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
PNLDC1_chr6_159795276_159825704	159816140	G G	GCCACACC others(93): Show GCCACACCCCTCCCCACCCACCCGCCACACCCCTCCCCTCCCCCCCACCC CCCCCACCCCACCCACACCCCTCCCCGCCCCCCCACACCCCTCCCCGCCC C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02965.hp1 HG02970.hp1 others(2): Show HG02647.hp2 HG02965.hp1 HG02970.hp1 HG03098.hp1 HG03516.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0010 a0001c0001 a0004c0010	a0001c0001t0001 a0004c0010t0001 a0001c0001t0001 a0004c0010t0001	a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 others(2): Show a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0189 a0004c0010t0001g0183	5	400	0.0125	100	c.106 others(117): Show c.1060+125_1060+126insACCCGCCACACCCCTCCCCTCCCCCCCA CCCCCCCCACCCCACCCACACCCCTCCCCGCCCCCCCACACCCCTCCCCG CCCCCCACACCCCTCCCCACCC	PNLDC1	ENSG00000146453.13	transcript	ENST00000392167.4	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr6	TogoVar
POLD1_chr19_50379347_50423014	50401357	G G	GTGTATAT others(93): Show GTGTATATGTGTATATATATATGTATATGTGTATATATATATATATATGT ATATGTGTATATATATATATATATGTATATGTGTGTGTATATATATATAT A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02896.hp1 HG02897.hp2 others(2): Show HG02451.hp2 HG02896.hp1 HG02897.hp2 NA19043.hp2 NA21309.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0007 a0001c0009t0001g0008 a0001c0009t0001g0010 others(2): Show a0001c0009t0001g0007 a0001c0009t0001g0008 a0001c0009t0001g0010 a0001c0009t0001g0011 a0001c0009t0001g0012	5	336	0.0149	100	c.317 others(115): Show c.317-400_317-399insGTATATGTGTATATATATATATATATGTAT ATGTGTATATATATATATATATGTATATGTGTGTGTATATATATATATAT GTATATGTGTATATATATAT	POLD1	ENSG00000062822.16	transcript	ENST00000440232.7	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr19	TogoVar
POLG_chr15_89311320_89339824	89325259	T T	TGAGTGAG others(93): Show TGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAG AGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAG A	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0194 a0002c0002t0001g0194	1	398	0.0025	100	c.194 others(117): Show c.1949+190_1949+191insTCTCACTCACTCTCTCACTCACTCTCTC ACTCACTCACTCTCTCACTCACTCTCTCACTCACTCACTCTCTCACTCTC TCACTCACTCACTCACTCACTC	POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding	10/22			chr15	TogoVar
POR_chr7_75910155_75991855	75988765	A A	AGAAGGCC others(93): Show AGAAGGCCGGGTAGGGGGGTGGAGGAGAAGGCCGGGTGGGGGGGTGGAGG GGAAGGCCGGGTGGGGGGGTGGAGGGGAAGGCCGGGTGGGGGGGTGGAGG G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG01192.hp1 HG02129.hp2 others(5): Show HG01070.hp1 HG01192.hp1 HG02129.hp2 HG02523.hp1 HG03017.hp1 NA18747.hp1 NA18945.hp2 NA19058.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0004 a0002c0001t0002 a0002c0001t0004	a0002c0001t0002g0058 a0002c0001t0002g0083 a0002c0001t0002g0177 others(5): Show a0002c0001t0002g0058 a0002c0001t0002g0083 a0002c0001t0002g0177 a0002c0001t0002g0206 a0002c0001t0002g0212 a0002c0001t0004g0054 a0002c0001t0004g0066 a0002c0001t0004g0082	8	278	0.0288	100	c.22 others(111): Show c.2284_*2285insGAAGGCCGGGTAGGGGGGTGGAGGAGAAGGCCGG GTGGGGGGGTGGAGGGGAAGGCCGGGTGGGGGGGTGGAGGGGAAGGCCGG GTGGGGGGGTGGAGGG	POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding		1911		chr7	TogoVar
POR_chr7_75910155_75991855	75988765	A A	AGGCCGGG others(93): Show AGGCCGGGTGGGGGGGTGGAGGGGAAGAAGGCCGGGTAGGGGGGTGGAGG AGAAGGCCGGGTGGGGGGGTGGAGGGGAAGGCCGGGTGGGGGGGTGGAGG G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02723.hp2 HG02622.hp1 HG02723.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0276 a0002c0001t0002g0278 a0002c0001t0002g0276 a0002c0001t0002g0278	2	278	0.0072	100	c.22 others(111): Show c.2284_*2285insGGCCGGGTGGGGGGGTGGAGGGGAAGAAGGCCGG GTAGGGGGGTGGAGGAGAAGGCCGGGTGGGGGGGTGGAGGGGAAGGCCGG GTGGGGGGGTGGAGGG	POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding		1911		chr7	TogoVar
POR_chr7_75910155_75991855	75988901	T T	TGGGGGGG others(93): Show TGGGGGGGTGGAGGGGAAGGCCGGGTGGGGGGGTGGAGGGGAAGGCGGGG AGGGGGTGTGGAGGGGAAGGCGGGGAGGGGGTGTGGAGGGGAAGGCGGGG A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18999.hp1 NA19085.hp2 NA18999.hp1 NA19085.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0158 a0002c0001t0002g0159 a0002c0001t0002g0158 a0002c0001t0002g0159	2	278	0.0072	100	c.24 others(111): Show c.2420_*2421insGGGGGGGTGGAGGGGAAGGCCGGGTGGGGGGGTG GAGGGGAAGGCGGGGAGGGGGTGTGGAGGGGAAGGCGGGGAGGGGGTGTG GAGGGGAAGGCGGGGA	POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding		2047		chr7	TogoVar
POR_chr7_75910155_75991855	75988926	T T	TGGGGGGG others(93): Show TGGGGGGGTGGAGGGGAAGGCGGGGAGGGGGTGTGGAGGGGAAGGCGGGG AGGGGGTGTGGAGGGGAAGGCGGGGAGGGGGTGTGGAGGGGAAGGCGGGG A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0008 a0002c0001t0008	a0002c0001t0008g0149 a0002c0001t0008g0149	1	278	0.0036	100	c.24 others(111): Show c.2445_*2446insGGGGGGGTGGAGGGGAAGGCGGGGAGGGGGTGTG GAGGGGAAGGCGGGGAGGGGGTGTGGAGGGGAAGGCGGGGAGGGGGTGTG GAGGGGAAGGCGGGGA	POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding		2072		chr7	TogoVar
POR_chr7_75910155_75991855	75988957	G G	GGTGGAGG others(93): Show GGTGGAGGGGAAGGCCGGGTGGGGGGGTGGAGGGGAAGGCGGGGAGGGGG TGTGGAGGGGAAGGCGGGGAGGGGGTGTGGAGGGGAAGGCGGGGAGGGGG T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0001 a0002c0001t0002g0001	1	278	0.0036	100	c.24 others(111): Show c.2476_*2477insGTGGAGGGGAAGGCCGGGTGGGGGGGTGGAGGGG AAGGCGGGGAGGGGGTGTGGAGGGGAAGGCGGGGAGGGGGTGTGGAGGGG AAGGCGGGGAGGGGGT	POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding		2103		chr7	TogoVar
POTEM_chr14_18962434_19008752	18969357	G G	GTGTGTAT others(93): Show GTGTGTATATATATATATACACACATGTATATATATGTATATACGTATAT ATACGTATATACATATATATACATGTGTGTGTGTATATATATATATATAT A	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0002 a0009c0009t0002	a0009c0009t0002g0032 a0009c0009t0002g0032	1	67	0.0149	100	c.521 others(117): Show c.521+1352_521+1353insGTGTATATATATATATACACACATGTAT ATATATGTATATACGTATATATACGTATATACATATATATACATGTGTGT GTGTATATATATATATATATAT	POTEM	ENSG00000222036.8	transcript	ENST00000547889.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
POU6F2_chr7_38972909_39473601	38993611	A A	ACACACAC others(93): Show ACACACACACACACACACACACACACACACACACACACACACACACACAC ATCAGGCACTTGAACTGACACTGATCACTGATATTTGAATTGCAGGATTT T	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0009 a0009	a0009c0015 a0009c0015	a0009c0015t0001 a0009c0015t0001	a0009c0015t0001g0026 a0009c0015t0001g0026	1	170	0.0059	100	c.105 others(119): Show c.105+15553_105+15554insCACACACACACACACACACACACACA CACACACACACACACACACACACATCAGGCACTTGAACTGACACTGATCA CTGATATTTGAATTGCAGGATTTT	POU6F2	ENSG00000106536.21	transcript	ENST00000518318.7	protein_coding	1/9			chr7	TogoVar
PPA1_chr10_70197835_70238429	70206860	A A	AGGAGGGG others(93): Show AGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG G	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0256 a0001c0001t0003g0256	1	408	0.0025	100	c.726 others(115): Show c.726-528_726-527insCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCC	PPA1	ENSG00000180817.12	transcript	ENST00000373232.8	protein_coding	8/10			chr10	TogoVar
PPFIA1_chr11_70265690_70389396	70277041	T T	TATATATA others(93): Show TATATATATATATATTATAATATATATATATATTATAATATATATATATA TATTATAATATATATATATATATTATAATATATATATATATATATATTAT A	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0071 a0001c0001t0013g0071	1	282	0.0036	100	c.264 others(117): Show c.264+4619_264+4620insTATAATATATATATATATTATAATATAT ATATATATATTATAATATATATATATATATTATAATATATATATATATAT ATATTATAATATATATATATAT	PPFIA1	ENSG00000131626.19	transcript	ENST00000253925.12	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
PPFIA2_chr12_81252975_81764350	81584996	A A	AATATATT others(93): Show AATATATTATATATTAATTATATTTATATATAATATATTATATATTAATT ATATTTATATATAATATATTATATATTAATTATATTTATATATAATATAT T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02074.hp1 HG02080.hp1 others(15): Show HG00558.hp1 HG02074.hp1 HG02080.hp1 HG02129.hp2 HG02451.hp2 HG03239.hp1 HG03942.hp1 HG04199.hp1 NA18939.hp2 NA18955.hp1 NA18964.hp1 NA18986.hp1 NA18987.hp2 NA18994.hp1 NA19060.hp2 NA19064.hp1 NA19080.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0087 others(15): Show a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0087 a0001c0001t0001g0116 a0001c0001t0001g0141 a0001c0001t0002g0038 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0066 a0001c0001t0002g0090 a0001c0001t0002g0161 a0001c0001t0002g0166 a0001c0001t0006g0012 a0001c0001t0009g0076 a0001c0002t0001g0039 a0001c0002t0002g0051	18	168	0.1071	100	c.303 others(119): Show c.303+91794_303+91795insAATATATTATATATAAATATAATTAA TATATAATATATTATATATAAATATAATTAATATATAATATATTATATAT AAATATAATTAATATATAATATAT	PPFIA2	ENSG00000139220.17	transcript	ENST00000549396.6	protein_coding	4/32			chr12	TogoVar
PPFIA2_chr12_81252975_81764350	81584996	A A	AATATGTT others(93): Show AATATGTTATATATTAATTATATTTATATATAATATGTTATATATTAATT ATATTTATATATAATATGTTATATATTAATTATATTTATATATAATATAT T	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0007 a0001c0001t0005g0007	1	168	0.0060	100	c.303 others(119): Show c.303+91794_303+91795insAATATATTATATATAAATATAATTAA TATATAACATATTATATATAAATATAATTAATATATAACATATTATATAT AAATATAATTAATATATAACATAT	PPFIA2	ENSG00000139220.17	transcript	ENST00000549396.6	protein_coding	4/32			chr12	TogoVar
PPP2R2C_chr4_6315581_6477614	6336649	C C	CTCCCTCC others(93): Show CTCCCTCCCTCCTTCCCTCCCTCCCTCCCTGCTTCCATCCCTCCCTCCCT CCCTCCTTCCCTCCCTCCCTCCCTCCTTCCCTCCCTCCCTCCCTCCCTCC T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02622.hp1 NA19043.hp2 HG02257.hp2 HG02622.hp1 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0039 a0001c0002t0012 a0001c0002t0039	a0001c0002t0012g0019 a0001c0002t0012g0193 a0001c0002t0039g0196 a0001c0002t0012g0019 a0001c0002t0012g0193 a0001c0002t0039g0196	3	298	0.0101	100	c.791 others(117): Show c.791-2919_791-2918insAGGAGGGAGGGAGGGAGGGAGGGAAGGA GGGAGGGAGGGAGGGAAGGAGGGAGGGAGGGAGGGATGGAAGCAGGGAGG GAGGGAGGGAAGGAGGGAGGGA	PPP2R2C	ENSG00000074211.14	transcript	ENST00000382599.9	protein_coding	6/8			chr4	TogoVar
PPP2R2C_chr4_6315581_6477614	6336649	C C	CTCCCTCC others(93): Show CTCCCTCCCTCCTTCCTTCCCTCCCTCCCTGCTTCCATCCCTCCCTCCCT CCCTCCTTCCCTCCCTCCCTCCCTCCTTCCCTCCCTCCCTCCCTCCCTCC T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0207 a0001c0001t0002g0207	1	298	0.0034	100	c.791 others(117): Show c.791-2919_791-2918insAGGAGGGAGGGAGGGAGGGAGGGAAGGA GGGAGGGAGGGAGGGAAGGAGGGAGGGAGGGAGGGATGGAAGCAGGGAGG GAGGGAAGGAAGGAGGGAGGGA	PPP2R2C	ENSG00000074211.14	transcript	ENST00000382599.9	protein_coding	6/8			chr4	TogoVar
PPP2R2C_chr4_6315581_6477614	6336817	C C	CTCCCTCC others(93): Show CTCCCTCCCTCCTTCCCTCCCTCCCTCCCTCCTTCCCTCCCTCCCTCCCT CCTTCCCTCCCTCCCTCCCTGCTTCCATCCCTCCCTCCCTCCCTCCCTCC T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00738.hp1 HG01069.hp1 others(71): Show HG00639.hp2 HG00738.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp2 HG01256.hp1 HG01261.hp1 HG01261.hp2 HG01433.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01934.hp2 HG01978.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02083.hp1 HG02132.hp1 HG02135.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02735.hp2 HG02970.hp1 HG03209.hp1 HG03239.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03704.hp1 HG03710.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04204.hp1 HG04228.hp2 HG06807.hp1 NA18612.hp1 NA18951.hp1 NA18951.hp2 NA18962.hp1 NA18966.hp1 NA18971.hp1 NA18973.hp1 NA18973.hp2 NA18978.hp1 NA18995.hp1 NA19004.hp2 NA19056.hp2 NA19065.hp1 NA19065.hp2 NA19081.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0014 a0001c0001t0017 a0001c0001t0025 a0001c0001t0029 a0001c0001t0033 a0001c0001t0034 a0001c0001t0046 a0001c0002t0003 a0001c0002t0005 a0001c0002t0020 a0001c0002t0022 a0001c0002t0024 a0001c0002t0026 a0001c0002t0028 a0001c0002t0049 a0001c0002t0050 a0001c0005t0001 a0001c0009t0002	a0001c0001t0001g0013 a0001c0001t0001g0026 a0001c0001t0001g0027 others(71): Show a0001c0001t0001g0013 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0055 a0001c0001t0001g0080 a0001c0001t0001g0085 a0001c0001t0001g0097 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0131 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0153 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0167 a0001c0001t0001g0173 a0001c0001t0001g0220 a0001c0001t0001g0226 a0001c0001t0001g0230 a0001c0001t0001g0234 a0001c0001t0002g0032 a0001c0001t0002g0135 a0001c0001t0002g0137 a0001c0001t0002g0163 a0001c0001t0002g0171 a0001c0001t0002g0228 a0001c0001t0004g0268 a0001c0001t0004g0272 a0001c0001t0004g0279 a0001c0001t0004g0286 a0001c0001t0004g0292 a0001c0001t0006g0089 a0001c0001t0006g0091 a0001c0001t0007g0258 a0001c0001t0007g0270 a0001c0001t0007g0295 a0001c0001t0014g0248 a0001c0001t0014g0256 a0001c0001t0017g0081 a0001c0001t0017g0096 a0001c0001t0025g0255 a0001c0001t0029g0001 a0001c0001t0033g0082 a0001c0001t0034g0132 a0001c0001t0046g0284 a0001c0002t0003g0022 a0001c0002t0003g0024 a0001c0002t0003g0034 a0001c0002t0003g0043 a0001c0002t0003g0045 a0001c0002t0003g0061 a0001c0002t0003g0078 a0001c0002t0003g0148 a0001c0002t0003g0151 a0001c0002t0003g0217 a0001c0002t0003g0224 a0001c0002t0003g0225 a0001c0002t0005g0174 a0001c0002t0020g0192 a0001c0002t0022g0093 a0001c0002t0024g0122 a0001c0002t0026g0250 a0001c0002t0026g0252 a0001c0002t0028g0290 a0001c0002t0028g0291 a0001c0002t0049g0285 a0001c0002t0050g0281 a0001c0005t0001g0106 a0001c0005t0001g0107 a0001c0009t0002g0088	74	298	0.2483	100	c.791 others(117): Show c.791-3087_791-3086insAGGAGGGAGGGAGGGAGGGAGGGATGGA AGCAGGGAGGGAGGGAGGGAAGGAGGGAGGGAGGGAGGGAAGGAGGGAGG GAGGGAGGGAAGGAGGGAGGGA	PPP2R2C	ENSG00000074211.14	transcript	ENST00000382599.9	protein_coding	6/8			chr4	TogoVar
PPP4R2_chr3_72991811_73074198	73018452	T T	TGTTATGT others(93): Show TGTTATGTTATGTTATGTTATGTTTGTTATGTTATGTTATGTTATTTATG TTATGTTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTAT G	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0134 a0001c0001t0004g0134	1	360	0.0028	100	c.116 others(119): Show c.116+20294_116+20295insGTTATGTTATGTTATGTTATGTTTGT TATGTTATGTTATGTTATTTATGTTATGTTTATGTTATGTTATGTTATGT TATGTTATGTTATGTTATGTTATG	PPP4R2	ENSG00000163605.16	transcript	ENST00000356692.10	protein_coding	2/8			chr3	TogoVar
PPP4R2_chr3_72991811_73074198	73018452	T T	TGTTATGT others(93): Show TGTTATGTTATGTTATGTTATGTTTGTTATGTTATGTTATTTATGTTATG TTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTAT G	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0149 a0001c0001t0004g0149	1	360	0.0028	100	c.116 others(119): Show c.116+20294_116+20295insGTTATGTTATGTTATGTTATGTTTGT TATGTTATGTTATTTATGTTATGTTTATGTTATGTTATGTTATGTTATGT TATGTTATGTTATGTTATGTTATG	PPP4R2	ENSG00000163605.16	transcript	ENST00000356692.10	protein_coding	2/8			chr3	TogoVar
PPP4R2_chr3_72991811_73074198	73018452	T T	TGTTATGT others(93): Show TGTTATGTTATGTTATGTTTGTTATGTTATGTTATGTTATTTATGTTATG TTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTAT G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02083.hp2 HG01109.hp1 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0057 a0001c0001t0008 a0001c0001t0057	a0001c0001t0008g0143 a0001c0001t0057g0153 a0001c0001t0008g0143 a0001c0001t0057g0153	2	360	0.0056	100	c.116 others(119): Show c.116+20294_116+20295insGTTATGTTATGTTATGTTTGTTATGT TATGTTATGTTATTTATGTTATGTTTATGTTATGTTATGTTATGTTATGT TATGTTATGTTATGTTATGTTATG	PPP4R2	ENSG00000163605.16	transcript	ENST00000356692.10	protein_coding	2/8			chr3	TogoVar
PRDM16_chr1_3064203_3443621	3181281	T T	TGGTCTTA others(93): Show TGGTCTTACACAAGCAGTCTTACACAAGCAGTCTTACACACGGTCTTACA CACACAGTCTTACACACGGTCTTACACACGCAGTCTTACGGTCTTACACA C	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02886.hp2 HG02723.hp1 HG02886.hp2	a0001 a0002 a0001 a0002	a0001c0022 a0002c0030 a0001c0022 a0002c0030	a0001c0022t0057 a0002c0030t0047 a0001c0022t0057 a0002c0030t0047	a0001c0022t0057g0139 a0002c0030t0047g0206 a0001c0022t0057g0139 a0002c0030t0047g0206	2	210	0.0095	100	c.38- others(115): Show c.38-4833_38-4832insAGCAGTCTTACACAAGCAGTCTTACACACG GTCTTACACACACAGTCTTACACACGGTCTTACACACGCAGTCTTACGGT CTTACACACGGTCTTACACA	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3181359	C C	CACGGTCT others(93): Show CACGGTCTTACACACGCAGTCTTACGGTCTTACACACGGTCTTACACACA CGGTCTTACACACAGTCTTACACACGCAGTCTTACACACGGCCTTACGCA T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00438.hp1 others(36): Show HG00280.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00639.hp1 HG01069.hp1 HG01070.hp2 HG01081.hp2 HG01123.hp1 HG01169.hp2 HG01243.hp1 HG01255.hp1 HG01361.hp1 HG01496.hp1 HG01517.hp2 HG01891.hp1 HG02004.hp2 HG02056.hp2 HG02109.hp1 HG02132.hp2 HG02273.hp2 HG02602.hp1 HG02615.hp2 HG02647.hp1 HG02965.hp1 HG03195.hp1 HG03239.hp1 HG03453.hp1 HG03516.hp1 HG03654.hp2 HG04204.hp2 NA18612.hp1 NA18747.hp1 NA19043.hp2 NA19074.hp2 NA19080.hp1 NA19091.hp2 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0004 others(8): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0014 a0001c0021 a0001c0031 a0002c0003 a0002c0007 a0003c0005 a0003c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0001t0018 a0001c0001t0022 a0001c0001t0023 a0001c0001t0058 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0016 a0001c0002t0017 a0001c0002t0036 a0001c0004t0007 a0001c0004t0010 a0001c0006t0011 a0001c0006t0013 a0001c0014t0030 a0001c0014t0068 a0001c0021t0049 a0001c0031t0037 a0002c0003t0001 a0002c0003t0002 a0002c0003t0006 a0002c0003t0013 a0002c0003t0051 a0002c0007t0019 a0003c0005t0009 a0003c0011t0001	a0001c0001t0001g0119 a0001c0001t0001g0175 a0001c0001t0001g0183 others(36): Show a0001c0001t0001g0119 a0001c0001t0001g0175 a0001c0001t0001g0183 a0001c0001t0001g0190 a0001c0001t0002g0086 a0001c0001t0002g0176 a0001c0001t0005g0184 a0001c0001t0006g0155 a0001c0001t0012g0041 a0001c0001t0014g0132 a0001c0001t0016g0035 a0001c0001t0018g0164 a0001c0001t0022g0061 a0001c0001t0023g0112 a0001c0001t0058g0043 a0001c0002t0001g0095 a0001c0002t0001g0116 a0001c0002t0002g0091 a0001c0002t0003g0147 a0001c0002t0016g0195 a0001c0002t0017g0177 a0001c0002t0036g0157 a0001c0004t0007g0063 a0001c0004t0010g0032 a0001c0006t0011g0065 a0001c0006t0013g0133 a0001c0014t0030g0178 a0001c0014t0068g0159 a0001c0021t0049g0023 a0001c0031t0037g0156 a0002c0003t0001g0018 a0002c0003t0002g0102 a0002c0003t0006g0050 a0002c0003t0013g0137 a0002c0003t0051g0079 a0002c0007t0019g0020 a0003c0005t0009g0136 a0003c0011t0001g0056 a0003c0011t0001g0057	39	210	0.1857	100	c.38- others(115): Show c.38-4766_38-4765insACGGTCTTACACACGCAGTCTTACGGTCTT ACACACGGTCTTACACACACGGTCTTACACACAGTCTTACACACGCAGTC TTACACACGGCCTTACGCAT	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16			chr1	TogoVar
PRDM16_chr1_3064203_3443621	3181565	C C	CGGTCTTA others(93): Show CGGTCTTACACACGCAGTCTTACACAAGCAGTCTTACACACGGTCTTACA CACAGTCTTACACACGGTCTTACACACACGGTCTTACACAGTCTTACACA T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02809.hp2 HG02976.hp1 others(4): Show HG01884.hp1 HG02809.hp2 HG02976.hp1 HG03195.hp2 HG03471.hp2 NA19030.hp1 NA20300.hp1	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0010	a0001c0001 a0001c0004 a0002c0007 others(2): Show a0001c0001 a0001c0004 a0002c0007 a0007c0024 a0010c0019	a0001c0001t0012 a0001c0001t0013 a0001c0001t0086 others(4): Show a0001c0001t0012 a0001c0001t0013 a0001c0001t0086 a0001c0004t0010 a0002c0007t0002 a0007c0024t0007 a0010c0019t0002	a0001c0001t0012g0129 a0001c0001t0013g0002 a0001c0001t0086g0033 others(4): Show a0001c0001t0012g0129 a0001c0001t0013g0002 a0001c0001t0086g0033 a0001c0004t0010g0130 a0002c0007t0002g0045 a0007c0024t0007g0173 a0010c0019t0002g0028	7	210	0.0333	100	c.38- others(115): Show c.38-4559_38-4558insGTCTTACACACGCAGTCTTACACAAGCAGT CTTACACACGGTCTTACACACAGTCTTACACACGGTCTTACACACACGGT CTTACACAGTCTTACACATG	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRIM2_chr6_57312630_57651850	57470413	C C	CCCCCTCC others(93): Show CCCCCTCCTCCCCCTCTCCCCTCTCCCCTCCTCCCCTCTCCCCCTCTCCC CCTCTCCCTCTCCCCTCTCCCTCTCCCCTCTCCCCTCTCACCCTCCCCTC T	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0160 a0001c0001t0002g0160	1	300	0.0033	100	c.694 others(119): Show c.694-36971_694-36970insCTCCTCCCCCTCTCCCCTCTCCCCTC CTCCCCTCTCCCCCTCTCCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCTC TCCCCTCTCACCCTCCCCTCTCCC	PRIM2	ENSG00000146143.19	transcript	ENST00000615550.5	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
PRKAG2_chr7_151551127_151882115	151855034	C C	CCACACAC others(93): Show CCACACACACCATCCACACACCACCCTCCACACACCACCCTCCACACACA CCACTTTACACACACGCCACCCTCCACACACCACCCTCCACACACACTTT A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0210 a0001c0001t0028g0210	1	252	0.0040	100	c.114 others(119): Show c.114+21472_114+21473insTAAAGTGTGTGTGGAGGGTGGTGTGT GGAGGGTGGCGTGTGTGTAAAGTGGTGTGTGTGGAGGGTGGTGTGTGGAG GGTGGTGTGTGGATGGTGTGTGTG	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15			chr7	TogoVar
PRKN_chr6_161342417_162732766	162010868	T T	TTATATAA others(93): Show TTATATAATATATTATATAATATATTATATAACATATTATATAATATATA TTATATAATGTATAATATATATAATATATTATATAATATATAATATTAAT A	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0003 a0003c0006t0003	a0003c0006t0003g0004 a0003c0006t0003g0004	1	32	0.0313	100	c.619 others(119): Show c.619-37452_619-37451insTATTAATATTATATATTATATAATAT ATTATATATATTATACATTATATAATATATATTATATAATATGTTATATA ATATATTATATAATATATTATATA	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	5/11			chr6	TogoVar
PRPF31_chr19_54110754_54136713	54133764	T T	TCTCTTCC others(93): Show TCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCT CCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTC C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	227	0.0044	100	c.23 others(111): Show c.2332_*2333insCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTT CCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTG TCTCCACCTCCCCTCC	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2052		chr19	TogoVar
PRPF31_chr19_54110754_54136713	54133778	T T	TCTCCACC others(93): Show TCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCA CCTCCCCTCCCTCTGTCCCTCCCTCTCTCTACCTCCTCTCTCTCTCCCTC C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	227	0.0044	100	c.23 others(111): Show c.2346_*2347insCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCA CCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCTACCTC CTCTCTCTCTCCCTCC	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2066		chr19	TogoVar
PRR5L_chr11_36291288_36470204	36350998	A A	ATATATTT others(93): Show ATATATTTATATATTTATATATATTTATATATTTATATATTTATATATTT ATATATATTTATATATTTATATATTTATATATATTTATATATTTATATAT T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02630.hp2 HG02723.hp2 HG02622.hp2 HG02630.hp2 HG02723.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0009 a0001c0001 a0004c0009	a0001c0001t0002 a0004c0009t0002 a0001c0001t0002 a0004c0009t0002	a0001c0001t0002g0054 a0004c0009t0002g0211 a0004c0009t0002g0212 a0001c0001t0002g0054 a0004c0009t0002g0211 a0004c0009t0002g0212	3	272	0.0110	100	c.-12 others(121): Show c.-125-49994_-125-49993insTTATATATTTATATATATTTATAT ATTTATATATTTATATATTTATATATATTTATATATTTATATATTTATAT ATATTTATATATTTATATATTTATAT	PRR5L	ENSG00000135362.14	transcript	ENST00000530639.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
PTHLH_chr12_27953084_27977733	27961303	A A	ATATATAT others(93): Show ATATATATACGTATATATATATATACACGTATATATATACGTATATATAT ATACGTATATATATACGTGTATATATATATATATACGTATATATATACGT G	intron_variant intron_variant	MODIFIER	HG03098.hp2 NA19043.hp1 HG03098.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	2	456	0.0044	100	c.524 others(117): Show c.524+2044_524+2045insCACGTATATATATACGTATATATATATA TATACACGTATATATATACGTATATATATATACGTATATATATACGTGTA TATATATATATACGTATATATA	PTHLH	ENSG00000087494.16	transcript	ENST00000545234.6	protein_coding	5/5			chr12	TogoVar
PTMA_chr2_231703525_231718551	231715726	T T	TGGACTCC others(93): Show TGGACTCCACGCACCCTCACTGGACTCCACGCACCCTCACCGGACTCCAC GCACCCTCACTGGACTCCACGCACCCTCACTGGACTCCACGCACCCTCAC C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02723.hp1 HG02976.hp2 others(1): Show HG02615.hp2 HG02723.hp1 HG02976.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0031 a0001c0001t0001g0013 a0001c0001t0001g0031	4	392	0.0102	100	c.28 others(111): Show c.2875_*2876insGGACTCCACGCACCCTCACTGGACTCCACGCACC CTCACCGGACTCCACGCACCCTCACTGGACTCCACGCACCCTCACTGGAC TCCACGCACCCTCACC	PTMA	ENSG00000187514.17	transcript	ENST00000409115.8	protein_coding		2176		chr2	TogoVar
PTMA_chr2_231703525_231718551	231715892	A A	ACTCACTG others(93): Show ACTCACTGGACTCCACACATCCTCACTGGACTCCACACATCCTCAGTGGA CTCCACACATTCTCACTGGACTCTACAGACCCTCACTGGACTCCACGCTC C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG01123.hp1 HG00323.hp1 HG01123.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0020 a0001c0002t0001g0020	2	392	0.0051	100	c.30 others(111): Show c.3041_*3042insCTCACTGGACTCCACACATCCTCACTGGACTCCA CACATCCTCAGTGGACTCCACACATTCTCACTGGACTCTACAGACCCTCA CTGGACTCCACGCTCC	PTMA	ENSG00000187514.17	transcript	ENST00000409115.8	protein_coding		2342		chr2	TogoVar
PTPRB_chr12_70510870_70642429	70626304	T T	TATCTATC others(93): Show TATCTATCTATCTATCGTGCCTTTTTAACAGAGAGCAAATCATCTGGAAA AAAGATAACAAATGAAACAGGAGATACTTTAGAAAAGGATGATGTCTATC C	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0001 a0001c0029t0001	a0001c0029t0001g0007 a0001c0029t0001g0007	1	300	0.0033	100	c.452 others(117): Show c.452-3659_452-3658insGGATAGACATCATCCTTTTCTAAAGTAT CTCCTGTTTCATTTGTTATCTTTTTTCCAGATGATTTGCTCTCTGTTAAA AAGGCACGATAGATAGATAGAT	PTPRB	ENSG00000127329.16	transcript	ENST00000334414.11	protein_coding	2/33			chr12	TogoVar
PTPRJ_chr11_47975559_48175839	48049515	T T	TAAAACAA others(93): Show TAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAA CAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAA C	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0036 a0005c0012t0036	a0005c0012t0036g0018 a0005c0012t0036g0018	1	216	0.0046	100	c.97- others(117): Show c.97-60491_97-60490insAACAAAACAAAACAAAACAAAACAAAAC AAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAAC AAAACAAAACAAAACAAAACAA	PTPRJ	ENSG00000149177.15	transcript	ENST00000418331.7	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
PTPRT_chr20_42067756_43194906	43176033	C C	CGAGACCC others(93): Show CGAGACCCTGGGCTCTGACTGTGCCACTGCACTCCAGCCTGGCAACAGAG CGAGACCCTGGGCTCTGACTGTGCCACTGCACTCCAGCCTGGCAACAGAG A	intron_variant intron_variant	MODIFIER	HG01109.hp2 NA21309.hp2 HG01109.hp2 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0018 a0004c0020 a0001c0018 a0004c0020	a0001c0018t0003 a0004c0020t0016 a0001c0018t0003 a0004c0020t0016	a0001c0018t0003g0030 a0004c0020t0016g0029 a0001c0018t0003g0030 a0004c0020t0016g0029	2	62	0.0323	100	c.88+ others(117): Show c.88+13513_88+13612dupTCTCTGTTGCCAGGCTGGAGTGCAGTGG CACAGTCAGAGCCCAGGGTCTCGCTCTGTTGCCAGGCTGGAGTGCAGTGG CACAGTCAGAGCCCAGGGTCTC	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	1/30			chr20	TogoVar
PXN_chr12_120205447_120270730	120265741	G G	GCCGCCGC others(93): Show GCCGCCGCGCGCGCCCGCGCCCGCGCCCGCCGCGCGCGCCCGCGCCCGCG CCCGCCGCGCGCGCCCGCGCCCGCGCCCGCCGCGCGCGCCCGCGCCCGCG C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	324	0.0031	100	c.-11 others(109): Show c.-113_-112insGCGCGGGCGCGGGCGCGCGCGGCGGGCGCGGGCGCG GGCGCGCGCGGCGGGCGCGGGCGCGGGCGCGCGCGGCGGGCGCGGGCGCG GGCGCGCGCGGCGG	PXN	ENSG00000089159.17	transcript	ENST00000637617.2	protein_coding		12		chr12	TogoVar
RAB5A_chr3_19942097_19990175	19969952	T T	TGCCACCA others(93): Show TGCCACCATGCCCGGCTAATTTGTATTTTTAGTAGAGACGGGTTTTCACC ATGTTGGTCAGGCTGGCCTTGAATTCCAGACCTTGTGATCCACCCACCTC G	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA19006.hp2 NA18977.hp1 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0003g0085 a0001c0002t0001g0205 a0001c0001t0003g0085 a0001c0002t0001g0205	2	348	0.0058	100	c.164 others(117): Show c.164-5545_164-5446dupACCATGCCCGGCTAATTTGTATTTTTAG TAGAGACGGGTTTTCACCATGTTGGTCAGGCTGGCCTTGAATTCCAGACC TTGTGATCCACCCACCTCGGCC	RAB5A	ENSG00000144566.11	transcript	ENST00000273047.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
RAD17_chr5_69364818_69419801	69377588	T T	TATATATA others(93): Show TATATATATGCATATATATGTATACATATATATATGCATATATATGTATA CATATATATGCATATATATGTATACATATATATGCATATATATATGTATA C	intron_variant intron_variant	MODIFIER	HG00741.hp2 NA18979.hp2 HG00741.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0119 a0001c0001t0001g0097 a0001c0001t0001g0119	2	359	0.0056	100	c.351 others(117): Show c.351+2895_351+2896insGTATACATATATATATGCATATATATGT ATACATATATATGCATATATATGTATACATATATATGCATATATATATGT ATACATATATATGCATATATAT	RAD17	ENSG00000152942.19	transcript	ENST00000354868.10	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAD52_chr12_906736_954694	952995	A A	AGGGGGAA others(93): Show AGGGGGAAGGGAGGGGGTGGGGGGAGGGGGGAAGGGAGGGGGTGGGGGGA GGGGGAGGGGGTGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGGTGGGGGA G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0182 a0001c0001t0006g0182	1	400	0.0025	100	c.-34 others(111): Show c.-3413_-3412insCTCCCCCACCCCCTCCCCCCTCCCCCCTCCCCCC TCCCCACCCCCTCCCCCTCCCCCCACCCCCTCCCTTCCCCCCTCCCCCCA CCCCCTCCCTTCCCCC	RAD52	ENSG00000002016.18	transcript	ENST00000358495.8	protein_coding		3302		chr12	TogoVar
RAE1_chr20_57346255_57384202	57350904	G G	GCGGGGGG others(93): Show GCGGGGGGGGCGGGGGGGACGGGGGGCGGGGGGGGCGGGGGGGACGGGGG GCGGGGGGGGCGGGGGGGCGGGGGGGACGGGGGCGGGGGGGCGGGGGGGG C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0056 a0001c0001t0004g0056	1	342	0.0029	100	c.-52 others(109): Show c.-526_-525insCGGGGGGGGCGGGGGGGACGGGGGGCGGGGGGGGCG GGGGGGACGGGGGGCGGGGGGGGCGGGGGGGCGGGGGGGACGGGGGCGGG GGGGCGGGGGGGGC	RAE1	ENSG00000101146.13	transcript	ENST00000395841.7	protein_coding		350		chr20	TogoVar
RAI1_chr17_17676458_17816453	17816189	G G	GCCCCCCC others(93): Show GCCCCCCCAACCCCCCCCACCCCCGCCACCCCCACACCCCTGCCACCCCC CCAGCCCCACCCCCCCACCCCCAATCCCCCCACCCTCCCCACTCCCGCCA T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0239 a0002c0002t0002g0239	1	252	0.0040	100	c.62 others(111): Show c.6208_*6209insCCCCCCCAACCCCCCCCACCCCCGCCACCCCCAC ACCCCTGCCACCCCCCCAGCCCCACCCCCCCACCCCCAATCCCCCCACCC TCCCCACTCCCGCCAT	RAI1	ENSG00000108557.20	transcript	ENST00000353383.6	protein_coding		4737		chr17	TogoVar
RANBP10_chr16_67718070_67811560	67792065	A A	AATAAATA others(93): Show AATAAATAAATAAAGCAAGCTTCAGTCCATCATGACACTGGCTGCTACGT GTAAGCTGCTCCTCCAGCAAGCAACCATACCCGCCCCTGCCCCAGGAAGC C	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	152	0.0066	100	c.347 others(119): Show c.347+13263_347+13362dupGGCTTCCTGGGGCAGGGGCGGGTATG GTTGCTTGCTGGAGGAGCAGCTTACACGTAGCAGCCAGTGTCATGATGGA CTGAAGCTTGCTTTATTTATTTAT	RANBP10	ENSG00000141084.12	transcript	ENST00000317506.8	protein_coding	2/13			chr16	TogoVar
RAP1GAP_chr1_21591221_21674357	21660352	T T	TATATATA others(93): Show TATATATATATATATATATATATATATATATATAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA G	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0293 a0001c0002t0001g0293	1	372	0.0027	100	c.-14 others(119): Show c.-149+8901_-149+8902insCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATAT ATATATATATATATATATATATAT	RAP1GAP	ENSG00000076864.21	transcript	ENST00000374765.9	protein_coding	1/24			chr1	TogoVar
RAP1GAP_chr1_21591221_21674357	21660352	T T	TATATATA others(93): Show TATATATATATATATATATATATATATATATATATATATAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA G	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0290 a0001c0004t0001g0290	1	372	0.0027	100	c.-14 others(119): Show c.-149+8901_-149+8902insCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATATAT ATATATATATATATATATATATAT	RAP1GAP	ENSG00000076864.21	transcript	ENST00000374765.9	protein_coding	1/24			chr1	TogoVar
RAP1GAP_chr1_21591221_21674357	21660352	T T	TATATATA others(93): Show TATATATATATATATATATATATATATATATATATATATATAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA G	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0287 a0001c0002t0001g0287	1	372	0.0027	100	c.-14 others(119): Show c.-149+8901_-149+8902insCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATATATAT ATATATATATATATATATATATAT	RAP1GAP	ENSG00000076864.21	transcript	ENST00000374765.9	protein_coding	1/24			chr1	TogoVar
RAP1GAP_chr1_21591221_21674357	21660352	T T	TATATATA others(93): Show TATATATATATATATATATATATATATATATATATATATATATAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA G	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0294 a0002c0005t0001g0294	1	372	0.0027	100	c.-14 others(119): Show c.-149+8901_-149+8902insCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATATATATAT ATATATATATATATATATATATAT	RAP1GAP	ENSG00000076864.21	transcript	ENST00000374765.9	protein_coding	1/24			chr1	TogoVar
RAP1GAP_chr1_21591221_21674357	21660352	T T	TATATATA others(93): Show TATATATATATATATATATATATATATATATATATATATATATATAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA G	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02622.hp1 HG01978.hp2 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0001 a0001c0002t0001 a0001c0004t0001	a0001c0002t0001g0285 a0001c0004t0001g0284 a0001c0002t0001g0285 a0001c0004t0001g0284	2	372	0.0054	100	c.-14 others(119): Show c.-149+8901_-149+8902insCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATATATATATAT ATATATATATATATATATATATAT	RAP1GAP	ENSG00000076864.21	transcript	ENST00000374765.9	protein_coding	1/24			chr1	TogoVar
RAP1GAP_chr1_21591221_21674357	21660352	T T	TATATATA others(93): Show TATATATATATATATATATATATATATATATATATATATATATATAGAGA GTGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0250 a0001c0002t0001g0250	1	372	0.0027	100	c.-14 others(119): Show c.-149+8901_-149+8902insCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCTCACTCTCTATATATATATATATATATAT ATATATATATATATATATATATAT	RAP1GAP	ENSG00000076864.21	transcript	ENST00000374765.9	protein_coding	1/24			chr1	TogoVar
RAP1GAP_chr1_21591221_21674357	21660352	T T	TATATATA others(93): Show TATATATATATATATATATATATATATATATATATATATATATATATATA TATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0249 a0001c0002t0001g0249	1	372	0.0027	100	c.-14 others(119): Show c.-149+8901_-149+8902insCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCTATATATATATATATATATATATATATAT ATATATATATATATATATATATAT	RAP1GAP	ENSG00000076864.21	transcript	ENST00000374765.9	protein_coding	1/24			chr1	TogoVar
RBFOX1_chr16_6014024_7718340	6439972	T T	TTCTTTCT others(93): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTTTTCTTTCTTTCTTTCTTTCTTTTTTTGTTTTTGTTTTTTGAGCTG G	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	68	0.0147	100	c.-64 others(121): Show c.-64+122915_-64+122916insTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTCTTTCTTTCTTTCTTTCT TTTTTTGTTTTTGTTTTTTGAGCTGG	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15			chr16	TogoVar

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