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
ST6GALNAC3_chr1_76069746_76639603	76112094	GGGGCGGC others(169): Show GGGGCGGCTGGCCGGGCGGGGGGCTGACACTCCCACCTCCCTCCCGGACA GGGCGGCTGGCCGGGCAGAGGGGCTCCTCTCTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG CTGACCCCCCCACCTCCTTCCTGGACA	G G	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03130.hp2 HG03225.hp1 others(2): Show HG02896.hp2 HG03130.hp2 HG03225.hp1 HG06807.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0002c0004	a0001c0001t0003 a0001c0001t0019 a0001c0003t0022 others(2): Show a0001c0001t0003 a0001c0001t0019 a0001c0003t0022 a0002c0002t0014 a0002c0004t0001	a0001c0001t0003g0102 a0001c0001t0019g0082 a0001c0003t0022g0020 others(2): Show a0001c0001t0003g0102 a0001c0001t0019g0082 a0001c0003t0022g0020 a0002c0002t0014g0084 a0002c0004t0001g0083	5	102	0.0490	-176	c.18+ others(17): Show c.18+37227_18+37402del	ST6GALNAC3	ENSG00000184005.12	transcript	ENST00000328299.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
STAM2_chr2_152111801_152180763	152160772	CGGGAAGT others(169): Show CGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAAGGT GGTGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGTGAG GGGCGCCTCTGCCCAGCCGCCCCTACT	C C	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0253 a0001c0001t0004g0253	1	360	0.0028	-176	c.41- others(17): Show c.41-10719_41-10544del	STAM2	ENSG00000115145.10	transcript	ENST00000263904.5	protein_coding	1/13			chr2	TogoVar
STK38L_chr12_27239286_27330959	27240977	TTATATAT others(169): Show TTATATATATTACATATATGACTGTATAGTTATATATATTACATATATGA CTATGTATAGTTATATATATTACATATATGACTCTGTATAGTTATATATA TTACATATATGACTCTGTATAGTTATATATATTACATATATGACTCTGTA TAGTTATATATATTACATATATGACTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0194 a0001c0001t0002g0194	1	374	0.0027	-176	c.-33 others(11): Show c.-3366_-3191del	STK38L	ENSG00000211455.8	transcript	ENST00000389032.8	protein_coding		3308		chr12	TogoVar
SULT1B1_chr4_69716167_69765620	69762217	GCCCCGTC others(169): Show GCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGA AGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCAGGAGGGAGGTGG GGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGGGG GGGGTCAGCCCCCCGCCCGGCCAGCCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00733.hp2 HG00741.hp1 others(10): Show HG00140.hp2 HG00733.hp2 HG00741.hp1 HG01169.hp1 HG01516.hp2 HG01517.hp2 HG02155.hp1 NA18960.hp1 NA18984.hp1 NA18995.hp2 NA19066.hp2 NA19085.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0017 a0001c0001t0025 others(2): Show a0001c0001t0015 a0001c0001t0017 a0001c0001t0025 a0001c0001t0122 a0001c0001t0131	a0001c0001t0015g0184 a0001c0001t0015g0218 a0001c0001t0017g0021 others(5): Show a0001c0001t0015g0184 a0001c0001t0015g0218 a0001c0001t0017g0021 a0001c0001t0017g0153 a0001c0001t0025g0013 a0001c0001t0025g0185 a0001c0001t0122g0154 a0001c0001t0131g0155	13	408	0.0319	-176	c.-19 others(11): Show c.-1979_-1804del	SULT1B1	ENSG00000173597.9	transcript	ENST00000310613.8	protein_coding		1598		chr4	TogoVar
SVOP_chr12_108902741_109026068	108980586	TGAAAATA others(169): Show TGAAAATACAAAAAATTAGCTGGGCGCGGTGGCGGGCGCCTGTAGTCCCA GCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAG CTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCTGGCCTGGGC AACAGAGCGAGACTCCGTCTCAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(94): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00544.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01891.hp1 HG01891.hp2 HG02055.hp1 HG02155.hp1 HG02258.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02738.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03688.hp1 HG03688.hp2 HG03831.hp2 HG04199.hp2 HG06807.hp2 NA18522.hp1 NA18747.hp1 NA18939.hp1 NA18947.hp1 NA18953.hp1 NA18954.hp2 NA18960.hp2 NA18971.hp2 NA18972.hp2 NA18981.hp1 NA18982.hp1 NA18984.hp1 NA18988.hp1 NA18994.hp2 NA18998.hp2 NA19000.hp2 NA19002.hp1 NA19030.hp1 NA19064.hp1 NA19066.hp2 NA19067.hp1 NA19074.hp1 NA19082.hp2 NA19084.hp1 NA19085.hp1 NA19088.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0006 a0001c0002 a0001c0004 a0001c0006	a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 others(41): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0010 a0001c0002t0012 a0001c0002t0013 a0001c0002t0014 a0001c0002t0015 a0001c0002t0020 a0001c0002t0021 a0001c0002t0023 a0001c0002t0024 a0001c0002t0025 a0001c0002t0026 a0001c0002t0027 a0001c0002t0028 a0001c0002t0029 a0001c0002t0030 a0001c0002t0032 a0001c0002t0033 a0001c0002t0034 a0001c0002t0036 a0001c0002t0039 a0001c0002t0040 a0001c0002t0044 a0001c0002t0045 a0001c0002t0054 a0001c0002t0056 a0001c0002t0060 a0001c0002t0063 a0001c0002t0071 a0001c0002t0072 a0001c0002t0073 a0001c0002t0074 a0001c0002t0078 a0001c0002t0079 a0001c0002t0082 a0001c0002t0084 a0001c0004t0011 a0001c0004t0016 a0001c0004t0018 a0001c0006t0001	a0001c0002t0001g0096 a0001c0002t0001g0168 a0001c0002t0001g0187 others(93): Show a0001c0002t0001g0096 a0001c0002t0001g0168 a0001c0002t0001g0187 a0001c0002t0001g0195 a0001c0002t0001g0199 a0001c0002t0001g0202 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0213 a0001c0002t0001g0225 a0001c0002t0001g0227 a0001c0002t0001g0282 a0001c0002t0001g0283 a0001c0002t0001g0284 a0001c0002t0002g0146 a0001c0002t0002g0162 a0001c0002t0002g0192 a0001c0002t0002g0193 a0001c0002t0002g0198 a0001c0002t0002g0201 a0001c0002t0002g0217 a0001c0002t0002g0221 a0001c0002t0002g0246 a0001c0002t0004g0267 a0001c0002t0004g0272 a0001c0002t0005g0189 a0001c0002t0005g0215 a0001c0002t0005g0216 a0001c0002t0006g0163 a0001c0002t0006g0233 a0001c0002t0006g0269 a0001c0002t0010g0002 a0001c0002t0010g0055 a0001c0002t0010g0070 a0001c0002t0010g0071 a0001c0002t0010g0173 a0001c0002t0010g0190 a0001c0002t0012g0249 a0001c0002t0013g0166 a0001c0002t0013g0265 a0001c0002t0013g0277 a0001c0002t0014g0174 a0001c0002t0014g0177 a0001c0002t0014g0179 a0001c0002t0014g0281 a0001c0002t0015g0149 a0001c0002t0015g0159 a0001c0002t0020g0178 a0001c0002t0021g0148 a0001c0002t0021g0150 a0001c0002t0021g0271 a0001c0002t0023g0182 a0001c0002t0023g0232 a0001c0002t0023g0280 a0001c0002t0024g0153 a0001c0002t0024g0235 a0001c0002t0025g0183 a0001c0002t0025g0184 a0001c0002t0025g0185 a0001c0002t0026g0065 a0001c0002t0026g0103 a0001c0002t0027g0069 a0001c0002t0028g0260 a0001c0002t0028g0261 a0001c0002t0029g0229 a0001c0002t0030g0128 a0001c0002t0032g0066 a0001c0002t0032g0176 a0001c0002t0033g0196 a0001c0002t0033g0197 a0001c0002t0034g0285 a0001c0002t0034g0286 a0001c0002t0036g0048 a0001c0002t0039g0012 a0001c0002t0040g0011 a0001c0002t0044g0003 a0001c0002t0045g0028 a0001c0002t0054g0276 a0001c0002t0056g0152 a0001c0002t0060g0158 a0001c0002t0063g0266 a0001c0002t0071g0275 a0001c0002t0072g0231 a0001c0002t0073g0175 a0001c0002t0074g0262 a0001c0002t0078g0105 a0001c0002t0079g0268 a0001c0002t0082g0214 a0001c0002t0084g0206 a0001c0004t0011g0068 a0001c0004t0011g0186 a0001c0004t0011g0200 a0001c0004t0016g0164 a0001c0004t0018g0073 a0001c0004t0018g0226 a0001c0006t0001g0203	97	288	0.3368	-176	c.197 others(17): Show c.197-2099_197-1924del	SVOP	ENSG00000166111.10	transcript	ENST00000610966.5	protein_coding	2/15			chr12	TogoVar
SYNPR_chr3_63273308_63621924	63313770	CATATATA others(169): Show CATATATATATATCCATATATATATATCCATATATATATCCATATATATA TCCATATATATATCCATATATATATATCCATATATATATCCATATATATA TATCCATATATATATCCATATATATATATCCATATATATATCCATATATA TATATATCCATATATATATATATCCAT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG00558.hp1 others(37): Show HG00423.hp1 HG00438.hp2 HG00558.hp1 HG00642.hp2 HG01074.hp1 HG01257.hp1 HG01261.hp1 HG01361.hp1 HG01433.hp2 HG01516.hp2 HG02004.hp2 HG02040.hp2 HG02055.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02155.hp1 HG02165.hp2 HG02273.hp2 HG03688.hp1 HG03688.hp2 HG03834.hp2 HG04204.hp2 NA18951.hp1 NA18955.hp1 NA18971.hp1 NA18977.hp1 NA18979.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18999.hp2 NA19007.hp1 NA19030.hp1 NA19057.hp2 NA19068.hp1 NA19077.hp2 NA19085.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0010	a0001c0001t0001g0097 a0001c0001t0001g0153 a0001c0001t0001g0161 others(37): Show a0001c0001t0001g0097 a0001c0001t0001g0153 a0001c0001t0001g0161 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0179 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0193 a0001c0001t0001g0198 a0001c0001t0001g0203 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0156 a0001c0001t0002g0160 a0001c0001t0002g0166 a0001c0001t0002g0169 a0001c0001t0002g0175 a0001c0001t0002g0181 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0202 a0001c0001t0003g0162 a0001c0001t0003g0176 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0194 a0001c0001t0007g0159 a0001c0001t0010g0180	40	246	0.1626	-176	c.84+ others(17): Show c.84+35067_84+35242del	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
TBC1D12_chr10_94397541_94541332	94491784	TTCAAAGA others(169): Show TTCAAAGAACCCTTATTTTATTAGTAATGCCCCCAAAGCTTAAGAGTAGT GGTGCTGACAATTCAGATATGCCAAAGAGAAGCTGTAAAGTTCCTCCTTT AAGCAAAAAGGTGAAAGTTCTCAAATTAATAAGAAAAAAAAATCATATGC TGAAGTTGCTAAGATCTGTGGTAAGAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp1 others(75): Show HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00438.hp2 HG00597.hp2 HG00609.hp2 HG00639.hp2 HG00673.hp2 HG01074.hp1 HG01123.hp1 HG01175.hp1 HG01257.hp1 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp2 HG01515.hp1 HG01517.hp1 HG01928.hp1 HG01981.hp1 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02132.hp2 HG02135.hp1 HG02257.hp1 HG02300.hp1 HG02523.hp1 HG02647.hp1 HG02683.hp2 HG03041.hp1 HG03471.hp1 HG03540.hp1 HG03704.hp1 HG03831.hp1 HG03834.hp2 HG03927.hp2 HG04228.hp2 NA18612.hp1 NA18939.hp2 NA18942.hp1 NA18945.hp2 NA18947.hp2 NA18956.hp1 NA18964.hp1 NA18970.hp1 NA18973.hp1 NA18979.hp2 NA18980.hp1 NA18983.hp1 NA18984.hp2 NA18986.hp1 NA18995.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp2 NA19001.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19012.hp1 NA19063.hp1 NA19066.hp2 NA19068.hp2 NA19072.hp1 NA19085.hp1 NA19088.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0017 others(1): Show a0001c0001t0001 a0001c0001t0014 a0001c0001t0017 a0001c0001t0023	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 others(75): Show a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0031 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0014g0124 a0001c0001t0017g0074 a0001c0001t0023g0120	78	346	0.2254	-176	c.121 others(19): Show c.1212-1577_1212-1402del	TBC1D12	ENSG00000108239.9	transcript	ENST00000225235.5	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
TMEM63C_chr14_77176798_77264495	77235501	ATGGGTGG others(169): Show ATGGGTGGCGGTTATGGGGAGACTGCAATGGGTGGGAGGATCTGGGGAGA CTGTGATGGGTGGGAGGGAGCAGGGAGCCCTAGGAGACTGTGATGGGTGG GGAAGGTGTCCAGGGGGACTGCAGTGGGTGGGGGTCTGGGGAGACTGTGG TGGGTGGGGGGTCTGGGGAGACTGTGG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00323.hp2 others(91): Show HG00099.hp1 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00639.hp1 HG00733.hp1 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01081.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01256.hp2 HG01261.hp2 HG01358.hp2 HG01433.hp1 HG01496.hp1 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG02027.hp2 HG02055.hp2 HG02056.hp1 HG02083.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02257.hp1 HG02273.hp2 HG02293.hp1 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02897.hp1 HG02965.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03540.hp2 HG03654.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04204.hp2 HG06807.hp2 NA18975.hp2 NA18979.hp1 NA18986.hp2 NA18995.hp1 NA19005.hp1 NA19009.hp1 NA19030.hp1 NA19064.hp1 NA19064.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0012 a0001c0014 a0001c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(41): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0028 a0001c0001t0029 a0001c0001t0031 a0001c0001t0036 a0001c0001t0038 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0010 a0001c0002t0014 a0001c0002t0019 a0001c0002t0035 a0001c0002t0039 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0006 a0001c0003t0016 a0001c0003t0030 a0001c0005t0002 a0001c0005t0004 a0001c0005t0009 a0001c0005t0010 a0001c0007t0041 a0001c0012t0012 a0001c0014t0025 a0001c0023t0008	a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 others(91): Show a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0172 a0001c0001t0001g0247 a0001c0001t0001g0273 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0081 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0105 a0001c0001t0002g0151 a0001c0001t0002g0186 a0001c0001t0002g0202 a0001c0001t0002g0245 a0001c0001t0002g0301 a0001c0001t0003g0090 a0001c0001t0004g0051 a0001c0001t0004g0118 a0001c0001t0005g0277 a0001c0001t0005g0294 a0001c0001t0006g0072 a0001c0001t0008g0197 a0001c0001t0008g0310 a0001c0001t0008g0319 a0001c0001t0009g0302 a0001c0001t0010g0198 a0001c0001t0010g0303 a0001c0001t0010g0304 a0001c0001t0012g0229 a0001c0001t0014g0030 a0001c0001t0015g0092 a0001c0001t0028g0088 a0001c0001t0029g0089 a0001c0001t0031g0033 a0001c0001t0036g0315 a0001c0001t0038g0267 a0001c0002t0001g0022 a0001c0002t0001g0104 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0280 a0001c0002t0001g0316 a0001c0002t0002g0021 a0001c0002t0002g0043 a0001c0002t0002g0053 a0001c0002t0002g0093 a0001c0002t0002g0278 a0001c0002t0002g0286 a0001c0002t0002g0287 a0001c0002t0003g0084 a0001c0002t0003g0210 a0001c0002t0003g0282 a0001c0002t0003g0288 a0001c0002t0005g0042 a0001c0002t0005g0116 a0001c0002t0005g0117 a0001c0002t0005g0231 a0001c0002t0005g0289 a0001c0002t0005g0292 a0001c0002t0006g0034 a0001c0002t0007g0272 a0001c0002t0010g0028 a0001c0002t0014g0271 a0001c0002t0019g0016 a0001c0002t0035g0276 a0001c0002t0039g0156 a0001c0003t0001g0037 a0001c0003t0001g0150 a0001c0003t0001g0157 a0001c0003t0002g0091 a0001c0003t0002g0312 a0001c0003t0003g0147 a0001c0003t0003g0148 a0001c0003t0004g0219 a0001c0003t0005g0149 a0001c0003t0005g0177 a0001c0003t0005g0290 a0001c0003t0006g0221 a0001c0003t0006g0223 a0001c0003t0006g0300 a0001c0003t0016g0155 a0001c0003t0030g0101 a0001c0005t0002g0268 a0001c0005t0002g0305 a0001c0005t0004g0308 a0001c0005t0004g0309 a0001c0005t0009g0307 a0001c0005t0010g0306 a0001c0007t0041g0044 a0001c0012t0012g0262 a0001c0014t0025g0299 a0001c0023t0008g0200	94	322	0.2919	-176	c.543 others(16): Show c.543-1112_543-937del	TMEM63C	ENSG00000165548.11	transcript	ENST00000298351.5	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
TMPRSS15_chr21_18264116_18408785	18315441	AATAACAA others(169): Show AATAACAAACCTGCACGTTGTGCACATGTACCGTAGAACTTAAAGTATAA TAAAATATATATATATAAAATAATAAACATGAGTCCTTTGCCACAGCTCA AGGTGGAGCTAGCTTTGATACTGAGTAAATGACGAGTTAGTGGGTGCAGC ACACCAACATGGCACATGTATACACAT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01243.hp1 HG01243.hp2 others(42): Show HG00741.hp1 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01261.hp1 HG01884.hp1 HG01891.hp1 HG02055.hp2 HG02145.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03540.hp2 HG03927.hp1 HG06807.hp2 NA18522.hp1 NA18970.hp2 NA18971.hp1 NA19054.hp2 NA19240.hp1	a0001 a0002 a0003 others(17): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0010 a0012 a0014 a0015 a0016 a0017 a0022 a0025 a0027 a0028 a0032 a0038 a0041	a0001c0001 a0001c0007 a0002c0002 others(25): Show a0001c0001 a0001c0007 a0002c0002 a0002c0011 a0003c0009 a0004c0005 a0004c0018 a0005c0033 a0007c0023 a0007c0048 a0007c0062 a0008c0013 a0008c0060 a0010c0024 a0010c0049 a0012c0016 a0014c0058 a0014c0059 a0015c0037 a0016c0020 a0017c0035 a0022c0069 a0025c0050 a0027c0061 a0028c0056 a0032c0043 a0038c0028 a0041c0066	a0001c0001t0001 a0001c0001t0003 a0001c0001t0014 others(31): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0014 a0001c0007t0002 a0002c0002t0001 a0002c0011t0002 a0003c0009t0002 a0004c0005t0001 a0004c0018t0002 a0005c0033t0002 a0007c0023t0001 a0007c0048t0008 a0007c0062t0002 a0008c0013t0001 a0008c0013t0004 a0008c0013t0007 a0008c0060t0002 a0010c0024t0008 a0010c0024t0012 a0010c0049t0001 a0012c0016t0001 a0014c0058t0002 a0014c0059t0001 a0015c0037t0003 a0016c0020t0002 a0016c0020t0007 a0017c0035t0004 a0022c0069t0004 a0025c0050t0006 a0027c0061t0004 a0028c0056t0001 a0032c0043t0001 a0038c0028t0001 a0041c0066t0003	a0001c0001t0001g0015 a0001c0001t0001g0217 a0001c0001t0001g0250 others(42): Show a0001c0001t0001g0015 a0001c0001t0001g0217 a0001c0001t0001g0250 a0001c0001t0003g0089 a0001c0001t0014g0096 a0001c0007t0002g0095 a0002c0002t0001g0076 a0002c0002t0001g0147 a0002c0011t0002g0061 a0002c0011t0002g0203 a0002c0011t0002g0204 a0002c0011t0002g0205 a0002c0011t0002g0253 a0003c0009t0002g0097 a0003c0009t0002g0098 a0003c0009t0002g0099 a0003c0009t0002g0100 a0004c0005t0001g0192 a0004c0018t0002g0182 a0005c0033t0002g0280 a0007c0023t0001g0075 a0007c0023t0001g0084 a0007c0048t0008g0200 a0007c0062t0002g0301 a0008c0013t0001g0214 a0008c0013t0004g0304 a0008c0013t0007g0239 a0008c0060t0002g0079 a0010c0024t0008g0232 a0010c0024t0012g0088 a0010c0049t0001g0064 a0012c0016t0001g0225 a0014c0058t0002g0052 a0014c0059t0001g0060 a0015c0037t0003g0307 a0016c0020t0002g0113 a0016c0020t0007g0136 a0017c0035t0004g0142 a0022c0069t0004g0279 a0025c0050t0006g0237 a0027c0061t0004g0067 a0028c0056t0001g0289 a0032c0043t0001g0281 a0038c0028t0001g0111 a0041c0066t0003g0004	45	314	0.1433	-176	c.192 others(17): Show c.1922-361_1922-186del	TMPRSS15	ENSG00000154646.9	transcript	ENST00000284885.8	protein_coding	16/24			chr21	TogoVar
TRIM72_chr16_31209119_31236537	31232493	GGGGGGGT others(169): Show GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGG GCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCC GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCGCCCG GCCAGCTGCCCCGTCCGGGAGGGAGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02280.hp2 HG02615.hp2 others(13): Show HG01884.hp1 HG02280.hp2 HG02615.hp2 HG02647.hp2 HG02717.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02922.hp2 HG02965.hp2 HG03098.hp2 HG03195.hp1 HG03225.hp1 HG03579.hp1 NA18522.hp2 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0005 a0001c0003t0022 a0001c0003t0023 others(4): Show a0001c0003t0005 a0001c0003t0022 a0001c0003t0023 a0001c0003t0024 a0001c0004t0003 a0001c0004t0025 a0001c0004t0029	a0001c0003t0005g0016 a0001c0003t0005g0017 a0001c0003t0022g0042 others(8): Show a0001c0003t0005g0016 a0001c0003t0005g0017 a0001c0003t0022g0042 a0001c0003t0023g0016 a0001c0003t0024g0017 a0001c0004t0003g0019 a0001c0004t0003g0025 a0001c0004t0003g0046 a0001c0004t0003g0047 a0001c0004t0025g0025 a0001c0004t0029g0019	16	312	0.0513	-176	c.77 others(11): Show c.7739_*7914del	TRIM72	ENSG00000177238.15	transcript	ENST00000322122.8	protein_coding		957		chr16	TogoVar
TRPC4AP_chr20_34997404_35097807	35097455	GTACACAC others(169): Show GTACACACGTGTGTATATATACATATGTACACACGTGTGTATATATACAT ATGTACACACGTGTGTATATATACATATGTACACACGTGTGTATATATAC ATATGTACACACGTGTGTATATATACATATACACACGTGTGTATATATAC ATATACACACGTGTGTATATATACATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02970.hp2 HG03225.hp2 others(1): Show HG02451.hp1 HG02970.hp2 HG03225.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0041 others(1): Show a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0041 a0001c0001t0003g0259	4	334	0.0120	-176	c.-48 others(11): Show c.-4850_-4675del	TRPC4AP	ENSG00000100991.12	transcript	ENST00000252015.3	protein_coding		4649		chr20	TogoVar
TRPM2_chr21_44348621_44447644	44369464	CGCTGTGG others(169): Show CGCTGTGGGGAGCAGGCGGAGTGTGCGGGGGCCGGGGTGTGGGTGACGTC TGACCGGGTGCTGCGGGGAGCAGGTGGAGTGTGCGGGGGCCGGGGTGTGG GTGAGTTCTGACCGGGTGCTGCGGGGAGCAGGTGGAGTGTGCGGGGGAGG CGGGGTGTGGGTGACGTCTGACCGGGT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02280.hp1 HG02647.hp1 HG01081.hp2 HG02280.hp1 HG02647.hp1	a0001 a0001	a0001c0003 a0001c0008 a0001c0003 a0001c0008	a0001c0003t0001 a0001c0008t0010 a0001c0003t0001 a0001c0008t0010	a0001c0003t0001g0041 a0001c0003t0001g0042 a0001c0008t0010g0040 a0001c0003t0001g0041 a0001c0003t0001g0042 a0001c0008t0010g0040	3	44	0.0682	-176	c.771 others(15): Show c.771+126_771+301del	TRPM2	ENSG00000142185.18	transcript	ENST00000397928.6	protein_coding	5/31		INFO_REALIGN_3_PRIME	chr21	TogoVar
U2SURP_chr3_142996570_143065725	143047608	GCTGGCCG others(169): Show GCTGGCCGGGCAGGGGGCTGACCCCCCCTCCCGCCTCCCGGACGGGGCGG CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTGACC CTCCCACCTCCCTCCTGAACGGGGCGA	G G	intron_variant intron_variant	MODIFIER	HG02080.hp1 NA19085.hp1 HG02080.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0241 a0001c0001t0004g0248 a0001c0001t0004g0241 a0001c0001t0004g0248	2	378	0.0053	-176	c.254 others(19): Show c.2545-3318_2545-3143del	U2SURP	ENSG00000163714.18	transcript	ENST00000473835.7	protein_coding	24/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
USP10_chr16_84695000_84784922	84765170	AAGTATAC others(169): Show AAGTATACACAGATGTTATGAAATAGAGATAGTAAAATAGTTGCTACAGT GAAGCAGATAAACATATTCCCCATCACAGTTACCCTTGTGTGTGTGTGTG TGCACATGGCAAGAGCAGCTGCAGTTTTACTCATTTCACAAAAGTCCCAA ATACAGTGCACTATGAGTAGCTCTTGT	A A	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0015 a0001c0007t0015	a0001c0007t0015g0006 a0001c0007t0015g0006	1	430	0.0023	-176	c.183 others(18): Show c.1832+908_1832+1083del	USP10	ENSG00000103194.16	transcript	ENST00000219473.12	protein_coding	10/13			chr16	TogoVar
VAPB_chr20_58384229_58456101	58413768	CGGGGGGC others(169): Show CGGGGGGCTGACCTCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGGC GGGGGGCTGACCCCGCCACCTCCCTCCCAGATAGGGCGGCTGGCCTGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCA CCTCCCGGATGGGGCGGCTGGCCGGGT	C C	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0061 a0001c0001t0045g0061	1	370	0.0027	-176	c.59- others(15): Show c.59-4311_59-4136del	VAPB	ENSG00000124164.16	transcript	ENST00000475243.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
WDR33_chr2_127696027_127816171	127787529	TCGGGGGG others(169): Show TCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGG	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02280.hp1 HG02451.hp1 others(4): Show HG02145.hp1 HG02280.hp1 HG02451.hp1 HG02559.hp2 HG02965.hp2 HG03486.hp1 NA18522.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0015 a0001c0001 a0004c0015	a0001c0001t0002 a0004c0015t0002 a0001c0001t0002 a0004c0015t0002	a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 others(4): Show a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0094 a0004c0015t0002g0090	7	318	0.0220	-176	c.-23 others(19): Show c.-23-16701_-23-16526del	WDR33	ENSG00000136709.12	transcript	ENST00000322313.9	protein_coding	1/21			chr2	TogoVar
XG_chrX_2747040_2821500	2773582	AGAAGGAA others(169): Show AGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAG AAGGAAGGAAGGAGCGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAA GGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGG AAGGAAGGAGAGAAGGAAGGAAGGAGC	A A	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0242 a0001c0001t0011g0242	1	322	0.0031	-176	c.104 others(16): Show c.104-1118_104-943del	XG	ENSG00000124343.14	transcript	ENST00000644266.2	protein_coding	2/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
XG_chrX_2747040_2821500	2773598	AGAAGGAA others(169): Show AGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGCG AAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAA GGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGG AAGGAAGGAGCGAAGGAAGGAAGGAGC	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG03453.hp2 HG03540.hp1 HG01070.hp1 HG03453.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0007 a0001c0002t0041 a0001c0001t0001 a0001c0001t0007 a0001c0002t0041	a0001c0001t0001g0204 a0001c0001t0007g0064 a0001c0002t0041g0140 a0001c0001t0001g0204 a0001c0001t0007g0064 a0001c0002t0041g0140	3	322	0.0093	-176	c.104 others(16): Show c.104-1070_104-895del	XG	ENSG00000124343.14	transcript	ENST00000644266.2	protein_coding	2/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
ZCCHC2_chr18_62518025_62583579	62581469	TGAGATGG others(169): Show TGAGATGGTGTCACAGTGCTGTGGAAGGCGAGGTGGACCCCTCCCGAGAT GGTGTCACAGCGCTGTGGAAGGCCAGGTGGACCCCTCCCGAGATGGTGTC ACAGCGCTGTGGAAGGCCAGGTGGACCCCTCCCGAGATGGTGTCACAGCG CTGTGGAAGGCCAGGTGGACCCCTCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG02486.hp2 HG02922.hp2 others(1): Show HG01081.hp2 HG02486.hp2 HG02922.hp2 HG03579.hp1	a0003 a0018 a0003 a0018	a0003c0014 a0018c0046 a0003c0014 a0018c0046	a0003c0014t0019 a0003c0014t0030 a0018c0046t0009 a0003c0014t0019 a0003c0014t0030 a0018c0046t0009	a0003c0014t0019g0085 a0003c0014t0019g0086 a0003c0014t0030g0087 others(1): Show a0003c0014t0019g0085 a0003c0014t0019g0086 a0003c0014t0030g0087 a0018c0046t0009g0300	4	312	0.0128	-176	c.48 others(11): Show c.4891_*5066del	ZCCHC2	ENSG00000141664.10	transcript	ENST00000269499.10	protein_coding		2891		chr18	TogoVar
ZFPM1_chr16_88448280_88542031	88521581	CCCCAACC others(169): Show CCCCAACCCATGCTGTTCCTTCCCTCATGCTGTTCCCCCAACCCGTGCTA TTCCCTCCCCCGTGCTGTTCCCTCCCCTGTGCTGTTCCCCCAACCCGTGC TGTTCCCTCCCTCATGCTGTTCCCTCTCCCCTGTGCTGTTCCCCCTCCCC TGTGCTGTTCCCACACCCTGTGCTGTT	C C	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0059 a0001c0013t0059	a0001c0013t0059g0239 a0001c0013t0059g0239	1	318	0.0031	-176	c.403 others(17): Show c.403-5229_403-5054del	ZFPM1	ENSG00000179588.9	transcript	ENST00000319555.8	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
ZNF114_chr19_48265081_48292608	48272621	CCGAGATC others(169): Show CCGAGATCGTGCCACTGCACTCTAGCCTGGGCGACAGAGCAAGACTCTCT CTCAAAAAAAAAAAAAAAAAAAAAAAAAGTATTGGATTGGAGCCTGTTGT GATGAGGGTGAACTGAAAAGTCCTGGGCAGGGCCAGACGTGCAGGATGCA CTGGTTTCTTACGAGAAAGAGCTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02055.hp1 HG02572.hp2 others(7): Show HG01433.hp1 HG02055.hp1 HG02572.hp2 HG02615.hp1 HG02809.hp2 HG03195.hp2 HG03471.hp1 NA19043.hp1 NA19043.hp2 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0004 a0001c0001 a0001c0003 a0003c0004	a0001c0001t0002 a0001c0001t0009 a0001c0003t0019 others(1): Show a0001c0001t0002 a0001c0001t0009 a0001c0003t0019 a0003c0004t0001	a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 others(7): Show a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0009g0022 a0001c0001t0009g0023 a0001c0003t0019g0260 a0003c0004t0001g0025 a0003c0004t0001g0026 a0003c0004t0001g0027	10	430	0.0233	-176	c.-70 others(15): Show c.-70+794_-70+969del	ZNF114	ENSG00000178150.10	transcript	ENST00000595607.6	protein_coding	3/5			chr19	TogoVar
ZNF117_chr7_64966772_64996036	64967702	CGGGCAGA others(169): Show CGGGCAGAGGGGCTCCTCTCTTCCCAGTAGGGGCGGCTGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGTCTGGCTGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCA CCTCCTTCCCGGACGGGGCGGCTGGCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00438.hp2 others(110): Show HG00140.hp2 HG00323.hp1 HG00438.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01167.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01346.hp1 HG01358.hp2 HG01433.hp1 HG01516.hp2 HG01891.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02148.hp1 HG02148.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02630.hp2 HG02683.hp2 HG02809.hp1 HG02895.hp1 HG02897.hp2 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03453.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18939.hp1 NA18943.hp1 NA18946.hp1 NA18947.hp1 NA18948.hp2 NA18952.hp1 NA18953.hp2 NA18955.hp2 NA18957.hp1 NA18969.hp1 NA18975.hp1 NA18977.hp1 NA18984.hp2 NA18993.hp1 NA18997.hp2 NA18998.hp2 NA18999.hp2 NA19007.hp2 NA19011.hp2 NA19043.hp1 NA19057.hp2 NA19058.hp1 NA19070.hp1 NA19076.hp2 NA19079.hp2 NA20752.hp1 NA20805.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0007 a0009 a0001 a0007 a0009	a0001c0001 a0001c0007 a0007c0013 others(1): Show a0001c0001 a0001c0007 a0007c0013 a0009c0010	a0001c0001t0001 a0001c0001t0006 a0001c0001t0012 others(19): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0012 a0001c0001t0013 a0001c0001t0017 a0001c0001t0022 a0001c0001t0029 a0001c0001t0030 a0001c0001t0034 a0001c0001t0036 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0007t0001 a0007c0013t0001 a0009c0010t0033	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0008 others(69): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0048 a0001c0001t0001g0074 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0091 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0136 a0001c0001t0001g0140 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0153 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0006g0036 a0001c0001t0006g0042 a0001c0001t0006g0044 a0001c0001t0006g0081 a0001c0001t0006g0102 a0001c0001t0006g0112 a0001c0001t0006g0118 a0001c0001t0006g0120 a0001c0001t0006g0123 a0001c0001t0006g0141 a0001c0001t0006g0146 a0001c0001t0006g0157 a0001c0001t0006g0162 a0001c0001t0012g0041 a0001c0001t0012g0047 a0001c0001t0013g0024 a0001c0001t0013g0086 a0001c0001t0017g0039 a0001c0001t0017g0111 a0001c0001t0022g0043 a0001c0001t0029g0068 a0001c0001t0030g0070 a0001c0001t0034g0078 a0001c0001t0036g0117 a0001c0001t0038g0101 a0001c0001t0039g0122 a0001c0001t0040g0087 a0001c0001t0041g0131 a0001c0001t0042g0100 a0001c0001t0043g0148 a0001c0001t0044g0119 a0001c0001t0045g0142 a0001c0001t0046g0104 a0001c0007t0001g0132 a0001c0007t0001g0133 a0007c0013t0001g0154 a0009c0010t0033g0077	113	444	0.2545	-176	c.10 others(13): Show c.10241_*10416del	ZNF117	ENSG00000152926.16	transcript	ENST00000282869.11	protein_coding		4069		chr7	TogoVar
ZNF516_chr18_76352682_76500242	76394522	CAGGTGGT others(169): Show CAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGG TGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGGGGAAGGCAGGTGGTCAGGTGGG	C C	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0235 a0001c0001t0014g0235	1	346	0.0029	-176	c.181 others(21): Show c.1811-14395_1811-14220del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF584_chr19_58403649_58423327	58404906	AGGCAGAG others(169): Show AGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGTGGCTGGCCAGGCGGGGGGCTGACCCCCCCA CCTCCCTCCCGGACAGGGCGGCTGGCAGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCAGATGGGGCGGCTGGCCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0018 a0002c0002t0002g0018	1	426	0.0024	-176	c.-42 others(11): Show c.-4241_-4066del	ZNF584	ENSG00000171574.19	transcript	ENST00000306910.9	protein_coding		3742		chr19	TogoVar
ZNF584_chr19_58403649_58423327	58405238	TCCGGACA others(169): Show TCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGAGCGGCTGGCCGGGCAGAAGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCATCTCCCGGACAGGGCGGCTGGCCGGG TGGGGGACTGATCCCCCCACCTCCCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02895.hp2 HG02897.hp2 others(1): Show HG01884.hp2 HG02895.hp2 HG02897.hp2 HG02970.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0041 a0002c0002t0005g0271 a0002c0002t0005g0279 a0002c0002t0005g0041 a0002c0002t0005g0271 a0002c0002t0005g0279	4	426	0.0094	-176	c.-39 others(11): Show c.-3909_-3734del	ZNF584	ENSG00000171574.19	transcript	ENST00000306910.9	protein_coding		3410		chr19	TogoVar
ZNF584_chr19_58403649_58423327	58405245	AGGGCGGC others(169): Show AGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACG GAGCGGCTGGCCGGGCAGAAGGGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCATCTCCCGGACAGGGCGGCTGGCCGGGTGGGGGA CTGATCCCCCCACCTCCCTCCCGGACG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00408.hp2 others(101): Show HG00140.hp2 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00621.hp1 HG00642.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01346.hp2 HG01361.hp1 HG01515.hp1 HG01517.hp2 HG01884.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp2 HG02257.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03704.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp2 HG06807.hp1 NA18522.hp2 NA18747.hp1 NA18939.hp1 NA18940.hp1 NA18941.hp2 NA18948.hp1 NA18950.hp1 NA18954.hp1 NA18970.hp1 NA18973.hp2 NA18975.hp1 NA18977.hp2 NA18980.hp1 NA18984.hp2 NA18985.hp1 NA18991.hp1 NA18993.hp1 NA18994.hp1 NA19000.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19009.hp2 NA19010.hp2 NA19043.hp1 NA19054.hp2 NA19055.hp2 NA19057.hp2 NA19062.hp1 NA19065.hp1 NA19066.hp1 NA19068.hp2 NA19070.hp2 NA19072.hp1 NA19074.hp1 NA19077.hp2 NA19081.hp1 NA19085.hp1 NA19088.hp2 NA19091.hp1 NA20129.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0008 a0009 a0002 a0008 a0009	a0002c0002 a0008c0007 a0009c0011 a0002c0002 a0008c0007 a0009c0011	a0002c0002t0002 a0002c0002t0005 a0002c0002t0007 others(6): Show a0002c0002t0002 a0002c0002t0005 a0002c0002t0007 a0002c0002t0010 a0002c0002t0015 a0002c0002t0016 a0002c0002t0017 a0008c0007t0014 a0009c0011t0002	a0002c0002t0002g0002 a0002c0002t0002g0003 a0002c0002t0002g0005 others(58): Show a0002c0002t0002g0002 a0002c0002t0002g0003 a0002c0002t0002g0005 a0002c0002t0002g0008 a0002c0002t0002g0016 a0002c0002t0002g0017 a0002c0002t0002g0042 a0002c0002t0002g0043 a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0294 a0002c0002t0002g0296 a0002c0002t0002g0297 a0002c0002t0002g0299 a0002c0002t0002g0301 a0002c0002t0002g0302 a0002c0002t0002g0303 a0002c0002t0002g0304 a0002c0002t0002g0305 a0002c0002t0002g0306 a0002c0002t0002g0307 a0002c0002t0002g0308 a0002c0002t0002g0309 a0002c0002t0002g0311 a0002c0002t0002g0312 a0002c0002t0002g0313 a0002c0002t0002g0314 a0002c0002t0002g0316 a0002c0002t0002g0317 a0002c0002t0005g0005 a0002c0002t0005g0010 a0002c0002t0005g0037 a0002c0002t0005g0038 a0002c0002t0005g0039 a0002c0002t0005g0040 a0002c0002t0005g0269 a0002c0002t0005g0270 a0002c0002t0005g0272 a0002c0002t0005g0273 a0002c0002t0005g0275 a0002c0002t0005g0276 a0002c0002t0005g0277 a0002c0002t0005g0278 a0002c0002t0005g0281 a0002c0002t0005g0282 a0002c0002t0005g0284 a0002c0002t0005g0286 a0002c0002t0005g0287 a0002c0002t0005g0293 a0002c0002t0007g0015 a0002c0002t0007g0289 a0002c0002t0007g0290 a0002c0002t0007g0291 a0002c0002t0010g0288 a0002c0002t0010g0292 a0002c0002t0015g0310 a0002c0002t0016g0298 a0002c0002t0017g0300 a0008c0007t0014g0044 a0009c0011t0002g0295	104	426	0.2441	-176	c.-39 others(11): Show c.-3902_-3727del	ZNF584	ENSG00000171574.19	transcript	ENST00000306910.9	protein_coding		3403		chr19	TogoVar
ZNF586_chr19_57764676_57785616	57767436	GTTTGTTT others(169): Show GTTTGTTTGTTTGTTTGTTTGTTTGAGACGGAGTCTCGCTCTGTCCCCCA GCCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCG GGTTCAAGCCATTCTCCTGCCTCAGGCTCCGGAGTAGCTGGGACTACAGG CGCCTGCCACCACGCCCAGCTAATTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0134 a0001c0001t0002g0134	1	410	0.0024	-176	c.-24 others(11): Show c.-2406_-2231del	ZNF586	ENSG00000083828.16	transcript	ENST00000396154.7	protein_coding		2239		chr19	TogoVar
AARSD1_chr17_42945526_42969454	42967115	TATATATA others(168): Show TATATATAAAATATATATTATATAATATATAATATAATATATAAAATATA TATTATATAATATATAATATAATATATAAAATATATATTATATAATATAT AATATAATATATAAAATATATATTATATAATATATAATATAATATATAAA ATATATATTATATAATATATAATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG02486.hp2 HG02886.hp2 HG01109.hp2 HG02486.hp2 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0046 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0046	3	324	0.0093	-175	c.-28 others(11): Show c.-2850_-2676del	AARSD1	ENSG00000266967.7	transcript	ENST00000427569.7	protein_coding		2662		chr17	TogoVar
ABR_chr17_998519_1184981	1054538	AGAACCTG others(168): Show AGAACCTGAGGGGACGGGGGCACAAAGAACCTGAGGGGATGGGGGCACAA GGAACCTGAGGGGATGGGGGCACAAGGAACCTCAGGGGATGTGGGCACAA GGAACCTCAGGGGATGGGGGCACAAGGAACCTGAGGGGATGGGGGCACAA GGAACCTCAGGGGATGGGGGCACAAG	A A	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0086 a0001c0001t0086	a0001c0001t0086g0294 a0001c0001t0086g0294	1	337	0.0030	-175	c.156 others(19): Show c.1561+1322_1561+1496del	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	14/22			chr17	TogoVar
ABR_chr17_998519_1184981	1153362	TGGCACAC others(168): Show TGGCACACCTGCGGGAGGGCTGGGGATCCAGGCACACCTGCGGGAGGGCT GGGGGTCCAGGCACACCTGCGGGAGGGCTGGGGGTCCAGGCACACCTGCG GGAGGGCTGGGGGTCCAGGCACACCTACGGGAGGGCTGGGGGTCCAGGCA CACCTGCGGGGAGGGCTGGGGACCCA	T T	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0277 a0001c0001t0005g0277	1	337	0.0030	-175	c.61+ others(17): Show c.61+26130_61+26304del	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ACAP3_chr1_1287391_1312930	1289843	CCGTGTCC others(168): Show CCGTGTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC CGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCT CCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCC TGCTCCGTCCCGTGTCCCTGCTCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	295	0.0034	-175	c.35 others(11): Show c.3546_*3720del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2547		chr1	TogoVar
ACLY_chr17_41861918_41923951	41865873	GTTTTTTG others(168): Show GTTTTTTGTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CTGGAGTGCAGTGGCGCGCTCTTCGCTTATTGCAACCTCCGCTGCCCGGG TTCAAGCGATTCTTGTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCG CCCGCCACCACTCCAGGCTAATTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0054 a0002c0002t0001g0054	1	294	0.0034	-175	c.17 others(11): Show c.1762_*1936del	ACLY	ENSG00000131473.17	transcript	ENST00000352035.7	protein_coding		1044		chr17	TogoVar
ANKLE2_chr12_132720503_132766832	132758948	TGTGGCAC others(168): Show TGTGGCACCCCGGGGCACCCACGTGGCAGAGAGGATCGCTGCGGAGTGGC ACCCCGGGGCACCCACGTGGCAGAGTGGATCGCTGCGGAGTGGCACCCCG GGGCACCCACGTGGCAGAGAGGATCGCTGCGGAGTGGCACCCCGGGGCAC CCACGTGGCAGAGTGGATCACGCAGA	T T	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG03139.hp1 HG03471.hp1 others(1): Show HG02129.hp1 HG03139.hp1 HG03471.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0001 a0001c0011t0002 a0001c0001t0001 a0001c0011t0002	a0001c0001t0001g0126 a0001c0011t0002g0129 a0001c0011t0002g0131 others(1): Show a0001c0001t0001g0126 a0001c0011t0002g0129 a0001c0011t0002g0131 a0001c0011t0002g0140	4	350	0.0114	-175	c.181 others(17): Show c.181+2495_181+2669del	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	1/12			chr12	TogoVar
ANXA2_chr15_60342151_60402986	60366831	CGTCCGGG others(168): Show CGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCC GTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCCGGCCAGCCGCCCA	C C	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	334	0.0030	-175	c.149 others(17): Show c.149-2483_149-2309del	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	3/12			chr15	TogoVar
AP3B1_chr5_77997326_78299698	78096857	AGGCCAGC others(168): Show AGGCCAGCCGCCCCGTCCGGGAGGGAGGTAGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCAGCCGCCCCT ACTGGGAAGTGAGGAGTCCCTCTGCCCGGCCAGCCGCCCTGTCCGGGAGG GAGGTGGGGGGGTCAGCCCCCCGCCC	A A	intron_variant intron_variant	MODIFIER	HG02523.hp1 NA19063.hp2 NA19081.hp1 HG02523.hp1 NA19063.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0197 a0001c0001t0001g0215 a0001c0001t0001g0216	3	226	0.0133	-175	c.247 others(19): Show c.2470+3921_2470+4095del	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	21/26			chr5	TogoVar
ARFGEF2_chr20_48916711_49041693	48936052	TGGGGCGG others(168): Show TGGGGCGGCTGGCCGGGCCGGGGGCTGAACCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCGGAC	T T	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA20300.hp1 HG03139.hp2 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0015 a0001c0002t0001 a0001c0002t0015	a0001c0002t0001g0318 a0001c0002t0015g0319 a0001c0002t0001g0318 a0001c0002t0015g0319	2	352	0.0057	-175	c.122 others(17): Show c.122-5129_122-4955del	ARFGEF2	ENSG00000124198.10	transcript	ENST00000371917.5	protein_coding	1/38		INFO_REALIGN_3_PRIME	chr20	TogoVar
ARPC1B_chr7_99369730_99399816	99373473	GCTCTGTT others(168): Show GCTCTGTTGCCAGGCTGGCGTGCAGGGGCCCCATCTTGGCTCACTGCAGC CTCTGCCCCCGGGGTTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGC TGGGATTACAGCAGCGCTCCATCACGCCATGGGGCTCCTTGCAGCTAATT TTTTTTTTTTTTGAAACAGAGTCTCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01167.hp2 HG01169.hp2 others(55): Show HG01081.hp2 HG01167.hp2 HG01169.hp2 HG01243.hp1 HG01346.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01891.hp2 HG02083.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03831.hp1 NA18522.hp1 NA18906.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0003 a0001c0002t0004 others(5): Show a0001c0001t0003 a0001c0002t0003 a0001c0002t0004 a0001c0002t0009 a0001c0002t0012 a0001c0002t0013 a0001c0002t0014 a0001c0002t0025	a0001c0001t0003g0051 a0001c0002t0003g0003 a0001c0002t0003g0018 others(45): Show a0001c0001t0003g0051 a0001c0002t0003g0003 a0001c0002t0003g0018 a0001c0002t0003g0032 a0001c0002t0003g0045 a0001c0002t0003g0046 a0001c0002t0003g0048 a0001c0002t0003g0049 a0001c0002t0003g0050 a0001c0002t0003g0052 a0001c0002t0003g0053 a0001c0002t0003g0054 a0001c0002t0003g0055 a0001c0002t0003g0056 a0001c0002t0003g0058 a0001c0002t0003g0059 a0001c0002t0003g0067 a0001c0002t0003g0068 a0001c0002t0003g0069 a0001c0002t0004g0010 a0001c0002t0004g0011 a0001c0002t0004g0016 a0001c0002t0004g0017 a0001c0002t0004g0033 a0001c0002t0004g0034 a0001c0002t0004g0035 a0001c0002t0004g0036 a0001c0002t0004g0039 a0001c0002t0004g0040 a0001c0002t0004g0041 a0001c0002t0004g0043 a0001c0002t0004g0044 a0001c0002t0009g0019 a0001c0002t0009g0060 a0001c0002t0009g0061 a0001c0002t0009g0062 a0001c0002t0009g0066 a0001c0002t0012g0016 a0001c0002t0012g0037 a0001c0002t0012g0038 a0001c0002t0012g0042 a0001c0002t0013g0047 a0001c0002t0013g0057 a0001c0002t0013g0063 a0001c0002t0014g0015 a0001c0002t0014g0064 a0001c0002t0014g0271 a0001c0002t0025g0065	58	340	0.1706	-175	c.-13 others(11): Show c.-1321_-1147del	ARPC1B	ENSG00000130429.16	transcript	ENST00000646101.2	protein_coding		1256		chr7	TogoVar
C7orf50_chr7_992006_1143247	1038707	GGGGGGTC others(168): Show GGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGG CGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGC CAGCCGCCCTGTCCGGGAGGGAGGTC	G G	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00733.hp1 HG00733.hp2 others(21): Show HG00642.hp1 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG01256.hp2 HG01258.hp1 HG01358.hp1 HG01433.hp2 HG01943.hp1 HG01993.hp1 HG02004.hp1 HG02027.hp1 HG02698.hp2 HG02809.hp2 HG03239.hp1 HG03927.hp1 HG04204.hp1 HG04228.hp1 NA18961.hp1 NA18965.hp2 NA18983.hp1 NA18994.hp2 NA20752.hp1 NA21309.hp1	a0001 a0008 a0009 a0001 a0008 a0009	a0001c0001 a0008c0009 a0009c0003 a0001c0001 a0008c0009 a0009c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0017 a0008c0009t0006 a0009c0003t0011	a0001c0001t0001g0007 a0001c0001t0002g0242 a0001c0001t0006g0081 others(21): Show a0001c0001t0001g0007 a0001c0001t0002g0242 a0001c0001t0006g0081 a0001c0001t0006g0085 a0001c0001t0006g0087 a0001c0001t0006g0088 a0001c0001t0006g0089 a0001c0001t0006g0091 a0001c0001t0006g0092 a0001c0001t0006g0094 a0001c0001t0006g0095 a0001c0001t0006g0097 a0001c0001t0006g0098 a0001c0001t0006g0103 a0001c0001t0009g0117 a0001c0001t0011g0206 a0001c0001t0011g0207 a0001c0001t0011g0261 a0001c0001t0011g0276 a0001c0001t0011g0277 a0001c0001t0017g0084 a0001c0001t0017g0096 a0008c0009t0006g0003 a0009c0003t0011g0274	24	326	0.0736	-175	c.130 others(19): Show c.130-28739_130-28565del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
CACNB4_chr2_151827771_152104044	151875582	GCCCCTCA others(168): Show GCCCCTCACCTCCCGGACGGGGCGGCTCGCCAGGCAGGGGGCTGACCCCT CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCC CACCTCCCTCCCGGACGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCA	G G	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0019 a0001c0005t0019	a0001c0005t0019g0199 a0001c0005t0019g0199	1	230	0.0044	-175	c.521 others(15): Show c.521+669_521+843del	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	5/13			chr2	TogoVar
CASP8_chr2_201255536_201292709	201283273	ACCCCCAC others(168): Show ACCCCCACCTCCCTCCTGGACGGGGCGACTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCCGGACTGG GCGGCTGGCCGGGCGGGGGGTTGACC	A A	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0185 a0001c0001t0003g0185	1	386	0.0026	-175	c.803 others(17): Show c.803-1463_803-1289del	CASP8	ENSG00000064012.24	transcript	ENST00000673742.1	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CDK12_chr17_39456486_39539544	39499035	CTTTCTTT others(168): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0051 a0001c0001t0007g0051	1	260	0.0039	-175	c.242 others(19): Show c.2420-2211_2420-2037del	CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CEP131_chr17_81184596_81227965	81209719	GGAGAAGC others(168): Show GGAGAAGCGGACGCTAAGCGAGGATCAGACCGCTCGGAGAAGCGGACGCT AAGCGAGGATCAGAGCGCTCGGAGAAGCGGACGCTAAGCGAGGATCAGAG CGCTCGGAGAAGCGGACGCTAAGCGAGGATCAGAGCGCTCGGAGAAGCGG ACGCTAAGCGAGGATCAGACCGCTCC	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00621.hp1 HG02486.hp2 others(8): Show HG00438.hp1 HG00621.hp1 HG02486.hp2 NA18522.hp1 NA18612.hp1 NA18967.hp2 NA18973.hp2 NA18979.hp1 NA18989.hp2 NA19088.hp1 NA21309.hp2	a0001 a0004 a0007 others(1): Show a0001 a0004 a0007 a0026	a0001c0003 a0004c0005 a0007c0050 others(1): Show a0001c0003 a0004c0005 a0007c0050 a0026c0034	a0001c0003t0002 a0004c0005t0001 a0007c0050t0002 others(1): Show a0001c0003t0002 a0004c0005t0001 a0007c0050t0002 a0026c0034t0003	a0001c0003t0002g0055 a0004c0005t0001g0023 a0004c0005t0001g0278 others(7): Show a0001c0003t0002g0055 a0004c0005t0001g0023 a0004c0005t0001g0278 a0004c0005t0001g0279 a0004c0005t0001g0280 a0004c0005t0001g0281 a0004c0005t0001g0297 a0004c0005t0001g0298 a0007c0050t0002g0056 a0026c0034t0003g0307	11	384	0.0287	-175	c.178 others(15): Show c.178-872_178-698del	CEP131	ENSG00000141577.14	transcript	ENST00000450824.7	protein_coding	2/25			chr17	TogoVar
CEP131_chr17_81184596_81227965	81209888	CCGCTCCG others(168): Show CCGCTCCGAGAAGCGGACGCTAAGCGAGGATCAGAGCGCTCGGAGAAGCG GACGCTAAGCGAGGATCAGAGCGCTCGGAGAAGCGGACGCTAAGCGAGGA TCAGACCGCTCGGAGAAGCGGACGCTAAGCGAGGATCAGAGCGCTCGGAG AAGCGGACGCTAAGCGAGGATCAGAG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00408.hp1 others(90): Show HG00099.hp1 HG00323.hp1 HG00408.hp1 HG00558.hp1 HG00621.hp2 HG00639.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG01070.hp1 HG01074.hp1 HG01081.hp1 HG01168.hp1 HG01169.hp1 HG01255.hp1 HG01257.hp2 HG01258.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01891.hp1 HG01993.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02074.hp2 HG02109.hp2 HG02165.hp2 HG02451.hp1 HG02559.hp1 HG02602.hp2 HG02622.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03516.hp1 HG03579.hp1 HG03654.hp1 HG04115.hp2 HG04184.hp1 HG04228.hp1 NA18906.hp1 NA18943.hp1 NA18949.hp1 NA18950.hp2 NA18952.hp2 NA18956.hp2 NA18957.hp2 NA18959.hp2 NA18962.hp2 NA18964.hp1 NA18977.hp2 NA18979.hp2 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA19003.hp1 NA19005.hp2 NA19009.hp1 NA19011.hp1 NA19030.hp2 NA19055.hp1 NA19077.hp2 NA19090.hp1 NA19240.hp1 NA20129.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0007 a0016 a0021 a0023 a0027 a0035 a0037 a0039 a0046	a0001c0003 a0001c0004 a0001c0051 others(13): Show a0001c0003 a0001c0004 a0001c0051 a0002c0002 a0002c0047 a0003c0023 a0007c0010 a0007c0052 a0016c0021 a0021c0026 a0023c0032 a0027c0069 a0035c0049 a0037c0048 a0039c0046 a0046c0071	a0001c0003t0001 a0001c0003t0002 a0001c0003t0005 others(18): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0005 a0001c0003t0010 a0001c0004t0001 a0001c0004t0002 a0001c0051t0002 a0002c0002t0002 a0002c0002t0012 a0002c0047t0002 a0003c0023t0003 a0007c0010t0002 a0007c0052t0002 a0016c0021t0002 a0021c0026t0003 a0023c0032t0003 a0027c0069t0002 a0035c0049t0002 a0037c0048t0002 a0039c0046t0002 a0046c0071t0001	a0001c0003t0001g0266 a0001c0003t0002g0013 a0001c0003t0002g0037 others(79): Show a0001c0003t0001g0266 a0001c0003t0002g0013 a0001c0003t0002g0037 a0001c0003t0002g0057 a0001c0003t0002g0059 a0001c0003t0002g0072 a0001c0003t0002g0073 a0001c0003t0002g0074 a0001c0003t0002g0075 a0001c0003t0002g0076 a0001c0003t0002g0077 a0001c0003t0002g0078 a0001c0003t0002g0083 a0001c0003t0002g0084 a0001c0003t0002g0085 a0001c0003t0002g0086 a0001c0003t0002g0089 a0001c0003t0002g0090 a0001c0003t0002g0119 a0001c0003t0005g0122 a0001c0003t0005g0123 a0001c0003t0005g0124 a0001c0003t0005g0125 a0001c0003t0005g0126 a0001c0003t0010g0092 a0001c0004t0001g0150 a0001c0004t0001g0304 a0001c0004t0002g0010 a0001c0004t0002g0030 a0001c0004t0002g0040 a0001c0004t0002g0049 a0001c0004t0002g0052 a0001c0004t0002g0068 a0001c0004t0002g0095 a0001c0004t0002g0102 a0001c0004t0002g0116 a0001c0051t0002g0054 a0002c0002t0002g0001 a0002c0002t0002g0014 a0002c0002t0002g0015 a0002c0002t0002g0033 a0002c0002t0002g0035 a0002c0002t0002g0036 a0002c0002t0002g0039 a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0048 a0002c0002t0002g0050 a0002c0002t0002g0067 a0002c0002t0002g0088 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0103 a0002c0002t0002g0110 a0002c0002t0002g0111 a0002c0002t0002g0112 a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0002g0115 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0121 a0002c0002t0012g0306 a0002c0047t0002g0034 a0003c0023t0003g0328 a0003c0023t0003g0329 a0007c0010t0002g0098 a0007c0052t0002g0053 a0016c0021t0002g0061 a0016c0021t0002g0079 a0016c0021t0002g0080 a0021c0026t0003g0331 a0021c0026t0003g0332 a0023c0032t0003g0317 a0027c0069t0002g0094 a0035c0049t0002g0091 a0037c0048t0002g0031 a0039c0046t0002g0038 a0046c0071t0001g0129	93	384	0.2422	-175	c.178 others(16): Show c.178-1041_178-867del	CEP131	ENSG00000141577.14	transcript	ENST00000450824.7	protein_coding	2/25			chr17	TogoVar
CFAP46_chr10_132803392_132947570	132917898	TGCACCTC others(168): Show TGCACCTCAGCACCGATGAACCCCCCTCTCCACGACGCACCTCAGCACCG ATGAACCCCCCTCTCCACGACGCACCTCAGCACCGATGAACCCCCCTCTC CACGACGCACCTCAGCACCGATGAACCCCCCTCTCCACGACGCACCTCAG CACCGATGAACCCCCCTCTCCACGAC	T T	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02523.hp2 HG02683.hp1 HG00621.hp1 HG02523.hp2 HG02683.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0001 a0001c0001t0002 a0002c0003t0001	a0001c0001t0002g0045 a0001c0001t0002g0080 a0002c0003t0001g0128 a0001c0001t0002g0045 a0001c0001t0002g0080 a0002c0003t0001g0128	3	246	0.0122	-175	c.198 others(17): Show c.1986+320_1986+494del	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	16/57			chr10	TogoVar
CFAP92_chr3_128904873_128999076	128954751	CCCTCCGC others(168): Show CCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCC CGGCCGCCCCTACTGGGAAGAGAGGAGCCCCTCTGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGTGTCGG	C C	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	342	0.0029	-175	c.135 others(19): Show c.1354-8951_1354-8777del	CFAP92	ENSG00000114656.13	transcript	ENST00000645291.3	protein_coding	9/15			chr3	TogoVar
CNTN1_chr12_40687439_41077415	41056891	TATATTTA others(168): Show TATATTTAGATATTTATAAATATTTATAATATTTAGATATTTATAAATAT TTATAATATTTAGATATTTATAAATATTATAAATATTTAGATATTTATAA ATATTATAAATATTTAGATATTTATAAATGATATTTATAAATATTATAAA TATTTAGATATTTATAAATATTATAA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03098.hp2 NA19043.hp2 HG02257.hp2 HG03098.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0004 a0001c0004t0003 a0001c0002t0004 a0001c0004t0003	a0001c0002t0004g0117 a0001c0004t0003g0168 a0001c0004t0003g0171 a0001c0002t0004g0117 a0001c0004t0003g0168 a0001c0004t0003g0171	3	230	0.0130	-175	c.298 others(21): Show c.2981-13044_2981-12870del	CNTN1	ENSG00000018236.15	transcript	ENST00000551295.7	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr12	TogoVar
CNTNAP2_chr7_146111801_148425998	147084137	ACATATAT others(168): Show ACATATATGCATAATGCTATATATGTATATATAATACATATATGCATAAT GCTATATATGTATATATAATACATATATGCATAATGCTATATATGTATAT ATAATACATATATGCATAATGCTATATATGTATATATAATACATATATGC ATAATGCTATATATGTATATATAATC	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 NA21309.hp1 HG00735.hp2 NA21309.hp1	a0001 a0001	a0001c0010 a0001c0019 a0001c0010 a0001c0019	a0001c0010t0002 a0001c0019t0006 a0001c0010t0002 a0001c0019t0006	a0001c0010t0002g0014 a0001c0019t0006g0015 a0001c0010t0002g0014 a0001c0019t0006g0015	2	40	0.0500	-175	c.551 others(19): Show c.551-23974_551-23800del	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
COMMD7_chr20_32697699_32748467	32724180	GGGAGGTG others(168): Show GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG CCCCTCTGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGC CCCCCGACCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCC CCCCGCCCGGCCAGCCGCCCCGCCCA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0111 a0001c0001t0002g0111	1	400	0.0025	-175	c.241 others(17): Show c.241+3538_241+3712del	COMMD7	ENSG00000149600.12	transcript	ENST00000278980.11	protein_coding	3/8			chr20	TogoVar
CRACD_chr4_56044098_56335609	56322314	CTTAGAGA others(168): Show CTTAGAGAAGTTAAGTAGTTTTTGTAAGATCATCAAAGATCAAATCCAGG TCTGCTCAATTTTAGAGCCTAGTACTCAACCTGTCACATGAACCTCCTGT GAGGTATTTACCCCCAATTACATAGGTGAGACAGTCAACCACAAGAAAAA CAGAGACGGAAGTCAGAAGGCCTATG	C C	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0018 a0018	a0018c0023 a0018c0023	a0018c0023t0004 a0018c0023t0004	a0018c0023t0004g0206 a0018c0023t0004g0206	1	250	0.0040	-175	c.318 others(18): Show c.3188-1060_3188-886del	CRACD	ENSG00000109265.15	transcript	ENST00000682029.1	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CROCC2_chr2_240901336_240998311	240908275	GCTCTACC others(168): Show GCTCTACCTCCTCCACCTCGGGTGACCTCTACCTCCTCCACCTGGGGTGA GCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTGGGGTGA GCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTCGGGTGA CCTCTACCTCCTCCACCTCGGGTGAC	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0002 a0001c0024t0002	a0001c0024t0002g0342 a0001c0024t0002g0342	1	350	0.0029	-175	c.78+ others(15): Show c.78+1702_78+1876del	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr2	TogoVar

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