Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PRKN_chr6_161342417_162732766	162472497	TTGAGACG others(297): Show TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCAGACTGCGGACTGCAGTG GCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCT CCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGC CCGGCTAATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGT TAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTTGGCC TCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCCCAAAC TTTTA	T T	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01361.hp1 HG01884.hp2 others(1): Show HG01192.hp1 HG01361.hp1 HG01884.hp2 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0030 a0001c0001t0002g0007 a0001c0001t0004g0029 others(1): Show a0001c0001t0001g0030 a0001c0001t0002g0007 a0001c0001t0004g0029 a0001c0001t0005g0002	4	32	0.1250	-304	c.8-2 others(15): Show c.8-29328_8-29025del	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	1/11			chr6	TogoVar
PTPN9_chr15_75458251_75584315	75574970	GAAAAGAA others(297): Show GAAAAGAAATATCTTTTTTTTTTTTTTTTTTTGAGACAGAGGAGACGGAG TCTCGCTCTGTCGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCG CCCGCCACGACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGGCGGGGTT TCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCC GCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG GCCGA	G G	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	326	0.0031	-304	c.63+ others(15): Show c.63+3440_63+3743del	PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	1/12			chr15	TogoVar
PYM1_chr12_55896413_55932894	55899937	CTGCACTC others(297): Show CTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAAAAAA AAATTAAATACCTCAGGCTGGGCTCGGTGGCTCACGCCTGTAATCCCACT TTGGGAGGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAG CCTGACCAACATAGTGAAACCCAGTCTCTACTAAATACAAAAAATTAGCC AGGCTTGGTGGTGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGTGGCA GGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGC ACCAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0241 a0001c0001t0002g0241	1	344	0.0029	-304	c.16 others(11): Show c.1631_*1934del	PYM1	ENSG00000170473.17	transcript	ENST00000408946.7	protein_coding		1475		chr12	TogoVar
RBPMS_chr8_30379541_30577256	30534760	TAAAACTG others(297): Show TAAAACTGATAACTACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCA GGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAA AAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAG CTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGC GACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(300): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01123.hp1 HG01123.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18999.hp1 NA18999.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0002c0002t0001 a0002c0002t0002 a0002c0002t0011 a0003c0003t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(300): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0074 a0001c0001t0001g0136 a0001c0001t0001g0142 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0221 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0294 a0001c0001t0002g0039 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0068 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0133 a0001c0001t0002g0280 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0289 a0001c0001t0002g0302 a0001c0001t0003g0015 a0001c0001t0003g0024 a0001c0001t0003g0040 a0001c0001t0003g0056 a0001c0001t0003g0072 a0001c0001t0003g0138 a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0003g0144 a0001c0001t0003g0152 a0001c0001t0003g0155 a0001c0001t0003g0157 a0001c0001t0003g0161 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0003g0195 a0001c0001t0003g0197 a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0003g0207 a0001c0001t0003g0224 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0248 a0001c0001t0003g0251 a0001c0001t0003g0276 a0001c0001t0003g0279 a0001c0001t0003g0292 a0001c0001t0003g0293 a0001c0001t0004g0022 a0001c0001t0004g0058 a0001c0001t0004g0137 a0001c0001t0004g0141 a0001c0001t0004g0182 a0001c0001t0004g0212 a0001c0001t0004g0217 a0001c0001t0004g0219 a0001c0001t0004g0220 a0001c0001t0004g0222 a0001c0001t0004g0223 a0001c0001t0004g0238 a0001c0001t0004g0262 a0001c0001t0004g0271 a0001c0001t0004g0273 a0001c0001t0004g0274 a0001c0001t0005g0062 a0001c0001t0005g0078 a0001c0001t0005g0081 a0001c0001t0005g0082 a0001c0001t0005g0083 a0001c0001t0005g0090 a0001c0001t0005g0093 a0001c0001t0005g0114 a0001c0001t0005g0119 a0001c0001t0005g0288 a0001c0001t0005g0295 a0001c0001t0005g0296 a0001c0001t0005g0301 a0001c0001t0006g0069 a0001c0001t0006g0070 a0001c0001t0006g0281 a0001c0001t0006g0298 a0001c0001t0006g0299 a0001c0001t0006g0300 a0001c0001t0007g0020 a0001c0001t0007g0055 a0001c0001t0007g0159 a0001c0001t0007g0162 a0001c0001t0007g0189 a0001c0001t0007g0198 a0001c0001t0008g0097 a0001c0001t0008g0115 a0001c0001t0008g0120 a0001c0001t0008g0121 a0001c0001t0008g0297 a0001c0001t0009g0199 a0001c0001t0009g0200 a0001c0001t0009g0201 a0001c0001t0009g0205 a0001c0001t0010g0258 a0001c0001t0010g0269 a0001c0001t0010g0270 a0001c0001t0010g0272 a0001c0001t0011g0088 a0001c0001t0011g0135 a0001c0001t0012g0145 a0001c0001t0012g0146 a0001c0001t0012g0179 a0001c0001t0013g0073 a0001c0001t0014g0132 a0001c0001t0015g0131 a0001c0001t0016g0204 a0001c0001t0017g0005 a0001c0001t0018g0003 a0001c0001t0019g0035 a0001c0001t0020g0156 a0001c0001t0021g0059 a0001c0001t0022g0037 a0001c0001t0023g0143 a0001c0001t0024g0010 a0001c0001t0025g0239 a0001c0001t0026g0218 a0001c0001t0027g0089 a0002c0002t0001g0007 a0002c0002t0001g0009 a0002c0002t0001g0184 a0002c0002t0001g0231 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0071 a0002c0002t0002g0134 a0002c0002t0002g0304 a0002c0002t0011g0303 a0003c0003t0002g0124	303	304	0.9967	-304	c.398 others(17): Show c.398-9719_398-9416del	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RPS6KA6_chrX_84053350_84193199	84191659	TATATATA others(297): Show TATATATATATCCATATATATATATCCATATATATATATCCATATATATA TATCCATATATATATATCCATATATATATATCCATATATATATCCATATA TATATATCCATATATATATATCCATATATATATATCCATATATATATATC CATATATATATATCCATATATATATATCCATATATATATATCCATATATA TATATCCATATATATATATCCATATATATATATCCATATATATATATCCA TATATATATATCCATATATATATATCCATATATATATATCCATATATATA TATCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0048 a0002c0002t0048	a0002c0002t0048g0162 a0002c0002t0048g0162	1	272	0.0037	-304	c.-40 others(11): Show c.-4064_-3761del	RPS6KA6	ENSG00000072133.12	transcript	ENST00000262752.5	protein_coding		3461		chrX	TogoVar
RRP12_chr10_97351701_97406340	97398049	TTTTTTTT others(297): Show TTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCCAGGCCGGA CTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGG CGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGG TTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCAC CCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC CGGCC	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02015.hp1 HG02451.hp1 others(15): Show HG00597.hp2 HG02015.hp1 HG02451.hp1 HG02486.hp2 HG02559.hp2 HG02622.hp1 HG02897.hp2 HG03017.hp2 HG03209.hp1 HG03209.hp2 HG03490.hp1 HG04204.hp1 NA18940.hp2 NA18947.hp2 NA18951.hp1 NA18971.hp1 NA18972.hp1 NA18998.hp2	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0006 a0001c0007 a0001c0008 others(2): Show a0001c0006 a0001c0007 a0001c0008 a0003c0002 a0008c0017	a0001c0006t0001 a0001c0007t0001 a0001c0008t0001 others(2): Show a0001c0006t0001 a0001c0007t0001 a0001c0008t0001 a0003c0002t0001 a0008c0017t0001	a0001c0006t0001g0238 a0001c0006t0001g0239 a0001c0007t0001g0237 others(15): Show a0001c0006t0001g0238 a0001c0006t0001g0239 a0001c0007t0001g0237 a0001c0008t0001g0211 a0001c0008t0001g0212 a0001c0008t0001g0273 a0001c0008t0001g0343 a0003c0002t0001g0213 a0003c0002t0001g0231 a0003c0002t0001g0232 a0003c0002t0001g0233 a0003c0002t0001g0234 a0003c0002t0001g0235 a0003c0002t0001g0236 a0003c0002t0001g0241 a0003c0002t0001g0274 a0003c0002t0001g0312 a0008c0017t0001g0240	18	400	0.0450	-304	c.369 others(17): Show c.369+1952_370-1749del	RRP12	ENSG00000052749.14	transcript	ENST00000370992.9	protein_coding	2/33			chr10	TogoVar
SCNN1D_chr1_1275436_1297025	1289091	TCCCCCGT others(297): Show TCCCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCT GCCCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCC CTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCCC GTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCC	T T	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0021 a0021	a0021c0032 a0021c0032	a0021c0032t0002 a0021c0032t0002	a0021c0032t0002g0039 a0021c0032t0002g0039	1	290	0.0035	-304	c.166 others(18): Show c.1662+1058_1663-873del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SEMA6B_chr19_4537593_4564684	4560231	TTCAAGCG others(297): Show TTCAAGCGATTCTTCTCAGCCTCCCAGGTAGCTGGGACTCCAGGTGCATG CCACCATGCCCGGCTAAATTTTTTTGTATTTTTAGTACACATGGCGTTTC ACCATGTTGGTCAAACTGGTTTTGAACTCCTGACCTCATGCTATCCACCC ACCTCGGCCTCCCAAACTGCTGGGATTACAGGTGTGAGCCACCATGCCCA GCCTCCTTCATTCTTATTATTTTTTTGAGATGGAGTCTCGCTCTGTCACC CAGGCTGGAGTGCAGTGGCATGATCTTGGTTCACAGCAATCTCTGCCTCC CAGGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp1 HG03492.hp1 HG03491.hp1 HG03492.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0025 a0001c0002t0001g0025	2	440	0.0046	-304	c.-10 others(10): Show c.-1038_-735del	SEMA6B	ENSG00000167680.17	transcript	ENST00000586582.6	protein_coding		548		chr19	TogoVar
SH2D4A_chr8_19308693_19401218	19386949	CTTTTTGT others(297): Show CTTTTTGTTGTTCTTTGTAGAGATGGGGTCTTGCCAAGCTGGAAATGCAG GTGTATACCACCACACCCAGCTAATAGTTTTTGTTGTTCTTTGTAGAGAT GGGGTCTTGCCAAGCTGGAAATGCAGGTGTACACCACCACACCCAGCTAA TAGTTTTTGTTGTTCTTTGTAGAGATGGGGTCTTGCCAAGCTGGAAATGC AGGTGTACACCACCACACCCAGCTAATAGTTTTTGTTGTTCTTTGTAGAG ATGGGGTCTTGCCAAGCTGGAAATGCAGGTGTACACCACCACACCCAGCT AATAG	C C	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0029 a0002c0005t0029	a0002c0005t0029g0272 a0002c0005t0029g0272	1	354	0.0028	-304	c.104 others(19): Show c.1049-6181_1049-5878del	SH2D4A	ENSG00000104611.12	transcript	ENST00000265807.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr8	TogoVar
SH3BGR_chr21_39446970_39520504	39509937	TTTTGTTA others(297): Show TTTTGTTAACTTTTTTTTTTTTTTGAGACGGAGTCCCGCTGTTTAGCCCA GGCCGGATTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCA GGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGG CGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGG TTTCACCGTGTTAGCCAAGATGGTCTCGATCTCCTGACCTTGTGATCCGC CCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC CAGCC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00735.hp2 HG01168.hp2 others(16): Show HG00642.hp1 HG00735.hp2 HG01168.hp2 HG02055.hp1 HG02109.hp2 HG02145.hp2 HG02615.hp2 HG02630.hp1 HG02717.hp2 HG02809.hp2 HG02922.hp1 HG02976.hp2 HG03130.hp2 HG03195.hp1 HG03540.hp1 HG03688.hp2 HG06807.hp2 NA18522.hp1 NA19043.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0003 a0001c0001t0004 a0003c0003t0003 others(1): Show a0001c0001t0003 a0001c0001t0004 a0003c0003t0003 a0003c0003t0004	a0001c0001t0003g0003 a0001c0001t0003g0022 a0001c0001t0003g0023 others(15): Show a0001c0001t0003g0003 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0099 a0001c0001t0003g0119 a0001c0001t0003g0173 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0003g0233 a0001c0001t0004g0019 a0001c0001t0004g0232 a0001c0001t0004g0245 a0003c0003t0003g0223 a0003c0003t0004g0242 a0003c0003t0004g0243 a0003c0003t0004g0244 a0003c0003t0004g0280 a0003c0003t0004g0281	19	302	0.0629	-304	c.435 others(16): Show c.435+924_435+1227del	SH3BGR	ENSG00000185437.16	transcript	ENST00000333634.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr21	TogoVar
SLC12A7_chr5_1045384_1117063	1072448	CAGCCCCC others(297): Show CAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTT ATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACA CTTATGCAGCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGC CCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGC AGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACTGGCATCACACTTA TGCAGCCCCCAGTGAGCCCCCAGCACACGGTATCACACTTATGCAGCCCC CAGTG	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0002 a0002	a0002c0023 a0002c0023	a0002c0023t0004 a0002c0023t0004	a0002c0023t0004g0010 a0002c0023t0004g0010	1	118	0.0085	-304	c.224 others(18): Show c.2241+881_2241+1184del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLFN14_chr17_35538985_35565819	35561800	GGCAGTGG others(297): Show GGCAGTGGCTCATGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGCAGGC AGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAA ACCCCGTCTCTACTAGAAATACAAAAATTAGCTGGGCATGGTGGTGGACA CCTGTCATCCCAGCTCCTGGGGAGGCTGGGACAGGAGAATTGCTTGAACC TGGGAGGCAAAGGTTGCAGTGAGCCGAGATCATGCCACTGCATTCCAGCC TGGGTGACAAAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAACAGATAC CGGGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00423.hp1 HG00423.hp2 others(61): Show HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00735.hp1 HG01069.hp2 HG01070.hp2 HG01081.hp1 HG01106.hp2 HG01123.hp2 HG01192.hp1 HG01243.hp1 HG01257.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01952.hp2 HG01978.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02257.hp2 HG02647.hp2 HG02809.hp1 HG03225.hp2 HG03471.hp2 HG03491.hp1 HG03492.hp2 HG03654.hp2 HG03704.hp2 HG03710.hp1 HG03942.hp1 NA18940.hp1 NA18943.hp2 NA18944.hp2 NA18948.hp1 NA18953.hp1 NA18955.hp2 NA18956.hp2 NA18975.hp1 NA18983.hp1 NA18986.hp2 NA18992.hp2 NA18994.hp2 NA19000.hp1 NA19002.hp1 NA19004.hp2 NA19007.hp2 NA19010.hp1 NA19012.hp2 NA19030.hp2 NA19066.hp1 NA19077.hp1 NA19079.hp1 NA19080.hp1 NA19081.hp2 NA19084.hp1 NA19086.hp1 NA19089.hp2 NA20129.hp1	a0002 a0012 a0016 others(1): Show a0002 a0012 a0016 a0017	a0002c0002 a0002c0013 a0012c0017 others(2): Show a0002c0002 a0002c0013 a0012c0017 a0016c0023 a0017c0026	a0002c0002t0002 a0002c0002t0028 a0002c0002t0029 others(4): Show a0002c0002t0002 a0002c0002t0028 a0002c0002t0029 a0002c0013t0002 a0012c0017t0002 a0016c0023t0001 a0017c0026t0002	a0002c0002t0002g0002 a0002c0002t0002g0012 a0002c0002t0002g0102 others(15): Show a0002c0002t0002g0002 a0002c0002t0002g0012 a0002c0002t0002g0102 a0002c0002t0002g0103 a0002c0002t0002g0112 a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0002g0117 a0002c0002t0002g0119 a0002c0002t0002g0120 a0002c0002t0002g0122 a0002c0002t0028g0104 a0002c0002t0029g0116 a0002c0013t0002g0028 a0002c0013t0002g0044 a0012c0017t0002g0041 a0016c0023t0001g0118 a0017c0026t0002g0115	64	428	0.1495	-304	c.-14 others(11): Show c.-1461_-1158del	SLFN14	ENSG00000236320.4	transcript	ENST00000674182.1	protein_coding		982		chr17	TogoVar
SPOCK2_chr10_72054034_72093551	72064898	TTTTTTGT others(297): Show TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCCTGTTAGCCAGGATGG TCTTGATCTCCTGACCTCATAATCTGCCCGCCTCAGCCCCGCAAAGTGCT GGGATTACAGGCATGAGCCACCGCGCCCAGCCTTATTTTATTTTTTGAGA TAAATAAAATAAATTTTTGCTCTCGTCGCCCAGGCTGGAGTGCAACGGCA CGATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCT GCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCACCTGCCACCATGCCTG GCTAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00639.hp2 others(79): Show HG00140.hp1 HG00140.hp2 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01074.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02055.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp2 HG02132.hp1 HG02257.hp1 HG02293.hp2 HG02486.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02922.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03139.hp2 HG03195.hp1 HG03239.hp1 HG03453.hp2 HG03490.hp1 HG03579.hp1 HG03688.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp2 NA18612.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp2 NA18963.hp1 NA18967.hp2 NA18968.hp1 NA18973.hp2 NA18977.hp1 NA18978.hp2 NA18989.hp2 NA19003.hp1 NA19004.hp2 NA19007.hp1 NA19056.hp2 NA19082.hp2 NA19088.hp1 NA19240.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0013 a0001c0001 a0001c0002 a0005c0013	a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 others(10): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 a0001c0001t0011 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0031 a0001c0002t0003 a0005c0013t0011	a0001c0001t0003g0002 a0001c0001t0003g0004 a0001c0001t0003g0011 others(53): Show a0001c0001t0003g0002 a0001c0001t0003g0004 a0001c0001t0003g0011 a0001c0001t0003g0081 a0001c0001t0003g0083 a0001c0001t0003g0089 a0001c0001t0003g0107 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0128 a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0005g0009 a0001c0001t0005g0037 a0001c0001t0005g0041 a0001c0001t0005g0158 a0001c0001t0005g0177 a0001c0001t0005g0179 a0001c0001t0005g0183 a0001c0001t0005g0191 a0001c0001t0005g0193 a0001c0001t0005g0214 a0001c0001t0005g0216 a0001c0001t0005g0217 a0001c0001t0005g0221 a0001c0001t0005g0222 a0001c0001t0005g0225 a0001c0001t0005g0229 a0001c0001t0005g0231 a0001c0001t0005g0232 a0001c0001t0010g0030 a0001c0001t0010g0076 a0001c0001t0010g0077 a0001c0001t0010g0147 a0001c0001t0010g0153 a0001c0001t0011g0074 a0001c0001t0011g0075 a0001c0001t0011g0093 a0001c0001t0011g0126 a0001c0001t0019g0106 a0001c0001t0019g0108 a0001c0001t0020g0115 a0001c0001t0020g0134 a0001c0001t0022g0040 a0001c0001t0027g0124 a0001c0001t0028g0125 a0001c0001t0029g0105 a0001c0001t0031g0127 a0001c0002t0003g0052 a0001c0002t0003g0060 a0005c0013t0011g0123	82	372	0.2204	-304	c.929 others(15): Show c.929-962_929-659del	SPOCK2	ENSG00000107742.14	transcript	ENST00000373109.7	protein_coding	8/10			chr10	TogoVar
SRPK2_chr7_105111374_105393921	105385093	CGATCTCC others(297): Show CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCATTTTTTTTTTTTTTTTTTTTT TTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAAGCTGGAGTGCAGTGGCA CAATCCCGGCTCACTGCAAGCTCCGCCTTCCAGGTTCACGCCATTCTCTC GCCTCAGCCTCCCGAGTAGCTGAGACTACAGGCGCCCGCCACCATGCCGG GCTAATTTTGTTTTTGTATTTTTAGTAGAGACGGGGTGTTAGCCAGGATG GTCTT	C C	intron_variant intron_variant	MODIFIER	HG01175.hp1 NA20300.hp1 HG01175.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0029 a0001c0001t0001g0030	2	282	0.0071	-304	c.71+ others(15): Show c.71+3251_71+3554del	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	2/15			chr7	TogoVar
TMEM87B_chr2_112050269_112124314	112114674	AAAGATTC others(297): Show AAAGATTCATAACTCTACAGAAAGAGGTAGCATTACAGAAAGATTCATAA CTCTACAGAAAGAGGTAGCATTACAGAAAGATTCATAACTCTACAGAAAG AGGTAGCATTACAGAAAGATTCATAACTCTACAGAAAGATGTAGCATTAC AGAAAGATTCATAACTCTACAGAAAGATGTAGCATTACAGAAAGATTCAT AACTCTACAGAAAGAGGTAGCATTACAGAAAGATTCATAACTCTACAGAA AGAGGTAGCATTACAGAAAGATTCATAACTCTACAGAAAGATGTAGCATT ACAGG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01081.hp1 HG01175.hp1 others(25): Show HG00323.hp1 HG01081.hp1 HG01175.hp1 HG01257.hp1 HG01258.hp1 HG01515.hp2 HG01884.hp1 HG02257.hp1 HG02809.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03491.hp2 HG03704.hp1 NA18522.hp2 NA18747.hp2 NA18940.hp2 NA18974.hp2 NA18988.hp2 NA18993.hp2 NA18994.hp2 NA18999.hp2 NA19007.hp1 NA19090.hp1 NA20300.hp1 NA20805.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 others(5): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0008 a0002c0002t0012 a0002c0002t0014 a0002c0002t0018	a0001c0001t0001g0220 a0001c0001t0001g0221 a0002c0002t0001g0199 others(25): Show a0001c0001t0001g0220 a0001c0001t0001g0221 a0002c0002t0001g0199 a0002c0002t0001g0207 a0002c0002t0001g0222 a0002c0002t0003g0004 a0002c0002t0003g0134 a0002c0002t0003g0153 a0002c0002t0003g0155 a0002c0002t0003g0158 a0002c0002t0003g0160 a0002c0002t0003g0164 a0002c0002t0003g0178 a0002c0002t0003g0179 a0002c0002t0004g0017 a0002c0002t0004g0022 a0002c0002t0004g0023 a0002c0002t0004g0109 a0002c0002t0004g0114 a0002c0002t0004g0117 a0002c0002t0004g0118 a0002c0002t0004g0126 a0002c0002t0004g0128 a0002c0002t0004g0296 a0002c0002t0008g0146 a0002c0002t0012g0283 a0002c0002t0014g0150 a0002c0002t0018g0294	28	316	0.0886	-304	c.160 others(18): Show c.1609-1271_1609-968del	TMEM87B	ENSG00000153214.11	transcript	ENST00000283206.9	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
TNK2_chr3_195858364_195913551	195881072	CTAACACC others(297): Show CTAACACCCCCCCAGCAGTGCCCCTTGGAGAGGACACAGCATCTATCCCT GTAACACCCCCCCAGCAGTGCCCCTTGGAGAGGACACAGCATCTATCCCT GTAACACCCCCCCAGCAATGCCCCTTGGAGAGGACACAGCGTCTATCCCT GTAACACCCGCCCCCAGCGATGCCCCTTGGAGAGGACACAGTGTCTATCC CTCTAACACCACCCGCCAGCAATGCCCCTTGAAGAGGACACAGGATCTGT CCCTCTAACACCCCCCCAGCAGTGCCCCTTGGAGAGGACACAGCATCTAT CCCTG	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02559.hp1 HG03834.hp2 others(1): Show HG00558.hp1 HG02559.hp1 HG03834.hp2 NA19080.hp2	a0001 a0004 a0001 a0004	a0001c0006 a0001c0014 a0004c0032 a0001c0006 a0001c0014 a0004c0032	a0001c0006t0012 a0001c0014t0004 a0004c0032t0001 others(1): Show a0001c0006t0012 a0001c0014t0004 a0004c0032t0001 a0004c0032t0002	a0001c0006t0012g0065 a0001c0014t0004g0109 a0004c0032t0001g0303 others(1): Show a0001c0006t0012g0065 a0001c0014t0004g0109 a0004c0032t0001g0303 a0004c0032t0002g0301	4	372	0.0108	-304	c.887 others(15): Show c.887+675_887+978del	TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	6/15			chr3	TogoVar
TRIM46_chr1_155168849_155189970	155188914	GCGGTGGA others(297): Show GCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GGCTGGGGGGGCGGTGGAGCCCGGGGGCCGGCCTGGTGTCCGGTGCCGAG GTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGAGCCGGTCTGTTGTC CGGGGCCGAGGTGACACCGTGTGCTGGAGTGTCGGTGGAGCCCGAGGCCG GCCTGGTGTCCGGGGCCGAGGTGACACTGTGAGCTGGGCTGCGGGCGCGG TGGAGCCCGGGGCCGGCCTGCTCTCTGTTTTAAATATACACCGTGGGCTG CGGGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG01109.hp2 HG01243.hp2 others(16): Show HG00597.hp2 HG01109.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01981.hp1 HG02004.hp1 HG02145.hp1 HG02630.hp2 HG02647.hp1 HG02738.hp1 HG03516.hp1 HG04199.hp1 HG04228.hp1 NA18993.hp1 NA18995.hp1 NA19011.hp2 NA19090.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 a0001c0001t0001 a0001c0002t0001 a0001c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0049 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0002t0001g0002 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0018 a0001c0002t0001g0062 a0001c0006t0001g0046	19	348	0.0546	-304	c.47 others(11): Show c.4725_*5028del	TRIM46	ENSG00000163462.19	transcript	ENST00000334634.9	protein_coding		3945		chr1	TogoVar
U2SURP_chr3_142996570_143065725	143047336	CCCTCCCG others(297): Show CCCTCCCGGACGGGGTGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACTGGGCGGCTGA CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGACTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGC CCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCC TCCCG	C C	intron_variant intron_variant	MODIFIER	HG02273.hp1 NA18979.hp2 HG02273.hp1 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0222 a0001c0001t0001g0143 a0001c0001t0001g0222	2	378	0.0053	-304	c.254 others(19): Show c.2545-3588_2545-3285del	U2SURP	ENSG00000163714.18	transcript	ENST00000473835.7	protein_coding	24/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
UNC5A_chr5_176805559_176885898	176871498	CCCAACAC others(297): Show CCCAACACCACAGCTTCCCATCTGCCCACGCTCACCAACACCACAGCTTC ACATCTGCCCACACTCACCAACACCACAGCTTCCCATCTGCCCACACCTG CCCCAACACCACAGCTTCCCATCTGCCCACACTCGCCCCACACCACAGCT TCCCATCTGCCCACACTCGCCCCACACCACAGCTTCCCATCTGCCCACAC TCACCAACACCACAGCTTCACATCTGCCCACACCTGCCCCAACACCACAG CTTCCCATCTGCCCACACTCGCCCAACACCACAGCTTCACATCTGCCCAC ACTCA	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA19240.hp1 HG02622.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0229 a0001c0001t0001g0099 a0001c0001t0001g0229	2	268	0.0075	-304	c.886 others(16): Show c.886+993_886+1296del	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
VIPR2_chr7_159023175_159149867	159088856	AGCTCCTC others(297): Show AGCTCCTCATCTGGGGAATGGGAATAGCCTCAGGCCTCGGCTCCTCATCT GTGGAATGGGAATAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATGGGAA TAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATGGGAATAGCCTCAGGCC TCGGCTCCTCATCTGTGGAATGGGAATAGCCTCAGGCCTCGGCTCCTCAT CTGTGGAATGGGAATAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATGGG AATAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATGGGAATAGCCTCAGG CCTCG	A A	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01255.hp1 HG01361.hp1 others(2): Show HG01106.hp2 HG01255.hp1 HG01361.hp1 HG02293.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0021 a0001c0001t0001 a0001c0001t0021	a0001c0001t0001g0099 a0001c0001t0001g0295 a0001c0001t0001g0296 others(2): Show a0001c0001t0001g0099 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0021g0298	5	336	0.0149	-304	c.357 others(19): Show c.357+14597_357+14900del	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	4/12			chr7	TogoVar
WDR13_chrX_48592492_48613869	48609068	GTGGCTCA others(297): Show GTGGCTCACACCTGTAATCCCAGCACTTTAGGAGGCCAAGGCAGGCGGAT CACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGT CTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCACGTGCCTGT AGTCCCAGCTACTCGGGAGGCTAAGGTAGGAGAATCACTTGAACCCGGGA GGCGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGT GACAGAGCGAGACTCCGTGTAAAAAAAAAAAAAAAAAAAAAATGGCTGGG CTCGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02622.hp1 NA19043.hp1 HG01891.hp1 HG02622.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0016 a0001c0001t0018g0033 a0001c0001t0018g0016 a0001c0001t0018g0033	3	310	0.0097	-304	c.40 others(11): Show c.4037_*4340del	WDR13	ENSG00000101940.18	transcript	ENST00000376729.10	protein_coding		200		chrX	TogoVar
ZBTB42_chr14_104796101_104809712	104807768	GAGCACCC others(297): Show GAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCCAG ACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCCAGACTCCCCAGGAT AACAAGGCCGTACAGAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTA CAGAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCC AGACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCCAGACTCCCCAGG ATAACAAGGCCGTACAGAGCACCCCCAGACTCCCCAGGATAACAAGGCCG TACAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0000 a0002c0002t0005g0000	1	99	0.0101	-304	c.53 others(11): Show c.5303_*5606del	ZBTB42	ENSG00000179627.10	transcript	ENST00000342537.8	protein_coding		3057		chr14	TogoVar
ZBTB42_chr14_104796101_104809712	104808110	GAGCACCC others(297): Show GAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCCAG ACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCCAGACTCCCCAGGAT AACAAGGCCGTACAGAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTA CAGAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCC AGACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCCAGACTCCCCAGG ATAACAAGGCCGTACACAGCACCCCCAGACTCCCCAGGATAACAAGGCCG TACAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	1	99	0.0101	-304	c.56 others(11): Show c.5645_*5948del	ZBTB42	ENSG00000179627.10	transcript	ENST00000342537.8	protein_coding		3399		chr14	TogoVar
ZBTB42_chr14_104796101_104809712	104808160	ACTCCCCA others(297): Show ACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCCAGACTCCCCAGGAT AACAAGGCCGTACAGAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTA CAGAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCC AGACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCCAGACTCCCCAGG ATAACAAGGCCGTACACAGCACCCCCAGACTCCCCAGGATAACAAGGCCG TACACAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTACAGAGCACCC CCAGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18963.hp1 NA19054.hp1 NA18963.hp1 NA19054.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0000 a0002c0002t0004g0000	2	99	0.0202	-304	c.56 others(11): Show c.5695_*5998del	ZBTB42	ENSG00000179627.10	transcript	ENST00000342537.8	protein_coding		3449		chr14	TogoVar
ZNF276_chr16_89716537_89745925	89745389	GAAACAGT others(297): Show GAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACAAAACAGTGAAG GGACCACACTCCTCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTCC TCTGAGCTGGGAACGAAACAGTGAAGGGACCACACTGCCCTGAGCTGGGA ACGAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACAAAACAGTGA AGGGACCACACTGCCCTGAGCTGGGAACGAAACAGTGAAGGGACCACACT CCTCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTGCCCTGAGCTGG GAACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00438.hp1 HG00597.hp1 others(33): Show HG00323.hp2 HG00438.hp1 HG00597.hp1 HG00621.hp1 HG01175.hp2 HG02015.hp1 HG02040.hp2 HG02056.hp1 HG02074.hp2 HG02080.hp1 HG02135.hp2 HG02165.hp1 HG02523.hp1 HG03491.hp1 HG03492.hp2 NA18612.hp1 NA18940.hp2 NA18943.hp1 NA18947.hp2 NA18950.hp2 NA18952.hp1 NA18954.hp2 NA18955.hp2 NA18960.hp1 NA18968.hp1 NA18982.hp2 NA18984.hp2 NA18990.hp2 NA18994.hp2 NA19002.hp2 NA19003.hp2 NA19062.hp2 NA19063.hp2 NA19070.hp1 NA19074.hp2 NA19087.hp1	a0002 a0002	a0002c0003 a0002c0021 a0002c0003 a0002c0021	a0002c0003t0005 a0002c0003t0009 a0002c0003t0014 others(5): Show a0002c0003t0005 a0002c0003t0009 a0002c0003t0014 a0002c0003t0015 a0002c0003t0025 a0002c0003t0045 a0002c0003t0056 a0002c0021t0014	a0002c0003t0005g0006 a0002c0003t0005g0008 a0002c0003t0005g0031 others(28): Show a0002c0003t0005g0006 a0002c0003t0005g0008 a0002c0003t0005g0031 a0002c0003t0005g0032 a0002c0003t0005g0124 a0002c0003t0005g0126 a0002c0003t0005g0127 a0002c0003t0005g0129 a0002c0003t0005g0133 a0002c0003t0005g0135 a0002c0003t0005g0136 a0002c0003t0005g0137 a0002c0003t0005g0138 a0002c0003t0005g0140 a0002c0003t0005g0296 a0002c0003t0009g0006 a0002c0003t0009g0008 a0002c0003t0009g0123 a0002c0003t0009g0128 a0002c0003t0009g0130 a0002c0003t0009g0139 a0002c0003t0009g0141 a0002c0003t0014g0006 a0002c0003t0014g0132 a0002c0003t0015g0125 a0002c0003t0015g0134 a0002c0003t0015g0144 a0002c0003t0025g0006 a0002c0003t0045g0008 a0002c0003t0056g0142 a0002c0021t0014g0131	36	420	0.0857	-304	c.71 others(11): Show c.7144_*7447del	ZNF276	ENSG00000158805.12	transcript	ENST00000443381.7	protein_coding		4465		chr16	TogoVar
ZNF516_chr18_76352682_76500242	76393582	GGGCAGGG others(297): Show GGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGG CAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGG AAGCC	G G	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0167 a0001c0001t0004g0167	1	346	0.0029	-304	c.181 others(21): Show c.1811-13583_1811-13280del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76393591	GGGTGGTC others(297): Show GGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTC AGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGT GGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGG GGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAG GGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGA AGGCA	G G	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0031 a0001c0001t0003g0031	1	346	0.0029	-304	c.181 others(21): Show c.1811-13592_1811-13289del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76394095	AGGCAGGT others(297): Show AGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGC AGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGT GGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGG TGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG GGGAG	A A	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	346	0.0029	-304	c.181 others(21): Show c.1811-14096_1811-13793del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ABCG1_chr21_42214140_42302244	42283723	ACCCAGAT others(296): Show ACCCAGATGAGTGGGGACCCCCCACCTCTGTCCTGCCTGGACAGTTGTGA AGTACCCCCCAACCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGCCT GGACAGTTGCAAAGTCCCCCCGCCCAGATGAGTGGGGACCCCCCCACCTC TGTCCCGCCTGGACAGTTGCAAAGTCCCCCCGCCCAGATGAGTGGGGACC CCCCCACCTCTGTCCCGCCTGGACAGTTGCGAAGTCCCCCCCGCCCAGAT GAGTGGGGACCCCCCCACCTCTGTCCCGCCTGGACAGTTGCGAAGTCCCC CCCG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp2 HG00544.hp1 others(61): Show HG00140.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00735.hp2 HG01123.hp2 HG01243.hp1 HG01257.hp1 HG01258.hp1 HG01516.hp1 HG01884.hp1 HG01993.hp1 HG01993.hp2 HG02015.hp2 HG02071.hp1 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02155.hp2 HG02165.hp1 HG02523.hp1 HG02523.hp2 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02698.hp1 HG02738.hp2 HG02970.hp2 HG03041.hp2 HG03139.hp1 HG03491.hp2 HG03492.hp1 HG04204.hp1 NA18612.hp2 NA18939.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18952.hp2 NA18955.hp1 NA18956.hp1 NA18964.hp2 NA18968.hp1 NA18975.hp1 NA18989.hp1 NA18994.hp2 NA18999.hp1 NA19000.hp1 NA19003.hp2 NA19004.hp1 NA19007.hp1 NA19010.hp1 NA19012.hp1 NA19043.hp2 NA19056.hp1 NA19070.hp2 NA19079.hp2 NA19085.hp1 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0013 a0001c0001t0021 a0001c0001t0025 a0001c0003t0019 a0001c0004t0003	a0001c0001t0001g0083 a0001c0001t0001g0111 a0001c0001t0001g0112 others(60): Show a0001c0001t0001g0083 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0122 a0001c0001t0001g0128 a0001c0001t0001g0139 a0001c0001t0001g0157 a0001c0001t0001g0168 a0001c0001t0001g0177 a0001c0001t0001g0184 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0208 a0001c0001t0001g0246 a0001c0001t0001g0255 a0001c0001t0001g0297 a0001c0001t0001g0334 a0001c0001t0001g0336 a0001c0001t0002g0073 a0001c0001t0002g0173 a0001c0001t0002g0175 a0001c0001t0002g0203 a0001c0001t0002g0230 a0001c0001t0002g0233 a0001c0001t0002g0245 a0001c0001t0002g0299 a0001c0001t0002g0305 a0001c0001t0003g0068 a0001c0001t0003g0072 a0001c0001t0003g0105 a0001c0001t0003g0106 a0001c0001t0003g0116 a0001c0001t0003g0217 a0001c0001t0003g0232 a0001c0001t0003g0346 a0001c0001t0004g0003 a0001c0001t0004g0158 a0001c0001t0004g0169 a0001c0001t0004g0264 a0001c0001t0004g0311 a0001c0001t0004g0313 a0001c0001t0005g0009 a0001c0001t0005g0051 a0001c0001t0005g0060 a0001c0001t0005g0067 a0001c0001t0006g0016 a0001c0001t0006g0028 a0001c0001t0006g0036 a0001c0001t0006g0038 a0001c0001t0006g0047 a0001c0001t0006g0053 a0001c0001t0006g0059 a0001c0001t0006g0063 a0001c0001t0007g0026 a0001c0001t0007g0027 a0001c0001t0010g0144 a0001c0001t0013g0294 a0001c0001t0021g0008 a0001c0001t0025g0070 a0001c0003t0019g0029 a0001c0004t0003g0074 a0001c0004t0003g0126 a0001c0004t0003g0127	64	354	0.1808	-303	c.735 others(15): Show c.735-814_735-512del	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr21	TogoVar
ABCG1_chr21_42214140_42302244	42283775	TACCCCCC others(296): Show TACCCCCCAACCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGCCTGG ACAGTTGCAAAGTCCCCCCGCCCAGATGAGTGGGGACCCCCCCACCTCTG TCCCGCCTGGACAGTTGCAAAGTCCCCCCGCCCAGATGAGTGGGGACCCC CCCACCTCTGTCCCGCCTGGACAGTTGCGAAGTCCCCCCCGCCCAGATGA GTGGGGACCCCCCCACCTCTGTCCCGCCTGGACAGTTGCGAAGTCCCCCC CGCCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGCCTGGACAGTTGC AAAG	T T	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0262 a0001c0001t0029g0262	1	354	0.0028	-303	c.735 others(15): Show c.735-784_735-482del	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	6/14			chr21	TogoVar
ABCG1_chr21_42214140_42302244	42283837	TCCCCCCG others(296): Show TCCCCCCGCCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGCCTGGAC AGTTGCAAAGTCCCCCCGCCCAGATGAGTGGGGACCCCCCCACCTCTGTC CCGCCTGGACAGTTGCGAAGTCCCCCCCGCCCAGATGAGTGGGGACCCCC CCACCTCTGTCCCGCCTGGACAGTTGCGAAGTCCCCCCCGCCCAGATGAG TGGGGACCCCCCCACCTCTGTCCCGCCTGGACAGTTGCAAAGTCCCCCCG CCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGCCTGGACAGTTGCGA AGTC	T T	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02004.hp1 HG02148.hp2 HG01081.hp2 HG02004.hp1 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0027 a0001c0001t0003 a0001c0001t0027	a0001c0001t0003g0079 a0001c0001t0003g0202 a0001c0001t0027g0344 a0001c0001t0003g0079 a0001c0001t0003g0202 a0001c0001t0027g0344	3	354	0.0085	-303	c.735 others(15): Show c.735-614_735-312del	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr21	TogoVar
AGGF1_chr5_77025404_77070234	77043179	GGGGCTGA others(296): Show GGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCT CCCGGACAGGGCGGCTGGCCGGGCGGGGGTCTGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGTTGGCCGGG CGGA	G G	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG03453.hp2 HG01496.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0121 a0001c0001t0012g0137 a0001c0001t0012g0121 a0001c0001t0012g0137	2	438	0.0046	-303	c.871 others(17): Show c.871-3126_871-2824del	AGGF1	ENSG00000164252.13	transcript	ENST00000312916.12	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr5	TogoVar
BIRC6_chr2_32352023_32623878	32447528	GTCCTCAC others(296): Show GTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCG GACGGCGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCTCCCCCCTCCCGG ACTGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCTGG TCGGGGCGACTGGCCGGGCAGAGGGGCTCTTCACTTCCCAGTAGGGGCGG CCGGGCATAGGAGCCCCTCACCTCCCGGACGGGGCCGCTCGCCGGGCGGG CCCC	G G	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0262	1	274	0.0037	-303	c.448 others(18): Show c.4485-1266_4485-964del	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	21/73			chr2	TogoVar
C7orf50_chr7_992006_1143247	1038497	CGCCTGGC others(296): Show CGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCC GCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCTGTCCGG GAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCTGGG AGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCT	C C	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0298 a0001c0001t0003g0298	1	326	0.0031	-303	c.130 others(19): Show c.130-28657_130-28355del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
CDC34_chr19_526760_547087	540124	ACGTTTAG others(296): Show ACGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATC CGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGG TGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCC CCGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAAT CCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGG GTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCC CCCG	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02895.hp1 HG02897.hp1 others(3): Show HG02630.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp2 HG03195.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0067 a0001c0001t0001g0068 others(1): Show a0001c0001t0001g0015 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069	6	328	0.0183	-303	c.498 others(16): Show c.498-1214_498-912del	CDC34	ENSG00000099804.9	transcript	ENST00000215574.9	protein_coding	4/4			chr19	TogoVar
CLTC_chr17_59614895_59701956	59654408	CCTCAAGT others(296): Show CCTCAAGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGC ATGAGCCACTGCACCCAGCTGTGTATAACATTTTTCTTTTAGAGACGGAA TCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCGGCTCACT GCAACCTCCGCCTCCGGGGTCAAGCAATTCTCCTGCCTCAGCCTCCCCAG TAGCTGGGACTACAGGTGCACACTGCCATGCCTGGCTAATTTCTTCCGTA TTTAGTAGAGACAGGGTTTCACTGTTTTGCCCAGGGTGGTCTCGAACTCC TGAG	C C	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	260	0.0039	-303	c.796 others(17): Show c.796-1441_796-1139del	CLTC	ENSG00000141367.13	transcript	ENST00000269122.8	protein_coding	5/31		INFO_REALIGN_3_PRIME	chr17	TogoVar
COL18A1_chr21_45400165_45518720	45501765	AGAAGGAC others(296): Show AGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCTCTCTGCAGAAGGA CCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAG GGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCC ACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCCTCCGCAGCC GGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCGGTCACC TCCCTCTGCAGAAGGACCCTCAGGGGCCTCCGCAGCCGGTCACCTCCCTC TGCC	A A	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0063 a0001c0063	a0001c0063t0001 a0001c0063t0001	a0001c0063t0001g0144 a0001c0063t0001g0144	1	292	0.0034	-303	c.268 others(19): Show c.2684-2210_2684-1908del	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
DIAPH2_chrX_96679842_97609997	96939660	TAGGTAAC others(296): Show TAGGTAACATTTTTTTTTTTTTTGAGACGGAGTTTCGCTCTGTCGCCCAG GCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAAGCTCCGCCTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGACTACAGGC GCGCGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTT TCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCC GTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG GCCC	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01109.hp1 others(14): Show HG01069.hp1 HG01071.hp1 HG01109.hp1 HG01891.hp1 HG01891.hp2 HG02055.hp1 HG02280.hp2 HG02647.hp1 HG02809.hp1 HG02895.hp1 HG02922.hp2 HG03139.hp1 HG03471.hp1 HG03540.hp2 HG03579.hp1 NA18522.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0022 a0001c0003t0001 a0001c0004t0001 a0001c0009t0001	a0001c0001t0001g0138 a0001c0001t0001g0142 a0001c0001t0002g0004 others(14): Show a0001c0001t0001g0138 a0001c0001t0001g0142 a0001c0001t0002g0004 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0139 a0001c0001t0003g0006 a0001c0001t0006g0005 a0001c0001t0011g0001 a0001c0001t0011g0002 a0001c0001t0012g0003 a0001c0001t0012g0143 a0001c0001t0013g0141 a0001c0001t0022g0112 a0001c0003t0001g0136 a0001c0004t0001g0140 a0001c0009t0001g0007	17	147	0.1157	-303	c.132 others(17): Show c.1325+293_1325+595del	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	12/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
FOXN3_chr14_89151177_89422233	89361018	CCACCTCC others(296): Show CCACCTCCACCACCACCTCCACCACCACCACCTCCAGCACTACCTCCAGC ACCACCTCCACCACCACCACCTCCAGCACCACCACCACCACCACCTCCAC CACTACCACCTCCAGCACCACCTCCACCACCACCACCTCCAGCACTACCT CCAGCACCACCTCCACCACCACCACCTCCAGCACCACCACCACCACCTCC ACCACCACCACCTCCACCACCACCACCTCCAGCACCACCTCCACCACCAC CACCACCTCCACCACCACCACCTCCAGCACCACCTCCACCACCACCACCT CCAG	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0175 a0001c0001t0002g0175	1	230	0.0044	-303	c.544 others(19): Show c.544-10513_544-10211del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FOXN3_chr14_89151177_89422233	89361053	AGCACTAC others(296): Show AGCACTACCTCCAGCACCACCTCCACCACCACCACCTCCAGCACCACCAC CACCACCACCTCCACCACTACCACCTCCAGCACCACCTCCACCACCACCA CCTCCAGCACTACCTCCAGCACCACCTCCACCACCACCACCTCCAGCACC ACCACCACCACCTCCACCACCACCACCTCCACCACCACCACCTCCAGCAC CACCTCCACCACCACCACCACCTCCACCACCACCACCTCCAGCACCACCT CCACCACCACCACCTCCAGCACCACCTCCACCACCACCACCTCCAGCACC ACCT	A A	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0010 a0001c0001t0034g0010	1	230	0.0044	-303	c.544 others(19): Show c.544-10548_544-10246del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
GABRG3_chr15_26966181_27546984	27388064	GGTAAGGA others(296): Show GGTAAGGAAGGAAGGAAGGAAAGGAGGGAGGAAAGGGAGGGAGGGAAAAG AAGGAAGGAAGGAAAGGAGGGAGGGAGGGTAAGGAAGGAAGGAAGAAAGG AAGGAAGGAAGGAAAGGAGGGAGGGAGGGTAAGGAAGGAAGGAAGGAAAG GAGGAAGGAAGGAAAGGGAGGAGGGAGGGAGGAAAGGAAGGAAGGAAAGG AGGGAGGGAGGGTAAGGAAGGAAGGAAGAAAAGAAGGAAGGAAAGGGAGG GAGGGAAAAGAAGGAAGGAAGGAAAGGTGGGAGGGAGGGTAAGGAAGGAA GGAA	G G	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01891.hp2 others(4): Show HG01070.hp1 HG01071.hp2 HG01891.hp2 HG02145.hp2 HG02451.hp2 HG02809.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007	a0001c0001t0001 a0001c0001t0004 a0001c0002t0026 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0026 a0001c0003t0032 a0001c0007t0001	a0001c0001t0001g0021 a0001c0001t0001g0076 a0001c0001t0001g0077 others(4): Show a0001c0001t0001g0021 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0004g0007 a0001c0002t0026g0070 a0001c0003t0032g0040 a0001c0007t0001g0048	7	92	0.0761	-303	c.574 others(19): Show c.574+59178_574+59480del	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GAPVD1_chr9_125256826_125372207	125310705	ATTTTGTA others(296): Show ATTTTGTATTTTTAGTAGAGATGGGTTTTCTCCATGTTGGTCAGGCTGGA CTTGAACTCCCGGCCTCAGGAGATCCACCCACCTCAGCCTCCCAAAGTGC TGAGATTACAGGCGTGAGCCACCGCGCCCAGCCTTCTTCTTTTTTTTTTT TTTAGACGGAGTTTCGCTTTTATCGCGCAGGCTGGAGTGCAATACTGCGA TCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTACC TCAGCCTCCCAAGTAGTTGGGATTACAGGTGCCTGCCACCATGCCCGGCT AATT	A A	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0037 a0001c0016t0037	a0001c0016t0037g0152 a0001c0016t0037g0152	1	340	0.0029	-303	c.144 others(19): Show c.1442-1726_1442-1424del	GAPVD1	ENSG00000165219.23	transcript	ENST00000297933.11	protein_coding	8/27		INFO_REALIGN_3_PRIME	chr9	TogoVar
GINS3_chr16_58387471_58411147	58395966	CCCCCCAC others(296): Show CCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCTGGGCAGAGGGGCTCCT CACTTTCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACTCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCTGGGTGGGGGGCTGACCCCCCCACCTCCCTCTTGGACGGG GCGGCTGGCCGGGCAGAGGGGCTCCTCACTTACCAGTAGGGGCGGCCGGG CAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGCT GACT	C C	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	434	0.0023	-303	c.186 others(17): Show c.186+3200_186+3502del	GINS3	ENSG00000181938.14	transcript	ENST00000318129.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr16	TogoVar
GPATCH2_chr1_217421992_217636090	217580732	TAGAAAGG others(296): Show TAGAAAGGCAGAATCTCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGG GTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAA CCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCG CCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATGGCGTTGAAC CCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCA GTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAA AAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00558.hp1 HG00558.hp2 others(107): Show HG00099.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp2 HG00741.hp1 HG01071.hp1 HG01106.hp1 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01175.hp2 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01496.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02280.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02647.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02896.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03688.hp2 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG04204.hp2 HG06807.hp2 NA18612.hp1 NA18906.hp2 NA18943.hp2 NA18949.hp1 NA18949.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp2 NA18968.hp2 NA18983.hp1 NA18983.hp2 NA18994.hp1 NA18994.hp2 NA19009.hp1 NA19009.hp2 NA19043.hp1 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA20129.hp1 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0007 a0002c0002 others(2): Show a0001c0001 a0001c0007 a0002c0002 a0003c0003 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(33): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0038 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0007t0002 a0002c0002t0008 a0002c0002t0013 a0002c0002t0019 a0002c0002t0030 a0002c0002t0039 a0003c0003t0010 a0003c0003t0037 a0004c0006t0001	a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0023 others(107): Show a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0049 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0073 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0002g0099 a0001c0001t0002g0103 a0001c0001t0002g0112 a0001c0001t0002g0114 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0139 a0001c0001t0002g0148 a0001c0001t0002g0150 a0001c0001t0002g0161 a0001c0001t0002g0164 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0184 a0001c0001t0003g0006 a0001c0001t0003g0009 a0001c0001t0003g0021 a0001c0001t0003g0030 a0001c0001t0003g0039 a0001c0001t0003g0048 a0001c0001t0003g0052 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0072 a0001c0001t0003g0077 a0001c0001t0003g0089 a0001c0001t0004g0154 a0001c0001t0004g0163 a0001c0001t0005g0020 a0001c0001t0005g0043 a0001c0001t0005g0050 a0001c0001t0005g0051 a0001c0001t0005g0069 a0001c0001t0005g0071 a0001c0001t0005g0074 a0001c0001t0005g0095 a0001c0001t0006g0133 a0001c0001t0006g0146 a0001c0001t0006g0165 a0001c0001t0006g0173 a0001c0001t0006g0180 a0001c0001t0007g0004 a0001c0001t0007g0075 a0001c0001t0007g0076 a0001c0001t0007g0078 a0001c0001t0007g0079 a0001c0001t0009g0098 a0001c0001t0009g0187 a0001c0001t0010g0134 a0001c0001t0011g0138 a0001c0001t0011g0149 a0001c0001t0012g0031 a0001c0001t0014g0032 a0001c0001t0014g0094 a0001c0001t0015g0153 a0001c0001t0022g0182 a0001c0001t0022g0183 a0001c0001t0024g0003 a0001c0001t0025g0001 a0001c0001t0026g0090 a0001c0001t0027g0093 a0001c0001t0029g0042 a0001c0001t0032g0056 a0001c0001t0033g0081 a0001c0001t0034g0027 a0001c0001t0035g0035 a0001c0001t0038g0110 a0001c0001t0040g0135 a0001c0001t0041g0181 a0001c0001t0042g0174 a0001c0007t0002g0147 a0002c0002t0008g0156 a0002c0002t0013g0046 a0002c0002t0013g0055 a0002c0002t0013g0087 a0002c0002t0019g0155 a0002c0002t0030g0047 a0002c0002t0039g0162 a0003c0003t0010g0167 a0003c0003t0010g0188 a0003c0003t0037g0080 a0004c0006t0001g0053	110	188	0.5851	-303	c.109 others(21): Show c.1098+29286_1098+29588del	GPATCH2	ENSG00000092978.11	transcript	ENST00000366935.8	protein_coding	5/9			chr1	TogoVar
GRIFIN_chr7_2469728_2481398	2472505	AAAAAAAA others(296): Show AAAAAAAAAAAAAAAAAAAAAAGACTGGGCGTGGTGGTTCATGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCAAAAGGTCAGGAGATC GAGACCATCCTGACTAACATGGTGAAACCCCGTCTCTACTAAAAATATAA AAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGGTTGCAGTGAG CCGAGATCACACCACTGCACTCCAGCCTGGGTGACAGAGCCAGACTCCGT TTCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	380	0.0026	-303	c.20 others(11): Show c.2062_*2364del	GRIFIN	ENSG00000275572.2	transcript	ENST00000614228.2	protein_coding		2222		chr7	TogoVar
GTPBP6_chrX_299759_323796	305535	ATGGTCTC others(296): Show ATGGTCTCGATCTCCTGACTTCGTGATCCACCCGCCTCGGCCTCCCAAAG TGCTGGGATGACAGGCATGAGCCACTGCGCCCGGCTTTTTATTTTTTATT TTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCAGGCTGGGGTGCAGTGG CACGATCTTGGCTCACTGCAACCTCGGCCTCCTGGGTTCCAGCAATTCTC CGGCCTTAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACTGCGCC CGGCTAATTTTTTGTATTTTTATTAGAGACGGGGTTTCACCGTGTTAGCC AGGC	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02258.hp2 HG02717.hp1 others(8): Show HG00741.hp1 HG02258.hp2 HG02717.hp1 HG02970.hp2 HG03130.hp2 HG03942.hp2 NA18941.hp1 NA18949.hp2 NA18951.hp2 NA18957.hp2 NA19057.hp2	a0001 a0002 a0007 others(4): Show a0001 a0002 a0007 a0011 a0012 a0014 a0019	a0001c0003 a0002c0005 a0002c0036 others(5): Show a0001c0003 a0002c0005 a0002c0036 a0007c0008 a0011c0014 a0012c0013 a0014c0023 a0019c0026	a0001c0003t0001 a0002c0005t0001 a0002c0036t0001 others(5): Show a0001c0003t0001 a0002c0005t0001 a0002c0036t0001 a0007c0008t0001 a0011c0014t0001 a0012c0013t0001 a0014c0023t0001 a0019c0026t0001	a0001c0003t0001g0072 a0002c0005t0001g0079 a0002c0036t0001g0071 others(7): Show a0001c0003t0001g0072 a0002c0005t0001g0079 a0002c0036t0001g0071 a0007c0008t0001g0011 a0007c0008t0001g0021 a0007c0008t0001g0023 a0011c0014t0001g0007 a0012c0013t0001g0146 a0014c0023t0001g0075 a0019c0026t0001g0048	11	155	0.0710	-303	c.142 others(17): Show c.1428-641_1428-339del	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding	9/9			chrX	TogoVar
GZMM_chr19_539053_554922	540124	ACGTTTAG others(296): Show ACGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATC CGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGG TGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCC CCGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAAT CCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGG GTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCC CCCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02895.hp2 HG02922.hp1 others(2): Show HG02630.hp2 HG02895.hp2 HG02922.hp1 HG03139.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0161 a0001c0001t0001g0224 a0001c0001t0001g0225 others(2): Show a0001c0001t0001g0161 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0002t0001g0160 a0001c0002t0001g0222	5	398	0.0126	-303	c.-39 others(11): Show c.-3947_-3645del	GZMM	ENSG00000197540.8	transcript	ENST00000264553.6	protein_coding		3928		chr19	TogoVar
HDAC5_chr17_44071753_44128641	44125708	AATGGTGA others(296): Show AATGGTGAAACCCCGTCTTTACTAAAAATTCAAAAATTAGGCGGGCGTGG TGGTGCACTTCTGTAATCCCAGCTTCTCAGGAGGCTGAGACGAAACAATC ACTTGAAACCGAGAGGCGGAGGTTGCAGCGAGCCGAGATCGGGCTATTGC ACTCCAGCCTGGGCGGGTGACAGAGCGAGATTCCGTCTCAAAAAAAAAAA TAAAAATAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGG GAGGTCGAGGTGGGCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGC TAAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0193 a0001c0001t0002g0193	1	296	0.0034	-303	c.-26 others(11): Show c.-2697_-2395del	HDAC5	ENSG00000108840.16	transcript	ENST00000682912.1	protein_coding		2068		chr17	TogoVar
INPP5E_chr9_136423619_136444845	136431189	CTCCTCAT others(296): Show CTCCTCATCTCCCACCACGCCCACCCTCCCCCCACCCGCCGCAGGCCCTC ACCTTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTCTCC TCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCC TCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCC GCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCC AGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCA CCTT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02615.hp2 HG02896.hp2 others(2): Show HG01109.hp1 HG02615.hp2 HG02896.hp2 HG02897.hp2 HG03579.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0009 a0001c0005t0004g0009	5	382	0.0131	-303	c.154 others(16): Show c.1549+332_1550-73del	INPP5E	ENSG00000148384.14	transcript	ENST00000371712.4	protein_coding	7/9			chr9	TogoVar
KIAA0232_chr4_6777727_6889164	6879890	CCCTCACC others(296): Show CCCTCACCATCTGTACTGTGTCACTGCAAACTCCCTTCCCAACACACCCG TCTGCAGTGCCCCCTCACCATCTGTACTGTGTCACTGCAAACTCCCTTCC CAACACACAGGTCTGTAGTGTCGCCTCACCATCTGTACTGTGTCACTGCA AACTCCCTTCCCAACACAGAGGTCTGCAGTGTCCCCTCACCATCTGTACT GTGTCACTGCAAACTCCCTTCCCAACACACAGGTCTGTAGTGTCGCCTCA CCATCTGTACTGTGTCACTGCAAACTCCCTTCCCAACACAGAGGTCTGCA GTGT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0144 a0001c0001t0006g0144	1	362	0.0028	-303	c.400 others(17): Show c.4009-894_4009-592del	KIAA0232	ENSG00000170871.12	transcript	ENST00000307659.6	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr4	TogoVar

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Search Results (Total: 10000 hits)