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
LAMA2_chr6_128878138_129521566	129415925	TGAAATTA others(307): Show TGAAATTATACACTTTCTTTCTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00323.hp2 others(50): Show HG00099.hp1 HG00323.hp1 HG00323.hp2 HG01074.hp2 HG01192.hp1 HG01261.hp1 HG02055.hp1 HG02055.hp2 HG02257.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp2 HG02698.hp1 HG02717.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03486.hp1 HG03486.hp2 HG03688.hp1 HG03710.hp1 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18946.hp2 NA18973.hp1 NA18973.hp2 NA18979.hp2 NA19043.hp1 NA19043.hp2 NA19060.hp2 NA19084.hp2 NA20129.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(20): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0011 a0012 a0013 a0014 a0015 a0016 a0020 a0021 a0024 a0026 a0027 a0029 a0031 a0034 a0035	a0001c0001 a0001c0011 a0002c0003 others(36): Show a0001c0001 a0001c0011 a0002c0003 a0002c0004 a0002c0029 a0002c0054 a0002c0056 a0003c0002 a0003c0020 a0003c0031 a0004c0018 a0004c0041 a0004c0044 a0004c0051 a0005c0015 a0005c0042 a0005c0050 a0006c0007 a0007c0046 a0007c0047 a0009c0024 a0009c0064 a0011c0022 a0011c0028 a0012c0005 a0013c0069 a0014c0008 a0015c0010 a0016c0043 a0016c0070 a0020c0025 a0021c0023 a0024c0021 a0026c0060 a0027c0052 a0029c0045 a0031c0037 a0034c0055 a0035c0057	a0001c0001t0001 a0001c0011t0001 a0001c0011t0002 others(40): Show a0001c0001t0001 a0001c0011t0001 a0001c0011t0002 a0002c0003t0003 a0002c0003t0005 a0002c0004t0001 a0002c0004t0007 a0002c0029t0002 a0002c0054t0004 a0002c0056t0003 a0003c0002t0001 a0003c0002t0002 a0003c0020t0008 a0003c0031t0002 a0004c0018t0001 a0004c0041t0004 a0004c0044t0003 a0004c0051t0001 a0005c0015t0001 a0005c0042t0002 a0005c0050t0001 a0006c0007t0002 a0007c0046t0001 a0007c0047t0006 a0009c0024t0004 a0009c0064t0004 a0011c0022t0003 a0011c0028t0003 a0012c0005t0003 a0013c0069t0004 a0014c0008t0002 a0015c0010t0003 a0016c0043t0002 a0016c0070t0001 a0020c0025t0001 a0021c0023t0002 a0024c0021t0005 a0026c0060t0001 a0027c0052t0001 a0029c0045t0002 a0031c0037t0001 a0034c0055t0002 a0035c0057t0003	a0001c0001t0001g0001 a0001c0001t0001g0052 a0001c0001t0001g0056 others(50): Show a0001c0001t0001g0001 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0070 a0001c0001t0001g0087 a0001c0011t0001g0040 a0001c0011t0002g0003 a0002c0003t0003g0038 a0002c0003t0003g0039 a0002c0003t0005g0010 a0002c0004t0001g0033 a0002c0004t0007g0024 a0002c0029t0002g0064 a0002c0054t0004g0049 a0002c0056t0003g0077 a0003c0002t0001g0065 a0003c0002t0002g0021 a0003c0002t0002g0083 a0003c0020t0008g0027 a0003c0031t0002g0005 a0004c0018t0001g0032 a0004c0041t0004g0059 a0004c0044t0003g0020 a0004c0051t0001g0008 a0005c0015t0001g0061 a0005c0042t0002g0007 a0005c0050t0001g0060 a0006c0007t0002g0009 a0006c0007t0002g0081 a0007c0046t0001g0066 a0007c0047t0006g0026 a0009c0024t0004g0055 a0009c0064t0004g0076 a0011c0022t0003g0017 a0011c0028t0003g0011 a0012c0005t0003g0034 a0012c0005t0003g0035 a0013c0069t0004g0068 a0014c0008t0002g0084 a0014c0008t0002g0085 a0015c0010t0003g0054 a0015c0010t0003g0082 a0016c0043t0002g0047 a0016c0070t0001g0051 a0020c0025t0001g0029 a0021c0023t0002g0086 a0024c0021t0005g0014 a0026c0060t0001g0044 a0027c0052t0001g0018 a0029c0045t0002g0006 a0031c0037t0001g0063 a0034c0055t0002g0030 a0035c0057t0003g0043	53	88	0.6023	-314	c.586 others(21): Show c.5866-11807_5866-11494del	LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	40/64		INFO_REALIGN_3_PRIME	chr6	TogoVar
LYPLA1_chr8_54041367_54106947	54059289	TATTTTCC others(307): Show TATTTTCCCTGTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGC CCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCT CCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00438.hp1 others(171): Show HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00642.hp1 HG00735.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01243.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01433.hp1 HG01515.hp1 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03688.hp1 HG03704.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18939.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18946.hp2 NA18947.hp2 NA18952.hp1 NA18955.hp2 NA18956.hp2 NA18961.hp2 NA18962.hp2 NA18964.hp1 NA18967.hp1 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18973.hp1 NA18978.hp2 NA18991.hp2 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19002.hp1 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp2 NA19077.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19086.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA20300.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0001c0005 others(1): Show a0001c0001 a0001c0004 a0001c0005 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0004t0001 a0001c0005t0001 a0003c0003t0002 a0003c0003t0009	a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0126 others(167): Show a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0002g0010 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0003g0176 a0001c0001t0003g0279 a0001c0001t0005g0047 a0001c0001t0006g0012 a0001c0001t0007g0233 a0001c0004t0001g0209 a0001c0005t0001g0132 a0003c0003t0002g0143 a0003c0003t0002g0144 a0003c0003t0009g0140	174	306	0.5686	-314	c.286 others(17): Show c.286+2651_286+2964del	LYPLA1	ENSG00000120992.18	transcript	ENST00000316963.8	protein_coding	5/8			chr8	TogoVar
MAEA_chr4_1284891_1345137	1333666	CCACCCCT others(307): Show CCACCCCTGCACCCACCCCATGCCCACCGTGTGCTCACCCCCTTGCCCAC CCCCATGCCCGTGCTCACCTCTGCACCCACCCCATGCCCACCCCCATGCC CACCTGTGCTCACCCCCATGCCCACTCCCGTGCCCATGTGCCCACCCCTG CACCCACCCCATGCCCACCGTGTGCTCACCCCCCTGCCCACCCCCATGCC CGTGCTCACCTCTGCACCCACCCCATGCCCACCCCCATGCCCACCTGTGC TCACCCCCATGCCCACTCCCGTGCCCATGTGCCCACCCCTGCACCCACCC CCATGCCCGTGTGCT	C C	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0224 a0001c0001t0016g0224	1	388	0.0026	-314	c.765 others(16): Show c.765+816_765+1129del	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAN2B2_chr4_6570189_6628362	6624613	GGAGAAAC others(307): Show GGAGAAACCCCGTCTCTACTAAACATACAAAATTAGCCGGGCATGGTGGT GGGCACCTGTAATCCCAGCTACCCGGGAGGCTGAGGCAGGAGAATCTCTT GAACCCAGAAGGCGGAGATTGCGGTGAGCCGAGATCGTGCCACTGCGCTC CAGCCTGGGCGACAAGAGCGAAACTCTGTCTCAAAAAAAAAAAAACACAC ACACACACACACACACAAGTGCACATCTTCGTCCGTTTGGGCTGCTGTCA TAGAATCCCGTACACTTTGGGAGGCCAAGGTGGGCGGATCACAAGGTCAG GAGATCGAGACCACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02280.hp2 HG02630.hp2 others(2): Show HG02257.hp2 HG02280.hp2 HG02630.hp2 HG03041.hp2 HG03486.hp1	a0030 a0034 a0040 others(2): Show a0030 a0034 a0040 a0041 a0043	a0030c0058 a0034c0056 a0040c0039 others(2): Show a0030c0058 a0034c0056 a0040c0039 a0041c0042 a0043c0040	a0030c0058t0007 a0034c0056t0007 a0040c0039t0007 others(2): Show a0030c0058t0007 a0034c0056t0007 a0040c0039t0007 a0041c0042t0007 a0043c0040t0015	a0030c0058t0007g0127 a0034c0056t0007g0221 a0040c0039t0007g0050 others(2): Show a0030c0058t0007g0127 a0034c0056t0007g0221 a0040c0039t0007g0050 a0041c0042t0007g0077 a0043c0040t0015g0039	5	362	0.0138	-314	c.33 others(11): Show c.3329_*3642del	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding		1252		chr4	TogoVar
MLPH_chr2_237482251_237560322	237544522	GGGGGGGG others(307): Show GGGGGGGGACAGTTGTTGAGTTGGGGGACACTTTAGTGTTGGGGGGGACA TTGTTTATTGGGGGCATAGTGGTGTGTGGTTGTCAGTGTGTGGTGGTGGT CAGTGGTGATTGGGCACTGTAGTGAGTGGGGGGACAGTGGTGAGTGGGAG GACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGG CACGGTGGTGAGTGGGGGGACAGTGGTGAGTGGGCACGGTGGTGAGTGGA GGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGT GGGGGGACAGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	286	0.0035	-314	c.153 others(19): Show c.1539+1870_1540-1764del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MYOM2_chr8_2040046_2150456	2085538	CGTGGCCC others(307): Show CGTGGCCCCACTGTCATGATCTCTGCGTGGCCCCACTGTTGTGATCTCTG CGTGGCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTC TTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCACTGTCGTGATC TCTGCGTGGCCCCCCACTGTCGTGATCTCTTTGTGGCCCCCCACTGTTGT GATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCTACTG TCGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTGCGTGGCCCCAC TGTCGTGATCTCTTT	C C	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0004 a0004	a0004c0159 a0004c0159	a0004c0159t0001 a0004c0159t0001	a0004c0159t0001g0041 a0004c0159t0001g0041	1	403	0.0025	-314	c.164 others(17): Show c.1644+157_1644+470del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2086174	CGTGGCCC others(307): Show CGTGGCCCCACTGTCATGATCTCTGCGTGGCCCCACTGTCATGATCTCTT TGTGGCCCCCCACTGTTGTGATCTTTGCGTGGCCCCACTGTCATGATCTC TGGCACCCCACTGTCGTGATCTCCGCGTGGCCCCCCACAGTCGTGATCTC TGCGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCTCCCACTGTTGTGA TCTCTGCGTGGCCTCCCACTGTTGTGATCTCTGCGTGGCCTCCCACTGTT GTGATCTCTGCGTGGCCCCCTACTGTCGTGATCTCCACGTGGCCACACAC TGTCATGATCTCTGT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0002 a0002	a0002c0105 a0002c0105	a0002c0105t0001 a0002c0105t0001	a0002c0105t0001g0341 a0002c0105t0001g0341	1	403	0.0025	-314	c.164 others(18): Show c.1644+793_1644+1106del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
NTM_chr11_131365615_132341822	132213718	TGGGCCAC others(307): Show TGGGCCACCATTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCTGGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00741.hp1 HG00741.hp2 others(21): Show HG00642.hp2 HG00741.hp1 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01169.hp2 HG01243.hp1 HG01515.hp2 HG01517.hp2 HG01978.hp1 HG02055.hp1 HG02258.hp1 HG02615.hp2 HG02809.hp2 HG02922.hp1 HG03098.hp1 HG03130.hp1 HG03239.hp1 HG03710.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA20752.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0012 a0002c0003t0006	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0057 others(21): Show a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0002g0018 a0001c0001t0002g0025 a0001c0001t0002g0033 a0001c0001t0002g0064 a0001c0001t0002g0076 a0001c0001t0004g0005 a0001c0001t0005g0001 a0001c0001t0007g0007 a0001c0001t0007g0059 a0001c0001t0009g0050 a0001c0002t0001g0010 a0001c0002t0001g0066 a0001c0002t0002g0069 a0001c0002t0005g0026 a0001c0002t0005g0039 a0001c0002t0012g0068 a0002c0003t0006g0011	24	86	0.2791	-314	c.526 others(17): Show c.526+1586_526+1899del	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
PCGF6_chr10_103297796_103356140	103337765	TAAAAATA others(307): Show TAAAAATACAAAATTAGCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTAAAACGGCGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGTGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(174): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00423.hp1 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00639.hp1 HG00673.hp1 HG00733.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01256.hp2 HG01261.hp2 HG01346.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG02004.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02145.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02486.hp1 HG02572.hp2 HG02602.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02738.hp2 HG02809.hp1 HG02895.hp2 HG02897.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03139.hp1 HG03239.hp2 HG03471.hp1 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp2 NA18957.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18967.hp1 NA18968.hp2 NA18969.hp2 NA18971.hp1 NA18973.hp2 NA18975.hp1 NA18977.hp2 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18988.hp2 NA18990.hp1 NA18993.hp1 NA18993.hp2 NA18995.hp2 NA19002.hp1 NA19003.hp1 NA19009.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp2 NA19055.hp2 NA19064.hp2 NA19065.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19080.hp2 NA19081.hp1 NA19085.hp1 NA19087.hp2 NA19090.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0002c0004 others(2): Show a0001c0001 a0002c0002 a0002c0004 a0003c0003 a0004c0005	a0001c0001t0003 a0002c0002t0001 a0002c0002t0002 others(7): Show a0001c0001t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0004t0001 a0003c0003t0002 a0004c0005t0003	a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0003g0193 others(170): Show a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0208 a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0066 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0074 a0002c0002t0001g0077 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0102 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0152 a0002c0002t0001g0155 a0002c0002t0001g0156 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0165 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0171 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0082 a0002c0002t0002g0085 a0002c0002t0002g0101 a0002c0002t0002g0103 a0002c0002t0002g0125 a0002c0002t0002g0126 a0002c0002t0002g0131 a0002c0002t0002g0133 a0002c0002t0002g0134 a0002c0002t0002g0135 a0002c0002t0002g0136 a0002c0002t0002g0137 a0002c0002t0002g0138 a0002c0002t0002g0151 a0002c0002t0002g0153 a0002c0002t0002g0154 a0002c0002t0002g0160 a0002c0002t0004g0012 a0002c0002t0004g0016 a0002c0002t0004g0020 a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 a0002c0002t0004g0024 a0002c0002t0004g0025 a0002c0002t0004g0026 a0002c0002t0004g0027 a0002c0002t0004g0030 a0002c0002t0004g0031 a0002c0002t0004g0036 a0002c0002t0004g0043 a0002c0002t0004g0073 a0002c0002t0005g0008 a0002c0002t0006g0086 a0002c0002t0007g0078 a0002c0004t0001g0009 a0003c0003t0002g0132 a0004c0005t0003g0364	177	372	0.4758	-314	c.783 others(17): Show c.783-4127_783-3814del	PCGF6	ENSG00000156374.16	transcript	ENST00000369847.4	protein_coding	6/9			chr10	TogoVar
PECAM1_chr17_64314415_64395860	64360870	TACCCAGG others(307): Show TACCCAGGCTGGAGTGCACTGGTGCGATGACAGCTCACTACAACCTCCCA GAATCAAGCAATCCTCCTACCTCAGCCTCCCGAGTAGCTGGGACTATAGG TGCACACCACACCTGGCTAATTCTTTATTTTTTGTAGAGACAGGGTCTCA CTATGTGCTCAGGCTGGTCTTGAACTCCTGGACTCAAGTGATCCTCCCAC ATCAGCTGCCCAAAGTGCTGGGATTATAAGTATGAGCCACCACACCTGGC TGAGCATATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTCTGAGACC GAGTCTTGCTCTGTC	T T	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0262 a0002c0002t0001g0262	1	288	0.0035	-314	c.121 others(17): Show c.1217-769_1217-456del	PECAM1	ENSG00000261371.6	transcript	ENST00000563924.6	protein_coding	6/15			chr17	TogoVar
PLEKHS1_chr10_113746682_113788429	113749359	TAAAAACC others(307): Show TAAAAACCTATGCTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTGCTAAAAATACAAAAAATTA GCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CGCGCCACTGCACTCCAGCCTGGGCGACAGAGCTAGACTCCGTCTCAAAA AAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG00621.hp1 others(33): Show HG00408.hp1 HG00544.hp1 HG00621.hp1 HG01081.hp2 HG01168.hp2 HG01433.hp2 HG01515.hp1 HG02015.hp2 HG02056.hp2 HG02155.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02630.hp2 HG02698.hp2 HG02886.hp2 HG02970.hp1 HG03017.hp2 HG03098.hp2 HG03139.hp2 HG03669.hp2 HG04199.hp1 NA18906.hp2 NA18942.hp1 NA18954.hp1 NA18981.hp1 NA19000.hp2 NA19002.hp2 NA19006.hp2 NA19057.hp2 NA19064.hp2 NA19065.hp2 NA19070.hp2 NA19240.hp2 NA20805.hp1 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0003 a0001c0004 others(4): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002 a0002c0006 a0003c0005 a0006c0014	a0001c0001t0001 a0001c0001t0010 a0001c0001t0012 others(9): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0003t0003 a0001c0004t0004 a0001c0004t0011 a0001c0004t0037 a0002c0002t0002 a0002c0006t0001 a0003c0005t0018 a0006c0014t0001	a0001c0001t0001g0052 a0001c0001t0001g0183 a0001c0001t0001g0232 others(27): Show a0001c0001t0001g0052 a0001c0001t0001g0183 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0010g0025 a0001c0001t0012g0060 a0001c0001t0012g0061 a0001c0001t0012g0062 a0001c0001t0013g0056 a0001c0001t0013g0057 a0001c0003t0003g0237 a0001c0004t0004g0016 a0001c0004t0004g0229 a0001c0004t0004g0238 a0001c0004t0004g0239 a0001c0004t0004g0242 a0001c0004t0011g0153 a0001c0004t0011g0228 a0001c0004t0037g0016 a0002c0002t0002g0004 a0002c0002t0002g0234 a0002c0006t0001g0230 a0002c0006t0001g0235 a0002c0006t0001g0236 a0003c0005t0018g0030 a0006c0014t0001g0231	36	402	0.0896	-314	c.-24 others(11): Show c.-2421_-2108del	PLEKHS1	ENSG00000148735.16	transcript	ENST00000694986.1	protein_coding		2322		chr10	TogoVar
RNF115_chr1_145733868_145829095	145766533	GCCGGGCA others(307): Show GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGTCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCG GCTGGCCGGGGGGGGGGGGGGGGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGT	G G	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0143 a0001c0001t0002g0143	1	272	0.0037	-314	c.428 others(17): Show c.428+4864_428+5177del	RNF115	ENSG00000265491.5	transcript	ENST00000582693.5	protein_coding	4/8			chr1	TogoVar
SEMA5A_chr5_9030033_9551075	9411648	TAAAAATT others(307): Show TAAAAATTAATCTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(124): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01123.hp1 HG01123.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01981.hp1 HG01981.hp2 HG02040.hp1 HG02040.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03831.hp1 HG03831.hp2 HG04115.hp1 HG04115.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18944.hp1 NA18944.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18970.hp1 NA18970.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19068.hp1 NA19068.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(19): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0013 a0001c0015 a0001c0016 a0001c0017 a0001c0018 a0001c0022 a0001c0023 a0002c0014 a0003c0020 a0004c0019 a0005c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(100): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0023 a0001c0001t0024 a0001c0001t0028 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0001t0035 a0001c0001t0039 a0001c0001t0046 a0001c0001t0053 a0001c0001t0054 a0001c0001t0056 a0001c0001t0061 a0001c0001t0064 a0001c0001t0067 a0001c0001t0068 a0001c0001t0070 a0001c0001t0077 a0001c0001t0078 a0001c0001t0081 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0009 a0001c0002t0022 a0001c0002t0040 a0001c0002t0045 a0001c0002t0047 a0001c0002t0050 a0001c0002t0060 a0001c0002t0063 a0001c0002t0082 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0005 a0001c0003t0006 a0001c0003t0010 a0001c0003t0019 a0001c0003t0041 a0001c0003t0051 a0001c0003t0072 a0001c0003t0079 a0001c0003t0080 a0001c0004t0001 a0001c0004t0002 a0001c0004t0005 a0001c0004t0010 a0001c0004t0049 a0001c0004t0062 a0001c0004t0069 a0001c0005t0001 a0001c0005t0002 a0001c0005t0007 a0001c0005t0042 a0001c0005t0048 a0001c0005t0052 a0001c0005t0065 a0001c0006t0001 a0001c0006t0007 a0001c0006t0014 a0001c0006t0021 a0001c0006t0043 a0001c0006t0058 a0001c0007t0003 a0001c0007t0012 a0001c0007t0016 a0001c0007t0017 a0001c0007t0025 a0001c0007t0031 a0001c0007t0034 a0001c0008t0001 a0001c0008t0004 a0001c0008t0027 a0001c0009t0001 a0001c0009t0002 a0001c0010t0075 a0001c0010t0076 a0001c0011t0037 a0001c0011t0073 a0001c0013t0036 a0001c0015t0008 a0001c0016t0038 a0001c0017t0074 a0001c0018t0002 a0001c0022t0055 a0001c0023t0018 a0002c0014t0057 a0003c0020t0071 a0004c0019t0059 a0005c0012t0029	a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0018 others(124): Show a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0076 a0001c0001t0002g0131 a0001c0001t0006g0061 a0001c0001t0008g0111 a0001c0001t0008g0122 a0001c0001t0011g0028 a0001c0001t0011g0075 a0001c0001t0013g0036 a0001c0001t0013g0056 a0001c0001t0014g0077 a0001c0001t0015g0092 a0001c0001t0015g0093 a0001c0001t0016g0090 a0001c0001t0017g0091 a0001c0001t0018g0098 a0001c0001t0019g0118 a0001c0001t0023g0017 a0001c0001t0024g0025 a0001c0001t0028g0006 a0001c0001t0030g0032 a0001c0001t0032g0067 a0001c0001t0033g0057 a0001c0001t0035g0059 a0001c0001t0039g0072 a0001c0001t0046g0023 a0001c0001t0053g0080 a0001c0001t0054g0094 a0001c0001t0056g0096 a0001c0001t0061g0116 a0001c0001t0064g0127 a0001c0001t0067g0128 a0001c0001t0068g0129 a0001c0001t0070g0117 a0001c0001t0077g0101 a0001c0001t0078g0109 a0001c0001t0081g0133 a0001c0002t0001g0069 a0001c0002t0001g0071 a0001c0002t0002g0099 a0001c0002t0004g0026 a0001c0002t0004g0034 a0001c0002t0009g0002 a0001c0002t0009g0003 a0001c0002t0022g0073 a0001c0002t0040g0058 a0001c0002t0045g0040 a0001c0002t0047g0053 a0001c0002t0050g0013 a0001c0002t0060g0085 a0001c0002t0063g0100 a0001c0002t0082g0134 a0001c0003t0001g0027 a0001c0003t0002g0102 a0001c0003t0003g0031 a0001c0003t0005g0021 a0001c0003t0006g0047 a0001c0003t0006g0074 a0001c0003t0010g0048 a0001c0003t0019g0104 a0001c0003t0041g0016 a0001c0003t0051g0079 a0001c0003t0072g0124 a0001c0003t0079g0126 a0001c0003t0080g0132 a0001c0004t0001g0020 a0001c0004t0001g0030 a0001c0004t0001g0039 a0001c0004t0001g0041 a0001c0004t0002g0120 a0001c0004t0002g0121 a0001c0004t0005g0044 a0001c0004t0005g0050 a0001c0004t0010g0049 a0001c0004t0049g0011 a0001c0004t0062g0114 a0001c0004t0069g0103 a0001c0005t0001g0005 a0001c0005t0001g0051 a0001c0005t0001g0052 a0001c0005t0001g0054 a0001c0005t0002g0115 a0001c0005t0007g0082 a0001c0005t0042g0070 a0001c0005t0048g0022 a0001c0005t0052g0097 a0001c0005t0065g0123 a0001c0006t0001g0024 a0001c0006t0001g0078 a0001c0006t0007g0088 a0001c0006t0014g0060 a0001c0006t0021g0001 a0001c0006t0043g0007 a0001c0006t0058g0083 a0001c0007t0003g0063 a0001c0007t0012g0064 a0001c0007t0016g0095 a0001c0007t0017g0084 a0001c0007t0025g0062 a0001c0007t0031g0012 a0001c0007t0034g0033 a0001c0008t0001g0046 a0001c0008t0004g0066 a0001c0008t0027g0035 a0001c0009t0001g0045 a0001c0009t0002g0113 a0001c0010t0075g0107 a0001c0010t0076g0125 a0001c0011t0037g0065 a0001c0011t0073g0119 a0001c0013t0036g0008 a0001c0015t0008g0112 a0001c0016t0038g0037 a0001c0017t0074g0105 a0001c0018t0002g0130 a0001c0022t0055g0081 a0001c0023t0018g0110 a0002c0014t0057g0087 a0003c0020t0071g0108 a0004c0019t0059g0089 a0005c0012t0029g0055	127	134	0.9478	-314	c.-78 others(19): Show c.-78+25794_-78+26107del	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	2/22			chr5	TogoVar
SOAT1_chr1_179288797_179363680	179290147	GCCATGTT others(307): Show GCCATGTTGGCCAGGCTGGTCTCGAACTCATGGCCTCAAGTGATCTGCCC ACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTAAAGA ATTTTTTTTAACATCTTTTTCTTTTTTTCTTTTTGAGAGGGAGTCTTGCT CTGTTGCCCAGGATGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCT CTGCCTCCCAGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTA GGATTATAGGCGCCTGCCACCACACCCGGCTAATTTTTTGTATTTTTAGT AGAGACAGGTTTTCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0043 a0001c0002t0043	a0001c0002t0043g0150 a0001c0002t0043g0150	1	382	0.0026	-314	c.-37 others(11): Show c.-3797_-3484del	SOAT1	ENSG00000057252.13	transcript	ENST00000367619.8	protein_coding		3649		chr1	TogoVar
SORCS2_chr4_7187538_7747827	7481949	ACTGCGGA others(307): Show ACTGCGGACACCCCTGACGCTGTTCAGACCTGTATCCCCACTGCGGACAC CCCTGGCTGCTGTTCAGACCTGTATCCCCACTGCGGACACCCCTGACGCC GTTCAGACCTGTATCCCCACCGTGGACACCCCTGGCTACTGTTCAGACCT GTATCCCCACTGCGGACACCCCTGACGCTGTTCAGACCTGTATCCCCGCT GCGGACACCCCTGACGCTGTTCAGACCTGTATCCCCACTGCGGACACCCC TGACGCTGTTCAGACCTGTATCCCCGCTGCGGACACCCCTGACGCTGTTC AGACCTGTATCCCCG	A A	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01069.hp1 HG01071.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0158 a0001c0002t0006g0159 a0001c0002t0006g0158 a0001c0002t0006g0159	2	168	0.0119	-314	c.549 others(19): Show c.549-49561_549-49248del	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPTSSA_chr14_34427788_34467240	34443198	GGTGTGTG others(307): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTGAGATG GAGTTTTCCTCTCATTACCCAGCTGGAGTGCAATGGCACAGTCTTAGCTC ACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCTTCTAGGGGA GGGTGTGAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTT TGAGATGGAGTTTTCCTCTCATTACCCAGCTGGAGTGCAATGGCACAGTC TTAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCTTC TAGGGGAGGGTGTGT	G G	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	344	0.0029	-314	c.113 others(17): Show c.113-8208_113-7895del	SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding	1/1			chr14	TogoVar
TGS1_chr8_55768446_55831445	55801449	TTTTTTAG others(307): Show TTTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGATCTTGAAC TCCTGACCTCAGTGATCCACCTGCCTCAGGCTCCCAAAGTGCTGGGATTA TAGGCATGAACCACTGCGCCCAGCCCCATCGTTCTTTTTTTTTTTTTTTT TTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGG TGCAATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTT CTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCTACCACCACGCC TAGCTGATTTTTGCA	T T	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp1 HG03491.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	2	370	0.0054	-314	c.185 others(17): Show c.1850-990_1850-677del	TGS1	ENSG00000137574.11	transcript	ENST00000260129.6	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
THOP1_chr19_2780503_2820807	2818108	TCAGAGCA others(307): Show TCAGAGCAGGTGACAAGGGTGACTAAGGTCAGAGCAGGTGACCAAGGATA ACTAAGGTCAGAGCAGGTGACCAAGGATGACTAAGGTCAGAGCAGGTGAC AAGGGTGACTAAGAACAGAGCAGGTGACCAAGGATAACTAAGGTCAGAGC AGGTGACAAGGGTGACTAAGAACAGAGCAGGTGACCAAGGATGACTAAGG TCAGAGCAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGACAAGGGTG ACTAAGAACAGAGCAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGAC AAGGGTGACTAAGAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0214 a0001c0001t0002g0214	1	370	0.0027	-314	c.48 others(11): Show c.4833_*5146del	THOP1	ENSG00000172009.15	transcript	ENST00000307741.11	protein_coding		2302		chr19	TogoVar
TMEM132D_chr12_129066726_129909025	129899115	AGATGGAT others(307): Show AGATGGATGGAATGATGAATGGATGGATGAAATGATAGATGGATAGATGG AAGGATGGGTGGATAGAAGGATGGAATGATGAATGAATGGATGGATGGGC AGACAGACAGATGGAAGGATGGATGGATGGATGGATGCACGGATGGATGG ATGGATGGATGGATGCATGGATGGATGGATGGATGCATGCATGGATGGAT GGATGGATGGATGGATGGATGGATGGATGATGGATGGAGGGATGGATGGA TGGATGGACTGGTAGATGGATGGGTGGATAATGGATGGATGCATGGATGG ATGGATGGATGGATG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02280.hp2 HG02451.hp1 others(6): Show HG02109.hp1 HG02280.hp2 HG02451.hp1 HG02647.hp2 HG02818.hp1 HG03041.hp1 HG03041.hp2 HG03540.hp1 HG03831.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0002t0001 a0001c0002t0004 a0002c0003t0026	a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 others(6): Show a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0003g0085 a0001c0001t0007g0014 a0001c0002t0001g0010 a0001c0002t0004g0009 a0001c0002t0004g0011 a0002c0003t0026g0093	9	94	0.0957	-314	c.79+ others(15): Show c.79+3832_79+4145del	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8			chr12	TogoVar
TRPM4_chr19_49152792_49216836	49156585	CCCTCTCT others(307): Show CCCTCTCTCTGTGGATCTCTGTCCCCCTCTCTCTGGGTCTCTGTTCCCCT CTCTCTGTGGGTCTCTGTCCCCCTCTCTCTCTGGGTCTCTGTTCCCCTCT CTCTGGGTCTCTGTCCCCCTCTCTCAGGGTCTCTGTCCCCCTCTGTCTCA GAGTCTCTGTCCCCCTCTCTCTGGGTCTCTGTCCCCTCTCCCTGGGTCTC TGTACCCCTCTCCGTGGGTCTCTGTCCCCTCTCCCTGGGTCTCTGTCCCC CCATCCCTGGGTCTCTGTCCCCCCCTCTCTGGGTCTCTGTCCCCCTCTCT CTGGGTCTCTGTCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp1 HG02647.hp2 HG03041.hp1 others(1): Show HG01516.hp1 HG02647.hp2 HG03041.hp1 HG03486.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0004c0006t0001 a0001c0001t0001 a0004c0006t0001	a0001c0001t0001g0036 a0001c0001t0001g0037 a0004c0006t0001g0040 others(1): Show a0001c0001t0001g0036 a0001c0001t0001g0037 a0004c0006t0001g0040 a0004c0006t0001g0041	4	312	0.0128	-314	c.-12 others(10): Show c.-1281_-968del	TRPM4	ENSG00000130529.16	transcript	ENST00000252826.10	protein_coding		1206		chr19	TogoVar
ZFAND2A_chr7_1147907_1165196	1156310	AGGCTAAA others(307): Show AGGCTAAAAACCTGAGCTGGGGGCTCCGAAGGGGTGGACCGCCCAGCAGC TGAAGGCCCAGCAAGGCTAAAAACCTGAGCTGGGGGCTCCGAAGGGGTGG ACCGCCCAGCAGCTGAAGGCCCAGCAAGGCTAAAAACCTGAGCTGGGGGC TCCGAAGGGGTGGACCGCCCAGCAGCTGAAGGCCCAGCAAGGCTAAAAAC CTGAGCTGGGGGCTCCGAAGGGGTGGACCGCCCAGCAGCTGAAGGCCCAG CAAGGCTAAAAACCTGAGCTGGGGGCTCCGAAGGGGTGGACCGCCCAGCA GCTAACGCCCAGCAT	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0070 a0001c0001t0002g0070	1	432	0.0023	-314	c.150 others(16): Show c.150+1032_151-727del	ZFAND2A	ENSG00000178381.12	transcript	ENST00000316495.8	protein_coding	3/4			chr7	TogoVar
ZNF425_chr7_149097784_149131324	149121080	TTTTTTTT others(307): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0007 a0002c0004t0007	a0002c0004t0007g0041 a0002c0004t0007g0041	1	320	0.0031	-314	c.19- others(15): Show c.19-3046_19-2733del	ZNF425	ENSG00000204947.9	transcript	ENST00000378061.7	protein_coding	1/3			chr7	TogoVar
ZNF554_chr19_2814868_2841735	2818108	TCAGAGCA others(307): Show TCAGAGCAGGTGACAAGGGTGACTAAGGTCAGAGCAGGTGACCAAGGATA ACTAAGGTCAGAGCAGGTGACCAAGGATGACTAAGGTCAGAGCAGGTGAC AAGGGTGACTAAGAACAGAGCAGGTGACCAAGGATAACTAAGGTCAGAGC AGGTGACAAGGGTGACTAAGAACAGAGCAGGTGACCAAGGATGACTAAGG TCAGAGCAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGACAAGGGTG ACTAAGAACAGAGCAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGAC AAGGGTGACTAAGAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0008 a0001c0006t0008	a0001c0006t0008g0312 a0001c0006t0008g0312	1	410	0.0024	-314	c.-19 others(11): Show c.-1963_-1650del	ZNF554	ENSG00000172006.12	transcript	ENST00000317243.10	protein_coding		1759		chr19	TogoVar
ZNF556_chr19_2862335_2888445	2872778	CACTGCAC others(307): Show CACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAA AAAAAAAAAGAAATATACTAAAAGGCCGGGTGTGGTGGCTCACGCCTGTA ATCCCAGCATTTTGGGAGGCCAAGACAGCTGGATTACTTGAGGTCAGGAG TTCAAGTGCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATA TAAAAATTATCCAGGCATGTTGGTGTGCATCTGTAATCCCAGCTACTTGG GAGACTGAGGCAGGACAATCGCTTGAACCCAGGAGGCGCAGCTTGCAGTG AGCCGAGATCGCCCT	C C	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0187 a0001c0001t0008g0187	1	448	0.0022	-314	c.4-7 others(11): Show c.4-705_4-392del	ZNF556	ENSG00000172000.7	transcript	ENST00000307635.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
APOA1_chr11_116830751_116842622	116841749	TAGAAGGC others(306): Show TAGAAGGCCCTTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTC GTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG00597.hp1 others(97): Show HG00280.hp1 HG00438.hp1 HG00597.hp1 HG00738.hp1 HG01074.hp1 HG01099.hp2 HG01109.hp1 HG01123.hp2 HG01243.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01516.hp2 HG01517.hp1 HG02027.hp1 HG02109.hp2 HG02135.hp1 HG02145.hp1 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03579.hp1 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18944.hp2 NA18945.hp2 NA18947.hp1 NA18949.hp2 NA18951.hp1 NA18952.hp2 NA18956.hp1 NA18960.hp1 NA18966.hp2 NA18967.hp2 NA18969.hp1 NA18970.hp2 NA18974.hp1 NA18979.hp2 NA18998.hp1 NA19000.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19059.hp1 NA19062.hp1 NA19062.hp2 NA19090.hp1 NA19240.hp2 NA20905.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0014 a0002c0002t0001g0006	100	448	0.2232	-313	c.-44 others(11): Show c.-4478_-4166del	APOA1	ENSG00000118137.10	transcript	ENST00000236850.5	protein_coding		4128		chr11	TogoVar
ATP11A_chr13_112685038_112892168	112804040	CTTCCCTC others(306): Show CTTCCCTCCTTTTCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCT CTCTGCCCTCCTTCCCCTCCTTTTCCTCCTTCACCTCCCTCCCCCCATCC CCTCTCTGCCCTCCTTCCCTCCTTCACCTCCCTCCCTGCCATCCCCTCTC TGCCCTCCTTCCCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTC TCTGCCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCC TCCTTCCCCTCCTTTTCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCC CCTCTCTGCCCTCG	C C	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	254	0.0039	-313	c.163 others(15): Show c.163-911_163-599del	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8B3_chr19_1777075_1817276	1787685	CACTATTG others(306): Show CACTATTGCACTCCAGCCTGGGCAACAAGTGTGAAACTCTGTCTAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAACGCTGGGTGCGATTGCTCATGCC TGTAATCCCAGCACTTTGGGAGGCTGAGATGGGCAGATCACGAGGTCAGG AGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCTGTCTCTACTAAAAA TATAAAAATTAGCCAGGCATGGTGGCAGGTGTCTGTAATCTCAGCCACTA GAGGGGCTGAGGCAGGAGGATCACTTGAACCCGGGAGGCAGAGGTTGCAG TGAGCCAAGATCAT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0000 a0000	a0000c0020 a0000c0020	a0000c0020t0007 a0000c0020t0007	a0000c0020t0007g0008 a0000c0020t0007g0008	1	390	0.0026	-313	c.307 others(17): Show c.3070-812_3070-500del	ATP8B3	ENSG00000130270.16	transcript	ENST00000310127.10	protein_coding	24/28			chr19	TogoVar
CABIN1_chr22_24006304_24183628	24134954	ATAATCCC others(306): Show ATAATCCCAGCTACTCAGGAAGCTGAGGCAGGAGAATTGCTTGAGCCCGG GAGGTGGAGGTTGCGGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGG GGGACCAGAGCAAGACTCTGTCTCAAACAAACAAACAAACAAAAAAACAA ATGTGGCTTAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAG GCCAAGGCGGGCAGATCATCTGAGGTCAGGAGTTCAAGACCAGCCTGGCC AACATGGTGAAACCCTGTCTCTACTAAAATACAAAAATTAGCTGGGCATG GTGGCAGGCACCTG	A A	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	268	0.0037	-313	c.474 others(17): Show c.4746+583_4746+895del	CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding	29/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CADM2_chr3_84953989_86079429	85768879	CATATATA others(306): Show CATATATACATATATAGTATATATACACATATATACATATATAGTATATA TACACATATATACATATATAGTATATATACACATATATACATATATAGTA TATATACACATATATACATATATAGTATATATACACATATATACATATAT AGTATATATACACATATATACATATATAGTATATATACACATATATACAT ATATAGTATATATACACATATATACATATATGTATATATACACATATATA CATATATAGTATATATACACATATATACATATATAGTATATATACACATA TATACATATATAGT	C C	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0119 a0001c0001t0002g0119	1	146	0.0069	-313	c.89- others(17): Show c.89-33158_89-32846del	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CAP2_chr6_17388595_17562780	17472038	TAATAGTG others(306): Show TAATAGTGCTGAATGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp1 HG00597.hp2 others(123): Show HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00735.hp2 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp2 HG01361.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG02027.hp1 HG02055.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02280.hp2 HG02293.hp2 HG02486.hp1 HG02486.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03491.hp1 HG03491.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18945.hp1 NA18954.hp1 NA18962.hp1 NA18972.hp1 NA18973.hp2 NA18982.hp2 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19006.hp1 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19068.hp1 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0002 a0001c0003 others(13): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0008 a0001c0009 a0001c0011 a0001c0013 a0001c0014 a0002c0004 a0002c0005 a0002c0012 a0003c0007 a0004c0010 a0005c0015 a0006c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0003t0001 a0001c0003t0002 a0001c0006t0001 a0001c0008t0001 a0001c0009t0001 a0001c0011t0002 a0001c0013t0001 a0001c0014t0008 a0002c0004t0001 a0002c0004t0002 a0002c0005t0001 a0002c0005t0003 a0002c0012t0001 a0003c0007t0001 a0004c0010t0001 a0004c0010t0002 a0005c0015t0001 a0006c0016t0001	a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0053 others(123): Show a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0165 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0202 a0001c0001t0002g0030 a0001c0001t0002g0037 a0001c0001t0002g0045 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0055 a0001c0001t0002g0096 a0001c0001t0002g0105 a0001c0001t0002g0121 a0001c0001t0002g0126 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0150 a0001c0001t0002g0152 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0169 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0181 a0001c0001t0002g0199 a0001c0001t0002g0206 a0001c0001t0005g0200 a0001c0001t0007g0201 a0001c0002t0001g0005 a0001c0002t0001g0019 a0001c0002t0001g0056 a0001c0002t0001g0062 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0098 a0001c0002t0001g0100 a0001c0002t0001g0109 a0001c0002t0001g0130 a0001c0002t0001g0132 a0001c0002t0001g0134 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0153 a0001c0002t0001g0161 a0001c0002t0001g0164 a0001c0002t0001g0166 a0001c0002t0001g0173 a0001c0002t0001g0193 a0001c0002t0001g0197 a0001c0002t0002g0073 a0001c0002t0002g0118 a0001c0002t0002g0135 a0001c0002t0002g0167 a0001c0002t0006g0133 a0001c0003t0001g0065 a0001c0003t0001g0082 a0001c0003t0001g0084 a0001c0003t0001g0088 a0001c0003t0001g0091 a0001c0003t0002g0047 a0001c0003t0002g0060 a0001c0003t0002g0064 a0001c0003t0002g0080 a0001c0003t0002g0087 a0001c0003t0002g0131 a0001c0006t0001g0120 a0001c0006t0001g0149 a0001c0006t0001g0155 a0001c0008t0001g0051 a0001c0009t0001g0012 a0001c0009t0001g0014 a0001c0011t0002g0081 a0001c0013t0001g0092 a0001c0014t0008g0015 a0002c0004t0001g0089 a0002c0004t0002g0077 a0002c0004t0002g0079 a0002c0004t0002g0097 a0002c0004t0002g0156 a0002c0004t0002g0182 a0002c0005t0001g0003 a0002c0005t0001g0104 a0002c0005t0001g0203 a0002c0005t0003g0170 a0002c0012t0001g0013 a0003c0007t0001g0059 a0003c0007t0001g0066 a0003c0007t0001g0110 a0003c0007t0001g0119 a0003c0007t0001g0205 a0004c0010t0001g0063 a0004c0010t0002g0061 a0005c0015t0001g0070 a0006c0016t0001g0194	126	206	0.6117	-313	c.300 others(17): Show c.300+8982_300+9294del	CAP2	ENSG00000112186.13	transcript	ENST00000229922.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
CCDC6_chr10_59783747_59911556	59882093	CGGGGGGA others(306): Show CGGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGCG GGGAGAAGGAAAGGAAAGCCGGCGGGATGAAGGAATATGAAATGCCGGGG GGAGAAGGAAAGGTAAAGCCGCGGGGAGTAAGGAAAGGAAAGTCCGGGGT AGTAAGGAAAGGTAAAGCCGGGGGGATGAATGGAAAGGTAATGCTCGGCG GGAGAATGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGA GAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAG GAAAGGAAAGCCAG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG06807.hp2 HG00280.hp1 HG06807.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0171 a0002c0004t0001g0172 a0002c0004t0001g0171 a0002c0004t0001g0172	2	288	0.0069	-313	c.303 others(19): Show c.303+23716_303+24028del	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CDH4_chr20_61247261_61945617	61783800	TTGTGCCC others(306): Show TTGTGCCCCCAAGAGAAATGTAATCCCAGTTCCTCGGGACAGTTCTCAAG GCCCTCAGATGTCCTGTGCCCCCAAGAGAAATGTAATCCCAGTTCCTTGG GACAGTTCTCAAGGCCCTCCGATATCCTGTGCCCCCAGGAGAATGTAAGC CCAGTTCCTCGGGACAGTTCTCGAGGCCCTCAGGTGTCTTGTGCCCCCAG GAGAATGTAAGCCCAGTTCCTTGGGACAGTTCTCGAGGCCCTCAGGTGTC TTGTGCCCCCAAGAGAAATGTAATCCCAGTTCCTCGGGACAGTTCTCAAG GCCCTCAGATGTCC	T T	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0006 a0001c0020t0006	a0001c0020t0006g0094 a0001c0020t0006g0094	1	106	0.0094	-313	c.576 others(19): Show c.576+10652_576+10964del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61784377	GAATGTAA others(306): Show GAATGTAATCCCAGTTCCTCGGGACAGTTCTCGAGGCCCTCAGATGTCCT GTGCCCCCAAGAGAAATGTAATCCCAGTTCCTCGGGACAGTTCTCAAGGC CCTCCGATATCCTGTGCCCCCAGGAGAATGTAAGCCCAGTTCCTCGGGAC AGTTCTCGAGGCCCTCAGGTGTCTTGTGCCCCCAAGAGAAATGTAATCCC AGTTCCTCGGGACAGTTCTCCAGGCCCTCCGATATCCTGTGCCCCCAGGA GAATGTAAGCCCAGTTCCTCGGGACAGTTCTCGAGGCCCTCAGATGTCCT GTGCCCCCAAGAGA	G G	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02257.hp2 HG02559.hp2 others(3): Show HG01123.hp1 HG02257.hp2 HG02559.hp2 HG03225.hp1 HG03516.hp2 HG03540.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0002c0004	a0001c0001t0002 a0001c0001t0018 a0001c0003t0005 others(2): Show a0001c0001t0002 a0001c0001t0018 a0001c0003t0005 a0002c0002t0041 a0002c0004t0003	a0001c0001t0002g0088 a0001c0001t0018g0031 a0001c0003t0005g0054 others(3): Show a0001c0001t0002g0088 a0001c0001t0018g0031 a0001c0003t0005g0054 a0002c0002t0041g0087 a0002c0004t0003g0010 a0002c0004t0003g0093	6	106	0.0566	-313	c.576 others(19): Show c.576+11227_576+11539del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CHD2_chr15_92895324_93032996	92972557	TAAGATTC others(306): Show TAAGATTCCAGGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCAAGACCATC CCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCC CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(250): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02809.hp1 HG02886.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19043.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(10): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0007 a0001c0009 a0001c0010 a0001c0011 a0001c0014 a0001c0016 a0001c0017 a0001c0018 a0001c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(38): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0008 a0001c0002t0009 a0001c0002t0011 a0001c0002t0016 a0001c0004t0004 a0001c0004t0007 a0001c0004t0010 a0001c0004t0017 a0001c0004t0018 a0001c0005t0004 a0001c0005t0007 a0001c0005t0015 a0001c0007t0007 a0001c0009t0002 a0001c0009t0012 a0001c0010t0002 a0001c0011t0001 a0001c0014t0005 a0001c0016t0002 a0001c0017t0009 a0001c0018t0009 a0001c0019t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(246): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0016 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0132 a0001c0001t0001g0141 a0001c0001t0001g0155 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0259 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0281 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0002g0008 a0001c0001t0002g0085 a0001c0001t0002g0278 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0003g0001 a0001c0001t0003g0274 a0001c0001t0005g0179 a0001c0001t0006g0080 a0001c0001t0006g0084 a0001c0001t0006g0248 a0001c0001t0006g0260 a0001c0001t0006g0261 a0001c0001t0006g0262 a0001c0001t0006g0263 a0001c0001t0006g0264 a0001c0001t0006g0265 a0001c0001t0006g0266 a0001c0001t0006g0267 a0001c0001t0006g0268 a0001c0001t0006g0269 a0001c0001t0006g0270 a0001c0001t0007g0174 a0001c0001t0008g0040 a0001c0001t0008g0217 a0001c0001t0008g0218 a0001c0001t0008g0219 a0001c0001t0009g0009 a0001c0001t0009g0010 a0001c0001t0009g0011 a0001c0001t0009g0296 a0001c0001t0011g0176 a0001c0001t0011g0282 a0001c0001t0011g0292 a0001c0001t0020g0113 a0001c0001t0021g0074 a0001c0001t0022g0097 a0001c0001t0023g0052 a0001c0001t0024g0077 a0001c0001t0025g0104 a0001c0002t0001g0091 a0001c0002t0001g0233 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0238 a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0244 a0001c0002t0001g0246 a0001c0002t0001g0247 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0252 a0001c0002t0001g0253 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0258 a0001c0002t0001g0286 a0001c0002t0002g0045 a0001c0002t0002g0046 a0001c0002t0002g0156 a0001c0002t0002g0181 a0001c0002t0002g0223 a0001c0002t0002g0231 a0001c0002t0002g0232 a0001c0002t0002g0275 a0001c0002t0003g0228 a0001c0002t0005g0220 a0001c0002t0005g0224 a0001c0002t0005g0225 a0001c0002t0005g0227 a0001c0002t0005g0229 a0001c0002t0005g0230 a0001c0002t0005g0277 a0001c0002t0005g0279 a0001c0002t0008g0012 a0001c0002t0008g0015 a0001c0002t0009g0022 a0001c0002t0009g0243 a0001c0002t0011g0256 a0001c0002t0011g0257 a0001c0002t0016g0280 a0001c0004t0004g0092 a0001c0004t0004g0284 a0001c0004t0004g0285 a0001c0004t0004g0297 a0001c0004t0007g0013 a0001c0004t0007g0014 a0001c0004t0007g0017 a0001c0004t0007g0018 a0001c0004t0007g0020 a0001c0004t0007g0021 a0001c0004t0010g0105 a0001c0004t0010g0106 a0001c0004t0010g0107 a0001c0004t0010g0108 a0001c0004t0010g0109 a0001c0004t0010g0245 a0001c0004t0017g0019 a0001c0004t0018g0025 a0001c0005t0004g0153 a0001c0005t0004g0154 a0001c0005t0004g0159 a0001c0005t0004g0180 a0001c0005t0004g0276 a0001c0005t0004g0283 a0001c0005t0004g0287 a0001c0005t0004g0289 a0001c0005t0004g0291 a0001c0005t0007g0050 a0001c0005t0007g0090 a0001c0005t0015g0073 a0001c0007t0007g0030 a0001c0009t0002g0043 a0001c0009t0002g0048 a0001c0009t0012g0044 a0001c0010t0002g0182 a0001c0010t0002g0222 a0001c0011t0001g0023 a0001c0011t0001g0024 a0001c0014t0005g0226 a0001c0016t0002g0047 a0001c0017t0009g0037 a0001c0018t0009g0039 a0001c0019t0001g0119	253	306	0.8268	-313	c.250 others(17): Show c.2505+152_2505+464del	CHD2	ENSG00000173575.24	transcript	ENST00000394196.9	protein_coding	19/38		INFO_REALIGN_3_PRIME	chr15	TogoVar
CLIC4_chr1_24740447_24849321	24799924	GTCAGCCC others(306): Show GTCAGCCCCCCCACCTGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGC TGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCGTCCGGGGGGGGGGGT CAGCCCCCCCACCT	G G	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01516.hp2 HG03486.hp2 HG01074.hp1 HG01516.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0152 a0001c0001t0002g0154 a0001c0001t0010g0090 a0001c0001t0002g0152 a0001c0001t0002g0154 a0001c0001t0010g0090	3	344	0.0087	-313	c.182 others(17): Show c.182+2074_182+2386del	CLIC4	ENSG00000169504.15	transcript	ENST00000374379.9	protein_coding	2/5			chr1	TogoVar
CNTNAP2_chr7_146111801_148425998	147657960	TAAGATAG others(306): Show TAAGATAGCCGACCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCAAAAATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTGGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGAGACAGAGCGAGACTCCGTCCCAAA AAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02897.hp1 HG00735.hp1 HG02897.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0001 a0001c0006t0014 a0001c0002t0001 a0001c0006t0014	a0001c0002t0001g0008 a0001c0006t0014g0033 a0001c0002t0001g0008 a0001c0006t0014g0033	2	40	0.0500	-313	c.209 others(21): Show c.2098+18669_2098+18981del	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
COG4_chr16_70475571_70528554	70503580	TAACTCCT others(306): Show TAACTCCTACTTACTCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTC TGTCGCCCAGGCTGGAGTGCAGTGGCGCTATCCCGGCTCACTGCAAGCTC CGCCTCTTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GACTACAGGCGCCCACCACCACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01891.hp1 HG02109.hp1 others(26): Show HG01243.hp2 HG01891.hp1 HG02109.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02572.hp1 HG02615.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02922.hp2 HG02970.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03471.hp1 HG03486.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG06807.hp2 NA18906.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0001 a0001c0002t0002 a0001c0003t0001	a0001c0002t0002g0001 a0001c0002t0002g0006 a0001c0002t0002g0007 others(25): Show a0001c0002t0002g0001 a0001c0002t0002g0006 a0001c0002t0002g0007 a0001c0002t0002g0008 a0001c0002t0002g0009 a0001c0002t0002g0010 a0001c0002t0002g0011 a0001c0002t0002g0012 a0001c0002t0002g0013 a0001c0002t0002g0020 a0001c0002t0002g0024 a0001c0002t0002g0025 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0003t0001g0014 a0001c0003t0001g0015 a0001c0003t0001g0016 a0001c0003t0001g0017 a0001c0003t0001g0018 a0001c0003t0001g0019 a0001c0003t0001g0021 a0001c0003t0001g0022 a0001c0003t0001g0023 a0001c0003t0001g0032	29	354	0.0819	-313	c.106 others(19): Show c.1062-2802_1062-2490del	COG4	ENSG00000103051.21	transcript	ENST00000323786.10	protein_coding	8/18			chr16	TogoVar
CRMP1_chr4_5815764_5898086	5833152	TCCAGAAC others(306): Show TCCAGAACTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGTGGGATCTCGGCTCACCGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACAGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00323.hp2 others(73): Show HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00609.hp2 HG00642.hp2 HG00738.hp1 HG01069.hp2 HG01099.hp1 HG01167.hp2 HG01169.hp1 HG01243.hp1 HG01243.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01952.hp2 HG02004.hp1 HG02055.hp1 HG02055.hp2 HG02145.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02622.hp2 HG02647.hp1 HG02723.hp1 HG02809.hp1 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03516.hp2 HG03704.hp2 HG04115.hp2 NA18522.hp2 NA18906.hp1 NA18969.hp2 NA18971.hp2 NA18980.hp1 NA18993.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19068.hp1 NA19068.hp2 NA19074.hp2 NA19077.hp2 NA19084.hp2 NA19088.hp2 NA19089.hp2 NA19240.hp2 NA20129.hp2 NA20805.hp2 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0002 a0001c0003 a0001c0008 others(14): Show a0001c0002 a0001c0003 a0001c0008 a0001c0014 a0001c0021 a0001c0030 a0002c0004 a0002c0007 a0002c0011 a0002c0016 a0002c0023 a0003c0018 a0003c0024 a0003c0025 a0003c0026 a0003c0027 a0004c0013	a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 others(20): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0001c0002t0009 a0001c0003t0001 a0001c0003t0003 a0001c0008t0003 a0001c0014t0001 a0001c0021t0003 a0001c0030t0001 a0002c0004t0003 a0002c0007t0003 a0002c0011t0001 a0002c0011t0003 a0002c0016t0004 a0002c0023t0003 a0003c0018t0004 a0003c0024t0004 a0003c0025t0001 a0003c0026t0003 a0003c0027t0003 a0004c0013t0001 a0004c0013t0012	a0001c0002t0001g0077 a0001c0002t0001g0080 a0001c0002t0001g0104 others(73): Show a0001c0002t0001g0077 a0001c0002t0001g0080 a0001c0002t0001g0104 a0001c0002t0001g0110 a0001c0002t0001g0118 a0001c0002t0001g0130 a0001c0002t0001g0133 a0001c0002t0001g0135 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0160 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0249 a0001c0002t0001g0252 a0001c0002t0001g0253 a0001c0002t0001g0257 a0001c0002t0001g0258 a0001c0002t0001g0290 a0001c0002t0002g0054 a0001c0002t0002g0093 a0001c0002t0002g0125 a0001c0002t0002g0138 a0001c0002t0002g0172 a0001c0002t0002g0225 a0001c0002t0002g0228 a0001c0002t0002g0260 a0001c0002t0002g0289 a0001c0002t0007g0097 a0001c0002t0007g0288 a0001c0002t0009g0128 a0001c0003t0001g0188 a0001c0003t0001g0251 a0001c0003t0003g0067 a0001c0008t0003g0059 a0001c0008t0003g0061 a0001c0008t0003g0065 a0001c0008t0003g0184 a0001c0008t0003g0267 a0001c0008t0003g0287 a0001c0014t0001g0062 a0001c0014t0001g0063 a0001c0014t0001g0182 a0001c0014t0001g0202 a0001c0014t0001g0261 a0001c0021t0003g0298 a0001c0021t0003g0299 a0001c0030t0001g0297 a0002c0004t0003g0040 a0002c0007t0003g0012 a0002c0007t0003g0021 a0002c0007t0003g0027 a0002c0007t0003g0033 a0002c0007t0003g0034 a0002c0007t0003g0039 a0002c0007t0003g0041 a0002c0011t0001g0005 a0002c0011t0001g0009 a0002c0011t0001g0022 a0002c0011t0001g0023 a0002c0011t0003g0024 a0002c0016t0004g0037 a0002c0016t0004g0038 a0002c0023t0003g0019 a0003c0018t0004g0209 a0003c0024t0004g0207 a0003c0025t0001g0195 a0003c0026t0003g0196 a0003c0027t0003g0206 a0004c0013t0001g0223 a0004c0013t0001g0242 a0004c0013t0001g0255 a0004c0013t0001g0256 a0004c0013t0012g0282	76	314	0.2420	-313	c.162 others(19): Show c.1623+2450_1623+2762del	CRMP1	ENSG00000072832.15	transcript	ENST00000324989.12	protein_coding	11/13			chr4	TogoVar
DDX51_chr12_132131594_132149319	132149006	TACCACAC others(306): Show TACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCC CTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGT GAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGC CGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCGCTCACACCAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01192.hp1 NA19012.hp2 HG01070.hp1 HG01192.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0001 a0001c0001t0007g0007 a0001c0001t0001g0001 a0001c0001t0007g0007	3	334	0.0090	-313	c.-50 others(11): Show c.-5023_-4711del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		4688		chr12	TogoVar
DNASE1L1_chrX_154396236_154414254	154400937	TTGACGGG others(306): Show TTGACGGGGAAGGAACTTCCTCTGGGAACCTTTGGGTCATTGCCCTTTCA CTTCAGAAACAGGTTGACAACTCAGCCCTGCTCATGAGGCAGCAAACCCT GCAAAGGGCTGGGACTGGTGGCCTTATGTCAGTTGTCTACTCTGGAGCTT GACTTGGACCTCCCCAGGTCCTAGGCAGTAGGTTGAAAAACACTGAAGTG CTTTTCATGAAGCACAGCTGCAGCAAAGCCTTGCAATCCCAGGCTGGGGT CAGCCTACAGTTGTGTTGCTTATTACAACACATGCGGACCAAGAGGGGCT TGTGGGCTAGAGGC	T T	splice_region_variant others(1): Show splice_region_variant downstream_gene_variant	LOW	HG01884.hp1 HG02451.hp1 HG01884.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0076 a0001c0001t0015g0095 a0001c0001t0015g0076 a0001c0001t0015g0095	2	279	0.0072	-313	c.14 others(11): Show c.1457_*1769del	DNASE1L1	ENSG00000013563.14	transcript	ENST00000369807.6	protein_coding	8/8	298		chrX	TogoVar
EARS2_chr16_23515754_23562350	23517214	GCCCAGCT others(306): Show GCCCAGCTAATTTTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCTGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(198): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp2 HG03669.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18948.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18966.hp1 NA18968.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18975.hp2 NA18977.hp2 NA18979.hp1 NA18981.hp1 NA18981.hp2 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18992.hp1 NA18993.hp1 NA18998.hp1 NA18998.hp2 NA19003.hp1 NA19004.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp2 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19057.hp2 NA19060.hp2 NA19062.hp2 NA19067.hp2 NA19068.hp2 NA19074.hp2 NA19077.hp2 NA19081.hp2 NA19083.hp2 NA19084.hp1 NA19085.hp2 NA19088.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(4): Show a0001 a0003 a0004 a0005 a0006 a0007 a0008	a0001c0001 a0001c0003 a0001c0007 others(7): Show a0001c0001 a0001c0003 a0001c0007 a0001c0008 a0003c0004 a0004c0006 a0005c0005 a0006c0010 a0007c0009 a0008c0012	a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 others(28): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0003t0003 a0001c0003t0007 a0001c0003t0008 a0001c0003t0010 a0001c0003t0014 a0001c0003t0019 a0001c0003t0021 a0001c0003t0024 a0001c0003t0025 a0001c0007t0020 a0001c0007t0022 a0001c0008t0001 a0003c0004t0001 a0003c0004t0027 a0004c0006t0003 a0005c0005t0003 a0005c0005t0023 a0006c0010t0001 a0007c0009t0001 a0008c0012t0007	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(161): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0176 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0004g0019 a0001c0001t0004g0105 a0001c0001t0004g0144 a0001c0001t0004g0159 a0001c0001t0004g0160 a0001c0001t0004g0231 a0001c0001t0011g0015 a0001c0001t0011g0082 a0001c0001t0012g0074 a0001c0001t0012g0106 a0001c0001t0012g0107 a0001c0001t0013g0115 a0001c0001t0013g0124 a0001c0001t0013g0132 a0001c0001t0015g0017 a0001c0001t0016g0152 a0001c0001t0016g0153 a0001c0001t0018g0131 a0001c0001t0026g0088 a0001c0001t0028g0155 a0001c0001t0029g0130 a0001c0003t0003g0011 a0001c0003t0003g0012 a0001c0003t0003g0013 a0001c0003t0003g0033 a0001c0003t0003g0034 a0001c0003t0003g0035 a0001c0003t0003g0037 a0001c0003t0003g0038 a0001c0003t0003g0040 a0001c0003t0003g0041 a0001c0003t0003g0042 a0001c0003t0003g0045 a0001c0003t0003g0052 a0001c0003t0003g0053 a0001c0003t0003g0054 a0001c0003t0003g0055 a0001c0003t0003g0056 a0001c0003t0003g0057 a0001c0003t0003g0058 a0001c0003t0003g0059 a0001c0003t0003g0060 a0001c0003t0003g0224 a0001c0003t0007g0010 a0001c0003t0007g0039 a0001c0003t0008g0225 a0001c0003t0008g0226 a0001c0003t0008g0227 a0001c0003t0008g0228 a0001c0003t0010g0028 a0001c0003t0010g0029 a0001c0003t0010g0233 a0001c0003t0014g0030 a0001c0003t0014g0031 a0001c0003t0019g0043 a0001c0003t0021g0044 a0001c0003t0024g0036 a0001c0003t0025g0232 a0001c0007t0020g0050 a0001c0007t0022g0051 a0001c0008t0001g0111 a0003c0004t0001g0151 a0003c0004t0027g0141 a0004c0006t0003g0047 a0004c0006t0003g0048 a0005c0005t0003g0046 a0005c0005t0023g0049 a0006c0010t0001g0087 a0007c0009t0001g0071 a0008c0012t0007g0032	201	286	0.7028	-313	c.68 others(11): Show c.6844_*7156del	EARS2	ENSG00000103356.18	transcript	ENST00000449606.7	protein_coding		3539		chr16	TogoVar
FLYWCH2_chr16_2878215_2904365	2886375	TTTTTGTA others(306): Show TTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGTCTAGGCTGAT CTCGAACTCCTGACCTCAGGTGATCCTCCTGCCTCAGCCTCCCTAAGTGC TGGGATTACAGGCATGAGCCACCACGCCCTGCCCCTTTGTCCTTTTTTTT TTTTTTTTTTTTTTTGAGGCGGATTTTGCTCTTGTTGTCCCGGCTGGAGT GCACTGGTGCAATCTCAGCTTACCGCAACCTCCGCCTCCTGGGTTCAAGC AATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCA CCAAGCTTGGCTAA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02257.hp1 HG02258.hp2 others(11): Show HG01884.hp1 HG02257.hp1 HG02258.hp2 HG02615.hp1 HG02647.hp2 HG02717.hp2 HG02895.hp1 HG02897.hp1 HG03098.hp2 HG03139.hp2 HG03209.hp1 HG03453.hp2 HG03579.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0004 a0001c0001t0006g0024 a0001c0001t0006g0051 others(5): Show a0001c0001t0006g0004 a0001c0001t0006g0024 a0001c0001t0006g0051 a0001c0001t0006g0052 a0001c0001t0006g0053 a0001c0001t0006g0054 a0001c0001t0006g0055 a0001c0001t0006g0056	14	390	0.0359	-313	c.-20 others(19): Show c.-200+3039_-200+3351del	FLYWCH2	ENSG00000162076.13	transcript	ENST00000396958.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
FNDC1_chr6_159164400_159277108	159231077	TAAAAATT others(306): Show TAAAAATTACAAATTGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGAC CATCCTGGCTAACAAGGTGAAACCCCATCTCTACTAAAAATACAAAAAAT TAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00408.hp2 others(106): Show HG00140.hp1 HG00280.hp1 HG00408.hp2 HG00438.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01934.hp2 HG01975.hp1 HG01978.hp1 HG01993.hp2 HG02055.hp2 HG02056.hp1 HG02071.hp2 HG02135.hp1 HG02145.hp1 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02683.hp2 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02886.hp2 HG02970.hp1 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18955.hp1 NA18956.hp2 NA18968.hp2 NA18970.hp2 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18994.hp2 NA19011.hp1 NA19012.hp2 NA19062.hp1 NA19063.hp2 NA19064.hp1 NA19066.hp1 NA19076.hp1 NA19079.hp2 NA19080.hp1 NA19084.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp1	a0001 a0003 a0016 others(13): Show a0001 a0003 a0016 a0018 a0025 a0026 a0027 a0032 a0033 a0034 a0035 a0036 a0037 a0038 a0039 a0041	a0001c0005 a0001c0006 a0001c0010 others(21): Show a0001c0005 a0001c0006 a0001c0010 a0001c0055 a0001c0061 a0001c0062 a0003c0004 a0003c0008 a0003c0017 a0003c0018 a0016c0021 a0018c0027 a0025c0039 a0026c0040 a0027c0038 a0032c0056 a0033c0065 a0034c0059 a0035c0060 a0036c0033 a0037c0063 a0038c0064 a0039c0058 a0041c0074	a0001c0005t0001 a0001c0005t0006 a0001c0006t0001 others(24): Show a0001c0005t0001 a0001c0005t0006 a0001c0006t0001 a0001c0010t0003 a0001c0055t0003 a0001c0061t0001 a0001c0062t0001 a0003c0004t0001 a0003c0004t0007 a0003c0008t0001 a0003c0017t0002 a0003c0018t0003 a0003c0018t0004 a0016c0021t0001 a0018c0027t0001 a0025c0039t0002 a0026c0040t0002 a0027c0038t0002 a0032c0056t0001 a0033c0065t0001 a0034c0059t0001 a0035c0060t0001 a0036c0033t0001 a0037c0063t0002 a0038c0064t0001 a0039c0058t0001 a0041c0074t0001	a0001c0005t0001g0019 a0001c0005t0001g0045 a0001c0005t0001g0046 others(105): Show a0001c0005t0001g0019 a0001c0005t0001g0045 a0001c0005t0001g0046 a0001c0005t0001g0052 a0001c0005t0001g0053 a0001c0005t0001g0070 a0001c0005t0001g0071 a0001c0005t0001g0074 a0001c0005t0001g0077 a0001c0005t0001g0080 a0001c0005t0001g0087 a0001c0005t0001g0090 a0001c0005t0001g0093 a0001c0005t0001g0094 a0001c0005t0001g0103 a0001c0005t0001g0108 a0001c0005t0001g0124 a0001c0005t0001g0140 a0001c0005t0001g0143 a0001c0005t0001g0292 a0001c0005t0006g0138 a0001c0006t0001g0002 a0001c0006t0001g0013 a0001c0006t0001g0015 a0001c0006t0001g0043 a0001c0006t0001g0047 a0001c0006t0001g0055 a0001c0006t0001g0068 a0001c0006t0001g0069 a0001c0006t0001g0084 a0001c0006t0001g0088 a0001c0006t0001g0109 a0001c0006t0001g0127 a0001c0006t0001g0142 a0001c0006t0001g0144 a0001c0006t0001g0147 a0001c0006t0001g0148 a0001c0006t0001g0149 a0001c0010t0003g0009 a0001c0010t0003g0017 a0001c0010t0003g0041 a0001c0010t0003g0072 a0001c0010t0003g0129 a0001c0010t0003g0289 a0001c0010t0003g0291 a0001c0055t0003g0060 a0001c0061t0001g0092 a0001c0062t0001g0081 a0003c0004t0001g0155 a0003c0004t0001g0163 a0003c0004t0001g0165 a0003c0004t0001g0174 a0003c0004t0001g0177 a0003c0004t0001g0186 a0003c0004t0001g0193 a0003c0004t0001g0196 a0003c0004t0001g0199 a0003c0004t0001g0212 a0003c0004t0001g0213 a0003c0004t0001g0215 a0003c0004t0001g0226 a0003c0004t0001g0230 a0003c0004t0001g0234 a0003c0004t0001g0244 a0003c0004t0001g0245 a0003c0004t0001g0246 a0003c0004t0001g0247 a0003c0004t0001g0248 a0003c0004t0001g0276 a0003c0004t0001g0280 a0003c0004t0007g0211 a0003c0008t0001g0198 a0003c0008t0001g0202 a0003c0008t0001g0207 a0003c0008t0001g0209 a0003c0008t0001g0229 a0003c0008t0001g0235 a0003c0008t0001g0236 a0003c0008t0001g0237 a0003c0008t0001g0241 a0003c0008t0001g0242 a0003c0008t0001g0262 a0003c0008t0001g0263 a0003c0008t0001g0266 a0003c0008t0001g0288 a0003c0008t0001g0302 a0003c0017t0002g0183 a0003c0017t0002g0184 a0003c0017t0002g0185 a0003c0018t0003g0224 a0003c0018t0003g0225 a0003c0018t0004g0176 a0016c0021t0001g0170 a0016c0021t0001g0171 a0018c0027t0001g0075 a0018c0027t0001g0076 a0025c0039t0002g0208 a0026c0040t0002g0168 a0027c0038t0002g0153 a0032c0056t0001g0125 a0033c0065t0001g0086 a0034c0059t0001g0141 a0035c0060t0001g0126 a0036c0033t0001g0300 a0037c0063t0002g0290 a0038c0064t0001g0038 a0039c0058t0001g0078 a0041c0074t0001g0079	109	306	0.3562	-313	c.137 others(17): Show c.1370-788_1370-476del	FNDC1	ENSG00000164694.17	transcript	ENST00000297267.14	protein_coding	10/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
GRSF1_chr4_70810783_70844890	70835449	AGTATGAT others(306): Show AGTATGATGGATTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCGCC CAGGCTGGAATGCAGTGGCACCATCTCGGCTCACTGCAAGCTCCACCTCC CGGATTCACACCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACA AGCCTGGGTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACTATGTTA GCCAGGATGGTCTCGATCTCCTGAGCTTGTGATCCGCCCGCCTCGGCCTC CCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCCCATACTAT GCAGTCTTAACGTT	A A	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	328	0.0031	-313	c.514 others(15): Show c.514+396_514+708del	GRSF1	ENSG00000132463.15	transcript	ENST00000254799.11	protein_coding	2/9			chr4	TogoVar
HACE1_chr6_104723094_104864919	104774076	TTCTCTTT others(306): Show TTCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01074.hp2 HG01081.hp2 others(49): Show HG00323.hp2 HG01074.hp2 HG01081.hp2 HG01167.hp2 HG01168.hp2 HG01243.hp1 HG01256.hp1 HG01257.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG01952.hp1 HG01993.hp1 HG02109.hp1 HG02109.hp2 HG02280.hp1 HG02451.hp2 HG02559.hp2 HG02622.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG03017.hp1 HG03130.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03942.hp2 HG04115.hp1 NA18942.hp1 NA19030.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0008 a0001c0001t0001 a0001c0002t0001 a0001c0002t0008	a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0002t0001g0083 others(49): Show a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0002t0001g0083 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0119 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0008g0344	52	346	0.1503	-313	c.186 others(19): Show c.1865-2315_1865-2003del	HACE1	ENSG00000085382.12	transcript	ENST00000262903.9	protein_coding	17/23			chr6	TogoVar
HDHD5_chr22_17132520_17164277	17136137	GGGTGGAT others(306): Show GGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGC GAAACCCCGTCTCTACCAAAAATACAAAAATTAGCTAGTCAGGCGTGGTG GCGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCACAAAAATTGC TTGAACCTGGAGGTGGAGGCTGCAGTGAGCCGAGATCATGCCACTGCACT CCAGCTTGGTAAACAAGAGCAAAACTCCCGTCTCAAAAAAAAAAAAAAAA GAAATCAGTTAGGCCGGGAGCAGTGGCTCACGCCTGTAATCCCAGCGCTT TGAGGGGCCAAGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	422	0.0024	-313	c.15 others(11): Show c.1571_*1883del	HDHD5	ENSG00000069998.12	transcript	ENST00000336737.8	protein_coding		1382		chr22	TogoVar
HINT1_chr5_131154027_131170256	131154068	CAAAAGAG others(306): Show CAAAAGAGCCCTGGGCCGGGCGCGGTGGCTCACGCCTGTAGTCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCG CACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01167.hp1 HG01243.hp1 others(27): Show HG01081.hp2 HG01167.hp1 HG01243.hp1 HG01433.hp1 HG01496.hp1 HG01884.hp2 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02559.hp2 HG02615.hp1 HG02630.hp1 HG02647.hp1 HG02723.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02970.hp2 HG03041.hp1 HG03195.hp2 HG03209.hp1 HG03471.hp2 HG03540.hp1 NA18522.hp1 NA18522.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA20129.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0002t0001 a0001c0003t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0001	a0001c0001t0002g0022 a0001c0002t0001g0004 a0001c0002t0001g0007 others(8): Show a0001c0001t0002g0022 a0001c0002t0001g0004 a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0014 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0029 a0001c0002t0001g0031 a0001c0003t0001g0032	30	424	0.0708	-313	c.50 others(11): Show c.5066_*5378del	HINT1	ENSG00000169567.13	transcript	ENST00000304043.10	protein_coding		4958		chr5	TogoVar
LRRC27_chr10_132327193_132386508	132358841	GAGCAGCG others(306): Show GAGCAGCGTAGGGAGGAGCCGAGGTGGTGGAGCAGTGTGGGGAGGAGCCG AGGTGGTGGAGCAGTGTGGGGAGGAGCCGAGGTGGTAGAGCAGTGTGGGG AGGAGCCAAGGTGGTGGAGTGTGGGGAGGAGCCGAGGTGGTGGAGCGTGG GAAGGAGCCGAGGTGGTGGAGCAGCGTGGGGAGGAGCCGAGGTGATGGAG CAGTGTGGGGAGGAGCCGAGGTGGTGGAGCAGCGTGGGGAGGAGCCGAGG TGATGGAGCAGTGTGGGGAGGAGCCGAGGTGGTGGAGCGTGGGAAGGAGC CGAGGTGGTGGAGC	G G	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0032 a0001c0002t0032	a0001c0002t0032g0244 a0001c0002t0032g0244	1	290	0.0035	-313	c.117 others(19): Show c.1171-2612_1171-2300del	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
MACROD2_chr20_13990516_16058197	14548422	TAAAATAC others(306): Show TAAAATACATTATCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTTGTCCCAGCTACTTGGGAGGCTGAG GCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCGTCTCAAAA AAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01168.hp2 HG02257.hp1 others(9): Show HG00738.hp2 HG01168.hp2 HG02257.hp1 HG02257.hp2 HG02559.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 NA18970.hp1 NA18970.hp2 NA19043.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0012 a0002c0002t0001 a0002c0002t0002 a0002c0002t0007 a0002c0002t0008	a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0021 others(9): Show a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0021 a0001c0001t0003g0002 a0001c0001t0004g0008 a0001c0001t0004g0016 a0001c0001t0009g0005 a0001c0001t0012g0020 a0002c0002t0001g0017 a0002c0002t0002g0010 a0002c0002t0007g0013 a0002c0002t0008g0023	12	24	0.5000	-313	c.301 others(19): Show c.301+54929_301+55241del	MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
MARCHF1_chr4_163519718_164389019	163580788	AAGTATTA others(306): Show AAGTATTAAAGTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTC CGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTC ATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCC	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00639.hp2 HG00741.hp2 others(52): Show HG00438.hp1 HG00639.hp2 HG00741.hp2 HG01071.hp2 HG01109.hp1 HG01884.hp1 HG01884.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp2 HG02080.hp1 HG02132.hp2 HG02165.hp2 HG02257.hp1 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02451.hp2 HG02559.hp2 HG02615.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02897.hp1 HG02897.hp2 HG03139.hp2 HG03225.hp1 HG03453.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG04115.hp1 HG04115.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18944.hp2 NA18952.hp1 NA18963.hp1 NA18969.hp1 NA18969.hp2 NA18972.hp1 NA18984.hp1 NA19009.hp1 NA19030.hp1 NA19058.hp1 NA19066.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0008 a0002c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(21): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0025 a0001c0002t0002 a0001c0002t0003 a0001c0002t0015 a0001c0002t0027 a0001c0005t0011 a0001c0005t0016 a0001c0006t0001 a0001c0006t0014 a0001c0008t0012 a0002c0003t0001	a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0019 others(52): Show a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0064 a0001c0001t0001g0076 a0001c0001t0001g0083 a0001c0001t0001g0089 a0001c0001t0004g0052 a0001c0001t0004g0056 a0001c0001t0004g0057 a0001c0001t0004g0068 a0001c0001t0004g0090 a0001c0001t0005g0022 a0001c0001t0005g0029 a0001c0001t0005g0037 a0001c0001t0006g0008 a0001c0001t0006g0059 a0001c0001t0006g0072 a0001c0001t0006g0087 a0001c0001t0006g0098 a0001c0001t0007g0043 a0001c0001t0007g0049 a0001c0001t0008g0084 a0001c0001t0010g0063 a0001c0001t0013g0015 a0001c0001t0013g0018 a0001c0001t0014g0066 a0001c0001t0017g0039 a0001c0001t0018g0079 a0001c0001t0019g0067 a0001c0001t0021g0028 a0001c0001t0025g0101 a0001c0002t0002g0020 a0001c0002t0002g0062 a0001c0002t0002g0080 a0001c0002t0002g0092 a0001c0002t0002g0097 a0001c0002t0003g0004 a0001c0002t0003g0016 a0001c0002t0003g0060 a0001c0002t0003g0082 a0001c0002t0003g0096 a0001c0002t0015g0012 a0001c0002t0015g0050 a0001c0002t0027g0046 a0001c0005t0011g0069 a0001c0005t0016g0048 a0001c0006t0001g0041 a0001c0006t0014g0010 a0001c0008t0012g0026 a0002c0003t0001g0005 a0002c0003t0001g0006	55	102	0.5392	-313	c.119 others(19): Show c.1191+4648_1191+4960del	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	8/9			chr4	TogoVar

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