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
NOTCH1_chr9_136489433_136551048	136535807	A A	AGGGGCAA others(101): Show AGGGGCAATGGGTGCAGGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGA TCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTGGGGGGGAGCACTCAGGA TCCCTCCCG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0006 a0006	a0006c0050 a0006c0050	a0006c0050t0023 a0006c0050t0023	a0006c0050t0023g0134 a0006c0050t0023g0134	1	324	0.0031	108	c.140 others(125): Show c.140+8216_140+8217insCGGGAGGGATCCTGAGTGCTCCCCCCCA CCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCTC CACCCACTCCCACCCTGCACCCATTGCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535807	A A	AGGGGCAA others(101): Show AGGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGATCACTCAGGATCCCTC CCGGGGCAATGGGTGCAGGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGG ATCCCTCCC	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG03927.hp1 NA18747.hp2 others(1): Show HG02080.hp2 HG03927.hp1 NA18747.hp2 NA18967.hp2	a0001 a0022 a0001 a0022	a0001c0001 a0022c0061 a0001c0001 a0022c0061	a0001c0001t0004 a0022c0061t0002 a0001c0001t0004 a0022c0061t0002	a0001c0001t0004g0047 a0001c0001t0004g0064 a0001c0001t0004g0142 others(1): Show a0001c0001t0004g0047 a0001c0001t0004g0064 a0001c0001t0004g0142 a0022c0061t0002g0049	4	324	0.0124	108	c.140 others(125): Show c.140+8216_140+8217insGGGAGGGATCCTGAGTGCTCCCCCCTCC ACCCACTCCCACCCTGCACCCATTGCCCCGGGAGGGATCCTGAGTGATCC CCCCTCCACCCACCCTGCACCCATTGCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535933	G G	GGTGGGTG others(101): Show GGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGC AGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGC AGGGTGGGA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp2 HG00609.hp2 others(5): Show HG00438.hp1 HG00597.hp2 HG00609.hp2 HG02083.hp1 HG02129.hp2 HG02523.hp1 NA18950.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0011	a0001c0001t0001g0213 a0001c0001t0003g0211 a0001c0001t0003g0311 others(5): Show a0001c0001t0001g0213 a0001c0001t0003g0211 a0001c0001t0003g0311 a0001c0001t0007g0197 a0001c0001t0007g0214 a0001c0001t0007g0215 a0001c0001t0007g0216 a0001c0001t0011g0153	8	324	0.0247	108	c.140 others(125): Show c.140+8090_140+8091insTCCCACCCTGCACCCATTGCCCCTGGGA GGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTGGGA GGGATCCTGAGTGCTCCCCCCTCCACCCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NPHP3_chr3_132675609_132727409	132722759	G G	GCGGGGCA others(101): Show GCGGGGCAGCGGAACGGGACGGGGCAGCGGAACGGGACGGGGCAGCGGAA CGGGACGGGGCAGCGGAACGGGACGGGGCAGCGGAACGGGACGGGGCAGC GGAACGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp1 HG02896.hp2 HG02897.hp2 others(3): Show HG02083.hp1 HG02896.hp2 HG02897.hp2 HG06807.hp1 NA18964.hp2 NA18968.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0001c0003 a0003c0009 a0001c0002 a0001c0003 a0003c0009	a0001c0002t0002 a0001c0003t0001 a0003c0009t0001 a0001c0002t0002 a0001c0003t0001 a0003c0009t0001	a0001c0002t0002g0235 a0001c0003t0001g0011 a0001c0003t0001g0213 others(2): Show a0001c0002t0002g0235 a0001c0003t0001g0011 a0001c0003t0001g0213 a0001c0003t0001g0228 a0003c0009t0001g0017	6	342	0.0175	108	c.-40 others(117): Show c.-405_-404insTCCCGTTCCGCTGCCCCGTCCCGTTCCGCTGCCCCG TCCCGTTCCGCTGCCCCGTCCCGTTCCGCTGCCCCGTCCCGTTCCGCTGC CCCGTCCCGTTCCGCTGCCCCG	NPHP3	ENSG00000113971.21	transcript	ENST00000337331.10	protein_coding		351		chr3	TogoVar
NTSR1_chr20_62703836_62767771	62755465	C C	CATCCATC others(101): Show CATCCATCCTCCCTCCCTCTCTCCATCCCTCATTCCATCCCTCCCTCTCT CCCTCCCTCCATTCATCCATCCATTGTCCCTCCCTCCCTCCATCCATCCT CCCTCCTCT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02615.hp2 HG01346.hp1 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0192 a0001c0001t0001g0193	2	316	0.0063	108	c.916 others(123): Show c.916+579_916+580insATCCATCCTCCCTCCCTCTCTCCATCCCTC ATTCCATCCCTCCCTCTCTCCCTCCCTCCATTCATCCATCCATTGTCCCT CCCTCCCTCCATCCATCCTCCCTCCTCT	NTSR1	ENSG00000101188.5	transcript	ENST00000370501.4	protein_coding	2/3			chr20	TogoVar
NTS_chr12_85869295_85887992	85879256	A A	ATATTTTA others(101): Show ATATTTTATGTACGTAAAATATATTTTTATATATATTTTATGTACGTAAA ATATATTTATATATATATTTTATGTACGTAAAATATATTTATATATATAT TTTATGTAT	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA19081.hp2 NA19086.hp2 NA18940.hp1 NA19081.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106	3	420	0.0071	108	c.360 others(123): Show c.360+687_360+688insTATTTTATGTACGTAAAATATATTTTTATA TATATTTTATGTACGTAAAATATATTTATATATATATTTTATGTACGTAA AATATATTTATATATATATTTTATGTAT	NTS	ENSG00000133636.11	transcript	ENST00000256010.7	protein_coding	3/3			chr12	TogoVar
NTS_chr12_85869295_85887992	85879256	A A	ATTTTATG others(101): Show ATTTTATGTACGTAAAATATATTTTTATATATATTTTATGTACGTAAAAT ATATTTATATATATATATTTTATGTATATAAAATATATTTATATATATAT TTTATGTAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	420	0.0024	108	c.360 others(123): Show c.360+687_360+688insTTTTATGTACGTAAAATATATTTTTATATA TATTTTATGTACGTAAAATATATTTATATATATATATTTTATGTATATAA AATATATTTATATATATATTTTATGTAT	NTS	ENSG00000133636.11	transcript	ENST00000256010.7	protein_coding	3/3			chr12	TogoVar
NXN_chr17_794310_984776	809954	T T	TGTGAGTG others(101): Show TGTGAGTGGCGTGCACGTTACGAGTCTGTGAGTGGCGTGCACGTTACGAG TCCGTATGAGCGGCGGGCACCTTACGAGTCCGTGTGAGCGGCGGGCACGT TACGAGCCA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02965.hp1 NA18939.hp2 HG02071.hp2 HG02965.hp1 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0025 a0001c0001t0030 a0001c0001t0003 a0001c0001t0025 a0001c0001t0030	a0001c0001t0003g0180 a0001c0001t0025g0200 a0001c0001t0030g0237 a0001c0001t0003g0180 a0001c0001t0025g0200 a0001c0001t0030g0237	3	242	0.0124	108	c.821 others(125): Show c.821-4708_821-4707insTGGCTCGTAACGTGCCCGCCGCTCACAC GGACTCGTAAGGTGCCCGCCGCTCATACGGACTCGTAACGTGCACGCCAC TCACAGACTCGTAACGTGCACGCCACTCAC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	5/7			chr17	TogoVar
OBI1_chr13_78609289_78664155	78659312	A A	AAAAAAAA others(101): Show AAAAAAAAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	296	0.0034	108	c.-19 others(117): Show c.-193_-192insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTTTTTTTTT	OBI1	ENSG00000152193.8	transcript	ENST00000282003.7	protein_coding		158		chr13	TogoVar
OBI1_chr13_78609289_78664155	78659323	A A	AGAAAGAA others(101): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG03579.hp2 HG02145.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0095 a0001c0001t0002g0208 a0001c0001t0001g0095 a0001c0001t0002g0208	2	296	0.0068	108	c.-20 others(117): Show c.-204_-203insCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTC	OBI1	ENSG00000152193.8	transcript	ENST00000282003.7	protein_coding		169		chr13	TogoVar
ONECUT3_chr19_1748506_1785988	1768905	G G	GTGGAGGT others(101): Show GTGGAGGTGGTGGAGGTGAAGGTGGAGGTGGTGGAGGTGAAGGTGGAGGA GGTAGAGGTAGAGGTGCTGGAGGTGGACGTAATGGAGGTGGAAGTGGAGG TGGAGGTGA	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0223 a0001c0001t0223	a0001c0001t0223g0092 a0001c0001t0223g0092	1	370	0.0027	108	c.119 others(127): Show c.1193-6239_1193-6238insTGGAGGTGAAGGTGGAGGTGGTGGAG GTGAAGGTGGAGGAGGTAGAGGTAGAGGTGCTGGAGGTGGACGTAATGGA GGTGGAAGTGGAGGTGGAGGTGATGGAGGTGG	ONECUT3	ENSG00000205922.5	transcript	ENST00000382349.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr19	TogoVar
ONECUT3_chr19_1748506_1785988	1768905	G G	GTGGAGGT others(101): Show GTGGAGGTGGTGGAGGTGAAGGTGGAGGTGGTGGAGGTGAAGGTGGAGGA GGTAGAGGTAGAGGTGCTGGAGGTGGAGGTAATGGAGGTGGAAGTGGAGG TGGAGGTGA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00597.hp2 others(57): Show HG00323.hp1 HG00408.hp1 HG00597.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG01070.hp2 HG01168.hp1 HG01175.hp2 HG01192.hp2 HG01261.hp1 HG01358.hp2 HG01433.hp2 HG01928.hp1 HG01943.hp1 HG01975.hp1 HG02055.hp2 HG02074.hp1 HG02135.hp2 HG02155.hp1 HG02280.hp1 HG02486.hp2 HG02602.hp1 HG02738.hp2 HG02818.hp2 HG02922.hp2 HG02965.hp2 HG03017.hp1 HG03098.hp1 HG03209.hp1 HG03486.hp1 HG03710.hp2 HG04199.hp2 HG04204.hp2 NA18940.hp2 NA18946.hp2 NA18947.hp1 NA18952.hp1 NA18957.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18980.hp1 NA18982.hp1 NA18983.hp2 NA18985.hp2 NA19000.hp1 NA19004.hp2 NA19009.hp2 NA19043.hp1 NA19043.hp2 NA19058.hp1 NA19068.hp1 NA19068.hp2 NA19088.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0012 a0013 a0015	a0001c0001 a0001c0005 a0001c0009 others(6): Show a0001c0001 a0001c0005 a0001c0009 a0002c0002 a0003c0003 a0005c0008 a0012c0015 a0013c0014 a0015c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(44): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0021 a0001c0001t0022 a0001c0001t0104 a0001c0001t0105 a0001c0001t0122 a0001c0001t0125 a0001c0001t0126 a0001c0001t0131 a0001c0001t0133 a0001c0001t0137 a0001c0001t0138 a0001c0001t0141 a0001c0001t0142 a0001c0001t0144 a0001c0001t0146 a0001c0001t0147 a0001c0001t0148 a0001c0001t0177 a0001c0001t0179 a0001c0001t0188 a0001c0001t0248 a0001c0001t0249 a0001c0001t0251 a0001c0001t0252 a0001c0001t0253 a0001c0001t0263 a0001c0001t0298 a0001c0005t0149 a0001c0005t0150 a0001c0005t0156 a0001c0005t0174 a0001c0009t0192 a0002c0002t0006 a0002c0002t0124 a0002c0002t0139 a0002c0002t0247 a0003c0003t0135 a0003c0003t0143 a0003c0003t0226 a0005c0008t0129 a0005c0008t0175 a0012c0015t0006 a0013c0014t0002 a0015c0012t0002	a0001c0001t0001g0023 a0001c0001t0001g0032 a0001c0001t0001g0033 others(57): Show a0001c0001t0001g0023 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0065 a0001c0001t0001g0107 a0001c0001t0001g0237 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0002g0227 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0006g0044 a0001c0001t0006g0158 a0001c0001t0021g0146 a0001c0001t0021g0244 a0001c0001t0022g0040 a0001c0001t0022g0120 a0001c0001t0104g0056 a0001c0001t0105g0330 a0001c0001t0122g0116 a0001c0001t0125g0075 a0001c0001t0126g0095 a0001c0001t0131g0043 a0001c0001t0133g0152 a0001c0001t0137g0096 a0001c0001t0138g0080 a0001c0001t0141g0287 a0001c0001t0142g0222 a0001c0001t0144g0005 a0001c0001t0146g0030 a0001c0001t0147g0028 a0001c0001t0148g0166 a0001c0001t0177g0102 a0001c0001t0179g0153 a0001c0001t0188g0015 a0001c0001t0248g0199 a0001c0001t0249g0350 a0001c0001t0251g0198 a0001c0001t0252g0195 a0001c0001t0253g0200 a0001c0001t0263g0194 a0001c0001t0298g0318 a0001c0005t0149g0332 a0001c0005t0150g0334 a0001c0005t0156g0331 a0001c0005t0174g0347 a0001c0009t0192g0121 a0002c0002t0006g0165 a0002c0002t0124g0150 a0002c0002t0139g0279 a0002c0002t0247g0202 a0003c0003t0135g0005 a0003c0003t0143g0097 a0003c0003t0226g0207 a0005c0008t0129g0252 a0005c0008t0175g0157 a0012c0015t0006g0119 a0013c0014t0002g0204 a0015c0012t0002g0224	60	370	0.1622	108	c.119 others(127): Show c.1193-6239_1193-6238insTGGAGGTGAAGGTGGAGGTGGTGGAG GTGAAGGTGGAGGAGGTAGAGGTAGAGGTGCTGGAGGTGGAGGTAATGGA GGTGGAAGTGGAGGTGGAGGTGATGGAGGTGG	ONECUT3	ENSG00000205922.5	transcript	ENST00000382349.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr19	TogoVar
OPRL1_chr20_64075082_64105633	64088545	C C	CAGGGAGG others(101): Show CAGGGAGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCC AGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTG CAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0011 a0001c0003t0004g0011	1	66	0.0152	108	c.-18 others(127): Show c.-184-3421_-184-3420insAGGGAGGCCAGGATCTGTGCAGAGTG GCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCT GTGCAGAGTGGCCAGGATCTGTGCAGGGAGGG	OPRL1	ENSG00000125510.18	transcript	ENST00000336866.7	protein_coding	1/4			chr20	TogoVar
OPRL1_chr20_64075082_64105633	64094207	G G	GGCAGTGT others(101): Show GGCAGTGTGGGGGTCAGTGTGGGGGCAGTGTGGGGGCAGTGTGTGGGTCA GTGTGGGGGGCAGTGTGGGGGGCAGTGTGTGGGTCAGTGTGCGGGCAGTG TGTGGGGGT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp2 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0010 a0001c0007t0010 a0001c0001t0010 a0001c0007t0010	a0001c0001t0010g0036 a0001c0007t0010g0052 a0001c0001t0010g0036 a0001c0007t0010g0052	2	66	0.0303	108	c.233 others(125): Show c.233+1254_233+1255insGCAGTGTGGGGGTCAGTGTGGGGGCAGT GTGGGGGCAGTGTGTGGGTCAGTGTGGGGGGCAGTGTGGGGGGCAGTGTG TGGGTCAGTGTGCGGGCAGTGTGTGGGGGT	OPRL1	ENSG00000125510.18	transcript	ENST00000336866.7	protein_coding	3/4			chr20	TogoVar
OPRL1_chr20_64075082_64105633	64094505	G G	GGGGGCAG others(101): Show GGGGGCAGTGTGTGGGGGGCAGTGTGCGGGCAGTGTGTGGGGGGCAGTGT GGGGGGCAGTGTGGGGGCAGTGTGGGGGGCAGTGTGGGGGGCAGTGTGGG GGTCAGTGT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG03490.hp2 HG03492.hp2 others(1): Show HG01433.hp2 HG03490.hp2 HG03492.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0008 a0001c0001t0002g0048 a0001c0001t0002g0049	4	66	0.0606	108	c.233 others(125): Show c.233+1556_233+1557insCAGTGTGTGGGGGGCAGTGTGCGGGCAG TGTGTGGGGGGCAGTGTGGGGGGCAGTGTGGGGGCAGTGTGGGGGGCAGT GTGGGGGGCAGTGTGGGGGTCAGTGTGGGG	OPRL1	ENSG00000125510.18	transcript	ENST00000336866.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
OPTN_chr10_13095163_13143308	13115253	T T	TTATATCT others(101): Show TTATATCTATATTTATATCTATATTTATATATATTTATAAATATAGATAT ATCTATATTTATATATATATAAATATAGATATATCTATATTTATATATAT AAATATAGA	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0037 a0001c0001t0005g0037	1	418	0.0024	108	c.553 others(123): Show c.553-997_553-996insCTATATTTATATATATTTATAAATATAGAT ATATCTATATTTATATATATATAAATATAGATATATCTATATTTATATAT ATAAATATAGATATATCTATATTTATAT	OPTN	ENSG00000123240.17	transcript	ENST00000378747.8	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
OR1L3_chr9_122670130_122681104	122679111	A A	ATATATTA others(101): Show ATATATTATATATAACATATATTATATAATATATATTATATATAATATAT ATTATATAATATATGTTATATATAACACTATATTATATAATATATATTAT ATATAACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	1	380	0.0026	108	c.30 others(119): Show c.3007_*3008insTATATTATATATAACATATATTATATAATATATA TTATATATAATATATATTATATAATATATGTTATATATAACACTATATTA TATAATATATATTATATATAACAC	OR1L3	ENSG00000171481.5	transcript	ENST00000304820.5	protein_coding		3008		chr9	TogoVar
OSGIN1_chr16_83948240_83971332	83950544	C C	CACATGCA others(101): Show CACATGCACACATGAGCACATGTGCACACATGCACATACATACTGGCACA CACGTACATGCACACATGAGCACATGTGCACACATGCACATACATACTGG CACACACGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0132 a0001c0002t0004g0132	1	350	0.0029	108	c.-28 others(119): Show c.-2859_-2858insACATGCACACATGAGCACATGTGCACACATGCAC ATACATACTGGCACACACGTACATGCACACATGAGCACATGTGCACACAT GCACATACATACTGGCACACACGT	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		2695		chr16	TogoVar
OSGIN1_chr16_83948240_83971332	83950696	C C	CACATGCA others(101): Show CACATGCACACATGAGCACATGTGCACACATGCACATACATACTGGCACA CACGTACATGCACACATGAGCACATGTGCACACATGCACATACATACTGG CACACACGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02273.hp2 HG04228.hp1 NA18969.hp2 HG02273.hp2 HG04228.hp1 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0053 a0001c0001t0001g0109 a0001c0001t0001g0111	3	350	0.0086	108	c.-27 others(119): Show c.-2707_-2706insACATGCACACATGAGCACATGTGCACACATGCAC ATACATACTGGCACACACGTACATGCACACATGAGCACATGTGCACACAT GCACATACATACTGGCACACACGT	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		2543		chr16	TogoVar
OTOG_chr11_17542259_17651044	17552528	C C	CTCCCCCA others(101): Show CTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTC CTGTGTCCCCCACCTGTACTGTGTCCCCCACCTGTCCTGTGTCTCCCACC TGTCCTGTG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0130 a0130	a0130c0040 a0130c0040	a0130c0040t0002 a0130c0040t0002	a0130c0040t0002g0046 a0130c0040t0002g0046	1	268	0.0037	108	c.292 others(123): Show c.292+509_292+510insCCCCACCTGTACTGTGTCCCCCACCTGTCC TGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCT GTCCTGTGTCCCCCACCTGTCCTGTGTC	OTOG	ENSG00000188162.12	transcript	ENST00000399397.6	protein_coding	4/55		INFO_REALIGN_3_PRIME	chr11	TogoVar
P2RY8_chrX_1457581_1542185	1534105	T T	TAATATAT others(101): Show TAATATATTTACATATATATTTATATATAATATATTTACATATATTATAT ATTTATATATATTTACATATATTATATATTTATATATATTTACATATATA TTTATATAC	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0002 a0001c0003t0011g0002	1	114	0.0088	108	c.-25 others(125): Show c.-25+2815_-25+2816insGTATATAAATATATATGTAAATATATAT AAATATATAATATATGTAAATATATATAAATATATAATATATGTAAATAT ATTATATATAAATATATATGTAAATATATT	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1			chrX	TogoVar
PANX1_chr11_94123841_94186968	94137866	C C	CTATCTTG others(101): Show CTATCTTGGTCTGTTTTCCCCCAGGATAGATACATATATATATATATATA TATATATATATATATATATATATATATATATATATATATACAGTAACTTT TAAAAAGTT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0204 a0001c0001t0002g0204	1	408	0.0025	108	c.181 others(125): Show c.181+8374_181+8375insATCTTGGTCTGTTTTCCCCCAGGATAGA TACATATATATATATATATATATATATATATATATATATATATATATATA TATATATATACAGTAACTTTTAAAAAGTTT	PANX1	ENSG00000110218.9	transcript	ENST00000227638.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
PANX1_chr11_94123841_94186968	94137866	C C	CTATCTTG others(101): Show CTATCTTGGTCTGTTTTCCCCCAGGATAGATAGATAGATAGATATATATA TATATATATATATATATATATATATATATATATATATATACAGTAACTTT TAAAAAGTT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02148.hp1 HG00673.hp2 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0109 a0001c0001t0002g0330 a0001c0001t0002g0109 a0001c0001t0002g0330	2	408	0.0049	108	c.181 others(125): Show c.181+8374_181+8375insATCTTGGTCTGTTTTCCCCCAGGATAGA TAGATAGATAGATATATATATATATATATATATATATATATATATATATA TATATATATACAGTAACTTTTAAAAAGTTT	PANX1	ENSG00000110218.9	transcript	ENST00000227638.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
PANX1_chr11_94123841_94186968	94137866	C C	CTATCTTG others(101): Show CTATCTTGGTCTGTTTTCCCCCAGGATAGATATATATATATATATATATA TATATATATATATATATATATATATATATATATATACATACAGTAACTTT TAAAAAGTT	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA19079.hp2 NA18999.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0025 a0001c0001t0001 a0001c0001t0025	a0001c0001t0001g0047 a0001c0001t0025g0175 a0001c0001t0001g0047 a0001c0001t0025g0175	2	408	0.0049	108	c.181 others(125): Show c.181+8374_181+8375insATCTTGGTCTGTTTTCCCCCAGGATAGA TATATATATATATATATATATATATATATATATATATATATATATATATA TATATACATACAGTAACTTTTAAAAAGTTT	PANX1	ENSG00000110218.9	transcript	ENST00000227638.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
PANX1_chr11_94123841_94186968	94137866	C C	CTATCTTG others(101): Show CTATCTTGGTCTGTTTTCCCCCAGGATAGATATATATATATATATATATA TATATATATATATATATATATATATATATATATATATATACAGTAACTTT TAAAAAGTT	intron_variant intron_variant	MODIFIER	HG04184.hp2 NA18947.hp1 NA19088.hp1 HG04184.hp2 NA18947.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0217 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0217	3	408	0.0074	108	c.181 others(125): Show c.181+8374_181+8375insATCTTGGTCTGTTTTCCCCCAGGATAGA TATATATATATATATATATATATATATATATATATATATATATATATATA TATATATATACAGTAACTTTTAAAAAGTTT	PANX1	ENSG00000110218.9	transcript	ENST00000227638.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
PARVG_chr22_44175925_44213469	44198940	A A	ATCCATCC others(101): Show ATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCACCCAT CCACCCACCCACCCATCCATCCATCCATCCACCCACCCACCCACCCGTCC GTCCGTCCG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0075 a0001c0001t0003g0075	1	422	0.0024	108	c.813 others(123): Show c.813+218_813+219insTCCATCCATCCATCCATCCATCCACCCACC CACCCACCCACCCACCCATCCACCCACCCACCCATCCATCCATCCATCCA CCCACCCACCCACCCGTCCGTCCGTCCG	PARVG	ENSG00000138964.17	transcript	ENST00000444313.8	protein_coding	12/13			chr22	TogoVar
PARVG_chr22_44175925_44213469	44198944	A A	ATCCATCC others(101): Show ATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCACCCAT CCACCCACCCACCCATCCATCCATCCATCCACCCACCCACCCACCCGTCC GTCCGTCCG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02135.hp1 HG02602.hp1 others(4): Show HG01884.hp2 HG02135.hp1 HG02602.hp1 HG03017.hp1 HG03669.hp2 HG03831.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0012 a0001c0001t0015 others(1): Show a0001c0001t0003 a0001c0001t0012 a0001c0001t0015 a0001c0002t0001	a0001c0001t0003g0142 a0001c0001t0003g0144 a0001c0001t0003g0171 others(4): Show a0001c0001t0003g0142 a0001c0001t0003g0144 a0001c0001t0003g0171 a0001c0001t0003g0285 a0001c0001t0012g0120 a0001c0001t0015g0218 a0001c0002t0001g0204	7	422	0.0166	108	c.813 others(123): Show c.813+222_813+223insTCCATCCATCCATCCATCCATCCACCCACC CACCCACCCACCCACCCATCCACCCACCCACCCATCCATCCATCCATCCA CCCACCCACCCACCCGTCCGTCCGTCCG	PARVG	ENSG00000138964.17	transcript	ENST00000444313.8	protein_coding	12/13			chr22	TogoVar
PARVG_chr22_44175925_44213469	44198945	C C	CCCATCCA others(101): Show CCCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCACC CATCCACCCACCCACCCACCCACCCACCCATCCACCCACCCACCCACCCA CCCACCCAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0341 a0001c0001t0029g0341	1	422	0.0024	108	c.813 others(123): Show c.813+250_813+251insCCCACCCACCCACCCACCCACCCATCCACC CACCCACCCACCCACCCACCCATCCACCCACCCACCCACCCACCCACCCA TCCATCCATCCATCCATCCATCCATCCA	PARVG	ENSG00000138964.17	transcript	ENST00000444313.8	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr22	TogoVar
PARVG_chr22_44175925_44213469	44198945	C C	CCCATCCA others(101): Show CCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACCCACC CACCCACCCACCCACCCACCCATCCACCCACCCACCCACCCACCCACCCA CCCACCCAT	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0217 a0001c0002t0001g0217	1	422	0.0024	108	c.813 others(123): Show c.813+266_813+267insCCCACCCACCCACCCACCCACCCACCCATC CACCCACCCACCCACCCACCCACCCACCCACCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCA	PARVG	ENSG00000138964.17	transcript	ENST00000444313.8	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr22	TogoVar
PARVG_chr22_44175925_44213469	44198945	C C	CCCATCCA others(101): Show CCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACCCACC CACCCACCCATCCACCCACCCACCCACCCACCCATCCACCCACCCACCCA CCCACCCAT	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0326 a0001c0002t0001g0326	1	422	0.0024	108	c.813 others(123): Show c.813+266_813+267insCCCACCCACCCACCCATCCACCCACCCACC CACCCACCCATCCACCCACCCACCCACCCACCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCA	PARVG	ENSG00000138964.17	transcript	ENST00000444313.8	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr22	TogoVar
PARVG_chr22_44175925_44213469	44198945	C C	CCCATCCA others(101): Show CCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACC CACCCACCCACCCACCCACCCACCCATCCACCCACCCACCCACCCACCCA TCCATCCAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0262 a0001c0001t0010g0262	1	422	0.0024	108	c.813 others(123): Show c.813+268_813+269insCACCCACCCACCCACCCACCCACCCACCCA TCCACCCACCCACCCACCCACCCATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCATCCATCCATC	PARVG	ENSG00000138964.17	transcript	ENST00000444313.8	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr22	TogoVar
PCDH15_chr10_53797771_54806231	54332245	T T	TATATAAT others(101): Show TATATAATCTATATTATATATTATTATATATAATATAATATAATCTATAT TATATATTATTATATATAATATAATATAATCTATATTACATATTATTATA TATAATATA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0098 a0001c0001t0003g0098	1	102	0.0098	108	c.595 others(125): Show c.595-2540_595-2539insTATATTATATATAATAATATGTAATATA GATTATATTATATTATATATAATAATATATAATATAGATTATATTATATT ATATATAATAATATATAATATAGATTATAT	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	6/37			chr10	TogoVar
PCDH15_chr10_53816099_54806231	54332245	T T	TATATAAT others(101): Show TATATAATCTATATTATATATTATTATATATAATATAATATAATCTATAT TATATATTATTATATATAATATAATATAATCTATATTACATATTATTATA TATAATATA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0090 a0001c0007t0001g0090	1	94	0.0106	108	c.595 others(125): Show c.595-2540_595-2539insTATATTATATATAATAATATGTAATATA GATTATATTATATTATATATAATAATATATAATATAGATTATATTATATT ATATATAATAATATATAATATAGATTATAT	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	6/32			chr10	TogoVar
PCGF3_chr4_700832_775089	758973	C C	CTCCGGAC others(101): Show CTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCCTCTCCCGAGTTCTT CTCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGGGCCCCTCTCCCGAGT TGTTCTCCT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	366	0.0027	108	c.463 others(125): Show c.463-2272_463-2271insCTCTCCCGAGTTCTTCTCCTTCCGGACT CCGGGTCTTTCTCCCCGCGCGGGCCCCTCTCCCGAGTTGTTCTCCTTCCG GACTCCGGGTCTTTCTCCCCGCGCGGCCCC	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCLO_chr7_82749012_83167884	82999547	A A	ATATTATA others(101): Show ATATTATATATAAAATATAAAATATAATATGTAATATTAAATATAAAATA TAATATGTAATATTAAATATAAAATATAATATGTAATATTAAATATAAAA TATAATATG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0033 a0033	a0033c0048 a0033c0048	a0033c0048t0005 a0033c0048t0005	a0033c0048t0005g0074 a0033c0048t0005g0074	1	188	0.0053	108	c.330 others(129): Show c.3301-33061_3301-33060insCATATTATATTTTATATTTAATAT TACATATTATATTTTATATTTAATATTACATATTATATTTTATATTTAAT ATTACATATTATATTTTATATTTTATATATAATA	PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	3/24			chr7	TogoVar
PCNX1_chr14_70902459_71120382	70910178	T T	TCCTCCCC others(101): Show TCCTCCCCCTCCTCCCCCTCCCCCTCCTCCCCCTCCTCCCCCTCCCCCTC CTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCC CCTCCTCCC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0031 a0001c0013t0031	a0001c0013t0031g0348 a0001c0013t0031g0348	1	352	0.0028	108	c.153 others(125): Show c.153+2180_153+2181insCCCTCCTCCCCCTCCCCCTCCTCCCCCT CCTCCCCCTCCCCCTCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCC TCCTCCTCCCCCTCCCCCTCCTCCCCCTCC	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr14	TogoVar
PCYT1A_chr3_196229368_196292726	196249799	C C	CGAGGCTG others(101): Show CGAGGCTGAGGACCAGATACACTATGCTGAGGCTGAGGATCAGATACACT ATGCTGAGGTTGAGGACCAGATACACTATGCTGAGGCTGAGGACCAGATA CACTATGCT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0288 a0001c0001t0035g0288	1	310	0.0032	108	c.218 others(125): Show c.218-1477_218-1476insAGCATAGTGTATCTGGTCCTCAGCCTCA GCATAGTGTATCTGGTCCTCAACCTCAGCATAGTGTATCTGATCCTCAGC CTCAGCATAGTGTATCTGGTCCTCAGCCTC	PCYT1A	ENSG00000161217.12	transcript	ENST00000431016.6	protein_coding	3/8			chr3	TogoVar
PDE4D_chr5_58964038_59898726	59172106	A A	ATATTTAT others(101): Show ATATTTATATAATAAATATATATTATATATTTATATAATAAATATATATT ATATATTTATATAATAAATATATATTATATATTTATATAATAAATATATA ATATATATT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0066 a0001c0001t0015g0066	1	74	0.0135	108	c.808 others(125): Show c.808+8488_808+8489insAATATATATTATATATTTATTATATAAA TATATAATATATATTTATTATATAAATATATAATATATATTTATTATATA AATATATAATATATATTTATTATATAAATA	PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	5/14			chr5	TogoVar
PDE9A_chr21_42648621_42780509	42769691	C C	CACATGCA others(101): Show CACATGCACACCGGTACACACAGGCACACACTCGTGCACACGTACACAGG CATACAAATGCACACGCAGGCACACACAGGTACGTAGGCACACACAAGCA CATACACAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(151): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00423.hp1 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG01099.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01175.hp1 HG01243.hp2 HG01257.hp1 HG01361.hp2 HG01433.hp2 HG01884.hp2 HG01891.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02135.hp2 HG02148.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02683.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03490.hp1 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04184.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp2 NA18906.hp1 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18957.hp1 NA18962.hp2 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18978.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp1 NA18993.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19043.hp1 NA19055.hp1 NA19057.hp2 NA19063.hp2 NA19064.hp2 NA19074.hp1 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0004 a0001c0006 others(6): Show a0001c0001 a0001c0004 a0001c0006 a0001c0009 a0002c0008 a0003c0007 a0004c0012 a0005c0011 a0006c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0004t0001 a0001c0004t0002 a0001c0006t0001 a0001c0009t0001 a0001c0009t0004 a0002c0008t0001 a0003c0007t0001 a0004c0012t0004 a0005c0011t0001 a0006c0014t0001	a0001c0001t0001g0003 a0001c0001t0001g0033 a0001c0001t0001g0038 others(151): Show a0001c0001t0001g0003 a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0066 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0097 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0156 a0001c0001t0001g0167 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0194 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0244 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0300 a0001c0001t0001g0307 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0314 a0001c0001t0001g0316 a0001c0001t0002g0037 a0001c0001t0002g0049 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0064 a0001c0001t0002g0069 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0102 a0001c0001t0002g0115 a0001c0001t0002g0118 a0001c0001t0002g0120 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0127 a0001c0001t0002g0139 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0155 a0001c0001t0002g0241 a0001c0001t0002g0291 a0001c0001t0002g0298 a0001c0001t0003g0005 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0024 a0001c0001t0003g0027 a0001c0001t0003g0029 a0001c0001t0004g0233 a0001c0001t0004g0234 a0001c0001t0004g0238 a0001c0001t0004g0306 a0001c0001t0005g0182 a0001c0001t0005g0304 a0001c0001t0006g0294 a0001c0001t0006g0299 a0001c0001t0007g0093 a0001c0001t0008g0297 a0001c0001t0009g0212 a0001c0004t0001g0053 a0001c0004t0001g0082 a0001c0004t0001g0140 a0001c0004t0001g0141 a0001c0004t0001g0159 a0001c0004t0002g0133 a0001c0006t0001g0153 a0001c0006t0001g0154 a0001c0009t0001g0246 a0001c0009t0004g0243 a0002c0008t0001g0272 a0002c0008t0001g0273 a0003c0007t0001g0172 a0003c0007t0001g0288 a0004c0012t0004g0259 a0005c0011t0001g0094 a0006c0014t0001g0248	154	324	0.4753	108	c.159 others(125): Show c.1590+537_1590+538insCATGCACACCGGTACACACAGGCACACA CTCGTGCACACGTACACAGGCATACAAATGCACACGCAGGCACACACAGG TACGTAGGCACACACAAGCACATACACATA	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDGFB_chr22_39218359_39249982	39220328	A A	AGGATGGA others(101): Show AGGATGGATGGATGGATGGATGGACAGGTGGATGGATGGATGGATGGATG GATGGATGGATGGACAGGTGGATGGATGGATGGATGGATGGATGGATGGA CAGGTGGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0151 a0001c0001t0032g0151	1	386	0.0026	108	c.50 others(119): Show c.5013_*5014insATCCACCTGTCCATCCATCCATCCATCCATCCAT CCATCCACCTGTCCATCCATCCATCCATCCATCCATCCATCCATCCACCT GTCCATCCATCCATCCATCCATCC	PDGFB	ENSG00000100311.17	transcript	ENST00000331163.11	protein_coding		3030		chr22	TogoVar
PDSS2_chr6_107147562_107464564	107402466	A A	ATATATAT others(101): Show ATATATATGTATACATATATATACGTATATATATGTATACATATATATAC GTATATATATGTATACATATATATACGTATATATATGTATATATGTATAC GTATATACG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01099.hp1 others(13): Show HG01069.hp1 HG01071.hp2 HG01099.hp1 HG02109.hp1 HG02145.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03540.hp1 NA18906.hp1 NA18962.hp1 NA18975.hp1 NA18977.hp2 NA19043.hp1 NA19054.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0001 a0001c0001t0003 a0001c0001t0007	a0001c0001t0001g0015 a0001c0001t0001g0141 a0001c0001t0001g0143 others(13): Show a0001c0001t0001g0015 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0162 a0001c0001t0001g0181 a0001c0001t0001g0192 a0001c0001t0001g0259 a0001c0001t0003g0148 a0001c0001t0007g0146 a0001c0001t0007g0156 a0001c0001t0007g0157	16	260	0.0615	108	c.296 others(127): Show c.296+56523_296+56524insCGTATATACGTATACATATATACATA TATATACGTATATATATGTATACATATATATACGTATATATATGTATACA TATATATACGTATATATATGTATACATATATA	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	1/7			chr6	TogoVar
PDSS2_chr6_107147562_107464564	107402466	A A	ATATATAT others(101): Show ATATATATGTATACATATATATACTTATATATATGTATACATATATATAC GTATATATATGTATACATATATATACGTATATATATGTATATATGTATAC GTATATACG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00673.hp1 HG00741.hp1 others(50): Show HG00140.hp1 HG00673.hp1 HG00741.hp1 HG01069.hp2 HG01071.hp1 HG01106.hp1 HG01109.hp2 HG01167.hp1 HG01168.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01361.hp1 HG01433.hp2 HG01515.hp1 HG01952.hp2 HG02027.hp1 HG02074.hp2 HG02145.hp2 HG02280.hp1 HG02451.hp2 HG02572.hp2 HG02602.hp1 HG02723.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02976.hp2 HG03516.hp2 HG03540.hp2 HG03704.hp2 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18942.hp1 NA18952.hp1 NA18953.hp2 NA18955.hp2 NA18982.hp1 NA18992.hp2 NA18995.hp1 NA19000.hp1 NA19007.hp1 NA19060.hp2 NA19062.hp1 NA19074.hp1 NA19077.hp2 NA19087.hp2 NA19240.hp2 NA20752.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015	a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 others(50): Show a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0002g0178 a0001c0001t0002g0190 a0001c0001t0002g0212 a0001c0001t0003g0183 a0001c0001t0005g0205 a0001c0001t0005g0227 a0001c0001t0006g0164 a0001c0001t0006g0204 a0001c0001t0011g0177 a0001c0001t0013g0003 a0001c0001t0014g0223 a0001c0001t0015g0180	53	260	0.2039	108	c.296 others(127): Show c.296+56523_296+56524insCGTATATACGTATACATATATACATA TATATACGTATATATATGTATACATATATATACGTATATATATGTATACA TATATATAAGTATATATATGTATACATATATA	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	1/7			chr6	TogoVar
PDSS2_chr6_107147562_107464564	107402466	A A	ATATATAT others(101): Show ATATATATGTATACATATATATACTTATATATATGTATACATATATATAC GTATATATATGTATACATATATATACGTATATATATGTATATATGTATAT GTATATACG	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	260	0.0039	108	c.296 others(127): Show c.296+56523_296+56524insCGTATATACATATACATATATACATA TATATACGTATATATATGTATACATATATATACGTATATATATGTATACA TATATATAAGTATATATATGTATACATATATA	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	1/7			chr6	TogoVar
PDZK1IP1_chr1_47178582_47195036	47179107	T T	TTCTCTCT others(101): Show TTCTCTCTCTCTCTCTCTCTCCCCCTCTCTCCCTCTCTCTCTCTCTCTCT CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTCTCCCTCTCCCTCTCC CTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	426	0.0024	108	c.48 others(119): Show c.4863_*4864insGAGAGAGAGGGAGAGGGAGAGGGAGAGGGAGGGG GAGGGGGAGGGGGAGGGGGAGGGGGAGAGAGAGAGAGAGAGAGGGAGAGA GGGGGAGAGAGAGAGAGAGAGAGA	PDZK1IP1	ENSG00000162366.8	transcript	ENST00000294338.7	protein_coding		4474		chr1	TogoVar
PDZK1IP1_chr1_47178582_47195036	47179107	T T	TTCTCTCT others(101): Show TTCTCTCTCTCTCTCTCTCTCCCCCTCTCTCCCTCTCTCTCTCTCTCTCT CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTCTCCCTCTCCCTCTCT CTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00544.hp2 HG00673.hp1 others(8): Show HG00408.hp2 HG00544.hp2 HG00673.hp1 HG02015.hp1 HG02132.hp2 HG02523.hp2 HG03492.hp1 HG04204.hp2 NA18974.hp2 NA18982.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0019 a0001c0001t0001g0073 a0001c0002t0001g0030	11	426	0.0258	108	c.48 others(119): Show c.4863_*4864insGAGAGAGAGAGAGAGGGAGAGGGAGAGGGAGGGG GAGGGGGAGGGGGAGGGGGAGGGGGAGAGAGAGAGAGAGAGAGGGAGAGA GGGGGAGAGAGAGAGAGAGAGAGA	PDZK1IP1	ENSG00000162366.8	transcript	ENST00000294338.7	protein_coding		4474		chr1	TogoVar
PDZK1IP1_chr1_47178582_47195036	47179107	T T	TTCTCTCT others(101): Show TTCTCTCTCTCTCTCTCTCTCTCCCCCTCTCTCCCTCTCTCTCTCTCTCC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCTGTCTCTCTCTCTCTCTCT CTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG01071.hp1 others(16): Show HG00099.hp2 HG00140.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01169.hp2 HG01255.hp1 HG01361.hp2 HG01891.hp1 HG01943.hp1 HG02148.hp1 HG02280.hp2 HG02300.hp1 HG02683.hp1 HG02683.hp2 HG02818.hp2 HG03834.hp1 NA20752.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(7): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0034 a0001c0001t0001g0061 a0001c0001t0001g0082 a0001c0001t0001g0097	19	426	0.0446	108	c.48 others(119): Show c.4863_*4864insGAGAGAGAGAGAGAGAGAGAGAGAGACAGAGAGG GGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGAGAGAGAGAGGGAGAGAGG GGGAGAGAGAGAGAGAGAGAGAGA	PDZK1IP1	ENSG00000162366.8	transcript	ENST00000294338.7	protein_coding		4474		chr1	TogoVar
PFN3_chr5_177395109_177405661	177396515	T T	TCTCTCCC others(101): Show TCTCTCCCAGTGCCCCCGCGGAGGTCCGCTCTCCCAGTGCCCCCGCGGAG GTCCTCTCTCCCAGTGCCCCCGCGGAGGTCCTCTCTCCCAGTGCCCCCGC GGAGATCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG01943.hp1 HG01496.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	416	0.0048	108	c.35 others(119): Show c.3540_*3647dupCGGATCTCCGCGGGGGCACTGGGAGAGAGGACCT CCGCGGGGGCACTGGGAGAGAGGACCTCCGCGGGGGCACTGGGAGAGCGG ACCTCCGCGGGGGCACTGGGAGAG	PFN3	ENSG00000196570.3	transcript	ENST00000358571.3	protein_coding		3593		chr5	TogoVar
PGAP6_chr16_365788_386978	378181	C C	CCCACCCG others(101): Show CCCACCCGCACTGCCATCGCCACCCGCACTGCCATCGCCACTCTGACTGC CATCGCCACCCTGACTGCCATCGCCACCCGCACTGCCATCCCCACCCGCA CTGCCATCG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00544.hp2 others(43): Show HG00099.hp2 HG00280.hp1 HG00544.hp2 HG01069.hp1 HG01081.hp1 HG01081.hp2 HG01891.hp2 HG01928.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01993.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp2 HG02486.hp2 HG02559.hp2 HG02615.hp1 HG02647.hp1 HG02683.hp1 HG02717.hp1 HG02809.hp2 HG02896.hp2 HG02897.hp2 HG03130.hp2 HG03209.hp1 HG03239.hp1 HG03453.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03710.hp1 HG04115.hp1 HG06807.hp1 NA18960.hp1 NA18967.hp1 NA18970.hp1 NA18979.hp2 NA18994.hp2 NA18995.hp1 NA19057.hp2 NA19089.hp1 NA19089.hp2 NA20905.hp1 NA21309.hp2	a0002 a0009 a0012 others(1): Show a0002 a0009 a0012 a0013	a0002c0002 a0009c0014 a0012c0017 others(1): Show a0002c0002 a0009c0014 a0012c0017 a0013c0016	a0002c0002t0001 a0002c0002t0004 a0002c0002t0009 others(3): Show a0002c0002t0001 a0002c0002t0004 a0002c0002t0009 a0009c0014t0001 a0012c0017t0001 a0013c0016t0001	a0002c0002t0001g0004 a0002c0002t0001g0006 a0002c0002t0001g0008 others(13): Show a0002c0002t0001g0004 a0002c0002t0001g0006 a0002c0002t0001g0008 a0002c0002t0001g0132 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0140 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0160 a0002c0002t0004g0047 a0002c0002t0009g0011 a0009c0014t0001g0141 a0012c0017t0001g0137 a0013c0016t0001g0142	46	376	0.1223	108	c.122 others(123): Show c.122-334_122-333insCGATGGCAGTGCGGGTGGGGATGGCAGTGC GGGTGGCGATGGCAGTCAGGGTGGCGATGGCAGTCAGAGTGGCGATGGCA GTGCGGGTGGCGATGGCAGTGCGGGTGG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding	1/12			chr16	TogoVar
PGAP6_chr16_365788_386978	378204	C C	CCGCACTG others(101): Show CCGCACTGCCATCGCCACTCTGACTGCCATCGCCACCCTGACTGCCATCG CCACCCGCACTGCCATCCCCACCCGCACTGCCATCGCCACCCGCACTGCC ATCGCCACT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0138 a0002c0002t0003g0138	1	376	0.0027	108	c.122 others(123): Show c.122-357_122-356insAGTGGCGATGGCAGTGCGGGTGGCGATGGC AGTGCGGGTGGGGATGGCAGTGCGGGTGGCGATGGCAGTCAGGGTGGCGA TGGCAGTCAGAGTGGCGATGGCAGTGCG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding	1/12			chr16	TogoVar
PGPEP1L_chr15_98963229_99012792	99010748	G G	GCAAAAAA others(101): Show GCAAAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAATAAAATAAATAAAATAAAATTCCTGGTAGTTTTCTGT GATATATCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp2 HG02622.hp1 HG03471.hp2 others(1): Show HG02129.hp2 HG02622.hp1 HG03471.hp2 NA20129.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0002 a0001c0001t0012 a0005c0007t0006 a0001c0001t0002 a0001c0001t0012 a0005c0007t0006	a0001c0001t0002g0312 a0001c0001t0012g0376 a0001c0001t0012g0377 others(1): Show a0001c0001t0002g0312 a0001c0001t0012g0376 a0001c0001t0012g0377 a0005c0007t0006g0258	4	398	0.0101	108	c.-37 others(119): Show c.-3760_-3759insTGATATATCACAGAAAACTACCAGGAATTTTATT TTATTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTTTG	PGPEP1L	ENSG00000183571.11	transcript	ENST00000535714.2	protein_coding		2957		chr15	TogoVar

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