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
COQ8A_chr1_226935294_226992544	226960391	A A	AGTGGTAC others(394): Show AGTGGTACTTGGTGGTGGTGGTGGTGCTTGGTGGTGGTGGTACTTGGTGG TGGTGGTGGTACTTGGTGGTGATGGTACTTGGTGGTGGTGGTACTTGGTG GTGGCAGTGGTACTTGGTGGTGGTACTTGGTGGTACTTGGTGGTGGTGGT GGTACTTGGTGGTGGCGGTGGTACTTGGTGGTGCTGGTGGTGCTTGGTGG TGGTGGTGGTACTTGGTGGTGGTGATGGTACTTGGTGGTGGTGGTGGTGG TACTTGGTGGTGGTACTTGGTGGTACTTGGTGGTGGTGGCGGTACTTGGT GGTGGTGGCGGTGGCACTTGGTGGTGGTGGTGCTTGGTGGTGGTGATGGT ACTTGGTGGTGGTGATGGTACTTGGTGGTGGTGGTGGTGGTACTTGGTGG TG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(236): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02145.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02970.hp1 HG03041.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18944.hp2 NA18945.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18957.hp2 NA18962.hp1 NA18966.hp2 NA18967.hp2 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18979.hp2 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp2 NA18985.hp1 NA18989.hp1 NA18989.hp2 NA18992.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp2 NA19004.hp2 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19056.hp1 NA19057.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp2 NA19082.hp1 NA19086.hp2 NA19087.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0008 a0001 a0004 a0008	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0010 a0001c0016 a0001c0020 a0004c0019 a0008c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0002t0003 a0001c0003t0003 a0001c0006t0003 a0001c0010t0004 a0001c0010t0010 a0001c0016t0001 a0001c0020t0003 a0004c0019t0001 a0008c0014t0001	a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0025 others(223): Show a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0072 a0001c0001t0001g0100 a0001c0001t0001g0123 a0001c0001t0001g0129 a0001c0001t0001g0162 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0228 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0272 a0001c0001t0001g0282 a0001c0001t0001g0297 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0369 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0027 a0001c0001t0002g0038 a0001c0001t0002g0042 a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0069 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0122 a0001c0001t0002g0138 a0001c0001t0002g0209 a0001c0001t0002g0211 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0232 a0001c0001t0002g0237 a0001c0001t0002g0249 a0001c0001t0002g0251 a0001c0001t0002g0253 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0293 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0346 a0001c0001t0002g0347 a0001c0001t0002g0348 a0001c0001t0002g0349 a0001c0001t0002g0356 a0001c0001t0002g0362 a0001c0001t0002g0363 a0001c0001t0002g0364 a0001c0001t0002g0365 a0001c0001t0002g0366 a0001c0001t0002g0368 a0001c0001t0004g0083 a0001c0001t0006g0093 a0001c0001t0006g0124 a0001c0001t0006g0125 a0001c0001t0006g0126 a0001c0001t0007g0350 a0001c0001t0007g0351 a0001c0001t0007g0352 a0001c0002t0003g0006 a0001c0002t0003g0007 a0001c0002t0003g0017 a0001c0002t0003g0018 a0001c0002t0003g0036 a0001c0002t0003g0044 a0001c0002t0003g0095 a0001c0002t0003g0101 a0001c0002t0003g0207 a0001c0002t0003g0224 a0001c0002t0003g0225 a0001c0002t0003g0226 a0001c0002t0003g0227 a0001c0002t0003g0229 a0001c0002t0003g0230 a0001c0002t0003g0231 a0001c0002t0003g0236 a0001c0002t0003g0239 a0001c0002t0003g0240 a0001c0002t0003g0241 a0001c0002t0003g0242 a0001c0002t0003g0243 a0001c0002t0003g0244 a0001c0002t0003g0245 a0001c0002t0003g0246 a0001c0002t0003g0247 a0001c0002t0003g0252 a0001c0002t0003g0302 a0001c0002t0003g0312 a0001c0002t0003g0313 a0001c0002t0003g0314 a0001c0002t0003g0315 a0001c0002t0003g0372 a0001c0003t0003g0030 a0001c0003t0003g0035 a0001c0003t0003g0056 a0001c0003t0003g0057 a0001c0003t0003g0058 a0001c0003t0003g0061 a0001c0003t0003g0062 a0001c0003t0003g0063 a0001c0003t0003g0064 a0001c0003t0003g0065 a0001c0003t0003g0066 a0001c0003t0003g0067 a0001c0003t0003g0068 a0001c0003t0003g0070 a0001c0003t0003g0071 a0001c0003t0003g0073 a0001c0003t0003g0074 a0001c0003t0003g0077 a0001c0003t0003g0081 a0001c0003t0003g0082 a0001c0003t0003g0320 a0001c0003t0003g0323 a0001c0006t0003g0051 a0001c0006t0003g0075 a0001c0006t0003g0319 a0001c0006t0003g0321 a0001c0006t0003g0322 a0001c0006t0003g0325 a0001c0010t0004g0250 a0001c0010t0010g0254 a0001c0016t0001g0361 a0001c0020t0003g0357 a0004c0019t0001g0208 a0008c0014t0001g0367	239	412	0.5801	401	c.-9- others(414): Show c.-9-981_-9-980insACTTGGTGGTGGTGGTGGTGCTTGGTGGTGGT GGTACTTGGTGGTGGTGGTGGTACTTGGTGGTGATGGTACTTGGTGGTGG TGGTACTTGGTGGTGGCAGTGGTACTTGGTGGTGGTACTTGGTGGTACTT GGTGGTGGTGGTGGTACTTGGTGGTGGCGGTGGTACTTGGTGGTGCTGGT GGTGCTTGGTGGTGGTGGTGGTACTTGGTGGTGGTGATGGTACTTGGTGG TGGTGGTGGTGGTACTTGGTGGTGGTACTTGGTGGTACTTGGTGGTGGTG GCGGTACTTGGTGGTGGTGGCGGTGGCACTTGGTGGTGGTGGTGCTTGGT GGTGGTGATGGTACTTGGTGGTGGTGATGGTACTTGGTGGTGGTGGTGGT GGTACTTGGTGGTGGTGGT	COQ8A	ENSG00000163050.18	transcript	ENST00000366777.4	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
COQ8A_chr1_226935294_226992544	226960391	A A	AGTGGTAC others(394): Show AGTGGTACTTGGTGGTGGTGGTGGTGCTTGGTGGTGGTGGTACTTGGTGG TGGTGGTGGTACTTGGTGGTGATGGTACTTGGTGGTGGTGGTACTTGGTG GTGGCGGTGGTACTTGGTGGTGGTACTTGGTGGTACTTGGTGGTGGTGGT GGTACTTGGTGGTGGCGGTGGTACTTGGTGGTGCTGGTGGTGCTTGGTGG TGGTGGTGGTACTTGGTGGTGGTGATGGTACTTGGTGGTGGTGGTGGTGG TACTTGGTGGTGGTACTTGGTGGTACTTGGTGGTGGTGGCGGTACTTGGT GGTGGTGGCGGTGGCACTTGGTGGTGGTGGTGCTTGGTGGTGGTGATGGT ACTTGGTGGTGGTGATGGTACTTGGTGGTGGTGGTGGTGGTACTTGGTGG TG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0292 a0001c0001t0002g0292	1	412	0.0024	401	c.-9- others(414): Show c.-9-981_-9-980insACTTGGTGGTGGTGGTGGTGCTTGGTGGTGGT GGTACTTGGTGGTGGTGGTGGTACTTGGTGGTGATGGTACTTGGTGGTGG TGGTACTTGGTGGTGGCGGTGGTACTTGGTGGTGGTACTTGGTGGTACTT GGTGGTGGTGGTGGTACTTGGTGGTGGCGGTGGTACTTGGTGGTGCTGGT GGTGCTTGGTGGTGGTGGTGGTACTTGGTGGTGGTGATGGTACTTGGTGG TGGTGGTGGTGGTACTTGGTGGTGGTACTTGGTGGTACTTGGTGGTGGTG GCGGTACTTGGTGGTGGTGGCGGTGGCACTTGGTGGTGGTGGTGCTTGGT GGTGGTGATGGTACTTGGTGGTGGTGATGGTACTTGGTGGTGGTGGTGGT GGTACTTGGTGGTGGTGGT	COQ8A	ENSG00000163050.18	transcript	ENST00000366777.4	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
CROCC2_chr2_240901336_240998311	240924221	C C	CCCCCCAC others(394): Show CCCCCCACACTAACCCAGTCCCCACACTAATCCGGCCCCCACACTAACCC GGCCCCCACACTGACCCGGCCCCCACACTACCCCGGCCCCCCACACTAAC CCAGCCCCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCCACACTA CCCCGGCCCCCCACACTAACCCAGCCCCCCACACTAACCCAGTCCCCACA CTAACCCAGCCCCCCACACTAACCCAGCCCCCCACACTAACCCAGTCCCC ACACTAACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCC CCACACTGACCCGGCCCCCCACACTAACCCAGCCCCCCACACTAACCCAG CCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCACACTAACCCA GT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0044 a0044	a0044c0074 a0044c0074	a0044c0074t0007 a0044c0074t0007	a0044c0074t0007g0165 a0044c0074t0007g0165	1	350	0.0029	401	c.489 others(418): Show c.489-1499_489-1498insCACACTAACCCAGTCCCCACACTAATCC GGCCCCCACACTAACCCGGCCCCCACACTGACCCGGCCCCCACACTACCC CGGCCCCCCACACTAACCCAGCCCCCCACACTAACCCAGTCCCCACACTA ACCCGGCCCCCACACTACCCCGGCCCCCCACACTAACCCAGCCCCCCACA CTAACCCAGTCCCCACACTAACCCAGCCCCCCACACTAACCCAGCCCCCC ACACTAACCCAGTCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCC CCACACTAACCCAGTCCCCACACTGACCCGGCCCCCCACACTAACCCAGC CCCCCACACTAACCCAGCCCCCACACTAACCCAGTCCCCACACTAACCCA GTCCCCACACTAACCCAGTCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CYP2C19_chr10_94757681_94860547	94824979	C C	CATGAACT others(394): Show CATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGT GCCACATTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTATACTC TAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATA CATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAG GTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTC CCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAA TTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGA TAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGG AT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00642.hp2 HG01109.hp1 others(25): Show HG00099.hp1 HG00642.hp2 HG01109.hp1 HG01168.hp2 HG01169.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01496.hp2 HG01884.hp1 HG02572.hp2 HG02717.hp2 HG02738.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03130.hp1 HG03195.hp1 HG03492.hp2 HG03516.hp2 HG03579.hp1 HG03688.hp1 HG03704.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA20752.hp1 NA21309.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0003 a0001c0001t0011 a0005c0008t0003 others(1): Show a0001c0001t0003 a0001c0001t0011 a0005c0008t0003 a0005c0008t0020	a0001c0001t0003g0005 a0001c0001t0003g0027 a0001c0001t0003g0291 others(22): Show a0001c0001t0003g0005 a0001c0001t0003g0027 a0001c0001t0003g0291 a0001c0001t0003g0295 a0001c0001t0003g0297 a0001c0001t0003g0302 a0001c0001t0003g0307 a0001c0001t0003g0311 a0001c0001t0003g0312 a0001c0001t0003g0313 a0001c0001t0003g0314 a0001c0001t0003g0316 a0001c0001t0003g0319 a0001c0001t0003g0321 a0001c0001t0003g0322 a0001c0001t0003g0323 a0001c0001t0003g0324 a0001c0001t0003g0325 a0001c0001t0003g0327 a0001c0001t0011g0304 a0001c0001t0011g0308 a0001c0001t0011g0309 a0001c0001t0011g0310 a0005c0008t0003g0299 a0005c0008t0020g0300	28	364	0.0769	401	c.961 others(418): Show c.961+4404_961+4405insTTTTTTTTTTTTTTTTTTTTTTTTTTTT ATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTAC ATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATC TAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCC ACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTC ATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTG TTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCC CTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATG GTGTATATGTGCCACATTTTCTT	CYP2C19	ENSG00000165841.11	transcript	ENST00000371321.9	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
D2HGDH_chr2_241729630_241773811	241766789	G G	GGAAGAGG others(394): Show GGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTA GGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTA GGAAGAGGGGGGGGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTA GGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTA GGAAGAGGGGGGGGGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGT AGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGT AGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGT AGGAAGAGGGGGGAGAAGTTGGGGAGATGCGAGCCCCGGGCTGAGGGAGT AA	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0024 a0003c0003t0024	a0003c0003t0024g0321 a0003c0003t0024g0321	1	412	0.0024	401	c.130 others(418): Show c.1307-906_1307-905insGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGGGAAGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGGGGAAGTTGGGGAGATGGGAGCCCCGGGCTGA GGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGA GGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGA GGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGCGAGCCCCGGGCTGA GGGAGTAAGAAGAGGGGGGAGAA	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
DCDC2_chr6_24166755_24363059	24238178	G G	GAGGGAGG others(394): Show GAGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAAGGAA TGGAGGGAGGGAGGGAGGAATGGAGGAATGGAGGGATGGGGAGGGGGAGG GGAGGGGGAGGGGGGTGGAAGGGTGAGGGGAGGGGGAGGGAGTGGGAAGG GGGAGGGGAGGGAAGGGGGAGGGGAGGGGGAGGGAGGGAGGGGGAGGGGG AGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGAGGGGAGGG GAGGGGAGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG GAGGGGGAGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGAAGGGGAGG GGGAGGGGAGGGGGAGGGGAAGGGGAGGGGGGGAGGGGGAGGGGGAGGGG GA	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0119 a0002c0002t0003g0119	1	216	0.0046	401	c.923 others(420): Show c.923-33077_923-33076insTCCCCCTCCCCCTCCCCCTCCCCCCC TCCCCTTCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCTCCCCTCCCCC TCCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCTCCCCCTCCCTCCCCTCCCCTCCCCTCCCTCCCCTCCCCTC CCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCTCCCTCCCC CTCCCCTCCCCCTTCCCTCCCCTCCCCCTTCCCACTCCCTCCCCCTCCCC TCACCCTTCCACCCCCCTCCCCCTCCCCTCCCCCTCCCCATCCCTCCATT CCTCCATTCCTCCCTCCCTCCCTCCATTCCTTCCTCCCTCCCTCCCTTCA TTCCTCCCTCCCTCCCTTCCTCCCT	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DECR2_chr16_396885_417482	397726	C C	CGGGGGGT others(394): Show CGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGG GGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGGTGGGGGGGGGTGAGGGAGTGGTGGGGGGTGGGGGG GTGGGGGGGTGAGGGAGTCGGGGGGGTGGGGGTGGGGGGGGTGAGGGAGT CG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	367	0.0027	401	c.-42 others(412): Show c.-4238_-4237insGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGT GAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGG TGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGGTGGGGGGGGGTGAGGGAGTG GTGGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGGTGGGGGTGG GGGGGGTGAGGGAGTCG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4158		chr16	TogoVar
DGKI_chr7_137376037_137851974	137472306	G G	GTATATAC others(394): Show GTATATACATATAATATAATATGTATATACATATAATAATTATATGTATA TATACATATAATTATATGTATATATAATTCTCATATAAATAGTTACTAAG CACATGTCAAGATTTTACTTAGCTCAACAATCAGGATGAAAATCCAGTTC AAAAAAGAGGAAATATATACACGTGTATATATAATATATATGTATATATA ACATATAATATATACGTTTATATATGTATATGTACATATAATATGTATAT GTATATATACATATAATAATTATAATATGTATATATACATTAAATATTAT ATGTATATATACATATAATTATTATATGTATATATACATATAATTATATG TATATATACATATAATTATTATATGTATATATACATATAATTATTATATG TA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0005 a0001c0007t0005	a0001c0007t0005g0066 a0001c0007t0005g0066	1	94	0.0106	401	c.237 others(420): Show c.2374-2688_2374-2687insTACATATAATAATTATATGTATATAT ACATATAATAATTATATGTATATATACATATAATTATATGTATATATACA TATAATAATTATATGTATATATACATATAATATTTAATGTATATATACAT ATTATAATTATTATATGTATATATACATATACATATTATATGTACATATA CATATATAAACGTATATATTATATGTTATATATACATATATATTATATAT ACACGTGTATATATTTCCTCTTTTTTGAACTGGATTTTCATCCTGATTGT TGAGCTAAGTAAAATCTTGACATGTGCTTAGTAACTATTTATATGAGAAT TATATATACATATAATTATATGTATATATACATATAATTATTATATGTAT ATACATATTATATTATATGTATATA	DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	23/32			chr7	TogoVar
DLEC1_chr3_38034208_38129025	38084488	G G	GGTGGTAG others(394): Show GGTGGTAGTAGTAGTGGTAGTAGTAGTGGTAGTAGTAGTAGTGGTGGTGG TAGTAGTGGTAGTAGTAGTGGTAGTAGTAGTAGTGGGGGGGTGGTAGTAG TGGTAGTAGTAGTAGTGGTAGTAGTAGTAGTGGTGGTGGTAGTGGTGGTG GTAGTAGTAGTGGTAGTAGTAGTAGTGGTGGTAGTAGTGGTGGTAGTAGT GGTAATAGTAGTAGTGGTGGTGGTAGTAGTAGTAGTGGTTGTGGTGGTAG TAGTGGTAGTAGTAGTAGTGGTAGTAGTAGTAGTGGTGGTGGTAGTAGTG GTGGTAGTAGTGGTAATAGTAGTAGTGGTGGTGGTGGTAGTAGTAGTGGT AGTAGTAGTAGTGGTAGTAGTAGTAGTGGTGGTGGTAGTAGTGGTGGTGG TT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01891.hp1 others(6): Show HG01167.hp2 HG01169.hp1 HG01891.hp1 HG02622.hp1 HG02717.hp2 HG03225.hp2 HG03516.hp2 NA18522.hp1 NA19043.hp2	a0003 a0016 a0026 a0003 a0016 a0026	a0003c0006 a0016c0051 a0026c0032 a0003c0006 a0016c0051 a0026c0032	a0003c0006t0002 a0016c0051t0002 a0026c0032t0002 a0003c0006t0002 a0016c0051t0002 a0026c0032t0002	a0003c0006t0002g0137 a0003c0006t0002g0140 a0003c0006t0002g0141 others(6): Show a0003c0006t0002g0137 a0003c0006t0002g0140 a0003c0006t0002g0141 a0003c0006t0002g0142 a0003c0006t0002g0143 a0003c0006t0002g0146 a0003c0006t0002g0147 a0016c0051t0002g0145 a0026c0032t0002g0144	9	298	0.0302	401	c.126 others(418): Show c.1261+269_1261+270insGGTAGTAGTAGTAGTGGTGGTGGTAGTA GTGGTAGTAGTAGTGGTAGTAGTAGTAGTGGGGGGGTGGTAGTAGTGGTA GTAGTAGTAGTGGTAGTAGTAGTAGTGGTGGTGGTAGTGGTGGTGGTAGT AGTAGTGGTAGTAGTAGTAGTGGTGGTAGTAGTGGTGGTAGTAGTGGTAA TAGTAGTAGTGGTGGTGGTAGTAGTAGTAGTGGTTGTGGTGGTAGTAGTG GTAGTAGTAGTAGTGGTAGTAGTAGTAGTGGTGGTGGTAGTAGTGGTGGT AGTAGTGGTAATAGTAGTAGTGGTGGTGGTGGTAGTAGTAGTGGTAGTAG TAGTAGTGGTAGTAGTAGTAGTGGTGGTGGTAGTAGTGGTGGTGGTTGTG GTAGTAGTAGTGGTAGTAGTAGT	DLEC1	ENSG00000008226.20	transcript	ENST00000308059.11	protein_coding	7/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
DPYSL2_chr8_26509031_26663175	26556265	A A	ATATATAC others(394): Show ATATATACTATATATATATAGTATATATATAGTATATATATAGTATATAT ATACTATATATATAGTATATATATATAGTATATATATAGTATATATATAG TATATATATAGTATATATATAGTATATATATAGTATATATATAGTATATA TATAGTATATATATAGTATATATATAGTATATATATATAGTATATATATA GTATATATATAGTATATATATATAGTATATATATAGTATATATATATAGT GTATATATATAGTATATATATATAGTGTATATATATAGTATATATATAGT ATATATATAGTATATATAGTATATATGTATATATATATAGTATATATATA GTATATATATATAGTATATATATAGTATATATATATAGTATATATATAGT AT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0151 a0001c0002t0001g0151	1	316	0.0032	401	c.355 others(420): Show c.355-25704_355-25703insTATATACTATATATATATAGTATATA TATAGTATATATATAGTATATATATACTATATATATAGTATATATATATA GTATATATATAGTATATATATAGTATATATATAGTATATATATAGTATAT ATATAGTATATATATAGTATATATATAGTATATATATAGTATATATATAG TATATATATATAGTATATATATAGTATATATATAGTATATATATATAGTA TATATATAGTATATATATATAGTGTATATATATAGTATATATATATAGTG TATATATATAGTATATATATAGTATATATATAGTATATATAGTATATATG TATATATATATAGTATATATATAGTATATATATATAGTATATATATAGTA TATATATATAGTATATATATAGTAT	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13			chr8	TogoVar
EHMT1_chr9_137614005_137841127	137716102	G G	GTTGGTGT others(394): Show GTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAG GAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGG TGGGGGGAGGAAATTGTGGTGTCGTGGTGGGGGAGGAAGTTGTGTTGGTG TCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTG TGTTGGTGTCATGGTGGGGGAGGAAGTGGTGGTGGTGTCATGGTGGGGGA GGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATG GTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTG GTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAG TT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0152 a0001c0006t0001g0152	1	170	0.0059	401	c.86- others(414): Show c.86-524_86-523insTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTG GTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAG TTGTGTTGGTGTCATGGTGGGGGGAGGAAATTGTGGTGTCGTGGTGGGGG AGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCAT GGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTGGTGGT GGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAA GTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGG GGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGT CATGGTGGGGGAGGAAGTT	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26			chr9	TogoVar
EIF2B3_chr1_44845522_44991595	44876573	T T	TGGGGGTC others(394): Show TGGGGGTCAGCCCCCGCCAGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGGTCAGCCCCCGCCCGGCCAGCCGCCCCGTCCGGCAGGGAGGTGGGG GGGTCAGCCCCCCGCCCGGCCACCCGCCCCGTCCGGGAGGCAAGGGGCGC CTCTGCCCGGCCACCCCTACTGGGAATTGAGGAGCCCCTCTGCCCGGCCA GCTGCCCCGTACGGGAGGGAGGTGAGGGGGTCAGCCCCCCGCCCGGCCAG CCACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGG GAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGT GG	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	1	322	0.0031	401	c.976 others(416): Show c.976-879_976-878insCCACCTCCCTCCCGGATGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCTCA CCTCCCTCCCGTACGGGGCAGCTGGCCGGGCAGAGGGGCTCCTCAATTCC CAGTAGGGGTGGCCGGGCAGAGGCGCCCCTTGCCTCCCGGACGGGGCGGG TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTGCCGGACGGGGCGGCT GGCCGGGCGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCTGGCGGGGGCTGACCCCC	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	8/11			chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44876573	T T	TGGGGGTC others(394): Show TGGGGGTCAGCCCCCGCCAGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGCAGGGAGGTGGGG GGGTCAGCCCCCCGCCCGGCCACCCGCCCCGTCCGGGAGGCAAGGGGCGC CTCTGCCCGGCCACCCCTACTGGGAATTGAGGAGCCCCTCTGCCCGGCCA GCTGCCCCGTACGGGAGGGAGGTGAGGGGGTCAGCCCCCCGCCCGGCCAG CCACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGG GAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGT GG	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0049	1	322	0.0031	401	c.976 others(416): Show c.976-879_976-878insCCACCTCCCTCCCGGATGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCTCA CCTCCCTCCCGTACGGGGCAGCTGGCCGGGCAGAGGGGCTCCTCAATTCC CAGTAGGGGTGGCCGGGCAGAGGCGCCCCTTGCCTCCCGGACGGGGCGGG TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTGCCGGACGGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCTGGCGGGGGCTGACCCCC	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	8/11			chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44876573	T T	TGGGGGTC others(394): Show TGGGGGTCAGCCCCCGCCAGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGGTCAGCCCCCGCCCGGCCAGCCGCCCCGTCCGGCAGGGAGGTGGGGG GGTCAGCCCCCCGCCCGGCCACCCGCCCCGTCCGGGAGGCAAGGGGCGCC TCTGCCCGGCCACCCCTACTGGGAATTGAGGAGCCCCTCTGCCCGGCCAG CTGCCCCGTACGGGAGGGAGGTGAGGGGGTCAGCCCCCCGCCCGGCCAGC CACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTG GG	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0055 a0001c0001t0002g0055	1	322	0.0031	401	c.976 others(416): Show c.976-879_976-878insCCCACCTCCCTCCCGGATGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCTC ACCTCCCTCCCGTACGGGGCAGCTGGCCGGGCAGAGGGGCTCCTCAATTC CCAGTAGGGGTGGCCGGGCAGAGGCGCCCCTTGCCTCCCGGACGGGGCGG GTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTGCCGGACGGGGCGGC TGGCCGGGCGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCTGGCGGGGGCTGACCCCC	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	8/11			chr1	TogoVar
EVC2_chr4_5557439_5713559	5706437	G G	GATAGATA others(394): Show GATAGATAGATAGATACATAGATAGATAGATACATAGATACATACATAGA TAGATAGATAGATAGATACATACATACATACATACATACATAGATACATA GATAGATAGATACATAGATAGATACATAGATAGATAGATACATACATACA TACATACATACATACATAGATACATAGATAGATAGATTAGATAGATACAT AGATAGATACATAGATAGATAGATAGATACATAGATACATACATAGATAG ATAGATAGATACATAGATAGATAGATACATAGATACATAGATAGATAGAT AAATACATAGATAGATAGATAGACACATAGATAGATACATAGATAGATAG ATACATAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGAT AC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0009 a0009	a0009c0041 a0009c0041	a0009c0041t0001 a0009c0041t0001	a0009c0041t0001g0095 a0009c0041t0001g0095	1	292	0.0034	401	c.228 others(418): Show c.228+1848_228+1849insGTATCTATCTATCTATGTATCTATCTAT CTATCTATGTATCTATCTATGTATCTATCTATCTATGTATCTATCTATGT GTCTATCTATCTATCTATGTATTTATCTATCTATCTATGTATCTATGTAT CTATCTATCTATGTATCTATCTATCTATCTATGTATGTATCTATGTATCT ATCTATCTATCTATGTATCTATCTATGTATCTATCTAATCTATCTATCTA TGTATCTATGTATGTATGTATGTATGTATGTATGTATCTATCTATCTATG TATCTATCTATGTATCTATCTATCTATGTATCTATGTATGTATGTATGTA TGTATGTATCTATCTATCTATCTATCTATGTATGTATCTATGTATCTATC TATCTATGTATCTATCTATCTAT	EVC2	ENSG00000173040.13	transcript	ENST00000344408.10	protein_coding	1/21			chr4	TogoVar
EVC_chr4_5706201_5819305	5706437	G G	GATAGATA others(394): Show GATAGATAGATAGATACATAGATAGATAGATACATAGATACATACATAGA TAGATAGATAGATAGATACATACATACATACATACATACATAGATACATA GATAGATAGATACATAGATAGATACATAGATAGATAGATACATACATACA TACATACATACATACATAGATACATAGATAGATAGATTAGATAGATACAT AGATAGATACATAGATAGATAGATAGATACATAGATACATACATAGATAG ATAGATAGATACATAGATAGATAGATACATAGATACATAGATAGATAGAT AAATACATAGATAGATAGATAGACACATAGATAGATACATAGATAGATAG ATACATAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGAT AC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0009 a0006c0010t0009	a0006c0010t0009g0325 a0006c0010t0009g0325	1	369	0.0027	401	c.-49 others(412): Show c.-4944_-4943insATAGATAGATAGATACATAGATAGATAGATACAT AGATACATACATAGATAGATAGATAGATAGATACATACATACATACATAC ATACATAGATACATAGATAGATAGATACATAGATAGATACATAGATAGAT AGATACATACATACATACATACATACATACATAGATACATAGATAGATAG ATTAGATAGATACATAGATAGATACATAGATAGATAGATAGATACATAGA TACATACATAGATAGATAGATAGATACATAGATAGATAGATACATAGATA CATAGATAGATAGATAAATACATAGATAGATAGATAGACACATAGATAGA TACATAGATAGATAGATACATAGATAGATACATAGATAGATAGATAGATA CATAGATAGATAGATAC	EVC	ENSG00000072840.13	transcript	ENST00000264956.11	protein_coding		4763		chr4	TogoVar
EVC_chr4_5706201_5819305	5706437	G G	GATAGATA others(394): Show GATAGATAGATAGATACATAGATAGATAGATACATAGATACATACATAGA TAGATAGATAGATAGATACATACATACATACATACATACATAGATACATA GATAGATAGATACATAGATAGATACATAGATAGATAGATACATACATACA TACATACATACATACATAGATACATAGATAGATAGATTAGATAGATACAT AGATAGATACATAGATAGATAGATAGATACATAGATACATACATAGATAG ATAGATAGATACATAGATAGATAGATACATAGATACATAGATAGATAGAT AGATACATAGATAGATAGATAGACACATAGATAGATACATAGATAGATAG ATACATAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGAT AC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0021 a0006c0010t0021	a0006c0010t0021g0324 a0006c0010t0021g0324	1	369	0.0027	401	c.-49 others(412): Show c.-4944_-4943insATAGATAGATAGATACATAGATAGATAGATACAT AGATACATACATAGATAGATAGATAGATAGATACATACATACATACATAC ATACATAGATACATAGATAGATAGATACATAGATAGATACATAGATAGAT AGATACATACATACATACATACATACATACATAGATACATAGATAGATAG ATTAGATAGATACATAGATAGATACATAGATAGATAGATAGATACATAGA TACATACATAGATAGATAGATAGATACATAGATAGATAGATACATAGATA CATAGATAGATAGATAGATACATAGATAGATAGATAGACACATAGATAGA TACATAGATAGATAGATACATAGATAGATACATAGATAGATAGATAGATA CATAGATAGATAGATAC	EVC	ENSG00000072840.13	transcript	ENST00000264956.11	protein_coding		4763		chr4	TogoVar
FBXO22_chr15_75898878_75947511	75918618	C C	CTGATGGT others(394): Show CTGATGGTGGATAAAGAAAATGTGGTATACATACATAATGAAATACTCTT CAGCCATAAAGGACATCCTGTCATTTGCACCAGCATGGATGAACCTGGAG GATGTTAAGTGAAATAAGCCAGGCCCAGAAAGACAAATAGTGCATGATCT CACTCATGTGTGGAATCTAAAAATGTTGCTCTCATAGAAATATAGAGTTG AATGGCAGGCACCAGGATCTGGGGTGGTTGGGAGGGGCTTTGGGGAGATG ATGGTCAAAAGATACAAAATTCGTTTTGGAGGAATAAGTTCTTGAGGTCT GTTGTACAACATGGAGACTATAGTCAGTGACCATATATTCTTTTTTTTGT TTGTTTTGGAGACAGAGTCTCACTTTGTTGCCCAGGCTGGAGTGCGGTGG CA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0072 a0001c0001t0003g0072	1	380	0.0026	401	c.628 others(418): Show c.628+1229_628+1629dupGGTGGATAAAGAAAATGTGGTATACATA CATAATGAAATACTCTTCAGCCATAAAGGACATCCTGTCATTTGCACCAG CATGGATGAACCTGGAGGATGTTAAGTGAAATAAGCCAGGCCCAGAAAGA CAAATAGTGCATGATCTCACTCATGTGTGGAATCTAAAAATGTTGCTCTC ATAGAAATATAGAGTTGAATGGCAGGCACCAGGATCTGGGGTGGTTGGGA GGGGCTTTGGGGAGATGATGGTCAAAAGATACAAAATTCGTTTTGGAGGA ATAAGTTCTTGAGGTCTGTTGTACAACATGGAGACTATAGTCAGTGACCA TATATTCTTTTTTTTGTTTGTTTTGGAGACAGAGTCTCACTTTGTTGCCC AGGCTGGAGTGCGGTGGCATGAT	FBXO22	ENSG00000167196.14	transcript	ENST00000308275.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr15	TogoVar
FHIT_chr3_59742277_61256452	59986774	A A	ATATATTT others(394): Show ATATATTTATATAAATATATAAATATATTTATATAAATATATAAATATAT TTATATAAATATATAAATATAAATATATTTATATAATATATTTATATAAA TATATAAATATATTTATATAAATATATAAATATATTTATATAAATATATA AATATATTTATATAAATATATAAATATAAATATATTTATATAAATATATA AATATAAATATATTTATATAAATATATAAATATATTTATATAAATATATA AATATATTTATATAAATATATAAATATAAATATATTTATATAAATATATA AATATAAATATATTTATATAAATATATAAATATAAATATATTATATAAAT ATATTTATATTTATATAATATATTTATATAAATATATAAATATAAATATA TT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0041 a0001c0002t0006g0041	1	46	0.0217	401	c.279 others(420): Show c.279+24596_279+24597insAATATATTTATATTTATATATTTATA TAAATATATTATATAAATATAAATATATTTATATAATATATTTATATTTA TATATTTATATAAATATATTTATATTTATATATTTATATAAATATATTTA TATTTATATATTTATATAAATATATTTATATATTTATATAAATATATTTA TATATTTATATAAATATATTTATATTTATATATTTATATAAATATATTTA TATTTATATATTTATATAAATATATTTATATATTTATATAAATATATTTA TATATTTATATAAATATATTTATATATTTATATAAATATATTATATAAAT ATATTTATATTTATATATTTATATAAATATATTTATATATTTATATAAAT ATATTTATATATTTATATAAATATA	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	7/9			chr3	TogoVar
FMN2_chr1_240086883_240480187	240185119	C C	CCCCTTCT others(394): Show CCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCT ATAACTTCCCCTTCTCTTTCTCCCTCCTACACCTTTCCCCTTCTCTTTCT CCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTT CTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCT TCCCCCTTCTCTTTCTCCCTCCTATAACTTCCCCTTCTCTTTCTCCCTCC TATACCTGCCCCTTCTCTTTCTCCCTCCTACACCTTTCCCCTTCTCTTTC TCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCT TCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATAAC TT	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0087 a0087	a0087c0044 a0087c0044	a0087c0044t0001 a0087c0044t0001	a0087c0044t0001g0012 a0087c0044t0001g0012	1	174	0.0058	401	c.193 others(420): Show c.1931-3085_1931-3084insTTCTCTTTCTCCCTCCTATACCTTCC CCCTTCTCTTTCTCCCTCCTATAACTTCCCCTTCTCTTTCTCCCTCCTAC ACCTTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTC CCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTC TCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATAACTT CCCCTTCTCTTTCTCCCTCCTATACCTGCCCCTTCTCTTTCTCCCTCCTA CACCTTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCT CCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTT CTCTTTCTCCCTCCTATAACTTCCC	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
GALNT9_chr12_132191372_132334589	132241441	C C	CCTTCCCA others(394): Show CCTTCCCAGGGACCTCCCTATCCCCATTACACACACGCCACACCCCCTTC CCGGGGCCCTCCCTATACCCATTACACACACGCCACACACCCTTCCCGGG GCCCTCCCTATCCCCATTAAACACACAACACACACCCTTCCCGGGGCCCT CCCTATACCCATTACACACACAACACACACTTCCCGGGGCCCTCCCTATC CCCATTAAACACACAACACACCCCCTTCCCGGGGCCCTCCCTATACCCAT TACACACACGCCACACACCCTTCCCGGGGCCGTCCCTATCCCCATTAAAC ACACAACACACCCCCTTCCCGGGGCCCTCCCTATCCCCATTAAACACACA ACACACCCCCTTCCCAGGGCCCTCCCTATACCCATTACACACACAACACA CA	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	183	0.0055	401	c.107 others(420): Show c.1077+6468_1077+6469insTGTGTGTTGTGTGTGTAATGGGTATA GGGAGGGCCCTGGGAAGGGGGTGTGTTGTGTGTTTAATGGGGATAGGGAG GGCCCCGGGAAGGGGGTGTGTTGTGTGTTTAATGGGGATAGGGACGGCCC CGGGAAGGGTGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGA AGGGGGTGTGTTGTGTGTTTAATGGGGATAGGGAGGGCCCCGGGAAGTGT GTGTTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGTGTGTGTT GTGTGTTTAATGGGGATAGGGAGGGCCCCGGGAAGGGTGTGTGGCGTGTG TGTAATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGGCGTGTGTGTAA TGGGGATAGGGAGGTCCCTGGGAAG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132242384	C C	CCCCTTCC others(394): Show CCCCTTCCAGGGGCCCTCCCTATACCCATTACACGCCACACCCCCTTCCC GGGGCCCTCCCTATACCCATTACACACACACCACACCCCCTTCCAGGGGC CCTCCCTATACCCATTACACACACAACACACACCCTTCCCGGGGCCCTCC CTATACCCATTACACACACGCCACACACCCTTCCCGGGGCCCTCCCTATA CCCATTACACACACAACACACACCCTTCCCGGGGCCCTCCCTATACCCAT TACACACACACCACACCCCCTTCCCGGGGCCCTCCCTATACCCATTACAC ACACAACACACCCCCTTCCCGGGGCCTTCCCTATACCCATTACACACACG CCACACCCCCTTCCAGGGGCCCTCCCTATACCCATTACACACACGCCACA CA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0025 a0001c0002t0001g0025	1	183	0.0055	401	c.107 others(420): Show c.1077+5525_1077+5526insTGTGTGGCGTGTGTGTAATGGGTATA GGGAGGGCCCCTGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAA GGCCCCGGGAAGGGGGTGTGTTGTGTGTGTAATGGGTATAGGGAGGGCCC CGGGAAGGGGGTGTGGTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGA AGGGTGTGTGTTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGT GTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGTGTGTG TTGTGTGTGTAATGGGTATAGGGAGGGCCCCTGGAAGGGGGTGTGGTGTG TGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGGCGTGTAATG GGTATAGGGAGGGCCCCTGGAAGGG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132242589	C C	CCATTACA others(394): Show CCATTACACACACAACACACACTTCCCGGGGCCCTCCCTATACCCATTAC ACACACAACACACCCTTTCAGGGGCCCTCCCTATCCCCATTACACACACG CCACACACCCTTCCAGGGGCCCTCCCTATACCCATTACACACACGCCACA CACCCTTCCCAGGGCCGTCCCTATACCCATTACACACACAACACACACCC TTCCCGGGGCCCTCCCTATACACATTACACACACACCACACCCCCTTCCC AGGGCCCTCCCTATCCCCATTACACACACACCACACCCCCTTCCCAGGGC CCTCCCTATCCCCATTACACACACAACACACACCCTTCCCAGGGCCCTCC CTATCCCCATTACACACACAACACACACCCTTCCCGGGGCCCTCCCTATA CA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0041 a0001c0041	a0001c0041t0015 a0001c0041t0015	a0001c0041t0015g0178 a0001c0041t0015g0178	1	183	0.0055	401	c.107 others(420): Show c.1077+5320_1077+5321insTGTATAGGGAGGGCCCCGGGAAGGGT GTGTGTTGTGTGTGTAATGGGGATAGGGAGGGCCCTGGGAAGGGTGTGTG TTGTGTGTGTAATGGGGATAGGGAGGGCCCTGGGAAGGGGGTGTGGTGTG TGTGTAATGGGGATAGGGAGGGCCCTGGGAAGGGGGTGTGGTGTGTGTGT AATGTGTATAGGGAGGGCCCCGGGAAGGGTGTGTGTTGTGTGTGTAATGG GTATAGGGACGGCCCTGGGAAGGGTGTGTGGCGTGTGTGTAATGGGTATA GGGAGGGCCCCTGGAAGGGTGTGTGGCGTGTGTGTAATGGGGATAGGGAG GGCCCCTGAAAGGGTGTGTTGTGTGTGTAATGGGTATAGGGAGGGCCCCG GGAAGTGTGTGTTGTGTGTGTAATG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GPBP1_chr5_57169059_57269673	57249839	T T	TCCCGTCC others(394): Show TCCCGTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCC TCCTTCCCCCTCCCCTCCTTCCCCCTCCTCTCCTTCCCCCTCCCCTCCTT CCCCCTCCCCTCCTTTCCCCTCCCCTCCTTGCACCTCCCCTTCCCCCCCA CCTCCTTCCGCCTCCCCCTACCCTTCCCCCTCACCTTCCCCTCCTTCCCC CCTCCCCTTCCCCTCCTTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTC TTCCTTCCCCCTCCCCCTTCCCCACCTTCCCCCTCCCCCTTCCCCTCCTT CCCCCTCCCCTCCTTCCCCTTTCCCCCTCCCCTCCTTCCCCTTTCCCCCT TCCCCCTCCCCTCCTTCCCCCTTCCCCCTTCCCTCCTTCCCCCTTCCCCC TC	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0122 a0001c0002t0003g0122	1	290	0.0035	401	c.972 others(416): Show c.972+266_972+267insGTCCTTCCCCCTCCCCTCCTTCCCCCTCCC CTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCTCTCCT TCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTTCCCCTCCCCTCCTTGCAC CTCCCCTTCCCCCCCACCTCCTTCCGCCTCCCCCTACCCTTCCCCCTCAC CTTCCCCTCCTTCCCCCCTCCCCTTCCCCTCCTTCCCCTTCCCCATCCTC CTCCTTCCCCATCCTCTTCCTTCCCCCTCCCCCTTCCCCACCTTCCCCCT CCCCCTTCCCCTCCTTCCCCCTCCCCTCCTTCCCCTTTCCCCCTCCCCTC CTTCCCCTTTCCCCCTTCCCCCTCCCCTCCTTCCCCCTTCCCCCTTCCCT CCTTCCCCCTTCCCCCTCCCC	GPBP1	ENSG00000062194.16	transcript	ENST00000506184.7	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
IFNAR1_chr21_33319970_33364864	33322909	T T	TGGAATAT others(394): Show TGGAATATATATATGGAATATATATATGGAATATATATATGGAATATATA TATGGAATATATATATGGAATATATATATGGAATATATATATGGAATATA TATATGGAATATATATGGAATACATATATATGGAATATATATATGGAATA CATATATATGGAATACATATATATGGAATACACATATGGAATACATATAT ATGGAATACACATATGGAATACATATATATGGAATACACATATGGAATAC ATATATATGGAATACATATATGGAATACATATATATGGAATACATATATG GAATACATATATATGGAATACATATATGGAATACATATATATGGAATACA TATATGGAATACATATATGTGGAATACATATATGGAATATATATATATGT GG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0247 a0002c0004t0002g0247	1	323	0.0031	401	c.-21 others(412): Show c.-2147_-2146insGGAATATATATATGGAATATATATATGGAATATA TATATGGAATATATATATGGAATATATATATGGAATATATATATGGAATA TATATATGGAATATATATATGGAATATATATGGAATACATATATATGGAA TATATATATGGAATACATATATATGGAATACATATATATGGAATACACAT ATGGAATACATATATATGGAATACACATATGGAATACATATATATGGAAT ACACATATGGAATACATATATATGGAATACATATATGGAATACATATATA TGGAATACATATATGGAATACATATATATGGAATACATATATGGAATACA TATATATGGAATACATATATGGAATACATATATGTGGAATACATATATGG AATATATATATATGTGG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2060		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33323222	T T	TATATATG others(394): Show TATATATGTATGGAATATATATGTATGGAATATATGTATGGAATATATAT GTATGGAATATATATATGGAATATATATATGGAATATATATGTATGGAAT ATACATATGGAATATATATGTATGGAATATACATATGGAATATATATGTT TGGAATATATATATATGGAATATATATGTATGGAATATATATATATGGAA TATATGTATGGAATATATATATGGAATATATGTATGGAATATATATATAT GGAATATATGTATGGAATATATATATATGGAATATATGTATGGAATATAT ATATGGAATATATGTATGGAATATATATATGGAATATATGTATATGGAAT ATATATATGGAATATATATATATGGAATATATATGGAATATATATATATG GA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	323	0.0031	401	c.-18 others(412): Show c.-1834_-1833insATATATGTATGGAATATATATGTATGGAATATAT GTATGGAATATATATGTATGGAATATATATATGGAATATATATATGGAAT ATATATGTATGGAATATACATATGGAATATATATGTATGGAATATACATA TGGAATATATATGTTTGGAATATATATATATGGAATATATATGTATGGAA TATATATATATGGAATATATGTATGGAATATATATATGGAATATATGTAT GGAATATATATATATGGAATATATGTATGGAATATATATATATGGAATAT ATGTATGGAATATATATATGGAATATATGTATGGAATATATATATGGAAT ATATGTATATGGAATATATATATGGAATATATATATATGGAATATATATG GAATATATATATATGGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1747		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33323542	A A	ATGTGGAA others(394): Show ATGTGGAATATATATATGTGGAATATATATATGTGGAATATATATGTGGA ATATATATATGTGGAATATATATGTGGAATATATATGTGGAATATATATG TGGAATATATATGTGGAATATATATATATGGAATATATATGTGGAATATA TATATATGGAATATATATGTGGAATATATATATATGGAATATATATGTGG AATATATATATATGGAATATATATGTGGAATATATATATATGGAATATAT ATGTGGAATATATATATATGGAATATATATGTGGAATATATATATGGAAT ATATATATATGGAATATATATGTGGAATATATATATATGGAATATATATG TGGAATATATATATATGGAATATATGTGGAATATATATATATGGAATATA TG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0120 a0001c0001t0022g0120	1	323	0.0031	401	c.-15 others(412): Show c.-1514_-1513insTGTGGAATATATATATGTGGAATATATATATGTG GAATATATATGTGGAATATATATATGTGGAATATATATGTGGAATATATA TGTGGAATATATATGTGGAATATATATGTGGAATATATATATATGGAATA TATATGTGGAATATATATATATGGAATATATATGTGGAATATATATATAT GGAATATATATGTGGAATATATATATATGGAATATATATGTGGAATATAT ATATATGGAATATATATGTGGAATATATATATATGGAATATATATGTGGA ATATATATATGGAATATATATATATGGAATATATATGTGGAATATATATA TATGGAATATATATGTGGAATATATATATATGGAATATATGTGGAATATA TATATATGGAATATATG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1427		chr21	TogoVar
INPP5E_chr9_136423619_136444845	136431767	C C	CTCCCCCC others(394): Show CTCCCCCCACCCGCCGCAGGCCCTCACCTTTCCTCATCTCCCGCCACGCC CGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCC CAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCT CACCTCTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTCTC CTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTC CCGCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACG CCCGCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCC CCAGGCCCTCACCTCTCCTCATCTCCCACCACGCCCACCCTCCCCCCACC CG	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0005 a0002c0010t0005	a0002c0010t0005g0187 a0002c0010t0005g0187	1	382	0.0026	401	c.154 others(416): Show c.1549+56_1549+57insCGGGTGGGGGGAGGGTGGGCGTGGTGGGAG ATGAGGAGAGGTGAGGGCCTGGGGGGGCGGGCGTGGAGGGAGATGAGGAA AGGTGAGGGCCTGGGGGGCGGGCGTGGAGGGAGATGAGGAGAGGTGAGGG CCTGGGGGGGCGGGCGTGGCGGGAGATGAGGAGAGGTGAGGGCCTGGGGG GGCGGGCGTGGAGGGAGATGAGGAGAGGTGAGGGCCTGGGGGGGCGGGCG TGGCGGGAGATGAGGAGAGGTGAGGGCCTGGGGGGGCGGGCGTGGAGGGA GATGAGGAGAGGTGAGGGCCTGGGGGGGCGGGCGTGGAGGGAGATGAGGA GAGGTGAGGGCCTGGGGGGGCGGGCGTGGCGGGAGATGAGGAAAGGTGAG GGCCTGCGGCGGGTGGGGGGA	INPP5E	ENSG00000148384.14	transcript	ENST00000371712.4	protein_coding	7/9			chr9	TogoVar
INSR_chr19_7107265_7299414	7153367	C C	CCACACAC others(394): Show CCACACACACCACACACCACACACACCAAACACACCATACATGCACCACA CACACACCACATGCACACCTCACACACCATACCACACACCACACACACCA CACAAATCACACACATACTACACACACCCACGCCACACACCACACACACA CCACACACGCCACACAACGGACCACACATACACCACACACCACAAACACA ACCACACACACACTATACACACACACCACACACACCACACAACAGACCAC ACATACACACACCACACACCACACACACCATACACACACACCACACATAC CACACACACCACACACACAACCACACACACACACCACACACACAACACAC AACAGACCACACATACACACACCACAAACACAACCACACACACCACACCA TA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00438.hp2 others(60): Show HG00323.hp1 HG00323.hp2 HG00438.hp2 HG00609.hp2 HG00642.hp1 HG00741.hp1 HG00741.hp2 HG01081.hp1 HG01167.hp1 HG01169.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01346.hp2 HG01358.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp2 HG01978.hp1 HG02004.hp2 HG02040.hp2 HG02083.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02523.hp1 HG02630.hp2 HG02647.hp1 HG02895.hp1 HG02897.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03239.hp1 HG03540.hp2 HG03688.hp1 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG04184.hp2 HG04228.hp2 NA18747.hp1 NA18942.hp1 NA18948.hp1 NA18948.hp2 NA18955.hp1 NA18956.hp1 NA18972.hp1 NA18985.hp1 NA18993.hp2 NA19011.hp1 NA19064.hp2 NA19079.hp1 NA19084.hp2 NA20300.hp2 NA20752.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0003 others(13): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0013 a0001c0014 a0001c0017 a0001c0021 a0001c0023 a0001c0026 a0001c0030 a0001c0042 a0006c0054	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(47): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0029 a0001c0001t0036 a0001c0001t0097 a0001c0001t0100 a0001c0001t0110 a0001c0001t0139 a0001c0002t0001 a0001c0002t0005 a0001c0002t0007 a0001c0002t0022 a0001c0002t0026 a0001c0002t0042 a0001c0002t0049 a0001c0002t0087 a0001c0002t0115 a0001c0002t0142 a0001c0002t0152 a0001c0003t0005 a0001c0003t0006 a0001c0003t0017 a0001c0003t0034 a0001c0003t0059 a0001c0003t0063 a0001c0003t0162 a0001c0004t0001 a0001c0004t0003 a0001c0004t0017 a0001c0004t0024 a0001c0004t0126 a0001c0004t0154 a0001c0005t0064 a0001c0007t0040 a0001c0008t0027 a0001c0013t0130 a0001c0014t0006 a0001c0017t0001 a0001c0017t0033 a0001c0021t0033 a0001c0023t0062 a0001c0023t0167 a0001c0026t0006 a0001c0030t0089 a0001c0042t0124 a0006c0054t0031	a0001c0001t0001g0272 a0001c0001t0002g0007 a0001c0001t0007g0175 others(60): Show a0001c0001t0001g0272 a0001c0001t0002g0007 a0001c0001t0007g0175 a0001c0001t0009g0196 a0001c0001t0010g0014 a0001c0001t0010g0028 a0001c0001t0011g0013 a0001c0001t0029g0256 a0001c0001t0036g0250 a0001c0001t0097g0159 a0001c0001t0100g0126 a0001c0001t0110g0242 a0001c0001t0139g0129 a0001c0002t0001g0132 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0172 a0001c0002t0001g0181 a0001c0002t0001g0213 a0001c0002t0001g0223 a0001c0002t0001g0235 a0001c0002t0001g0238 a0001c0002t0005g0231 a0001c0002t0007g0203 a0001c0002t0022g0003 a0001c0002t0026g0081 a0001c0002t0042g0022 a0001c0002t0049g0034 a0001c0002t0087g0268 a0001c0002t0115g0282 a0001c0002t0142g0174 a0001c0002t0152g0218 a0001c0003t0005g0236 a0001c0003t0006g0061 a0001c0003t0017g0130 a0001c0003t0034g0214 a0001c0003t0059g0075 a0001c0003t0063g0065 a0001c0003t0162g0293 a0001c0004t0001g0150 a0001c0004t0003g0093 a0001c0004t0003g0094 a0001c0004t0003g0189 a0001c0004t0017g0163 a0001c0004t0024g0027 a0001c0004t0126g0211 a0001c0004t0154g0239 a0001c0005t0064g0072 a0001c0007t0040g0020 a0001c0008t0027g0085 a0001c0008t0027g0086 a0001c0013t0130g0248 a0001c0014t0006g0062 a0001c0017t0001g0139 a0001c0017t0033g0170 a0001c0021t0033g0121 a0001c0023t0062g0019 a0001c0023t0167g0299 a0001c0026t0006g0051 a0001c0026t0006g0055 a0001c0030t0089g0112 a0001c0042t0124g0103 a0006c0054t0031g0237	63	300	0.2100	401	c.203 others(418): Show c.2030-441_2030-440insTATGGTGTGGTGTGTGTGGTTGTGTTTG TGGTGTGTGTATGTGTGGTCTGTTGTGTGTTGTGTGTGTGGTGTGTGTGT GTGGTTGTGTGTGTGGTGTGTGTGGTATGTGTGGTGTGTGTGTATGGTGT GTGTGGTGTGTGGTGTGTGTATGTGTGGTCTGTTGTGTGGTGTGTGTGGT GTGTGTGTATAGTGTGTGTGTGGTTGTGTTTGTGGTGTGTGGTGTATGTG TGGTCCGTTGTGTGGCGTGTGTGGTGTGTGTGTGGTGTGTGGCGTGGGTG TGTGTAGTATGTGTGTGATTTGTGTGGTGTGTGTGGTGTGTGGTATGGTG TGTGAGGTGTGCATGTGGTGTGTGTGTGGTGCATGTATGGTGTGTTTGGT GTGTGTGGTGTGTGGTGTGTGTG	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	9/21			chr19	TogoVar
IQSEC3_chr12_61767_183455	103862	C C	CGGGGCTC others(394): Show CGGGGCTCGGGGGGTAGGTGGGGGCTCAGGAGGGGAGGCGGGGCTCAGGC AGGAGAGGTGGGACTCAGGTGGGGAGGCAGGACTCAGGAGGGAGAGGTGG AGTTCAGGAGGGGAGGCGGGGCTCGGGGGGTAGGTGGGGGCTCAGGAGGG GAGGTGGGACTCAGGAGGGAGAGGTGGAGTTCAGGGGGGAGGCAGGGCTG GGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGG GCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGGCTCGGGGGGA GGCGGGGGCTCTGGAGGGGAGGCGGGGGCTCGGGGGGGGAGGCGGGGCTC AGGAGGGGAGGCGGGGCTCGGGGGGAGGCGGGGGGCTCGGGAGGGGAGGC GG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0013 a0002c0001t0013	a0002c0001t0013g0011 a0002c0001t0013g0011	1	282	0.0036	401	c.623 others(418): Show c.623+4650_623+4651insGGCTCGGGGGGTAGGTGGGGGCTCAGGA GGGGAGGCGGGGCTCAGGCAGGAGAGGTGGGACTCAGGTGGGGAGGCAGG ACTCAGGAGGGAGAGGTGGAGTTCAGGAGGGGAGGCGGGGCTCGGGGGGT AGGTGGGGGCTCAGGAGGGGAGGTGGGACTCAGGAGGGAGAGGTGGAGTT CAGGGGGGAGGCAGGGCTGGGGGGAGGCGGGGCTCTGGAGGGGAGGCGGG GCTCGGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGG AGGCGGGGGCTCGGGGGGAGGCGGGGGCTCTGGAGGGGAGGCGGGGGCTC GGGGGGGGAGGCGGGGCTCAGGAGGGGAGGCGGGGCTCGGGGGGAGGCGG GGGGCTCGGGAGGGGAGGCGGGG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
KCNIP4_chr4_20723606_21953772	21346215	T T	TTATATAT others(394): Show TTATATATATAATTCTATATATATAATATATATTATATATATAATTCTAT ATATATAATATATATTATATATATATAATTCTATATATATATAATTCTAT ATATATATATATATCTATATATATATAATTCTATATATATATAATTCTAT ATATATATAATTATATATATATAATTCTATATATATAATATATATTATAT ATATATTCTATATATATAATATATATTATATATATAATTCTATATATATA ATATATTATATATATAATTCTATATATATAATATATTATATATATAATAT ATATTATATATATAATTCTATATATATAATATATATTATATATATAATTC TATATATATAATATATATTATATATATAATTCTATATATATAATATATAT TA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	80	0.0125	401	c.62- others(420): Show c.62-463507_62-463506insTAATATATATTATATATATAGAATTA TATATATAATATATATTATATATATAGAATTATATATATAATATATATTA TATATATAGAATTATATATATAATATATATTATATATATAATATATTATA TATATAGAATTATATATATAATATATTATATATATAGAATTATATATATA ATATATATTATATATATAGAATATATATATAATATATATTATATATATAG AATTATATATATATAATTATATATATATAGAATTATATATATATAGAATT ATATATATATAGATATATATATATATATAGAATTATATATATATAGAATT ATATATATATAATATATATTATATATATAGAATTATATATATAATATATA TTATATATATAGAATTATATATATA	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21346215	T T	TTATATAT others(394): Show TTATATATATAATTCTATATATATAATATATATTATATATATAATTCTAT ATATATAATATATATTATATATATATAATTCTATATATATATAATTCTAT ATATATATATCTATATATATATAATTCTATATATATATATAATTCTATAT ATATATAATTATATATATATAATTCTATATATATAATATATATTATATAT ATATTCTATATATATAATATATATTATATATATAATTCTATATATATAAT ATATTATATATATAATATATATTATATATATAATTCTATATATATAATAT ATATTATATATATAATTCTATATATATAATATATATTATATATATAATTC TATATATATAATATATATTATATATATAATTCTATATATATAATATATAT TA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0048 a0001c0002t0004g0048	1	80	0.0125	401	c.62- others(420): Show c.62-463507_62-463506insTAATATATATTATATATATAGAATTA TATATATAATATATATTATATATATAGAATTATATATATAATATATATTA TATATATAGAATTATATATATAATATATATTATATATATAGAATTATATA TATAATATATATTATATATATAATATATTATATATATAGAATTATATATA TAATATATATTATATATATAGAATATATATATAATATATATTATATATAT AGAATTATATATATATAATTATATATATATAGAATTATATATATATATAG AATTATATATATATAGATATATATATATAGAATTATATATATATAGAATT ATATATATATAATATATATTATATATATAGAATTATATATATAATATATA TTATATATATAGAATTATATATATA	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNK2_chr1_215077737_215242090	215209559	T T	TATATATA others(394): Show TATATATATAAAATAGATATTATATATAAAATATATAAAATAGATATATA TAAAATATATAAAATAGATATTATATATAAAATATATATAATATATATAT AAAATAGATATTATATATAAAATATATATTATATATTATATAAAATATAT ATTATATATTATATAATATATAATATATATTATATATATTATATATTATA TATTAAATATATATTATATATATAAAATATATATAAAATATATATTATAT AAAATATATATAAAATATATATTATATAAAATATATATAAAATATATATT ATATAAAATATATATTATATATAAAATATATAATATATATAAAATATATA CTATATATAAAATATATAATATATAAAATATATACTATATATAAAATATA TA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0249 a0001c0002t0016g0249	1	260	0.0039	401	c.963 others(420): Show c.963+14477_963+14478insAATAGATATTATATATAAAATATATA AAATAGATATATATAAAATATATAAAATAGATATTATATATAAAATATAT ATAATATATATATAAAATAGATATTATATATAAAATATATATTATATATT ATATAAAATATATATTATATATTATATAATATATAATATATATTATATAT ATTATATATTATATATTAAATATATATTATATATATAAAATATATATAAA ATATATATTATATAAAATATATATAAAATATATATTATATAAAATATATA TAAAATATATATTATATAAAATATATATTATATATAAAATATATAATATA TATAAAATATATACTATATATAAAATATATAATATATAAAATATATACTA TATATAAAATATATAATATATATAA	KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNK2_chr1_215077737_215242090	215209560	A A	ATATATAT others(394): Show ATATATATAAAATAGATATTATATATAAAATATATAAAATAGATATATAT AAAATATATAAAATAGATATTATATATAAAATATATATAATATATATATA AAATAGATATTATATATAAAATATATATTATATATTATATAAAATATATA TTATATATTATATAATATATAATATATATTATATATATTATATATTATAT ATTAAATATATATTATATATATAAAATATATATAAAATATATATTATATA AAATATATATAAAATATATATTATATAAAATATATATAAAATATATATTA TATAAAATATATATTATATATAAAATATATAATATATATAAAATATATAC TATATATAAAATATATAATATATAAAATATATACTATATATAAAATATAT AT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0174 a0001c0002t0006g0174	1	260	0.0039	401	c.963 others(420): Show c.963+14477_963+14478insAATAGATATTATATATAAAATATATA AAATAGATATATATAAAATATATAAAATAGATATTATATATAAAATATAT ATAATATATATATAAAATAGATATTATATATAAAATATATATTATATATT ATATAAAATATATATTATATATTATATAATATATAATATATATTATATAT ATTATATATTATATATTAAATATATATTATATATATAAAATATATATAAA ATATATATTATATAAAATATATATAAAATATATATTATATAAAATATATA TAAAATATATATTATATAAAATATATATTATATATAAAATATATAATATA TATAAAATATATACTATATATAAAATATATAATATATAAAATATATACTA TATATAAAATATATATTATATATAA	KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
KIF1A_chr2_240708767_240825219	240786744	G G	GCCCCTGA others(394): Show GCCCCTGAGTGAGGGGTGGGGGACGCCATCAGGACCCCTGAGTGAGAGGG TAGGGGCCACCATCAGGAACCCTGAGTGAGAGGGTGGGGGCCAGTATCAG GACCCCTGAGTGAGAGGGTAGGGGCCACCATCAGGACCCCTGAGAGAGAG GGTAGGGGCCACCATCAGGAACCCTGAGTGAGAGGGTAGGGGCCACCATC AGGAACCCTGAGTGAGAGGGTGGGGGCCAGTATCAGGACCCCTGAGTGAG GGGGTGGGGGCCACCACCAGGACCCCTGAGGGGATGGGAGCCAGCATCAG GACCCCTGAGTAAAGGGGTGGGGGCTGCCTGCTGGGCCCCTGAGTGAGGG GTAGGGGCTGCCATCAGGACCCCTGAGTGAGGGGTAGGGGCTGCCATCAG GA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0007	a0001c0005t0007g0019 a0001c0005t0007g0019	1	330	0.0030	401	c.430 others(416): Show c.430-232_430-231insTCCTGATGGCAGCCCCTACCCCTCACTCAG GGGTCCTGATGGCAGCCCCTACCCCTCACTCAGGGGCCCAGCAGGCAGCC CCCACCCCTTTACTCAGGGGTCCTGATGCTGGCTCCCATCCCCTCAGGGG TCCTGGTGGTGGCCCCCACCCCCTCACTCAGGGGTCCTGATACTGGCCCC CACCCTCTCACTCAGGGTTCCTGATGGTGGCCCCTACCCTCTCACTCAGG GTTCCTGATGGTGGCCCCTACCCTCTCTCTCAGGGGTCCTGATGGTGGCC CCTACCCTCTCACTCAGGGGTCCTGATACTGGCCCCCACCCTCTCACTCA GGGTTCCTGATGGTGGCCCCTACCCTCTCACTCAGGGGTCCTGATGGCGT CCCCCACCCCTCACTCAGGGG	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	5/48			chr2	TogoVar
KIF1A_chr2_240708767_240825219	240786744	G G	GCCCCTGA others(394): Show GCCCCTGAGTGAGGGGTGGGGGCTGCCATCAGGACCCCTGAGTGAGGGGG TGGGGGCCACCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCTGCTG GGCCCCTGAGTGAGGGGTGGGGGACGCCATCAGGACCCCTGAGTGAGAGG GTAGGGGCCACCATCAGGACCCCTGAGTGAGAGGGTAGGGGCCACCATCA GGAACCCTGAGTGAGAGGGTAGGGGCCACCATCAGGAACCCTGAGTGAGA GGGTGGGGGCCAGTATCAGGACCCCTGAGTGAGGGGGTGGGGGCCACCAC CAGGACCCCTGAGGGGATGGGAGCCAGCATCAGGACCCCTGAGTAAAGGG GTGGGGGCTGCCTGCTGGGCCCCTGAGTGAGGGGTAGGGGCTGCCATCAG GA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0007	a0001c0005t0007g0137 a0001c0005t0007g0137	1	330	0.0030	401	c.430 others(416): Show c.430-232_430-231insTCCTGATGGCAGCCCCTACCCCTCACTCAG GGGCCCAGCAGGCAGCCCCCACCCCTTTACTCAGGGGTCCTGATGCTGGC TCCCATCCCCTCAGGGGTCCTGGTGGTGGCCCCCACCCCCTCACTCAGGG GTCCTGATACTGGCCCCCACCCTCTCACTCAGGGTTCCTGATGGTGGCCC CTACCCTCTCACTCAGGGTTCCTGATGGTGGCCCCTACCCTCTCACTCAG GGGTCCTGATGGTGGCCCCTACCCTCTCACTCAGGGGTCCTGATGGCGTC CCCCACCCCTCACTCAGGGGCCCAGCAGGCAGCCCCCACCCCCTCACTCA GGGGTCCTGATGGTGGCCCCCACCCCCTCACTCAGGGGTCCTGATGGCAG CCCCCACCCCTCACTCAGGGG	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	5/48			chr2	TogoVar
LHPP_chr10_124456823_124619141	124471627	T T	TATTTATA others(394): Show TATTTATATATATATTTTTATATATATTTATATATATTTATATATATATT TATATATATATTTATATATATTTATATATATTTATATATATATTTATATA TATATTTATATATATTTATATATATTTATATATATATTTATATATATATT TATATATATATTTATATATATTTATATATATATATTTTTATATATATTTA TATATATTTTTATATATAGTTATATATATTTATATATAGTTATATATATT TATATATAGTTATGTATAGTTATATATAGTTATATATATAGTTATATATA GTTATATATATAGTTATATATATATATTTTTATATATATATTTATATATA TTTATATATATTTATATATATTTATATATATATTTATATATTTATATATG TA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG01257.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0126 a0001c0001t0001g0091 a0001c0001t0001g0126	2	260	0.0077	401	c.125 others(418): Show c.125+9640_125+9641insATTTATATATATATTTTTATATATATTT ATATATATTTATATATATATTTATATATATATTTATATATATTTATATAT ATTTATATATATATTTATATATATATTTATATATATTTATATATATTTAT ATATATATTTATATATATATTTATATATATATTTATATATATTTATATAT ATATATTTTTATATATATTTATATATATTTTTATATATAGTTATATATAT TTATATATAGTTATATATATTTATATATAGTTATGTATAGTTATATATAG TTATATATATAGTTATATATAGTTATATATATAGTTATATATATATATTT TTATATATATATTTATATATATTTATATATATTTATATATATTTATATAT ATATTTATATATTTATATATGTA	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6			chr10	TogoVar
LMF1_chr16_848634_975984	857623	A A	ACGGGACG others(394): Show ACGGGACGGGTGTGAGTGGTGTCACGGGACCGGTGTGAGTGGTGTCTCGG GACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGAC GGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGATGGGT GTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGC AGTGGTGTCACGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGCAG TGGTGTCTCGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGCAGTG CTGTCACGGGATGGGTGTGCAGTGCTGTCACGGGATGGGTGTGCAGTGGT GTCTCGGGATGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGT CT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0001 a0001c0020t0001	a0001c0020t0001g0100 a0001c0020t0001g0100	1	294	0.0034	401	c.153 others(420): Show c.1530-2918_1530-2917insAGACACCACTGCACACCCGTCCCGAG ACACCACTGCACACCCATCCCGAGACACCACTGCACACCCATCCCGTGAC AGCACTGCACACCCATCCCGTGACAGCACTGCACACCCATCCCGAGACAC CACTGCACACCCATCCCGAGACACCACTGCACACCCATCCCGAGACACCA CTGCACACCCATCCCGTGACACCACTGCACACCCATCCCGAGACACCACT CACACCCATCCCGAGACACCACTCACACCCATCCCGAGACACCACTCACA CCCGTCCCGTGACACCACTCACACCCGTCCCGAGACACCACTCACACCCG TCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTCACACCGGTCC CGTGACACCACTCACACCCGTCCCG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	857729	C C	CAGTGGTG others(394): Show CAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCA GTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGT GGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGG TGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTC TCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGG GACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGAC GGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGG TGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTG CA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0001 a0003c0015t0001	a0003c0015t0001g0014 a0003c0015t0001g0014	1	294	0.0034	401	c.153 others(420): Show c.1530-3024_1530-3023insTGCACACCCGTCCCGTGACACCACTC ACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACAC CCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCC GTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCC CGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGTG ACACCACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACA CCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGTGACACC ACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCAC TGCACACCCGTCCCGTGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	857798	G G	GAGTGGTG others(394): Show GAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCA GTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGT GGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGG TGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGT CACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCG GGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGA CGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGG GTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGT GC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	294	0.0034	401	c.153 others(420): Show c.1530-3093_1530-3092insGCACACCCGTCCCGTGACACCACTCA CACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACC CGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCG TCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCC GAGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGA CACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACA CCACTGCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGAGACACC ACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGTGACACCAC TGCACACCCGTCCCGAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LRRC27_chr10_132327193_132386508	132364601	C C	CACCCACA others(394): Show CACCCACACTTACACCCACCCACACTTACACCCACCCTTACATCTACCTC CACACCCACACTCACACCCACCCACACTCACACCCACCCACACTCACACC CACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACACTTACA CCCACACTTACATCTACCTCCACGCCCACACTCACACCCACCCACACTCA CACCCACCCACACTTACACCCACCCACACTCACACCCACCCACACTTACA CCCACCCTTACATCTACCTCCACGCCCACACTCACACCCACCCACACTTA CACCCACCCTTACATCTACCTCCACGCCCACACTCACACCCACCCACACT TACACCCACCCTTACATCTACCTCCACGCCCACACTCACACCCACCCACA CT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0006 a0008c0012t0006	a0008c0012t0006g0099 a0008c0012t0006g0099	1	290	0.0035	401	c.129 others(418): Show c.1290-823_1290-822insACCCACACTTACACCCACCCACACTTAC ACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTC ACACCCACCCACACTCACACCCACCCACACTTACACCCACGCTTACATCT ACCTCCACACCCACACTTACACCCACACTTACATCTACCTCCACGCCCAC ACTCACACCCACCCACACTCACACCCACCCACACTTACACCCACCCACAC TCACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACGCCCAC ACTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACGCCC ACACTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACGC CCACACTCACACCCACCCACACT	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10			chr10	TogoVar
MAGI1_chr3_65348526_66043918	65855620	A A	AGAGAGGG others(394): Show AGAGAGGGGAGGGGACGGGGGGAGGAGAGAGGGGAGGGGACAGGGAAGGG GAAAGGGGAGGGTAGAGGGCAGGAGAGAGTGAAGGGGAGGGGGAGGGAAG AGGGGAGGGGAGAGGGGGAGGGGAGAAGGGAGGGGAGAGGGGAGGGGAGA AGGGGAGGGGACAGGGGAGGGGAGGGGAGAGGGGGAGGGACAGGGGGAGG GGAGGGGGAGAGGGGAGGGGAGAGGGGAGGGGGAGAGGGGAGGGGAGAGG GGGGAGGGGAGAAGGGAGGGGAGAAGGGAGGGGAGAGGGGAGGGGAGAGG GGAGAGGGGAGAGGAAGGGAGAGGGGAGGGGAGAGGGGAGGGGAGAAGGG AGGGGAGAGGGGAGGGGAGAGGGGAGGGGAGAGGGGAGGGGAGAGGGGAG GG	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0069 a0002c0002t0001g0069	1	104	0.0096	401	c.313 others(422): Show c.313+182375_313+182376insCCCTCCCCTCTCCCCTCCCCTCTC CCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCTTCTCCCCTCCCCTCTCCC CTCCCCTCTCCCTTCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCT CCCTTCTCCCCTCCCTTCTCCCCTCCCCCCTCTCCCCTCCCCTCTCCCCC TCCCCTCTCCCCTCCCCTCTCCCCCTCCCCTCCCCCTGTCCCTCCCCCTC TCCCCTCCCCTCCCCTGTCCCCTCCCCTTCTCCCCTCCCCTCTCCCCTCC CTTCTCCCCTCCCCCTCTCCCCTCCCCTCTTCCCTCCCCCTCCCCTTCAC TCTCTCCTGCCCTCTACCCTCCCCTTTCCCCTTCCCTGTCCCCTCCCCTC TCTCCTCCCCCCGTCCCCTCCCCTCTC	MAGI1	ENSG00000151276.24	transcript	ENST00000402939.7	protein_coding	1/22			chr3	TogoVar
MED16_chr19_862963_898187	877901	C C	CCCAGCCG others(394): Show CCCAGCCGCACATGCCCCAGCAGCTCACCTTTCCCTGGTTGTCAATGCCC ACCAGGGCCATGCCCCAGCAGCTCGCCTTCCCCTGGTTGTCAATGCCCAG CAGCTCGCCTTCCCCTGGTTGTCAATGCCCACCAGCCCCAGCCCCACGTG CCCCAGCAGCTCACCTTCCCCTGGCTGTCAATGCCCACCAGCCCCAGCAG CTCACCTTCCCCTGGCTGTCAATCCCCACCAGGGCCAGCCCCACGTGCCC CAGCAGCTCACCTTCCCCTGGTTGTCAATGCCCACCAGCCCCAGCCCCAC ATGCCCCAGCAGCTCACCTTCCCCTGGTTGTCAATGCCCACCAGCCCCAG CCCCACATGCCCCAGCAGCTCACCTTCCCCTGGCTGTCAATCCCCACCAG GG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	56	0.0179	401	c.135 others(418): Show c.1354-722_1354-721insCCCTGGTGGGGATTGACAGCCAGGGGAA GGTGAGCTGCTGGGGCATGTGGGGCTGGGGCTGGTGGGCATTGACAACCA GGGGAAGGTGAGCTGCTGGGGCATGTGGGGCTGGGGCTGGTGGGCATTGA CAACCAGGGGAAGGTGAGCTGCTGGGGCACGTGGGGCTGGCCCTGGTGGG GATTGACAGCCAGGGGAAGGTGAGCTGCTGGGGCTGGTGGGCATTGACAG CCAGGGGAAGGTGAGCTGCTGGGGCACGTGGGGCTGGGGCTGGTGGGCAT TGACAACCAGGGGAAGGCGAGCTGCTGGGCATTGACAACCAGGGGAAGGC GAGCTGCTGGGGCATGGCCCTGGTGGGCATTGACAACCAGGGAAAGGTGA GCTGCTGGGGCATGTGCGGCTGG	MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding	8/15			chr19	TogoVar
MLIP_chr6_54106443_54271280	54251553	A A	ATTATATA others(394): Show ATTATATATTTATATATTTATATATATAATATATATTATATAATATATAA TATATATTATATAATATAAAATATATATTATATTATATTATATTATGTAT TATATAATATAATATATAATATTATATATTATAATATATATTATAATATA TAATATATAATATTATATATTATAATATATATTATATTATATAATATTAT ATATTATATTATATAATATATAATATAATATAATATATTATATTATATAA TATTATATAATATATAATATTATATTATATTATATATTATATATTATATT ATATAATATATAATATTATATATATTATAACATAATATATAATATAAATA TATATTATAGCATATAATATATAATACAAATATATATTATAGCATATAAT AT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01243.hp2 NA18522.hp2 HG01069.hp2 HG01243.hp2 NA18522.hp2	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0002 a0009c0012t0002	a0009c0012t0002g0029 a0009c0012t0002g0030 a0009c0012t0002g0031 a0009c0012t0002g0029 a0009c0012t0002g0030 a0009c0012t0002g0031	3	248	0.0121	401	c.292 others(420): Show c.2923-5755_2923-5754insTTATATATTTATATATTTATATATAT AATATATATTATATAATATATAATATATATTATATAATATAAAATATATA TTATATTATATTATATTATGTATTATATAATATAATATATAATATTATAT ATTATAATATATATTATAATATATAATATATAATATTATATATTATAATA TATATTATATTATATAATATTATATATTATATTATATAATATATAATATA ATATAATATATTATATTATATAATATTATATAATATATAATATTATATTA TATTATATATTATATATTATATTATATAATATATAATATTATATATATTA TAACATAATATATAATATAAATATATATTATAGCATATAATATATAATAC AAATATATATTATAGCATATAATAT	MLIP	ENSG00000146147.15	transcript	ENST00000502396.6	protein_coding	12/13			chr6	TogoVar
MLIP_chr6_54106443_54271280	54251553	A A	ATTATATA others(394): Show ATTATATATTTATATATTTATATATATAATATATATTATATAATATATAT AATATAATATATAATATATATTATATTATATTATATTATATATTATATTA TATAATATATAATATTATATATTATATATTATATTATATAATATATAATA TTATATATTATATTATATAATATATAATATTATATATTATATTATATAAT ATATAATATTATATATTATATAATATAATATATAATATATAATATTATAT ATTATATAATATAATATATTATATAATATATATTATATTATATAATATAT GATATTATATATATTATATTATATATTATATTATATAATATATAATATTA TATATATTATAACATAATATATAATATAAATATATATTATAGCATATAAT AT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0016 a0016	a0016c0015 a0016c0015	a0016c0015t0003 a0016c0015t0003	a0016c0015t0003g0025 a0016c0015t0003g0026 a0016c0015t0003g0025 a0016c0015t0003g0026	2	248	0.0081	401	c.292 others(420): Show c.2923-5755_2923-5754insTTATATATTTATATATTTATATATAT AATATATATTATATAATATATATAATATAATATATAATATATATTATATT ATATTATATTATATATTATATTATATAATATATAATATTATATATTATAT ATTATATTATATAATATATAATATTATATATTATATTATATAATATATAA TATTATATATTATATTATATAATATATAATATTATATATTATATAATATA ATATATAATATATAATATTATATATTATATAATATAATATATTATATAAT ATATATTATATTATATAATATATGATATTATATATATTATATTATATATT ATATTATATAATATATAATATTATATATATTATAACATAATATATAATAT AAATATATATTATAGCATATAATAT	MLIP	ENSG00000146147.15	transcript	ENST00000502396.6	protein_coding	12/13			chr6	TogoVar
MPG_chr16_73225_90846	81914	G G	GCTGACCC others(394): Show GCTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAATGC TCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCAGGAAGCCCTCC TGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAA GCCCTCCTGAATGCTCCCCACACTGACCCCTTCTTCCCACCACCCTACCT CCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCAC CCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTC CCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCCGGCGCTGAC CCCTTCTTCCCACCACCCTACCTCCAGGAAGCCCTCCTGAATGCTCCCCA CA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	442	0.0023	401	c.301 others(418): Show c.301-1113_301-1112insTCTCCGGGAAGGCCTCCTGAATGCTCCC CGCGCTGACCCCTTCTTCCCACCACCCTACCTCCAGGAAGCCCTCCTGAA TGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGCCC TCCTGAATGCTCCCCACACTGACCCCTTCTTCCCACCACCCTACCTCCGG GAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTA CCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCAC CACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCCGGCGCTGACCCCT TCTTCCCACCACCCTACCTCCAGGAAGCCCTCCTGAATGCTCCCCACACT GACCCCTTCTTCCCACCACCCTA	MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
MRPL21_chr11_68886278_68908832	68892196	T T	TGGGGTCA others(394): Show TGGGGTCACGCGCGGAGGGTGGAGGAGAAGGGGAGCGAGGTGGGGTCACG CGCGGAGGGTGGAGGAGAAGGGGAGCGAGGTGGGGTCACGCGCGGAGGGT GGAGGAGAAGTGGAGCGAGGTGGGGTCACGCGCGGAGGGTGGAGGAGAAG TGGAGCGAGGTGGGGTCACGCGCGGAGGGTGGAGGAGAAGGGGAGCGAGG TGGGGTCACGCGCGGAGGGTGGAGGAGAAGGGGAGCGAGGTGGGGTCACG CGCGGAGGGTGGAGGAGAAGGGGAGCGAGGTGGGGTCACGCGCGGAGGGT GGAGGAGAAGGGGAGCGAGGTGGGGTCACGCGCGGAGGGTGGAGGAGAAG GGGAGCGAGGTGGGGTCACGCGCGGAGGGTGGAGGAGAAGGGGAGCGAGG TG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02015.hp2 HG02293.hp2 others(8): Show HG00673.hp2 HG02015.hp2 HG02293.hp2 NA18944.hp1 NA18962.hp2 NA18989.hp1 NA18990.hp1 NA19005.hp2 NA19058.hp2 NA19081.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	11	395	0.0279	401	c.553 others(416): Show c.553+693_553+694insCACCTCGCTCCCCTTCTCCTCCACCCTCCG CGCGTGACCCCACCTCGCTCCCCTTCTCCTCCACCCTCCGCGCGTGACCC CACCTCGCTCCCCTTCTCCTCCACCCTCCGCGCGTGACCCCACCTCGCTC CCCTTCTCCTCCACCCTCCGCGCGTGACCCCACCTCGCTCCCCTTCTCCT CCACCCTCCGCGCGTGACCCCACCTCGCTCCCCTTCTCCTCCACCCTCCG CGCGTGACCCCACCTCGCTCCACTTCTCCTCCACCCTCCGCGCGTGACCC CACCTCGCTCCACTTCTCCTCCACCCTCCGCGCGTGACCCCACCTCGCTC CCCTTCTCCTCCACCCTCCGCGCGTGACCCCACCTCGCTCCCCTTCTCCT CCACCCTCCGCGCGTGACCCC	MRPL21	ENSG00000197345.13	transcript	ENST00000362034.7	protein_coding	6/6			chr11	TogoVar
MYL2_chr12_110905845_110925579	110905917	A A	ATATATAA others(394): Show ATATATAATATATATTATATATAATATATATTATATTATATATAATATAT ATTATATAAAATATATATTATATTATATATAATATATATTATATAAAATA TATATTATATTATATATAATATATATTATATAAAATATATATTATATTAT ATATAATATATATTATATAAAATATATATTATATTATATATAATATATAT TATATAAAATATATATTATATTATATAATATATATTATATAAAATATATA TTATATTATATATAATATATATTTTATAAAATATATATTATATTATATAA TATATATTTTATAAAATATATATTATATTATATATAATATATATTATATA AAATATATATTATATTATATATAATATATATTATATAAAATATATATTAT AT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	368	0.0027	401	c.51 others(412): Show c.5159_*5160insATATAATATATATTTTATATAATATATATTATAT ATAATATAATATATATTTTATATAATATATATTATATATAATATAATATA TATTTTATAAAATATATATTATATAATATAATATATATTTTATAAAATAT ATATTATATATAATATAATATATATTTTATATAATATATATTATATAATA TAATATATATTTTATATAATATATATTATATATAATATAATATATATTTT ATATAATATATATTATATATAATATAATATATATTTTATATAATATATAT TATATATAATATAATATATATTTTATATAATATATATTATATATAATATA ATATATATTTTATATAATATATATTATATATAATATAATATATATTATAT ATAATATATATTATATA	MYL2	ENSG00000111245.17	transcript	ENST00000228841.15	protein_coding		4927		chr12	TogoVar
MYL2_chr12_110905845_110925579	110905917	A A	ATATATAA others(394): Show ATATATAATATATATTATATATAATATATATTATATTATATATAATATAT ATTATATAAAATATATATTATATTATATATAATATATATTATATAAAATA TATATTATATTATATATAATATATATTATATAAAATATATATTATATTAT ATATAATATATATTATATAAAATATATATTATATTATATATAATATATAT TATATAAAATATATATTATATTATATATAATATATATTATATAAAATATA TATTATATTATATAATATATATTATATAAAATATATATTATATTATATAT AATATATATTTTATAAAATATATATTATATTATATAATATATATTTTATA AAATATATATTATATTATATATAATATATATTATATAAAATATATATTAT AT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG03490.hp2 HG03492.hp2 others(3): Show HG00408.hp2 HG03490.hp2 HG03492.hp2 NA18962.hp1 NA19083.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0054 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0054	6	368	0.0163	401	c.51 others(412): Show c.5159_*5160insATATAATATATATTTTATATAATATATATTATAT ATAATATAATATATATTTTATAAAATATATATTATATAATATAATATATA TTTTATAAAATATATATTATATATAATATAATATATATTTTATATAATAT ATATTATATAATATAATATATATTTTATATAATATATATTATATATAATA TAATATATATTTTATATAATATATATTATATATAATATAATATATATTTT ATATAATATATATTATATATAATATAATATATATTTTATATAATATATAT TATATATAATATAATATATATTTTATATAATATATATTATATATAATATA ATATATATTTTATATAATATATATTATATATAATATAATATATATTATAT ATAATATATATTATATA	MYL2	ENSG00000111245.17	transcript	ENST00000228841.15	protein_coding		4927		chr12	TogoVar
MYL2_chr12_110905845_110925579	110905917	A A	ATATATAA others(394): Show ATATATAATATATATTATATATAATATATATTATATTATATATAATATAT ATTATATAAAATATATATTATATTATATATAATATATATTATATAAAATA TATATTATATTATATATAATATATATTATATAAAATATATATTATATTAT ATATAATATATATTATATAAAATATATATTATATTATATATAATATATAT TATATAAAATATATATTATATTATATATAATATATATTATATAAAATATA TATTATATTATATATAATATATATTATATATAATATATATTATATTATAT AATATATATTTTATAAAATATATATTATATTATATAATATATATTTTATA AAATATATATTATATTATATATAATATATATTATATAAAATATATATTAT AT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	368	0.0027	401	c.51 others(412): Show c.5159_*5160insATATAATATATATTTTATATAATATATATTATAT ATAATATAATATATATTTTATAAAATATATATTATATAATATAATATATA TTTTATAAAATATATATTATATAATATAATATATATTATATATAATATAT ATTATATATAATATAATATATATTTTATATAATATATATTATATATAATA TAATATATATTTTATATAATATATATTATATATAATATAATATATATTTT ATATAATATATATTATATATAATATAATATATATTTTATATAATATATAT TATATATAATATAATATATATTTTATATAATATATATTATATATAATATA ATATATATTTTATATAATATATATTATATATAATATAATATATATTATAT ATAATATATATTATATA	MYL2	ENSG00000111245.17	transcript	ENST00000228841.15	protein_coding		4927		chr12	TogoVar

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Search Results (Total: 10000 hits)