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
NLRP8_chr19_55942832_55993629	55993492	C C	CCCCCCTC others(298): Show CCCCCCTCTCCCCCCCTCTCCCCCCCTCTCCCCCCCTCTCCCCCCCTCTC CCCCCCTCTCCCCCCCCTCTCCCCCCCCTCTCCCCCCCCTCCCCCACCTC TCCCCCCCTCCCCCCCTCCCCCCCCTCCCCCCTCTCCCCCTCCCTCCCCC TCCCCCCTCTCCCCCTCCCCCCTCTCCCCTCCCCCTCCCCTCCCCTCCCC TCCCCCCTCCCCTCCCCCTCCCCTCCCTCCCCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCT CCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0013 a0001c0005t0013	a0001c0005t0013g0116 a0001c0005t0013g0116	1	350	0.0029	305	c.55 others(316): Show c.5579_*5580insCCCCCTCTCCCCCCCTCTCCCCCCCTCTCCCCCC CTCTCCCCCCCTCTCCCCCCCTCTCCCCCCCCTCTCCCCCCCCTCTCCCC CCCCTCCCCCACCTCTCCCCCCCTCCCCCCCTCCCCCCCCTCCCCCCTCT CCCCCTCCCTCCCCCTCCCCCCTCTCCCCCTCCCCCCTCTCCCCTCCCCC TCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCTCCCCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCCCCCCTCCCCCTCCCCTCCCCTCC CCTCCCCTCCCCCCTCCCCCT	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4864		chr19	TogoVar
NOC4L_chr12_132139457_132157468	132148918	C C	CACCACAC others(298): Show CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCTCGCTCACACCACACCCCTAAT CCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTC GGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAG TGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGC CGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTC ACTCCT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	294	0.0034	305	c.901 others(318): Show c.901+61_901+62insGCTCCTACCACACCCCTAATCCCCTCGGTGAG TGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACT CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOS3_chr7_150986017_151019588	150995593	C C	CCCCCCAT others(298): Show CCCCCCATCCCACCCCTGCCCCCCCTCCCATCCCACCTCTAAACCCCTCC TCCCTCTCCCCCGTCCCACCCCTAAACCCCACCTCCCTGTCCCCCTCTAA ACCCCTCCTCCCTGTCCCCCTCTAAACCCCTCCTCCCTCTCCCCATCCCA CCCCTGCACCCTTCCTCCCTCTGCCCCCGTCCCACGCCTGTACTCCTCCT CCCTCTCCCCCGTCACACCCCTGCACCCCTCCTCCCTCTCCCCATCCCAT CCCTGCACCCCTCCTCCCTCTGCCCCCGTCCCACCCCTAAACCCCTCCTC CCTCTG	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	382	0.0026	305	c.270 others(320): Show c.270+284_270+285insATCCCACCCCTGCCCCCCCTCCCATCCCAC CTCTAAACCCCTCCTCCCTCTCCCCCGTCCCACCCCTAAACCCCACCTCC CTGTCCCCCTCTAAACCCCTCCTCCCTGTCCCCCTCTAAACCCCTCCTCC CTCTCCCCATCCCACCCCTGCACCCTTCCTCCCTCTGCCCCCGTCCCACG CCTGTACTCCTCCTCCCTCTCCCCCGTCACACCCCTGCACCCCTCCTCCC TCTCCCCATCCCATCCCTGCACCCCTCCTCCCTCTGCCCCCGTCCCACCC CTAAACCCCTCCTCCCTCTGCCCCC	NOS3	ENSG00000164867.11	transcript	ENST00000297494.8	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
NOTCH1_chr9_136489433_136551048	136535464	C C	CGGGGAGC others(298): Show CGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTGG AGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGT GGAGAGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGG GTGGAGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTG GGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTG GGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTG GGTGGG	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0001 a0003c0015t0001	a0003c0015t0001g0297 a0003c0015t0001g0297	1	324	0.0031	305	c.140 others(322): Show c.140+8559_140+8560insCCCACCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCCTCCACCCACCCTGCACCCATTGCCCCT GGGAGGGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCACCCATTGCCC CTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGC CCCTGGGAGGGATCCTGAGTGCTCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535464	C C	CGGGGAGC others(298): Show CGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTGG AGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGGTGCAGGGTGGGTG GGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGG TCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGG TGGGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTG GGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTG GGTCGG	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	324	0.0031	305	c.140 others(322): Show c.140+8559_140+8560insCCGACCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCCCCCCACCCACCCTGCACCCATTGCCCC TGGGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCC TGGGAGGGATCCTGAGTGCTCCCCCCCCCACCCACCCTGCACCCATTGCC CCGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGC CCCTGGGAGGGATCCTGAGTGCTCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535833	A A	AGGGGGGA others(298): Show AGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGAGTGCAGGGTGGGTG GAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGG TGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGGTGCAGGGTGG GTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGT GGGTGGAGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02040.hp1 HG02135.hp1 others(2): Show HG00673.hp2 HG02040.hp1 HG02135.hp1 NA19005.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0043 a0001c0001 a0001c0043	a0001c0001t0003 a0001c0043t0001 a0001c0001t0003 a0001c0043t0001	a0001c0001t0003g0189 a0001c0001t0003g0253 a0001c0001t0003g0254 others(2): Show a0001c0001t0003g0189 a0001c0001t0003g0253 a0001c0001t0003g0254 a0001c0001t0003g0296 a0001c0043t0001g0198	5	324	0.0154	305	c.140 others(322): Show c.140+8190_140+8191insCACCCACCCTGCACCCATTGCCCCTGGG AGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTGGG AGGGATCCTGAGTGCTCCCCCTCCACCCACCCTGCACCCATTGCCCCTGG GAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCG GGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCC TGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACTCATTGCC CCGGGAGGGATCCTGAGTGCTCCCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NWD1_chr19_16714847_16822953	16738829	T T	TATACATT others(298): Show TATACATTATATATTATATATAATACATAATGTATACATTATATATAATA TATAATACATTATATATAATATATAATACATTATATATAATATATAATAC ATTATATATAATATATAATACATTATATATAATATATAATACATTATATA TAATATATAATACATTATATATTATATATAATACATTATATATTATATAT AATACATTATATATAATATATAATACATTATATATTATATATAATACATT ATATATAATATATAATACATTATATATTATATATAATACATTATATATAA TATATA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02293.hp1 HG02622.hp2 others(2): Show HG01081.hp1 HG02293.hp1 HG02622.hp2 HG03453.hp2 NA18906.hp2	a0004 a0019 a0021 others(1): Show a0004 a0019 a0021 a0033	a0004c0005 a0019c0024 a0021c0026 others(1): Show a0004c0005 a0019c0024 a0021c0026 a0033c0052	a0004c0005t0039 a0019c0024t0001 a0021c0026t0002 others(1): Show a0004c0005t0039 a0019c0024t0001 a0021c0026t0002 a0033c0052t0001	a0004c0005t0039g0084 a0019c0024t0001g0251 a0019c0024t0001g0259 others(2): Show a0004c0005t0039g0084 a0019c0024t0001g0251 a0019c0024t0001g0259 a0021c0026t0002g0083 a0033c0052t0001g0254	5	300	0.0167	305	c.198 others(322): Show c.198+2106_198+2107insAATGTATACATTATATATAATATATAAT ACATTATATATAATATATAATACATTATATATAATATATAATACATTATA TATAATATATAATACATTATATATAATATATAATACATTATATATAATAT ATAATACATTATATATTATATATAATACATTATATATTATATATAATACA TTATATATAATATATAATACATTATATATTATATATAATACATTATATAT AATATATAATACATTATATATTATATATAATACATTATATATAATATATA ATACATTATATATTATATATAATACAT	NWD1	ENSG00000188039.17	transcript	ENST00000524140.7	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
OSBPL9_chr1_51612092_51794219	51711488	C C	CGGGGAAG others(298): Show CGGGGAAGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACG GGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG GCTGATCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCCGAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00642.hp2 HG01167.hp2 others(4): Show HG00140.hp2 HG00642.hp2 HG01167.hp2 HG01517.hp2 HG02109.hp2 HG02723.hp2 HG06807.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0008 a0001c0001 a0003c0008	a0001c0001t0001 a0003c0008t0001 a0001c0001t0001 a0003c0008t0001	a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 others(4): Show a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0003c0008t0001g0144	7	186	0.0376	305	c.242 others(322): Show c.242-2511_242-2510insAAGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGGCTGATCCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCCGATGGGG	OSBPL9	ENSG00000117859.19	transcript	ENST00000428468.6	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAK2_chr3_196734857_196837647	196811208	T T	TTCCCTTC others(298): Show TTCCCTTCCTTCCCTTCCCTACCCTCCCTTCCCTCCCTCCCTTCCCTCCC TCCCTTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTT CCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCTTCC CTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTACCCTCCCTTCCCTCCC TCCCTTCCTTCCCTTCCTTCCCTTCCCTCCCTTCCCTCCCTTCCTTCCCT CCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTC CCTCCC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0043 a0001c0001t0033g0043	1	178	0.0056	305	c.773 others(320): Show c.773+563_773+564insTTCCCTTCCCTACCCTCCCTTCCCTCCCTC CCTTCCCTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTCCC TTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCT CCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTACCCTC CCTTCCCTCCCTCCCTTCCTTCCCTTCCTTCCCTTCCCTCCCTTCCCTCC CTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCT TCCCTCCCTTCCCTCCCTCCCTTCC	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PARL_chr3_183824271_183889880	183870210	A A	AGAGGTTG others(298): Show AGAGGTTGCAGTGAGCCGAGACTGTGCCACTGCATTCCAGCCTGGGAGAC AAAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGTCTAGGCTGGGCA CAGCGACTCACACCTGTAATCCCAGCATTTTGGGAGGCCGAGGCAGGCAG ATCACCTAAGGTCAGGAGTTCAAGACCAGTCTGGCCAACACTGGGAAACC CTGACTCTACTAAGAATACAAAAATTAGCTGGGCGTGATGGTGTACACCT GTAATCTCAGCTACTCGCGAGGCTGACGCATGAGAAGTGCTTGAACCCGG GAAGTG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00438.hp1 others(94): Show HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00621.hp1 HG00738.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01106.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01346.hp1 HG01496.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp2 HG02027.hp2 HG02071.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02132.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02280.hp2 HG02293.hp1 HG02451.hp2 HG02735.hp2 HG02738.hp2 HG03041.hp1 HG03654.hp2 HG03704.hp2 HG03710.hp1 HG04115.hp2 NA18612.hp2 NA18945.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18961.hp1 NA18962.hp2 NA18967.hp1 NA18973.hp2 NA18974.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18983.hp1 NA18983.hp2 NA18989.hp1 NA18992.hp2 NA18993.hp1 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19007.hp1 NA19011.hp2 NA19012.hp1 NA19056.hp2 NA19060.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19075.hp1 NA19077.hp1 NA19078.hp1 NA19081.hp2 NA19083.hp1 NA19085.hp1 NA19088.hp1 NA19090.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0018 others(89): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0018 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0231 a0001c0001t0001g0236 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0260 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0004c0004t0001g0282 a0004c0004t0001g0288	97	358	0.2710	305	c.126 others(322): Show c.126-2151_126-2150insCACTTCCCGGGTTCAAGCACTTCTCATG CGTCAGCCTCGCGAGTAGCTGAGATTACAGGTGTACACCATCACGCCCAG CTAATTTTTGTATTCTTAGTAGAGTCAGGGTTTCCCAGTGTTGGCCAGAC TGGTCTTGAACTCCTGACCTTAGGTGATCTGCCTGCCTCGGCCTCCCAAA ATGCTGGGATTACAGGTGTGAGTCGCTGTGCCCAGCCTAGACTTTTTTTT TTTTTTTTTTGAGATGGAGTCTCGCTTTGTCTCCCAGGCTGGAATGCAGT GGCACAGTCTCGGCTCACTGCAACCTC	PARL	ENSG00000175193.14	transcript	ENST00000317096.9	protein_coding	1/9			chr3	TogoVar
PARL_chr3_183824271_183889880	183870210	A A	AGAGGTTG others(298): Show AGAGGTTGCAGTGAGCCGAGCCTGTGCCACTGCATTCCAGCCTGGGAGAC AAAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGTCTAGGCTGGGCA CAGCGACTCACACCTGTAATCCCAGCATTTTGGGAGGCCGAGGCAGGCAG ATCACCTAAGGTCAGGAGTTCAAGACCAGTCTGGCCAACACTGGGAAACC CTGACTCTACTAAGAATACAAAAATTAGCTGGGCGTGATGGTGTACACCT GTAATCTCAGCTACTCGCGAGGCTGACGCATGAGAAGTGCTTGAACCCGG GAAGTG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	358	0.0028	305	c.126 others(322): Show c.126-2151_126-2150insCACTTCCCGGGTTCAAGCACTTCTCATG CGTCAGCCTCGCGAGTAGCTGAGATTACAGGTGTACACCATCACGCCCAG CTAATTTTTGTATTCTTAGTAGAGTCAGGGTTTCCCAGTGTTGGCCAGAC TGGTCTTGAACTCCTGACCTTAGGTGATCTGCCTGCCTCGGCCTCCCAAA ATGCTGGGATTACAGGTGTGAGTCGCTGTGCCCAGCCTAGACTTTTTTTT TTTTTTTTTTGAGATGGAGTCTCGCTTTGTCTCCCAGGCTGGAATGCAGT GGCACAGGCTCGGCTCACTGCAACCTC	PARL	ENSG00000175193.14	transcript	ENST00000317096.9	protein_coding	1/9			chr3	TogoVar
PARP10_chr8_143972158_143991460	143981820	A A	AGGGTCAT others(298): Show AGGGTCATGGTGATGGTGATGATGATGAGTGGGGATGATGGTGGTGATGG TGACTGTTGTGATGGTGATGGTGGTGATGGTGATGGTGGTGGTGATGACA GTGAGTGGTGAGGGTCATGGTGATGGTGATGATGATGATGAGTGGGGATG ATTATGGTGATGGTGGTGGTGATGGTGATTGTTGTGATGGTGATGGTGGT GATGACAGTGAGTGGTGAGGGTCATGGTGATGGTGATGGTGATGATGATG AGTGGGGATGATTATGGTGATGGTGGTGGTGATGGTGACTGTTGTAATGG TGATGG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0214 a0002c0002t0003g0214	1	380	0.0026	305	c.255 others(324): Show c.2556+1111_2556+1112insCCATCACCATTACAACAGTCACCATC ACCACCACCATCACCATAATCATCCCCACTCATCATCATCACCATCACCA TCACCATGACCCTCACCACTCACTGTCATCACCACCATCACCATCACAAC AATCACCATCACCACCACCATCACCATAATCATCCCCACTCATCATCATC ATCACCATCACCATGACCCTCACCACTCACTGTCATCACCACCACCATCA CCATCACCACCATCACCATCACAACAGTCACCATCACCACCATCATCCCC ACTCATCATCATCACCATCACCATGACCC	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar
PASK_chr2_241101099_241154472	241115993	G G	GGGCCACC others(298): Show GGGCCACCCGGTCCTCAAGCATCCCATTACACCAGGGCCACCCGGTCCCC AAGCATCCCATTACACCAGGGACACCCGGTCCTCAAGCATCCCATTACAC CAGGGACACCCGGTCCCCAAGCATCCCATTACACCAGGGACACCCGGTCC CCAAGCATCCCATTACACCAGGGGCCACCGGTCCTCAAGCATCCCATTAC ACCAGGGACACCCGGTCCCCAAGCATCCCATTACACCAGGGCCACCCGGT CCCCAAGCATCCCATTACACCAGGGCCACCCGGTCCCCAAGCATCCCATT ACACCA	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0335 a0002c0007t0001g0335	1	376	0.0027	305	c.307 others(322): Show c.3073-581_3073-580insTGGTGTAATGGGATGCTTGGGGACCGGG TGGCCCTGGTGTAATGGGATGCTTGGGGACCGGGTGGCCCTGGTGTAATG GGATGCTTGGGGACCGGGTGTCCCTGGTGTAATGGGATGCTTGAGGACCG GTGGCCCCTGGTGTAATGGGATGCTTGGGGACCGGGTGTCCCTGGTGTAA TGGGATGCTTGGGGACCGGGTGTCCCTGGTGTAATGGGATGCTTGAGGAC CGGGTGTCCCTGGTGTAATGGGATGCTTGGGGACCGGGTGGCCCTGGTGT AATGGGATGCTTGAGGACCGGGTGGCC	PASK	ENSG00000115687.14	transcript	ENST00000234040.9	protein_coding	12/17			chr2	TogoVar
PCBP3_chr21_45638725_45947450	45815717	A A	ATGAGTGG others(298): Show ATGAGTGGTGAGTGGTGAGTGAGTGGTGAGTGGTGAGTGAGTGATGAGTG AGTGGTGAGTGATGAGTGGTGAGTGGTGAGTGATGAGTGAGTGGTGAGTG AGTGGTGAGTGGTGAGTGAGTGGTGAGTGATGAGTGAGTGGTGAGTGGTG AGTCAGTGGTGAGTGGTGAGTGAGTGATGAGTGATGGGTGAGTGGTGAGT GATGAGTGAGTGGTGAGTGAGTGGTGAGTGATGAGTGAGTGGTGAGTAGT GAGTGATGAGTGGTGAGTGGTGAGTGAGTGGTGAGTGGTGAGTGAGTGGT GAGTAG	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	292	0.0034	305	c.-12 others(326): Show c.-125-34161_-125-33857dupTGAGTGAGTGGTGAGTGAGTGGTG AGTGGTGAGTGAGTGGTGAGTGATGAGTGAGTGGTGAGTGGTGAGTCAGT GGTGAGTGGTGAGTGAGTGATGAGTGATGGGTGAGTGGTGAGTGATGAGT GAGTGGTGAGTGAGTGGTGAGTGATGAGTGAGTGGTGAGTAGTGAGTGAT GAGTGGTGAGTGGTGAGTGAGTGGTGAGTGGTGAGTGAGTGGTGAGTAGT GAGTGGTGAGTGGTGAGTGAGTGGTGAGTGGTGAGTGAGTGATGAGTGAG TGGTGAGTGATGAGTGGTGAGTGGTGAGTGA	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCMT1_chr6_149744741_149816419	149803478	C C	CATAATCT others(298): Show CATAATCTGAATATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTGGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	334	0.0030	305	c.37 others(322): Show c.37+1078_*37+1079insTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTGGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAATAATCTGAATATTTT	PCMT1	ENSG00000120265.21	transcript	ENST00000464889.7	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
PCSK6_chr15_101298933_101494707	101312038	C C	CCCCTCAC others(298): Show CCCCTCACAGCCCACCCCATCGTCACACCCTCACAGCCCACCCCATCGTC ACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTC ACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTC ACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTC ACCCCTCACAGCCCACCCCATCGTCACACCCTCACAGCCCACCCCATCGT CACACCCTCACAGCCCACCCCATCGTCACACCCTCACAGCCCACCCCATC GTCACA	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0100 a0001c0004t0001g0100	1	336	0.0030	305	c.269 others(324): Show c.2699+1337_2699+1338insTGTGACGATGGGGTGGGCTGTGAGGG TGTGACGATGGGGTGGGCTGTGAGGGTGTGACGATGGGGTGGGCTGTGAG GGTGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGA GGGGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGA GGGGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGA GGGGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGA GGGTGTGACGATGGGGTGGGCTGTGAGGG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PDCD6_chr5_266646_319974	318212	A A	ACCTCCCC others(298): Show ACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCATCCTT CACCTCCCCTCTCACCCTCCACCTCCCCCACTCACCCTCCACCTCCCCCC CACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCT CCCCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCAC CTCCCCCAATCCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTC CACCTCCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCTCCC CATCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	360	0.0028	305	c.36 others(316): Show c.3697_*3698insCCTCCCCCCACCCTCCATCTGCCCCCAACCCTGC ACCTCCCCCATCCTTCACCTCCCCTCTCACCCTCCACCTCCCCCACTCAC CCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGC CCTCACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCTCCATCTG CCCCCAACCCTGCACCTCCCCCAATCCTTCACCTCCCCCCTCCCTTCATC TCCCCCCTCACCCTCCACCTCCCCCCCGCACCCTGCACCTCCCACCCTTA CCCTGCACCTCTCCCCATCTT	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3239		chr5	TogoVar
PDE3A_chr12_20363537_20693583	20612597	C C	CTTACTTA others(298): Show CTTACTTATATAAGTAACTATATATAAGTAATATAGTTACTTATATAAGT AACTATATATAAGTAATATATAAGTAACTATATATAAGTAATATAGTTAC TTATATAAGTAACTATATATAAGTAATATAGTTACTTATATAAGTAACTA TATATAAGTAATATAGTTACTTATATAAGTAACTATATATAAGTAATATA GTTACTTATATAAGTAACTATATATAAGTAATATAGTTACTTATATAAGT AACTATATATAAGTAATATAGTTACTTATATAAGTAACTATATATAAGTA ATATAG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03209.hp1 NA20300.hp2 HG02486.hp1 HG03209.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0063 a0001c0001t0147 a0002c0002t0124 a0001c0001t0063 a0001c0001t0147 a0002c0002t0124	a0001c0001t0063g0057 a0001c0001t0147g0083 a0002c0002t0124g0017 a0001c0001t0063g0057 a0001c0001t0147g0083 a0002c0002t0124g0017	3	198	0.0152	305	c.101 others(322): Show c.1012-777_1012-776insTAAGTAACTATATATAAGTAATATAGTT ACTTATATAAGTAACTATATATAAGTAATATAGTTACTTATATAAGTAAC TATATATAAGTAATATAGTTACTTATATAAGTAACTATATATAAGTAATA TAGTTACTTATATAAGTAACTATATATAAGTAATATAGTTACTTATATAA GTAACTATATATAAGTAATATAGTTACTTATATAAGTAACTATATATAAG TAATATAGTTACTTATATAAGTAACTATATATAAGTAATATAGTTACTTA TATAAGTAACTATATATAAGTAATATA	PDE3A	ENSG00000172572.7	transcript	ENST00000359062.4	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PDIA6_chr2_10778391_10817785	10806628	C C	CAAAGAAA others(298): Show CAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGGAAAAGAAAAGAAAAAAAGAAAGAAAGAAAG AAAGAA	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0211 a0002c0002t0001g0211	1	342	0.0029	305	c.20- others(320): Show c.20-3989_20-3988insTTCTTTCTTTCTTTCTTTCTTTTTTTCTTT TCTTTTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTT	PDIA6	ENSG00000143870.13	transcript	ENST00000272227.8	protein_coding	1/12			chr2	TogoVar
PDIA6_chr2_10778391_10817785	10806628	C C	CGAAAGAA others(298): Show CGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGGAAAAGAAAAGAAAAAAAGAAAGAAG AAAGAA	intron_variant intron_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0292 a0002c0002t0006g0292	1	342	0.0029	305	c.20- others(320): Show c.20-3989_20-3988insTTCTTTCTTCTTTCTTTTTTTCTTTTCTTT TCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTC	PDIA6	ENSG00000143870.13	transcript	ENST00000272227.8	protein_coding	1/12			chr2	TogoVar
PFKP_chr10_3062548_3141802	3106724	T T	TGCCCCTC others(298): Show TGCCCCTCTCCTCACCCCTGCCCCTCTCCTCACCCCTGCCCCTCTCCTCA CCCCTGCCCCTGCCCCTTCACCCCTGCCCCTGCCCCTTCACCCCTGCCCC TCTCCTCACCCCTGCCCCTTCACACCTGCCCCTCTCCTCGCCCCTGCCGC TTCACCCCTGCCCCTCTCCTCACCCCTGCCCCCTGCCCCTTCACCCCTGC CCCTCTCCTCGCCCCTGCCCCTTCACCCCTGCCCCTCTCCTCGCCCCTGC CCCTTCACCCCTGCCCCTCTCCTCGCCCCTGCCCCTTCACCCCTGCCCCT CTCCTC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0007 a0001c0006t0007	a0001c0006t0007g0402 a0001c0006t0007g0402	1	402	0.0025	305	c.775 others(320): Show c.775-484_775-483insCTCCTCACCCCTGCCCCTCTCCTCACCCCT GCCCCTCTCCTCACCCCTGCCCCTGCCCCTTCACCCCTGCCCCTGCCCCT TCACCCCTGCCCCTCTCCTCACCCCTGCCCCTTCACACCTGCCCCTCTCC TCGCCCCTGCCGCTTCACCCCTGCCCCTCTCCTCACCCCTGCCCCCTGCC CCTTCACCCCTGCCCCTCTCCTCGCCCCTGCCCCTTCACCCCTGCCCCTC TCCTCGCCCCTGCCCCTTCACCCCTGCCCCTCTCCTCGCCCCTGCCCCTT CACCCCTGCCCCTCTCCTCGCCCCT	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PGAM5_chr12_132705842_132727734	132718361	T T	TGTCCTGG others(298): Show TGTCCTGGGTGGGGGGTCCTGGGTGGGGGTGTCCTGGGTGGGGTGCATGC TGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGG TGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGTGCATGCTGGGTGGG GGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGC GTGCTGGGTGGGGGGTCCTGGGTGGGGTGCATGCTGGGTGGGGGTGTCCT GGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGG TGGGGG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03471.hp2 HG03139.hp2 HG03471.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0009 a0001c0004t0009	a0001c0004t0009g0056 a0001c0004t0009g0058 a0001c0004t0009g0056 a0001c0004t0009g0058	2	394	0.0051	305	c.719 others(320): Show c.719+254_719+255insGGTCCTGGGTGGGGGTGTCCTGGGTGGGGT GCATGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGT CCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGTGCATGCTG GGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTG GGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGTGCATGCTGGGTGGGGG TGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGT GCTGGGTGGGGGGTCCTGGGTGGGG	PGAM5	ENSG00000247077.8	transcript	ENST00000498926.7	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
PGAM5_chr12_132705842_132727734	132718361	T T	TGTCCTGG others(298): Show TGTCCTGGGTGGGGGGTCCTGGGTGGGGGTGTCCTGGGTGGGGTGCATGC TGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGG TGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGTGCATGCTGGGTGGG GGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGC GTGCTGGGTGGGGGGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCT GGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGG TGGGGG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0009 a0001c0004t0009	a0001c0004t0009g0057 a0001c0004t0009g0057	1	394	0.0025	305	c.719 others(320): Show c.719+254_719+255insGGTCCTGGGTGGGGGTGTCCTGGGTGGGGT GCATGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGT CCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGTGCATGCTG GGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTG GGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGTGCGTGCTGGGTGGGGG TGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGT GCTGGGTGGGGGGTCCTGGGTGGGG	PGAM5	ENSG00000247077.8	transcript	ENST00000498926.7	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
PHACTR4_chr1_28364740_28505364	28395818	A A	ATTTTTTT others(298): Show ATTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA GTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAC GCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGACTACAGGCGCCCGC CACTACGCCCGGCTATTTTTTGTAGTTTTTTAGTAGAGACGGGGTTTCAC CGTTTTAGCCTGGATGGTCTCGGTCTCCTGACCTCGTGATCCGCCCGCCT TGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCT TTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG03688.hp1 HG01123.hp2 HG03688.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0121 a0001c0003t0010g0180 a0001c0003t0010g0121 a0001c0003t0010g0180	2	228	0.0088	305	c.-38 others(324): Show c.-38-11576_-38-11575insGAGACGGAGTCTCGCTCTGTCGCCCA GGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGACTACAGG CGCCCGCCACTACGCCCGGCTATTTTTTGTAGTTTTTTAGTAGAGACGGG GTTTCACCGTTTTAGCCTGGATGGTCTCGGTCTCCTGACCTCGTGATCCG CCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGCCTTTTTTTTTTTTTTTTTTTTTTT	PHACTR4	ENSG00000204138.13	transcript	ENST00000373839.8	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
PHRF1_chr11_571470_617222	590029	T T	TGGAGCGT others(298): Show TGGAGCGTGCGGGGCTCAGCCTGAGAATGTCTGCAAACGGGCACGGAGCG TGCGGGGCTCAGCCTGAGAGAGAGTCTGCAAACGGGCACGGAGCGTGCGG GGCTCAGCCTGAGAATGTCTGCAAACGGGCATGGAGCGTGCAGGGTTCAG CCTGAGAGGGTGTCTGCAAACGGGCACGGAGCGTGCGGGGCTCAGCCTGA GAGTCTGCAAACGGGCACGGAGCGTGTGGGGCTCAGCCTCAGAGAGTGTC TGCAAACGGGCATGGAGCGTGCGGGGCTCAGCCTGAGAATGTCTGCAAAC GGGCAC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0038 a0001c0003t0002g0038	1	279	0.0036	305	c.421 others(322): Show c.421-1313_421-1312insCGGAGCGTGCGGGGCTCAGCCTGAGAGA GAGTCTGCAAACGGGCACGGAGCGTGCGGGGCTCAGCCTGAGAATGTCTG CAAACGGGCATGGAGCGTGCAGGGTTCAGCCTGAGAGGGTGTCTGCAAAC GGGCACGGAGCGTGCGGGGCTCAGCCTGAGAGTCTGCAAACGGGCACGGA GCGTGTGGGGCTCAGCCTCAGAGAGTGTCTGCAAACGGGCATGGAGCGTG CGGGGCTCAGCCTGAGAATGTCTGCAAACGGGCACGGAGCGTGCGGGGCT CAGCCTGAGAATGTCTGCAAACGGGCA	PHRF1	ENSG00000070047.13	transcript	ENST00000264555.10	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr11	TogoVar
PIAS4_chr19_4002736_4044386	4011686	T T	TGTGTTTG others(298): Show TGTGTTTGGTGTGGAGGTGTGTTTGGTGTGGAGCTGTGGGGTGTGGAGGT GTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGGGGTGTGGAGCTG TGGGGTGTGGAGGTGTGTTTGGTGTGGAGCTGTGGGGTGTGGAGGTGTGT TTGGTGTGGAGCTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGGTGTGTT TGGTGTGGAGCTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGG GGTGTGGAGGTGTGGGGTGTGGAGCTGTGGGGTGTGGAGGTGTGTGGGGT GTGGAG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0294 a0001c0003t0001g0294	1	334	0.0030	305	c.28- others(320): Show c.28-1233_28-1232insTTGGTGTGGAGGTGTGTTTGGTGTGGAGCT GTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTG TGGGGTGTGGAGCTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGCTGTGG GGTGTGGAGGTGTGTTTGGTGTGGAGCTGTGGGGTGTGGAGGTGTGTTTG GTGTGGAGGTGTGTTTGGTGTGGAGCTGTGGGGTGTGGAGGTGTGTGGGG TGTGGAGGTGTGTGGGGTGTGGAGGTGTGGGGTGTGGAGCTGTGGGGTGT GGAGGTGTGTGGGGTGTGGAGGTGT	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
PIMREG_chr17_6439455_6456469	6455724	G G	GGAGGGGA others(298): Show GGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGGG AGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAG GGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGG GGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGG AAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAA GAGGGGAAGGGGGGGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGGA GGGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0104 a0001c0001t0003g0104	1	312	0.0032	305	c.53 others(316): Show c.5377_*5378insGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGG AGGGGAGGAGATGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAG GGGAGGGGAGAGGAGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGG GAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGA AGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAG GGAGGGGAGGGGGAAGAGGGGAAGGGGGGGAGGGGAGAGGAGGGAAGGGG GAAGAGGGGATGGGAGGGGAA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4256		chr17	TogoVar
PIMREG_chr17_6439455_6456469	6455724	G G	GGAGGGGA others(298): Show GGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGGG AGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAG GGAAGAGGGAAGAGGGGAGGGGAGGGGGGAAGAGGGGAAGGGAGGGGAGG GGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGG GAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGA AGAGGGGAAGGGGGGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGGA GGGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	312	0.0032	305	c.53 others(316): Show c.5377_*5378insGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGG AGGGGAGGAGATGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAG GGGAGGGGAGAGGAGGGAAGAGGGAAGAGGGGAGGGGAGGGGGGAAGAGG GGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGG AAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAA GGGAGGGGAGGGGGAAGAGGGGAAGGGGGGAGGGGAGAGGAGGGAAGGGG GAAGAGGGGATGGGAGGGGAA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4256		chr17	TogoVar
PIMREG_chr17_6439455_6456469	6455724	G G	GGAGGGGA others(298): Show GGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGGG AGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGGAGGGGGAGAGG AGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGG GGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGG GAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGA AGAGGGGAAGGGGGGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGGA GGGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	312	0.0032	305	c.53 others(316): Show c.5377_*5378insGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGG AGGGGAGGAGATGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAG GGGGAGGGGGAGAGGAGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGG GGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGG AAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAA GGGAGGGGAGGGGGAAGAGGGGAAGGGGGGAGGGGAGAGGAGGGAAGGGG GAAGAGGGGATGGGAGGGGAA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4256		chr17	TogoVar
PIMREG_chr17_6439455_6456469	6455724	G G	GGAGGGGA others(298): Show GGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGGGAGGGGAGGGG GAAGAGGGGAGGGGAGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGGGAG GGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGG GGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGG AAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAA GAGGGGAAGGGGGGGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGGA GGGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0048 a0001c0001t0007g0048	1	312	0.0032	305	c.53 others(316): Show c.5377_*5378insGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGG AGGGGAGGGGAGGGGGAAGAGGGGAGGGGAGGGGAGGGGGAAGAGGGGAG GGGAGGAGATGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGG GAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGA AGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAG GGAGGGGAGGGGGAAGAGGGGAAGGGGGGGAGGGGAGAGGAGGGAAGGGG GAAGAGGGGATGGGAGGGGAA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4256		chr17	TogoVar
PIMREG_chr17_6439455_6456469	6455724	G G	GGAGGGGA others(298): Show GGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGGGAGGGGAGGGG GAAGAGGGGAGGGGAGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGGGAG GGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAGGG AAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGG AAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAA GAGGGGAAGGGGGGGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGGA GGGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0035 a0001c0001t0005g0035	1	312	0.0032	305	c.53 others(316): Show c.5377_*5378insGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGG AGGGGAGGGGAGGGGGAAGAGGGGAGGGGAGGGGAGGGGGAAGAGGGGAG GGGAGGAGATGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGG GAGGGGAGAGGAGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGA AGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAG GGAGGGGAGGGGGAAGAGGGGAAGGGGGGGAGGGGAGAGGAGGGAAGGGG GAAGAGGGGATGGGAGGGGAA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4256		chr17	TogoVar
PIMREG_chr17_6439455_6456469	6455724	G G	GGAGGGGA others(298): Show GGAGGGGAGGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGG GAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGA GGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGG GGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGG GAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGA AGAGGGGAAGGGGGGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGGA GGGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0137 a0001c0001t0003g0137	1	312	0.0032	305	c.53 others(316): Show c.5377_*5378insGAGGGGAGGGGGGAAGAGGGGAGGGGGAAGAGGG GAGGGGAGGAGATGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATA GGGGAGGGGAGAGGAGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGG GGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGG AAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAA GGGAGGGGAGGGGGAAGAGGGGAAGGGGGGAGGGGAGAGGAGGGAAGGGG GAAGAGGGGATGGGAGGGGAA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4256		chr17	TogoVar
PIMREG_chr17_6439455_6456469	6455724	G G	GGAGGGGA others(298): Show GGAGGGGAGGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGG GAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGA GGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGG GGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAGGGAGGGGAGGGGG AAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGGA AGAGGGGAAGGGGGGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGGA GGGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0038 a0001c0001t0003g0038	1	312	0.0032	305	c.53 others(316): Show c.5377_*5378insGAGGGGAGGGGGGAAGAGGGGAGGGGGAAGAGGG GAGGGGAGGAGATGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATA GGGGAGGGGAGAGGAGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGG GGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGG AGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAG GGAGGGGAGGGGGGAAGAGGGGAAGGGGGGAGGGGAGAGGAGGGAAGGGG GAAGAGGGGATGGGAGGGGAA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4256		chr17	TogoVar
PIMREG_chr17_6439455_6456469	6455724	G G	GGAGGGGG others(298): Show GGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGG AGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAG GGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGG GGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGG AAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGGGGGAAGAGGGGA AGGGGAGAGGAGGGGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGGA GGGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01517.hp2 NA19081.hp2 HG01517.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0030 a0001c0001t0001g0001 a0001c0001t0001g0030	2	312	0.0064	305	c.53 others(316): Show c.5377_*5378insGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAT AGGGGAGGGGAGAGGAGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAG GGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGG GAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGA AGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAG GGGGGGAAGAGGGGAAGGGGAGAGGAGGGGAGGGGAGAGGAGGGAAGGGG GAAGAGGGGATGGGAGGGGAA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4256		chr17	TogoVar
PIR_chrX_15379799_15498333	15401360	G G	GTAAACCT others(298): Show GTAAACCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCT CACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGA	intron_variant intron_variant	MODIFIER	HG06807.hp1 NA18522.hp1 NA20129.hp2 HG06807.hp1 NA18522.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0096 a0001c0001t0003g0125 a0001c0001t0003g0157 a0001c0001t0003g0096 a0001c0001t0003g0125 a0001c0001t0003g0157	3	272	0.0110	305	c.611 others(322): Show c.611-3830_611-3829insTCCTGTAATCCCAGCACTTTGGGAGGCC GAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAA GGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTG GCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAG TCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAA AAAAAAAAAAAAAAAAAGAAAGGTTTA	PIR	ENSG00000087842.11	transcript	ENST00000380420.10	protein_coding	7/9			chrX	TogoVar
PITPNM3_chr17_6446263_6561555	6455724	G G	GGAGGGGA others(298): Show GGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGGG AGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAG GGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGG GGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGG AAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAA GAGGGGAAGGGGGGGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGGA GGGGAA	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0071 a0001c0003t0071	a0001c0003t0071g0161 a0001c0003t0071g0161	1	218	0.0046	305	c.262 others(320): Show c.2620-82_2620-81insTTCCCCTCCCATCCCCTCTTCCCCCTTCCC TCCTCTCCCCTCCCCCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTC TTCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTT CCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCC CCCTCCCCTCCCCTCTTCCCTCTTCCCTCCTCTCCCCTCCCCTATTCCCC CTCCCCTCCCTTCCCCTCTTCCCCCTCCCATCTCCTCCCCTCCCCTCTTC CCCCTCCCCTCTTCCCCCTCCCCTC	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding	19/19			chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6455724	G G	GGAGGGGA others(298): Show GGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGGGAGGGGAGGGG GAAGAGGGGAGGGGAGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGGGAG GGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGG GGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGG AAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAA GAGGGGAAGGGGGGGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGGA GGGGAA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0031 a0001c0002t0031	a0001c0002t0031g0132 a0001c0002t0031g0132	1	218	0.0046	305	c.262 others(320): Show c.2620-82_2620-81insTTCCCCTCCCATCCCCTCTTCCCCCTTCCC TCCTCTCCCCTCCCCCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTC TTCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTT CCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCC CCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCATCTCCTCCCCTCCCCTCT TCCCCCTCCCCTCCCCTCCCCTCTTCCCCCTCCCCTCCCCTCCCCTCTTC CCCCTCCCCTCTTCCCCCTCCCCTC	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding	19/19			chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6455724	G G	GGAGGGGA others(298): Show GGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGGGAGGGGAGGGG GAAGAGGGGAGGGGAGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGGGAG GGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAGGG AAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGG AAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAA GAGGGGAAGGGGGGGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGGA GGGGAA	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0082 a0001c0001t0082	a0001c0001t0082g0121 a0001c0001t0082g0121	1	218	0.0046	305	c.262 others(320): Show c.2620-82_2620-81insTTCCCCTCCCATCCCCTCTTCCCCCTTCCC TCCTCTCCCCTCCCCCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTC TTCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTT CCCCCTCCCCTCCCCTCTTCCCTCTTCCCTCCTCTCCCCTCCCCTATTCC CCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCATCTCCTCCCCTCCCCTCT TCCCCCTCCCCTCCCCTCCCCTCTTCCCCCTCCCCTCCCCTCCCCTCTTC CCCCTCCCCTCTTCCCCCTCCCCTC	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding	19/19			chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6455724	G G	GGAGGGGA others(298): Show GGAGGGGAGGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGG GAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGA GGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGG GGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGG GAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGA AGAGGGGAAGGGGGGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGGA GGGGAA	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0064 a0001c0006t0064	a0001c0006t0064g0015 a0001c0006t0064g0015	1	218	0.0046	305	c.262 others(320): Show c.2620-82_2620-81insTTCCCCTCCCATCCCCTCTTCCCCCTTCCC TCCTCTCCCCTCCCCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCT TCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTC CCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCCC CCTCCCCTCCCCTCTTCCCTCTTCCCTCCTCTCCCCTCCCCTATTCCCCC TCCCCTCCCTTCCCCTCTTCCCCCTCCCATCTCCTCCCCTCCCCTCTTCC CCCTCCCCTCTTCCCCCCTCCCCTC	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding	19/19			chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6455724	G G	GGAGGGGG others(298): Show GGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGG AGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAG GGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGG GGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGG AAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGGGGGAAGAGGGGA AGGGGAGAGGAGGGGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGGA GGGGAA	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19081.hp1 NA19012.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0149 a0001c0001t0001g0021 a0001c0001t0001g0149	2	218	0.0092	305	c.262 others(320): Show c.2620-82_2620-81insTTCCCCTCCCATCCCCTCTTCCCCCTTCCC TCCTCTCCCCTCCCCTCCTCTCCCCTTCCCCTCTTCCCCCCCTTCCCCTC TTCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTT CCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCC CCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCCCC CTCCCCTCCCCTCTTCCCTCTTCCCTCCTCTCCCCTCCCCTATTCCCCCT CCCCTCCCTTCCCCTCTTCCCCCTC	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding	19/19			chr17	TogoVar
PKN2_chr1_88679273_88841255	88753699	T T	TACACACT others(298): Show TACACACTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCAC TGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCT CCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02559.hp1 HG02886.hp1 others(3): Show HG02280.hp1 HG02559.hp1 HG02886.hp1 HG02970.hp2 NA20300.hp1 NA21309.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0012 a0001c0005t0004g0028 a0001c0005t0004g0029 others(3): Show a0001c0005t0004g0012 a0001c0005t0004g0028 a0001c0005t0004g0029 a0001c0005t0004g0030 a0001c0005t0004g0031 a0001c0005t0004g0032	6	330	0.0182	305	c.350 others(322): Show c.350-6513_350-6512insTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAA TCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCT AATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGAT GGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTG CTGGGATTACAGGCGTGACACACTTTT	PKN2	ENSG00000065243.20	transcript	ENST00000370521.8	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
PKP3_chr11_389209_409908	401613	G G	GCCCCGCT others(298): Show GCCCCGCTCACCCCCGGCCCGCTCACACCCGCCCCGCTCACCCCGGACCC CGCTCACCCCCGCCCCGCTCACACCCGACCCCGCTCACACCCGCCCCGCT CACCCCCGCCCCGCTCACCCCCGCCCCGCTCACCCCGGACCCCGCTCACC CCCGCCCCGCTCACACCCGACCCCGCTCACACCCGCCCCGCTCACCCCCG CCCCGCTCACCCCCGCCCCGCTCACCCCGGACCCCGCTCACACCCGGCCC GCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGCCCCGCTC ACCCCC	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0070 a0001c0004t0001g0070	1	216	0.0046	305	c.173 others(322): Show c.1737+908_1737+909insCCCCGCTCACCCCCGGCCCGCTCACACC CGCCCCGCTCACCCCGGACCCCGCTCACCCCCGCCCCGCTCACACCCGAC CCCGCTCACACCCGCCCCGCTCACCCCCGCCCCGCTCACCCCCGCCCCGC TCACCCCGGACCCCGCTCACCCCCGCCCCGCTCACACCCGACCCCGCTCA CACCCGCCCCGCTCACCCCCGCCCCGCTCACCCCCGCCCCGCTCACCCCG GACCCCGCTCACACCCGGCCCGCTCACACCCGGCCCCGCTCACACCCGCC CCGCTCACCCCCGCCCCGCTCACCCCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12			chr11	TogoVar
PLCB1_chr20_8127266_8889900	8689956	T T	TGTCTCCA others(298): Show TGTCTCCAAATTTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GTTCTGTCGCCCAGGCGGGAGTGCTGTGGCACGATCTCCGCTCACTGCAA GCTCCGCCTTCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTCGTGATCCA CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGCC	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01261.hp2 HG03492.hp2 others(1): Show HG01071.hp1 HG01261.hp2 HG03492.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0005 a0001c0002 a0001c0003 a0001c0005	a0001c0002t0005 a0001c0003t0002 a0001c0005t0008 a0001c0002t0005 a0001c0003t0002 a0001c0005t0008	a0001c0002t0005g0056 a0001c0003t0002g0009 a0001c0003t0002g0090 others(1): Show a0001c0002t0005g0056 a0001c0003t0002g0009 a0001c0003t0002g0090 a0001c0005t0008g0003	4	106	0.0377	305	c.100 others(324): Show c.1009+4892_1009+4893insTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGTTCTGTCGCCCAGGCGGGAGTGCTGTGGCACGATCTCCGC TCACTGCAAGCTCCGCCTTCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCT CGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCGTCTCCAAATTTCT	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	10/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCB1_chr20_8127266_8889900	8689956	T T	TGTCTCCA others(298): Show TGTCTCCAAATTTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GTTCTGTCGCCCAGGCGGGAGTGCTGTGGCGCGATCTCCGCTCACTGCAA GCTCCGCCTTCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTCGTGATCCA CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGCC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00741.hp1 HG01071.hp2 others(33): Show HG00438.hp2 HG00741.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01175.hp1 HG01175.hp2 HG01261.hp1 HG01346.hp2 HG01517.hp1 HG01934.hp1 HG02280.hp1 HG02559.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp2 HG02896.hp2 HG02897.hp2 HG02970.hp1 HG03041.hp1 HG03130.hp2 HG03139.hp1 HG03492.hp1 HG03540.hp2 HG03834.hp2 NA18948.hp2 NA18950.hp2 NA18999.hp2 NA19003.hp2 NA19009.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0001c0009 a0001c0014 a0001c0021 a0001c0022 a0001c0023 a0002c0025 a0004c0012	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(23): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 a0001c0002t0001 a0001c0002t0005 a0001c0002t0012 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0008 a0001c0003t0009 a0001c0004t0002 a0001c0004t0003 a0001c0008t0001 a0001c0008t0012 a0001c0009t0002 a0001c0009t0007 a0001c0014t0002 a0001c0021t0001 a0001c0022t0015 a0001c0023t0003 a0002c0025t0001 a0004c0012t0002	a0001c0001t0001g0092 a0001c0001t0003g0012 a0001c0001t0003g0088 others(33): Show a0001c0001t0001g0092 a0001c0001t0003g0012 a0001c0001t0003g0088 a0001c0001t0004g0105 a0001c0001t0006g0096 a0001c0001t0011g0030 a0001c0002t0001g0031 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0005g0054 a0001c0002t0012g0041 a0001c0003t0001g0010 a0001c0003t0001g0034 a0001c0003t0001g0047 a0001c0003t0001g0083 a0001c0003t0001g0098 a0001c0003t0002g0089 a0001c0003t0003g0045 a0001c0003t0003g0070 a0001c0003t0004g0091 a0001c0003t0008g0004 a0001c0003t0009g0053 a0001c0004t0002g0073 a0001c0004t0003g0039 a0001c0008t0001g0099 a0001c0008t0001g0101 a0001c0008t0012g0104 a0001c0009t0002g0095 a0001c0009t0002g0103 a0001c0009t0007g0080 a0001c0014t0002g0072 a0001c0021t0001g0094 a0001c0022t0015g0100 a0001c0023t0003g0106 a0002c0025t0001g0044 a0004c0012t0002g0001	36	106	0.3396	305	c.100 others(324): Show c.1009+4892_1009+4893insTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGTTCTGTCGCCCAGGCGGGAGTGCTGTGGCGCGATCTCCGC TCACTGCAAGCTCCGCCTTCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCT CGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCGTCTCCAAATTTCT	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	10/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCB1_chr20_8127266_8889900	8689956	T T	TGTCTCCA others(298): Show TGTCTCCAAATTTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GTTCTGTCGCCCAGGCGGGAGTGCTGTGGCGCGATCTCCGCTCACTGCAA GCTCCGCCTTCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTCGTGATCCG CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGCC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0086 a0001c0010t0001g0086	1	106	0.0094	305	c.100 others(324): Show c.1009+4892_1009+4893insTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGTTCTGTCGCCCAGGCGGGAGTGCTGTGGCGCGATCTCCGC TCACTGCAAGCTCCGCCTTCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCGTCTCCAAATTTCT	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	10/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PNMA5_chrX_152983824_152999116	152998738	T T	TTTATATA others(298): Show TTTATATATAATATATAATATATATTTATATAAAAATATATAATATATAT TTATATAAAAATATATTATATATAATATAATTATTATATATAAAAATATA TTTATATATATTATATTATATATAATATATTATATAATATAATATATATA TAATATATTATATATATTATATTATATATAATATATTATATATAATATAT TATATATAATATATTATATATATTATATATAATATATTATATATATTATA TTATATATAATATATTATATATATTATATTATATATAATATATTATATAT ATTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	286	0.0035	305	c.-50 others(316): Show c.-5036_-5035insTATAATATATATAATATATTATATATAATATAAT ATATATAATATATTATATATAATATAATATATATAATATATTATATATAA TATATATAATATATTATATATAATATATTATATATAATATATTATATATA ATATAATATATATAATATATTATATATATATTATATTATATAATATATTA TATATAATATAATATATATAAATATATTTTTATATATAATAATTATATTA TATATAATATATTTTTATATAAATATATATTATATATTTTTATATAAATA TATATTATATATTATATATAA	PNMA5	ENSG00000198883.12	transcript	ENST00000535214.6	protein_coding		4623		chrX	TogoVar
PNMA5_chrX_152983824_152999116	152998738	T T	TTTATATA others(298): Show TTTATATATAATATATAATATATATTTATATAAAAATATATAATATATAT TTATATAAAAATATATTATATATAATATAATTATTATATATAAAAATATA TTTATATATATTATATTATATATAATATATTATATATAATATATTATATA TAATATAATATATATATTATATTATATATAATATATTATATATAATATAT TATATATAATATATTATATATATTATATATAATATATTATATATATTATA TTATATATAATATATTATATATATTATATTATATATAATATATTATATAT ATTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	286	0.0035	305	c.-50 others(316): Show c.-5036_-5035insTATAATATATATAATATATTATATATAATATAAT ATATATAATATATTATATATAATATAATATATATAATATATTATATATAA TATATATAATATATTATATATAATATATTATATATAATATATTATATATA ATATAATATATATATTATATTATATATAATATATTATATATAATATATTA TATATAATATAATATATATAAATATATTTTTATATATAATAATTATATTA TATATAATATATTTTTATATAAATATATATTATATATTTTTATATAAATA TATATTATATATTATATATAA	PNMA5	ENSG00000198883.12	transcript	ENST00000535214.6	protein_coding		4623		chrX	TogoVar
PNMA5_chrX_152983824_152999116	152998738	T T	TTTATATA others(298): Show TTTATATATAATATATAATATATATTTATATAAAAATATATAATATATAT TTATATAAAAATATATTATATATAATATAATTATTATATATAAAAATATA TTTATATATATTATATTATATATAATATATTATATATAATATATTATATA TAATATATTATATATAATATATTATATATAATATATTATATATAATATAT TATATATAATATATTATATATATTATATATAATATATTATATATATTATA TTATATATAATATATTATATATATTATATTATATATAATATATTATATAT ATTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0020 a0003c0004t0020	a0003c0004t0020g0050 a0003c0004t0020g0050	1	286	0.0035	305	c.-50 others(316): Show c.-5036_-5035insTATAATATATATAATATATTATATATAATATAAT ATATATAATATATTATATATAATATAATATATATAATATATTATATATAA TATATATAATATATTATATATAATATATTATATATAATATATTATATATA ATATATTATATATAATATATTATATATAATATATTATATATAATATATTA TATATAATATAATATATATAAATATATTTTTATATATAATAATTATATTA TATATAATATATTTTTATATAAATATATATTATATATTTTTATATAAATA TATATTATATATTATATATAA	PNMA5	ENSG00000198883.12	transcript	ENST00000535214.6	protein_coding		4623		chrX	TogoVar
PNMA5_chrX_152983824_152999116	152998738	T T	TTTATATA others(298): Show TTTATATATAATATATAATATATATTTATATAAAAATATATAATATATAT TTATATAAAAATATATTATATATAATATAATTATTATATATAAAAATATA TTTATATATATTATATTATATATAATATATTATATATAATATATTATATA TAATATATTATATATATTATATTATATATAATATATTATATATAATATAT TATATATAATATATTATATATATTATATATAATATATTATATATAATATA TTATATATAATATATTATATATATTATATTATATATAATATATTATATAT ATTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG02132.hp1 NA18943.hp1 others(4): Show HG00639.hp2 HG02132.hp1 NA18943.hp1 NA18950.hp1 NA18980.hp1 NA18988.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0051 a0001c0001t0002g0004 a0001c0001t0002g0051	7	286	0.0245	305	c.-50 others(316): Show c.-5036_-5035insTATAATATATATAATATATTATATATAATATAAT ATATATAATATATTATATATAATATATTATATATAATATATTATATATAA TATATATAATATATTATATATAATATATTATATATAATATATTATATATA ATATAATATATATAATATATTATATATAATATATTATATATAATATATTA TATATAATATAATATATATAAATATATTTTTATATATAATAATTATATTA TATATAATATATTTTTATATAAATATATATTATATATTTTTATATAAATA TATATTATATATTATATATAA	PNMA5	ENSG00000198883.12	transcript	ENST00000535214.6	protein_coding		4623		chrX	TogoVar
PNMA5_chrX_152983824_152999116	152998738	T T	TTTATATA others(298): Show TTTATATATAATATATAATATATATTTATATAAAAATATATAATATATAT TTATATAAAAATATATTATATATAATATAATTATTATATATAAAAATATA TTTATATATATTATATTATATATAATATATTATATATAATATATTATATA TAATATATTATATATATTATATTATATATAATATATTATATATAATATAT TATATATAATATATTATATATATTATATATAATATATTATATATATTATA TTATATATAATATATTATATATATTATATTATATATAATATATTATATAT ATTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG00738.hp1 HG01074.hp1 others(22): Show HG00735.hp1 HG00738.hp1 HG01074.hp1 HG01123.hp2 HG01192.hp1 HG01943.hp1 HG01993.hp1 HG02559.hp1 HG02735.hp1 HG03239.hp1 HG03490.hp1 HG03491.hp1 HG03710.hp1 HG04115.hp1 NA18959.hp1 NA18964.hp2 NA18983.hp1 NA18999.hp2 NA19000.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19081.hp1 NA19086.hp1 NA19087.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0003 a0001c0001 a0008c0003	a0001c0001t0002 a0001c0001t0007 a0001c0001t0016 others(1): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0016 a0008c0003t0002	a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0011 others(6): Show a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0011 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0052 a0001c0001t0007g0040 a0001c0001t0016g0039 a0008c0003t0002g0038	25	286	0.0874	305	c.-50 others(316): Show c.-5036_-5035insTATAATATATATAATATATTATATATAATATAAT ATATATAATATATTATATATAATATAATATATATAATATATTATATATAA TATATATAATATATTATATATAATATATTATATATAATATATTATATATA ATATAATATATATAATATATTATATATAATATATTATATATAATATATTA TATATAATATAATATATATAAATATATTTTTATATATAATAATTATATTA TATATAATATATTTTTATATAAATATATATTATATATTTTTATATAAATA TATATTATATATTATATATAA	PNMA5	ENSG00000198883.12	transcript	ENST00000535214.6	protein_coding		4623		chrX	TogoVar

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Search Results (Total: 10000 hits)