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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
BRSK2_chr11_1384934_1467689	1432339	GTCTGGTC others(179): Show GTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTC TGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGG TCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCA GGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGC	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0005 a0002c0008t0005	a0002c0008t0005g0278 a0002c0008t0005g0278	1	360	0.0028	-186	c.92- others(15): Show c.92-3700_92-3515del		BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19						chr11	TogoVar
BRSK2_chr11_1384934_1467689	1432950	GTCTGGTC others(179): Show GTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTC TGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGG TCAGGTTTTGCCACTGTGCTCAGCAGTGAGCCTCTTCTGCGGTCTGGTCA GGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGC	G G	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01891.hp2 HG01978.hp2 others(5): Show HG01255.hp2 HG01891.hp2 HG01978.hp2 HG01993.hp2 HG02273.hp1 HG06807.hp2 NA20752.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0001 a0001c0001t0004 a0001c0001t0048 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0048 a0001c0001t0068 a0001c0016t0018	a0001c0001t0001g0191 a0001c0001t0004g0175 a0001c0001t0004g0180 others(5): Show a0001c0001t0001g0191 a0001c0001t0004g0175 a0001c0001t0004g0180 a0001c0001t0004g0190 a0001c0001t0004g0316 a0001c0001t0048g0342 a0001c0001t0068g0243 a0001c0016t0018g0183	8	360	0.0222	-186	c.92- others(15): Show c.92-3089_92-2904del		BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19						chr11	TogoVar
C7orf50_chr7_992006_1143247	1128967	CCACCCTG others(179): Show CCACCCTGTCACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCTCATCCC ACCGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCA TCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCGTCAC CTGGGCTGGAGTGCAGTGGCGCGATCTCAGCTCATCT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01361.hp2 HG01928.hp2 others(15): Show HG00738.hp2 HG01361.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01993.hp2 HG02071.hp1 HG02300.hp1 HG02698.hp2 HG03704.hp1 HG04204.hp1 NA18948.hp1 NA18959.hp2 NA18964.hp1 NA18983.hp2 NA18985.hp2 NA19000.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0015	a0001c0001t0002g0209 a0001c0001t0002g0211 a0001c0001t0002g0214 others(15): Show a0001c0001t0002g0209 a0001c0001t0002g0211 a0001c0001t0002g0214 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0223 a0001c0001t0002g0228 a0001c0001t0002g0231 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0003g0210 a0001c0001t0003g0213 a0001c0001t0011g0206 a0001c0001t0011g0207 a0001c0001t0011g0226 a0001c0001t0015g0225	18	326	0.0552	-186	c.-1- others(15): Show c.-1-1767_-1-1582del		C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4						chr7	TogoVar
CEP112_chr17_65630537_66197133	65937565	GTGGGGGG others(179): Show GTGGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGTGAG GGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCCCGCCC GGCCAGCCGCCCAGTCTGGGAGGGGGGTGGGGGCGTC	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0007 a0001c0003t0001g0007	1	112	0.0089	-186	c.187 others(20): Show c.1873-10062_1873-9877del		CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	18/26						chr17	TogoVar
COL6A1_chr21_45976770_46010048	45988117	GGGAGTCC others(179): Show GGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGG GTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGGT CCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAG ATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGC	G G	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0044 a0004c0005t0001g0044	1	128	0.0078	-186	c.804 others(15): Show c.804+466_804+651del		COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	8/34					INFO_REALIGN_3_PRIME	chr21	TogoVar
CUL4A_chr13_113204613_113272108	113232064	ACTGTCAC others(179): Show ACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCA CCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGCTGCCACCA CTACCCGCCCACCACCATTACTGCTGCCACCACTACCCGCCCACCACCAT TACTGCTGCCACCACTACCCGCCCACCACCATTACTG	A A	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0365 a0001c0001t0004g0365	1	396	0.0025	-186	c.513 others(16): Show c.513-1109_513-924del		CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19					INFO_REALIGN_3_PRIME	chr13	TogoVar
CUL4A_chr13_113204613_113272108	113232089	CATTACTG others(179): Show CATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCG CCCACCACCATTACTGCTGCCACCACTACCCGCCCACCACCATTACTGCT GCCACCACTACCCGCCCACCACCATTACTGCTGCCACCACTACCCGCCCA CCACCATTACTGCTGCCACCACTACCCGCCCACCACT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01243.hp2 others(16): Show HG01069.hp2 HG01071.hp2 HG01243.hp2 HG01891.hp2 HG02559.hp2 HG02622.hp1 HG02895.hp1 HG02922.hp2 HG03225.hp1 HG03540.hp2 NA18522.hp1 NA18941.hp2 NA18944.hp1 NA18949.hp1 NA18952.hp1 NA18962.hp2 NA18984.hp1 NA19070.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0016 a0001c0001t0001 a0001c0001t0004 a0001c0001t0016	a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0322 others(7): Show a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0004g0001 a0001c0001t0004g0012 a0001c0001t0004g0013 a0001c0001t0004g0344 a0001c0001t0004g0361 a0001c0001t0016g0362	19	396	0.0480	-186	c.513 others(16): Show c.513-1080_513-895del		CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19					INFO_REALIGN_3_PRIME	chr13	TogoVar
CYP4F12_chr19_15668087_15702174	15676675	TCATTCCT others(179): Show TCATTCCTCTGCTCACTTAGTCATTCCTCTCCTCACTCAACTCATTCCTC ACTCACTCATTCCTCTCCTCACTCACTCATTCCCCTCCTCACTCACTCAT TTCTCTCCTCACTCATTCATTCCTTTACCCACTCACTCATTCCTCTACCC ACTCACTCATTCCTCTCCTCACTCATTCCCTTCCTCC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02083.hp2 HG02109.hp2 others(3): Show HG01109.hp1 HG02083.hp2 HG02109.hp2 HG03209.hp1 NA18906.hp1 NA19006.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0002 a0001c0001t0001 a0003c0003t0002	a0001c0001t0001g0114 a0001c0001t0001g0115 a0003c0003t0002g0198 others(3): Show a0001c0001t0001g0114 a0001c0001t0001g0115 a0003c0003t0002g0198 a0003c0003t0002g0199 a0003c0003t0002g0200 a0003c0003t0002g0201	6	410	0.0146	-186	c.199 others(17): Show c.199-1578_199-1393del		CYP4F12	ENSG00000186204.15	transcript	ENST00000550308.6	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr19	TogoVar
CYTH1_chr17_78669048_78787273	78760384	TACACACA others(179): Show TACACACACATACATATATATATGTGTATATATATATATATACACATACA TATATATATGTATATATATATACATACATATATATATGTATATATATGTA TGTATATATATATACATATATATGTATATATATGTATATATATATATACA TACATATATATGTATATATATATGTATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02723.hp1 HG02895.hp2 others(8): Show HG02647.hp2 HG02723.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG03098.hp2 HG03471.hp1 HG03516.hp2 NA19240.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0009 a0001c0001t0014 others(3): Show a0001c0001t0005 a0001c0001t0009 a0001c0001t0014 a0001c0001t0015 a0001c0001t0019 a0001c0001t0025	a0001c0001t0005g0049 a0001c0001t0009g0003 a0001c0001t0009g0052 others(8): Show a0001c0001t0005g0049 a0001c0001t0009g0003 a0001c0001t0009g0052 a0001c0001t0009g0054 a0001c0001t0009g0055 a0001c0001t0009g0056 a0001c0001t0009g0057 a0001c0001t0014g0048 a0001c0001t0015g0326 a0001c0001t0019g0045 a0001c0001t0025g0050	11	378	0.0291	-186	c.22+ others(17): Show c.22+21632_22+21817del		CYTH1	ENSG00000108669.18	transcript	ENST00000446868.8	protein_coding	1/13						chr17	TogoVar
DACT2_chr6_168301904_168324777	168317424	CTGGTGCA others(179): Show CTGGTGCAAACACACAACAGCATCTCAGCAGCACCTCCCTTCCCATGTGT GTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGCAAACACACAACAGCAT CTCGGCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTG TGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0113 a0001c0001t0002g0113	1	476	0.0021	-186	c.246 others(17): Show c.246+1778_246+1963del		DACT2	ENSG00000164488.12	transcript	ENST00000366795.4	protein_coding	1/3						chr6	TogoVar
DDX51_chr12_132131594_132149319	132149133	ACTCCTAC others(179): Show ACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCAC ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTA ATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp2 HG04199.hp2 HG02015.hp2 HG04199.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0001 a0003c0003t0001g0075 a0001c0001t0001g0001 a0003c0003t0001g0075	2	334	0.0060	-186	c.-50 others(11): Show c.-5023_-4838del		DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding					4815		chr12	TogoVar
DEAF1_chr11_639233_700222	664411	CCAGCTAT others(179): Show CCAGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCACACTCGGTCACT CTGAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCA CACTCGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAG GACAGGGCGTCACACTCGGTCACTCTGAGTCCTGGCT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp1 HG00438.hp2 others(49): Show HG00140.hp1 HG00423.hp1 HG00438.hp2 HG00558.hp1 HG00673.hp1 HG00673.hp2 HG01069.hp2 HG01070.hp1 HG01074.hp1 HG01123.hp2 HG01255.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG02015.hp1 HG02071.hp2 HG02074.hp2 HG02132.hp2 HG02155.hp1 HG02273.hp1 HG02293.hp2 HG02572.hp2 HG02615.hp1 HG02717.hp2 HG02895.hp1 HG02897.hp1 HG03471.hp1 HG03490.hp1 HG03831.hp2 HG04199.hp2 HG06807.hp1 NA18747.hp1 NA18947.hp2 NA18950.hp2 NA18952.hp1 NA18954.hp1 NA18962.hp2 NA18964.hp1 NA18971.hp1 NA18971.hp2 NA18978.hp2 NA18982.hp2 NA18994.hp2 NA19005.hp2 NA19009.hp1 NA19056.hp1 NA19064.hp2 NA19065.hp1 NA19074.hp2 NA19079.hp2 NA19081.hp1 NA20905.hp1	a0001 a0001	a0001c0003 a0001c0014 a0001c0003 a0001c0014	a0001c0003t0001 a0001c0014t0001 a0001c0003t0001 a0001c0014t0001	a0001c0003t0001g0006 a0001c0003t0001g0032 a0001c0003t0001g0141 others(49): Show a0001c0003t0001g0006 a0001c0003t0001g0032 a0001c0003t0001g0141 a0001c0003t0001g0142 a0001c0003t0001g0143 a0001c0003t0001g0144 a0001c0003t0001g0145 a0001c0003t0001g0146 a0001c0003t0001g0148 a0001c0003t0001g0149 a0001c0003t0001g0150 a0001c0003t0001g0151 a0001c0003t0001g0152 a0001c0003t0001g0153 a0001c0003t0001g0155 a0001c0003t0001g0156 a0001c0003t0001g0157 a0001c0003t0001g0159 a0001c0003t0001g0160 a0001c0003t0001g0161 a0001c0003t0001g0162 a0001c0003t0001g0163 a0001c0003t0001g0164 a0001c0003t0001g0165 a0001c0003t0001g0166 a0001c0003t0001g0167 a0001c0003t0001g0168 a0001c0003t0001g0169 a0001c0003t0001g0170 a0001c0003t0001g0171 a0001c0003t0001g0172 a0001c0003t0001g0173 a0001c0003t0001g0174 a0001c0003t0001g0175 a0001c0003t0001g0176 a0001c0003t0001g0177 a0001c0003t0001g0178 a0001c0003t0001g0179 a0001c0003t0001g0180 a0001c0003t0001g0181 a0001c0003t0001g0182 a0001c0003t0001g0183 a0001c0003t0001g0184 a0001c0003t0001g0185 a0001c0003t0001g0186 a0001c0003t0001g0187 a0001c0003t0001g0188 a0001c0003t0001g0189 a0001c0003t0001g0190 a0001c0003t0001g0194 a0001c0003t0001g0310 a0001c0014t0001g0147	52	345	0.1507	-186	c.150 others(20): Show c.1503+9939_1503+10124del		DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	10/11						chr11	TogoVar
DLGAP2_chr8_732628_1713476	1642000	CCCCGCTG others(179): Show CCCCGCTGGTCCTCACCTGTGTCACCCTCGACCCTGCCGGCCCCCACCTG TGTCACCCTCGACCCCGCCGGCCCTCACCTGTGTCACCCTCGAACCCGCC GGCCCTCACCTGTGTCACCCTCGACCCTGCCGGTCCTCACCTGTGTCACC CTCGACCCCGCCGGTCCCCACCTGTGTCACCCTCCAA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp2 HG02258.hp1 HG02258.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0006 a0002c0001t0005 a0001c0003t0006 a0002c0001t0005	a0001c0003t0006g0033 a0002c0001t0005g0028 a0001c0003t0006g0033 a0002c0001t0005g0028	2	40	0.0500	-186	c.181 others(19): Show c.1810+8960_1810+9145del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	8/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1643892	ACCCGCCG others(179): Show ACCCGCCGGTCCTCACCTGTGTCACCCTCGACCCCGCCGGCCCTCACCTG TGTCACCCTCGACCCCGCCGGCCCTCACCTGTGTCACCCTCGACCCCGCC GGTCCTCACCTGTGTCACCCTCGACCCCGCCGGCCCTCACCTGTGTCACC CTCGAACCCGCCGGTCCTCACCTGTGTCACCCTCGAC	A A	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0007 a0002c0001t0007	a0002c0001t0007g0038 a0002c0001t0007g0038	1	40	0.0250	-186	c.181 others(21): Show c.1810+10904_1810+11089del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	8/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
EHMT1_chr9_137614005_137841127	137819166	GCGCCGTG others(179): Show GCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC GAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAG AGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGAG GGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01256.hp2 HG00639.hp1 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0111 a0001c0001t0001g0103 a0001c0001t0001g0111	2	170	0.0118	-186	c.354 others(19): Show c.3540+1029_3540+1214del		EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26						chr9	TogoVar
ENOSF1_chr18_665318_717630	666888	GGGAGATG others(179): Show GGGAGATGGTGATGGAGATGGTGATGGTGATGGAGATGGTGATGGTGATG GAGATGGTGATGGTGATGGAGATGGAGATGGTGATGGAGATGGAGATGGT GATGGTGATGGAGATGGTGATGGTGATGGAGATGGAGATGGTGATGGAGA TGGTGATGGTGATGGAGATGGAGATGGTGATGGTGAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0022	1	418	0.0024	-186	c.72 others(11): Show c.7231_*7416del		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding					3429		chr18	TogoVar
ENOSF1_chr18_665318_717630	666939	AGATGGTG others(179): Show AGATGGTGATGGTGATGGAGATGGAGATGGTGATGGAGATGGAGATGGTG ATGGTGATGGAGATGGTGATGGTGATGGAGATGGAGATGGTGATGGAGAT GGTGATGGTGATGGAGATGGAGATGGTGATGGTGATGGAGATGGTGATGG TGATGGAGATGGAGATGGAGATGGTGATGGTGATGGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp1 NA18948.hp2 NA18988.hp2 NA18940.hp1 NA18948.hp2 NA18988.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0138 a0001c0003t0001g0139 a0001c0003t0001g0234 a0001c0003t0001g0138 a0001c0003t0001g0139 a0001c0003t0001g0234	3	418	0.0072	-186	c.71 others(11): Show c.7180_*7365del		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding					3378		chr18	TogoVar
EPS8L1_chr19_55070869_55092923	55078254	TGGGGGTC others(179): Show TGGGGGTCTGGACTCCTGGGTCAGAGGGAAGAGGGGCTGGGGGGCTGGAC TCCTAGGTTTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGAGTCAGAG GGAAGAGGTGCTGGGGGCCTGGACTCCTGGGTCAGAGGGAAGAGGGGCTG GGGGGCTGGACTCCTGGGTCAGAGGGAAGAGGGGCTG	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0172 a0001c0001t0002g0172	1	340	0.0029	-186	c.58+ others(13): Show c.58+132_58+317del		EPS8L1	ENSG00000131037.15	transcript	ENST00000201647.11	protein_coding	3/19					INFO_REALIGN_3_PRIME	chr19	TogoVar
ERC1_chr12_986223_1500931	1079006	CAAGTCGA others(179): Show CAAGTCGATATACAGAGATACAGATAGAAATGATTTGTAATATGACAAAA GTCGATATACAGAGATACATATAGAAATGATTTGTAATATGACAAAAGTC GATATACAGAGATACATATAGAAATGATTTGTAATATGACAAGTCGATAT ACAGAGATACAGATAGAAATGATTTGTAATATGACAA	C C	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0035 a0002c0002t0035	a0002c0002t0035g0143 a0002c0002t0035g0143	1	162	0.0062	-186	c.670 others(17): Show c.670-4116_670-3931del		ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	2/18					INFO_REALIGN_3_PRIME	chr12	TogoVar
ERFL_chr19_41902704_41933449	41914709	CATCTCTG others(179): Show CATCTCTGTCTCTCCCTCCCCTTCCACCATCTCTGTCTCTCCCTCCCCTT CCACCGTCTCTGTCTCTCCCTCCCCTTCCACCGTCTCTGTCTCTCCCTCC CCCTCCACCGTGTCTCCCCCCCTTTCCACCGTCTCTGTCTCTCCCCCCCT CCACCATCTCTGTCTCTCCCTCCCCTCCATCATCTCT	C C	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	330	0.0030	-186	c.-13 others(17): Show c.-13-1963_-13-1778del		ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5						chr19	TogoVar
FAM161A_chr2_61819848_61859060	61848883	TATTTATA others(179): Show TATTTATATATATTTATATATATATTTATATATTTATATATATTTATATA TATATATTTATATATATTTATATATATATTTATATATATATATATTTATA TATTTATATATATTTATATATATATTTATATATTTATATATATTTATATA TATATTTATATATTTATATATATTTATATATATATAA	T T	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0124 a0001c0003t0001g0124	1	400	0.0025	-186	c.183 others(17): Show c.183+4790_183+4975del		FAM161A	ENSG00000170264.13	transcript	ENST00000404929.6	protein_coding	1/6						chr2	TogoVar
FLT3_chr13_27998274_28105576	28065534	CGGGAGGC others(179): Show CGGGAGGCTGAGGCAGGAGGATTGCTTGAGCCTAGGAGGTTGAGGCTGAA GTGAGCTATGTTTGTGTCACTGCACTCCAGCCTGGACAACGGAGCGAGAT CTTGTCTCAAAGTAATAATAATAATAATAATAATAATAATAATAATAATC CAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTT	C C	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0003 a0003	a0003c0035 a0003c0035	a0003c0035t0001 a0003c0035t0001	a0003c0035t0001g0203 a0003c0035t0001g0203	1	292	0.0034	-186	c.166 others(17): Show c.166-3651_166-3466del		FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding	2/23						chr13	TogoVar
FOXN3_chr14_89151177_89422233	89360985	CCTCCAGC others(179): Show CCTCCAGCACCACCTCCACCACCACCTCCACCACCACCTCCACCACCACC TCCACCACCACCACCTCCAGCACTACCTCCAGCACCACCTCCACCACCAC CACCTCCAGCACCACCACCACCACCACCTCCACCACTACCACCTCCAGCA CCACCTCCACCACCACCACCTCCAGCACTACCTCCAG	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	230	0.0044	-186	c.544 others(19): Show c.544-10363_544-10178del		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
FOXN3_chr14_89151177_89422233	89361602	TACCTCCA others(179): Show TACCTCCACCACCACCACCTCCACCACCACCTCCACCACCACCTCCACCA CCACCACCTCCAGCACCACCTCCACCACCACCTCCACCACCACCTCCACC ACTACCACCTCCAGCACTACCTCCACCACCACCACCTCCACCACCACCTC CACCACCACCTCCACCACCACCACCTCCAGCACCACC	T T	intron_variant intron_variant	MODIFIER	HG04184.hp2 NA19065.hp2 HG04184.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0146 a0001c0003t0001g0137 a0001c0001t0001g0146 a0001c0003t0001g0137	2	230	0.0087	-186	c.544 others(19): Show c.544-10980_544-10795del		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
FOXN3_chr14_89151177_89422233	89361892	CCACCTCC others(179): Show CCACCTCCACCACTACCACCTCCAGCACCACCACCTCCAGCACCACCTCC ACCACTACCACCTCCAGCACCACCTCCACCACCACCTCCACCACTACCAC CTCCAGCACCACCTCCACCACCACCTCCACCACTACCACCTCCAGCACCA CCACCTCCACCACCACCTCCACCACTACCACCTCCAG	C C	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0216 a0001c0001t0009g0216	1	230	0.0044	-186	c.544 others(19): Show c.544-11270_544-11085del		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
FOXN3_chr14_89151177_89422233	89362314	AGCACCAC others(179): Show AGCACCACCTCTACCACCACCACCTCCAGCACCACCACCACCTCCTCCTC CTCCTCCACCACCACCTCCACCACCACCACCTCCAGCACCACCACCACCT CCTCCTCCTCCACCACCACCACCACCACCTCCAGCACCAGCTCCACCACC TCCTCCTCCACCACCACCACCACCACCACCACCATCT	A A	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0088 a0001c0001t0015g0088	1	230	0.0044	-186	c.544 others(19): Show c.544-11692_544-11507del		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
GATA5_chr20_62458497_62480995	62476879	TTCTTTTT others(179): Show TTCTTTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTTTTCTTTCTCGGA GCACACCGGGTGGACCCAGGCTTGGCGGCCATGAAAGTTCTTTTTTCTTT CTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTTCCTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0001 a0004c0010t0001	a0004c0010t0001g0048 a0004c0010t0001g0048	1	382	0.0026	-186	c.-11 others(10): Show c.-1157_-972del		GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding					885		chr20	TogoVar
GNAL_chr18_11684264_11890685	11768979	TATATATT others(179): Show TATATATTCTATATTATAATATAGAATATATATATTCTATATTATAATAT ATTATATATAATATATAATATATATAATATATATTATAATATAGATTATA TAAATTATATGTAATATATATTATAATATAGATTATATAAATTATATGTA ATATATATTATAATATAGATTATATAAATTATATGTA	T T	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02055.hp2 HG02257.hp2 others(23): Show HG02004.hp1 HG02055.hp2 HG02257.hp2 HG02451.hp1 HG02622.hp1 HG02622.hp2 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03195.hp1 HG03471.hp2 HG03516.hp1 HG03669.hp1 HG06807.hp2 NA18522.hp2 NA19240.hp1 NA20300.hp1 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004	a0001c0001t0003 a0001c0001t0012 a0001c0001t0026 others(21): Show a0001c0001t0003 a0001c0001t0012 a0001c0001t0026 a0001c0001t0029 a0001c0001t0045 a0001c0001t0052 a0001c0001t0057 a0001c0001t0083 a0001c0001t0105 a0001c0001t0121 a0001c0001t0125 a0001c0001t0126 a0001c0001t0151 a0001c0001t0158 a0001c0001t0162 a0001c0001t0165 a0001c0001t0167 a0001c0001t0168 a0002c0002t0013 a0002c0002t0058 a0002c0002t0061 a0002c0002t0062 a0003c0003t0011 a0004c0004t0043	a0001c0001t0003g0017 a0001c0001t0012g0244 a0001c0001t0012g0245 others(23): Show a0001c0001t0003g0017 a0001c0001t0012g0244 a0001c0001t0012g0245 a0001c0001t0026g0134 a0001c0001t0029g0009 a0001c0001t0029g0024 a0001c0001t0045g0063 a0001c0001t0052g0246 a0001c0001t0057g0064 a0001c0001t0083g0142 a0001c0001t0105g0126 a0001c0001t0121g0145 a0001c0001t0125g0106 a0001c0001t0126g0144 a0001c0001t0151g0213 a0001c0001t0158g0019 a0001c0001t0162g0015 a0001c0001t0165g0014 a0001c0001t0167g0010 a0001c0001t0168g0031 a0002c0002t0013g0086 a0002c0002t0058g0084 a0002c0002t0061g0088 a0002c0002t0062g0085 a0003c0003t0011g0079 a0004c0004t0043g0007	26	248	0.1048	-186	c.624 others(19): Show c.624+15041_624+15226del		GNAL	ENSG00000141404.17	transcript	ENST00000334049.11	protein_coding	4/11					INFO_REALIGN_3_PRIME	chr18	TogoVar
GNAL_chr18_11747085_11890685	11768979	TATATATT others(179): Show TATATATTCTATATTATAATATAGAATATATATATTCTATATTATAATAT ATTATATATAATATATAATATATATAATATATATTATAATATAGATTATA TAAATTATATGTAATATATATTATAATATAGATTATATAAATTATATGTA ATATATATTATAATATAGATTATATAAATTATATGTA	T T	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02055.hp1 HG02257.hp1 others(23): Show HG02004.hp2 HG02055.hp1 HG02257.hp1 HG02451.hp2 HG02622.hp1 HG02622.hp2 HG02717.hp1 HG02723.hp1 HG02809.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03195.hp2 HG03471.hp2 HG03516.hp2 HG03669.hp2 HG06807.hp1 NA18522.hp2 NA19240.hp1 NA20300.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0012 others(20): Show a0001c0001t0003 a0001c0001t0009 a0001c0001t0012 a0001c0001t0020 a0001c0001t0025 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0046 a0001c0001t0086 a0001c0001t0093 a0001c0001t0100 a0001c0001t0109 a0001c0001t0114 a0001c0001t0117 a0001c0001t0118 a0001c0001t0121 a0001c0001t0122 a0001c0001t0135 a0001c0001t0136 a0001c0001t0139 a0001c0001t0154 a0001c0001t0163	a0001c0001t0003g0252 a0001c0001t0003g0263 a0001c0001t0009g0250 others(23): Show a0001c0001t0003g0252 a0001c0001t0003g0263 a0001c0001t0009g0250 a0001c0001t0012g0262 a0001c0001t0020g0070 a0001c0001t0020g0254 a0001c0001t0025g0272 a0001c0001t0042g0261 a0001c0001t0043g0206 a0001c0001t0044g0270 a0001c0001t0046g0256 a0001c0001t0046g0257 a0001c0001t0086g0269 a0001c0001t0093g0273 a0001c0001t0100g0274 a0001c0001t0109g0266 a0001c0001t0114g0265 a0001c0001t0117g0264 a0001c0001t0118g0251 a0001c0001t0121g0267 a0001c0001t0122g0268 a0001c0001t0135g0275 a0001c0001t0136g0255 a0001c0001t0139g0253 a0001c0001t0154g0232 a0001c0001t0163g0233	26	284	0.0916	-186	c.393 others(19): Show c.393+15041_393+15226del		GNAL	ENSG00000141404.17	transcript	ENST00000423027.8	protein_coding	4/11					INFO_REALIGN_3_PRIME	chr18	TogoVar
GNG12_chr1_67696475_67838467	67709877	TTTATATA others(179): Show TTTATATATATAGTTATATATATATTTTTATATAGTTATATATATAGTTA TATATATAGTTATATATATATAGTTATATATATAGTTATATATATAGTTA TATATATATAGTTATATATATAGTTATATATATAGTTATATATATAGTTA TATATATATAGTTATATATATAGTTATATATATATAG	T T	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0077 a0001c0001t0002g0077	1	274	0.0037	-186	c.-26 others(17): Show c.-26-2351_-26-2166del		GNG12	ENSG00000172380.6	transcript	ENST00000370982.4	protein_coding	2/3						chr1	TogoVar
GOLGA6L22_chr15_22453903_22474226	22466124	CGGGAGCA others(179): Show CGGGAGCAGGAGGAGAAGATACGAGAGCAGGAGGAGATGATGCAGGAACA GGAAGAGAAGATGGGGGAGCAGGAAGAGAAGATGCAAGAACAGGAGAAGA TGCGGAGGCAGGAGGAGAAGATAAGGGAGCAGGAGGAGAAGATACGGGAG CAGAAGGAGAAGATACGAGAGCAGGAGGAGAAGATAT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18973.hp2 NA18973.hp2	a0000 a0000	a0000c0028 a0000c0028	a0000c0028t0002 a0000c0028t0002	a0000c0028t0002g0006 a0000c0028t0002g0006	1	226	0.0044	-186	c.193 others(9): Show c.1938_2123del	p.Glu others(13): Show p.Glu647_Glu708del	GOLGA6L22	ENSG00000277865.6	transcript	ENST00000622895.2	protein_coding	8/9	2029/4401	1938/2565	646/854		INFO_REALIGN_3_PRIME	chr15	TogoVar
HDHD5_chr22_17132520_17164277	17146631	AGGCCTTC others(179): Show AGGCCTTCGATCACACGTCATCGCACACGCCCCACACCTGTGACGCCCTC CTGTGAGCTTACCGGCCTTCAATCACACATCATCGCACACGCCCCACACC TGTGACGCCCTCCTGTGAGCTTACCGGCCTTCAATCACACGTCATCGCAC ACGCCCCACACCTGTGACGCCCTCCTGTGAGCTTACC	A A	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	422	0.0024	-186	c.443 others(17): Show c.443+1631_444-1515del		HDHD5	ENSG00000069998.12	transcript	ENST00000336737.8	protein_coding	3/7						chr22	TogoVar
HDHD5_chr22_17132520_17164277	17146896	CCATCGCA others(179): Show CCATCGCACACGCCCCACACCTGTGACGCCCTCCTGTGAGCTTACCGGCC TTCGATCACACGCCATCGCACACGCCCCACACCTGTGACGCCCTCCTGTG AGCTTACCGGCATTCGATCACACGCCATCGCACACGCCCCACACCTGTGA CGCCCTCCTGTGAGCTTACCGGCCTTCGATCACACGT	C C	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0278 a0002c0003t0001g0278	1	422	0.0024	-186	c.443 others(17): Show c.443+1366_443+1551del		HDHD5	ENSG00000069998.12	transcript	ENST00000336737.8	protein_coding	3/7						chr22	TogoVar
HDHD5_chr22_17132520_17164277	17147007	ATTCGATC others(179): Show ATTCGATCACACGCCATCGCACACGCCCCACACCTGTGACGCCCTCCTGT GAGCTTACCGGCCTTCGATCACACGTCATCGCACACGCCCCACACCTGTG ACGCCCTCCTGTGAGCTTACCGGCCTTCGATCACACGCCATCGCACACGC CCCACACCTGTGACGCCCTCCTGTGAGCTTACCGGCC	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00735.hp1 HG01070.hp2 others(30): Show HG00642.hp1 HG00735.hp1 HG01070.hp2 HG01074.hp1 HG01109.hp1 HG01169.hp2 HG01175.hp2 HG01433.hp2 HG01517.hp1 HG02257.hp2 HG02258.hp1 HG02486.hp1 HG02622.hp2 HG02683.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02922.hp1 HG03098.hp2 HG03195.hp1 HG03471.hp1 HG03492.hp2 HG03540.hp2 HG03704.hp1 HG03704.hp2 HG04204.hp2 NA18522.hp2 NA18947.hp2 NA18966.hp2 NA18978.hp1 NA18998.hp1 NA19010.hp1 NA20752.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0007	a0001c0002 a0001c0012 a0002c0003 others(2): Show a0001c0002 a0001c0012 a0002c0003 a0006c0023 a0007c0022	a0001c0002t0001 a0001c0012t0001 a0002c0003t0001 others(3): Show a0001c0002t0001 a0001c0012t0001 a0002c0003t0001 a0002c0003t0003 a0006c0023t0001 a0007c0022t0001	a0001c0002t0001g0015 a0001c0012t0001g0220 a0002c0003t0001g0003 others(19): Show a0001c0002t0001g0015 a0001c0012t0001g0220 a0002c0003t0001g0003 a0002c0003t0001g0005 a0002c0003t0001g0013 a0002c0003t0001g0025 a0002c0003t0001g0049 a0002c0003t0001g0051 a0002c0003t0001g0249 a0002c0003t0001g0250 a0002c0003t0001g0253 a0002c0003t0001g0254 a0002c0003t0001g0255 a0002c0003t0001g0256 a0002c0003t0001g0259 a0002c0003t0001g0260 a0002c0003t0001g0265 a0002c0003t0001g0269 a0002c0003t0001g0281 a0002c0003t0003g0052 a0006c0023t0001g0267 a0007c0022t0001g0270	33	422	0.0782	-186	c.443 others(17): Show c.443+1255_443+1440del		HDHD5	ENSG00000069998.12	transcript	ENST00000336737.8	protein_coding	3/7						chr22	TogoVar
HIP1R_chr12_122830457_122867961	122850381	TGGGGGGG others(179): Show TGGGGGGGGCCCTGGTTCGGTGGCCGCTGGGTTGGGGGGCCCCCTGGTTC GGTGGCTGCTGGGTGGGGGGGCCCTGGTTCGGTGGCCGCTGGGTGGGGGG GGCCCTGGTTCGGTGGCCGCTGGGTGGGGGGGGCCCTGGTTCGGTGGCCG CTGGGTGGGGGGGCCCCCTGGTTCGGTGGCTGCTGGG	T T	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02818.hp2 HG02922.hp2 others(1): Show HG01099.hp2 HG02818.hp2 HG02922.hp2 HG03098.hp1	a0003 a0003	a0003c0003 a0003c0034 a0003c0003 a0003c0034	a0003c0003t0006 a0003c0034t0006 a0003c0003t0006 a0003c0034t0006	a0003c0003t0006g0088 a0003c0003t0006g0091 a0003c0003t0006g0092 others(1): Show a0003c0003t0006g0088 a0003c0003t0006g0091 a0003c0003t0006g0092 a0003c0034t0006g0087	4	348	0.0115	-186	c.438 others(15): Show c.438+427_439-268del		HIP1R	ENSG00000130787.14	transcript	ENST00000253083.9	protein_coding	5/31						chr12	TogoVar
HIP1R_chr12_122830457_122867961	122853359	CGGGCCCT others(179): Show CGGGCCCTGGGGGTGTCAGGGGCAGGGGAGACGGGCCCTGGGGGTGTCAG GGGCAGGGGAGACGGGCCCTGGGGGTGTCAGGGGCAGGGGAGACGGGCCC TGGGGGTGTCAGGGGCAGGGGAGACGGGCCCTGGGGGTGTCAGGGGCAGG GGAGACGGGCCCTGGGGGTGTCAGGGGCAGGGGAGAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01109.hp2 NA20129.hp2 HG00140.hp2 HG01109.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0161 a0001c0001t0001g0024 a0001c0001t0001g0161	3	348	0.0086	-186	c.578 others(15): Show c.578-671_578-486del		HIP1R	ENSG00000130787.14	transcript	ENST00000253083.9	protein_coding	7/31					INFO_REALIGN_3_PRIME	chr12	TogoVar
IRAK4_chr12_43753951_43794541	43790799	ATGGTATG others(179): Show ATGGTATGGTTTGTTATTCGTTAGTATGAAGATTACAGGTATAAGCTACC ATGAAAATCACATTGAAAATCACCTAGTTTGTGATGCATTAGTATGGTAT GGTTTGTTATTCGTTAGTATGAAGATTACAGGTATAAGCTACCATGAAAA TCACATTGAAAATCACCTAGTTTGTGATGCATTAGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG00741.hp1 HG01070.hp2 others(31): Show HG00738.hp1 HG00741.hp1 HG01070.hp2 HG01071.hp1 HG01099.hp2 HG01175.hp2 HG01255.hp1 HG01361.hp2 HG01884.hp1 HG01993.hp2 HG02027.hp1 HG02055.hp1 HG02056.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp2 HG02683.hp2 HG02723.hp1 HG02809.hp1 HG02976.hp1 HG03225.hp1 HG03453.hp2 HG03486.hp1 HG03540.hp1 NA18939.hp2 NA18940.hp1 NA18954.hp1 NA19004.hp1 NA19010.hp2 NA19043.hp1 NA19060.hp1 NA19081.hp1 NA19090.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0021 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0021 a0001c0001t0035 a0002c0002t0007 a0002c0002t0009 a0002c0002t0012 a0002c0002t0014 a0002c0002t0016 a0002c0002t0018 a0002c0002t0020 a0002c0002t0022 a0002c0002t0031	a0001c0001t0001g0001 a0001c0001t0003g0014 a0001c0001t0003g0064 others(18): Show a0001c0001t0001g0001 a0001c0001t0003g0014 a0001c0001t0003g0064 a0001c0001t0003g0144 a0001c0001t0003g0147 a0001c0001t0021g0045 a0001c0001t0035g0099 a0002c0002t0007g0008 a0002c0002t0007g0133 a0002c0002t0009g0047 a0002c0002t0009g0049 a0002c0002t0009g0152 a0002c0002t0009g0153 a0002c0002t0012g0049 a0002c0002t0014g0046 a0002c0002t0016g0044 a0002c0002t0018g0048 a0002c0002t0020g0038 a0002c0002t0020g0134 a0002c0002t0022g0039 a0002c0002t0031g0060	34	354	0.0961	-186	c.40 others(11): Show c.4085_*4270del		IRAK4	ENSG00000198001.16	transcript	ENST00000613694.5	protein_coding					1259		chr12	TogoVar
ITIH2_chr10_7698316_7754520	7737843	ATTATATA others(179): Show ATTATATATTATATTCTATATATTATATATTATATTCTATATATTATATA TTATATTCTATATATTATATATTATATTCTATATATTATATATTATATTC TATATATTATATATTATATTCTATATATTATATATTATATTCTATATATT ATATATTATATTCTATATATTATATATTATATTCTAT	A A	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03516.hp2 HG03486.hp1 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0350 a0001c0002t0001g0354 a0001c0002t0001g0350 a0001c0002t0001g0354	2	380	0.0053	-186	c.195 others(17): Show c.1958-777_1958-592del		ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20						chr10	TogoVar
KCNG2_chr18_79792938_79905100	79830694	GACAGAGC others(179): Show GACAGAGCCTTCGTCAGGAGGGTTCCCTGCAGACAGAGCCTTCGTCAGGA GGGTTCCCTGCGGACAGAGCCTTCGTCAGGAGGGTTCCCTGCGGACAGAG CCTTCGTCAGGAGGGTTCCCTGCATACAGAGCCTTCGTCAGGAGCGTTCT CTGCGGACAGAGCCTTCGTCAGGAGGGTTCCCTGCAT	G G	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0227 a0001c0005t0001g0227	1	312	0.0032	-186	c.-11 others(21): Show c.-114-25655_-114-25470del		KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG2_chr18_79792938_79905100	79830880	TACAGAGC others(179): Show TACAGAGCCTTCGTCAGGAGGGTTCCCTGCGGACAGAGCCTTCGTCAGGA GGGTTCCCTGCGGACAGAGCCTTCGTCAGGAGGGTTCCCTGCGGACAGAG CCTTCGTCAGGAGGGTTCCCTGCGGACAGAGCCTTCGTCAGGAGGGTTCC CTGCGGACAGAGCCTTCGTCAGGAGGGTTCCCTGCGG	T T	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01978.hp1 HG02293.hp1 others(9): Show HG01346.hp1 HG01978.hp1 HG02293.hp1 HG02683.hp2 HG02738.hp2 HG02818.hp2 HG02965.hp2 HG03239.hp1 HG03669.hp2 NA18966.hp2 NA19067.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 a0001c0001t0001 a0001c0003t0001 a0001c0005t0001	a0001c0001t0001g0160 a0001c0003t0001g0120 a0001c0003t0001g0122 others(9): Show a0001c0001t0001g0160 a0001c0003t0001g0120 a0001c0003t0001g0122 a0001c0003t0001g0134 a0001c0003t0001g0140 a0001c0003t0001g0149 a0001c0003t0001g0150 a0001c0003t0001g0155 a0001c0003t0001g0156 a0001c0005t0001g0009 a0001c0005t0001g0197 a0001c0005t0001g0217	12	312	0.0385	-186	c.-11 others(21): Show c.-114-25014_-114-24829del		KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr18	TogoVar
KIF26B_chr1_245149985_245714432	245673207	GCTGCGCG others(179): Show GCTGCGCGCTGCCATCTTGGGCCCAGTCCCCGAGGCCCAGTCCCCGCTGG GCGCTGCCATCTTAGGCCCAGTCCCCGCTGGGCGCTGCCATCTTAGGCCC AGTCCCCGCTGCGCGCTGCCATCTTAGGCCCAGTCCCCGCTGCGCGCTGC CATCTTAGGCCCAGTCCCCGCTGCGCGCTGCCATCTT	G G	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0035 a0001c0007t0035	a0001c0007t0035g0129 a0001c0007t0035g0129	1	160	0.0063	-186	c.225 others(21): Show c.2259-11025_2259-10840del		KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	10/14						chr1	TogoVar
LIPG_chr18_49557057_49604185	49579001	GGGGAGAG others(179): Show GGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA	G G	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02965.hp1 NA19012.hp2 HG02071.hp1 HG02965.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0096 a0001c0001t0038 a0001c0001t0096	a0001c0001t0038g0025 a0001c0001t0038g0172 a0001c0001t0096g0029 a0001c0001t0038g0025 a0001c0001t0038g0172 a0001c0001t0096g0029	3	384	0.0078	-186	c.794 others(17): Show c.794-2362_794-2177del		LIPG	ENSG00000101670.12	transcript	ENST00000261292.9	protein_coding	5/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
LMF1_chr16_848634_975984	904054	GGTGGTGA others(179): Show GGTGGTGACCTCTGCACTGCCTGTGGGGACGCCTGTCTCTGCTGTGTGGT GGTGACCTCTGCACTGCCTGTGGGGACGCCTGTCTCTGCTGCGTGGTGGT GACCTCTGCATCGCCCACAGGACGCCTGTCTCTGCTGCGTGGTGGTGACC TCTGCATCGCCCACAGGACGCCTGTCTCTGCTGCGTC	G G	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0066 a0001c0002t0001g0066	1	294	0.0034	-186	c.663 others(17): Show c.663+6691_663+6876del		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	4/10						chr16	TogoVar
LYPD8_chr1_248734415_248760759	248747121	GCCCGCAC others(179): Show GCCCGCACGGCCAGCACCCACCCAGGGCATCGCCTGCACGGCCAGCACCC ACCCAGGGCATCCCCCGCACGGCCAGCACCCACCCAGGGCATCCCCCGCA CGGCCAGCACCCACCCAGGGCATCGCCCGCACGGCCAGCACCCACCCAGG GCATCCCCCGCACGGCCAGCACCCACCCAGGGCATCC	G G	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0272 a0002c0002t0003g0272	1	374	0.0027	-186	c.337 others(16): Show c.337+982_337+1167del		LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	5/6						chr1	TogoVar
MAD1L1_chr7_1810795_2237945	1861395	TCACTGCT others(179): Show TCACTGCTCCGCCTGCCCCCTGGTTGGAGGGACACTGCTCCGCCTGCCCC CTGGTTGGAGGGACACTGCTCCGCCTGCCCCCTGGTTGGAGGGACACTGC TCCGCCTGCCCCCTGGTTGGAGGGACACTGCTCCGCCTGCCCCCTGGTTG GAGGGACACTGCTCCGCCTGCCCCCTGGTTGGAGGGA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	264	0.0038	-186	c.199 others(21): Show c.1998+36619_1998+36804del		MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	18/18						chr7	TogoVar
MAEA_chr4_1284891_1345137	1296048	TCCTCCCT others(179): Show TCCTCCCTCACCTGCTCCTCCCTCACCTGCTCCTGCACCACCTTCACGTG CGCCCCCCACCTACATCTGCACCTCACCTATGCTACCCTCACCTGTGCCC CCCCACCCGCACCTGTGCCCCCCTCACCCACGTCTGCACTGCCCTCACCT GTGCTGCCCTCACCTGTGCCCCCCACCTGTGCCTGTG	T T	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG03491.hp1 HG03492.hp2 HG02040.hp1 HG03491.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0015 a0001c0001t0009 a0001c0001t0015	a0001c0001t0009g0005 a0001c0001t0015g0171 a0001c0001t0009g0005 a0001c0001t0015g0171	3	388	0.0077	-186	c.69+ others(15): Show c.69+6069_69+6254del		MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr4	TogoVar
MAEA_chr4_1284891_1345137	1296051	TCCCTCAC others(179): Show TCCCTCACCTGCTCCTCCCTCACCTGCTCCTGCACCACCTTCACGTGCGC CCCCCACCTACATCTGCACCTCACCTATGCTACCCTCACCTGTGCCCCCC CACCCGCACCTGTGCCCCCCTCACCCACGTCTGCACTGCCCTCACCTGTG CTGCCCTCACCTGTGCCCCCCACCTGTGCCTGTGCCC	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02809.hp2 HG01167.hp2 HG02809.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0319 a0001c0006t0001g0320 a0001c0006t0001g0319 a0001c0006t0001g0320	2	388	0.0052	-186	c.69+ others(15): Show c.69+6100_69+6285del		MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr4	TogoVar
MAP3K13_chr3_185358136_185494094	185383033	CCCAGAGT others(179): Show CCCAGAGTGTGATGTTCCCCTTCCTGTGTCCATGTGTTCTCATTGTTCAA TTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTTGTTCTTGCG ATAGTTTACTGAGAATGATGATTTCCAATTTCATCCATGTCCCTACAAAG GACATGAACTCATCATTTTTTATGGCTGCATAGTATT	C C	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA19077.hp1 NA18982.hp2 NA19077.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0017 a0001c0001 a0009c0017	a0001c0001t0002 a0009c0017t0002 a0001c0001t0002 a0009c0017t0002	a0001c0001t0002g0029 a0009c0017t0002g0011 a0001c0001t0002g0029 a0009c0017t0002g0011	2	278	0.0072	-186	c.-86 others(19): Show c.-86+19669_-86+19854del		MAP3K13	ENSG00000073803.14	transcript	ENST00000265026.8	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr3	TogoVar
MEGF6_chr1_3482951_3616508	3583646	CCACAGCC others(179): Show CCACAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGA CAACGCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCAC CAGACAACCCACAGCCACAGCCACCAGACAACCCGCAGCCACCAGACAAC GCGCAGCCACCAGACAACGCGCAGCCACCAGACAACG	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00438.hp1 others(34): Show HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00621.hp1 HG01070.hp2 HG01123.hp2 HG01167.hp1 HG01256.hp1 HG01258.hp1 HG01515.hp1 HG01934.hp1 HG01993.hp2 HG02074.hp1 HG02165.hp1 HG02293.hp2 HG02965.hp2 HG03017.hp2 HG03239.hp2 HG03490.hp1 HG03492.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG04199.hp1 NA18949.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18980.hp1 NA18983.hp1 NA19004.hp2 NA19005.hp2 NA19057.hp1 NA19083.hp2	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0007 a0010 a0012 a0017 a0020 a0027 a0031 a0055 a0059 a0061	a0001c0001 a0002c0002 a0003c0003 others(12): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0007c0008 a0010c0016 a0012c0010 a0017c0012 a0020c0041 a0020c0116 a0027c0036 a0031c0044 a0055c0102 a0059c0111 a0061c0117	a0001c0001t0001 a0001c0001t0025 a0002c0002t0001 others(18): Show a0001c0001t0001 a0001c0001t0025 a0002c0002t0001 a0002c0002t0004 a0002c0002t0007 a0003c0003t0001 a0003c0003t0014 a0003c0003t0040 a0004c0004t0002 a0007c0008t0001 a0010c0016t0003 a0010c0016t0017 a0012c0010t0001 a0017c0012t0002 a0020c0041t0002 a0020c0116t0042 a0027c0036t0026 a0031c0044t0018 a0055c0102t0001 a0059c0111t0001 a0061c0117t0009	a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 others(34): Show a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0167 a0001c0001t0001g0200 a0001c0001t0025g0130 a0001c0001t0025g0131 a0002c0002t0001g0129 a0002c0002t0001g0136 a0002c0002t0004g0138 a0002c0002t0004g0210 a0002c0002t0007g0197 a0003c0003t0001g0014 a0003c0003t0001g0016 a0003c0003t0001g0160 a0003c0003t0001g0165 a0003c0003t0001g0194 a0003c0003t0014g0184 a0003c0003t0014g0185 a0003c0003t0040g0171 a0004c0004t0002g0157 a0007c0008t0001g0063 a0007c0008t0001g0154 a0010c0016t0003g0180 a0010c0016t0003g0182 a0010c0016t0017g0181 a0012c0010t0001g0163 a0012c0010t0001g0164 a0017c0012t0002g0220 a0020c0041t0002g0111 a0020c0116t0042g0155 a0027c0036t0026g0245 a0031c0044t0018g0145 a0031c0044t0018g0193 a0055c0102t0001g0115 a0059c0111t0001g0139 a0061c0117t0009g0012	37	292	0.1267	-186	c.377 others(17): Show c.377-3903_377-3718del		MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36						chr1	TogoVar
METAP1D_chr2_171994953_172087430	172042561	GTGCACAT others(179): Show GTGCACATATATACATATATGTGTGTATGTGTACATGTGCACATATATAC ATATATGTGTGTATGTGTACACATATACATATGTGTGTATGTGTATATGT GTACACATATACGTGTGTATGTGTATATGTGTACACATATACGTGTGTGT GTGTATATGTGTACACATATACGTGTGTGTGTGTATA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0151 a0001c0001t0004g0151	1	356	0.0028	-186	c.41- others(17): Show c.41-18934_41-18749del		METAP1D	ENSG00000172878.14	transcript	ENST00000315796.5	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr2	TogoVar

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