Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PPEF2_chr4_75854867_75907452	75861614	G G	GTTTTTTT others(312): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCAGTTTTT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG02155.hp2 HG02647.hp1 others(6): Show HG01168.hp1 HG02155.hp2 HG02647.hp1 HG03471.hp1 NA18612.hp1 NA18612.hp2 NA18960.hp1 NA18986.hp1 NA19043.hp1	a0001 a0012 a0001 a0012	a0001c0001 a0001c0015 a0012c0021 a0001c0001 a0001c0015 a0012c0021	a0001c0001t0001 a0001c0015t0001 a0012c0021t0001 a0001c0001t0001 a0001c0015t0001 a0012c0021t0001	a0001c0001t0001g0023 a0001c0001t0001g0063 a0001c0001t0001g0076 others(6): Show a0001c0001t0001g0023 a0001c0001t0001g0063 a0001c0001t0001g0076 a0001c0001t0001g0083 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0151 a0001c0015t0001g0055 a0012c0021t0001g0057	9	270	0.0333	319	c.200 others(336): Show c.2009-695_2009-694insAAAAACTGGCCGGGCGCGGTGGCTCACG CCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCA GGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAA AATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTA CTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTG CAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	PPEF2	ENSG00000156194.19	transcript	ENST00000286719.12	protein_coding	16/16			chr4	TogoVar
PPFIA2_chr12_81252975_81764350	81642703	T T	TGTATCTA others(312): Show TGTATCTATTATATACATACATGTATGTATCTATTATATACATACATGTA TGTATCTATTATATACATACATGTATGTATCTATTATATACATACATGTA TGTATCTATTATATACATACATGTATGTATCTATTATATACATACATGTA TGTATCTATTATATACATACATGTATGTATCTATTATATACATACATGTA TGTATCTATTATATACATACATGTATGTATCTATTATATACATACATGTA TGTATCTATTATATACATACATGTATGTATCTATTATATACATACATGTA TGTATCTATTATATACATAC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	168	0.0060	319	c.303 others(338): Show c.303+34087_303+34088insGTATGTATATAATAGATACATACATG TATGTATATAATAGATACATACATGTATGTATATAATAGATACATACATG TATGTATATAATAGATACATACATGTATGTATATAATAGATACATACATG TATGTATATAATAGATACATACATGTATGTATATAATAGATACATACATG TATGTATATAATAGATACATACATGTATGTATATAATAGATACATACATG TATGTATATAATAGATACATACATGTATGTATATAATAGATACATACATG TATGTATATAATAGATACATACATGTATGTATATAATAGATAC	PPFIA2	ENSG00000139220.17	transcript	ENST00000549396.6	protein_coding	4/32			chr12	TogoVar
PPP3CC_chr8_22436078_22546125	22472245	T T	TAAAAGAC others(312): Show TAAAAGACAAGTACACCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATG AGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGG AGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGG GCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0322 a0001c0001t0004g0322	1	326	0.0031	319	c.50- others(334): Show c.50-2695_50-2694insCCAGCACTTTGGGAGGCCGAGGCGGGTGGA TCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCG TCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGT AGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGA AGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGG CCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAGACAAGTACA	PPP3CC	ENSG00000120910.15	transcript	ENST00000240139.10	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
PRKACA_chr19_14086688_14122762	14090084	C C	CCGGCGGC others(312): Show CCGGCGGCTGTGGCGGCGGCGGCAGCGGCGGCTCCCGGGCGGCGACGGCG GGCGGGGGGGCGCGGCGCGGGCCGGCCGGGGGCGCCACCGCCGGGGGAGC GGCTGGCGCGGGCGGCGGCGCGGCCAGGGGCGCGGCCCGCTGCGCGCGGG GGCCCGGCTGCGCGGGGCCAGGCGAGGGGGGCGCTGTGGCGGCGGCGGCG GCCGCGCGGGGCGCCCGGGCCGGGGCGGCGGCGGCGACGGGCGCGGGCGG TGGCGGCGGGGCGGGCGTGGGCGGCGGCGCGGCGGCGGCGGCGGCGGCGG GGGGCCCCGCGGGGGGCGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	358	0.0028	319	c.30 others(330): Show c.3027_*3028insCGCGCCCCCCGCGGGGCCCCCCGCCGCCGCCGCC GCCGCCGCGCCGCCGCCCACGCCCGCCCCGCCGCCACCGCCCGCGCCCGT CGCCGCCGCCGCCCCGGCCCGGGCGCCCCGCGCGGCCGCCGCCGCCGCCA CAGCGCCCCCCTCGCCTGGCCCCGCGCAGCCGGGCCCCCGCGCGCAGCGG GCCGCGCCCCTGGCCGCGCCGCCGCCCGCGCCAGCCGCTCCCCCGGCGGT GGCGCCCCCGGCCGGCCCGCGCCGCGCCCCCCCGCCCGCCGTCGCCGCCC GGGAGCCGCCGCTGCCGCCGCCGCCACAGCCGCCG	PRKACA	ENSG00000072062.16	transcript	ENST00000308677.9	protein_coding		1603		chr19	TogoVar
PRKACA_chr19_14086688_14122762	14090084	C C	CCGGCGGC others(312): Show CCGGCGGCTGTGGCGGCGGCGGCAGCGGCGGCTCCCGGGCGGCGACGGCG GGCGGGGGGGCGCGGCGCGGGCCGGCCGGGGGCGCCACCGCCGGGGGAGC GGCTGGCGCGGGCGGCGGCGCGGCCAGGGGCGCGGCCCGCTGCGCGCGGG GGCCCGGCTGCGCGGGGCCAGGCGAGGGGGGGCGCTGTGGCGGCGGCGGC GGCCGCGCGGGGCGCCCGGGCCGGGGCGGCGGCGGCGACGGGCGCGGGCG GTGGCGGCGGGGCGGGCGTGGGCGGCGGCGCGGCGGCGGCGGCGGCGGCG GGGGCCCCGCGGGGGGCGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	358	0.0028	319	c.30 others(330): Show c.3027_*3028insCGCGCCCCCCGCGGGGCCCCCGCCGCCGCCGCCG CCGCCGCGCCGCCGCCCACGCCCGCCCCGCCGCCACCGCCCGCGCCCGTC GCCGCCGCCGCCCCGGCCCGGGCGCCCCGCGCGGCCGCCGCCGCCGCCAC AGCGCCCCCCCTCGCCTGGCCCCGCGCAGCCGGGCCCCCGCGCGCAGCGG GCCGCGCCCCTGGCCGCGCCGCCGCCCGCGCCAGCCGCTCCCCCGGCGGT GGCGCCCCCGGCCGGCCCGCGCCGCGCCCCCCCGCCCGCCGTCGCCGCCC GGGAGCCGCCGCTGCCGCCGCCGCCACAGCCGCCG	PRKACA	ENSG00000072062.16	transcript	ENST00000308677.9	protein_coding		1603		chr19	TogoVar
PRKACA_chr19_14086688_14122762	14090084	C C	CCGGCGGC others(312): Show CCGGCGGCTGTGGCGGCGGCGGCAGCGGCGGCTCCCGGGCGGCGACGGCG GGCGGGGGGGCGCGGCGCGGGCCGGCCGGGGGCGCCACCGCCGGGGGAGC GGCTGGCGCGGGCGGCGGCGCGGCCAGGGGCGCGGCCCGCTGCGCGCGGG GGGCCCGGCTGCGCGGGGCCAGGCGAGGGGGGCGCTGTGGCGGCGGCGGC GGCCGCGCGGGGCGCCCGGGCCGGGGCGGCGGCGGCGACGGGCGCGGGCG GTGGCGGCGGGGCGGGCGTGGGCGGCGGCGCGGCGGCGGCGGCGGCGGCG GGGGCCCCGCGGGGGGCGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0260	1	358	0.0028	319	c.30 others(330): Show c.3027_*3028insCGCGCCCCCCGCGGGGCCCCCGCCGCCGCCGCCG CCGCCGCGCCGCCGCCCACGCCCGCCCCGCCGCCACCGCCCGCGCCCGTC GCCGCCGCCGCCCCGGCCCGGGCGCCCCGCGCGGCCGCCGCCGCCGCCAC AGCGCCCCCCTCGCCTGGCCCCGCGCAGCCGGGCCCCCCGCGCGCAGCGG GCCGCGCCCCTGGCCGCGCCGCCGCCCGCGCCAGCCGCTCCCCCGGCGGT GGCGCCCCCGGCCGGCCCGCGCCGCGCCCCCCCGCCCGCCGTCGCCGCCC GGGAGCCGCCGCTGCCGCCGCCGCCACAGCCGCCG	PRKACA	ENSG00000072062.16	transcript	ENST00000308677.9	protein_coding		1603		chr19	TogoVar
PRKACA_chr19_14086688_14122762	14090084	C C	CCGGCGGC others(312): Show CCGGCGGCTGTGGCGGCGGCGGCAGCGGCGGCTCCCGGGCGGCGACGGCG GGCGGGGGGGGCGCGGCGCGGGCCGGCCGGGGGCGCCACCGCCGGGGGAG CGGCTGGCGCGGGCGGCGGCGCGGCCAGGGGCGCGGCCCGCTGCGCGCGG GGGCCCGGCTGCGCGGGGCCAGGCGAGGGGGGCGCTGTGGCGGCGGCGGC GGCCGCGCGGGGCGCCCGGGCCGGGGCGGCGGCGGCGACGGGCGCGGGCG GTGGCGGCGGGGCGGGCGTGGGCGGCGGCGCGGCGGCGGCGGCGGCGGCG GGGGCCCCGCGGGGGGCGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00673.hp1 HG02027.hp1 others(8): Show HG00558.hp1 HG00673.hp1 HG02027.hp1 HG03669.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18946.hp2 NA18998.hp1 NA19000.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0011 a0001c0001t0014 others(1): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0014 a0001c0002t0001	a0001c0001t0001g0102 a0001c0001t0001g0107 a0001c0001t0001g0108 others(8): Show a0001c0001t0001g0102 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0158 a0001c0001t0001g0172 a0001c0001t0001g0194 a0001c0001t0001g0261 a0001c0001t0001g0288 a0001c0001t0011g0021 a0001c0001t0014g0081 a0001c0002t0001g0268	11	358	0.0307	319	c.30 others(330): Show c.3027_*3028insCGCGCCCCCCGCGGGGCCCCCGCCGCCGCCGCCG CCGCCGCGCCGCCGCCCACGCCCGCCCCGCCGCCACCGCCCGCGCCCGTC GCCGCCGCCGCCCCGGCCCGGGCGCCCCGCGCGGCCGCCGCCGCCGCCAC AGCGCCCCCCTCGCCTGGCCCCGCGCAGCCGGGCCCCCGCGCGCAGCGGG CCGCGCCCCTGGCCGCGCCGCCGCCCGCGCCAGCCGCTCCCCCGGCGGTG GCGCCCCCGGCCGGCCCGCGCCGCGCCCCCCCCGCCCGCCGTCGCCGCCC GGGAGCCGCCGCTGCCGCCGCCGCCACAGCCGCCG	PRKACA	ENSG00000072062.16	transcript	ENST00000308677.9	protein_coding		1603		chr19	TogoVar
PRKACA_chr19_14086688_14122762	14090084	C C	CCGGCGGC others(312): Show CCGGCGGCTGTGGCGGCGGCGGCAGCGGCGGCTCCCGGGCGGCGACGGCG GGCGGGGGGGGCGCGGCGCGGGCCGGCCGGGGGCGCCACCGCCGGGGGAG CGGCTGGCGCGGGCGGCGGCGCGGCCAGGGGCGCGGCCCGCTGCGCGCGG GGGCCCGGCTGCGCGGGGCCAGGCGAGGGGGTCGCTGTGGCGGCGGCGGC GGCCGCGCGGGGCGCCCGGGCCGGGGCGGCGGCGGCGACGGGCGCGGGCG GTGGCGGCGGGGCGGGCGTGGGCGGCGGCGCGGCGGCGGCGGCGGCGGCG GGGGCCCCGCGGGGGGCGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	358	0.0028	319	c.30 others(330): Show c.3027_*3028insCGCGCCCCCCGCGGGGCCCCCGCCGCCGCCGCCG CCGCCGCGCCGCCGCCCACGCCCGCCCCGCCGCCACCGCCCGCGCCCGTC GCCGCCGCCGCCCCGGCCCGGGCGCCCCGCGCGGCCGCCGCCGCCGCCAC AGCGACCCCCTCGCCTGGCCCCGCGCAGCCGGGCCCCCGCGCGCAGCGGG CCGCGCCCCTGGCCGCGCCGCCGCCCGCGCCAGCCGCTCCCCCGGCGGTG GCGCCCCCGGCCGGCCCGCGCCGCGCCCCCCCCGCCCGCCGTCGCCGCCC GGGAGCCGCCGCTGCCGCCGCCGCCACAGCCGCCG	PRKACA	ENSG00000072062.16	transcript	ENST00000308677.9	protein_coding		1603		chr19	TogoVar
PRKN_chr6_161342417_162732766	161789914	A A	ACTAAATT others(312): Show ACTAAATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0003 a0003c0006t0003	a0003c0006t0003g0004 a0003c0006t0003g0004	1	32	0.0313	319	c.735 others(336): Show c.735-4007_735-4006insGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAATTTAG	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	6/11			chr6	TogoVar
PRR32_chrX_126814729_126826786	126826624	T T	TAAAAAAC others(312): Show TAAAAAACATATTAGTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGGC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	334	0.0030	319	c.50 others(330): Show c.5089_*5090insAAAAAACATATTAGTAGGCCGGGCGCGGTGGCTC ACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGG TCAGGAGATCGAGGCCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACT AAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAG CTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGC TTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGC GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA	PRR32	ENSG00000183631.5	transcript	ENST00000371125.4	protein_coding		4839		chrX	TogoVar
PRUNE2_chr9_76606376_76911114	76791621	C C	CACCAGTT others(312): Show CACCAGTTATCATTGGTACAATAATACTGCACCAGTTATCATTGGTACAA TAATACTGCACCAGTTATCATTGGTACAATAATACTGCACCAGTTATCAT TGGTACAATAATACTGCACCAGTTATCATTGGTACAATAATACTGCACCA GTTATCATTGGTACAATAATACTGCACCAGTTATCATTGGTACAATAATA CTGCACCAGTTATCATTGGTACAATAATACTGCACCAGTTATCATTGGTA CAATAATACTGCACCAGTTATCATTGGTACAATAATACTGCACCAGTTAT CATTGGTACAATAATACTGT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0018 a0018	a0018c0022 a0018c0022	a0018c0022t0012 a0018c0022t0012	a0018c0022t0012g0004 a0018c0022t0012g0004	1	240	0.0042	319	c.756 others(338): Show c.756+32010_756+32011insACAGTATTATTGTACCAATGATAACT GGTGCAGTATTATTGTACCAATGATAACTGGTGCAGTATTATTGTACCAA TGATAACTGGTGCAGTATTATTGTACCAATGATAACTGGTGCAGTATTAT TGTACCAATGATAACTGGTGCAGTATTATTGTACCAATGATAACTGGTGC AGTATTATTGTACCAATGATAACTGGTGCAGTATTATTGTACCAATGATA ACTGGTGCAGTATTATTGTACCAATGATAACTGGTGCAGTATTATTGTAC CAATGATAACTGGTGCAGTATTATTGTACCAATGATAACTGGT	PRUNE2	ENSG00000106772.19	transcript	ENST00000376718.8	protein_coding	6/18			chr9	TogoVar
PSTK_chr10_122975401_122995390	122976474	T T	TAAAGAAG others(312): Show TAAAGAAGGAGCAAAGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCAGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCGCGCCACTACACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(134): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01167.hp2 HG01168.hp2 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01515.hp1 HG01516.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02109.hp2 HG02129.hp1 HG02145.hp2 HG02165.hp1 HG02258.hp2 HG02273.hp1 HG02293.hp1 HG02523.hp1 HG02559.hp2 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02970.hp1 HG02970.hp2 HG03098.hp1 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03492.hp1 HG03688.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp2 NA18941.hp1 NA18942.hp2 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18956.hp2 NA18957.hp1 NA18959.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18967.hp2 NA18969.hp2 NA18970.hp2 NA18977.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18985.hp2 NA18990.hp1 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA19004.hp1 NA19006.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19055.hp2 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19064.hp1 NA19075.hp1 NA19077.hp2 NA19078.hp1 NA19085.hp2 NA19088.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp2 NA21309.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0002c0002t0002 a0003c0003t0001 a0002c0002t0001 a0002c0002t0002 a0003c0003t0001	a0002c0002t0001g0002 a0002c0002t0001g0013 a0002c0002t0001g0035 others(52): Show a0002c0002t0001g0002 a0002c0002t0001g0013 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0049 a0002c0002t0001g0053 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0108 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0118 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0001g0130 a0002c0002t0001g0134 a0002c0002t0001g0140 a0002c0002t0001g0142 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0002g0103 a0002c0002t0002g0117 a0003c0003t0001g0003 a0003c0003t0001g0006 a0003c0003t0001g0007 a0003c0003t0001g0010 a0003c0003t0001g0016 a0003c0003t0001g0030 a0003c0003t0001g0032 a0003c0003t0001g0040 a0003c0003t0001g0048 a0003c0003t0001g0056 a0003c0003t0001g0104 a0003c0003t0001g0106 a0003c0003t0001g0107 a0003c0003t0001g0109 a0003c0003t0001g0119 a0003c0003t0001g0126 a0003c0003t0001g0127 a0003c0003t0001g0131 a0003c0003t0001g0143 a0003c0003t0001g0144	137	416	0.3293	319	c.-40 others(330): Show c.-4006_-4005insAAAGAAGGAGCAAAGGGGCCGGGCGCGGTGGCTC ACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGG TCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACT AAAAATACAAAAAATTAGCCAGGCGTGGTAGCGGGCGCCTGTAGTCCCAG CTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGC TTGCAGTGAGCCGAGATCGCGCCACTACACTCCAGCCTGGGCGACAGAGC GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA	PSTK	ENSG00000179988.15	transcript	ENST00000406217.8	protein_coding		3926		chr10	TogoVar
PSTK_chr10_122975401_122995390	122976474	T T	TAAAGAAG others(312): Show TAAAGAAGGAGCAAAGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCAGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCGGTGAGCCGAG ATCGCGCCACTACACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03492.hp2 NA18965.hp1 NA19002.hp2 others(2): Show HG03492.hp2 NA18965.hp1 NA19002.hp2 NA19066.hp1 NA19083.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0001 a0002c0002t0001 a0003c0003t0001	a0002c0002t0001g0105 a0003c0003t0001g0006 a0003c0003t0001g0010 others(2): Show a0002c0002t0001g0105 a0003c0003t0001g0006 a0003c0003t0001g0010 a0003c0003t0001g0016 a0003c0003t0001g0135	5	416	0.0120	319	c.-40 others(330): Show c.-4006_-4005insAAAGAAGGAGCAAAGGGGCCGGGCGCGGTGGCTC ACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGG TCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACT AAAAATACAAAAAATTAGCCAGGCGTGGTAGCGGGCGCCTGTAGTCCCAG CTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGC TTGCGGTGAGCCGAGATCGCGCCACTACACTCCAGCCTGGGCGACAGAGC GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA	PSTK	ENSG00000179988.15	transcript	ENST00000406217.8	protein_coding		3926		chr10	TogoVar
PTPN3_chr9_109370700_109503307	109499103	C C	CAAAAATT others(312): Show CAAAAATTCTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCC GGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	290	0.0035	319	c.-90 others(328): Show c.-903_-902insTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCCAGAATTTTT	PTPN3	ENSG00000070159.14	transcript	ENST00000374541.4	protein_coding		797		chr9	TogoVar
PTPRZ1_chr7_121868161_122067036	121982684	C C	CAGAAATA others(312): Show CAGAAATACAATTGATTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	1	312	0.0032	319	c.620 others(334): Show c.620-965_620-964insGGGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAGAAATACAATTGATT	PTPRZ1	ENSG00000106278.12	transcript	ENST00000393386.7	protein_coding	6/29		INFO_REALIGN_3_PRIME	chr7	TogoVar
PTX4_chr16_1480886_1493944	1484887	A A	AAAAGAAA others(312): Show AAAAGAAAAAAGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATTGAGACCATC CTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTC CGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0028 a0028	a0028c0033 a0028c0033	a0028c0033t0001 a0028c0033t0001	a0028c0033t0001g0050 a0028c0033t0001g0050	1	442	0.0023	319	c.10 others(330): Show c.1051_*1052insCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGGAATCTCGGCTCAC TGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCAATCT CCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCCCTTTTTTCTTT	PTX4	ENSG00000251692.8	transcript	ENST00000447419.7	protein_coding		998		chr16	TogoVar
PTX4_chr16_1480886_1493944	1484887	A A	AAAAGAAA others(312): Show AAAAGAAAAAAGGGGCCGGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCAT CCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATT CCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0006 a0005c0005t0001g0006	1	442	0.0023	319	c.10 others(330): Show c.1051_*1052insCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGGAATCTCGGCTCACT GCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCCGGCCCCTTTTTTCTTT	PTX4	ENSG00000251692.8	transcript	ENST00000447419.7	protein_coding		998		chr16	TogoVar
RABEP1_chr17_5277284_5391340	5309351	T T	TAAAACAG others(312): Show TAAAACAGGAAATTGCGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACC ATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGA GGCAGGAGAATGGCGTTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAG ATTGCACCACTGCAGTCCGCAGTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0010 a0001c0004t0010	a0001c0004t0010g0239 a0001c0004t0010g0239	1	352	0.0028	319	c.163 others(334): Show c.163+544_163+545insGGCCGGGCGCGGTGGCTCATGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGA GACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGG CTGAGGCAGGAGAATGGCGTTGAACCCGGGAAGCGGAGCTTGCAGTGAGC CGAGATTGCACCACTGCAGTCCGCAGTCCAGCCTGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAACAGGAAATTGC	RABEP1	ENSG00000029725.17	transcript	ENST00000537505.6	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
RABEP1_chr17_5277284_5391340	5309351	T T	TAAAACAG others(312): Show TAAAACAGGAAATTGCGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACC ATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGA GGCAGGAGAATGGCGTTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCAGTCCGCAGTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0010 a0001c0004t0010	a0001c0004t0010g0238 a0001c0004t0010g0238	1	352	0.0028	319	c.163 others(334): Show c.163+544_163+545insGGCCGGGCGCGGTGGCTCATGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGA GACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGG CTGAGGCAGGAGAATGGCGTTGAACCCGGGAAGCGGAGCTTGCAGTGAGC CGAGATTGCGCCACTGCAGTCCGCAGTCCAGCCTGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAACAGGAAATTGC	RABEP1	ENSG00000029725.17	transcript	ENST00000537505.6	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
RABGAP1L_chr1_174154520_175000308	174515500	G G	GGAGATCT others(312): Show GGAGATCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTTGCCCAGGCCGGACTGCGGACTGCAATGGCGCAATCTCGGCTCACTGC AAGCTCCGCTTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0130 a0001c0001t0008g0130	1	272	0.0037	319	c.171 others(342): Show c.1710+121363_1710+121364insTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTTGCCCAGGCCGGACTGCGGACTGCAATGG CGCAATCTCGGCTCACTGCAAGCTCCGCTTCCTGGGTTCACGCCATTCTC CTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCC CGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCC AGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCA AAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAGATCTT	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	13/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RAD21L1_chr20_1221044_1260876	1258819	G G	GTTTCCTT others(312): Show GTTTCCTTCTAGGTAACTGGTTTGGGATCTTCCCTCTTTTCTAATACAAA CACATAAAGCTCTGTTTCCTTCTAGGTAACTGATTTGGGATCTTCCCTCT TTTCTAATACAAACACATAAAGCTCTGTTTCCTTCTAGGTAACTGATTTG GGATCTTCCCTCTTTTCTAATATAAACACATAAAGCTCTGTTTCCTTCTA GGTAACTGGTTTGAGATCTTCCCTCTTTTCTAATATAAACACATAAAGCT CTGTTTCCTTCTAGGTAACTGATTTGAGATCTTCCCTCTTTTCTAATATA AACACATAAAGCTCTGTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG01496.hp1 HG03516.hp2 others(4): Show HG00544.hp1 HG01496.hp1 HG03516.hp2 HG03831.hp2 HG04199.hp1 HG06807.hp1 NA20129.hp1	a0002 a0007 a0002 a0007	a0002c0002 a0002c0003 a0007c0010 a0002c0002 a0002c0003 a0007c0010	a0002c0002t0002 a0002c0002t0003 a0002c0003t0002 others(1): Show a0002c0002t0002 a0002c0002t0003 a0002c0003t0002 a0007c0010t0002	a0002c0002t0002g0079 a0002c0002t0002g0081 a0002c0002t0003g0037 others(4): Show a0002c0002t0002g0079 a0002c0002t0002g0081 a0002c0002t0003g0037 a0002c0002t0003g0060 a0002c0003t0002g0002 a0007c0010t0002g0076 a0007c0010t0002g0077	7	364	0.0192	319	c.43 others(330): Show c.4362_*4363insTTTCCTTCTAGGTAACTGGTTTGGGATCTTCCCT CTTTTCTAATACAAACACATAAAGCTCTGTTTCCTTCTAGGTAACTGATT TGGGATCTTCCCTCTTTTCTAATACAAACACATAAAGCTCTGTTTCCTTC TAGGTAACTGATTTGGGATCTTCCCTCTTTTCTAATATAAACACATAAAG CTCTGTTTCCTTCTAGGTAACTGGTTTGAGATCTTCCCTCTTTTCTAATA TAAACACATAAAGCTCTGTTTCCTTCTAGGTAACTGATTTGAGATCTTCC CTCTTTTCTAATATAAACACATAAAGCTCTGTTTC	RAD21L1	ENSG00000244588.6	transcript	ENST00000683101.1	protein_coding		2944		chr20	TogoVar
RALA_chr7_39618572_39713120	39639989	G G	GACGTTAG others(312): Show GACGTTAGTGTTTTTTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCTGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02723.hp2 HG03041.hp1 others(4): Show HG02451.hp2 HG02723.hp2 HG03041.hp1 HG03130.hp1 HG03139.hp1 HG03540.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0013 a0001c0001t0004g0266 a0001c0001t0004g0268 others(3): Show a0001c0001t0004g0013 a0001c0001t0004g0266 a0001c0001t0004g0268 a0001c0001t0004g0269 a0001c0001t0004g0270 a0001c0001t0004g0271	7	366	0.0191	319	c.-38 others(338): Show c.-38+16181_-38+16182insTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCTGGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCACGTTAGTGTTTTTTCT	RALA	ENSG00000006451.8	transcript	ENST00000005257.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr7	TogoVar
RAPGEFL1_chr17_40172470_40200650	40186589	A A	AAAAAAAA others(312): Show AAAAAAAAAAAAAAAAAAAAAAAAAAGAGGTGGGCTGGGTGTGGTGGCTC ATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGG TCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACT AAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGCAGTCCCAG CTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGT TTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCG ACAGAGCGAGACTCCGTCTC	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0205 a0001c0001t0031g0205	1	316	0.0032	319	c.833 others(336): Show c.833+1931_833+1932insAAAAAGAGGTGGGCTGGGTGTGGTGGCT CATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAG GTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTAC TAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGCAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAG TTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGC GACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA	RAPGEFL1	ENSG00000108352.13	transcript	ENST00000620260.6	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
RAPGEFL1_chr17_40172470_40200650	40186590	A A	AAAAAAAA others(312): Show AAAAAAAAAAAAAAAAAAAAAAAAAAGAGGTGGGCTGGGTGTGGTGGCTC ATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGG TCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACT AAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGCAGTCCCAG CTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGT TTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCG ACAGAGCGAGACTCCGTCTC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0204 a0001c0001t0031g0204	1	316	0.0032	319	c.833 others(336): Show c.833+1931_833+1932insAAAAAAGAGGTGGGCTGGGTGTGGTGGC TCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGA GGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGCAGTCCC AGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGA GTTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGG CGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA	RAPGEFL1	ENSG00000108352.13	transcript	ENST00000620260.6	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
RARS2_chr6_87508938_87594987	87588370	T T	TTATTTTT others(312): Show TTATTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCA GGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGGGT AGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0339 a0001c0002t0010g0339	1	382	0.0026	319	c.36+ others(334): Show c.36+1551_36+1552insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACCCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGC CGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAATA	RARS2	ENSG00000146282.19	transcript	ENST00000369536.10	protein_coding	1/19			chr6	TogoVar
RBFOX1_chr16_6014024_7718340	7491380	T T	TAAGATTC others(312): Show TAAGATTCAGTCTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAC GGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCAGTG GCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGAAGGCGGAGCTTGCAGTGAGCGGAGATCGCGCCACTGCAC TCCCGCCTGGGCGACAGAACGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0058 a0001c0001t0005g0058	1	68	0.0147	319	c.28- others(336): Show c.28-26754_28-26753insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG GCGCAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCGGAGATCGCGC CACTGCACTCCCGCCTGGGCGACAGAACGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATTCAGTCTG	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7491380	T T	TAAGATTC others(312): Show TAAGATTCAGTCTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAC GGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCAGTG GCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGAAGGCGGAGCTTGCAGTGAGCGGAGATCGCGCCACTGCAC TCCCGCCTGGGCGACAGAACGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00642.hp1 HG02004.hp1 others(1): Show HG00639.hp1 HG00642.hp1 HG02004.hp1 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 a0001c0001 a0001c0002 a0001c0009	a0001c0001t0001 a0001c0002t0002 a0001c0009t0001 a0001c0001t0001 a0001c0002t0002 a0001c0009t0001	a0001c0001t0001g0042 a0001c0002t0002g0070 a0001c0002t0002g0191 others(1): Show a0001c0001t0001g0042 a0001c0002t0002g0070 a0001c0002t0002g0191 a0001c0009t0001g0129	4	234	0.0171	319	c.88- others(336): Show c.88-26754_88-26753insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG GCGCAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCGGAGATCGCGC CACTGCACTCCCGCCTGGGCGACAGAACGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATTCAGTCTG	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBM17_chr10_6084034_6122447	6107855	T T	TTTGTTTT others(312): Show TTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0255 a0001c0001t0002g0255	1	434	0.0023	319	c.506 others(334): Show c.506-823_506-822insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGCGCCCGGCCTTGTTTTT	RBM17	ENSG00000134453.16	transcript	ENST00000379888.9	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(312): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGGGAGGAGGGGAGGGG GGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGGGGGAGAGGGGGGAG GGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGGAGGAGGGGAGGGGG AGGAGGGAAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGG AAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGG GAGGAGGGAGGAGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0117 a0001c0001t0004g0117	1	318	0.0031	319	c.36 others(330): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGG GGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGG GGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAG GAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGGAGGGGAGGAGGG GAGGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGG GAGGAGGGGACGGGGGAGGAGGGAGGAGGGGAGGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAGA others(312): Show AGGGGAGAAGAGGGAGGAGGGGAGGGGAGGAGGAGGGGAGGGGGAGGGGG AGGGGGAGGAGGGAGGAGGGGAGGGGGAGGAGGGGGGGGAGGAGGGGAGG GGGAGGAGGGAGGGGGGAGGAGGGGAGGGGGAGAGGGGGGAGGGGGAGAG GGGAGGAGGGGAGGGGGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGA AGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAG GGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGAGGAGGG AGGAGGGGAGGGGGGAGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0068 a0001c0001t0002g0068	1	318	0.0031	319	c.36 others(330): Show c.3638_*3639insGGGGAGAAGAGGGAGGAGGGGAGGGGAGGAGGAG GGGAGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGAGGAGGGG GGGGAGGAGGGGAGGGGGAGGAGGGAGGGGGGAGGAGGGGAGGGGGAGAG GGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGGAGGAGGG GAGGGGGAGGAGGGAAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGA GGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGG GACGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
RELB_chr19_44996464_45043192	45010313	T T	TCAAAAAG others(312): Show TCAAAAAGAAAACCAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02451.hp2 HG02723.hp1 others(3): Show HG02109.hp2 HG02451.hp2 HG02723.hp1 HG02735.hp1 HG03098.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0127 a0001c0001t0001g0358 a0001c0002t0001g0100 others(3): Show a0001c0001t0001g0127 a0001c0001t0001g0358 a0001c0002t0001g0100 a0001c0002t0001g0128 a0001c0002t0001g0130 a0001c0002t0001g0137	6	382	0.0157	319	c.163 others(334): Show c.163+507_163+508insAGGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAACAAAAAGAAAACCAAT	RELB	ENSG00000104856.15	transcript	ENST00000221452.13	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
RER1_chr1_2386841_2410436	2401346	C C	CTCCTCCC others(312): Show CTCCTCCCTCCTTCCTCCCTCCTCCTCCCTTCTTCCTCCCTCCTCCCTCC CTCCTCCCTCCCTCCTCCTCCCTCCTTCCTCCCTCCTTCCTCCTCCCTCC TTCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTCCCTTCTT CCTCCCTCCTCCTCCCTGCTTCCTCCTCCTCCCTCCTCCCCCTCCTCCCC TCCTCCCTCCCCCCTCCTCCCTCCCTCCTCCCCCCTCCTCCCTCCTTCCT CCCTCCTCCTCCCTCCCTCCTCCTTCCTCCCTCCTCCTTCCTCCCTCCTT CCTCCCTCCTCCTCCCTCCT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03453.hp2 NA19240.hp2 HG02965.hp1 HG03453.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0027 a0001c0001t0014 a0001c0001t0027	a0001c0001t0014g0155 a0001c0001t0014g0157 a0001c0001t0027g0156 a0001c0001t0014g0155 a0001c0001t0014g0157 a0001c0001t0027g0156	3	354	0.0085	319	c.365 others(334): Show c.365+415_365+416insCCCTCCTTCCTCCCTCCTCCTCCCTTCTTC CTCCCTCCTCCCTCCCTCCTCCCTCCCTCCTCCTCCCTCCTTCCTCCCTC CTTCCTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTCCT CCCTCCTCCCTTCTTCCTCCCTCCTCCTCCCTGCTTCCTCCTCCTCCCTC CTCCCCCTCCTCCCCTCCTCCCTCCCCCCTCCTCCCTCCCTCCTCCCCCC TCCTCCCTCCTTCCTCCCTCCTCCTCCCTCCCTCCTCCTTCCTCCCTCCT CCTTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCCTTCCT	RER1	ENSG00000157916.20	transcript	ENST00000605895.6	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RERE_chr1_8347404_8822640	8386567	A A	AGAACTCT others(312): Show AGAACTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0072 a0003c0008t0001g0072	1	204	0.0049	319	c.128 others(340): Show c.1285-20594_1285-20593insGGGCCGGGCGCGGTGGCTCACGCC TGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGG AGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAA TACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACT TGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAGTTC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	12/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8502129	T T	TGCCCGGC others(312): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCC CGCACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCC GCCTGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCGGGCCAGCCGCCCCGTCCG GGAGGGAGGCGCGGGGGGGGGGTCGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGGGGTCAGCCCCCC	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0141 a0001c0001t0003g0141	1	204	0.0049	319	c.880 others(336): Show c.880-4601_880-4600insGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGACCCCCCCCCCGCGCCTCCCTCCCGGACGGG GCGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG CAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCT GATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCTG ACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	8/22			chr1	TogoVar
RFESD_chr5_95641777_95663082	95658505	T T	TCTCTTTT others(312): Show TCTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCATGCTCCGCCTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGC GCCCGCCACTACGCCCAGCTAATTTTTTTTTTTTTTTTTTTTGTATTTTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	410	0.0024	319	c.21 others(330): Show c.2196_*2197insCTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCA TGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCAGCTAATTTTTTTTTTTTT TTTTTTTGTATTTTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGA TGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGT GCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	RFESD	ENSG00000175449.15	transcript	ENST00000380005.9	protein_coding		424		chr5	TogoVar
RGS12_chr4_3288021_3444913	3309643	T T	TTGAGGAG others(312): Show TTGAGGAGGAGCTGGGACCCGGGAAATGGCAGGTGTCCTCTGAGGGGAAC CGTGTTGAGGAGGAGCTGGGACCTGGGAATGGCAGGTGTCCTCTGAGGAG AGCTGAGCAGGAGAGGAGCTGGGACTCGGGAATGGCAGGTGTCCGCTGAG GGGAACCGTGCTGGGGAGGAGCTGGGACCCTGGAATGGCAGGTGTCCGCT GAGGGGAACCGTGCAGGGGAGGAGCTGGGACCTGGGAATGGCAGGTGTCC TCTGAGGAGAGCTGAGCAGGAGAGGAGCTGGGACTCGGGAATGGCAGGTG TCCGCTGAGGGGAACCGTGC	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02258.hp1 NA18522.hp1 HG01975.hp1 HG02258.hp1 NA18522.hp1	a0003 a0003	a0003c0016 a0003c0016	a0003c0016t0001 a0003c0016t0001	a0003c0016t0001g0208 a0003c0016t0001g0209 a0003c0016t0001g0210 a0003c0016t0001g0208 a0003c0016t0001g0209 a0003c0016t0001g0210	3	312	0.0096	319	c.-10 others(338): Show c.-101-6427_-101-6426insTGAGGAGGAGCTGGGACCCGGGAAAT GGCAGGTGTCCTCTGAGGGGAACCGTGTTGAGGAGGAGCTGGGACCTGGG AATGGCAGGTGTCCTCTGAGGAGAGCTGAGCAGGAGAGGAGCTGGGACTC GGGAATGGCAGGTGTCCGCTGAGGGGAACCGTGCTGGGGAGGAGCTGGGA CCCTGGAATGGCAGGTGTCCGCTGAGGGGAACCGTGCAGGGGAGGAGCTG GGACCTGGGAATGGCAGGTGTCCTCTGAGGAGAGCTGAGCAGGAGAGGAG CTGGGACTCGGGAATGGCAGGTGTCCGCTGAGGGGAACCGTGC	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	1/17			chr4	TogoVar
RGS7_chr1_240770514_241362205	240826808	T T	TTCCTCAG others(312): Show TTCCTCAGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGAGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0109 a0001c0001t0002g0109	1	112	0.0089	319	c.684 others(334): Show c.684+289_684+290insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCTCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCTGAGGA	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	10/18			chr1	TogoVar
RIN2_chr20_19753258_20007456	19924336	T T	TTTCCATA others(312): Show TTTCCATACCCCTACCTTCATTCCCCACCTTTTCATACCCCCACCTTCAT ACCCTACCTCTTTATACCCCCACCTTCATACCCCCACCTTCATACCCCCA CCTTCATACCCCCACCTTCATACCCCACCTTCATACACCCACCTTCATAC CCCACCTTCATACCCTCACCTTCATACCCTCACCTCCATACCTCACCTTC CTACCCCCACCTTCATACCCCACCTTCATACCCTCACCTTCATACCCTCA CCTCCATACCCTCACCTTCATACCCTCACCTTCATACCCCACCTTCATAC CCTCACCTTCATACCCCCAC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00673.hp1 HG00741.hp1 others(25): Show HG00621.hp1 HG00673.hp1 HG00741.hp1 HG01243.hp2 HG01884.hp2 HG01978.hp1 HG02145.hp1 HG02698.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03098.hp1 HG03239.hp2 HG03540.hp2 HG03688.hp1 HG03710.hp2 NA18906.hp2 NA18942.hp2 NA18950.hp1 NA18955.hp2 NA18986.hp1 NA18992.hp2 NA19043.hp1 NA19056.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0032 a0001c0001t0037 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0009 a0001c0002t0010 a0001c0002t0014 a0001c0005t0001 a0002c0003t0007 a0002c0003t0015 a0003c0006t0031 a0003c0006t0044	a0001c0001t0001g0047 a0001c0001t0002g0238 a0001c0001t0003g0274 others(25): Show a0001c0001t0001g0047 a0001c0001t0002g0238 a0001c0001t0003g0274 a0001c0001t0005g0137 a0001c0001t0007g0022 a0001c0001t0007g0174 a0001c0001t0008g0220 a0001c0001t0009g0004 a0001c0001t0032g0237 a0001c0001t0037g0092 a0001c0002t0001g0209 a0001c0002t0002g0219 a0001c0002t0002g0222 a0001c0002t0002g0236 a0001c0002t0002g0248 a0001c0002t0003g0221 a0001c0002t0003g0271 a0001c0002t0005g0027 a0001c0002t0005g0250 a0001c0002t0005g0256 a0001c0002t0009g0068 a0001c0002t0010g0102 a0001c0002t0014g0117 a0001c0005t0001g0227 a0002c0003t0007g0161 a0002c0003t0015g0040 a0003c0006t0031g0005 a0003c0006t0044g0014	28	276	0.1015	319	c.58- others(336): Show c.58-10763_58-10762insTTCCATACCCCTACCTTCATTCCCCACC TTTTCATACCCCCACCTTCATACCCTACCTCTTTATACCCCCACCTTCAT ACCCCCACCTTCATACCCCCACCTTCATACCCCCACCTTCATACCCCACC TTCATACACCCACCTTCATACCCCACCTTCATACCCTCACCTTCATACCC TCACCTCCATACCTCACCTTCCTACCCCCACCTTCATACCCCACCTTCAT ACCCTCACCTTCATACCCTCACCTCCATACCCTCACCTTCATACCCTCAC CTTCATACCCCACCTTCATACCCTCACCTTCATACCCCCAC	RIN2	ENSG00000132669.14	transcript	ENST00000255006.12	protein_coding	3/12			chr20	TogoVar
RIN3_chr14_92508781_92693994	92547135	G G	GTAAATTA others(312): Show GTAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATT ATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTT ATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAA TTGTCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTAT AAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTT ATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATC TTTATTTTATTATTATAAAA	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0084 a0003c0003t0001g0084	1	334	0.0030	319	c.45- others(334): Show c.45-8552_45-8551insGTCTTTATTTTATTATTATAAAATAAATTG TCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAA ATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATT ATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTT ATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAA TTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTAT AAAATAAATTATCTTTATTTTATTATTATAAAATAAATT	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
RIN3_chr14_92508781_92693994	92547135	G G	GTAAATTA others(312): Show GTAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATT ATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTT ATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAA TTGTCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTAT AAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTT ATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTATC TTTATTTTATTATTATAAAA	intron_variant intron_variant	MODIFIER	HG01255.hp1 NA18959.hp2 NA20300.hp2 HG01255.hp1 NA18959.hp2 NA20300.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0002 a0001c0001t0001 a0004c0004t0002	a0001c0001t0001g0053 a0001c0001t0001g0323 a0004c0004t0002g0042 a0001c0001t0001g0053 a0001c0001t0001g0323 a0004c0004t0002g0042	3	334	0.0090	319	c.45- others(334): Show c.45-8552_45-8551insGTCTTTATTTTATTATTATAAAATAAATTG TCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAA ATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATT ATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTT ATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAA TTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTAT AAAATAAATTATCTTTATTTTATTATTATAAAATAAATT	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
RIN3_chr14_92508781_92693994	92547135	G G	GTAAATTA others(312): Show GTAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATT ATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTT ATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAA TTGTCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTAT AAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTT ATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTC TTTATTTTATTATTATAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02040.hp1 HG02055.hp2 others(1): Show HG00609.hp2 HG02040.hp1 HG02055.hp2 NA18957.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0026 a0005c0006 a0001c0001 a0002c0026 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0002c0026t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0026t0001 a0005c0006t0001	a0001c0001t0001g0125 a0001c0001t0002g0174 a0002c0026t0001g0145 others(1): Show a0001c0001t0001g0125 a0001c0001t0002g0174 a0002c0026t0001g0145 a0005c0006t0001g0151	4	334	0.0120	319	c.45- others(334): Show c.45-8552_45-8551insGTCTTTATTTTATTATTATAAAATAAATTG TCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAA ATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATT ATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTT ATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAA TTGTCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTAT AAAATAAATTATCTTTATTTTATTATTATAAAATAAATT	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
RIOK2_chr5_97155867_97188247	97180004	T T	TAATATAT others(312): Show TAATATATATATAAAATATATATATATAATATATATATATAAAATATATA TATATAATATATATATATAAAATATATATATATAATATATATATATAAAA TATATATATAAAATATATATATATAATATATATATATAAAATATATATAT AAAATATATATATATAATATATATATAAAATATATATATAAAATATATAT ATATAATATATATATAAAATATATATATATAATATATATATATATAAAAT ATATATAAAATATATATATAATATATATATAAAATATATATATAATATAT ATATAATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0006 a0004c0005t0006	a0004c0005t0006g0172 a0004c0005t0006g0172	1	410	0.0024	319	c.67- others(332): Show c.67-812_67-811insTATATATATATATATTATATATATATTATATA TATATTTTATATATATATTATATATATATTTTATATATATTTTATATATA TATATATTATATATATATATTTTATATATATATTATATATATATATTTTA TATATATATTTTATATATATATTATATATATATATTTTATATATATATTT TATATATATATATTATATATATATATTTTATATATATATTTTATATATAT ATATTATATATATATATTTTATATATATATATTATATATATATATTTTAT ATATATATATTATATATATATATTTTATATATATATT	RIOK2	ENSG00000058729.11	transcript	ENST00000283109.8	protein_coding	1/9			chr5	TogoVar
RIPK4_chr21_41734373_41772052	41736056	C C	CTTCTTCT others(312): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	448	0.0022	319	c.47 others(330): Show c.4781_*4782insTAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	RIPK4	ENSG00000183421.12	transcript	ENST00000332512.8	protein_coding		3316		chr21	TogoVar
RIPOR3_chr20_50581108_50696542	50666223	T T	TTTTCTTT others(312): Show TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0050 a0002c0002t0002g0050	1	280	0.0036	319	c.3+2 others(334): Show c.3+24902_3+24903insGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	1/21			chr20	TogoVar
RNF125_chr18_32013825_32078219	32033309	C C	CAAAACTA others(312): Show CAAAACTAGAAGGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0265 a0001c0001t0024g0265	1	360	0.0028	319	c.165 others(336): Show c.165-3793_165-3792insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACAGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAACTAGAAGGGA	RNF125	ENSG00000101695.9	transcript	ENST00000217740.4	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
RNF125_chr18_32013825_32078219	32033309	C C	CAAAACTA others(312): Show CAAAACTAGAAGGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0314 a0001c0001t0024g0314	1	360	0.0028	319	c.165 others(336): Show c.165-3793_165-3792insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAACTAGAAGGGA	RNF125	ENSG00000101695.9	transcript	ENST00000217740.4	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
RNF139_chr8_124469880_124493618	124483113	A A	AATATATA others(312): Show AATATATATATTTAAATATATATATCTTTAAATATGTATATTTAAATTAT ATAATTTAAATATATATTAATATACATATTTTAATATATATAATTTAATA TATATCTTTAAATATTTAAAGATATATATTAAATTATATATATTAAAATA TGTATATTAATATATATTTAAATTATATAATTTAAATATACATATTTAAA GATATATATATTTAAATATATATATTTTTAATATATATATTTTTAAATAT ATATATATTTATATATATATTTTTATATATATATATTTATATATATATTT TTAAATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02004.hp2 NA18998.hp2 HG02004.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0072 a0001c0001t0001g0064 a0001c0001t0001g0072	2	408	0.0049	319	c.182 others(336): Show c.182-2703_182-2702insTATATATATCTTTAAATATGTATATTTA AATTATATAATTTAAATATATATTAATATACATATTTTAATATATATAAT TTAATATATATCTTTAAATATTTAAAGATATATATTAAATTATATATATT AAAATATGTATATTAATATATATTTAAATTATATAATTTAAATATACATA TTTAAAGATATATATATTTAAATATATATATTTTTAATATATATATTTTT AAATATATATATATTTATATATATATTTTTATATATATATATTTATATAT ATATTTTTAAATATATATATATATTTATATATATATTTAAA	RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
RNF150_chr4_140854807_141138469	141110579	T T	TTTAATTT others(312): Show TTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGG ACTATAGGCACGCGCCACCATGCCCGGCTAATTTTTGTATTTTTTTTTTT TTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0152 a0001c0001t0037g0152	1	184	0.0054	319	c.484 others(338): Show c.484+21745_484+21746insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAAA AAAAATACAAAAATTAGCCGGGCATGGTGGCGCGTGCCTATAGTCCCAGC TACACGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCT TGCAGTGAGTCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCG AAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAATTAA	RNF150	ENSG00000170153.11	transcript	ENST00000515673.7	protein_coding	1/6			chr4	TogoVar
RNF152_chr18_61803067_61898007	61897584	T T	TAAGAAAT others(312): Show TAAGAAATACTGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGA GGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTA AAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGT AGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAA TGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACT GCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG03579.hp2 HG02622.hp1 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0028 a0001c0002t0065 a0001c0002t0028 a0001c0002t0065	a0001c0002t0028g0187 a0001c0002t0065g0188 a0001c0002t0028g0187 a0001c0002t0065g0188	2	310	0.0065	319	c.-49 others(330): Show c.-4926_-4925insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCAGTATTTCTT	RNF152	ENSG00000176641.11	transcript	ENST00000312828.4	protein_coding		4578		chr18	TogoVar
RNF17_chr13_24759169_24884921	24881964	A A	ATATAGAT others(312): Show ATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATAT ATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATAT AGATACATCTATATATAGATACATCTATATATAGATACATCTATATATAG ATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGAT ACATCATCTATATATAGATACATCTATATATAGATACATCTATATATAGA TACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATA CATCTATATATAGATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0303 a0001c0001t0001g0303	1	426	0.0024	319	c.22 others(330): Show c.2238_*2239insTATAGATACATCTATATATAGATACATCTATATA TAGATACATCTATATATAGATACATCTATATATAGATACATCTATATATA GATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGA TACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATA CATCTATATATAGATACATCATCTATATATAGATACATCTATATATAGAT ACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATAC ATCTATATATAGATACATCTATATATAGATACATC	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2044		chr13	TogoVar

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