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
PIMREG_chr17_6439455_6456469	6455774	A A	AGGGGAGG others(357): Show AGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGGGAGGGGGAAGAGGGGAA GGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAGGGAAGAGGGAAGAGGG GAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGA GGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGG GGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGG AGGGGGAAGAGGGGCAAGGGGGGAGGGGAGACGGCGGTGCCGGGCGGGGA AGGGCGGGTCGGAGCGTCGGGGCGGGTCGTTCCGCTGAGCGGCCGTTGAA GGGGCCTCGGGACTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0093 a0001c0002t0004g0093	1	312	0.0032	364	c.54 others(375): Show c.5427_*5428insGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGGGA GGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAGG GAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGG GAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGA AGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAG AGGGGAAGGGAGGGGAGGGGGAAGAGGGGCAAGGGGGGAGGGGAGACGGC GGTGCCGGGCGGGGAAGGGCGGGTCGGAGCGTCGGGGCGGGTCGTTCCGC TGAGCGGCCGTTGAAGGGGCCTCGGGACTT	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4306		chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6561372	T T	TCCTCCTC others(357): Show TCCTCCTCCTCCTCTTCCTCCTCCTTCTCCTCTTCCTCCTCCTAGTCCTC CTCCTCCTCCCCTCCTCCTCTTCCTCCTCCTCCTTCTCATTATCCTCCTT CTCATTCTCTCCCTTCTCCTCCTCTTCCTTCTCATTCTCTCCCTTCTCCT CCTCTTCCTTCTCTCCTCTTCTCCTCCTTCTTCTCCTTTTCCTCCTCCTT CTCTTCTTCCTCTTCTTCTTCCTCCTCCTCCCCTCCTTTTCCTCCTCCTC CTCTTTCTTCTCCTCTTCCTCCTCCTCCGCCCCCTCTCTCCTCCTTCTCC TCATCCTCCTTCCCTCCTCTTCCTCCTTTCCTCCTTCTCCTCCCCTCCTC CTCCCCTCTTCCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0152 a0001c0001t0022g0152	1	218	0.0046	364	c.-49 others(375): Show c.-4967_-4966insGGAGGAAGAGGGGAGGAGGAGGGGAGGAGAAGGA GGAAAGGAGGAAGAGGAGGGAAGGAGGATGAGGAGAAGGAGGAGAGAGGG GGCGGAGGAGGAGGAAGAGGAGAAGAAAGAGGAGGAGGAGGAAAAGGAGG GGAGGAGGAGGAAGAAGAAGAGGAAGAAGAGAAGGAGGAGGAAAAGGAGA AGAAGGAGGAGAAGAGGAGAGAAGGAAGAGGAGGAGAAGGGAGAGAATGA GAAGGAAGAGGAGGAGAAGGGAGAGAATGAGAAGGAGGATAATGAGAAGG AGGAGGAGGAAGAGGAGGAGGGGAGGAGGAGGAGGACTAGGAGGAGGAAG AGGAGAAGGAGGAGGAAGAGGAGGAGGAGG	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding		4818		chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6561372	T T	TCCTCCTC others(357): Show TCCTCCTCCTCCTCTTCCTCCTCCTTCTCCTCTTCCTCCTCCTAGTCCTC CTCCTCCTCCCCTCCTCCTCTTCCTCCTCCTCCTTCTCATTATCCTCCTT CTCATTCTCTCCCTTCTCCTCCTCTTCCTTCTCCTCCTCTTCTCCTCCTT CTTCTCCTTTTCCTCCTCCTTCTCTTCTTCCTCTTCTTCTTCCTCCTCCT CCCCTCCTTTTCCTCCTCCTCCTCTTTCTTCTCCTCTTCCTCCTCCTCCG CCCCCTCTTCCTCCTTCTCCTCATCCTCCTTCCCTCCTCTTCCTCCTTTT CCTCCTTCTCCTCCCCTCTTCCTCCTCTTCCTCCTCCTCCTCCCCTCCTC CTCCCCTCTTCCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02451.hp2 HG03209.hp1 others(1): Show HG01891.hp2 HG02451.hp2 HG03209.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0013 a0001c0001t0023 a0001c0001t0011 a0001c0001t0013 a0001c0001t0023	a0001c0001t0011g0184 a0001c0001t0013g0195 a0001c0001t0023g0193 others(1): Show a0001c0001t0011g0184 a0001c0001t0013g0195 a0001c0001t0023g0193 a0001c0001t0023g0194	4	218	0.0184	364	c.-49 others(375): Show c.-4967_-4966insGGAGGAAGAGGGGAGGAGGAGGGGAGGAGGAGGA GGAAGAGGAGGAAGAGGGGAGGAGAAGGAGGAAAAGGAGGAAGAGGAGGG AAGGAGGATGAGGAGAAGGAGGAAGAGGGGGCGGAGGAGGAGGAAGAGGA GAAGAAAGAGGAGGAGGAGGAAAAGGAGGGGAGGAGGAGGAAGAAGAAGA GGAAGAAGAGAAGGAGGAGGAAAAGGAGAAGAAGGAGGAGAAGAGGAGGA GAAGGAAGAGGAGGAGAAGGGAGAGAATGAGAAGGAGGATAATGAGAAGG AGGAGGAGGAAGAGGAGGAGGGGAGGAGGAGGAGGACTAGGAGGAGGAAG AGGAGAAGGAGGAGGAAGAGGAGGAGGAGG	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding		4818		chr17	TogoVar
PKP3_chr11_389209_409908	401878	G G	GGCCCCGC others(357): Show GGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGGCC CCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCT CACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCAC ACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCACACC CGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGC CCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCG CTCACACCCGCCCCGCTCACCCCCAGCCCCGCTCACACCCGCCCCGCTCA CCCCCGGCCCCGCTC	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0158 a0001c0002t0001g0158	1	216	0.0046	364	c.173 others(383): Show c.1737+1173_1737+1174insGCCCCGCTCACACCCGCCCCGCTCAC ACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCC GCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCC CCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGC TCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCA CACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACC CGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCAGC CCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12			chr11	TogoVar
PLEKHG4B_chr5_87168_194966	165262	T T	TCACAGTA others(357): Show TCACAGTAATCCTCTGATGGGGTGGAGCTCACACTAATGCTCTGACGGGG CGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACACTAATGCTCTG ACGGGGCGGGGCTCACACTAATGCTCTGACGGGGCGGGGCTCACACTAAC GCTCTGACGGGGCGGGGCTCAGTAATCCTCTGACGGGGCGGAGCTCACAC TAATGCTCTGACGGGGCGGGGCTCACACTAATGCTCTGACAGGGCGGGGC TCACAGTAATCCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGG CGGGGCTCACACTAATGCTCTGACGGGGCGGGGCTCACACTAATGCTCTG ATGGGGCGGAGCTCA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0019 a0009c0014t0019	a0009c0014t0019g0205 a0009c0014t0019g0205	1	210	0.0048	364	c.347 others(383): Show c.3476+1717_3476+1718insAGTAATCCTCTGATGGGGTGGAGCTC ACACTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCG GGGCTCACACTAATGCTCTGACGGGGCGGGGCTCACACTAATGCTCTGAC GGGGCGGGGCTCACACTAACGCTCTGACGGGGCGGGGCTCAGTAATCCTC TGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACACTA ATGCTCTGACAGGGCGGGGCTCACAGTAATCCTCTGACGGGGCGGAGCTC ACACTAATGCTCTGACGGGGCGGGGCTCACACTAATGCTCTGACGGGGCG GGGCTCACACTAATGCTCTGATGGGGCGGAGCTCACAC	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLPP1_chr5_55419854_55539964	55433460	T T	TTCAGTAA others(357): Show TTCAGTAAAGTTTTTTGTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCGGGACTGAGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGC TTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCA TGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCCTGAGCC ACCGCGCCCGGCCAC	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18969.hp1 NA18966.hp2 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0269 a0001c0001t0001g0149 a0001c0001t0001g0269	2	294	0.0068	364	c.550 others(381): Show c.550-7422_550-7421insGTGGCCGGGCGCGGTGGCTCAGGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCTCAGTCCCGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAACAAAAAAAAACAAAAAACTTTACTGA	PLPP1	ENSG00000067113.17	transcript	ENST00000307259.9	protein_coding	4/5			chr5	TogoVar
PLPP2_chr19_276043_296403	291612	G G	GGGGGGGA others(357): Show GGGGGGGACGGCAGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGGG GAGGGCAGCAGGGGAGAGGGGAGGAGGGGAGGGGCGGGGAGGGGAGGGGA GGAGGGAGGGGGAGGGGAGGAGGGAGGGGGGACGGCAGCGGCGGGCAGGG GAGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGGAGGGGAGGGAGG GGAAGGGGAGGAGGGGGGGAGGGGAGGGGAGGAAGGCGGGGACGGCAGCG GCGGGCAGGGGAGCAGCGGGCGGGGCGGGGAGGAGGGGAGGGTTAGGGGC GGGGAGGGGAGGAGGGAGGGGGCGGGGAGGGGAGAGGGGGGAGGGGAGGA GGGAGGGGGAGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02809.hp2 HG02723.hp1 HG02809.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0047 a0002c0002t0001g0186 a0002c0002t0001g0047 a0002c0002t0001g0186	2	354	0.0057	364	c.-27 others(373): Show c.-277_-276insTCCCCTCCCCCTCCCTCCTCCCCTCCCCCCTCTCCC CTCCCCGCCCCCTCCCTCCTCCCCTCCCCGCCCCTAACCCTCCCCTCCTC CCCGCCCCGCCCGCTGCTCCCCTGCCCGCCGCTGCCGTCCCCGCCTTCCT CCCCTCCCCTCCCCCCCTCCTCCCCTTCCCCTCCCTCCCCTCCTCCCCGC CCCGCCCGCCGCTCCCCTGCCCGCCGCTCCCCTGCCCGCCGCTGCCGTCC CCCCTCCCTCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCTCCCCGCCCCT CCCCTCCTCCCCTCTCCCCTGCTGCCCTCCCCTCCCCGCCCCGCCCGCCG CTCCCCTGCCCGCCGCTGCCGTCCCCCC	PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding		210		chr19	TogoVar
POLG_chr15_89311320_89339824	89325147	T T	TGAGTGAG others(357): Show TGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAG AGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAG TGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAG TGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAG AGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAG TGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTG AGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTG AGAGAGTGAGTGAGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0201 a0002c0002t0001g0201	1	398	0.0025	364	c.194 others(381): Show c.1949+302_1949+303insTCTCACTCACTCTCTCACTCACTCACTC TCTCTCACTCTCTCACTCACTCACTCTCTCACTCACTCACTCACTCACTC ACTCTCTCACTCACTCACTCACTCACTCACTCTCTCACTCTCTCACTCAC TCACTCACTCACTCACTCTCTCACTCTCTCACTCACTCTCTCACTCACTC ACTCTCTCACTCTCTCACTCACTCACTCACTCACTCACTCTCTCACTCAC TCTCTCACTCACTCACTCACTCTCTCTCACTCTCTCACTCACTCACTCTC TCACTCACTCTCTCACTCACTCACTCTCTCACTCACTCTCTCACTCACTC ACTCTCTCACTCTCTCACTCACTCACTCACTCACTC	POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding	10/22			chr15	TogoVar
POLG_chr15_89311320_89339824	89325171	A A	AGAGTGAG others(357): Show AGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTG AGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTG AGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAG AGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGAGAGTG AGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGTGAG TGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAG AGTGAGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTG AGTGAGTGAGTGAGT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	398	0.0025	364	c.194 others(381): Show c.1949+278_1949+279insACTCACTCACTCACTCACTCACTCTCTC ACTCACTCTCTCACTCACTCACTCACTCTCTCTCACTCTCTCACTCACTC ACTCTCTCACTCACTCACTCACTCACTCTCTCACTCACTCACTCACTCAC TCACTCTCTCACTCTCTCACTCACTCACTCACTCACTCACTCTCTCACTC TCTCACTCACTCTCTCACTCACTCACTCTCTCACTCTCTCACTCACTCAC TCACTCACTCACTCTCTCACTCACTCTCTCACTCACTCACTCACTCTCTC TCACTCTCTCACTCACTCACTCTCTCACTCACTCTCTCACTCACTCACTC TCTCACTCACTCTCTCACTCACTCACTCTCTCACTC	POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding	10/22			chr15	TogoVar
PPP6R2_chr22_50338327_50450090	50343724	T T	TCAGTCAG others(357): Show TCAGTCAGTGCCCCCTCCAGTCAGTTCCCCCCCAGTTAGTGCACCCTCTA GTCAGTTCCCCCAGTCAGTGCCCCCTCCAGTCAGTTCCCCCCCAGTCAGT TCCCCCCCAGTCAGTTTCCCCCCAGTCAGTTTCCCCCCAGTCAGTGCCCC CCAGTCAGTGCCCCCTCCAGTCAGTTCCCCCCCAGTCAGTGCCCCCTCCA GTCAGTTTCCCCCCAGTCAGTGCCCCCTCCAGTCAGTTCCCCCCCAGTCA GTGCCTCCTCCAGTCAGTTTCCCCCAGTCAGTGCCTCCTCCAGTCAGTTT CCCCCAGTCAGTGCCCCCTCCAGTCAGTTCCCCCCCCAGTCAGTGCCCCC CCAGTCAGTGCCCCC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02559.hp1 HG02886.hp2 others(1): Show HG01255.hp2 HG02559.hp1 HG02886.hp2 HG03516.hp1	a0004 a0004	a0004c0009 a0004c0015 a0004c0009 a0004c0015	a0004c0009t0008 a0004c0015t0008 a0004c0009t0008 a0004c0015t0008	a0004c0009t0008g0112 a0004c0009t0008g0113 a0004c0015t0008g0114 others(1): Show a0004c0009t0008g0112 a0004c0009t0008g0113 a0004c0015t0008g0114 a0004c0015t0008g0115	4	340	0.0118	364	c.-14 others(381): Show c.-148+523_-148+524insCCAGTCAGTGCCCCCCAGTCAGTGCCCC CTCCAGTCAGTTCCCCCCCAGTTAGTGCACCCTCTAGTCAGTTCCCCCAG TCAGTGCCCCCTCCAGTCAGTTCCCCCCCAGTCAGTTCCCCCCCAGTCAG TTTCCCCCCAGTCAGTTTCCCCCCAGTCAGTGCCCCCCAGTCAGTGCCCC CTCCAGTCAGTTCCCCCCCAGTCAGTGCCCCCTCCAGTCAGTTTCCCCCC AGTCAGTGCCCCCTCCAGTCAGTTCCCCCCCAGTCAGTGCCTCCTCCAGT CAGTTTCCCCCAGTCAGTGCCTCCTCCAGTCAGTTTCCCCCAGTCAGTGC CCCCTCCAGTCAGTTCCCCCCCCAGTCAGTGCCCCC	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PRKCZ_chr1_2045411_2190395	2123213	G G	GTAGTTAG others(357): Show GTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCAC GGCTGTAGTTAGGGTCACGGTGGTAGTTAGGATCATGGCTGTAGTTAGGG TCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTT AGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGT AGTTAGGGTCACGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGG TGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTC ACAGCGATAGTTAGCGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAG GGTCATGGTGGTAGT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0035 a0001c0002t0002g0035	1	286	0.0035	364	c.335 others(383): Show c.335-12046_335-12045insTTAGGGTCATGGTGGTAGTTAGGGTC ATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCACGGTGGTAGTTAG GATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAG TTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTG GTAGTTAGGGTCACGGCTGTAGTTAGGGTCACGGTGGTAGTTAGGATCAT GGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGG TCATGGTGGTAGTTAGGGTCACAGCGATAGTTAGCGTCATGGTGGTAGTT AGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRSS33_chr16_2778953_2792560	2787264	C C	CTCACCCC others(357): Show CTCACCCCCTCCCTCATCCTTCACCCCCTCCCTCATCCTCACTCCTCTCT CATCACCCCTCCTCCATCCTTCACCCCCCCATCGTCACCCCCTCCCTCAT CCTCACCCCCTTCCTCCTCACTCCCCTCCCTCATCCTCACCCCCTCCCCC ATCCTTCACCCCTCCTCGTCCTCACCCTCATCCTCACCCCCTCCTCTATC CTCACCCCCTCCTCCATCCTCAGCCCCCTCCTCCTCACTCCCCTCCCTCA TCCTCACCCCTGTCTCATCCTCACCCCCTCCCCCATCCTTCACCCCCTCC CTCATCCTTCACCCCCTCCCCCATCCTTCACCCCCTCCCCCATCCTTCAC CCCCTCCCCCATCCT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02523.hp2 NA18945.hp2 others(4): Show HG00423.hp1 HG02523.hp2 NA18945.hp2 NA18966.hp2 NA18967.hp1 NA18971.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0029 a0001c0001t0001g0077 a0001c0001t0001g0012 a0001c0001t0001g0029 a0001c0001t0001g0077	7	386	0.0181	364	c.-58 others(379): Show c.-58+268_-58+269insAGGATGGGGGAGGGGGTGAAGGATGGGGGA GGGGGTGAAGGATGGGGGAGGGGGTGAAGGATGAGGGAGGGGGTGAAGGA TGGGGGAGGGGGTGAGGATGAGACAGGGGTGAGGATGAGGGAGGGGAGTG AGGAGGAGGGGGCTGAGGATGGAGGAGGGGGTGAGGATAGAGGAGGGGGT GAGGATGAGGGTGAGGACGAGGAGGGGTGAAGGATGGGGGAGGGGGTGAG GATGAGGGAGGGGAGTGAGGAGGAAGGGGGTGAGGATGAGGGAGGGGGTG ACGATGGGGGGGTGAAGGATGGAGGAGGGGTGATGAGAGAGGAGTGAGGA TGAGGGAGGGGGTGAAGGATGAGGGAGGGGGTGA	PRSS33	ENSG00000103355.14	transcript	ENST00000682474.1	protein_coding	1/6			chr16	TogoVar
PRSS33_chr16_2778953_2792560	2787264	C C	CTCACCCC others(357): Show CTCACCCCCTCCCTCATCCTTCACCCCCTCCCTCATCCTCACTCCTCTCT CATCACCCCTCCTCCATCCTTCACCCCCCCATCGTCACCCCCTCCCTCAT CCTCACCCCCTTCCTCCTCACTCCCCTCCCTCATCCTCACCCCCTCCCCC ATCCTTCACCCCTCCTCGTCCTCACCCTCATCCTCACCCCCTCCTCTATC CTCACCCCCTCCTCCATCCTCAGCCCCCTCCTCCTCACTCCCCTCCCTCA TCCTCACCCCTGTCTCATCCTCACCCCCTCCCCCATCCTTCACCCCCTCC CTCATCCTTCACCCCCTCCCCCATCCTTCACCCCCTCCCCCATCCTTCAC CCCCTCCCTCATCCT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp2 HG00544.hp1 others(147): Show HG00323.hp2 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG01070.hp1 HG01168.hp1 HG01169.hp1 HG01243.hp1 HG01346.hp1 HG01361.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01891.hp2 HG01934.hp2 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG02040.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02559.hp2 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02895.hp1 HG02897.hp1 HG02970.hp2 HG02976.hp1 HG03195.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03688.hp2 HG03704.hp2 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp1 HG04228.hp2 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18945.hp1 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18990.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19005.hp1 NA19005.hp2 NA19006.hp2 NA19009.hp2 NA19043.hp1 NA19054.hp1 NA19060.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19070.hp1 NA19074.hp1 NA19080.hp2 NA19081.hp2 NA19083.hp2 NA19085.hp1 NA19087.hp1 NA19087.hp2 NA19089.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20752.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0001c0001t0001 a0001c0001t0004 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(11): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0004g0067 a0002c0002t0001g0008	150	386	0.3886	364	c.-58 others(379): Show c.-58+268_-58+269insAGGATGAGGGAGGGGGTGAAGGATGGGGGA GGGGGTGAAGGATGGGGGAGGGGGTGAAGGATGAGGGAGGGGGTGAAGGA TGGGGGAGGGGGTGAGGATGAGACAGGGGTGAGGATGAGGGAGGGGAGTG AGGAGGAGGGGGCTGAGGATGGAGGAGGGGGTGAGGATAGAGGAGGGGGT GAGGATGAGGGTGAGGACGAGGAGGGGTGAAGGATGGGGGAGGGGGTGAG GATGAGGGAGGGGAGTGAGGAGGAAGGGGGTGAGGATGAGGGAGGGGGTG ACGATGGGGGGGTGAAGGATGGAGGAGGGGTGATGAGAGAGGAGTGAGGA TGAGGGAGGGGGTGAAGGATGAGGGAGGGGGTGA	PRSS33	ENSG00000103355.14	transcript	ENST00000682474.1	protein_coding	1/6			chr16	TogoVar
PRSS33_chr16_2778953_2792560	2787264	C C	CTCACCCC others(357): Show CTCACCCCCTCCCTCATCCTTCACCCCCTCCCTCATCCTCACTCCTCTCT CATCACCCCTCCTCCATCCTTCACCCCCCCATCGTCACCCCCTCCCTCAT CCTCACCCCCTTCCTCCTCACTCCCCTCCCTCATCCTCACCCCCTCCCCC ATCCTTCACCCCTCCTCGTCCTCACCCTCATCCTCACCCCCTCCTCTATC CTCACCCCCTCCTCCATCCTCAGCCCCCTCCTCCTCACTCCCCTCCCTCA TCCTCACCCCTGTCTCCTCCTCACCCCCTCCCCCATCCTTCACCCCCTCC CTCATCCTTCACCCCCTCCCCCATCCTTCACCCCCTCCCCCATCCTTCAC CCCCTCCCTCATCCT	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	386	0.0026	364	c.-58 others(379): Show c.-58+268_-58+269insAGGATGAGGGAGGGGGTGAAGGATGGGGGA GGGGGTGAAGGATGGGGGAGGGGGTGAAGGATGAGGGAGGGGGTGAAGGA TGGGGGAGGGGGTGAGGAGGAGACAGGGGTGAGGATGAGGGAGGGGAGTG AGGAGGAGGGGGCTGAGGATGGAGGAGGGGGTGAGGATAGAGGAGGGGGT GAGGATGAGGGTGAGGACGAGGAGGGGTGAAGGATGGGGGAGGGGGTGAG GATGAGGGAGGGGAGTGAGGAGGAAGGGGGTGAGGATGAGGGAGGGGGTG ACGATGGGGGGGTGAAGGATGGAGGAGGGGTGATGAGAGAGGAGTGAGGA TGAGGGAGGGGGTGAAGGATGAGGGAGGGGGTGA	PRSS33	ENSG00000103355.14	transcript	ENST00000682474.1	protein_coding	1/6			chr16	TogoVar
PRSS33_chr16_2778953_2792560	2787264	C C	CTCACCCC others(357): Show CTCACCCCCTCCCTCATCCTTCACCCCCTCCCTCATCCTCACTCCTCTCT CATCACCCCTCCTCCATCCTTCACCCCCCCATCGTCACCCCCTCCCTCAT CCTCACCCCCTTCCTCCTCACTCCCCTCCCTCATCCTCACCCCCTCCCCC ATCCTTCACCCCTCCTCGTCCTCACCCTCATCCTCACCCCCTCCTCTATC CTCACCCCCTCCTCCATCCTCAGCCCCCTCCTCCTCACTCCCTTCCCTCA TCCTCACCCCTGTCTCATCCTCACCCCCTCCCCCATCCTTCACCCCCTCC CTCATCCTTCACCCCCTCCCCCATCCTTCACCCCCTCCCCCATCCTTCAC CCCCTCCCTCATCCT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	386	0.0026	364	c.-58 others(379): Show c.-58+268_-58+269insAGGATGAGGGAGGGGGTGAAGGATGGGGGA GGGGGTGAAGGATGGGGGAGGGGGTGAAGGATGAGGGAGGGGGTGAAGGA TGGGGGAGGGGGTGAGGATGAGACAGGGGTGAGGATGAGGGAAGGGAGTG AGGAGGAGGGGGCTGAGGATGGAGGAGGGGGTGAGGATAGAGGAGGGGGT GAGGATGAGGGTGAGGACGAGGAGGGGTGAAGGATGGGGGAGGGGGTGAG GATGAGGGAGGGGAGTGAGGAGGAAGGGGGTGAGGATGAGGGAGGGGGTG ACGATGGGGGGGTGAAGGATGGAGGAGGGGTGATGAGAGAGGAGTGAGGA TGAGGGAGGGGGTGAAGGATGAGGGAGGGGGTGA	PRSS33	ENSG00000103355.14	transcript	ENST00000682474.1	protein_coding	1/6			chr16	TogoVar
PRSS33_chr16_2778953_2792560	2787264	C C	CTCACCCC others(357): Show CTCACCCCCTCCCTCATCCTTCACCCCCTCCCTCATCCTCACTCCTCTCT CATCACCCCTCCTCCATCCTTCACTCCCCCATCGTCACCCCCTCCCTCAT CCTCACCCCCTTCCTCCTCACTCCCCTCCCTCATCCTCACCCCCTCCCCC ATCCTTCACCCCTCCTCGTCCTCACCCTCATCCTCACCCCCTCCTCTATC CTCACCCCCTCCTCCATCCTCAGCCCCCTCCTCCTCACTCCCCTCCCTCA TCCTCACCCCTGTCTCATCCTCACCCCCTCCCCCATCCTTCACCCCCTCC CTCATCCTTCACCCCCTCCCCCATCCTTCACCCCCTCCCCCATCCTTCAC CCCCTCCCTCATCCT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	386	0.0026	364	c.-58 others(379): Show c.-58+268_-58+269insAGGATGAGGGAGGGGGTGAAGGATGGGGGA GGGGGTGAAGGATGGGGGAGGGGGTGAAGGATGAGGGAGGGGGTGAAGGA TGGGGGAGGGGGTGAGGATGAGACAGGGGTGAGGATGAGGGAGGGGAGTG AGGAGGAGGGGGCTGAGGATGGAGGAGGGGGTGAGGATAGAGGAGGGGGT GAGGATGAGGGTGAGGACGAGGAGGGGTGAAGGATGGGGGAGGGGGTGAG GATGAGGGAGGGGAGTGAGGAGGAAGGGGGTGAGGATGAGGGAGGGGGTG ACGATGGGGGAGTGAAGGATGGAGGAGGGGTGATGAGAGAGGAGTGAGGA TGAGGGAGGGGGTGAAGGATGAGGGAGGGGGTGA	PRSS33	ENSG00000103355.14	transcript	ENST00000682474.1	protein_coding	1/6			chr16	TogoVar
PRSS33_chr16_2778953_2792560	2787288	C C	CCCCTCCC others(357): Show CCCCTCCCTCATCCTCACTCCTCTCTCATCACCCCTCCTCCATCCTTCAC CCCCCCATCGTCACCCCCTCCCTCATCCTCACCCCCTTCCTCCTCACTCC CCTCCCTCATCCTCACCCCCTCCCCCATCCTTCACCCCTCCTCGTCCTCA CCCTCATCCTCACCCCCTCCTCTATCCTCACCCCCTCCTCCATCCTCAGC CCCCTCCTCCTCACTCCCCTCCCTCATCCTCACCCCTGTCTCATCCTCAC CCCCTCCCCCATCCTTCACCCCCTCCCTCATCCTTCACCCCCTCCCCCAT CCTTCACCCCCTCCCCCATCCTTCACCCCCTCCCTCATCCTTCACCCCCT CCCTCATCCTTCACT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	386	0.0026	364	c.-58 others(379): Show c.-58+244_-58+245insAGTGAAGGATGAGGGAGGGGGTGAAGGATG AGGGAGGGGGTGAAGGATGGGGGAGGGGGTGAAGGATGGGGGAGGGGGTG AAGGATGAGGGAGGGGGTGAAGGATGGGGGAGGGGGTGAGGATGAGACAG GGGTGAGGATGAGGGAGGGGAGTGAGGAGGAGGGGGCTGAGGATGGAGGA GGGGGTGAGGATAGAGGAGGGGGTGAGGATGAGGGTGAGGACGAGGAGGG GTGAAGGATGGGGGAGGGGGTGAGGATGAGGGAGGGGAGTGAGGAGGAAG GGGGTGAGGATGAGGGAGGGGGTGACGATGGGGGGGTGAAGGATGGAGGA GGGGTGATGAGAGAGGAGTGAGGATGAGGGAGGG	PRSS33	ENSG00000103355.14	transcript	ENST00000682474.1	protein_coding	1/6			chr16	TogoVar
PRSS33_chr16_2778953_2792560	2787318	A A	ACCCCTCC others(357): Show ACCCCTCCTCCATCCTTCACCCCCCCATCGTCACCCCCTCCCTCATCCTC ACCCCCTTCCTCCTCACTCCCCTCCCTCATCCTCACCCCCTCCCCCATCC TTCACCCCTCCTCGTCCTCACCCTCATCCTCACCCCCTCCTCTATCCTCA CCCCCTCCTCCATCCTCAGCCCCCTCCTCCTCACTCCCCTCCCTCATCCT CACCCCTGTCTCATCCTCACCCCCTCCCCCATCCTTCACCCCCTCCCTCA TCCTTCACCCCCTCCCCCATCCTTCACCCCCTCCCCCATCCTTCACCCCC TCCCTCATCCTTCACCCCCTCCCTCATCCTTCACCCCCTCCCTCATCCTC ACTCCTCTCTCATCG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03195.hp2 NA18906.hp2 HG02886.hp1 HG03195.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0014 a0001c0001t0003g0014	3	386	0.0078	364	c.-58 others(379): Show c.-58+214_-58+215insCGATGAGAGAGGAGTGAGGATGAGGGAGGG GGTGAAGGATGAGGGAGGGGGTGAAGGATGAGGGAGGGGGTGAAGGATGG GGGAGGGGGTGAAGGATGGGGGAGGGGGTGAAGGATGAGGGAGGGGGTGA AGGATGGGGGAGGGGGTGAGGATGAGACAGGGGTGAGGATGAGGGAGGGG AGTGAGGAGGAGGGGGCTGAGGATGGAGGAGGGGGTGAGGATAGAGGAGG GGGTGAGGATGAGGGTGAGGACGAGGAGGGGTGAAGGATGGGGGAGGGGG TGAGGATGAGGGAGGGGAGTGAGGAGGAAGGGGGTGAGGATGAGGGAGGG GGTGACGATGGGGGGGTGAAGGATGGAGGAGGGG	PRSS33	ENSG00000103355.14	transcript	ENST00000682474.1	protein_coding	1/6			chr16	TogoVar
PWWP2B_chr10_132392200_132422859	132392564	G G	GTGATGAT others(357): Show GTGATGATGGTGATGGTGATGATGATGGTGGTGGTGGTGATGTGATAATG GTGATGGTGATGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGT GATGATGATGGTGATGGTGGTGGTGGTGATAATGGTGATGGTGATGGTGG TGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTG ATGGTAGTGGTGATGGGGGTGGTGGTAATGGTGATGATGGTGATGGTGAT GATGATGGTGGTGGTGGTGATAATGGTGATGGTGATGGTGGTGGTAATGG TGATGGTGATGATGGTGATGTGATAATGGTGATGGTGATGGTAGTGGTGA TGGGGGTGGTGGTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0057 a0003c0005t0001g0057	1	374	0.0027	364	c.-46 others(375): Show c.-4663_-4662insTGATGATGGTGATGGTGATGATGATGGTGGTGGT GGTGATGTGATAATGGTGATGGTGATGGTGGTGGTGGTAATGGTGATGGT GATGATGGTGATGGTGATGATGATGGTGATGGTGGTGGTGGTGATAATGG TGATGGTGATGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTG ATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGGTGAT GATGGTGATGGTGATGATGATGGTGGTGGTGGTGATAATGGTGATGGTGA TGGTGGTGGTAATGGTGATGGTGATGATGGTGATGTGATAATGGTGATGG TGATGGTAGTGGTGATGGGGGTGGTGGTAA	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding		4635		chr10	TogoVar
RAB11FIP3_chr16_420649_528011	492388	A A	AGCCCTCC others(357): Show AGCCCTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGATCCGA GGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCG GGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCA GAGCCCTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCG AGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCC CGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGGCCGCC CAGGGCCCTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGAC CCGAGGCCGCCCAGG	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0141 a0001c0002t0002g0141	1	295	0.0034	364	c.126 others(383): Show c.1265+3396_1265+3397insGGGAGACCCGAGGCCGCCCAGAGCCC TCCCGGGAGATCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCG CCCAGGGCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAG ACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGAGCC CTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGC CGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGG AGACCCGAGGCCGCCCAGGGCCCTCCCGGGAGACCCGAGGCCGCCCAGAG CCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	504418	C C	CCTCACCT others(357): Show CCTCACCTCCTCCTGCACTCCCATCTCCTCCTGTACCCCCTCACCTCCTT GTGCACCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTCA CCTCTTCCTGTACCACCTCCTCCTGTACCCCCTCACCTCCTCTTGCACCC CCCTTGCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTG TACCCCCCTCACCTCCTCCTGTACCCGCCTCACCTCCTCCTGCACTCCCA TCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCCCACCTCCTGTACC CCCTCACCTCCTCCTGTACCCCCCTCACCTCCTCCTGTACCCCCTCACCT CCTCCTGTACCCCCT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG03579.hp2 HG01069.hp1 HG01071.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0021 a0001c0006t0032 a0001c0001t0021 a0001c0006t0032	a0001c0001t0021g0001 a0001c0006t0032g0270 a0001c0001t0021g0001 a0001c0006t0032g0270	3	295	0.0102	364	c.139 others(383): Show c.1396-1105_1396-1104insTCACCTCCTCCTGCACTCCCATCTCC TCCTGTACCCCCTCACCTCCTTGTGCACCCCTCACCTCCTGTACCCCCTC ACCTCCTCCTGTACCCCCCTCACCTCTTCCTGTACCACCTCCTCCTGTAC CCCCTCACCTCCTCTTGCACCCCCCTTGCCTCCTGTACCCCCTCACCTCC TTGTGCACCCCCTCACCTCCTGTACCCCCCTCACCTCCTCCTGTACCCGC CTCACCTCCTCCTGCACTCCCATCTCCTCCTGTACCCCCTCACCTCCTTG TGCACCCCCCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTCAC CTCCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RHOBTB1_chr10_60864438_60949185	60927999	T T	TAAAAATG others(357): Show TAAAAATGGCAAAGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCTGGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	316	0.0032	364	c.-11 others(383): Show c.-11+13804_-11+13805insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCCAGACTGCGGACTGCAGTGGCGCAATCTCGGCTCA CTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCCCTTTGCCATTTTT	RHOBTB1	ENSG00000072422.17	transcript	ENST00000337910.10	protein_coding	2/10			chr10	TogoVar
RIMBP2_chr12_130391133_130721299	130392257	C C	CATGTCCG others(357): Show CATGTCCGTCAGTTACCTGGTAAATATTGAATGTTGTGATGACCTGGTCA CCGTCATCACGTGTGTCCATCAGTTACCTGGTGAATATTGAATGTTGTGA TGACCCGGTCACCGTCATCACGTGTGTCTGTCAGTTAACTGGTGAATATT GAATGTTGTGATGACCCGGTCACCGTCATCACGTGGGTGCGTCAGTTACC TGTTGAATATTGAGTGTTGTGATGACCCAGTCACCGTCATCACGTGTCCG TCAGTTAACTGGTGAATACTGAATGTTGTGATGGCCCGGTTGCCATCATC ACATGTGTCCGTCAGTTACCTGGTGAATACTGAATGTTGAGATGACCTGG TCACCGTCATCAAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00642.hp1 HG00741.hp1 others(40): Show HG00280.hp2 HG00642.hp1 HG00741.hp1 HG01069.hp1 HG01070.hp2 HG01074.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01261.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01884.hp1 HG01981.hp2 HG02083.hp1 HG02148.hp2 HG02698.hp1 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG03139.hp2 HG03195.hp2 HG03225.hp2 HG03491.hp1 HG03491.hp2 HG03579.hp2 HG03710.hp2 HG03834.hp1 NA18950.hp2 NA19010.hp2 NA19011.hp2 NA19030.hp2 NA19081.hp1 NA20752.hp1 NA20752.hp2	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0013	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0027 a0001c0028 a0002c0009 a0007c0018 a0013c0038	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(11): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0004t0007 a0001c0005t0001 a0001c0006t0001 a0001c0007t0001 a0001c0008t0001 a0001c0027t0001 a0001c0028t0001 a0002c0009t0001 a0007c0018t0001 a0013c0038t0001	a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0029 others(40): Show a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0098 a0001c0001t0001g0106 a0001c0001t0001g0127 a0001c0001t0001g0136 a0001c0001t0001g0146 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0002t0001g0021 a0001c0002t0001g0036 a0001c0002t0001g0051 a0001c0002t0001g0065 a0001c0002t0001g0110 a0001c0002t0001g0162 a0001c0002t0001g0177 a0001c0003t0001g0010 a0001c0003t0001g0048 a0001c0003t0001g0077 a0001c0003t0001g0116 a0001c0003t0001g0142 a0001c0003t0001g0154 a0001c0004t0001g0004 a0001c0004t0007g0053 a0001c0005t0001g0045 a0001c0005t0001g0085 a0001c0005t0001g0111 a0001c0006t0001g0009 a0001c0006t0001g0075 a0001c0006t0001g0076 a0001c0007t0001g0038 a0001c0007t0001g0149 a0001c0008t0001g0070 a0001c0008t0001g0134 a0001c0008t0001g0143 a0001c0027t0001g0057 a0001c0028t0001g0114 a0002c0009t0001g0147 a0007c0018t0001g0052 a0007c0018t0001g0059 a0013c0038t0001g0090	43	180	0.2389	364	c.51 others(375): Show c.5103_*5104insACTTGATGACGGTGACCAGGTCATCTCAACATTC AGTATTCACCAGGTAACTGACGGACACATGTGATGATGGCAACCGGGCCA TCACAACATTCAGTATTCACCAGTTAACTGACGGACACGTGATGACGGTG ACTGGGTCATCACAACACTCAATATTCAACAGGTAACTGACGCACCCACG TGATGACGGTGACCGGGTCATCACAACATTCAATATTCACCAGTTAACTG ACAGACACACGTGATGACGGTGACCGGGTCATCACAACATTCAATATTCA CCAGGTAACTGATGGACACACGTGATGACGGTGACCAGGTCATCACAACA TTCAATATTTACCAGGTAACTGACGGACAT	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding		3875		chr12	TogoVar
RIPOR3_chr20_50581108_50696542	50666223	T T	TTTTCTTT others(357): Show TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	280	0.0036	364	c.3+2 others(379): Show c.3+24902_3+24903insGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	1/21			chr20	TogoVar
RNF139_chr8_124469880_124493618	124483113	A A	AATATATA others(357): Show AATATATATATTTAAATATATATATCTTTAAATATGTATATTTAAATTAT ATAATTTAAATATATATTAATATACATATTTTAATTATATAATTTAATAT ATATCTTTAAATATATATTAATATATATTTAAAGATATATATTAAATTAT ATATATTAAAATATGTATATTAATATATATTTAAATTATATAATTTAAAT ATACATATTTAAAGATATATATATTTAAATATATATATTTTTAATATATA TATTTTTAAATATATATATATTTATATATATATTTTTATATATATATATT TATATATATATTTTTAAATATATATATATATTTATATATATATTTTTAAA TATATATATATATTT	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA19009.hp2 NA18960.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	2	408	0.0049	364	c.182 others(381): Show c.182-2703_182-2702insTATATATATCTTTAAATATGTATATTTA AATTATATAATTTAAATATATATTAATATACATATTTTAATTATATAATT TAATATATATCTTTAAATATATATTAATATATATTTAAAGATATATATTA AATTATATATATTAAAATATGTATATTAATATATATTTAAATTATATAAT TTAAATATACATATTTAAAGATATATATATTTAAATATATATATTTTTAA TATATATATTTTTAAATATATATATATTTATATATATATTTTTATATATA TATATTTATATATATATTTTTAAATATATATATATATTTATATATATATT TTTAAATATATATATATATTTATATATATATTTAAA	RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
RORA_chr15_60483284_61234302	60816082	G G	GTATACTG others(357): Show GTATACTGTAAACAGTATATGTATTTATATACTGTAAACAGTATATGTAT TTATATACTGTAAACAGTATATGTATTTATATACTGTAAACAGTATATGT ATTTATATACTGTAAACAGTATATGTATTTATATACTGTAAACAGTATAT GTATTTATATACTGTAAACAGTATATGTATTTATATACTGTAAACAGTAT ATGTATTTATATACTGTAAACAGTATATGTATTTATATACTGTAAACAGT ATATGTATTTATATACTGTAAACAGTATATGTATTTATATACTGTAAACA GTATATGTATTTATATACTGTAAACAGTATATGTATTTATATACTGTAAA CAGTATATGTATTTA	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA20300.hp2 NA19011.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0017 a0001c0001t0010 a0001c0001t0017	a0001c0001t0010g0081 a0001c0001t0017g0014 a0001c0001t0010g0081 a0001c0001t0017g0014	2	118	0.0170	364	c.167 others(385): Show c.167-137760_167-137397dupTAAATACATATACTGTTTACAGTA TATAAATACATATACTGTTTACAGTATATAAATACATATACTGTTTACAG TATATAAATACATATACTGTTTACAGTATATAAATACATATACTGTTTAC AGTATATAAATACATATACTGTTTACAGTATATAAATACATATACTGTTT ACAGTATATAAATACATATACTGTTTACAGTATATAAATACATATACTGT TTACAGTATATAAATACATATACTGTTTACAGTATATAAATACATATACT GTTTACAGTATATAAATACATATACTGTTTACAGTATATAAATACATATA CTGTTTACAGTATATAAATACATATACTGTTTACAGTATA	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10			chr15	TogoVar
RPH3AL_chr17_207389_357807	273219	T T	TGAGACCC others(357): Show TGAGACCCCAGCGAGGGTGACTTCAGGGTGAGACCCCAGCGAGGGCTACG TCAGGGTGAGACCCCAGCAAGGGTGACGTCAGGGAGAGACCCCGGCGAGG GTGACGTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGAGAGACCCCA GCGAGGGTGACGTCAGGGAGAGACCCCAGCGAGGGCGACGTCAGGGAGAG ACCCCAGCAAGGGTGACGTCAGGGAGAGACCCCAGCGAGGGTGACGTCAG GGAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCAAGGGCGA CGTCAGGGTGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGC GGGTGACATCAGGAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	133	0.0075	364	c.438 others(381): Show c.438+8548_438+8549insTTCCTGATGTCACCCGCGCTGGGGTCTC TCCCTGACGTCGCCCTCGCTGGGGTCTCACCCTGACGTCGCCCTTGCTGG GGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCTCCCTGACGTCACCCT CGCTGGGGTCTCTCCCTGACGTCACCCTTGCTGGGGTCTCTCCCTGACGT CGCCCTCGCTGGGGTCTCTCCCTGACGTCACCCTCGCTGGGGTCTCTCCC TGACGTCACCCTCGCTGGGGTCTCTCCCTGACGTCACCCTCGCCGGGGTC TCTCCCTGACGTCACCCTTGCTGGGGTCTCACCCTGACGTAGCCCTCGCT GGGGTCTCACCCTGAAGTCACCCTCGCTGGGGTCTC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	314723	C C	CTGACCTG others(357): Show CTGACCTGTAGTCCCTGTGCCCCACCTCCATTGACCTGTAGTCTCTGTGC CCCACCTCCATTGACCTGTAGTCTCTGTGCTCCACCTCCACTGACCTGTA GTCCCTGTGCCCCACCTCCATTGACCTGCAGTCTCTGTACTCCACGTCCA TTGACCTGTAGTCCCTGTGACTTCACCTCCATTGACCTGTAGTCCCTGTG CTCCACCTCCATTGACCTGTAGTCTCTGTGACCCCAACTCCATTGACCTG TAGTCCCTGTGACCCCACCTCCATTGACCTGTAGTCCCTGTGACCCCACC TCCATTGACCTGTAGTCCCTGTACTCCACGTCCATTGACCTGTAGTCTCT GTGCTCCACCTCCAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02895.hp2 HG02976.hp2 others(2): Show HG02559.hp2 HG02895.hp2 HG02976.hp2 HG03453.hp2 HG03516.hp2	a0001 a0007 a0001 a0007	a0001c0002 a0001c0003 a0007c0014 a0001c0002 a0001c0003 a0007c0014	a0001c0002t0006 a0001c0002t0029 a0001c0003t0001 others(2): Show a0001c0002t0006 a0001c0002t0029 a0001c0003t0001 a0001c0003t0030 a0007c0014t0018	a0001c0002t0006g0060 a0001c0002t0029g0103 a0001c0003t0001g0068 others(2): Show a0001c0002t0006g0060 a0001c0002t0029g0103 a0001c0003t0001g0068 a0001c0003t0030g0122 a0007c0014t0018g0102	5	133	0.0376	364	c.351 others(381): Show c.351+4696_351+4697insATGGAGGTGGAGCACAGAGACTACAGGT CAATGGACGTGGAGTACAGGGACTACAGGTCAATGGAGGTGGGGTCACAG GGACTACAGGTCAATGGAGGTGGGGTCACAGGGACTACAGGTCAATGGAG TTGGGGTCACAGAGACTACAGGTCAATGGAGGTGGAGCACAGGGACTACA GGTCAATGGAGGTGAAGTCACAGGGACTACAGGTCAATGGACGTGGAGTA CAGAGACTGCAGGTCAATGGAGGTGGGGCACAGGGACTACAGGTCAGTGG AGGTGGAGCACAGAGACTACAGGTCAATGGAGGTGGGGCACAGAGACTAC AGGTCAATGGAGGTGGGGCACAGGGACTACAGGTCA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RSRC1_chr3_158105089_158550730	158228874	A A	AACACACA others(357): Show AACACACATACGTGTATATATGTATATAAACACACATACGTGTATATGTT TATATAAACACACATACGTGTATATGTGTATATAAACACACATACGTGTA TATGTGTATATAAACACACATACGTGTATATGTGTATATAAACACATACG TGTATATGTGTATATAAACACACATACGTGTATATGTGTATATAAACACA CATACGTGTATATGTGTATATAAACACACATACGTGTATATGTGTATATA AACACACATACGTGTATATGTGTATATAAACACACATACGTGTATATGTG TATATAAACACACATACGTGTATATGTGTATATAAACACACATACGTGTA TATGTGTATATAAAC	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	276	0.0036	364	c.494 others(383): Show c.494+25634_494+25635insCATACGTGTATATATGTATATAAACA CACATACGTGTATATGTTTATATAAACACACATACGTGTATATGTGTATA TAAACACACATACGTGTATATGTGTATATAAACACACATACGTGTATATG TGTATATAAACACATACGTGTATATGTGTATATAAACACACATACGTGTA TATGTGTATATAAACACACATACGTGTATATGTGTATATAAACACACATA CGTGTATATGTGTATATAAACACACATACGTGTATATGTGTATATAAACA CACATACGTGTATATGTGTATATAAACACACATACGTGTATATGTGTATA TAAACACACATACGTGTATATGTGTATATAAACACACA	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158228874	A A	AACACACA others(357): Show AACACACATACGTGTATATATGTATATAAACACACATACGTGTATATGTT TATATAAACACACATACGTGTATATGTGTATATAAACACACATACGTGTA TATGTGTATATAAACACATACGTGTATATGTGTATATAAACACACATACG TGTATATGTGTATATAAACACACATACGTGTATATGTGTATATAAACACA CATACGTGTATATGTGTATATAAACACACATACGTGTATATGTGTATATA AACACACATACGTGTATATGTGTATATAAACACACATACGTGTATATGTG TATATAAACACACATACGTGTATATGTGTATATAAACACACATACGTGTA TATGTGTATATAAAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01884.hp2 HG02145.hp2 others(10): Show HG00408.hp1 HG01884.hp2 HG02145.hp2 HG03209.hp1 HG04184.hp1 NA18952.hp2 NA18968.hp2 NA18969.hp2 NA18983.hp1 NA19057.hp1 NA19062.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0016	a0001c0001t0001g0052 a0001c0001t0001g0064 a0001c0001t0001g0065 others(10): Show a0001c0001t0001g0052 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0076 a0001c0001t0001g0092 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0201 a0001c0001t0001g0221 a0001c0001t0001g0228 a0001c0001t0002g0082 a0001c0001t0006g0021 a0001c0001t0016g0070	13	276	0.0471	364	c.494 others(383): Show c.494+25634_494+25635insCATACGTGTATATATGTATATAAACA CACATACGTGTATATGTTTATATAAACACACATACGTGTATATGTGTATA TAAACACACATACGTGTATATGTGTATATAAACACATACGTGTATATGTG TATATAAACACACATACGTGTATATGTGTATATAAACACACATACGTGTA TATGTGTATATAAACACACATACGTGTATATGTGTATATAAACACACATA CGTGTATATGTGTATATAAACACACATACGTGTATATGTGTATATAAACA CACATACGTGTATATGTGTATATAAACACACATACGTGTATATGTGTATA TAAACACACATACGTGTATATGTGTATATAAACACACA	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RTN4IP1_chr6_106565771_106634498	106589237	G G	GGAGGAGG others(357): Show GGAGGAGGAGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGAGGAGGAGGG AGGGGGAGGGAGGAGGAGGGAGGGGGAGGGAGGAGGAGGGAGGGGGAGGG AGGAGGAGGGAGGGGGAGGAGGGAGGGAGGGGGAGGGAGGGAGGAGGAGG GAGGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGAA GGGGGAGAAGAAGGAGAAGAAGGAGAAGAGGAAGAGGAAGAAGAGGAAGA GGAAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAG GAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGAA GAAGGAGGAGGAGAA	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	396	0.0025	364	c.807 others(381): Show c.807-1376_807-1375insTTCTCCTCCTCCTTCTTCTCCTCCTCCT TCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCC TCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTTCCTCTTCCTCTTCTT CCTCTTCCTCTTCTCCTTCTTCTCCTTCTTCTCCCCCTTCTCCCCCTCCC TCCTCCCCCTCCCTCCTCCCCCTCCCTCCTCCCCCTCCCTCCTCCTCCCT CCCTCCCCCTCCCTCCCTCCTCCCCCTCCCTCCTCCTCCCTCCCCCTCCC TCCTCCTCCCTCCCCCTCCCTCCTCCTCCCTCCCCCTCCCTCCTCCTCCC TCCCCCTCCCCTCCCCCTCCCTCCTCCCTCCTCCTC	RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding	6/8			chr6	TogoVar
SAMD11_chr1_918923_949574	934209	A A	AGGCGGCT others(357): Show AGGCGGCTGCGTTACTGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGG CGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACA GGTGGGCGGGGGGGGCGGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGC GTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGC GGCTCCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCGGG GGAGGCGGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTG GGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTA CAGGTGGGCGGGGGG	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0007 a0007	a0007c0024 a0007c0024	a0007c0024t0003 a0007c0024t0003	a0007c0024t0003g0207 a0007c0024t0003g0207	1	434	0.0023	364	c.843 others(381): Show c.843-1556_843-1555insGCGTTACTGGTGGGCGGGGGAGGCGGCT GCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAG GCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTCCGTTACAGGTGGGCG GGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGG TGGGCGGGGGGGGCGGCTCCGTTACAGGTGGGCAGGGGAGGCGGCTGCGT TACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGGGGCGG CTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGG GGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCT	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934213	G G	GGCTGCGT others(357): Show GGCTGCGTTACTGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGG GGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTCCGTTACAGGTG GGCGGGGGGGGCGGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTA CAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCT GCGTTACAGGTGGGCGGGGGGGGCGGCTCCGTTACAGGTGGGCGGGGGGG GCGGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCG GGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGG TGGGCGGGGGAGGCT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG04204.hp2 HG00738.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0003g0162 a0001c0001t0003g0163	2	434	0.0046	364	c.843 others(381): Show c.843-1556_843-1555insGCGTTACTGGTGGGCGGGGGAGGCGGCT GCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGG GCGGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTCCGTTACAGGTGGGCG GGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGG TGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTCCGT TACAGGTGGGCGGGGGGGGCGGCTCCGTTACAGGTGGGCGGGGGGGGCGG CTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGG AGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCTGCT	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SATL1_chrX_85087284_85248779	85088046	G G	GTATTTAT others(357): Show GTATTTATACATATATGTATAAATACGTATTAATACATATATGTATAAAT ACGTATTAATACATATATGTATAAATACATACATATTTATACATATATGT ATACATACATATTTATACATATATATGTATAAATACATACATATTTATAC ATATATATGTATAAATACGTACATATTTATACATATATATGTATAAATAC GTACATATTTATACATATATATGTATAAATACGTACATATTTATACATAT ATATGTATAAATACGTACATATTTATACATATATATGTATAAATACGTAC ATATTTATACATATATGTATAAATACATATACATATTTATACATATATGT ATAAATACATATACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0229 a0002c0002t0001g0229	1	232	0.0043	364	c.43 others(375): Show c.4344_*4345insTGTATATGTATTTATACATATATGTATAAATATG TATATGTATTTATACATATATGTATAAATATGTACGTATTTATACATATA TATGTATAAATATGTACGTATTTATACATATATATGTATAAATATGTACG TATTTATACATATATATGTATAAATATGTACGTATTTATACATATATATG TATAAATATGTACGTATTTATACATATATATGTATAAATATGTATGTATT TATACATATATATGTATAAATATGTATGTATACATATATGTATAAATATG TATGTATTTATACATATATGTATTAATACGTATTTATACATATATGTATT AATACGTATTTATACATATATGTATAAATA	SATL1	ENSG00000184788.14	transcript	ENST00000644105.2	protein_coding		4237		chrX	TogoVar
SBF2_chr11_9773668_10299219	10249692	T T	TTTGGAAT others(357): Show TTTGGAATGCTATGGGGGAGTCCATAGCATTGGAATGCTATGGGGGAGTC CATAGCATTGGAATGCTATGGGGGAGTCCATAGCATTGGAATGCTATGGG GGAGTCCATAGCATTGGAATGCTATGGGGGAGTCCATAGCATTGGAATGC TATGGGGGAGTCCATAGCATTGGAATGCTATGGGGGAGTCCATAGCATTG GAATGCTATGGGGGAGTCCATAGCATTGGAATGCTATGGGGGAGTCCATA GCATTGGAATGCTATGGGGGAGTCCATAGCATTGGAATGCTATGGGGGAG TCCATAGCATTGGAATGCTATGGGGGAGTCCATAGCATTGGAATGCTATG GGGGAGTCCATAGCA	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0218 a0001c0001t0004g0218	1	224	0.0045	364	c.55+ others(381): Show c.55+44322_55+44323insTGCTATGGACTCCCCCATAGCATTCCAA TGCTATGGACTCCCCCATAGCATTCCAATGCTATGGACTCCCCCATAGCA TTCCAATGCTATGGACTCCCCCATAGCATTCCAATGCTATGGACTCCCCC ATAGCATTCCAATGCTATGGACTCCCCCATAGCATTCCAATGCTATGGAC TCCCCCATAGCATTCCAATGCTATGGACTCCCCCATAGCATTCCAATGCT ATGGACTCCCCCATAGCATTCCAATGCTATGGACTCCCCCATAGCATTCC AATGCTATGGACTCCCCCATAGCATTCCAATGCTATGGACTCCCCCATAG CATTCCAATGCTATGGACTCCCCCATAGCATTCCAA	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	1/39			chr11	TogoVar
SCIMP_chr17_5203920_5239860	5232350	A A	ATAAACAG others(357): Show ATAAACAGTGCAGTATAAACAGTGCAGTGTAAACAGTGCAGTATAAACAG TGCAGTGTAAACAGTGCAGTATAAACAGTGCAGTGTAAACAGTGCAGTAT AAACAGTGCAGTGTAAACAGTGCAGTATAAACAGTGCAGTGTAAACAGTG CAGTGTAAACAGTGCAGTGTAAACAGTGCAGTATAAACAGTGCAGTGTAA ACAGTGCAGTGTAAACAGTGCAGTATAAACAGTGCAGTGTAAACAGTGCA GTGTAAACAGTGCAGTGTAAACAGTGCAGTGTAAACAGTGCAGTATAAAC AGTGCAGTGTAAACAGTGCAGTATAAACAGTGCAGTGTAAACAGTGCAGT ATAAACAGTGCAGTG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	386	0.0026	364	c.21+ others(379): Show c.21+2384_21+2385insCACTGCACTGTTTATACTGCACTGTTTACA CTGCACTGTTTATACTGCACTGTTTACACTGCACTGTTTATACTGCACTG TTTACACTGCACTGTTTACACTGCACTGTTTACACTGCACTGTTTACACT GCACTGTTTATACTGCACTGTTTACACTGCACTGTTTACACTGCACTGTT TATACTGCACTGTTTACACTGCACTGTTTACACTGCACTGTTTACACTGC ACTGTTTATACTGCACTGTTTACACTGCACTGTTTATACTGCACTGTTTA CACTGCACTGTTTATACTGCACTGTTTACACTGCACTGTTTATACTGCAC TGTTTACACTGCACTGTTTATACTGCACTGTTTA	SCIMP	ENSG00000161929.15	transcript	ENST00000574081.6	protein_coding	1/4			chr17	TogoVar
SCIMP_chr17_5203920_5239860	5232378	A A	ATAAACAG others(357): Show ATAAACAGTGCAGTGTAAACAGTGCAGTATAAACAGTGCAGTATAAACAG TGCAGTGTAAACAGTGCAGTATAAACAGTGCAGTGTAAACAGTGCAGTAT AAACAGTGCAGTGTAAACAGTGCAGTATAAACAGTGCAGTGTAAACAGTG CAGTATAAACAGTGCAGTATAAACAGTGCAGTGTAAACAGTGCAGTATAA ACAGTGCAGTGTAAACAGTGCAGTATAAACAGTGCAGTGTAAACAGTGCA GTGTAAACAGTGCAGTATAAACAGTGCAGTGTAAACAGTGCAGTATAAAC AGTGCAGTGTAAACAGTGCAGTATAAACAGTGCAGTGTAAACAGTGCAGT ATAAACAGTGCAGTG	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	386	0.0026	364	c.21+ others(379): Show c.21+2356_21+2357insCACTGCACTGTTTATACTGCACTGTTTACA CTGCACTGTTTATACTGCACTGTTTACACTGCACTGTTTATACTGCACTG TTTACACTGCACTGTTTATACTGCACTGTTTACACTGCACTGTTTACACT GCACTGTTTATACTGCACTGTTTACACTGCACTGTTTATACTGCACTGTT TACACTGCACTGTTTATACTGCACTGTTTATACTGCACTGTTTACACTGC ACTGTTTATACTGCACTGTTTACACTGCACTGTTTATACTGCACTGTTTA CACTGCACTGTTTATACTGCACTGTTTACACTGCACTGTTTATACTGCAC TGTTTATACTGCACTGTTTACACTGCACTGTTTA	SCIMP	ENSG00000161929.15	transcript	ENST00000574081.6	protein_coding	1/4			chr17	TogoVar
SCNN1D_chr1_1275436_1297025	1288275	C C	CCGTGTCT others(357): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC CCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCC GTGTCCCTGCTCCGT	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0109 a0002c0002t0001g0109	1	290	0.0035	364	c.166 others(381): Show c.1662+239_1662+240insGTGTCTCTGCTCCGTCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGTGT CTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289727	C C	CCGTGTCT others(357): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCC CGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGT CTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCC GTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCCCT GCTCCGTCCCCCGTGTCCCTGCTCTGTCCCCCGTGTCCCTGCTCCGTCCC GTGTCTCTGCCCCGT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	290	0.0035	364	c.166 others(381): Show c.1663-543_1663-542insGTGTCTCTGCTCCGTCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCT CTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGT GTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTC CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCT GCCCCGTCCCCCGTGTCCCTGCTCCGTCCCCCGTGTCCCTGCTCTGTCCC CCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGCZ_chr8_14079845_15243431	14273029	T T	TAATAACA others(357): Show TAATAACAACTAAGAAATTGGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0083 a0001c0001t0083	a0001c0001t0083g0057 a0001c0001t0083g0057	1	102	0.0098	364	c.337 others(383): Show c.337-35351_337-35350insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCCAATTTCTTAGTTGTTATT	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	3/7			chr8	TogoVar
SIGIRR_chr11_400716_419999	401878	G G	GGCCCCGC others(357): Show GGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGGCC CCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCT CACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCAC ACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCACACC CGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGC CCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCG CTCACACCCGCCCCGCTCACCCCCAGCCCCGCTCACACCCGCCCCGCTCA CCCCCGGCCCCGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	242	0.0041	364	c.40 others(375): Show c.4017_*4018insGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAG CGGGGCTGGGGGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGTGTGAGCGG GGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCG GGTGTGAGCGGGGCCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGT GTGAGCGGGGCCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCGGGTGTGA GCGGGGCCGGGGGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCG GGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGC GGGTGTGAGCGGGGCGGGTGTGAGCGGGGC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3837		chr11	TogoVar
SLC17A5_chr6_73588379_73658992	73632008	T T	TAAGAATG others(357): Show TAAGAATGCAGTCTGGTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGA CCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA AAAATTAGCCGGGCGCGGTGGCGGGCGCTTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAG CCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03688.hp2 NA18993.hp2 HG03688.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0051 a0001c0001t0004g0057 a0001c0001t0004g0051 a0001c0001t0004g0057	2	324	0.0062	364	c.819 others(381): Show c.819+3373_819+3374insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCT CCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAAGCGCCCGCCACCGCGCCCGGCTAATTTTTTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCAACCAGACTGCATTCTT	SLC17A5	ENSG00000119899.13	transcript	ENST00000355773.6	protein_coding	6/10			chr6	TogoVar
SLC22A23_chr6_3263973_3462050	3356090	C C	CGGGGGGG others(357): Show CGGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGCGGCAGGGGGGAGGCGGG GGGGCGGGAGGGGAGGAGGCGGGGGGGGCGGGAGGGGGAGGAGGCGGGGG GGCGGGAGGGGGAGGAGTCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGCG GGAGGGGGCCGGAGGGGGAGGAGGCGGGGGGGGCGGGGGGGCGGGAGGGG CGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGCGGG AGGGGGAGGGGGGCGGGAGGGGAAGGAGGCGGGGGGGGCGGGGGGGGAGG GAGGGGAAGGAGGCGGGGGGGGGCGGGAGGGGGAGGACGCGGGGGGGGCG GGGGGGGGCGGGAGG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0022 a0001c0001t0030g0022	1	222	0.0045	364	c.914 others(383): Show c.914-32089_914-32088insCCTCCCGCCCCCCCCCGCCCCCCCCG CGTCCTCCCCCTCCCGCCCCCCCCCGCCTCCTTCCCCTCCCTCCCCCCCC GCCCCCCCCGCCTCCTTCCCCTCCCGCCCCCCTCCCCCTCCCGCCCCCCC GCCTCCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTCCCGCCCCTCCCGCC CCCCCGCCCCCCCCGCCTCCTCCCCCTCCGGCCCCCTCCCGCCCCCCCGC CTCCCCCCTCCCGCCCCCCCGACTCCTCCCCCTCCCGCCCCCCCGCCTCC TCCCCCTCCCGCCCCCCCCGCCTCCTCCCCTCCCGCCCCCCCGCCTCCCC CCTGCCGCCCCCCGCCTCCTCCCCCTCCCGCCCCCCCC	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	3/9			chr6	TogoVar
SLC35F1_chr6_117902264_118322671	117923611	A A	ATATGTAC others(357): Show ATATGTACATATGTACATATATACATATGTATATATGCATATATGTACAT ATGTACATATATACATATGTATATATGCATATATGTACATATGTACATAT GTACATATGTATATATGCATATATGTACATATGTACATATGTACATATGT ATATATGCATATATGTACATATGTACATATGTACATATGTATATATGCAT ATATGTACATATGTACATATGTACATATGTATATATGCATATATGTACAT ATGTACATATGTACATATGTACATATGCATATATGTACATATGTACATAT GTACATATGTACATATGCATATATGTACATATGTACATATGCATATATGT ACATATGTACATATG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0113 a0001c0001t0012g0113	1	182	0.0055	364	c.173 others(383): Show c.173+15714_173+15715insTGTACATATGTACATATATACATATG TATATATGCATATATGTACATATGTACATATATACATATGTATATATGCA TATATGTACATATGTACATATGTACATATGTATATATGCATATATGTACA TATGTACATATGTACATATGTATATATGCATATATGTACATATGTACATA TGTACATATGTATATATGCATATATGTACATATGTACATATGTACATATG TATATATGCATATATGTACATATGTACATATGTACATATGTACATATGCA TATATGTACATATGTACATATGTACATATGTACATATGCATATATGTACA TATGTACATATGCATATATGTACATATGTACATATGTA	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC35F3_chr1_233899676_234329511	234248309	C C	CCATTGTT others(357): Show CCATTGTTTGGTGGGTTGGTTGGTTGATCCATTGCTTGGTGGGTTGGTTG GTTGGTCCATTGCTTGGTGGATTGCTTGGCTGGTCCATTGTTCAGTAGGT TGGTTGACTGGTTCGTTGTTCGGTGGGTTGATTGGCTGGTCCATTGTTTG GTGGGTTGAATGGCTGGTCTGTTGTTCAGTAGGTTGGTTGGCTGGTCCAT TGTTTGGGGGGCTGGTTGGCTGGTCAGTTGTTCTGTGGGTCGGTTGGCTG GTGCATTGTTCGGTGGGTTGGTTGGCTGGTCCATTGTTTGATGGGTCAGT TGGCTGGTGCATCATTTGGTGGGTTGGTTGGCTGGTCCATTGTTTGATGG GTCAGTTGGCTGGTG	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	158	0.0063	364	c.608 others(383): Show c.608+16590_608+16591insTTGATCCATTGCTTGGTGGGTTGGTT GGTTGGTCCATTGCTTGGTGGATTGCTTGGCTGGTCCATTGTTCAGTAGG TTGGTTGACTGGTTCGTTGTTCGGTGGGTTGATTGGCTGGTCCATTGTTT GGTGGGTTGAATGGCTGGTCTGTTGTTCAGTAGGTTGGTTGGCTGGTCCA TTGTTTGGGGGGCTGGTTGGCTGGTCAGTTGTTCTGTGGGTCGGTTGGCT GGTGCATTGTTCGGTGGGTTGGTTGGCTGGTCCATTGTTTGATGGGTCAG TTGGCTGGTGCATCATTTGGTGGGTTGGTTGGCTGGTCCATTGTTTGATG GGTCAGTTGGCTGGTGCATTGTTTGGTGGGTTGGTTGG	SLC35F3	ENSG00000183780.13	transcript	ENST00000366618.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC35F3_chr1_233899676_234329511	234248309	C C	CCATTGTT others(357): Show CCATTGTTTGGTGGGTTGGTTGGTTGGTCCATTGCTTGGTGGGTTGGTTG GTTGGTCCATTGCTTGGTGGATTGCTTGGCTGGTCCATTGTTCAGTAGGT TGGTTGACTGGTTCGTTGTTCGGTGGGTTGATTGGCTGGTCCATTGTTTG GTGGGTTGAATGGCTGGTCTGTTGTTCAGTAGGTTGGTTGGCTGGTCCAT TGTTTGGGGGGCTGGTTGGCTGGTCAGTTGTTCTGTGGGTCGGTTGGCTG GTGCATTGTTCAGTGGGTTGGTTGGCTGGTCCATTGTTTGATGGGTCAGT TGGCTGGTGCATCGTTTGGTGGGTTGGTTGGCTCGTCCATTGTTTGATGG GTCAGTTGGCTGGTG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG00642.hp1 others(13): Show HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00741.hp2 HG01081.hp1 HG01192.hp2 HG01258.hp2 HG01361.hp1 HG01516.hp2 HG01993.hp1 HG02074.hp1 HG02602.hp2 HG03453.hp2 NA19065.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0002t0004 a0001c0002t0016 a0001c0003t0002	a0001c0001t0001g0055 a0001c0001t0001g0060 a0001c0001t0001g0071 others(13): Show a0001c0001t0001g0055 a0001c0001t0001g0060 a0001c0001t0001g0071 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0103 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0156 a0001c0001t0003g0108 a0001c0002t0002g0009 a0001c0002t0002g0123 a0001c0002t0002g0152 a0001c0002t0004g0011 a0001c0002t0016g0148 a0001c0003t0002g0007	16	158	0.1013	364	c.608 others(383): Show c.608+16590_608+16591insTTGGTCCATTGCTTGGTGGGTTGGTT GGTTGGTCCATTGCTTGGTGGATTGCTTGGCTGGTCCATTGTTCAGTAGG TTGGTTGACTGGTTCGTTGTTCGGTGGGTTGATTGGCTGGTCCATTGTTT GGTGGGTTGAATGGCTGGTCTGTTGTTCAGTAGGTTGGTTGGCTGGTCCA TTGTTTGGGGGGCTGGTTGGCTGGTCAGTTGTTCTGTGGGTCGGTTGGCT GGTGCATTGTTCAGTGGGTTGGTTGGCTGGTCCATTGTTTGATGGGTCAG TTGGCTGGTGCATCGTTTGGTGGGTTGGTTGGCTCGTCCATTGTTTGATG GGTCAGTTGGCTGGTGCATTGTTTGGTGGGTTGGTTGG	SLC35F3	ENSG00000183780.13	transcript	ENST00000366618.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC6A12_chr12_185081_219157	197162	C C	CATCCATC others(357): Show CATCCATCTATCCATCCATCTATCCATCCATCTATCCATCCATCCATCCA TCCATCCATCTATCCATCCATCTATCCATCCATCCATCCATCCATCCATC CATCCATCCATCTATCCATCCATCTATCCATCCATCTATCCATCCATCCA TCCATCCATCTACCCATCCATCCATCCATCCATCCATCTATCCATCCATC CATCCATCCATCCATCTATCCATCTATCCATCCATCCATCCATCCATCCA TCCATCCATCTATCCATCCATCTATCCATCCATCTATCCATCCATCCATC CATCCATCTATCCATCCATCCATCCATCCATCCATCTATCCATCTATCCA TCCATCCATCCATCT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0357 a0002c0002t0001g0357	1	420	0.0024	364	c.107 others(381): Show c.1075+214_1075+215insAGATGGATGGATGGATGGATAGATGGAT AGATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGATGGATGG ATAGATGGATGGATAGATGGATGGATAGATGGATGGATGGATGGATGGAT GGATGGATGGATAGATGGATAGATGGATGGATGGATGGATGGATGGATAG ATGGATGGATGGATGGATGGATGGGTAGATGGATGGATGGATGGATGGAT AGATGGATGGATAGATGGATGGATAGATGGATGGATGGATGGATGGATGG ATGGATGGATGGATAGATGGATGGATAGATGGATGGATGGATGGATGGAT GGATAGATGGATGGATAGATGGATGGATAGATGGAT	SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding	10/15			chr12	TogoVar
SLC9A3_chr5_465456_529449	487546	C C	CGTGATCC others(357): Show CGTGATCCAGACCGCACTGACACCCACCACACTGACACCCACCACACTGA CACCCACCGCACTGACACCGTGATCCCGACCGCACTGACACCCACCGCAC TGACACCGTGATCCCGACTGCACTGACACCCACCGCACTGACACCGTGAT CCAGACCGCACTGACACCCACCACACTGACACCCACCGCACTGACACCCA CCGCACTGACACCGTGATCCAGACCGCACTGACACCCACCGCACTGACAC CGTGATCCAGACCGCACTGACACCCACCGCACTGACACCGTGATCCAGAC TGCACTGACACCCACCACACTGACACCCACCGCACTGACACCCACCACAC TGACACCGTGATCCA	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0010 a0010	a0010c0015 a0010c0015	a0010c0015t0007 a0010c0015t0007	a0010c0015t0007g0004 a0010c0015t0007g0004	1	218	0.0046	364	c.675 others(379): Show c.675+769_675+770insTGGATCACGGTGTCAGTGTGGTGGGTGTCA GTGCGGTGGGTGTCAGTGTGGTGGGTGTCAGTGCAGTCTGGATCACGGTG TCAGTGCGGTGGGTGTCAGTGCGGTCTGGATCACGGTGTCAGTGCGGTGG GTGTCAGTGCGGTCTGGATCACGGTGTCAGTGCGGTGGGTGTCAGTGCGG TGGGTGTCAGTGTGGTGGGTGTCAGTGCGGTCTGGATCACGGTGTCAGTG CGGTGGGTGTCAGTGCAGTCGGGATCACGGTGTCAGTGCGGTGGGTGTCA GTGCGGTCGGGATCACGGTGTCAGTGCGGTGGGTGTCAGTGTGGTGGGTG TCAGTGTGGTGGGTGTCAGTGCGGTCTGGATCAC	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	3/16			chr5	TogoVar
SMOC2_chr6_168436184_168672992	168560936	A A	ATTCTTGG others(357): Show ATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACT GTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCA CTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCT CACTGTGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCT CTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACAAGG CTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACAA GGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACAC GAGGCTCTCACTGCG	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0031 a0001c0002t0002g0031	1	180	0.0056	364	c.637 others(383): Show c.637+11756_637+11757insCTGCCCTGAGACACGAGGCTCTCACT GTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCA CTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCT CACTGTGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCT CTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACAAGG CTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACAA GGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACAC GAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561129	C C	CGAGGCTC others(357): Show CGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGA CACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGA GACACAAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCT GAGACACAAGGCTCTCACTGCGTTCTCGGAGGAGGTGTCATTTTCCTGCC CTGAGATGTGAGGCTCTCACTGCGTTCTCGGAGGAGGTGTCATTTTCCTG CCCTGAGACACAAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCC TGCCCTGAGACACAAGGCTCTCACTGCGTTCTCGGAGGAGGTGTCATTTT CCTGCCCTGAGATGT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	180	0.0056	364	c.637 others(383): Show c.637+11939_637+11940insTGTTCTCGGAGGAGGTGTCATTTTCC TGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTT CCTGCCCTGAGACACAAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATT TTCCTGCCCTGAGACACAAGGCTCTCACTGCGTTCTCGGAGGAGGTGTCA TTTTCCTGCCCTGAGATGTGAGGCTCTCACTGCGTTCTCGGAGGAGGTGT CATTTTCCTGCCCTGAGACACAAGGCTCTCACTGCATTCTTGGAGGAGGT GTCATTTTCCTGCCCTGAGACACAAGGCTCTCACTGCGTTCTCGGAGGAG GTGTCATTTTCCTGCCCTGAGATGTGAGGCTCTCACTG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar

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