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
SYDE2_chr1_85151889_85206016	85154441	C C	CTCTGCCG others(507): Show CTCTGCCGCCCGGGTTCACGCCATTCTCCTGCCTCAGTCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCATCACACCTGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTCCAGACAGTTATTATGTGGGACTTTAAATATATATGA AGTCTTGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTAGGGGG GCCAAGGCTGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAA CACAGTGAAACCCCCGTCTCTACTAAAAAACAAAAAACCAAACAAACAAA GAAACAAAAAAAAAACACAAAAAATGAGCCTGGCATGGTGGCAGGCGCCT GTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGCGAATGGCGTGAACCCGG GAGGCGGAGCTTGCAGGAGCCGGGATCGCGCCACTGCACTCCAGCCTGGG CGACAGAGCAAGGCTCTGTCTCAAAAAAAAAAAAAAAAAAAATAAATCAA AAGATATAGATGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG01106.hp2 HG00733.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0143 a0001c0001t0001g0059 a0001c0001t0001g0143	2	398	0.0050	514	c.43 others(525): Show c.4308_*4309insCTTCATCTATATCTTTTGATTTATTTTTTTTTTT TTTTTTTTTGAGACAGAGCCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTG GCGCGATCCCGGCTCCTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCGC CTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCATGCC AGGCTCATTTTTTGTGTTTTTTTTTTGTTTCTTTGTTTGTTTGGTTTTTT GTTTTTTAGTAGAGACGGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCGTGATCTGCCAGCCTTGGCCCCCCTAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCAGCAAGACTTCATATATATTTAAAGTCC CACATAATAACTGTCTGGACCCCGTCTCTACTAAAAATACAAAAAATTAG CCAGGTGTGATGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGACTGAGG CAGGAGAATGGCGTGAACCCGGGCGGCAGA	SYDE2	ENSG00000097096.10	transcript	ENST00000341460.6	protein_coding		2447		chr1	TogoVar
SYDE2_chr1_85151889_85206016	85154441	C C	CTCTGCCG others(507): Show CTCTGCCGCCCGGGTTCACGCCATTCTCCTGCCTCAGTCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCATCACACCTGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTCCAGACAGTTATTATGTGGGACTTTAAATATATATGA AGTCTTGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTAGGGGG GCCAAGGCTGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAA CACAGTGAAACCCCCGTCTCTACTAAAAAACAAAAAACCAAACAAACAAA GAAACAAAAAAAAAACACAAAAAATGAGCCTGGCATGGTGGCAGGCGCCT GTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGCGAATGGCGTGAACCCGG GAGGCGGAGCTTGCAGGAGCCGGGATCGCGCCACTGCACTCCAGCCTGGG CGACAGAGCAAGGCTCTGTCTCAAAAAAAAAAAAAAAAATAATAAATCAA AAGATATAGATGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(175): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00423.hp1 HG00438.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00738.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01167.hp2 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01358.hp2 HG01433.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp2 HG02015.hp1 HG02040.hp1 HG02056.hp1 HG02080.hp1 HG02083.hp2 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02258.hp2 HG02273.hp2 HG02451.hp2 HG02523.hp1 HG02559.hp2 HG02615.hp1 HG02630.hp2 HG02683.hp1 HG02717.hp2 HG02735.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02922.hp2 HG02976.hp1 HG03017.hp1 HG03130.hp2 HG03195.hp1 HG03225.hp2 HG03239.hp2 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18612.hp2 NA18747.hp1 NA18939.hp2 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp2 NA18974.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp2 NA19006.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19079.hp1 NA19083.hp2 NA19087.hp2 NA19088.hp1 NA19090.hp2 NA20129.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 others(6): Show a0001 a0002 a0006 a0012 a0013 a0014 a0016 a0023 a0025	a0001c0001 a0001c0017 a0001c0031 others(10): Show a0001c0001 a0001c0017 a0001c0031 a0002c0002 a0002c0009 a0002c0012 a0006c0006 a0012c0014 a0013c0023 a0014c0021 a0016c0016 a0023c0025 a0025c0028	a0001c0001t0001 a0001c0001t0015 a0001c0017t0001 others(15): Show a0001c0001t0001 a0001c0001t0015 a0001c0017t0001 a0001c0031t0001 a0002c0002t0001 a0002c0002t0010 a0002c0002t0012 a0002c0002t0016 a0002c0009t0001 a0002c0009t0017 a0002c0012t0001 a0006c0006t0001 a0012c0014t0001 a0013c0023t0001 a0014c0021t0001 a0016c0016t0001 a0023c0025t0001 a0025c0028t0010	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0010 others(154): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0203 a0001c0001t0015g0061 a0001c0017t0001g0057 a0001c0031t0001g0062 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0036 a0002c0002t0001g0211 a0002c0002t0001g0222 a0002c0002t0001g0223 a0002c0002t0001g0224 a0002c0002t0001g0225 a0002c0002t0001g0226 a0002c0002t0001g0227 a0002c0002t0001g0228 a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0001g0234 a0002c0002t0001g0235 a0002c0002t0001g0236 a0002c0002t0001g0237 a0002c0002t0001g0238 a0002c0002t0001g0241 a0002c0002t0001g0242 a0002c0002t0001g0243 a0002c0002t0001g0244 a0002c0002t0001g0245 a0002c0002t0001g0246 a0002c0002t0001g0247 a0002c0002t0001g0248 a0002c0002t0001g0250 a0002c0002t0001g0251 a0002c0002t0001g0253 a0002c0002t0001g0255 a0002c0002t0001g0259 a0002c0002t0001g0260 a0002c0002t0001g0261 a0002c0002t0001g0272 a0002c0002t0001g0286 a0002c0002t0001g0296 a0002c0002t0001g0307 a0002c0002t0010g0264 a0002c0002t0012g0240 a0002c0002t0012g0252 a0002c0002t0016g0254 a0002c0009t0001g0276 a0002c0009t0001g0277 a0002c0009t0001g0278 a0002c0009t0001g0280 a0002c0009t0017g0275 a0002c0012t0001g0310 a0002c0012t0001g0311 a0002c0012t0001g0312 a0002c0012t0001g0313 a0006c0006t0001g0028 a0006c0006t0001g0213 a0006c0006t0001g0214 a0006c0006t0001g0215 a0006c0006t0001g0216 a0006c0006t0001g0217 a0006c0006t0001g0220 a0006c0006t0001g0221 a0012c0014t0001g0044 a0012c0014t0001g0335 a0013c0023t0001g0333 a0013c0023t0001g0334 a0014c0021t0001g0328 a0016c0016t0001g0014 a0023c0025t0001g0147 a0025c0028t0010g0076	178	398	0.4472	514	c.43 others(525): Show c.4308_*4309insCTTCATCTATATCTTTTGATTTATTATTTTTTTT TTTTTTTTTGAGACAGAGCCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTG GCGCGATCCCGGCTCCTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCGC CTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCATGCC AGGCTCATTTTTTGTGTTTTTTTTTTGTTTCTTTGTTTGTTTGGTTTTTT GTTTTTTAGTAGAGACGGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCGTGATCTGCCAGCCTTGGCCCCCCTAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCAGCAAGACTTCATATATATTTAAAGTCC CACATAATAACTGTCTGGACCCCGTCTCTACTAAAAATACAAAAAATTAG CCAGGTGTGATGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGACTGAGG CAGGAGAATGGCGTGAACCCGGGCGGCAGA	SYDE2	ENSG00000097096.10	transcript	ENST00000341460.6	protein_coding		2447		chr1	TogoVar
SYDE2_chr1_85151889_85206016	85154441	C C	CTCTGCCG others(507): Show CTCTGCCGCCCGGGTTCACGCCATTCTCCTGCCTCAGTCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCATCACACCTGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTCCAGACAGTTATTATGTGGGACTTTAAATATATATGA AGTCTTGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTAGGGGG GCCAAGGCTGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAA CACAGTGAAACCCCCGTCTCTACTAAAAAACAAAAAACCAAACAAACAAA GAAACAAAAAAAAAACACAAAAAATGAGCCTGGCATGGTGGCAGGCGCCT GTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGCGAATGGCGTGAACCCGG GAGGCGGAGCTTGCAGGAGCCGGGATCGCGCCACTGCACTCCAGCCTGGG CGACAGAGCAAGGCTCTGTCTCAAAAAAAAAAAAAATAATAATAAATCAA AAGATATAGATGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00438.hp2 others(48): Show HG00408.hp1 HG00408.hp2 HG00438.hp2 HG01099.hp1 HG01981.hp1 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02273.hp1 HG02647.hp2 HG02735.hp1 HG02970.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03540.hp2 HG03688.hp2 HG03710.hp1 HG04184.hp1 NA18522.hp1 NA18747.hp2 NA18940.hp2 NA18946.hp1 NA18948.hp2 NA18955.hp2 NA18960.hp1 NA18963.hp1 NA18965.hp2 NA18971.hp1 NA18975.hp1 NA18981.hp2 NA18991.hp1 NA18993.hp2 NA18998.hp1 NA19004.hp1 NA19007.hp2 NA19011.hp1 NA19065.hp2 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19083.hp1 NA19090.hp1 NA21309.hp1	a0001 a0002 a0006 others(4): Show a0001 a0002 a0006 a0018 a0021 a0022 a0029	a0001c0001 a0002c0002 a0002c0009 others(6): Show a0001c0001 a0002c0002 a0002c0009 a0002c0018 a0006c0006 a0018c0019 a0021c0036 a0022c0035 a0029c0024	a0001c0001t0001 a0002c0002t0001 a0002c0009t0001 others(6): Show a0001c0001t0001 a0002c0002t0001 a0002c0009t0001 a0002c0018t0001 a0006c0006t0001 a0018c0019t0001 a0021c0036t0001 a0022c0035t0001 a0029c0024t0001	a0001c0001t0001g0068 a0001c0001t0001g0084 a0001c0001t0001g0092 others(41): Show a0001c0001t0001g0068 a0001c0001t0001g0084 a0001c0001t0001g0092 a0001c0001t0001g0138 a0001c0001t0001g0153 a0001c0001t0001g0174 a0001c0001t0001g0188 a0001c0001t0001g0189 a0002c0002t0001g0004 a0002c0002t0001g0007 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0001g0249 a0002c0002t0001g0262 a0002c0002t0001g0274 a0002c0002t0001g0282 a0002c0002t0001g0283 a0002c0002t0001g0284 a0002c0002t0001g0285 a0002c0002t0001g0288 a0002c0002t0001g0289 a0002c0002t0001g0290 a0002c0002t0001g0292 a0002c0002t0001g0293 a0002c0002t0001g0294 a0002c0002t0001g0295 a0002c0002t0001g0297 a0002c0002t0001g0299 a0002c0002t0001g0300 a0002c0002t0001g0301 a0002c0002t0001g0302 a0002c0002t0001g0303 a0002c0002t0001g0304 a0002c0009t0001g0279 a0002c0018t0001g0287 a0002c0018t0001g0298 a0006c0006t0001g0218 a0018c0019t0001g0308 a0018c0019t0001g0309 a0021c0036t0001g0306 a0022c0035t0001g0291 a0029c0024t0001g0045	51	398	0.1281	514	c.43 others(525): Show c.4308_*4309insCTTCATCTATATCTTTTGATTTATTATTATTTTT TTTTTTTTTGAGACAGAGCCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTG GCGCGATCCCGGCTCCTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCGC CTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCATGCC AGGCTCATTTTTTGTGTTTTTTTTTTGTTTCTTTGTTTGTTTGGTTTTTT GTTTTTTAGTAGAGACGGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCGTGATCTGCCAGCCTTGGCCCCCCTAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCAGCAAGACTTCATATATATTTAAAGTCC CACATAATAACTGTCTGGACCCCGTCTCTACTAAAAATACAAAAAATTAG CCAGGTGTGATGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGACTGAGG CAGGAGAATGGCGTGAACCCGGGCGGCAGA	SYDE2	ENSG00000097096.10	transcript	ENST00000341460.6	protein_coding		2447		chr1	TogoVar
SYDE2_chr1_85151889_85206016	85154441	C C	CTCTGCCG others(507): Show CTCTGCCGCCCGGGTTCACGCCATTCTCCTGCCTCAGTCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCATCACACCTGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTCCAGACAGTTATTATGTGGGACTTTAAATATATATGA AGTCTTGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTAGGGGG GCCAAGGCTGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAA CACAGTGAAACCCCCGTCTCTACTAAAAAACAAAAAACCAAACAAACAAA GAAACAAAAAAAAAACACAAAAAATGAGCCTGGCATGGTGGCAGGCGCCT GTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGCGAATGGCGTGAACCCGG GAGGCGGAGCTTGCAGGAGCCGGGATCGCGCCACTGCACTCCAGCCTGGG CGACAGAGCAAGGCTCTGTCTCAAAAAAAAAAAAATAAATAATAAATCAA AAGATATAGATGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02622.hp1 HG02809.hp1 others(2): Show HG02055.hp2 HG02622.hp1 HG02809.hp1 HG02922.hp1 HG03195.hp2	a0011 a0011	a0011c0011 a0011c0011	a0011c0011t0001 a0011c0011t0001	a0011c0011t0001g0018 a0011c0011t0001g0154 a0011c0011t0001g0155 others(1): Show a0011c0011t0001g0018 a0011c0011t0001g0154 a0011c0011t0001g0155 a0011c0011t0001g0156	5	398	0.0126	514	c.43 others(525): Show c.4308_*4309insCTTCATCTATATCTTTTGATTTATTATTTATTTT TTTTTTTTTGAGACAGAGCCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTG GCGCGATCCCGGCTCCTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCGC CTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCATGCC AGGCTCATTTTTTGTGTTTTTTTTTTGTTTCTTTGTTTGTTTGGTTTTTT GTTTTTTAGTAGAGACGGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCGTGATCTGCCAGCCTTGGCCCCCCTAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCAGCAAGACTTCATATATATTTAAAGTCC CACATAATAACTGTCTGGACCCCGTCTCTACTAAAAATACAAAAAATTAG CCAGGTGTGATGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGACTGAGG CAGGAGAATGGCGTGAACCCGGGCGGCAGA	SYDE2	ENSG00000097096.10	transcript	ENST00000341460.6	protein_coding		2447		chr1	TogoVar
SYDE2_chr1_85151889_85206016	85154441	C C	CTCTGCCG others(507): Show CTCTGCCGCCCGGGTTCACGCCATTCTCCTGCCTCAGTCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCATCACACCTGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTCCAGACAGTTATTATGTGGGACTTTAAATATATATGA AGTCTTGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTAGGGGG GCCAAGGCTGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAA CACAGTGAAACCCCCGTCTCTACTAAAAAACAAAAAACCAAACAAACAAA GAAACAAAAAAAAAACCACAAAAAATGAGCCTGGCATGGTGGCAGGCGCC TGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGCGAATGGCGTGAACCCG GGAGGCGGAGCTTGCAGGAGCCGGGATCGCGCCACTGCACTCCAGCCTGG GCGACAGAGCAAGGCTCTGTCTCAAAAAAAAAAAAATAATAATAAATCAA AAGATATAGATGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00642.hp1 HG01081.hp2 others(28): Show HG00558.hp1 HG00642.hp1 HG01081.hp2 HG01168.hp1 HG01169.hp2 HG01255.hp1 HG01433.hp1 HG01515.hp1 HG01981.hp2 HG02056.hp2 HG02132.hp1 HG02155.hp2 HG03669.hp1 NA18939.hp1 NA18941.hp1 NA18949.hp1 NA18951.hp2 NA18956.hp2 NA18968.hp1 NA18974.hp2 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18987.hp2 NA19056.hp2 NA19060.hp1 NA19064.hp2 NA19075.hp1 NA19079.hp2 NA19088.hp2 NA21309.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0009 a0003c0003t0013 a0003c0003t0002 a0003c0003t0009 a0003c0003t0013	a0003c0003t0002g0003 a0003c0003t0002g0023 a0003c0003t0002g0024 others(19): Show a0003c0003t0002g0003 a0003c0003t0002g0023 a0003c0003t0002g0024 a0003c0003t0002g0026 a0003c0003t0002g0027 a0003c0003t0002g0134 a0003c0003t0002g0135 a0003c0003t0002g0158 a0003c0003t0002g0195 a0003c0003t0002g0196 a0003c0003t0002g0198 a0003c0003t0002g0199 a0003c0003t0002g0200 a0003c0003t0002g0201 a0003c0003t0002g0202 a0003c0003t0002g0204 a0003c0003t0002g0205 a0003c0003t0002g0206 a0003c0003t0002g0208 a0003c0003t0002g0209 a0003c0003t0009g0025 a0003c0003t0013g0207	31	398	0.0779	514	c.43 others(525): Show c.4308_*4309insCTTCATCTATATCTTTTGATTTATTATTATTTTT TTTTTTTTGAGACAGAGCCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGG CGCGATCCCGGCTCCTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCGCC TGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCATGCCA GGCTCATTTTTTGTGGTTTTTTTTTTGTTTCTTTGTTTGTTTGGTTTTTT GTTTTTTAGTAGAGACGGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCGTGATCTGCCAGCCTTGGCCCCCCTAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCAGCAAGACTTCATATATATTTAAAGTCC CACATAATAACTGTCTGGACCCCGTCTCTACTAAAAATACAAAAAATTAG CCAGGTGTGATGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGACTGAGG CAGGAGAATGGCGTGAACCCGGGCGGCAGA	SYDE2	ENSG00000097096.10	transcript	ENST00000341460.6	protein_coding		2447		chr1	TogoVar
TBC1D22A_chr22_46757650_47180693	46859481	C C	CATAGAGG others(507): Show CATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAATCCTTTT TTGATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAATCCTT TTCCATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGAATCCT TTTCCATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGAATCC TTTTCGATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCTGGGACCAGAATC CTTTGTTGATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAA TCCTTTTCCATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGA ATCCTTTTTTGATAGAGGTCCGCACAGTGCCGTGCCCCTTCCCGGGACCA GAATCCTTTTCCATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACC AGAATCCTTTTCCATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGAC CAGAATCCTTTTTTG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0021 a0005c0006t0021	a0005c0006t0021g0019 a0005c0006t0021g0019	1	112	0.0089	514	c.638 others(533): Show c.638-19153_638-19152insCGTGCCCCTTCCCGGGACCAGAATCC TTTTTTGATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAAT CCTTTTCCATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGAA TCCTTTTCCATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGA ATCCTTTTCGATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCTGGGACCAG AATCCTTTGTTGATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACC AGAATCCTTTTCCATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGAC CAGAATCCTTTTTTGATAGAGGTCCGCACAGTGCCGTGCCCCTTCCCGGG ACCAGAATCCTTTTCCATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGG GACCAGAATCCTTTTCCATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCG GGACCAGAATCCTTTTTTGATAGAGGTCCGCGCAGTGC	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TCF3_chr19_1604292_1657615	1628465	A A	ATGAGGCG others(507): Show ATGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGG GACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACG GGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAG GGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTC ACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCAGG AAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAG CTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGG CGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAG AGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGA GGCGGGAAGGGGACAGCAGAGCTCACGGGGATGAGGCGGGAAGGGGACAG CAGAGCTCACGGGGG	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0276 a0001c0003t0002g0276	1	352	0.0028	514	c.299 others(531): Show c.299-1040_299-1039insCCCCCGTGAGCTCTGCTGTCCCCTTCCC GCCTCATCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAG CTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTT CCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCGTG AGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCC TTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCTGCCCCACCCC CGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTC CCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCAC CCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCT GTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTC ACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCA	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TMEM163_chr2_134450759_134724000	134608234	A A	AAGGACAG others(507): Show AAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGAGGACAGACCCCGAG AACTGTGCTGGTGAAAAGGAGGACAGACCCCGAGAACTGTGCTGGTGAAA AGGACAGACCCCGAGAACTGTACTGGTGAAAAGGAGGACAGACCCCGAGA ACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGA GGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTG TGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGA CCCCGAGAACTGTACTGGTGAAAAGGAGGACAGACCCCGAGAACTGTGCT GGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCC GAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAA AGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGAGGACAGACCCCGAGA ACTTTGCTGGTGAAA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01361.hp1 HG03492.hp1 others(2): Show HG01099.hp1 HG01361.hp1 HG03492.hp1 HG03669.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007	a0001c0001t0001g0041 a0001c0001t0002g0063 a0001c0001t0006g0050 others(2): Show a0001c0001t0001g0041 a0001c0001t0002g0063 a0001c0001t0006g0050 a0001c0001t0006g0062 a0001c0001t0007g0064	5	222	0.0225	514	c.323 others(533): Show c.323-56144_323-56143insTTTCACCAGCAAAGTTCTCGGGGTCT GTCCTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCA CAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCC TTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCT CGGGGTCTGTCCTCCTTTTCACCAGTACAGTTCTCGGGGTCTGTCCTTTT CACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGG GTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTCCTTTTCACC AGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCT GTCCTCCTTTTCACCAGTACAGTTCTCGGGGTCTGTCCTTTTCACCAGCA CAGTTCTCGGGGTCTGTCCTCCTTTTCACCAGCACAGTTCTCGGGGTCTG TCCTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCT	TMEM163	ENSG00000152128.13	transcript	ENST00000281924.6	protein_coding	2/7			chr2	TogoVar
TMEM163_chr2_134450759_134724000	134608516	G G	GACAGACC others(507): Show GACAGACCCCGAGAACTGTACTGGTGAAAAGGATGACAGACCCCGAGAAC TGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGAGG ACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTG CTGGTGAAAAGGACAGACCCCGAGAATTGTGCTGGTGAAAAGGACAGACC CCGAGAACTGTGCTGGTGAAAAGGAGGACAGACCCCGAGAACTGTACTGG TGAAAAGGAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCC CGAGAACTGTACTGGTGAAAAGGAGGACAGACCCCAAGAACTGTACTGGT GAAAAGGAGGACAGACCCCAAGAACTGTACTGGTGAAAAGGACAGACCCC GAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTACTGGTGAAA AGGACAGACCCCGAGAACTGTACTGGTGAAAAGGAGGACAGACCCCGAGA ACTGTACTGGTGAAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	222	0.0045	514	c.323 others(533): Show c.323-56426_323-56425insTTTCACCAGTACAGTTCTCGGGGTCT GTCCTCCTTTTCACCAGTACAGTTCTCGGGGTCTGTCCTTTTCACCAGTA CAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCC TTTTCACCAGTACAGTTCTTGGGGTCTGTCCTCCTTTTCACCAGTACAGT TCTTGGGGTCTGTCCTCCTTTTCACCAGTACAGTTCTCGGGGTCTGTCCT TTTCACCAGCACAGTTCTCGGGGTCTGTCCTCCTTTTCACCAGTACAGTT CTCGGGGTCTGTCCTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTT TTCACCAGCACAATTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCG GGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTCCTTTTCA CCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGT CTGTCATCCTTTTCACCAGTACAGTTCTCGGGGTCTGT	TMEM163	ENSG00000152128.13	transcript	ENST00000281924.6	protein_coding	2/7			chr2	TogoVar
TMEM163_chr2_134450759_134724000	134608996	A A	AAGGACAG others(507): Show AAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAAC TGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACA GACCCCGAGAACTGTGCTGGTGAAAAGGAGGACAGACCCCGAGAACTGTG CTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACC CCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGA AAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGAGGACAGACCCCGA GAACTGTGCTGGTGAAAAGGAGGACAGACCCCGAGAACTGTGCTGGTGAA AAGGACAGACCCCGAGAACTGTACTGGTGAAAAGGAGGACAGACCCCTAG AACTGTACTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGG ACAGACCCCGAGAACTGTGCTGGTGAAAAGGAGGACAGACCCCGAGAACT GTGCTGGTGAAAAGG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03516.hp2 HG02257.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0149 a0001c0001t0001g0151	2	222	0.0090	514	c.323 others(533): Show c.323-56906_323-56905insCCTTTTCACCAGCACAGTTCTCGGGG TCTGTCCTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCA GCACAGTTCTCGGGGTCTGTCCTTTTCACCAGTACAGTTCTAGGGGTCTG TCCTCCTTTTCACCAGTACAGTTCTCGGGGTCTGTCCTTTTCACCAGCAC AGTTCTCGGGGTCTGTCCTCCTTTTCACCAGCACAGTTCTCGGGGTCTGT CCTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACA GTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTT TTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCG GGGTCTGTCCTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCA CCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGT CTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCT	TMEM163	ENSG00000152128.13	transcript	ENST00000281924.6	protein_coding	2/7			chr2	TogoVar
TMPRSS9_chr19_2355265_2431261	2419018	C C	CCCTTCCC others(507): Show CCCTTCCCTCCCTCCCTTTCATTCCCTCCCTCCCTTTCCTCCCCTTCCCT CCCTCCCTTTCCTTCCCTCCATCCCTTCCCTTCCCTTCCCTCCCTCCCTC TCCTTCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTCCCTTTCCTTTCCTT CCCTCCCTCCCTTTCCTTCCCTCCCTCCCTTTCCTTTCCTTCCCTCCCTC CCTTTCCTTCCCTCCCTCCCTTTCCTTTCCTCCCTCCCTCCCTTTCCTTC CCTCTCCTCCCTCTCCTTCCCTCTCCTCCCTCTCCTTCCCTCTCCTCCCT CCCTTTCCTTCCCTTCCCTCCCTCCCTTTCCTTCCCTTCCCTCCCTCTGT TTCCTTTCCTCTCTCCCTTTCCTTCCCTCCCTCCCTCTCCTTCCCTTCCC TCCCGCCCTCTCCTTCCCTTCCCTCCCGCCCTCTCCTTCCCTTCCCTCCC GCCCTCTCCTTCCCTTCCCTCCCGCCCTCTCCTTCCCTTCCCTCCCACCG TCTCCTTCCCTCCCT	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0058 a0003c0003t0003g0058	1	114	0.0088	514	c.215 others(531): Show c.2154+882_2154+883insTTCCCTCCCTCCCTTTCATTCCCTCCCT CCCTTTCCTCCCCTTCCCTCCCTCCCTTTCCTTCCCTCCATCCCTTCCCT TCCCTTCCCTCCCTCCCTCTCCTTCCTTCCCTCCCTCCCTTTCCTTCCCT CCCTCCCTTTCCTTTCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTCCCTT TCCTTTCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTCCCTTTCCTTTCCT CCCTCCCTCCCTTTCCTTCCCTCTCCTCCCTCTCCTTCCCTCTCCTCCCT CTCCTTCCCTCTCCTCCCTCCCTTTCCTTCCCTTCCCTCCCTCCCTTTCC TTCCCTTCCCTCCCTCTGTTTCCTTTCCTCTCTCCCTTTCCTTCCCTCCC TCCCTCTCCTTCCCTTCCCTCCCGCCCTCTCCTTCCCTTCCCTCCCGCCC TCTCCTTCCCTTCCCTCCCGCCCTCTCCTTCCCTTCCCTCCCGCCCTCTC CTTCCCTTCCCTCCCACCGTCTCCTTCCCTCCCTCC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TOLLIP_chr11_1269371_1314632	1294201	T T	TGTGGCTC others(507): Show TGTGGCTCACAGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGT GGCTCACAGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGC TCACAGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCA CAGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCACAG TGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCACAGTGT GTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCACAGTGTGTC TCCTTTCCCTGCATTTCTACGAAAGCCCGCATGGCTCAGTGTGTCTCCTT TCCCTGCATTTCTACGAAAGCCGCGTGGCTCACAGTGTGTCTCCTTTCCC TGCATTTCTACGAAAGCCTGCGTGGCTCACAGTGTGTCTCCTTTCCCTGC ATTTCTACGAAAGCCCGCGTGGCTCACAGTGTGTCTCCTTTCCCTGCATT TCTACGAAAGCCCGC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0314 a0001c0001t0004g0314	1	348	0.0029	514	c.183 others(531): Show c.183+1443_183+1444insGCGGGCTTTCGTAGAAATGCAGGGAAAG GAGACACACTGTGAGCCACGCGGGCTTTCGTAGAAATGCAGGGAAAGGAG ACACACTGTGAGCCACGCAGGCTTTCGTAGAAATGCAGGGAAAGGAGACA CACTGTGAGCCACGCGGCTTTCGTAGAAATGCAGGGAAAGGAGACACACT GAGCCATGCGGGCTTTCGTAGAAATGCAGGGAAAGGAGACACACTGTGAG CCACGCGGGCTTTCGTAGAAATGCAGGGAAAGGAGACACACTGTGAGCCA CGCGGGCTTTCGTAGAAATGCAGGGAAAGGAGACACACTGTGAGCCACGC GGGCTTTCGTAGAAATGCAGGGAAAGGAGACACACTGTGAGCCACGCGGG CTTTCGTAGAAATGCAGGGAAAGGAGACACACTGTGAGCCACGCGGGCTT TCGTAGAAATGCAGGGAAAGGAGACACACTGTGAGCCACGCGGGCTTTCG TAGAAATGCAGGGAAAGGAGACACACTGTGAGCCAC	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	2/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1294715	C C	CGTGGCTC others(507): Show CGTGGCTCACGGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGT GGCTCACGGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGC TCAGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCGCGTGGCTCACAG TGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCACGGTGT GTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCACGGTGTGTC TCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCACGGTGTGTCTCC TTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCACGGTGTGTCTCCTTT CCCTGCATTTCTACGAAAGCCCGCGTGGCTCACGGTGTGTCTCCTTTTCC TGCATTTCTACGAAAGCCCGCGTGGCTCACGGTGTGTCTCCTTTTCCTGC ATTTCTACGAAAGCCCGCGTGGCTCACGGTGTGTCTCCTTTCCCTGCATT TCTACGAAAGCCCGG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	348	0.0029	514	c.183 others(529): Show c.183+929_183+930insCCGGGCTTTCGTAGAAATGCAGGGAAAGGA GACACACCGTGAGCCACGCGGGCTTTCGTAGAAATGCAGGAAAAGGAGAC ACACCGTGAGCCACGCGGGCTTTCGTAGAAATGCAGGAAAAGGAGACACA CCGTGAGCCACGCGGGCTTTCGTAGAAATGCAGGGAAAGGAGACACACCG TGAGCCACGCGGGCTTTCGTAGAAATGCAGGGAAAGGAGACACACCGTGA GCCACGCGGGCTTTCGTAGAAATGCAGGGAAAGGAGACACACCGTGAGCC ACGCGGGCTTTCGTAGAAATGCAGGGAAAGGAGACACACCGTGAGCCACG CGGGCTTTCGTAGAAATGCAGGGAAAGGAGACACACTGTGAGCCACGCGG CTTTCGTAGAAATGCAGGGAAAGGAGACACACTGAGCCACGCGGGCTTTC GTAGAAATGCAGGGAAAGGAGACACACCGTGAGCCACGCGGGCTTTCGTA GAAATGCAGGGAAAGGAGACACACCGTGAGCCAC	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	2/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1294762	C C	CGTGGCTC others(507): Show CGTGGCTCACGGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGT GGCTCACGGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCATGGC TCAGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCGCGTGGCTCACAG TGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCACGGTGT GTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCACGGTGTGTC TCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCACGGTGTGTCTCC TTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCACGGTGTGTCTCCTTT CCCTGCATTTCTACGAAAGCCCGCGTGGCTCACGGTGTGTCTCCTTTTCC TGCATTTCTACGAAAGCCCGCGTGGCTCACGGTGTGTCTCCTTTTCCTGC ATTTCTACGAAAGCCCGCGTGGCTCACGGTGTGTCTCCTTTTCCTGCATT TCTACGAAAGCCCGG	intron_variant intron_variant	MODIFIER	NA18945.hp1 homoSapiens_chm13v2.hp1 NA18945.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0027 a0001c0001t0010 a0001c0001t0027	a0001c0001t0010g0229 a0001c0001t0027g0084 a0001c0001t0010g0229 a0001c0001t0027g0084	2	348	0.0058	514	c.183 others(529): Show c.183+882_183+883insCCGGGCTTTCGTAGAAATGCAGGAAAAGGA GACACACCGTGAGCCACGCGGGCTTTCGTAGAAATGCAGGAAAAGGAGAC ACACCGTGAGCCACGCGGGCTTTCGTAGAAATGCAGGAAAAGGAGACACA CCGTGAGCCACGCGGGCTTTCGTAGAAATGCAGGGAAAGGAGACACACCG TGAGCCACGCGGGCTTTCGTAGAAATGCAGGGAAAGGAGACACACCGTGA GCCACGCGGGCTTTCGTAGAAATGCAGGGAAAGGAGACACACCGTGAGCC ACGCGGGCTTTCGTAGAAATGCAGGGAAAGGAGACACACCGTGAGCCACG CGGGCTTTCGTAGAAATGCAGGGAAAGGAGACACACTGTGAGCCACGCGG CTTTCGTAGAAATGCAGGGAAAGGAGACACACTGAGCCATGCGGGCTTTC GTAGAAATGCAGGGAAAGGAGACACACCGTGAGCCACGCGGGCTTTCGTA GAAATGCAGGGAAAGGAGACACACCGTGAGCCAC	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	2/5			chr11	TogoVar
TP53AIP1_chr11_128930370_128947871	128930588	C C	CCAGGGTT others(507): Show CCAGGGTTAGGGAGGCCTAGGGTTAGGGAGGCTGGGGTTAGGGAGCCCGG GGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTA GGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGA GGCCGGGGTCAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTG GGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTT AGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGA GGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGG GGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGGTTAGGGAGACCAAGGG TTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAG GGAGGCCAGGGTTAAGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGG CTGGGGTTAGGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0012 a0005c0005t0012	a0005c0005t0012g0039 a0005c0005t0012g0039	1	466	0.0022	514	c.50 others(525): Show c.5002_*5003insCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTC CCTAACCCCGGCCTCCTTAACCCTGGCCTCCCTAACCCCTGGCCTCCCTA ACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCTTGGTCTCCCTAACCC CCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTACCCTGGC CTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCC TAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACC CCAGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGC CTCCCTAACCCCAGCCTCCCTGACCCCGGCCTCCCTAACCCCTGGCCTCC CTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAAC CCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGGCTCCCTAACCCCAG CCTCCCTAACCCTAGGCCTCCCTAACCCTG	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4781		chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273308	T T	TTATATAT others(507): Show TTATATATAAAAATTATATATATATTATATATATAAAAATTATATATATA TTATATATATAAAAATTATATATATATTATATATATAAAAATTATATATA TATTATATATATAAAAATTATATATATATTATATATATAAAAATTATATA TATATTATATATATAAAAATTATATATATATTATATATATATAAAAATTA TATATATATTATATATATATAAAAATTATATATATATTATATATATATAA AAATTATATATATATTATATATATATAAAAATTATATATATATTATATAT ATATAAAAATTATATATATATTATATATATATAAAAATTATATATATATT ATATATATATAAAAATTATATATATATTATATATATATAAAAATTATATA TTATATATATATAAAAATTATATATATATTATATATATATAAAAATTATA TATATATTATATATATATAAAAATTATATATATATTATATATATATAAAA ATTATATATATATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp2 HG01261.hp2 HG01258.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	272	0.0074	514	c.28 others(525): Show c.2873_*2874insTATATATAAAAATTATATATATATTATATATATA AAAATTATATATATATTATATATATAAAAATTATATATATATTATATATA TAAAAATTATATATATATTATATATATAAAAATTATATATATATTATATA TATAAAAATTATATATATATTATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAT ATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTAT ATATATATTATATATATATAAAAATTATATATATATTATATATATATAAA AATTATATATATATTATATATATATAAAAATTATATATATATTATATATA TATAAAAATTATATATTATATATATATAAAAATTATATATATATTATATA TATATAAAAATTATATATATATTATATATATATAAAAATTATATATATAT TATATATATATAAAAATTATATATATATTA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2195		chr11	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(507): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCC TTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTT CCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCC TCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCC CTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTT CTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCC CCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTAT CCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTTA CCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCC TCCTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00544.hp2 HG00597.hp2 others(32): Show HG00280.hp1 HG00544.hp2 HG00597.hp2 HG00621.hp1 HG00642.hp1 HG01106.hp2 HG01123.hp2 HG01169.hp2 HG01175.hp1 HG01256.hp2 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01981.hp2 HG02258.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02602.hp1 HG02735.hp2 HG03239.hp2 HG03688.hp1 HG03834.hp2 HG04115.hp1 NA18943.hp2 NA18956.hp2 NA18982.hp2 NA18983.hp2 NA19012.hp1 NA19081.hp2 NA19088.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0010 a0018	a0001c0002 a0002c0003 a0002c0010 others(3): Show a0001c0002 a0002c0003 a0002c0010 a0005c0006 a0010c0011 a0018c0021	a0001c0002t0002 a0002c0003t0002 a0002c0010t0002 others(3): Show a0001c0002t0002 a0002c0003t0002 a0002c0010t0002 a0005c0006t0002 a0010c0011t0002 a0018c0021t0002	a0001c0002t0002g0023 a0001c0002t0002g0068 a0002c0003t0002g0001 others(15): Show a0001c0002t0002g0023 a0001c0002t0002g0068 a0002c0003t0002g0001 a0002c0003t0002g0006 a0002c0003t0002g0014 a0002c0003t0002g0015 a0002c0003t0002g0062 a0002c0003t0002g0063 a0002c0003t0002g0064 a0002c0003t0002g0066 a0002c0003t0002g0067 a0002c0003t0002g0087 a0002c0010t0002g0001 a0005c0006t0002g0001 a0005c0006t0002g0039 a0010c0011t0002g0014 a0010c0011t0002g0065 a0018c0021t0002g0023	35	334	0.1048	514	c.657 others(529): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCC CTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTT CCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCC GTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTC CCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCC CCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTC CCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCC CCCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTC CACCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTC TTCCCCCTTCCTCCCTCCTCCTTTCCTTTCTCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(507): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCC TTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTT CCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCC TCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCC CTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTT CTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCC CCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTAT CCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTA CCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCC TCCTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0040 a0002c0003t0002g0040	1	334	0.0030	514	c.657 others(529): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCC CTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTT CCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCC GTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTC CCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCC CCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTC CCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCC CCCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTC CTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTC TTCCCCCTTCCTCCCTCCTCCTTTCCTTTCTCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(507): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCC TTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTT CCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCC TCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCC CTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCTC CCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTC CCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTAT CCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTTA CCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCC TCCTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0250 a0001c0002t0001g0250	1	334	0.0030	514	c.657 others(529): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCC CTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTT CCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCC GTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTC CCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCC CCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCC TCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCC CCCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTC CACCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTC TTCCCCCTTCCTCCCTCCTCCTTTCCTTTCTCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(507): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCC TTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTT CCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCC TCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCTTCTTCC CTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCC TCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCC CCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTATC CCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTTAC CCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCC TCCTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0002 a0006c0008t0002	a0006c0008t0002g0071 a0006c0008t0002g0071	1	334	0.0030	514	c.657 others(529): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCC CTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTT CCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCC GTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTC CCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTC CCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTC CCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCC CCCTTTCTCCCTATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCC ACCCTTCCCCCTTACCCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTC TTCCCCCTTCCTCCCTCCTCCTTTCCTTTCTCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(507): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCC TTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTT CCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCC TCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCTTCTTCC CTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCC TCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCC CCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTAT CCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTTA CCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCC TCCTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02083.hp1 NA18612.hp2 others(2): Show HG00438.hp1 HG02083.hp1 NA18612.hp2 NA18979.hp1 NA19060.hp2	a0002 a0006 a0002 a0006	a0002c0003 a0006c0008 a0002c0003 a0006c0008	a0002c0003t0002 a0006c0008t0002 a0002c0003t0002 a0006c0008t0002	a0002c0003t0002g0009 a0002c0003t0002g0043 a0006c0008t0002g0009 others(1): Show a0002c0003t0002g0009 a0002c0003t0002g0043 a0006c0008t0002g0009 a0006c0008t0002g0041	5	334	0.0150	514	c.657 others(529): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCC CTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTT CCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCC GTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTC CCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTC CCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTC CCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCC CCCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTC CACCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTC TTCCCCCTTCCTCCCTCCTCCTTTCCTTTCTCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(507): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCC TTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTT CCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCC TCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCTTCTTCC CTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCC TCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCTTCCCCC CTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATC CCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCCTCCCTTCCCCCTTA CCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCC TCCTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0002 a0006c0008t0002	a0006c0008t0002g0073 a0006c0008t0002g0073	1	334	0.0030	514	c.657 others(529): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCC CTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTT CCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCC GTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTC CCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTC CCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTC CCTTCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCC CCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCC CTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTC TTCCCCCTTCCTCCCTCCTCCTTTCCTTTCTCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(507): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCCTCCGTCCCCCTTCTTCCCTCCTCCCTTCCCCC TTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTT CCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCC TCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCC CTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTT CTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCC CCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTAT CCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTTA CCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCC TCCTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0085 a0003c0004t0002g0085	1	334	0.0030	514	c.657 others(529): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCGTCCCCCTTCTTCC CTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTT CCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCC GTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTC CCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCC CCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTC CCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCC CCCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTC CACCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTC TTCCCCCTTCCTCCCTCCTCCTTTCCTTTCTCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
ULK1_chr12_131889622_131928150	131917187	C C	CGGAGGCT others(507): Show CGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGACGGGGGTCGGAGGCT GTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATG GGGGTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGACGGGGGTCGG AGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTG GGACGGGGGTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGATGGGG GTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGG CTGTGGGATGGGGCTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGA TGGGGGTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGATGGGGGTC GGGTGGGGCTCGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGAGGCTGT GGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGGGG AGCTCGGAGGCTGTG	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0303 a0001c0001t0028g0303	1	344	0.0029	514	c.218 others(531): Show c.2182+127_2182+128insAGGCTGTGGGATGGGGGTCGGAGGCTGT GGGACGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGG GGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGACGGGGGTCGGAG GCTGTGGGACGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGG ATGGGGGTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGACGGGGGT CGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCT GTGGGATGGGGGTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGACG GGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGACGGGGGTCGG AGGCTGTGGGATGGGGGTCGGGTGGGGCTCGAGGCTGTGGGACGGGGGTC GGGTTCGGCTCGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTG TGGGACGGGGGTCGGGGGGAGCTCGGAGGCTGTGGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
UNC5C_chr4_95157504_95553973	95196869	T T	TTATGTAA others(507): Show TTATGTAATATATAATATTTATATATTATATTTATGTAATATATAATATT TATATATTATATTTATGTAATATATAATATTTATATATTATATTTATGTA ATATATAATATTTATATATTATATTTATGTAATATATAATATTTATATAT TATATTTATGTAATATATAATATTTATATATATTTATGTAATATATAATA TTTATATATATTTATGTAATATATAATATTTATATATTATATTTATGTAA TATATAATATTTATATATTATATTTATGTAATATATAATATTTATATATT ATATTTATGTAATATATAATATATATTTATATATTATATTTATGTAATAT ATAATATATATTTATATATTATATTTATGTAATATATAATATATATTTAT ATATTATATGTATGTAATATATAATATATATTTATATATTATATGTATGT AATATATAATATATATTTATATATTATATGTATGTAATATATAATATATA TTTATATATTATATG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02572.hp1 HG02976.hp2 HG02257.hp1 HG02572.hp1 HG02976.hp2	a0001 a0001	a0001c0004 a0001c0005 a0001c0020 a0001c0004 a0001c0005 a0001c0020	a0001c0004t0001 a0001c0005t0001 a0001c0020t0001 a0001c0004t0001 a0001c0005t0001 a0001c0020t0001	a0001c0004t0001g0196 a0001c0005t0001g0043 a0001c0020t0001g0185 a0001c0004t0001g0196 a0001c0005t0001g0043 a0001c0020t0001g0185	3	204	0.0147	514	c.213 others(533): Show c.2136+5861_2136+5862insCATATAATATATAAATATATATTATA TATTACATACATATAATATATAAATATATATTATATATTACATACATATA ATATATAAATATATATTATATATTACATACATATAATATATAAATATATA TTATATATTACATAAATATAATATATAAATATATATTATATATTACATAA ATATAATATATAAATATATATTATATATTACATAAATATAATATATAAAT ATTATATATTACATAAATATAATATATAAATATTATATATTACATAAATA TAATATATAAATATTATATATTACATAAATATATATAAATATTATATATT ACATAAATATATATAAATATTATATATTACATAAATATAATATATAAATA TTATATATTACATAAATATAATATATAAATATTATATATTACATAAATAT AATATATAAATATTATATATTACATAAATATAATATATAAATATTATATA TTACATAAATATAATATATAAATATTATATATTACATA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	12/15			chr4	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(507): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCATCCCCTCCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCTCCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCTC CCCCTCCCCTCCCCCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCCTCCCC TCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCC TCCCCCTCTCTCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCC TCTCCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCCTCCCCCTCTC CTCTCCCCCTCCCCCGTCCCCCTCCCCCGTCCCCCTCCCCTCCCCCTCTC CCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCT CTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTTTCCCC CCTCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0017 a0003c0003t0017	a0003c0003t0017g0013 a0003c0003t0017g0013	1	246	0.0041	514	c.53- others(527): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCATCCC CTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CTCCTCCCCCTCCCCTCCCCCTCCCCTCTCCTCCTCTCCCCTCCTCTCCC CTCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCT CTCCCCTCCCCCTCTCTCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCC CTCTCCTCTCCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCCTCCC CCTCTCCTCTCCCCCTCCCCCGTCCCCCTCCCCCGTCCCCCTCCCCTCCC CCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCT CCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCT TTCCCCCCTCCCTTCCCCCTCCCTCTCCCCTC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
VWA2_chr10_114234254_114299489	114253205	C C	CCCTCCCC others(507): Show CCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCTCCTCCCCCTC CCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCCTCCCCTC CCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTC CCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCTC TCCCCTCCCCCTCTCACTCTCCCCCTCCTCTCCCCCTCTCCCCTCCCCCT CTCCCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCTCCC CTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCCTCCCCTCTCCCC CTCCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTCC CTTCCCCCTCCTCCT	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0228 a0002c0002t0001g0228	1	246	0.0041	514	c.53- others(527): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCTCCTCCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCT CTCCCCTCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTC CCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTGTCCCC CTCCTCTCCCCTCTCCCCTCCCCCTCTCACTCTCCCCCTCCTCTCCCCCT CTCCCCTCCCCCTCTCCCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCC TCCCCCTCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCCTCTCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCC CTCCCCTCTCCCCCTCCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCC CTTTCCCCCCTCCCTTCCCCCTCCTCCTCCTC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
WDR25_chr14_100371485_100535303	100526932	A A	ATCACCAC others(507): Show ATCACCACCACCACCACCATTATCACCAGGACCAGCACCATCAGCATCAC TATCTCTATACCCACCACCACCACCACTGTCATCATTGTCACTACTACCA CTCCTGTCATCACCACCACCACCACCACCACCACCATTATCACCAGGACC AGCACCATCAGCATCACTATCTCTATACCCACCACCACCACCACTGTCAT CATTGTCACTACTACCACTCCTGTCATCACCAGCACCACCACCATTATCA CCAGCACCACCGCCATTATCACCAGCACCACTGCCATCAGCATCACCATC ACCATCTTTGTACTCATCACCATCATCGTCACCACCGCGCCACCACCATC ACTGCCACCACTATTATCACTAGCACTACCACCATCAGCATCAGCATCAC CATCTGTATACTCACCACCATTACCATCATCGTCATCACTGCCACCACCA TCACCACTGTCCTCTTTATCTCCAGCACCACCATCATCGTCACTGTCACC ATACCACTCTCATCT	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0106 a0001c0003t0001g0106	1	228	0.0044	514	c.127 others(531): Show c.1272+902_1272+903insCACCACCATTATCACCAGGACCAGCACC ATCAGCATCACTATCTCTATACCCACCACCACCACCACTGTCATCATTGT CACTACTACCACTCCTGTCATCACCACCACCACCACCACCACCACCATTA TCACCAGGACCAGCACCATCAGCATCACTATCTCTATACCCACCACCACC ACCACTGTCATCATTGTCACTACTACCACTCCTGTCATCACCAGCACCAC CACCATTATCACCAGCACCACCGCCATTATCACCAGCACCACTGCCATCA GCATCACCATCACCATCTTTGTACTCATCACCATCATCGTCACCACCGCG CCACCACCATCACTGCCACCACTATTATCACTAGCACTACCACCATCAGC ATCAGCATCACCATCTGTATACTCACCACCATTACCATCATCGTCATCAC TGCCACCACCATCACCACTGTCCTCTTTATCTCCAGCACCACCATCATCG TCACTGTCACCATACCACTCTCATCTTCACCACCAC	WDR25	ENSG00000176473.14	transcript	ENST00000402312.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr14	TogoVar
WDR64_chr1_241647281_241807777	241675123	C C	CCTTCCTT others(507): Show CCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTC CCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTC CTTCCTCCCTCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTTC CTTCCTCCCTCCCTTCCTTCCTCCTCCCTCCTTCCTTCCTCCCTCCCTCC TTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCC TCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCT TCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCT CCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCCTCCCTCCCT CCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTC CCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTC CTTCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0026 a0001c0001t0004g0026	1	326	0.0031	514	c.483 others(529): Show c.483+381_483+382insTTCCTCCCTCCCTCCTTCCTTCCTCCCTCC CTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCC TCCCTCCCTCCTTCCTTCCTCCCTCCTTCCTTCCTCCCTCCCTCCCTCCT TCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCTCCCTCCTTCCT TCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCT CCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTC CCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTC CTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCC CTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCC CTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCC TCCCTCCCTCCTTCCTTCCTCCCTCCCTTCTTCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
WDR87_chr19_37879823_37911594	37881029	T T	TATATATA others(507): Show TATATATATTATATATATATATATAATATATATATATTATATATATATAT AATATATATATATTATATATATATATAATATATATATATTATATATATAA TATATATATATTATATATATATATAATATATATAATATATATATAATATA TATATATTATATATATATTATATATATTATATATATTATATATATATTAT ATATATATTATATATATATAATATATATAATATATATATAATATATATTA TATATATAATATATATATATTATATATATAATATATATTTAATATATATA TTATATATATAATATATATTATATATATAATATATATATTTAATATATAT TATATATATAATATATATATTATATATATAATATATATATAATATATATA TTATATATATAATATATATATTATATATATTATATATATATAATATATAT ATAATATATATTTAATATATATATTATATATATAATATATATTATATATA TAATATATGTATTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0001 a0010c0011t0001	a0010c0011t0001g0032 a0010c0011t0001g0032	1	330	0.0030	514	c.39 others(525): Show c.3902_*3903insTAAATACATATATTATATATATAATATATATTAT ATATATAATATATATATTAAATATATATTATATATATATTATATATATAT AATATATATAATATATATATTATATATATAATATATATATTATATATATA TTATATATATAATATATATATTATATATATAATATATATTAAATATATAT ATTATATATATAATATATATTATATATATAATATATATATTAAATATATA TTATATATATAATATATATATATTATATATATAATATATATTATATATAT ATTATATATATTATATATATATAATATATATATAATATATATATAATATA TATAATATATATAATATATATATAATATATATATATTATATATATATTAT ATATATTATATATATATATAATATATATATATTATATATATAATATATAT ATATTATATATATATATAATATATATATATTATATATATATATAATATAT ATATATTATATATATATATATAATATATAT	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3793		chr19	TogoVar
YBEY_chr21_46281342_46302751	46292883	C C	CGGTTAGC others(507): Show CGGTTAGCCTGACCCATGCCCGGGACTCAGTGGGGACAGCCACGCAAGTT AAACTCTAGATTAAATTCCTCCCTGGTTAGCCTGACCCATGCCCGGGACT CAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCTTGGT TAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGAC TCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAG TGGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTA GCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTC TAGATTAAATTCCTCCTTGGTTAGCCTGACCCGTGCCCGGGACTCAGTGG GGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCC TGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAG ATTAAATTCCTCCTT	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0356 a0001c0001t0002g0356	1	404	0.0025	514	c.339 others(531): Show c.339+1435_339+1436insATGCCCGGGACTCAGTGGGGACAGCCAC GCAAGTTAAACTCTAGATTAAATTCCTCCCTGGTTAGCCTGACCCATGCC CGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCT CCTTGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACGCAA GTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGG GACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCC GCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGT TAAACTCTAGATTAAATTCCTCCTTGGTTAGCCTGACCCGTGCCCGGGAC TCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCG GTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAA ACTCTAGATTAAATTCCTCCTTGGTTAGCCTGACCC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
ZC3H12B_chrX_65029826_65512887	65450462	T T	TATATGTG others(507): Show TATATGTGTATATATGTATATATGTATATATGTACATATGTATATATATG TATATATGTACATATGTATATATATGTATATATGTATATATACATATGTA TATATATGTACATATGTATATATATACATGTATACATATGTATACATGTA TATATATACATATGTATACATGTATATATGTATATATATACATGTATACA TATGTATATATGTATACATATGTATATATGTATACATATGTATATATGTA TATATGTATACATATGTATATATGTATATATGTATAAATATACATATGTA TATATATGTATATATGTATACATATGTATATATACATATGTATATATATG TATATATGTATACATATGTATATATACATATGTATATATATGTATACATA TGCATATATACATATGTATATATATGTATATATGTATACATATGTATATA TGCATATATATACATATGTATATATGCATATATATACATATGTGTATATA TGTATATATGTATAC	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	165	0.0061	514	c.-15 others(535): Show c.-156-38164_-156-38163insATGTATATATGTACATATGTATAT ATATGTATATATGTACATATGTATATATATGTATATATGTATATATACAT ATGTATATATATGTACATATGTATATATATACATGTATACATATGTATAC ATGTATATATATACATATGTATACATGTATATATGTATATATATACATGT ATACATATGTATATATGTATACATATGTATATATGTATACATATGTATAT ATGTATATATGTATACATATGTATATATGTATATATGTATAAATATACAT ATGTATATATATGTATATATGTATACATATGTATATATACATATGTATAT ATATGTATATATGTATACATATGTATATATACATATGTATATATATGTAT ACATATGCATATATACATATGTATATATATGTATATATGTATACATATGT ATATATGCATATATATACATATGTATATATGCATATATATACATATGTGT ATATATGTATATATGTATACATATGTGTATATATGTATAT	ZC3H12B	ENSG00000102053.13	transcript	ENST00000338957.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
ZC3H12B_chrX_65029826_65512887	65450477	G G	GTATATAT others(507): Show GTATATATGTATATATGTACATATGTATATATATGTATATATGTACATAT GTATATATATGTATATATGTATATATACATATGTATATATATGTACATAT GTATATATATACATGTATACATATGTATACATGTATATATATACATATGT ATACATGTATATATGTATATATATACATGTATACATATGTATATATGTAT ACATATGTATATATGTATATATGTATAAATATACATATGTATATATATGT ATATATGTATACATATGTATATATACATATGTATATATATGTATATATGT ATACATATGTATATATACATATGTATATATATGTATATATGTATACATAT GTATATATACATATGTATATATATGTATACATATGCATATATACATATGT ATATATATGTATATATGTATACATATGTATATATGCATATATATACATAT GTATATATGCATATATATACATATGTGTATATATGTATATATGTATACAT ATGTGTATATATGTA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	165	0.0061	514	c.-15 others(535): Show c.-156-38164_-156-38163insATGTATATATGTACATATGTATAT ATATGTATATATGTACATATGTATATATATGTATATATGTATATATACAT ATGTATATATATGTACATATGTATATATATACATGTATACATATGTATAC ATGTATATATATACATATGTATACATGTATATATGTATATATATACATGT ATACATATGTATATATGTATACATATGTATATATGTATATATGTATAAAT ATACATATGTATATATATGTATATATGTATACATATGTATATATACATAT GTATATATATGTATATATGTATACATATGTATATATACATATGTATATAT ATGTATATATGTATACATATGTATATATACATATGTATATATATGTATAC ATATGCATATATACATATGTATATATATGTATATATGTATACATATGTAT ATATGCATATATATACATATGTATATATGCATATATATACATATGTGTAT ATATGTATATATGTATACATATGTGTATATATGTATATAT	ZC3H12B	ENSG00000102053.13	transcript	ENST00000338957.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
ZNF365_chr10_62369369_62407450	62370841	C C	CATATATC others(507): Show CATATATCATATACATCATATACATCACATATATCATATACATCATATAC ATCACATATATCATATACATCATATACATCACATATATGATATATACATC ATATACATCACATATATGATATATATATCATATATATCACATATATGATA TATATCATATATATCACATATATGATATATATATCATATATCACATATAT GATATATATATCATATATCACATATATGATATATATATCATATATATCAT ATGATATATATCATATATATCATATGATATATATCATATATATCACATAT ATGATATATATCACATGTGATATATAGCATATATATCATGCTATACATCA TATATGATATATATGATATATATCACGTATGCTATATAGCATATGTGATA TATATGATATATATCACATATGCTATATAGCATATGTGATATATATGATA TATATCACATATGCTATATATCATATGTGATATATATGATATATATCACA TATGCTATATATCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	350	0.0029	514	c.-36 others(525): Show c.-3631_-3630insATATATCATATACATCATATACATCACATATATC ATATACATCATATACATCACATATATCATATACATCATATACATCACATA TATGATATATACATCATATACATCACATATATGATATATATATCATATAT ATCACATATATGATATATATCATATATATCACATATATGATATATATATC ATATATCACATATATGATATATATATCATATATCACATATATGATATATA TATCATATATATCATATGATATATATCATATATATCATATGATATATATC ATATATATCACATATATGATATATATCACATGTGATATATAGCATATATA TCATGCTATACATCATATATGATATATATGATATATATCACGTATGCTAT ATAGCATATGTGATATATATGATATATATCACATATGCTATATAGCATAT GTGATATATATGATATATATCACATATGCTATATATCATATGTGATATAT ATGATATATATCACATATGCTATATATCAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3527		chr10	TogoVar
ZNF543_chr19_57315472_57335770	57319459	C C	CATATGTA others(507): Show CATATGTACATATATATACATATACATACATATATATACATATATATACA TATACATACATATATATACATATATACATATACATACATATATACATATA CATACATATATATACATATACATACATATACATACATATACATACATATA CATACATATACATACATATATATACATATACATACATATACATACATATA TACATATATATACATATACATACATATATACATATATATACATATACATA CATATGTACATATATATACATATACATACATATGTACATATATATACATA TACATACATATGTACATATATATACATATACATACATATATATACATATA TATACATATACATACATATATATACATATATATACATATACACATATATA TACATATACATACATATATATACATATATATACATATACATACATATATA TACATATATATACATATACATACATATATATACATATATATACATATACA TACATATATATACAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0019 a0003c0008t0019	a0003c0008t0019g0149 a0003c0008t0019g0149	1	460	0.0022	514	c.-13 others(525): Show c.-1395_-1394insATATGTACATATATATACATATACATACATATAT ATACATATATATACATATACATACATATATATACATATATACATATACAT ACATATATACATATACATACATATATATACATATACATACATATACATAC ATATACATACATATACATACATATACATACATATATATACATATACATAC ATATACATACATATATACATATATATACATATACATACATATATACATAT ATATACATATACATACATATGTACATATATATACATATACATACATATGT ACATATATATACATATACATACATATGTACATATATATACATATACATAC ATATATATACATATATATACATATACATACATATATATACATATATATAC ATATACACATATATATACATATACATACATATATATACATATATATACAT ATACATACATATATATACATATATATACATATACATACATATATATACAT ATATATACATATACATACATATATATACAT	ZNF543	ENSG00000178229.8	transcript	ENST00000321545.5	protein_coding		1012		chr19	TogoVar
ACTRT3_chr3_169761921_169774561	169770602	A A	AATATAAA others(508): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAAAT TTATATTTATATATCATAAATAAAAATTTATATTTATATATCATAAATAA AAATTTATATTTATATATCATAAATAAAAATTTATATTTATATATCATAT ATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATC ATATATAAAAATTTATATTTATATATCATATAAAAATTTATATTTATATA TCATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATA TATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATT TATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTA TATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTA TATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAA TTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	515	c.-10 others(526): Show c.-1083_-1082insGATATATAAATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATATGATATATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATA TGATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTA TATATGATATATAAATATAAATTTTTATATGATATATAAATATAAATTTT TATATGATATATAAATATAAATTTTTATATATGATATATAAATATAAATT TTTATATATGATATATAAATATAAATTTTTATATATGATATATAAATATA AATTTTTATTTATGATATATAAATATAAATTTTTATTTATGATATATAAA TATAAATTTTTATTTATGATATATAAATATAAATTTTTATATATTTATGA TATATAAATATAAATTTTTATATATTTATAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1042		chr3	TogoVar
ARHGEF10_chr8_1818926_1963641	1825034	C C	CACACCCC others(508): Show CACACCCCACCTGTTCACCCGCACTCCACCTGTCCCCCCGCACTCCACCT GTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCTGCAC CCCACCTGTTCACCTGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCC CCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCAC CTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTTCACCCGC ACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCTGCACCCCACCTGTT CACCTGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCC ACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTC GCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTG TCCCCTCGCACCCCACCTGTCCTCCCCACACCCCACCTGTTTACTCTGCA CCCCAGCTGTCCCCCT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0014 a0001c0016t0014	a0001c0016t0014g0343 a0001c0016t0014g0343	1	363	0.0028	515	c.-48 others(530): Show c.-48+997_-48+998insGCACCCCACCTGTCCCCCTGCACCCCACCT GTTCACCTGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCAC CCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCC CCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTTCACCCGCACCCCAC CTGTCCCCCCGCACCCCACCTGTCCCCCTGCACCCCACCTGTTCACCTGC ACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTC CCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCC ACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTC GCACCCCACCTGTCCTCCCCACACCCCACCTGTTTACTCTGCACCCCAGC TGTCCCCCTACACCCCACCTGTTCACCCGCACTCCACCTGTCCCCCCGCA CTCCACCTGTCCCCCCGCACCCCACCTGTCCCCCC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ATP10A_chr15_25673712_25868327	25758124	C C	CCACCTGC others(508): Show CCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCCTAACTCATTCC GACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTCATT CCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAA CTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCA CCCTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTC CACCCTAACTCATTCCGATCACCTGCTCCACCCTCATTCCGACCACCTGC TCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACC ACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATT CGATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAAC TCATTCCGATCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCAC CCTAACTCATTCCGAT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0161 a0004c0004t0001g0161	1	300	0.0033	515	c.655 others(534): Show c.655-21984_655-21983insATCGGAATGAGTTAGGGTGGAGCAGG TGATCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGG AGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGATCGAATGAGTTAG GGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATG AGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTC GGAATGAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGA TCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAGCAGGT GGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGA GCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGGGTG GAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTT AGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAGCAGGTG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
CACNA1C_chr12_2047987_2702950	2407294	C C	CTCATCAT others(508): Show CTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCGTCCTG ATAAGTGTGCAGTGGACATCGTCTCCACCGACACCATGTGGGTACTGGGG AGCTTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCGTC CTGATAAGTGTGCAGTGGACATCGTCTCCACCGACACCATGTGGGTACTG GGGAGCCTCATCATGACCCAGTGGGAAGGAATGTCCTTTTGATAATAGCC GTCCTGATAAGTGTGCAGTGGACATCGTCTCCACCGACACCATGTGGGTA CTGGGGAGCCTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATA GCCGTCCTGATAAGTGTGCAGTGGACATCGTCTCCACCGACACCATGTGG GTACTGGGGAGCTTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATA ATAGCCGTCCTGATAAGTGTGCAGTGGACATCGTCTCCACCGACACCATG TGGGTACTGGGGAGCT	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0003 a0001c0010t0003	a0001c0010t0003g0054 a0001c0010t0003g0054	1	104	0.0096	515	c.478 others(534): Show c.478-41452_478-41451insTGTCCTTTTGATAATAGCCGTCCTGA TAAGTGTGCAGTGGACATCGTCTCCACCGACACCATGTGGGTACTGGGGA GCCTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCGTCC TGATAAGTGTGCAGTGGACATCGTCTCCACCGACACCATGTGGGTACTGG GGAGCTTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCG TCCTGATAAGTGTGCAGTGGACATCGTCTCCACCGACACCATGTGGGTAC TGGGGAGCTTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAG CCGTCCTGATAAGTGTGCAGTGGACATCGTCTCCACCGACACCATGTGGG TACTGGGGAGCTTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAA TAGCCGTCCTGATAAGTGTGCAGTGGACATCGTCTCCACCGACACCATGT GGGTACTGGGGAGCCTCATCATGACCCAGTGGGAAGGAA	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2407397	T T	TTCATCAT others(508): Show TTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCGTCCTG ATAAGTGTGCGGTGGACATCGTCTCCACCGACACCATGTGGGTACTGGGG AGCTTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCGTC CTGATAAGTGTGCAGTGGACATCGTCTCCACCGACACCATGTGGGTACTG GGGAGCCTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCC GTCCTGATAAGTGTGCAGTGGACATCGTCTCCACCGACACCATGTGGGTA CTGGGGAGCCTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATA GCCGTCCTGATAAGTGTGCGGTGGACATCGTCTCCACCGACACCATGTGG GTACTGGGGAGCCTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATA ATAGCCGTCCTGATAAGTGTGCAGTGGACATCGTCTCCACCGACACCATG TGGGTACTGGGGAGCC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0085 a0001c0003t0009g0085	1	104	0.0096	515	c.478 others(534): Show c.478-41520_478-41519insGGTGGACATCGTCTCCACCGACACCA TGTGGGTACTGGGGAGCTTCATCATGACCCAGTGGGAAGGAACGTCCTTT TGATAATAGCCGTCCTGATAAGTGTGCAGTGGACATCGTCTCCACCGACA CCATGTGGGTACTGGGGAGCCTCATCATGACCCAGTGGGAAGGAACGTCC TTTTGATAATAGCCGTCCTGATAAGTGTGCAGTGGACATCGTCTCCACCG ACACCATGTGGGTACTGGGGAGCCTCATCATGACCCAGTGGGAAGGAACG TCCTTTTGATAATAGCCGTCCTGATAAGTGTGCGGTGGACATCGTCTCCA CCGACACCATGTGGGTACTGGGGAGCCTCATCATGACCCAGTGGGAAGGA ACGTCCTTTTGATAATAGCCGTCCTGATAAGTGTGCAGTGGACATCGTCT CCACCGACACCATGTGGGTACTGGGGAGCCTCATCATGACCCAGTGGGAA GGAACGTCCTTTTGATAATAGCCGTCCTGATAAGTGTGC	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2407706	C C	CTCATCAT others(508): Show CTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCGTCCTG ATAAGTGTGCGGTGGACATCGTCTCCACCGACACCATGTGGGTACTGGGG AGCTTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCGTC CTGATAAGTGTGCGGTGGACATCGTCTCCACCGACACCATGTGGGTACTG GGGAGCCTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCC GTCCTGATAAGTGTGCAGTGGACATCGTCTCCACCGACACCATGTGGGTA CTGGGGAGCCTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATA GCCGTCCTGATAAGTGTGCGGTGGACATCGTCTCCACCGACACCATGTGG GTACTGGGGAGCCTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATA ATAGCCGTCCTGATAAGTGTGCAGTGGACATCGTCTCCACCGACACCATG TGGGTACTGGGGAGCT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0003 a0003	a0003c0023 a0003c0023	a0003c0023t0011 a0003c0023t0011	a0003c0023t0011g0048 a0003c0023t0011g0048	1	104	0.0096	515	c.478 others(534): Show c.478-41246_478-41245insCGTCCTTTTGATAATAGCCGTCCTGA TAAGTGTGCGGTGGACATCGTCTCCACCGACACCATGTGGGTACTGGGGA GCTTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCGTCC TGATAAGTGTGCGGTGGACATCGTCTCCACCGACACCATGTGGGTACTGG GGAGCCTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCG TCCTGATAAGTGTGCAGTGGACATCGTCTCCACCGACACCATGTGGGTAC TGGGGAGCCTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAG CCGTCCTGATAAGTGTGCGGTGGACATCGTCTCCACCGACACCATGTGGG TACTGGGGAGCCTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAA TAGCCGTCCTGATAAGTGTGCAGTGGACATCGTCTCCACCGACACCATGT GGGTACTGGGGAGCTTCATCATGACCCAGTGGGAAGGAA	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1H_chr16_1148106_1226768	1185577	T T	TGGCGGGT others(508): Show TGGCGGGTGAATAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGT GGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGT ACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGG GGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGG GGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGG GGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGT ACGGGGCAGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGT ACGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCG GGGTGTGTACGGGGCGGGTGAGTAGACGGTCAGCGTGCGTAGGGGCCGGA GGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCGTGCATAGGGGCCGGA GGCGGGGTGTGTACGG	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0134 a0001c0001t0015g0134	1	338	0.0030	515	c.300 others(532): Show c.300-9386_300-9385insATAGACGGTCGGCATGCATAGGGCCGGA GGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGA GGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCG GGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCG GGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCG GGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGA GGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGTCGGCGTGCGTAGGGGC CGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAG GGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCAGCGTGC GTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCGTGC ATAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGA	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAMKK2_chr12_121232692_121301709	121255344	A A	ATATATAT others(508): Show ATATATATATAATTTTATATATAATTATATATATAATTTTATATATAATT ATATATATAATTTTATATATAATTATATATATAATTTTATATATAATTAT ATATATAATTTTATATATAATTATATATATAATTTTATATATATATAATT ATATATATTATATAATTTTATATATATAATTATATATATTATATAATTAT ATATATAATTTTATATATATATAATTATATATACAATTTTATAATATATA TAATTATATATACAATTATATATATATATAATTATATATATATAATTGTA TATATAATTTTATATATATAATTATATATAATTTTATATATATATAATTA TATATATAATTATATATATATAATTATATATATTTATATATATATATAAT TATATATATATAATTATATATATTTATATATATATATAATTATATATATA ATTTTATATATATAATTTTATATAATTTTATATATAATTATATATATAAT TTTATATATATAATTT	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA19079.hp2 HG02132.hp2 NA19079.hp2	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0001 a0004c0010t0001	a0004c0010t0001g0207 a0004c0010t0001g0286 a0004c0010t0001g0207 a0004c0010t0001g0286	2	330	0.0061	515	c.907 others(530): Show c.907+205_907+206insAAATTATATATATAAAATTATATATATAAT TATATATAAAATTATATAAAATTATATATATAAAATTATATATATAATTA TATATATATATAAATATATATAATTATATATATATAATTATATATATATA TAAATATATATAATTATATATATATAATTATATATATAATTATATATATA TAAAATTATATATAATTATATATATAAAATTATATATACAATTATATATA TATAATTATATATATATATAATTGTATATATAATTATATATATTATAAAA TTGTATATATAATTATATATATATAAAATTATATATATAATTATATAATA TATATAATTATATATATAAAATTATATAATATATATAATTATATATATAT AAAATTATATATATAATTATATATAAAATTATATATATAATTATATATAA AATTATATATATAATTATATATAAAATTATATATATAATTATATATAAAA TTATATATATAATTATATATAAAATTATATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CCDC57_chr17_82096470_82217842	82215658	G G	GCCCCCAC others(508): Show GCCCCCACACCTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTG CAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCC CCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGC CCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCA GCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCT CCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCC ACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCCACACTGCAGCAC CCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTT CCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACAC TGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTC CCCCCTCCTTCCCTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	252	0.0040	515	c.-28 others(526): Show c.-2883_-2882insGCAGGGAAGGAGGGGGGAGGGGTGCTGCAGTGTG GGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGG AGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGC TGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGG GCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGG GGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCA GTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGG GAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAG GGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGGAGGGGTGCTGCAGT GTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGA AGGAGGGGGAGGGGTGCTGCAGGTGTGGGGG	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding		2817		chr17	TogoVar
CCDC77_chr12_396644_447642	420346	A A	AAACACAC others(508): Show AAACACACATAGCAGCACACTCCATGCTCCATTACAGTGCTCTTCTGTGT GTGTGTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACCCTCCATGT TCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAC ACACATAGCAGCACACTCCATGTTCCATTACAGTGCGCTTCTGTGTGTGT GTGCTGGGAGTGAGAGGGTAAAATACACACATAGCAGCACCCTCCATGCT CCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAATA CACACATAGCAGCACCCTCCATGTTCCATTACAGTGCTCTTCTGTGTGTG TGTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACCCTCCATGTTCC ATTACAGTGCGCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACA CATAGCAGCACCCTCCATGTTCCATTACAGTGCACTTCTGTGTGTGTGTG CTGGGAGTGAGAGGGT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	432	0.0023	515	c.413 others(532): Show c.413+1712_413+1713insCACACATAGCAGCACACTCCATGCTCCA TTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACAC ATAGCAGCACCCTCCATGTTCCATTACAGTGCACTTCTGTGTGTGTGTGC TGGGAGTGAGAGGGTAAACACACATAGCAGCACACTCCATGTTCCATTAC AGTGCGCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACACACA TAGCAGCACCCTCCATGCTCCATTACAGTGCACTTCTGTGTGTGTGTGCT GGGAGTGAGAGGGTAAATACACACATAGCAGCACCCTCCATGTTCCATTA CAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACACATA GCAGCACCCTCCATGTTCCATTACAGTGCGCTTCTGTGTGTGTGTGCTGG GAGTGAGAGGGTAAACACACATAGCAGCACCCTCCATGTTCCATTACAGT GCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAA	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC77_chr12_396644_447642	421823	A A	AAACACAC others(508): Show AAACACACATAGCAGCACCCTCCATGTTCCATTACAGTGCACTTCTGTGT GTGTGTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACCCTCCATG CTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAA ATACACATAGCAGCACCCTCCATGTTCCATTACAGTGCACTTCTGTGTGT GTGTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACACTCCATGCTC CATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAACA CACATAGCAGCACCCTCCATGCTCCATTACAGTGCTCTTCTGTGTGTGTG TGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACCCTCCATGTTCCA TTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAACACA CATAGCAGCACACTCCATGTTCCATTACAGTGCACTTCTGTGTGTGTGTG CTGGGAGTGAGAGGGT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02723.hp2 HG02886.hp2 HG01884.hp2 HG02723.hp2 HG02886.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0188 a0003c0003t0001g0189 a0003c0003t0001g0342 a0003c0003t0001g0188 a0003c0003t0001g0189 a0003c0003t0001g0342	3	432	0.0069	515	c.413 others(532): Show c.413+3188_413+3189insACACACATAGCAGCACCCTCCATGTTCC ATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATAC ACATAGCAGCACCCTCCATGCTCCATTACAGTGCTCTTCTGTGTGTGTGT GCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACCCTCCATGTTCCAT TACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACACA TAGCAGCACACTCCATGCTCCATTACAGTGCACTTCTGTGTGTGTGTGCT GGGAGTGAGAGGGTAAAACACACATAGCAGCACCCTCCATGCTCCATTAC AGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACACATA GCAGCACCCTCCATGTTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGG GAGTGAGAGGGTAAAACACACATAGCAGCACACTCCATGTTCCATTACAG TGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTA	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CDON_chr11_125951821_126067866	126065127	G G	GTGATAGT others(508): Show GTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGT GATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTAT TAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTA AGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAG AGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAG GTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGT GATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0006 a0008c0007t0006	a0008c0007t0006g0274 a0008c0007t0006g0274	1	334	0.0030	515	c.-26 others(526): Show c.-2611_-2610insTCACCTCTTAATACTATCACCTCTTAATACTATC ACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCAC CTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCT CTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCT TAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTA ATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAAT ACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATAC TATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTA TCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATC ACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCAC CTCTTAATACTATCACCTCTTAATACTATCA	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2262		chr11	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(508): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCC TTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTT CCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCC TCCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCC CCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCT TCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCC CCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTA TCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTT ACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCC CTCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0010 a0002c0001t0002g0010	1	354	0.0028	515	c.69 others(526): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCC CTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTT CCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCC GTCCCCCTTCCTCCCTCCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTT CCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCC CCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCT CCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTC CCCCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTT CCACCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCT CTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(508): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCC TTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTT CCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCC TCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCC CTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTT CTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCC CCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTAT CCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTTA CCCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCC CTCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0002 a0002c0001t0002g0002	1	354	0.0028	515	c.69 others(526): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCC CTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTT CCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCC GTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTC CCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCC CCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTC CCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCC CCCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTC CACCCTTCCCCCTTACCCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCT CTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(508): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCT CTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCCCCTCCCCCTCCTCTTCCT CCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCC TCCTCTTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTC CTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp1 HG03491.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0036 a0001c0001t0002 a0001c0001t0036	a0001c0001t0002g0100 a0001c0001t0036g0099 a0001c0001t0002g0100 a0001c0001t0036g0099	2	270	0.0074	515	c.162 others(536): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCT CCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCCTCTTCC TCCCCCTCCCCCTCCTCTTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTC CTCCTCCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCT CCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar

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Search Results (Total: 10000 hits)