0001c0001t0007g0026 a0001c0001t0007g0027 a0001c0001t0007g0043 a0001c0001t0007g0098 a0001c0001t0007g0132 a0001c0001t0007g0133 a0001c0001t0007g0141 a0001c0001t0008g0215 a0001c0001t0008g0216 a0001c0001t0008g0217 a0001c0001t0008g0218 a0001c0001t0008g0219 a0001c0001t0008g0220 a0001c0001t0008g0221 a0001c0001t0008g0222 a0001c0001t0008g0268 a0001c0001t0009g0006 a0001c0001t0009g0394 a0001c0001t0009g0395 a0001c0001t0009g0396 a0001c0001t0009g0397 a0001c0001t0009g0398 a0001c0001t0011g0317 a0001c0001t0011g0318 a0001c0001t0011g0366 a0001c0001t0013g0007 a0001c0001t0013g0008 a0001c0001t0013g0009 a0001c0001t0014g0281 a0001c0001t0014g0355 a0001c0001t0014g0363 a0001c0001t0016g0034 a0001c0001t0016g0151 a0001c0001t0018g0236 a0001c0001t0018g0272 a0001c0001t0019g0387 a0001c0001t0022g0075 a0001c0001t0023g0208 a0001c0001t0025g0210 a0001c0001t0026g0259 a0001c0001t0027g0276 a0001c0001t0029g0343 a0001c0001t0030g0386 a0001c0001t0031g0389 a0001c0003t0006g0190 a0001c0003t0006g0191 a0001c0003t0007g0139 a0001c0006t0002g0330 a0001c0010t0002g0385 a0003c0009t0001g0207 a0004c0004t0001g0064 a0005c0007t0002g0303	283	404	0.7005	11	c.540 others(28): Show c.540-8761_540-8751dupTTTTTTTTTTT	HTR7	ENSG00000148680.16	transcript	ENST00000336152.8	protein_coding	1/3			chr10	TogoVar
HTR7_chr10_90735823_90863039	90852202	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00609.hp2 HG00673.hp2 others(39): Show HG00423.hp2 HG00609.hp2 HG00673.hp2 HG01884.hp1 HG01891.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp1 HG02027.hp1 HG02135.hp2 HG02155.hp1 HG02280.hp1 HG02559.hp2 HG02622.hp1 HG02698.hp1 HG03130.hp2 HG03209.hp1 HG03225.hp2 HG03486.hp1 HG03688.hp2 HG04204.hp2 NA18906.hp2 NA18944.hp1 NA18950.hp1 NA18960.hp2 NA18973.hp2 NA18983.hp2 NA18989.hp2 NA18990.hp2 NA18993.hp2 NA18995.hp2 NA19055.hp2 NA19057.hp2 NA19058.hp2 NA19063.hp2 NA19064.hp1 NA19070.hp2 NA19079.hp2 NA19082.hp1 NA19090.hp1 NA20300.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 others(4): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0029 a0001c0001t0031	a0001c0001t0002g0367 a0001c0001t0002g0371 a0001c0001t0002g0378 others(39): Show a0001c0001t0002g0367 a0001c0001t0002g0371 a0001c0001t0002g0378 a0001c0001t0002g0379 a0001c0001t0002g0380 a0001c0001t0002g0381 a0001c0001t0002g0382 a0001c0001t0005g0279 a0001c0001t0005g0342 a0001c0001t0005g0344 a0001c0001t0005g0346 a0001c0001t0005g0347 a0001c0001t0005g0348 a0001c0001t0005g0349 a0001c0001t0005g0350 a0001c0001t0005g0351 a0001c0001t0005g0352 a0001c0001t0005g0353 a0001c0001t0005g0354 a0001c0001t0005g0356 a0001c0001t0005g0357 a0001c0001t0005g0358 a0001c0001t0005g0359 a0001c0001t0005g0360 a0001c0001t0005g0361 a0001c0001t0005g0364 a0001c0001t0005g0365 a0001c0001t0005g0368 a0001c0001t0005g0369 a0001c0001t0005g0373 a0001c0001t0005g0374 a0001c0001t0005g0375 a0001c0001t0005g0376 a0001c0001t0005g0383 a0001c0001t0011g0366 a0001c0001t0014g0281 a0001c0001t0014g0355 a0001c0001t0014g0363 a0001c0001t0015g0345 a0001c0001t0015g0362 a0001c0001t0029g0343 a0001c0001t0031g0389	42	404	0.1040	11	c.539 others(28): Show c.539+4920_539+4930dupTTTTTTTTTTT	HTR7	ENSG00000148680.16	transcript	ENST00000336152.8	protein_coding	1/3			chr10	TogoVar
HTRA1_chr10_122456553_122519907	122496224	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA19010.hp2 NA18977.hp2 NA19010.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0054 a0002c0003t0001g0086 a0002c0003t0001g0054 a0002c0003t0001g0086	2	362	0.0055	11	c.777 others(28): Show c.777+6598_777+6599insTTTTTTTTTTT	HTRA1	ENSG00000166033.13	transcript	ENST00000368984.8	protein_coding	3/8			chr10	TogoVar
HTRA1_chr10_122456553_122519907	122496225	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01071.hp2 HG01109.hp2 others(14): Show HG00099.hp2 HG01071.hp2 HG01109.hp2 HG01258.hp1 HG01517.hp2 HG02055.hp2 HG02615.hp2 HG02647.hp1 HG02886.hp1 HG02965.hp1 HG03098.hp2 HG03225.hp1 HG03239.hp2 HG03579.hp1 HG03669.hp1 HG04228.hp2 NA18969.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0002c0003t0001	a0001c0001t0001g0029 a0001c0001t0001g0043 a0001c0001t0001g0045 others(14): Show a0001c0001t0001g0029 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0090 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0153 a0001c0001t0001g0177 a0001c0001t0001g0196 a0001c0001t0001g0325 a0001c0002t0001g0223 a0001c0002t0001g0229 a0001c0002t0001g0237 a0001c0002t0001g0271 a0001c0004t0001g0312 a0002c0003t0001g0076	17	362	0.0470	11	c.777 others(28): Show c.777+6601_777+6602insTTTTTTTTTTT	HTRA1	ENSG00000166033.13	transcript	ENST00000368984.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
HTRA4_chr8_38969228_38993663	38976322	G G	GAATTGCT others(4): Show GAATTGCTTGAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(360): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18940.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19006.hp1 NA19006.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0006 a0007 a0008 a0009 a0010	a0001c0001 a0001c0002 a0001c0006 others(8): Show a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0002c0004 a0004c0007 a0006c0010 a0007c0013 a0008c0014 a0009c0012 a0010c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0002t0001 a0001c0002t0014 a0001c0006t0001 a0001c0008t0001 a0002c0004t0001 a0004c0007t0001 a0006c0010t0006 a0007c0013t0001 a0008c0014t0003 a0009c0012t0005 a0010c0011t0002	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(186): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0049 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0011 a0001c0001t0002g0021 a0001c0001t0002g0023 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0035 a0001c0001t0002g0044 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0078 a0001c0001t0002g0087 a0001c0001t0002g0091 a0001c0001t0002g0095 a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0002g0105 a0001c0001t0002g0114 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0132 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0140 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0162 a0001c0001t0003g0001 a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0035 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0090 a0001c0001t0003g0098 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0106 a0001c0001t0003g0108 a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0134 a0001c0001t0004g0001 a0001c0001t0004g0008 a0001c0001t0004g0009 a0001c0001t0004g0016 a0001c0001t0004g0021 a0001c0001t0004g0029 a0001c0001t0004g0041 a0001c0001t0004g0043 a0001c0001t0004g0045 a0001c0001t0004g0089 a0001c0001t0004g0100 a0001c0001t0004g0104 a0001c0001t0004g0107 a0001c0001t0004g0110 a0001c0001t0004g0113 a0001c0001t0004g0115 a0001c0001t0004g0131 a0001c0001t0004g0133 a0001c0001t0004g0141 a0001c0001t0004g0178 a0001c0001t0004g0180 a0001c0001t0005g0002 a0001c0001t0005g0023 a0001c0001t0005g0050 a0001c0001t0005g0051 a0001c0001t0005g0125 a0001c0001t0005g0151 a0001c0001t0005g0153 a0001c0001t0005g0154 a0001c0001t0005g0155 a0001c0001t0005g0156 a0001c0001t0005g0157 a0001c0001t0005g0158 a0001c0001t0005g0159 a0001c0001t0005g0160 a0001c0001t0006g0014 a0001c0001t0006g0027 a0001c0001t0006g0036 a0001c0001t0006g0040 a0001c0001t0006g0065 a0001c0001t0006g0069 a0001c0001t0006g0070 a0001c0001t0006g0081 a0001c0001t0006g0082 a0001c0001t0007g0012 a0001c0001t0007g0033 a0001c0001t0007g0048 a0001c0001t0007g0148 a0001c0001t0007g0149 a0001c0001t0008g0002 a0001c0001t0008g0152 a0001c0001t0008g0161 a0001c0001t0009g0030 a0001c0001t0009g0093 a0001c0001t0009g0094 a0001c0001t0009g0109 a0001c0001t0009g0142 a0001c0001t0009g0179 a0001c0001t0010g0014 a0001c0001t0010g0026 a0001c0001t0011g0054 a0001c0001t0011g0177 a0001c0001t0011g0181 a0001c0001t0012g0022 a0001c0001t0013g0084 a0001c0001t0015g0023 a0001c0002t0001g0013 a0001c0002t0001g0028 a0001c0002t0001g0052 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0014g0052 a0001c0006t0001g0092 a0001c0006t0001g0139 a0001c0008t0001g0017 a0002c0004t0001g0006 a0002c0004t0001g0025 a0002c0004t0001g0075 a0004c0007t0001g0003 a0006c0010t0006g0026 a0007c0013t0001g0003 a0008c0014t0003g0001 a0009c0012t0005g0001 a0010c0011t0002g0001	363	428	0.8481	11	c.567 others(26): Show c.567-213_567-212insAATTGCTTGAA	HTRA4	ENSG00000169495.5	transcript	ENST00000302495.5	protein_coding	2/8			chr8	TogoVar
HTT_chr4_3069681_3248957	3093905	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0014 a0014	a0014c0014 a0014c0014	a0014c0014t0003 a0014c0014t0003	a0014c0014t0003g0015 a0014c0014t0003g0015	1	294	0.0034	11	c.348 others(28): Show c.348-5355_348-5345dupTTTTTTTTTTT	HTT	ENSG00000197386.14	transcript	ENST00000355072.11	protein_coding	2/66		INFO_REALIGN_3_PRIME	chr4	TogoVar
HTT_chr4_3069681_3248957	3210904	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00597.hp2 HG00639.hp1 others(70): Show HG00423.hp2 HG00597.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00741.hp2 HG01070.hp1 HG01109.hp1 HG01168.hp1 HG01169.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp2 HG01433.hp2 HG01516.hp2 HG01517.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG02040.hp2 HG02080.hp2 HG02109.hp1 HG02165.hp1 HG02273.hp1 HG02300.hp1 HG02523.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02895.hp1 HG02922.hp1 HG03017.hp2 HG03139.hp1 HG03239.hp1 HG03491.hp2 HG03654.hp1 HG03669.hp1 HG03704.hp2 HG03942.hp1 HG04199.hp2 HG04228.hp2 NA18942.hp2 NA18947.hp2 NA18951.hp1 NA18952.hp2 NA18954.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp2 NA18969.hp1 NA18970.hp1 NA18973.hp1 NA18975.hp1 NA18979.hp1 NA18980.hp1 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18989.hp2 NA18999.hp1 NA19007.hp1 NA19009.hp1 NA19056.hp1 NA19057.hp2 NA19064.hp2 NA19079.hp2 NA19084.hp2 NA20129.hp1	a0002 a0005 a0007 others(21): Show a0002 a0005 a0007 a0021 a0024 a0025 a0026 a0030 a0031 a0033 a0034 a0040 a0042 a0046 a0051 a0052 a0056 a0057 a0059 a0074 a0076 a0081 a0087 a0089	a0002c0001 a0002c0030 a0002c0031 others(25): Show a0002c0001 a0002c0030 a0002c0031 a0005c0004 a0005c0090 a0007c0007 a0007c0053 a0021c0021 a0024c0047 a0025c0025 a0026c0026 a0030c0034 a0031c0035 a0033c0097 a0034c0038 a0040c0045 a0042c0048 a0046c0055 a0051c0062 a0052c0061 a0056c0070 a0057c0074 a0059c0075 a0074c0095 a0076c0101 a0081c0109 a0087c0119 a0089c0125	a0002c0001t0002 a0002c0001t0013 a0002c0001t0014 others(29): Show a0002c0001t0002 a0002c0001t0013 a0002c0001t0014 a0002c0001t0024 a0002c0030t0002 a0002c0031t0002 a0005c0004t0002 a0005c0090t0002 a0007c0007t0003 a0007c0053t0003 a0021c0021t0002 a0021c0021t0012 a0024c0047t0008 a0025c0025t0002 a0026c0026t0003 a0030c0034t0002 a0031c0035t0002 a0033c0097t0001 a0034c0038t0002 a0040c0045t0002 a0042c0048t0008 a0046c0055t0011 a0051c0062t0002 a0052c0061t0035 a0056c0070t0001 a0057c0074t0002 a0059c0075t0014 a0074c0095t0002 a0076c0101t0002 a0081c0109t0002 a0087c0119t0022 a0089c0125t0002	a0002c0001t0002g0191 a0002c0001t0002g0193 a0002c0001t0002g0196 others(70): Show a0002c0001t0002g0191 a0002c0001t0002g0193 a0002c0001t0002g0196 a0002c0001t0002g0206 a0002c0001t0002g0208 a0002c0001t0002g0211 a0002c0001t0002g0212 a0002c0001t0002g0217 a0002c0001t0002g0220 a0002c0001t0002g0223 a0002c0001t0002g0227 a0002c0001t0002g0237 a0002c0001t0002g0244 a0002c0001t0002g0245 a0002c0001t0002g0246 a0002c0001t0002g0248 a0002c0001t0002g0249 a0002c0001t0002g0250 a0002c0001t0002g0251 a0002c0001t0002g0255 a0002c0001t0002g0262 a0002c0001t0002g0279 a0002c0001t0002g0282 a0002c0001t0002g0283 a0002c0001t0002g0284 a0002c0001t0013g0224 a0002c0001t0013g0225 a0002c0001t0014g0214 a0002c0001t0024g0238 a0002c0030t0002g0213 a0002c0030t0002g0218 a0002c0031t0002g0226 a0002c0031t0002g0253 a0005c0004t0002g0194 a0005c0004t0002g0195 a0005c0004t0002g0209 a0005c0004t0002g0219 a0005c0004t0002g0228 a0005c0004t0002g0229 a0005c0004t0002g0230 a0005c0004t0002g0256 a0005c0090t0002g0215 a0007c0007t0003g0024 a0007c0007t0003g0026 a0007c0007t0003g0027 a0007c0007t0003g0028 a0007c0053t0003g0104 a0021c0021t0002g0232 a0021c0021t0012g0231 a0021c0021t0012g0265 a0024c0047t0008g0258 a0025c0025t0002g0187 a0025c0025t0002g0188 a0026c0026t0003g0022 a0030c0034t0002g0221 a0030c0034t0002g0278 a0031c0035t0002g0267 a0031c0035t0002g0269 a0033c0097t0001g0061 a0034c0038t0002g0192 a0040c0045t0002g0103 a0042c0048t0008g0259 a0046c0055t0011g0204 a0051c0062t0002g0243 a0052c0061t0035g0252 a0056c0070t0001g0280 a0057c0074t0002g0268 a0059c0075t0014g0222 a0074c0095t0002g0106 a0076c0101t0002g0266 a0081c0109t0002g0264 a0087c0119t0022g0207 a0089c0125t0002g0108	73	294	0.2483	11	c.641 others(28): Show c.6414+960_6414+970dupTTTTTTTTTTT	HTT	ENSG00000197386.14	transcript	ENST00000355072.11	protein_coding	47/66		INFO_REALIGN_3_PRIME	chr4	TogoVar
HUNK_chr21_31868020_32009064	31917757	C C	CACACACA others(4): Show CACACACACACA	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0009 a0009	a0009c0021 a0009c0021	a0009c0021t0002 a0009c0021t0002	a0009c0021t0002g0036 a0009c0021t0002g0036	1	328	0.0031	11	c.262 others(28): Show c.262-6711_262-6710insACACACACACA	HUNK	ENSG00000142149.9	transcript	ENST00000270112.7	protein_coding	1/10			chr21	TogoVar
HUWE1_chrX_53527096_53691719	53658049	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(78): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp2 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01169.hp1 HG01256.hp1 HG01261.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01943.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02080.hp2 HG02132.hp1 HG02135.hp1 HG02148.hp1 HG02148.hp2 HG02698.hp1 HG02738.hp1 HG03130.hp1 HG03139.hp1 HG03239.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03654.hp1 HG03704.hp2 NA18747.hp1 NA18942.hp1 NA18946.hp2 NA18949.hp1 NA18949.hp2 NA18952.hp1 NA18955.hp1 NA18959.hp1 NA18961.hp1 NA18974.hp1 NA18977.hp1 NA18983.hp1 NA18985.hp1 NA18993.hp2 NA19000.hp1 NA19009.hp1 NA19030.hp1 NA19055.hp1 NA19060.hp1 NA19063.hp1 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19082.hp1 NA19083.hp1 NA19084.hp1 NA19085.hp1 NA19087.hp2 NA20905.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0009 a0001c0013 a0001c0015 a0003c0016 a0005c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0001t0018 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0007 a0001c0002t0009 a0001c0002t0012 a0001c0002t0013 a0001c0002t0017 a0001c0003t0002 a0001c0003t0019 a0001c0006t0001 a0001c0006t0002 a0001c0009t0001 a0001c0013t0001 a0001c0015t0002 a0003c0016t0002 a0005c0012t0016	a0001c0001t0001g0075 a0001c0001t0001g0100 a0001c0001t0001g0101 others(78): Show a0001c0001t0001g0075 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0002g0149 a0001c0001t0003g0042 a0001c0001t0003g0046 a0001c0001t0003g0053 a0001c0001t0004g0190 a0001c0001t0004g0203 a0001c0001t0004g0206 a0001c0001t0004g0207 a0001c0001t0011g0008 a0001c0001t0018g0184 a0001c0002t0001g0065 a0001c0002t0002g0123 a0001c0002t0002g0126 a0001c0002t0002g0127 a0001c0002t0002g0128 a0001c0002t0002g0129 a0001c0002t0002g0131 a0001c0002t0002g0133 a0001c0002t0002g0134 a0001c0002t0002g0135 a0001c0002t0002g0136 a0001c0002t0002g0141 a0001c0002t0002g0142 a0001c0002t0002g0147 a0001c0002t0002g0152 a0001c0002t0002g0155 a0001c0002t0002g0156 a0001c0002t0002g0159 a0001c0002t0002g0160 a0001c0002t0002g0161 a0001c0002t0002g0165 a0001c0002t0002g0167 a0001c0002t0002g0168 a0001c0002t0002g0174 a0001c0002t0002g0176 a0001c0002t0002g0182 a0001c0002t0002g0183 a0001c0002t0003g0009 a0001c0002t0003g0015 a0001c0002t0003g0019 a0001c0002t0003g0022 a0001c0002t0003g0023 a0001c0002t0003g0024 a0001c0002t0005g0120 a0001c0002t0005g0121 a0001c0002t0005g0122 a0001c0002t0005g0139 a0001c0002t0005g0153 a0001c0002t0005g0180 a0001c0002t0007g0209 a0001c0002t0007g0210 a0001c0002t0007g0211 a0001c0002t0009g0124 a0001c0002t0009g0169 a0001c0002t0012g0020 a0001c0002t0013g0014 a0001c0002t0017g0138 a0001c0003t0002g0125 a0001c0003t0002g0132 a0001c0003t0002g0137 a0001c0003t0002g0140 a0001c0003t0002g0154 a0001c0003t0002g0162 a0001c0003t0002g0163 a0001c0003t0002g0164 a0001c0003t0002g0170 a0001c0003t0002g0173 a0001c0003t0019g0213 a0001c0006t0001g0067 a0001c0006t0002g0148 a0001c0009t0001g0077 a0001c0013t0001g0066 a0001c0015t0002g0130 a0003c0016t0002g0119 a0005c0012t0016g0181	81	214	0.3785	11	c.-24 others(28): Show c.-24-3929_-24-3919dupTTTTTTTTTTT	HUWE1	ENSG00000086758.17	transcript	ENST00000262854.11	protein_coding	3/83			chrX	TogoVar
HUWE1_chrX_53527096_53691719	53686636	G G	GGCCCTGC others(4): Show GGCCCTGCTTCA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0062 a0001c0001t0015g0062	1	214	0.0047	11	c.-32 others(20): Show c.-321_-311dupTGAAGCAGGGC	HUWE1	ENSG00000086758.17	transcript	ENST00000262854.11	protein_coding	1/84	32530		chrX	TogoVar
HUWE1_chrX_53527096_53691719	53686645	T T	TCAGCCCT others(4): Show TCAGCCCTGCTC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00597.hp1 HG00733.hp1 HG01106.hp1 others(23): Show HG00597.hp1 HG00733.hp1 HG01106.hp1 HG01978.hp1 HG02080.hp1 HG02148.hp1 HG02622.hp1 HG03942.hp1 HG04204.hp1 NA18942.hp2 NA18943.hp1 NA18945.hp1 NA18953.hp1 NA18957.hp2 NA18966.hp1 NA18984.hp1 NA18995.hp1 NA19004.hp1 NA19012.hp1 NA19058.hp1 NA19067.hp1 NA19070.hp1 NA19076.hp1 NA19084.hp2 NA19088.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0004 a0001c0008t0004 a0001c0001t0004 a0001c0008t0004	a0001c0001t0004g0001 a0001c0001t0004g0185 a0001c0001t0004g0186 others(22): Show a0001c0001t0004g0001 a0001c0001t0004g0185 a0001c0001t0004g0186 a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0004g0189 a0001c0001t0004g0190 a0001c0001t0004g0191 a0001c0001t0004g0192 a0001c0001t0004g0193 a0001c0001t0004g0194 a0001c0001t0004g0195 a0001c0001t0004g0196 a0001c0001t0004g0197 a0001c0001t0004g0198 a0001c0001t0004g0199 a0001c0001t0004g0200 a0001c0001t0004g0201 a0001c0001t0004g0202 a0001c0001t0004g0203 a0001c0001t0004g0204 a0001c0001t0004g0205 a0001c0001t0004g0206 a0001c0001t0004g0207 a0001c0008t0004g0208	26	214	0.1215	11	c.-32 others(20): Show c.-320_-319insGAGCAGGGCTG	HUWE1	ENSG00000086758.17	transcript	ENST00000262854.11	protein_coding	1/84	32539		chrX	TogoVar
HUWE1_chrX_53527096_53691719	53686656	T T	TCAGCCCT others(4): Show TCAGCCCTGCTC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp1 others(62): Show HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01169.hp1 HG01496.hp2 HG01928.hp1 HG01943.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02074.hp1 HG02080.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02148.hp2 HG02698.hp1 HG02738.hp1 HG03239.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03654.hp1 HG03704.hp2 HG03831.hp1 HG04115.hp1 HG04228.hp1 NA18747.hp1 NA18906.hp1 NA18942.hp1 NA18949.hp1 NA18955.hp1 NA18957.hp1 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18974.hp1 NA18977.hp1 NA18983.hp1 NA18985.hp1 NA18993.hp1 NA19007.hp1 NA19009.hp1 NA19030.hp2 NA19063.hp1 NA19066.hp1 NA19068.hp1 NA19083.hp1 NA19084.hp1 NA20129.hp2 NA20905.hp1	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0006	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0014 a0001c0015 a0003c0016 a0005c0012 a0006c0018	a0001c0001t0002 a0001c0002t0002 a0001c0002t0005 others(9): Show a0001c0001t0002 a0001c0002t0002 a0001c0002t0005 a0001c0002t0009 a0001c0002t0017 a0001c0003t0002 a0001c0006t0002 a0001c0014t0002 a0001c0015t0002 a0003c0016t0002 a0005c0012t0016 a0006c0018t0002	a0001c0001t0002g0149 a0001c0001t0002g0172 a0001c0001t0002g0177 others(62): Show a0001c0001t0002g0149 a0001c0001t0002g0172 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0002t0002g0123 a0001c0002t0002g0126 a0001c0002t0002g0127 a0001c0002t0002g0128 a0001c0002t0002g0129 a0001c0002t0002g0131 a0001c0002t0002g0133 a0001c0002t0002g0134 a0001c0002t0002g0135 a0001c0002t0002g0136 a0001c0002t0002g0141 a0001c0002t0002g0142 a0001c0002t0002g0145 a0001c0002t0002g0147 a0001c0002t0002g0150 a0001c0002t0002g0152 a0001c0002t0002g0155 a0001c0002t0002g0156 a0001c0002t0002g0159 a0001c0002t0002g0160 a0001c0002t0002g0161 a0001c0002t0002g0165 a0001c0002t0002g0166 a0001c0002t0002g0167 a0001c0002t0002g0168 a0001c0002t0002g0174 a0001c0002t0002g0175 a0001c0002t0002g0176 a0001c0002t0002g0182 a0001c0002t0002g0183 a0001c0002t0005g0120 a0001c0002t0005g0121 a0001c0002t0005g0122 a0001c0002t0005g0139 a0001c0002t0005g0153 a0001c0002t0005g0180 a0001c0002t0009g0124 a0001c0002t0009g0169 a0001c0002t0017g0138 a0001c0003t0002g0125 a0001c0003t0002g0132 a0001c0003t0002g0137 a0001c0003t0002g0140 a0001c0003t0002g0143 a0001c0003t0002g0144 a0001c0003t0002g0146 a0001c0003t0002g0151 a0001c0003t0002g0154 a0001c0003t0002g0157 a0001c0003t0002g0162 a0001c0003t0002g0163 a0001c0003t0002g0164 a0001c0003t0002g0170 a0001c0003t0002g0173 a0001c0006t0002g0148 a0001c0014t0002g0158 a0001c0015t0002g0130 a0003c0016t0002g0119 a0005c0012t0016g0181 a0006c0018t0002g0171	65	214	0.3037	11	c.-34 others(20): Show c.-341_-331dupGAGCAGGGCTG	HUWE1	ENSG00000086758.17	transcript	ENST00000262854.11	protein_coding	1/84	32550		chrX	TogoVar
HYAL1_chr3_50294893_50308574	50298897	A A	AGCCCGGG others(4): Show AGCCCGGGGCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0016 a0005c0005t0001g0016	1	384	0.0026	11	c.15 others(22): Show c.1575_*1585dupAAGCCCCGGGC	HYAL1	ENSG00000114378.17	transcript	ENST00000395144.7	protein_coding		995		chr3	TogoVar
HYAL1_chr3_50294893_50308574	50304274	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0012 a0001c0001t0004g0012	1	384	0.0026	11	c.-84 others(20): Show c.-844_-834dupTTTTTTTTTTT	HYAL1	ENSG00000114378.17	transcript	ENST00000395144.7	protein_coding		701		chr3	TogoVar
HYAL1_chr3_50294893_50308574	50304296	A A	AAAAAAAA others(4): Show AAAAAAAAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp2 HG02040.hp1 HG02698.hp2 others(2): Show HG01256.hp2 HG02040.hp1 HG02698.hp2 HG04184.hp2 NA18940.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0001 a0002c0002t0001g0004 a0001c0001t0001g0001 a0002c0002t0001g0004	5	384	0.0130	11	c.-85 others(20): Show c.-856_-855insATTTTTTTTTT	HYAL1	ENSG00000114378.17	transcript	ENST00000395144.7	protein_coding		723		chr3	TogoVar
HYAL1_chr3_50294893_50308574	50304296	A A	AAAAAAAA others(4): Show AAAAAAAATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	384	0.0026	11	c.-85 others(20): Show c.-856_-855insATTATTTTTTT	HYAL1	ENSG00000114378.17	transcript	ENST00000395144.7	protein_coding		723		chr3	TogoVar
HYAL1_chr3_50294893_50308574	50304296	A A	AAAAAAAT others(4): Show AAAAAAATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG03017.hp1 NA18960.hp1 HG01256.hp1 HG03017.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	384	0.0078	11	c.-85 others(20): Show c.-856_-855insATATATTTTTT	HYAL1	ENSG00000114378.17	transcript	ENST00000395144.7	protein_coding		723		chr3	TogoVar
HYAL1_chr3_50294893_50308574	50304296	A A	AAAAATAT others(4): Show AAAAATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp1 HG04199.hp1 NA20752.hp2 HG04184.hp1 HG04199.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	384	0.0078	11	c.-85 others(20): Show c.-856_-855insATATATATTTT	HYAL1	ENSG00000114378.17	transcript	ENST00000395144.7	protein_coding		723		chr3	TogoVar
HYAL1_chr3_50294893_50308574	50304296	A A	AAATATAT others(4): Show AAATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	384	0.0026	11	c.-85 others(20): Show c.-856_-855insATATATATATT	HYAL1	ENSG00000114378.17	transcript	ENST00000395144.7	protein_coding		723		chr3	TogoVar
HYAL3_chr3_50287832_50304405	50298897	A A	AGCCCGGG others(4): Show AGCCCGGGGCTT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0034 a0003c0003t0002g0034	1	378	0.0027	11	c.-18 others(26): Show c.-18+305_-18+315dupAAGCCCCGGGC	HYAL3	ENSG00000186792.17	transcript	ENST00000336307.6	protein_coding	1/3			chr3	TogoVar
HYAL3_chr3_50287832_50304405	50304274	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	378	0.0027	11	c.-50 others(22): Show c.-5090_-5080dupTTTTTTTTTTT	HYAL3	ENSG00000186792.17	transcript	ENST00000336307.6	protein_coding		4870		chr3	TogoVar
HYAL3_chr3_50287832_50304405	50304296	A A	AAAAAAAA others(4): Show AAAAAAAAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG02040.hp2 HG02698.hp1 others(1): Show HG01256.hp1 HG02040.hp2 HG02698.hp1 NA18940.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0001 a0002c0002t0001g0022 a0001c0001t0001g0001 a0002c0002t0001g0022	4	378	0.0106	11	c.-51 others(22): Show c.-5102_-5101insATTTTTTTTTT	HYAL3	ENSG00000186792.17	transcript	ENST00000336307.6	protein_coding		4892		chr3	TogoVar
HYAL3_chr3_50287832_50304405	50304296	A A	AAAAAAAT others(4): Show AAAAAAATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp2 HG03017.hp2 NA18960.hp1 HG01256.hp2 HG03017.hp2 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	378	0.0079	11	c.-51 others(22): Show c.-5102_-5101insATATATTTTTT	HYAL3	ENSG00000186792.17	transcript	ENST00000336307.6	protein_coding		4892		chr3	TogoVar
HYAL3_chr3_50287832_50304405	50304296	A A	AAAAATAT others(4): Show AAAAATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp2 NA20752.hp1 HG04199.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	378	0.0053	11	c.-51 others(22): Show c.-5102_-5101insATATATATTTT	HYAL3	ENSG00000186792.17	transcript	ENST00000336307.6	protein_coding		4892		chr3	TogoVar
HYAL3_chr3_50287832_50304405	50304296	A A	AAATATAT others(4): Show AAATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG02129.hp2 HG00733.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	378	0.0053	11	c.-51 others(22): Show c.-5102_-5101insATATATATATT	HYAL3	ENSG00000186792.17	transcript	ENST00000336307.6	protein_coding		4892		chr3	TogoVar
HYAL3_chr3_50287832_50304405	50304296	A A	ATATATAT others(4): Show ATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	378	0.0027	11	c.-51 others(22): Show c.-5102_-5101insATATATATATA	HYAL3	ENSG00000186792.17	transcript	ENST00000336307.6	protein_coding		4892		chr3	TogoVar
HYCC2_chr2_200968718_201076671	201056204	A A	AAATAAAT others(4): Show AAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG06807.hp2 HG02965.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0149 a0001c0001t0017g0150 a0001c0001t0017g0149 a0001c0001t0017g0150	2	176	0.0114	11	c.-12 others(32): Show c.-128-10612_-128-10611insATTTATTTATT	HYCC2	ENSG00000155744.10	transcript	ENST00000681958.1	protein_coding	1/12			chr2	TogoVar
HYDIN_chr16_70797084_71235722	70902821	A A	ATATATAT others(4): Show ATATATATATTT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0006 a0006	a0006c0045 a0006c0045	a0006c0045t0022 a0006c0045t0022	a0006c0045t0022g0128 a0006c0045t0022g0128	1	174	0.0058	11	c.884 others(28): Show c.8849+803_8849+804insAAATATATATA	HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	52/85			chr16	TogoVar
HYDIN_chr16_70797084_71235722	70902821	A A	ATATTTTT others(4): Show ATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp2 HG01952.hp1 HG01952.hp2	a0002 a0002	a0002c0003 a0002c0011 a0002c0003 a0002c0011	a0002c0003t0002 a0002c0011t0004 a0002c0003t0002 a0002c0011t0004	a0002c0003t0002g0010 a0002c0011t0004g0087 a0002c0003t0002g0010 a0002c0011t0004g0087	2	174	0.0115	11	c.884 others(28): Show c.8849+803_8849+804insAAAAAAAAATA	HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	52/85			chr16	TogoVar
HYDIN_chr16_70797084_71235722	70904518	T T	TTTTTTTT others(4): Show TTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02148.hp1 HG02602.hp2 others(2): Show HG00639.hp1 HG02148.hp1 HG02602.hp2 NA18953.hp1 NA19066.hp2	a0001 a0006 a0010 a0001 a0006 a0010	a0001c0001 a0001c0002 a0006c0012 others(1): Show a0001c0001 a0001c0002 a0006c0012 a0010c0035	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0006c0012t0003 a0010c0035t0001	a0001c0001t0001g0065 a0001c0002t0001g0129 a0001c0002t0002g0003 others(2): Show a0001c0001t0001g0065 a0001c0002t0001g0129 a0001c0002t0002g0003 a0006c0012t0003g0159 a0010c0035t0001g0054	5	174	0.0287	11	c.851 others(28): Show c.8517-455_8517-454insCAAAAAAAAAA	HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	50/85			chr16	TogoVar
HYDIN_chr16_70797084_71235722	71233926	A A	ATTCTTTT others(4): Show ATTCTTTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0025 a0025	a0025c0061 a0025c0061	a0025c0061t0013 a0025c0061t0013	a0025c0061t0013g0117 a0025c0061t0013g0117	1	174	0.0058	11	c.-33 others(22): Show c.-3389_-3388insAAAGAAAAGAA	HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding		3205		chr16	TogoVar
HYKK_chr15_78502577_78541645	78504595	G G	GAAAAAAA others(4): Show GAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG01070.hp2 HG02056.hp1 others(13): Show HG00733.hp2 HG01070.hp2 HG02056.hp1 HG03130.hp2 HG03139.hp2 HG03579.hp2 HG03927.hp2 NA18943.hp1 NA18943.hp2 NA18965.hp2 NA18967.hp2 NA18978.hp1 NA18987.hp1 NA18993.hp2 NA19005.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0016 others(4): Show a0001c0001t0001 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0023 a0001c0001t0036 a0001c0001t0037	a0001c0001t0001g0011 a0001c0001t0001g0031 a0001c0001t0001g0034 others(13): Show a0001c0001t0001g0011 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0160 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0013g0166 a0001c0001t0013g0168 a0001c0001t0016g0345 a0001c0001t0017g0082 a0001c0001t0023g0171 a0001c0001t0036g0108 a0001c0001t0036g0177 a0001c0001t0037g0044	16	412	0.0388	11	c.-30 others(22): Show c.-3082_-3081insAAAAAAAAAAA	HYKK	ENSG00000188266.14	transcript	ENST00000388988.9	protein_coding		2981		chr15	TogoVar
HYKK_chr15_78502577_78541645	78508880	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00639.hp1 HG00639.hp2 others(57): Show HG00280.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00733.hp1 HG01074.hp2 HG01081.hp2 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01884.hp2 HG02109.hp1 HG02129.hp2 HG02257.hp2 HG02622.hp2 HG02683.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02965.hp2 HG03041.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03831.hp1 HG03942.hp1 HG04199.hp1 HG04204.hp1 NA18522.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18965.hp1 NA18974.hp1 NA18984.hp2 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA19001.hp1 NA19030.hp1 NA19043.hp1 NA19056.hp1 NA19060.hp2 NA19067.hp2 NA19072.hp2 NA19083.hp2 NA19088.hp1 NA19091.hp1 NA19240.hp1 NA20129.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(9): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0021 a0001c0001t0036 a0001c0002t0002 a0001c0002t0010 a0001c0002t0011 a0001c0002t0018 a0001c0002t0044 a0001c0002t0046 a0001c0005t0031	a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0294 others(50): Show a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0294 a0001c0001t0005g0298 a0001c0001t0005g0299 a0001c0001t0005g0300 a0001c0001t0006g0002 a0001c0001t0006g0137 a0001c0001t0006g0138 a0001c0001t0006g0139 a0001c0001t0006g0140 a0001c0001t0006g0141 a0001c0001t0021g0037 a0001c0001t0021g0351 a0001c0001t0036g0108 a0001c0002t0002g0008 a0001c0002t0002g0019 a0001c0002t0002g0020 a0001c0002t0002g0105 a0001c0002t0002g0106 a0001c0002t0002g0111 a0001c0002t0002g0113 a0001c0002t0002g0115 a0001c0002t0002g0121 a0001c0002t0002g0122 a0001c0002t0002g0124 a0001c0002t0002g0126 a0001c0002t0002g0127 a0001c0002t0002g0128 a0001c0002t0002g0129 a0001c0002t0002g0130 a0001c0002t0002g0131 a0001c0002t0002g0132 a0001c0002t0002g0133 a0001c0002t0002g0134 a0001c0002t0002g0135 a0001c0002t0002g0136 a0001c0002t0002g0295 a0001c0002t0002g0296 a0001c0002t0002g0297 a0001c0002t0010g0114 a0001c0002t0010g0118 a0001c0002t0011g0008 a0001c0002t0011g0019 a0001c0002t0011g0123 a0001c0002t0011g0125 a0001c0002t0018g0110 a0001c0002t0018g0116 a0001c0002t0018g0117 a0001c0002t0018g0271 a0001c0002t0044g0119 a0001c0002t0046g0120 a0001c0005t0031g0112	60	412	0.1456	11	c.-6+ others(26): Show c.-6+1219_-6+1229dupAAAAAAAAAAA	HYKK	ENSG00000188266.14	transcript	ENST00000388988.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr15	TogoVar
IARS1_chr9_92205207_92298697	92292181	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03139.hp1 HG02486.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0155 a0001c0001t0004g0154 a0001c0001t0001g0155 a0001c0001t0004g0154	2	338	0.0059	11	c.-8+ others(26): Show c.-8+1419_-8+1429dupAAAAAAAAAAA	IARS1	ENSG00000196305.19	transcript	ENST00000443024.7	protein_coding	1/33			chr9	TogoVar
IARS2_chr1_220089132_220153041	220146517	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0081 a0001c0007t0001g0081	1	366	0.0027	11	c.289 others(28): Show c.2896+876_2896+886dupAAAAAAAAAAA	IARS2	ENSG00000067704.10	transcript	ENST00000366922.3	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
IBTK_chr6_82164987_82252744	82190815	A A	ATCCACAT others(4): Show ATCCACATTTTG	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0052 a0002c0002t0002g0052	1	296	0.0034	11	c.357 others(28): Show c.3575+247_3575+257dupCAAAATGTGGA	IBTK	ENSG00000005700.15	transcript	ENST00000306270.12	protein_coding	25/28			chr6	TogoVar
IBTK_chr6_82164987_82252744	82246441	C C	CTCTTTTT others(4): Show CTCTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00597.hp1 others(54): Show HG00140.hp1 HG00408.hp1 HG00597.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01256.hp2 HG01258.hp1 HG01346.hp1 HG01358.hp2 HG01515.hp2 HG01884.hp2 HG01981.hp1 HG02040.hp1 HG02083.hp2 HG02257.hp2 HG02258.hp1 HG02572.hp1 HG02602.hp2 HG02630.hp1 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02896.hp1 HG02922.hp1 HG02965.hp2 HG03139.hp1 HG03225.hp1 HG03471.hp1 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03688.hp1 HG04184.hp2 HG06807.hp2 NA18906.hp2 NA18952.hp2 NA18961.hp1 NA18981.hp1 NA18986.hp1 NA18990.hp2 NA18993.hp1 NA18995.hp1 NA19007.hp2 NA19054.hp1 NA19074.hp2 NA19080.hp2 NA19082.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20905.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0004 a0001c0010 a0002c0002 others(2): Show a0001c0004 a0001c0010 a0002c0002 a0002c0009 a0004c0005	a0001c0004t0002 a0001c0010t0002 a0002c0002t0002 others(2): Show a0001c0004t0002 a0001c0010t0002 a0002c0002t0002 a0002c0009t0002 a0004c0005t0002	a0001c0004t0002g0268 a0001c0004t0002g0269 a0001c0004t0002g0270 others(53): Show a0001c0004t0002g0268 a0001c0004t0002g0269 a0001c0004t0002g0270 a0001c0010t0002g0267 a0002c0002t0002g0002 a0002c0002t0002g0019 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0022 a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0026 a0002c0002t0002g0027 a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0031 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0036 a0002c0002t0002g0037 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0040 a0002c0002t0002g0041 a0002c0002t0002g0042 a0002c0002t0002g0043 a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0050 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0002g0059 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0219 a0002c0009t0002g0058 a0004c0005t0002g0163 a0004c0005t0002g0164 a0004c0005t0002g0165	57	296	0.1926	11	c.-35 others(30): Show c.-358+1120_-358+1121insAAAAAAAAAGA	IBTK	ENSG00000005700.15	transcript	ENST00000306270.12	protein_coding	1/28			chr6	TogoVar
ICA1L_chr2_202768176_202876766	202777044	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02055.hp2 HG03225.hp1 HG03453.hp1 HG02055.hp2 HG03225.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0079 a0001c0003t0065 a0001c0003t0078 a0001c0001t0079 a0001c0003t0065 a0001c0003t0078	a0001c0001t0079g0224 a0001c0003t0065g0019 a0001c0003t0078g0020 a0001c0001t0079g0224 a0001c0003t0065g0019 a0001c0003t0078g0020	3	330	0.0091	11	c.24 others(22): Show c.2478_*2488dupAAAAAAAAAAA	ICA1L	ENSG00000163596.17	transcript	ENST00000358299.7	protein_coding	13/13	2488		chr2	TogoVar
ICA1_chr7_8108184_8267167	8174771	A A	AAAAAAAA others(4): Show AAAAAAAAAACC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0088 a0001c0001t0002g0088	1	274	0.0037	11	c.580 others(30): Show c.580-16120_580-16119insGGTTTTTTTTT	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	6/13			chr7	TogoVar
ICA1_chr7_8108184_8267167	8216584	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01975.hp2 HG01981.hp2 others(13): Show HG00558.hp2 HG01975.hp2 HG01981.hp2 HG02155.hp1 HG02602.hp1 HG03831.hp1 NA18942.hp1 NA18945.hp1 NA18948.hp1 NA18977.hp2 NA18983.hp1 NA19010.hp2 NA19043.hp1 NA19057.hp2 NA19087.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010	a0001c0001t0001g0010 a0001c0001t0001g0064 a0001c0001t0001g0117 others(13): Show a0001c0001t0001g0010 a0001c0001t0001g0064 a0001c0001t0001g0117 a0001c0001t0001g0164 a0001c0001t0001g0224 a0001c0001t0001g0252 a0001c0001t0003g0021 a0001c0001t0003g0031 a0001c0001t0003g0049 a0001c0001t0003g0051 a0001c0001t0003g0055 a0001c0001t0004g0024 a0001c0001t0004g0050 a0001c0001t0004g0065 a0001c0001t0006g0096 a0001c0001t0010g0257	16	274	0.0584	11	c.579 others(28): Show c.579+1720_579+1721insTTTTTTTTTTT	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	6/13			chr7	TogoVar
ICA1_chr7_8108184_8267167	8255779	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02486.hp2 HG02630.hp1 others(4): Show HG01346.hp2 HG02486.hp2 HG02630.hp1 HG02630.hp2 HG02922.hp2 HG03225.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005	a0001c0001t0002g0128 a0001c0001t0003g0130 a0001c0001t0006g0085 others(4): Show a0001c0001t0002g0128 a0001c0001t0003g0130 a0001c0001t0006g0085 a0001c0002t0003g0086 a0001c0002t0004g0246 a0001c0002t0005g0007 a0001c0002t0005g0129	7	274	0.0256	11	c.-80 others(28): Show c.-80+6304_-80+6314dupAAAAAAAAAAA	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	1/13			chr7	TogoVar
ICAM1_chr19_10266120_10291615	10278548	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0019 a0004c0004t0019	a0004c0004t0019g0225 a0004c0004t0019g0225	1	452	0.0022	11	c.331 others(28): Show c.331+3533_331+3543dupTTTTTTTTTTT	ICAM1	ENSG00000090339.9	transcript	ENST00000264832.8	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
ICAM2_chr17_63997595_64025633	64014330	G G	GGAAGGAA others(4): Show GGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03239.hp1 HG01884.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0129 a0001c0001t0001g0117 a0001c0001t0001g0129	2	392	0.0051	11	c.-45 others(28): Show c.-45+6192_-45+6193insTTCCTTCCTTC	ICAM2	ENSG00000108622.11	transcript	ENST00000579788.6	protein_coding	1/4			chr17	TogoVar
ICE2_chr15_60414609_60484142	60456540	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0101 a0001c0002t0001g0101	1	270	0.0037	11	c.666 others(26): Show c.666+106_666+116dupTTTTTTTTTTT	ICE2	ENSG00000128915.12	transcript	ENST00000261520.9	protein_coding	6/15			chr15	TogoVar
ICE2_chr15_60414609_60484142	60456566	A A	AAAAAAAA others(4): Show AAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG03579.hp1 HG02074.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0038 a0001c0002t0001 a0001c0002t0038	a0001c0002t0001g0079 a0001c0002t0038g0253 a0001c0002t0001g0079 a0001c0002t0038g0253	2	270	0.0074	11	c.666 others(24): Show c.666+90_666+91insATTTTTTTTTT	ICE2	ENSG00000128915.12	transcript	ENST00000261520.9	protein_coding	6/15			chr15	TogoVar
ID2_chr2_8677056_8689461	8685105	T T	TGGCCAGT others(4): Show TGGCCAGTCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	394	0.0025	11	c.14 others(22): Show c.1428_*1429insGGCCAGTCCCC	ID2	ENSG00000115738.10	transcript	ENST00000396290.2	protein_coding		645		chr2	TogoVar
ID3_chr1_23552926_23564501	23554885	C C	CCGGAGCC others(4): Show CCGGAGCCAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG00735.hp1 HG01257.hp2 others(6): Show HG00733.hp2 HG00735.hp1 HG01257.hp2 HG01261.hp2 HG03239.hp1 HG03490.hp1 HG03831.hp1 HG03834.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0005 a0001c0001t0002g0003 a0001c0001t0001g0005 a0001c0001t0002g0003	9	434	0.0207	11	c.35 others(22): Show c.3555_*3556insCTCTGGCTCCG	ID3	ENSG00000117318.9	transcript	ENST00000374561.6	protein_coding		3040		chr1	TogoVar
IDE_chr10_92446684_92579093	92543676	A A	AAGTAGTA others(4): Show AAGTAGTATCAT	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0096 a0002c0003t0001g0096	1	314	0.0032	11	c.99- others(26): Show c.99-6137_99-6127dupATGATACTACT	IDE	ENSG00000119912.18	transcript	ENST00000265986.11	protein_coding	1/24			chr10	TogoVar

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