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
IFNAR1_chr21_33319970_33364864	33322899	A A	AATATATA others(372): Show AATATATACGGAATATATATACGGAATGTATATACGGAATATATATACGG AATGTATATATATGGAATATATATACGGAATGTATATACGGAATATATAT ATATGGAATATATATACGGAATATATATATATGGAATATATATACGGAAT ATATATATATGGAATATATATACGGAATATATATATATGGAACATATATA TACGGAATATATACATATGGAACATATATATATGGAATATATACATATGG AACATATATATGGAATATATACATATGGAACATATATATGGAATATATAC ATATGGAACATATATATGGAATATATATATATGGAATATATATATGGAAT ATATATATATGGAATATATATATATGGAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0125 a0003c0003t0004g0125	1	317	0.0032	379	c.-21 others(390): Show c.-2157_-2156insATATATACGGAATATATATACGGAATGTATATAC GGAATATATATACGGAATGTATATATATGGAATATATATACGGAATGTAT ATACGGAATATATATATATGGAATATATATACGGAATATATATATATGGA ATATATATACGGAATATATATATATGGAATATATATACGGAATATATATA TATGGAACATATATATACGGAATATATACATATGGAACATATATATATGG AATATATACATATGGAACATATATATGGAATATATACATATGGAACATAT ATATGGAATATATACATATGGAACATATATATGGAATATATATATATGGA ATATATATATGGAATATATATATATGGAATATATATATATGGAAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2070		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33323520	G G	GTGGAATA others(372): Show GTGGAATATATATATGTGGAATATATATATGTGGAATATATATATGTGGA ATATATATATGTGGAATATATATGTGGAATATATATGTGGAATATATATG TGGAATATATATGTGGAATATATATATATGGAATATATATGTGGAATATA TATATATGGAATATATATGTGGAATATATATATATGGAATATATATGTGG AATATATATATATGGAATATATATGTGGAATATATATATATGGAATATAT ATGTGGAATATATATATATGGAATATATATGTGGAATATATATATGGAAT ATATATATATGGAATATATATGTGGAATATATATATATGGAATATATATG TGGAATATATATATATGGAATATATGTGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp1 HG03834.hp2 HG04115.hp2 HG02602.hp1 HG03834.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0021 a0001c0001t0005 a0001c0001t0021	a0001c0001t0005g0018 a0001c0001t0005g0114 a0001c0001t0021g0142 a0001c0001t0005g0018 a0001c0001t0005g0114 a0001c0001t0021g0142	3	315	0.0095	379	c.-15 others(390): Show c.-1536_-1535insTGGAATATATATATGTGGAATATATATATGTGGA ATATATATATGTGGAATATATATATGTGGAATATATATGTGGAATATATA TGTGGAATATATATGTGGAATATATATGTGGAATATATATATATGGAATA TATATGTGGAATATATATATATGGAATATATATGTGGAATATATATATAT GGAATATATATGTGGAATATATATATATGGAATATATATGTGGAATATAT ATATATGGAATATATATGTGGAATATATATATATGGAATATATATGTGGA ATATATATATGGAATATATATATATGGAATATATATGTGGAATATATATA TATGGAATATATATGTGGAATATATATATATGGAATATATGTGGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1449		chr21	TogoVar
INO80_chr15_40973880_41121280	41031545	A A	AGGAAGGG others(372): Show AGGAAGGGAGGAGGGAGGAAGGGAGGGAGGGAGGAGGGAGGAAGGGAGGA AGGGAGGAGGGAGGAAGGGAGGGAGGAAGGGAGAAAGGGAGGAAGGGAGG GAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGA GGGAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGGAAGGGAGGGAGGAAGG GAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAGGGAG GAAGGGAGGAAGGGAGGAGGGAGGAAGGGAGGAAGGGAGGAGGGAGGAAG GGAGGGAGGAAGGGAGAAAGGGAGGAAGGGAGGGAGGAAGGGAGGAAGGG AGGAAGGGAGGAAGGGAGGAAGGGAGGAAG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01358.hp2 HG02300.hp2 HG00323.hp1 HG01358.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0090 a0001c0001t0002g0106 a0001c0001t0002g0117 a0001c0001t0002g0090 a0001c0001t0002g0106 a0001c0001t0002g0117	3	156	0.0192	379	c.290 others(398): Show c.2908-3810_2908-3809insCTTCCTCCCTTCCTCCCTTCCTCCCT TCCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCTTTCTCCCTTCCTCC CTCCCTTCCTCCCTCCTCCCTTCCTCCCTTCCTCCCTCCTCCCTTCCTCC CTTCCTCCCTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTT CCTCCCTTCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTT CCTCCCTCCCTTCCTCCCTTTCTCCCTTCCTCCCTCCCTTCCTCCCTCCT CCCTTCCTCCCTTCCTCCCTCCTCCCTCCCTCCCTTCCTCCCTCCTCCCT TCC	INO80	ENSG00000128908.19	transcript	ENST00000648947.1	protein_coding	24/35			chr15	TogoVar
INO80_chr15_40973880_41121280	41031545	A A	AGGAAGGG others(372): Show AGGAAGGGAGGAGGGAGGAAGGGAGGGAGGGAGGAGGGAGGAAGGGAGGA AGGGAGGAGGGAGGAAGGGAGGGAGGAAGGGAGAAAGGGAGGAAGGGAGG GAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGA GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGG GAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAGGGAG GAAGGGAGGAAGGGAGGAGGGAGGAAGGGAGGAAGGGAGGAGGGAGGAAG GGAGGGAGGAAGGGAGAAAGGGAGGAAGGGAGGGAGGAAGGGAGGAAGGG AGGAAGGGAGGAAGGGAGGAAGGGAGGAAG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0058 a0001c0001t0003g0058	1	154	0.0065	379	c.290 others(398): Show c.2908-3810_2908-3809insCTTCCTCCCTTCCTCCCTTCCTCCCT TCCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCTTTCTCCCTTCCTCC CTCCCTTCCTCCCTCCTCCCTTCCTCCCTTCCTCCCTCCTCCCTTCCTCC CTTCCTCCCTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTT CCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTT CCTCCCTCCCTTCCTCCCTTTCTCCCTTCCTCCCTCCCTTCCTCCCTCCT CCCTTCCTCCCTTCCTCCCTCCTCCCTCCCTCCCTTCCTCCCTCCTCCCT TCC	INO80	ENSG00000128908.19	transcript	ENST00000648947.1	protein_coding	24/35			chr15	TogoVar
INO80_chr15_40973880_41121280	41031545	A A	AGGAAGGG others(372): Show AGGAAGGGAGGAGGGAGGAAGGGAGGGAGGGAGGAGGGAGGAAGGGAGGA AGGGAGGAGGGAGGAAGGGAGGGAGGAAGGGAGAAAGGGAGGAAGGGAGG GAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGGAGGGA GGGAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGAAGGGAGGAAGGGAGG GAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGA GGAGGGAGGAAGGGAGGAAGGGAGGAGGGAGGAAGGGAGGAAGGGAGGAG GGAGGAAGGGAGGGAGGAAGGGAGAAAGGGAGGAAGGGAGGGAGGAAGGG AGGAAGGGAGGAAGGGAGGAAGGGAGGAAG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02698.hp1 HG01192.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0159 a0001c0001t0005g0022 a0001c0001t0002g0159 a0001c0001t0005g0022	2	155	0.0129	379	c.290 others(398): Show c.2908-3810_2908-3809insCTTCCTCCCTTCCTCCCTTCCTCCCT TCCTCCCTTCCTCCCTCCCTTCCTCCCTTTCTCCCTTCCTCCCTCCCTTC CTCCCTCCTCCCTTCCTCCCTTCCTCCCTCCTCCCTTCCTCCCTTCCTCC CTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTT CCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTT CCTCCCTCCCTTCCTCCCTTTCTCCCTTCCTCCCTCCCTTCCTCCCTCCT CCCTTCCTCCCTTCCTCCCTCCTCCCTCCCTCCCTTCCTCCCTCCTCCCT TCC	INO80	ENSG00000128908.19	transcript	ENST00000648947.1	protein_coding	24/35			chr15	TogoVar
JPH2_chr20_44101590_44192188	44132792	A A	ACCCACCC others(372): Show ACCCACCCCCACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCAC CGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCACCGTCCCCCTCCA CACCTGCAGCTCTCACCCACCCCCACCGTCCCCCTCCACACCTGCAGCTC TCACCCACCCCCACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCC ACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCACCGTCCCCCTC CACACCTGCAGCTCTCACCCACCCCCACCGTCCCCCTCCACACCTGCAGC TCTCACCCACCCCCACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCC CCACCGTCCCCCTCCACACGTGTAGCTCTC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02129.hp1 HG02723.hp1 others(5): Show HG01069.hp2 HG02129.hp1 HG02723.hp1 HG03017.hp1 HG03225.hp2 HG06807.hp1 NA18943.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 others(1): Show a0001c0001 a0001c0004 a0002c0002 a0002c0020	a0001c0001t0001 a0001c0001t0096 a0001c0004t0019 others(3): Show a0001c0001t0001 a0001c0001t0096 a0001c0004t0019 a0001c0004t0072 a0002c0002t0053 a0002c0020t0091	a0001c0001t0001g0248 a0001c0001t0096g0241 a0001c0004t0019g0176 others(5): Show a0001c0001t0001g0248 a0001c0001t0096g0241 a0001c0004t0019g0176 a0001c0004t0019g0178 a0001c0004t0019g0179 a0001c0004t0072g0185 a0002c0002t0053g0029 a0002c0020t0091g0249	8	18	0.4444	379	c.117 others(400): Show c.1170-14170_1170-14169insGAGAGCTACACGTGTGGAGGGGGA CGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGTGG GTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGTGGGTGAGAGCTGCA GGTGTGGAGGGGGACGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGG GACGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGT GGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGTGGGTGAGAGCTG CAGGTGTGGAGGGGGACGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGG GGGACGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGG GTGGG	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
KLHDC4_chr16_87702812_87770986	87738668	T T	TCCACACA others(372): Show TCCACACACCAGCACCTCATCCATCCGCACACCAGCACCTCATCCACCCA CACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCACACACCAG CACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCACC TCATCCACCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCAT CCACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCACCCAC ACACCAGCACCTCATCCACACACCAGCACCTCATCCATCCACACACCAGC ACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCATCT CATCCATCCACACACCAGCACCTCATCCAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02886.hp2 NA18970.hp2 others(2): Show HG02055.hp1 HG02886.hp2 NA18970.hp2 NA19065.hp1 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0252 a0002c0002t0001g0275 a0002c0002t0001g0279 others(2): Show a0002c0002t0001g0252 a0002c0002t0001g0275 a0002c0002t0001g0279 a0002c0002t0002g0150 a0002c0002t0002g0162	5	327	0.0153	379	c.507 others(396): Show c.507-8025_507-8024insGTGGATGAGGTGCTGGTGTGTGGATGGA TGAGATGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAG GTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGAGGTGCTGGT GTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGT GGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGAT GAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGG TGCTGGTGTGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTG TGTGGGTGGATGAGGTGCTGGTGTGCGGATGGATGAGGTGCTGGTGTGTG G	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	5/11			chr16	TogoVar
KLHDC4_chr16_87702812_87770986	87739270	C C	CCACCCAC others(372): Show CCACCCACACACCAGCACCTCATCCACACACCAGCACCTCATCCATCCAC ACACCAGCACCTCATCCACCCACACACCAGCACCTCATCCACCCACACAC CAGCACCTCATCCACACACCAGCACCTCATCCATCCACACACCAGCACCT CATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCATCTCATC CATCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCACC CACACACCAGCACCTCATCCACCCACACACCAGCACCTCATCCATCCACA CACCAGCACCTCATCCATCCACACACCAGCATCCCATCCATCCACACACC AGCACCTCATCCATCCACACACCAGTATCT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0373 a0001c0001t0001g0373	1	378	0.0026	379	c.507 others(396): Show c.507-8627_507-8626insAGATACTGGTGTGTGGATGGATGAGGTG CTGGTGTGTGGATGGATGGGATGCTGGTGTGTGGATGGATGAGGTGCTGG TGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTG TGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGA TGGATGAGATGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGA TGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGAGGTGC TGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGT GTGTGGATGGATGAGGTGCTGGTGTGTGGATGAGGTGCTGGTGTGTGGGT G	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	5/11			chr16	TogoVar
LAMA5_chr20_62304065_62372312	62349741	T T	TGGTGGGG others(372): Show TGGTGGGGGTGGGGGTGGTGATGGTGGGGGTGGGGGTGATGATGGTGATG GTGGGGGTGATGACGGTGGGGCTGGGGGTGATGATGGTGGGGGTGATGAC GGTGATGATGGGGGTGGAGGGGTGATGACGGTGATGATGGGGGTGGGGGG GTGATGACGGTGATGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACG GTGATGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGT GGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGA TGATGGTGATGGTGGGGGTGATGATGGTGGGGGTGGGGGTGATGATGGTG AGGGTGATGATGGTGGGGGTAATGACGGTG	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02004.hp1 HG03491.hp1 others(1): Show HG01346.hp1 HG02004.hp1 HG03491.hp1 HG03669.hp2	a0001 a0043 a0080 a0001 a0043 a0080	a0001c0016 a0001c0102 a0043c0086 others(1): Show a0001c0016 a0001c0102 a0043c0086 a0080c0089	a0001c0016t0001 a0001c0102t0001 a0043c0086t0001 others(1): Show a0001c0016t0001 a0001c0102t0001 a0043c0086t0001 a0080c0089t0001	a0001c0016t0001g0168 a0001c0102t0001g0133 a0043c0086t0001g0128 others(1): Show a0001c0016t0001g0168 a0001c0102t0001g0133 a0043c0086t0001g0128 a0080c0089t0001g0100	4	34	0.1176	379	c.956 others(396): Show c.956+1962_956+1963insCACCGTCATTACCCCCACCATCATCACC CTCACCATCATCACCCCCACCCCCACCATCATCACCCCCACCATCACCAT CATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCC CCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCATC ACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACATCACCGTCATC ACCCCCCCACCCCCATCATCACCGTCATCACCCCTCCACCCCCATCATCA CCGTCATCACCCCCACCATCATCACCCCCAGCCCCACCGTCATCACCCCC ACCATCACCATCATCACCCCCACCCCCACCATCACCACCCCCACCCCCAC C	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	6/79			chr20	TogoVar
LRRC23_chr12_6899822_6919229	6909274	T T	TATATATA others(372): Show TATATATAATTAGATATAATATATAATTATATATTATATATAATTATATA TAATATATATATATTATATATATAATAATATATATACAATATATAATTAT ATATTATATAATTATATATAATATATAATTATATATTATATATAATATAT AATTATATATTATATAATAATATATAATCATATATTATATATAATATATA ATTATATATTATATAATAATATATAATTATTAATATATAATTATATATAA TATATAATTATATATTATATAATAATATATAATTATATATTATATATAAT TATATATTATATAATAACATATAATTATATATAATATATAAATATATAAT ATATAAATATATAATATATAAATATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01123.hp2 NA20752.hp2 HG00735.hp2 HG01123.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0002 a0001c0001t0001g0006	3	59	0.0508	379	c.622 others(394): Show c.622-605_622-604insGATATAATATATAATTATATATTATATATA ATTATATATAATATATATATATTATATATATAATAATATATATACAATAT ATAATTATATATTATATAATTATATATAATATATAATTATATATTATATA TAATATATAATTATATATTATATAATAATATATAATCATATATTATATAT AATATATAATTATATATTATATAATAATATATAATTATTAATATATAATT ATATATAATATATAATTATATATTATATAATAATATATAATTATATATTA TATATAATTATATATTATATAATAACATATAATTATATATAATATATAAA TATATAATATATAAATATATAATATATAAATATATATAATATATAATTA	LRRC23	ENSG00000010626.15	transcript	ENST00000443597.7	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
LRRC23_chr12_6899822_6919229	6909274	T T	TATATATA others(372): Show TATATATAATTATATATAATATATAATTATATATTATATCTAATTATATA TAATATATATATATTATATATATAATAATATATATACAATATATAATTAT ATATTATATAATTATATATAATATATAATTATATATTATATATAATATAT AATTATATATTATATAATAATATATAATCATATATTATATATAATATATA ATTATATATTATATAATAATATATAATTATTAATATATAATTATATATAA TATATAATTATATATTATATAATAATATATAATTATATATTATATATAAT TATATATTATATAATAACATATAATTATATATAATATATAAATATATAAT ATATAAATATATAATATATAAATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp1 HG00639.hp2 others(16): Show HG00099.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp2 HG01255.hp1 HG01346.hp2 HG02559.hp1 HG02735.hp1 HG03239.hp1 HG03490.hp1 HG03492.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0055	19	75	0.2533	379	c.622 others(394): Show c.622-596_622-595insTATAATTATATATTATATCTAATTATATAT AATATATATATATTATATATATAATAATATATATACAATATATAATTATA TATTATATAATTATATATAATATATAATTATATATTATATATAATATATA ATTATATATTATATAATAATATATAATCATATATTATATATAATATATAA TTATATATTATATAATAATATATAATTATTAATATATAATTATATATAAT ATATAATTATATATTATATAATAATATATAATTATATATTATATATAATT ATATATTATATAATAACATATAATTATATATAATATATAAATATATAATA TATAAATATATAATATATAAATATATATAATATATAATTATATATAATA	LRRC23	ENSG00000010626.15	transcript	ENST00000443597.7	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
LRRC23_chr12_6899822_6919229	6909274	T T	TATATATA others(372): Show TATATATAATTATATATAATATATAATTATATATTATATCTAATTATATA TAATATATATATATTATATATATAATAATATATATACAATATATAATTAT ATATTATATAATTATATATAATATATAATTATATATTATATATAATATAT AATTATATATTATATAATAATATATAATTATATATTATATATAATATATA ATTATATATTATATAATAATATATAATTATTAATATATAATTATATATAA TATATAATTATATATTATATAATAATATATAATTATATATTATATATAAT TATATATTATATAATAACATATAATTATATATAATATATAAATATATAAT ATATAAATATATAATATATAAATATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00558.hp1 others(48): Show HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp1 HG00621.hp2 HG01070.hp2 HG01071.hp1 HG01099.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp2 HG01255.hp2 HG01516.hp1 HG01517.hp2 HG02056.hp2 HG02148.hp2 HG02155.hp1 HG02486.hp1 HG02615.hp1 HG02622.hp2 HG02698.hp1 HG02698.hp2 HG03490.hp2 HG03491.hp2 HG03710.hp2 HG03927.hp1 HG03942.hp2 NA18954.hp1 NA18954.hp2 NA18962.hp1 NA18965.hp2 NA18966.hp2 NA18969.hp2 NA18971.hp2 NA18973.hp1 NA18975.hp2 NA18979.hp2 NA18989.hp2 NA18995.hp2 NA19000.hp2 NA19002.hp2 NA19007.hp1 NA19012.hp2 NA19067.hp2 NA19068.hp2 NA19081.hp1 NA19085.hp1 NA19089.hp1 NA19091.hp1 NA20805.hp2 NA20905.hp2	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0001 a0003c0006 a0008c0010 a0001c0001 a0003c0006 a0008c0010	a0001c0001t0001 a0003c0006t0004 a0008c0010t0001 a0001c0001t0001 a0003c0006t0004 a0008c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(10): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0003c0006t0004g0101 a0008c0010t0001g0001	51	107	0.4766	379	c.622 others(394): Show c.622-596_622-595insTATAATTATATATTATATCTAATTATATAT AATATATATATATTATATATATAATAATATATATACAATATATAATTATA TATTATATAATTATATATAATATATAATTATATATTATATATAATATATA ATTATATATTATATAATAATATATAATTATATATTATATATAATATATAA TTATATATTATATAATAATATATAATTATTAATATATAATTATATATAAT ATATAATTATATATTATATAATAATATATAATTATATATTATATATAATT ATATATTATATAATAACATATAATTATATATAATATATAAATATATAATA TATAAATATATAATATATAAATATATATAATATATAATTATATATAATA	LRRC23	ENSG00000010626.15	transcript	ENST00000443597.7	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
LRRC27_chr10_132327193_132386508	132358844	C C	CAGCGTGG others(372): Show CAGCGTGGGGAGGAGCCGAGGTGATGGAGCGTGGGGAGGAGCCGAGGTGG TGGAGCGTGGGGAGGAGCCGAGGTGGTGGAGTGTGGGAAGGAGCCGAGGT GGTGGAGCAGCGTGGGGAGGAGCCGAGGTGATGGAGCAGTGTGGGGAGGA GCCGAGGTGGTGGAGTGTGGGGAGGAGCCGAGGTGGTGGAGCGTGGGGAG GAGCCGAGGTGGTGGAGCAGCGTGGGGAGGAGCCGAGGTGGTGGAGCGTG GGGAGGAGCCGAGGTGGTGGAGCGTGGGAAGGAGCCGAGGTGGTGGAGCA GCGTGGGGAGGAGCCGAGGTGGTGGAGCGTGGGGAGGAGCCGAGGTGGTG GAGCAGTGTGGGGAGGAGCCGAGGTGGTGG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0016 a0002c0004t0016	a0002c0004t0016g0026 a0002c0004t0016g0026	1	285	0.0035	379	c.117 others(398): Show c.1171-2608_1171-2607insGGGGAGGAGCCGAGGTGATGGAGCGT GGGGAGGAGCCGAGGTGGTGGAGCGTGGGGAGGAGCCGAGGTGGTGGAGT GTGGGAAGGAGCCGAGGTGGTGGAGCAGCGTGGGGAGGAGCCGAGGTGAT GGAGCAGTGTGGGGAGGAGCCGAGGTGGTGGAGTGTGGGGAGGAGCCGAG GTGGTGGAGCGTGGGGAGGAGCCGAGGTGGTGGAGCAGCGTGGGGAGGAG CCGAGGTGGTGGAGCGTGGGGAGGAGCCGAGGTGGTGGAGCGTGGGAAGG AGCCGAGGTGGTGGAGCAGCGTGGGGAGGAGCCGAGGTGGTGGAGCGTGG GGAGGAGCCGAGGTGGTGGAGCAGTGTGGGGAGGAGCCGAGGTGGTGGAG CGT	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
MMS22L_chr6_97137161_97288216	97269374	G G	GCCACTCT others(372): Show GCCACTCTACTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0238 a0002c0002t0009g0238	1	290	0.0034	379	c.697 others(394): Show c.697+527_697+528insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGTAGAGTGG	MMS22L	ENSG00000146263.12	transcript	ENST00000683635.1	protein_coding	7/24			chr6	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGGTGGT others(372): Show GTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGT GGCGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGG TGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTAGTGGTGGTG GTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGAT GGTGGTGGTGGTAGTGGTAATGATGGTGGTGACCATGATGGTGGTGGTAG TGGTAGTGCTGCTGGTGGTGGTGGTGGTGATGGTGGTAGTGTTCTGGTGG TAGTAGTGTTGGTTGTGGTGGTAGTCGTGGTGGTAGTGGTAGTGCTGCTG GTGGTGGTGGTGGTGATGGTGGTAGTGTTC	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0254 a0002c0002t0003g0254	1	4	0.2500	379	c.160 others(396): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ACCAGCAGCACTACCACTACCACCACGACTACCACCACAACCAACACTAC TACCACCAGAACACTACCACCATCACCACCACCACCACCAGCAGCACTAC CACTACCACCACCATCATGGTCACCACCATCATTACCACTACCACCACCA CCATCACCACCACCACCACTACCACCACCACCACCACCACCACCATCACC ACCACCACCACTACCACCACCACCACCACCATCACCACCACCACCACCAT CACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCG CCACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACC A	MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12			chr6	TogoVar
NCAPG2_chr7_158626169_158709804	158667982	T T	TTCCTTAC others(372): Show TTCCTTACCGACCCTGGGTCCCTCCGCCCCCCGTTACCCACTACTGGGTC CCTCTGCCCTCCTTACCTACCTTGTGTCCCTAGGCCCTCCCTTACCCACT ACTGGGTCCCTCCGCCCTCCCTTACCCACAACTGGGTCCCTCCGCCCTCC TTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTC CGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTG GGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACC CACTACTGGGTCCCTCCGCCCTCCCTTACCCACAACTGGGTCCCTCCGCC CTCCTTACCCACTACTGGGTCCCTCCGCCC	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0287 a0001c0001t0001g0287	1	154	0.0065	379	c.148 others(398): Show c.1480-3233_1480-3232insGGGCGGAGGGACCCAGTAGTGGGTAA GGAGGGCGGAGGGACCCAGTTGTGGGTAAGGGAGGGCGGAGGGACCCAGT AGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGG GACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGCG GGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGG GTAAGGAGGGCGGAGGGACCCAGTTGTGGGTAAGGGAGGGCGGAGGGACC CAGTAGTGGGTAAGGGAGGGCCTAGGGACACAAGGTAGGTAAGGAGGGCA GAGGGACCCAGTAGTGGGTAACGGGGGGCGGAGGGACCCAGGGTCGGTAA GGA	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158668243	T T	TCCTTACC others(372): Show TCCTTACCTACCTTGTGTCCCTAGGCCCTCCCTTACCCACTACTGGGTCC CTCCGCCCTCCCTTACCCACAACTGGGTCCCTCCGCCCTCCTTACCCACT ACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCT TACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCC GCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACAACTG GGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACC CACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCT TCCTTACCGACCCTGGGTCCCTCCGCCCCC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	167	0.0060	379	c.147 others(398): Show c.1479+3270_1479+3271insGGGGGCGGAGGGACCCAGGGTCGGTA AGGAAGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGT AGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGG GACCCAGTTGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGA GGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTG GGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACC CAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTTGTGGGTAAGGGAGGGC GGAGGGACCCAGTAGTGGGTAAGGGAGGGCCTAGGGACACAAGGTAGGTA AGG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158668272	T T	TCCTTACC others(372): Show TCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCC CTCCGCCCTCCCTTACCCACAACTGGGTCCCTCCGCCCTCCCTTACCCAC TACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCC TTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACAACTGGGTCCCT CCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACT GGGTCCCTCCGCCCTCCTTACCTACCCTCTGGCCCTCCACCCTCTTACCC ACTACTGGGTCCCTCCGCCTTCCTTACCGACCCTGGGTCCCTCCGCCCCC CCTTACCCACTACTGGGTCCCTCTGCCCTC	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	299	0.0033	379	c.147 others(398): Show c.1479+3241_1479+3242insGAGGGCAGAGGGACCCAGTAGTGGGT AAGGGGGGGCGGAGGGACCCAGGGTCGGTAAGGAAGGCGGAGGGACCCAG TAGTGGGTAAGAGGGTGGAGGGCCAGAGGGTAGGTAAGGAGGGCGGAGGG ACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGG GCGGAGGGACCCAGTTGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGG GTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCC AGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTTGTGGGTAAGGGAGGGC GGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTA AGG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTATAT others(372): Show CTGTATATATGTACAGCATGTATACTGTGTACAGCATGTATACTGTGTAC AGCATGTATACTGTATGTATGTATACTGTATGTATGTATACTGTATGTAT GTATACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGT ATACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGTAT ACTGTGTATGCAGTATGTATACAGTATACATACTGCATGCAGTATGTATA CTGTATACATACTGCATGCAGTATGTATACTGTATATATACACTATACAG TATGTATACTGTATATATACACACAGTATGTATACTGTATATATACACAC AGTATGTATACTGTATATATACACACAGTA	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0274 a0001c0002t0012g0274	1	118	0.0085	379	c.-75 others(398): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTATA CATACTGTATAGTGTATATATACAGTATACATACTGCATGCAGTATGTAT ACAGTATACATACTGCATGCAGTATGTATACTGTATACATACTGCATACA CAGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATACG GTATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGT ATACATACATACAGTATACATACATACAGTATACATACATACAGTATACA TGCTGTACACAGTATACATGCTGTACACAGTATACATGCTGTACATATAT ACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NXN_chr17_794310_984776	948920	T T	TGCCTCCT others(372): Show TGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCT CCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCC TCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCC TGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTC TCCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCCTGCCT CCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCC CCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTC CTCTCCCCCCTGCCTCCTCCTCTCCCCGCG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0037	1	207	0.0048	379	c.360 others(398): Show c.360+30398_360+30399insCGCGGGGAGAGGAGGAGGCAGGGGGG AGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGC AGGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGCGGGGAGAG GAGGAGGCAGGGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCAGGG GGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGGA GGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAG AGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGG GGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGA GGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OPTC_chr1_203489153_203513949	203500071	A A	ACCTCTAC others(372): Show ACCTCTACCACCCACCTCCACCTCCAGCACCCACCCCACCCCTACCACCA CCCACCACCACCACCACCACCCACCTACACCACCTACCACTACCACCACC ACCTACCTCCATCACCTACCACCACCACCACCACCCACCTCCACCTCCAC CACACACCTCCACCACCTACCACTGCCACCACCACCACCTACCTCCACCA CCACCCACCTCCACCTCCAGCACCCACCTCCACCCCTACCACCACCCACC ACCACCACCACCCACCTCCACCACCTACCACCACCACCACCACCTACCTC CACCACCACCCACCTCCACCACCACCACCACCCACCTCCACCACCACCCA CCTCCACCACCACCACCACCCACCTCCACC	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	4	0.2500	379	c.732 others(394): Show c.732+223_732+224insCTACCACCCACCTCCACCTCCAGCACCCAC CCCACCCCTACCACCACCCACCACCACCACCACCACCCACCTACACCACC TACCACTACCACCACCACCTACCTCCATCACCTACCACCACCACCACCAC CCACCTCCACCTCCACCACACACCTCCACCACCTACCACTGCCACCACCA CCACCTACCTCCACCACCACCCACCTCCACCTCCAGCACCCACCTCCACC CCTACCACCACCCACCACCACCACCACCCACCTCCACCACCTACCACCAC CACCACCACCTACCTCCACCACCACCCACCTCCACCACCACCACCACCCA CCTCCACCACCACCCACCTCCACCACCACCACCACCCACCTCCACCCCT	OPTC	ENSG00000188770.10	transcript	ENST00000367222.7	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(372): Show ACTGAATGTACATTATTATTATTATTATTATTATTATTATTATTATTATT ATTTTTTTTTTTTTTTTTTTATTTTATTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCT CGGCTCACTGCAAGCTCTGCTTCCCGGGTTCCCGCCATTCTCCTGCCTCA GCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGT CTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	82	0.0122	379	c.-29 others(394): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAATAAAATAAAAAAAAAAAAAAAAAAAT AATAATAATAATAATAATAATAATAATAATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(372): Show ACTGAATGTACATTATTATTATTATTATTATTATTATTATTATTATTATT ATTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCT CGGCTCACTGCAAGCTCTGCTTCCCGGGTTCCCGCCATTCTCCTGCCTCA GCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGT CTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	82	0.0122	379	c.-29 others(394): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAT AATAATAATAATAATAATAATAATAATAATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
P2RX5_chr17_3668227_3701155	3680873	C C	CAGTGTCC others(372): Show CAGTGTCCTCCACCCTGCATCCTCCACCCAGTGTCCTCCACCCTGCATCC TCCACCCTGCATCCTCCACCCTGCGTCCTCCACCCAGCGTCCTCCACCCG GCGTCCTCCACCCTGCTTCCTCCACCCGGCTTCCTCTACCCTGCTTCCTC CATCCTGGGTCCTCCACCCTGCAGGCCACCACCCTGCTTCCTCCATCCTG GGTCCTCCACCCTGCATCCTCCACCCTGCATCCTCCACCCTGCGTCCTCC ACCCAGCGTCCTCCACCCTGCATCCTCCACCCAGTGTCCTCCACCCTGCA TCCTCCACCCTGCATCCTCCACCCTGCATCCTCCACCCAGCGTCCTCCAC CCTGCATCCTCCACCCTGAGTCCTCCACCT	intron_variant intron_variant	MODIFIER	HG02965.hp2 NA19240.hp2 HG02965.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0279 a0002c0002t0001g0316 a0001c0001t0001g0279 a0002c0002t0001g0316	2	117	0.0171	379	c.106 others(398): Show c.1064+1022_1064+1023insAGGTGGAGGACTCAGGGTGGAGGATG CAGGGTGGAGGACGCTGGGTGGAGGATGCAGGGTGGAGGATGCAGGGTGG AGGATGCAGGGTGGAGGACACTGGGTGGAGGATGCAGGGTGGAGGACGCT GGGTGGAGGACGCAGGGTGGAGGATGCAGGGTGGAGGATGCAGGGTGGAG GACCCAGGATGGAGGAAGCAGGGTGGTGGCCTGCAGGGTGGAGGACCCAG GATGGAGGAAGCAGGGTAGAGGAAGCCGGGTGGAGGAAGCAGGGTGGAGG ACGCCGGGTGGAGGACGCTGGGTGGAGGACGCAGGGTGGAGGATGCAGGG TGGAGGATGCAGGGTGGAGGACACTGGGTGGAGGATGCAGGGTGGAGGAC ACT	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	10/11			chr17	TogoVar
PATJ_chr1_61737480_62168915	62137609	G G	GACACAGA others(372): Show GACACAGAGTGAGGGGGGACAGAGGCCTGAGGGGGAAATGCCTCCGGAGG GGGGGGACACAGAGTGAGGGGGGACAGAGGCCTGAGGGGGAAATGCCTCC GGAGGGGGGAACACAGAGTGAGGGGGGACAGAGGCCTGAGGGGGAAATGC CTCCGGAGGGGGGAACACAGAGTGAGGGGGGACAGAGGCCTGAGAGGGAA ATGTCTCTGGAGGGGGAAACACAGAGTGAAGGGGGACAGAGGCCTGAGAG GGAAATGTTTCTGGAGGGGGAAACACAGAGTGAAGGGGGACAGAGGCCTG AGAGGGAAATGCCTCCGGAGGGGGGAACACAGAGTGAGGGGGGACAGAGG CCTGAGGGGGAAATGCCTCTGGAGGGGGGA	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0014 a0007c0013t0014	a0007c0013t0014g0156 a0007c0013t0014g0156	1	4	0.2500	379	c.527 others(398): Show c.5271+8702_5271+8703insGCCTCCGGAGGGGGGGGACACAGAGT GAGGGGGGACAGAGGCCTGAGGGGGAAATGCCTCCGGAGGGGGGAACACA GAGTGAGGGGGGACAGAGGCCTGAGGGGGAAATGCCTCCGGAGGGGGGAA CACAGAGTGAGGGGGGACAGAGGCCTGAGAGGGAAATGTCTCTGGAGGGG GAAACACAGAGTGAAGGGGGACAGAGGCCTGAGAGGGAAATGTTTCTGGA GGGGGAAACACAGAGTGAAGGGGGACAGAGGCCTGAGAGGGAAATGCCTC CGGAGGGGGGAACACAGAGTGAGGGGGGACAGAGGCCTGAGGGGGAAATG CCTCTGGAGGGGGGAACACAGAGTGAGGGGGGACAGAGGCCTGAGGGGGA AAT	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	41/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	62137609	G G	GACACAGA others(372): Show GACACAGAGTGAGGGGGGGACAGAGGCCTGAGGGGGAAATGCCTCCGGAG GGGGGGACACAGAGTGAGGGGGGACAGAGGCCTGAGGGGGAAATGCCTCC GGAGGGGGGAACACAGAGTGAGGGGGGACAGAGGCCTGAGGGGGAAATGC CTCCGGAGGGGGGAACACAGAGTGAGGGGGGACAGAGGCCTGAGAGGGAA ATGTCTCTGGAGGGGGAAACACAGAGTGAAGGGGGACAGAGGCCTGAGAG GGAAATGTTTCTGGAGGGGGAAACACAGAGTGAAGGGGGACAGAGGCCTG AGAGGGAAATGCCTCCGGAGGGGGGAACACAGAGTGAGGGGGGACAGAGG CCTGAGGGGGAAATGCCTCTGGAGGGGGGA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0061 a0002c0061	a0002c0061t0003 a0002c0061t0003	a0002c0061t0003g0099 a0002c0061t0003g0099	1	4	0.2500	379	c.527 others(398): Show c.5271+8681_5271+8682insGACAGAGGCCTGAGGGGGAAATGCCT CCGGAGGGGGGGACACAGAGTGAGGGGGGACAGAGGCCTGAGGGGGAAAT GCCTCCGGAGGGGGGAACACAGAGTGAGGGGGGACAGAGGCCTGAGGGGG AAATGCCTCCGGAGGGGGGAACACAGAGTGAGGGGGGACAGAGGCCTGAG AGGGAAATGTCTCTGGAGGGGGAAACACAGAGTGAAGGGGGACAGAGGCC TGAGAGGGAAATGTTTCTGGAGGGGGAAACACAGAGTGAAGGGGGACAGA GGCCTGAGAGGGAAATGCCTCCGGAGGGGGGAACACAGAGTGAGGGGGGA CAGAGGCCTGAGGGGGAAATGCCTCTGGAGGGGGGAACACAGAGTGAGGG GGG	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	41/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PCBP3_chr21_45638725_45947450	45927331	T T	TCCTCCCC others(372): Show TCCTCCCCTCCTGCCCTCCTCTCCTTCACTCTGCCTCCTCCCTCCCCTCC TCTCCTCTCCCTCCCTCTCCCCCTCCTCCCTCCTCTCTCCTCTCCCTCCC TCCCTCTCCCCCTACTTCCTCCCCTCCTGCCCTCCTCTCCCTCCCCTCCT GTCCCTCCCTCCCCTCCTGTCCCTCCCTCCCCTCCTGTCCCTCCCTCCCC TCCTGTCCCTCCCTCCCCTCCTGCCTTCCTCTTCCTCCCTCTCCCTCCCT CTCCCCCTCCTCCCTCCTCTCCTCTCTCCCCTCCCTCCCTCTCCCCCTCC TCCCTCCTCTCCTCTCCCCTCCCTCACTCTCCCCCTCCTCCCTCCTCTCC TCTCTCCCCTCCCTCACTCTCCCCCTCCTC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00642.hp1 HG00738.hp2 others(15): Show HG00544.hp2 HG00642.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01123.hp2 HG01192.hp1 HG01243.hp2 HG01358.hp1 HG01515.hp1 HG01517.hp2 HG01943.hp2 HG02004.hp1 HG02602.hp2 HG02698.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0012 a0001c0001t0016 a0001c0002t0004 others(2): Show a0001c0001t0012 a0001c0001t0016 a0001c0002t0004 a0001c0002t0006 a0001c0002t0025	a0001c0001t0012g0031 a0001c0001t0012g0032 a0001c0001t0016g0011 others(15): Show a0001c0001t0012g0031 a0001c0001t0012g0032 a0001c0001t0016g0011 a0001c0002t0004g0003 a0001c0002t0004g0004 a0001c0002t0004g0005 a0001c0002t0004g0006 a0001c0002t0004g0007 a0001c0002t0004g0072 a0001c0002t0004g0073 a0001c0002t0004g0074 a0001c0002t0004g0075 a0001c0002t0006g0010 a0001c0002t0006g0033 a0001c0002t0006g0077 a0001c0002t0006g0086 a0001c0002t0006g0104 a0001c0002t0025g0015	18	239	0.0753	379	c.718 others(396): Show c.718-2575_718-2574insGCCCTCCTCTCCTTCACTCTGCCTCCTC CCTCCCCTCCTCTCCTCTCCCTCCCTCTCCCCCTCCTCCCTCCTCTCTCC TCTCCCTCCCTCCCTCTCCCCCTACTTCCTCCCCTCCTGCCCTCCTCTCC CTCCCCTCCTGTCCCTCCCTCCCCTCCTGTCCCTCCCTCCCCTCCTGTCC CTCCCTCCCCTCCTGTCCCTCCCTCCCCTCCTGCCTTCCTCTTCCTCCCT CTCCCTCCCTCTCCCCCTCCTCCCTCCTCTCCTCTCTCCCCTCCCTCCCT CTCCCCCTCCTCCCTCCTCTCCTCTCCCCTCCCTCACTCTCCCCCTCCTC CCTCCTCTCCTCTCTCCCCTCCCTCACTCTCCCCCTCCTCCCTCCCCTCC T	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDCD6_chr5_266646_319974	318069	T T	TCCCTTGC others(372): Show TCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCC CCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCCACCTCCCCCCTCACC TCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCCTCACCCACCACCT CCCGCCCTCACCCTCCACCTCCCCCCGCACCCTGCACCTCCCACCCTTAC CCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCCCC CCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCCTCCCTCCCTCTCCCC CTCATCCTGCACCTCCCCCCTCCACGCCCCCTCACCTCCCCCCACCTTCC ACCTCCCCCCTCCACCTCCCCCCTCACTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp1 HG02293.hp1 NA18975.hp1 HG01952.hp1 HG02293.hp1 NA18975.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0138 a0001c0002t0001g0309 a0001c0002t0001g0322 a0001c0002t0001g0138 a0001c0002t0001g0309 a0001c0002t0001g0322	3	120	0.0250	379	c.35 others(390): Show c.3554_*3555insCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCC TCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCC ACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCC CCTCACCCACCACCTCCCGCCCTCACCCTCCACCTCCCCCCGCACCCTGC ACCTCCCACCCTTACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCC ATCTTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCC TCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTCAC CTCCCCCCACCTTCCACCTCCCCCCTCCACCTCCCCCCTCACTTC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3096		chr5	TogoVar
PDCD6_chr5_266646_319974	318069	T T	TCCCTTGC others(372): Show TCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCC CCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCCACCTCCCCCCTCACC TCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCCTCACCCACCACCT CCCGCCCTCACCCTCCACCTCCCCCCGCACCCTGCACCTCCCCCCGCACC CTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCCCCC CTCACCCTGCACCTCCCTCTCGCCCTGCACCTCCTCCCTCCCTCTCCCCC TCATCCTGCACCTCCCCCCTCCACGCCCCCTCACCTCCCCCCACCTTCCA CCTCCCCCCTCCACCTCCCCCCCTCACTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0054 a0001c0002t0001g0054	1	118	0.0085	379	c.35 others(390): Show c.3554_*3555insCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCC TCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCC ACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCC CCTCACCCACCACCTCCCGCCCTCACCCTCCACCTCCCCCCGCACCCTGC ACCTCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCA TCTTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCCT CCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTCACC TCCCCCCACCTTCCACCTCCCCCCTCCACCTCCCCCCCTCACTTC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3096		chr5	TogoVar
PDXK_chr21_43714129_43767299	43741361	C C	CGGGGGGC others(372): Show CGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGG GGCTGGCGGGGGGGCTCGCGGGGGGCTGGCGGGGGGGCTCGCGGGGGGCT CGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGGCTCGCGGGGGGGCTCGCG GGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTGGCGGGGGG GCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTGGCGGGGGGGGCT CGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGGCTCGCGG GGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGG GCTCGCGGGGGGGCTCGCGGGGGGCTCGCG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0039 a0001c0003t0039	a0001c0003t0039g0326 a0001c0003t0039g0326	1	301	0.0033	379	c.143 others(394): Show c.143-298_143-297insCGCGGGGGGGCTCGCGGGGGGCTCGCGGGG GGCTCGCGGGGGGCTGGCGGGGGGGCTCGCGGGGGGCTGGCGGGGGGGCT CGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGGCTCGCGG GGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGG CTGGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTGG CGGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGG GGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGG CTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCT	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PLEC_chr8_143910153_143944597	143928664	C C	CAGCGGGT others(372): Show CAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTATC ATGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTGCAA CACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAGTAG ACAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTAT CACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTGC AACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAGT AGACAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCT ATCACTGTGCTGGTTCTGTGAGGAGTAGAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00621.hp2 HG00642.hp2 others(32): Show HG00099.hp2 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01109.hp2 HG01175.hp2 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG02683.hp1 HG02698.hp1 HG02735.hp2 HG03688.hp1 HG03704.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18955.hp2 NA19067.hp1 NA19080.hp2 NA19081.hp2 NA20905.hp2	a0002 a0010 a0014 others(12): Show a0002 a0010 a0014 a0018 a0019 a0029 a0034 a0035 a0038 a0065 a0080 a0086 a0087 a0092 a0105	a0002c0002 a0002c0015 a0002c0053 others(21): Show a0002c0002 a0002c0015 a0002c0053 a0002c0054 a0002c0056 a0002c0060 a0002c0064 a0002c0076 a0010c0017 a0010c0066 a0010c0067 a0014c0016 a0018c0022 a0019c0029 a0029c0061 a0034c0077 a0035c0117 a0038c0068 a0065c0047 a0080c0050 a0086c0044 a0087c0116 a0092c0118 a0105c0065	a0002c0002t0002 a0002c0002t0014 a0002c0015t0007 others(22): Show a0002c0002t0002 a0002c0002t0014 a0002c0015t0007 a0002c0053t0007 a0002c0054t0002 a0002c0056t0002 a0002c0060t0002 a0002c0064t0002 a0002c0076t0002 a0010c0017t0002 a0010c0066t0002 a0010c0067t0002 a0014c0016t0002 a0018c0022t0002 a0019c0029t0002 a0029c0061t0002 a0034c0077t0002 a0035c0117t0002 a0038c0068t0002 a0065c0047t0002 a0080c0050t0002 a0086c0044t0002 a0087c0116t0002 a0092c0118t0002 a0105c0065t0002	a0002c0002t0002g0006 a0002c0002t0002g0022 a0002c0002t0002g0064 others(26): Show a0002c0002t0002g0006 a0002c0002t0002g0022 a0002c0002t0002g0064 a0002c0002t0002g0077 a0002c0002t0014g0093 a0002c0015t0007g0122 a0002c0053t0007g0121 a0002c0054t0002g0097 a0002c0056t0002g0062 a0002c0060t0002g0085 a0002c0064t0002g0079 a0002c0076t0002g0094 a0010c0017t0002g0081 a0010c0017t0002g0086 a0010c0066t0002g0082 a0010c0067t0002g0083 a0014c0016t0002g0063 a0018c0022t0002g0019 a0019c0029t0002g0039 a0029c0061t0002g0078 a0034c0077t0002g0095 a0035c0117t0002g0219 a0038c0068t0002g0046 a0065c0047t0002g0084 a0080c0050t0002g0061 a0086c0044t0002g0099 a0087c0116t0002g0234 a0092c0118t0002g0147 a0105c0065t0002g0080	35	246	0.1423	379	c.326 others(396): Show c.3260+438_3260+439insATCTACTCCTCACAGAACCAGCACAGTG ATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCGCTGT CTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTTCCTGTG TTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGAACCAGCACAG TGATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCGCT GTCTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTTCCTG TGTTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGAACCAGCAC ATGATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCGC T	PLEC	ENSG00000178209.17	transcript	ENST00000345136.8	protein_coding	25/31			chr8	TogoVar
PLEC_chr8_143910153_143978529	143928664	C C	CAGCGGGT others(372): Show CAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTATC ATGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTGCAA CACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAGTAG ACAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTAT CACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTGC AACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAGT AGACAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCT ATCACTGTGCTGGTTCTGTGAGGAGTAGAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00621.hp2 HG00642.hp2 others(31): Show HG00099.hp2 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01109.hp2 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG02523.hp2 HG02683.hp1 HG02698.hp1 HG02735.hp2 HG03688.hp1 HG03704.hp2 HG04184.hp1 HG04199.hp1 HG04228.hp2 HG06807.hp2 NA18955.hp2 NA19067.hp1 NA19080.hp2 NA19081.hp2 NA20905.hp2	a0002 a0008 a0013 others(12): Show a0002 a0008 a0013 a0018 a0019 a0020 a0028 a0033 a0034 a0036 a0062 a0074 a0078 a0084 a0095	a0002c0002 a0002c0019 a0002c0046 others(20): Show a0002c0002 a0002c0019 a0002c0046 a0002c0047 a0002c0049 a0002c0053 a0002c0065 a0008c0011 a0008c0055 a0008c0056 a0013c0010 a0018c0018 a0019c0017 a0020c0026 a0028c0050 a0033c0066 a0034c0101 a0036c0057 a0062c0040 a0074c0043 a0078c0100 a0084c0102 a0095c0054	a0002c0002t0002 a0002c0002t0013 a0002c0019t0007 others(21): Show a0002c0002t0002 a0002c0002t0013 a0002c0019t0007 a0002c0046t0007 a0002c0047t0002 a0002c0049t0002 a0002c0053t0002 a0002c0065t0002 a0008c0011t0002 a0008c0055t0002 a0008c0056t0002 a0013c0010t0002 a0018c0018t0002 a0019c0017t0002 a0020c0026t0002 a0028c0050t0002 a0033c0066t0002 a0034c0101t0002 a0036c0057t0002 a0062c0040t0002 a0074c0043t0002 a0078c0100t0002 a0084c0102t0002 a0095c0054t0002	a0002c0002t0002g0015 a0002c0002t0002g0017 a0002c0002t0002g0028 others(31): Show a0002c0002t0002g0015 a0002c0002t0002g0017 a0002c0002t0002g0028 a0002c0002t0002g0031 a0002c0002t0002g0032 a0002c0002t0002g0053 a0002c0002t0002g0136 a0002c0002t0002g0137 a0002c0002t0013g0117 a0002c0019t0007g0049 a0002c0046t0007g0054 a0002c0047t0002g0018 a0002c0049t0002g0047 a0002c0053t0002g0068 a0002c0065t0002g0022 a0008c0011t0002g0030 a0008c0011t0002g0062 a0008c0055t0002g0051 a0008c0056t0002g0046 a0013c0010t0002g0040 a0018c0018t0002g0016 a0019c0017t0002g0019 a0019c0017t0002g0021 a0020c0026t0002g0155 a0020c0026t0002g0156 a0028c0050t0002g0037 a0033c0066t0002g0172 a0034c0101t0002g0159 a0036c0057t0002g0024 a0062c0040t0002g0026 a0074c0043t0002g0044 a0078c0100t0002g0154 a0084c0102t0002g0149 a0095c0054t0002g0052	34	200	0.1700	379	c.321 others(396): Show c.3218+438_3218+439insATCTACTCCTCACAGAACCAGCACAGTG ATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCGCTGT CTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTTCCTGTG TTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGAACCAGCACAG TGATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCGCT GTCTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTTCCTG TGTTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGAACCAGCAC ATGATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCGC T	PLEC	ENSG00000178209.17	transcript	ENST00000356346.7	protein_coding	25/31			chr8	TogoVar
PPP1R16B_chr20_38800697_38928024	38895766	A A	ACTTCCTT others(372): Show ACTTCCTTCTTTCTCTCCTCCCTTCCTCCCTTCCTTCTTTCTCTCCTCCC TCCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTCTCC TCCCTTCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCT CTCCTCCCTCCCTCCTTCCTTCTTTCTCTCCTCCCTCCCTCCTTCCTTCT TTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCC TTCTTTCTCTCCTCCCTCCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCC TTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTCTCCTCCCTCC CTCCTTCCTTCTTTCTCTCCTCCCTTCCTC	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0189 a0001c0002t0017g0189	1	186	0.0054	379	c.467 others(392): Show c.467+78_467+79insTCCTCCCTTCCTTCTTTCTCTCCTCCCTCCCT CCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTCTCCTCCCT TCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTCTCCT CCCTCCCTCCTTCCTTCTTTCTCTCCTCCCTCCCTCCTTCCTTCTTTCTC TCCTCCCTTCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTT TCTCTCCTCCCTCCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCT TCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTCTCCTCCCTCCCTCCT TCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTCTCCTCCCT	PPP1R16B	ENSG00000101445.10	transcript	ENST00000299824.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
PPP1R16B_chr20_38800697_38928024	38895766	A A	ACTTCCTT others(372): Show ACTTCCTTCTTTCTCTCCTCCCTTCCTCCCTTCCTTCTTTCTCTCCTCCC TCCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTCTCC TCCCTTCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCT CTCCTCCCTTCCTCCTTCCTTCTTTCTCTCCTCCCTCCCTCCTTCCTTCT TTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCC TTCTTTCTCTCCTCCCTCCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCC TTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTCTCCTCCCTCC CTCCTTCCTTCTTTCTCTCCTCCCTTCCTC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0187 a0001c0002t0002g0187	1	186	0.0054	379	c.467 others(392): Show c.467+78_467+79insTCCTCCCTTCCTTCTTTCTCTCCTCCCTCCCT CCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTCTCCTCCCT TCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTCTCCT CCCTTCCTCCTTCCTTCTTTCTCTCCTCCCTCCCTCCTTCCTTCTTTCTC TCCTCCCTTCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTT TCTCTCCTCCCTCCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCT TCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTCTCCTCCCTCCCTCCT TCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTCTCCTCCCT	PPP1R16B	ENSG00000101445.10	transcript	ENST00000299824.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
PPP1R16B_chr20_38800697_38928024	38895766	A A	ACTTCCTT others(372): Show ACTTCCTTCTTTCTCTCCTCCCTTCCTCCCTTCCTTCTTTCTCTCCTCCC TCCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTCTCC TCCCTTCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCT CTCCTCCCTTCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCT TTCTCTCCTCCCTCCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCC TTCTTTCTCTCCTCCCTCCCTCCTTCCTTCTTTCTCTCCTCCCTCCCTCC TTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTCTCCTCCCTTC CTCCTTCCTTCTTTCTCTCCTCCCTTCCTC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02132.hp2 HG00597.hp1 HG02132.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0028 a0001c0002t0002g0183 a0001c0002t0002g0028 a0001c0002t0002g0183	2	187	0.0107	379	c.467 others(392): Show c.467+78_467+79insTCCTCCCTTCCTTCTTTCTCTCCTCCCTCCCT CCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTCTCCTCCCT TCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTCTCCT CCCTTCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTC TCCTCCCTCCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTT TCTCTCCTCCCTCCCTCCTTCCTTCTTTCTCTCCTCCCTCCCTCCTTCCT TCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCT TCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTCTCCTCCCT	PPP1R16B	ENSG00000101445.10	transcript	ENST00000299824.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
RASA3_chr13_113972783_114137623	114119697	C C	CCTCTCTC others(372): Show CCTCTCTCCAGCCAGACGTCGGTCAGGGCCCCTCCCTCTCTCCAGCCAGG CGTCGATCAGGGCCCCTCCCTCTCTCCAGCCAGGCGTCGATCAGGGCCCC CCCTTCTCTCCAGCCAGGCGTCGATCAGGGCCCCTCCCTCTCTCCAGCCA GGCGTCGATCAGGGCCCCCCTCCCCTCTCCAGCCAGGCGTCGATCAGTGC CCCCCTCCCCTCTCCAGCCAGGCGTCGATCAGTGCCCCCCTCCCCTCTCC AGCCAGGCGTCGATCAGGGCCCCTCCCTCTCTCCAGCCAGGCGTCGATCA GGGCCCCCCCTCCTCTCTCCAGCCAGGCGTCGATCAAGTCCCCCCCTTCT CTCCAGCCAGACGTCGATCAGGGCCCCCCT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01993.hp1 HG01993.hp2 others(2): Show HG01361.hp2 HG01993.hp1 HG01993.hp2 HG02148.hp2 NA18971.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0003 a0001c0002t0002 a0001c0003t0003	a0001c0002t0002g0019 a0001c0002t0002g0031 a0001c0003t0003g0020 others(2): Show a0001c0002t0002g0019 a0001c0002t0002g0031 a0001c0003t0003g0020 a0001c0003t0003g0022 a0001c0003t0003g0030	5	65	0.0769	379	c.55+ others(396): Show c.55+12737_55+12738insAGGGGGGCCCTGATCGACGTCTGGCTGG AGAGAAGGGGGGGACTTGATCGACGCCTGGCTGGAGAGAGGAGGGGGGGC CCTGATCGACGCCTGGCTGGAGAGAGGGAGGGGCCCTGATCGACGCCTGG CTGGAGAGGGGAGGGGGGCACTGATCGACGCCTGGCTGGAGAGGGGAGGG GGGCACTGATCGACGCCTGGCTGGAGAGGGGAGGGGGGCCCTGATCGACG CCTGGCTGGAGAGAGGGAGGGGCCCTGATCGACGCCTGGCTGGAGAGAAG GGGGGGCCCTGATCGACGCCTGGCTGGAGAGAGGGAGGGGCCCTGATCGA CGCCTGGCTGGAGAGAGGGAGGGGCCCTGACCGACGTCTGGCTGGAGAGA G	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RETNLB_chr3_108750638_108762410	108759522	T T	TGTATGTG others(372): Show TGTATGTGTATGCATACATATGTATGTGTATGCATACATATGTATGTGTA TGCATACATATGTATGTATGTGTATGCATACGTATGTATGTATGTGTATA CATACGTATGTATGTATGTGTATACATACGTATGTATGTATGTGTATACA TACGTATGTATGTATGTGTATACATACGTATGTATGTATGGTACACATAC ATACGTATGTATGTGTACACATACATACGTATGTATGTGTACACATACGT ATGTATGTGTACACATACATACGTATGTATGTGTACACATACGTATGTAT GTGTACACATACATACGTATGTATGTGTACACATACGTATGTATGTGTAC ACATACATACGTATGTATGTGTACACATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	389	0.0026	379	c.-23 others(390): Show c.-2338_-2337insGTATGTGTACACATACATACGTATGTATGTGTAC ACATACATACGTATGTGTACACATACATACGTATGTATGTGTACACATAC ATACGTATGTGTACACATACATACGTATGTATGTGTACACATACATACGT ATGTGTACACATACATACGTATGTATGTGTACACATACATACGTATGTAT GTGTACCATACATACATACGTATGTATACACATACATACATACGTATGTA TACACATACATACATACGTATGTATACACATACATACATACGTATGTATA CACATACATACATACGTATGCATACACATACATACATATGTATGCATACA CATACATATGTATGCATACACATACATATGTATGCATACACATAC	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2113		chr3	TogoVar
RIPOR3_chr20_50581108_50696542	50666223	T T	TTTTCTTT others(372): Show TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0056 a0002c0002t0001g0056	1	234	0.0043	379	c.3+2 others(394): Show c.3+24902_3+24903insGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	1/21			chr20	TogoVar
RNF213_chr17_80255852_80403794	80355675	G G	GGAAGAAG others(372): Show GGAAGAAGCGGGGTGAATGGGAATGGGGGCTTACAGAGGAAGAAGCGACG AAGAAGTGGGGTGACCGGGAATGGGGGCTCACAGGGGAAGAAGTGGGGTG AACAGGATTGGGGGCTTATGGAGGAAGAAGCGGGGTGAACGGGAATGGGG GCTTACAGGGGGAAGAAGCGGGGTGGACGGGAATGGGGGCTTACAGGGGG AAGAAGCGGGGTGGACGGGAATGGGGGCTTACGGAGGAAGAAGCGGGGTG ACCGGGAATGGGAGCTTACAGGGGAAGAAGCGGGGTGAATGGGAATGGGG GCTCACGGAGGAAGAAGCGGGGTGGATGGGAATCGGGGCTCACGGAGGAA GAGGGGTGACCGGGAATGGGGGCTCACAGA	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18969.hp2 NA19060.hp2 NA18954.hp1 NA18969.hp2 NA19060.hp2	a0003 a0003	a0003c0005 a0003c0074 a0003c0077 a0003c0005 a0003c0074 a0003c0077	a0003c0005t0010 a0003c0074t0010 a0003c0077t0022 a0003c0005t0010 a0003c0074t0010 a0003c0077t0022	a0003c0005t0010g0265 a0003c0074t0010g0163 a0003c0077t0022g0056 a0003c0005t0010g0265 a0003c0074t0010g0163 a0003c0077t0022g0056	3	146	0.0205	379	c.108 others(400): Show c.10862+1100_10862+1101insAAGAAGCGGGGTGAATGGGAATGG GGGCTTACAGAGGAAGAAGCGACGAAGAAGTGGGGTGACCGGGAATGGGG GCTCACAGGGGAAGAAGTGGGGTGAACAGGATTGGGGGCTTATGGAGGAA GAAGCGGGGTGAACGGGAATGGGGGCTTACAGGGGGAAGAAGCGGGGTGG ACGGGAATGGGGGCTTACAGGGGGAAGAAGCGGGGTGGACGGGAATGGGG GCTTACGGAGGAAGAAGCGGGGTGACCGGGAATGGGAGCTTACAGGGGAA GAAGCGGGGTGAATGGGAATGGGGGCTCACGGAGGAAGAAGCGGGGTGGA TGGGAATCGGGGCTCACGGAGGAAGAGGGGTGACCGGGAATGGGGGCTCA CAGAG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RTN4IP1_chr6_106565771_106634498	106589237	G G	GGAGGGAG others(372): Show GGAGGGAGGAGGGAGGAGGAGGGAGGAGGAGGGAGGGGGAGGGAGGGGGA GGGAGGAGGAGGGAGGGGGAGGGAGGAGGAGGGAGGGGGAGGGAGGAGGA GGGAGGGGGAGGGAGGAGGAGGGAGGGGGAGGAGGGAGGGAGGGGGAGGG AGGGAGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGAA GGGGGAGAAGAAGGAGAAGAAGGAGAAGAGGAAGAGGAAGAAGAGGAAGA GGAAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAG GAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGA GAAGGAGGAGGAGAAGAAGGAGGAGGAGAA	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0043 a0001c0002t0001g0043	1	2	0.5000	379	c.807 others(396): Show c.807-1376_807-1375insTTCTCCTCCTCCTTCTTCTCCTCCTCCT TCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCC TCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTT CCTCTTCCTCTTCTTCCTCTTCCTCTTCTCCTTCTTCTCCTTCTTCTCCC CCTTCTCCCCCTCCCTCCTCCCCCTCCCTCCTCCCCCTCCCTCCTCCTCC CTCCCTCCCCCTCCCTCCCTCCTCCCCCTCCCTCCTCCTCCCTCCCCCTC CCTCCTCCTCCCTCCCCCTCCCTCCTCCTCCCTCCCCCTCCCTCCTCCTC CCTCCCCCTCCCTCCCCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTCCCT C	RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding	6/8			chr6	TogoVar
SARDH_chr9_133658560_133743352	133668443	T T	TACCCTCC others(372): Show TACCCTCCCTCTCCCTCACCCTCCCTCTCCCCTCACCCTCTCTCTCCCTC ACCCTCCCTCTCCCCTCGCCCTCCCTCTCCCCTCGCCCTCCCTCTCCCCT CACCCTCACCCTCCCTCTCCCTCACCCTCACCCTCCCTCTCCCTCACCCT CCCTCTCCCCTCACCCTCTCTCTCCCTCACCCTCCCTCTCCCCTCGCCCT CCCTCTCCCCTCGCCCTCCCTCTCCCCTCACCCTCACCCTCCCTCTCCCT CTCCCCTCGCCCTCCCTCTCCCCTCTCCCTCACCCTCCCTCTCCCCTCAC CCTCCCTCTCCCTCACCCTCCCTCTCCCCTCATCCTCCCTCTCCCTCACC CTCCCTCTCCCCTTACCCTCCCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0002 a0002c0008t0002	a0002c0008t0002g0016 a0002c0008t0002g0016	1	217	0.0046	379	c.249 others(398): Show c.2496-1574_2496-1573insGAGGGAGGGGGAGGGTAAGGGGAGAG GGAGGGTGAGGGAGAGGGAGGATGAGGGGAGAGGGAGGGTGAGGGAGAGG GAGGGTGAGGGGAGAGGGAGGGTGAGGGAGAGGGGAGAGGGAGGGCGAGG GGAGAGGGAGAGGGAGGGTGAGGGTGAGGGGAGAGGGAGGGCGAGGGGAG AGGGAGGGCGAGGGGAGAGGGAGGGTGAGGGAGAGAGAGGGTGAGGGGAG AGGGAGGGTGAGGGAGAGGGAGGGTGAGGGTGAGGGAGAGGGAGGGTGAG GGTGAGGGGAGAGGGAGGGCGAGGGGAGAGGGAGGGCGAGGGGAGAGGGA GGGTGAGGGAGAGAGAGGGTGAGGGGAGAGGGAGGGTGAGGGAGAGGGAG GGT	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SCARA5_chr8_27864883_27997673	27918987	G G	GGAAGGAA others(372): Show GGAAGGAAGAGGAGGAAGAGGAGAAAGAGGAGGAAAAGGAGGAGGAGGAG GAAGAGAAAAGGAGGAGGAGGAAAAGGAGGAGGAGGGGAAGGAGGAGGAG AAGAAAGGGGAGAAAGAGGAGGAAAAGGAGGAGGAGAAGGAGGAGGAAGA GAAAAGGAGGAGGAGAAGGGGAAGGAGGAGGAAAAGGAGAAGGAGGAACA GGAGGAGGAGAAGGAGGAGGAGGGGAAGGAGAAGGAGGAGGAGGAGGGGA AGGAGAAGAAGGAGGAGGAGGGGAAGGAGAAGGAGGAGGAGAGAAGGGAG GAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAG GGAGGAGGAGGAGAGAAGGGAGGAGGAGGA	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0018 a0002c0006t0018	a0002c0006t0018g0235 a0002c0006t0018g0235	1	42	0.0238	379	c.916 others(396): Show c.916+2583_916+2584insTCCTCCTCCTCCCTTCTCTCCTCCTCCT CCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCC TCCTCCCTTCTCTCCTCCTCCTTCTCCTTCCCCTCCTCCTCCTTCTTCTC CTTCCCCTCCTCCTCCTCCTTCTCCTTCCCCTCCTCCTCCTTCTCCTCCT CCTGTTCCTCCTTCTCCTTTTCCTCCTCCTTCCCCTTCTCCTCCTCCTTT TCTCTTCCTCCTCCTTCTCCTCCTCCTTTTCCTCCTCTTTCTCCCCTTTC TTCTCCTCCTCCTTCCCCTCCTCCTCCTTTTCCTCCTCCTCCTTTTCTCT TCCTCCTCCTCCTCCTTTTCCTCCTCTTTCTCCTCTTCCTCCTCTTCCTT C	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
SEL1L2_chr20_13844247_13995614	13934322	G G	GTATTCCA others(372): Show GTATTCCATATATATATATTCCATATATATATATATTCCATATATATATA TATTCCATATATATATATATTCCATATATATATATATTCCATATATATAT ATATTCCATATATATATATTCCATATATATATATATATTCCATATATATA TATATTCCATATATATATATATTCCATATATATATATATATTCCATATAT ATATATTCCATATATATATATATTCCATATATATATATTCCATATATATA TATATTCCATATATATATATATTCCATATATATATATTCCATATATATAT ATTCCATATATATATATTCCATATATATATATATTCCATATATATATATT CCATATATATATATATTCCATATATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	283	0.0035	379	c.115 others(396): Show c.115-2552_115-2551insTATATATATATGGAATATATATATATAT GGAATATATATATATGGAATATATATATATATGGAATATATATATATGGA ATATATATATATGGAATATATATATATGGAATATATATATATATGGAATA TATATATATATGGAATATATATATATGGAATATATATATATATGGAATAT ATATATATGGAATATATATATATATATGGAATATATATATATATGGAATA TATATATATATGGAATATATATATATATATGGAATATATATATATGGAAT ATATATATATATGGAATATATATATATATGGAATATATATATATATGGAA TATATATATATATGGAATATATATATATATGGAATATATATATATGGAAT A	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SLC25A12_chr2_171778405_171899244	171866626	C C	CGGGCGGG others(372): Show CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCTACCTCCCTCCCGGAAGGGGCGGCTGGCCG GGGGGGGGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGTGGGGGGCT GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTC GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGG CCGGCCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCGGACGGGGCGGCTGGCT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0246 a0002c0003t0003g0246	1	12	0.0833	379	c.209 others(396): Show c.209+2054_209+2055insAGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGGCC GGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCGAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGG CCAGCCCCCCACGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCCCCCC CCCGGCCAGCCGCCCCTTCCGGGAGGGAGGTAGGGGGGTCAGCCCCCCGC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCC C	SLC25A12	ENSG00000115840.14	transcript	ENST00000422440.7	protein_coding	3/17			chr2	TogoVar
SLC25A12_chr2_171778405_171899244	171866626	C C	CGGGCGGG others(372): Show CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCTACCTCCCTCCCGGAAGGGGCGGCTGGCCG GGGGGGGGGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGTGGGGGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTC GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGG CCGGCCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCGGACGGGGCGGCTGGCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01981.hp2 HG03942.hp1 others(1): Show HG00099.hp1 HG01981.hp2 HG03942.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0001 a0001c0001t0003 a0001c0001t0010	a0001c0001t0001g0078 a0001c0001t0003g0242 a0001c0001t0003g0244 others(1): Show a0001c0001t0001g0078 a0001c0001t0003g0242 a0001c0001t0003g0244 a0001c0001t0010g0248	4	15	0.2667	379	c.209 others(396): Show c.209+2054_209+2055insAGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGGCC GGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCGAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGC CAGCCCCCCACGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCCCCCCC CCCGGCCAGCCGCCCCTTCCGGGAGGGAGGTAGGGGGGTCAGCCCCCCGC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCC C	SLC25A12	ENSG00000115840.14	transcript	ENST00000422440.7	protein_coding	3/17			chr2	TogoVar
SLC25A12_chr2_171778405_171899244	171866630	C C	CGGGGGGC others(372): Show CGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGTTTGGCCGGGC GGGGGGCTGACCCCCCTACCTCCCTCCCGGAAGGGGCGGCTGGCCGGGGG GGGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGTGGGGGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTCGCCGGG CGGGGGGCTGACCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGC CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGGCTGGCTGGGCG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	312	0.0032	379	c.209 others(396): Show c.209+2050_209+2051insCGCCCAGCCAGCCGCCCCGTCCGGGAGG TGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTC TGGCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGGTCAGCCCCC CGCCCGGCGAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG CCCGGCCAGCCCCCCACGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCC CCCCCCCGGCCAGCCGCCCCTTCCGGGAGGGAGGTAGGGGGGTCAGCCCC CCGCCCGGCCAAACGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCC C	SLC25A12	ENSG00000115840.14	transcript	ENST00000422440.7	protein_coding	3/17			chr2	TogoVar
SLC37A3_chr7_140328752_140403530	140387809	A A	AATATAAA others(372): Show AATATAAATATATTATATATATTATATATAATATAAATATATTATATATA TTATATATAATATAAATATATTATATATATTATATATAAATATAAATATA TTATATATATTATATATAAAATATAAATATATTATATATATTATATATAA TATAAATATATTATATATATTATATATAATATAAATATATTATATATATT ATATATAATATAAATATATTATATATATTATATATAATATAAATATATTA TATATATTATATATAATATAAATATATTATATATATTATATATAATATAA ATATATTATATATATTATATATAATATAAATATATTATATATATTATATA TAATATAAATATATTATATATATTATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0118 a0001c0001t0002g0118	1	132	0.0076	379	c.-70 others(396): Show c.-70-5214_-70-5213insATATATAATATATATAATATATTTATAT TATATATAATATATATAATATATTTATATTATATATAATATATATAATAT ATTTATATTATATATAATATATATAATATATTTATATTATATATAATATA TATAATATATTTATATTATATATAATATATATAATATATTTATATTATAT ATAATATATATAATATATTTATATTATATATAATATATATAATATATTTA TATTATATATAATATATATAATATATTTATATTTTATATATAATATATAT AATATATTTATATTTATATATAATATATATAATATATTTATATTATATAT AATATATATAATATATTTATATTATATATAATATATATAATATATTTATA T	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SLC6A3_chr5_1387794_1450440	1414399	G G	GGGGGGCC others(372): Show GGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGA GGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGG GGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGG GTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTG GAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGC GGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACT GGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCC GGGAGGGGCAGGGCGGGGAAGGCGCTGGGT	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0234 a0001c0002t0009g0234	1	312	0.0032	379	c.115 others(396): Show c.1156+291_1156+292insACCCAGCGCCTTCCCCGCCCTGCCCCTC CCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCAC CCAGTGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCC CCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCC TCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCC ACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTT CCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCC CCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCAGGCCCC C	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	8/14			chr5	TogoVar
SLC9A3_chr5_465456_529449	487532	C C	CACCGCAC others(372): Show CACCGCACTGACACCGTGATCCAGACCGCACTGACACCCACCACACTGAC ACCCACCACACTGACACCCACCGCACTGACACCGTGATCCCGACCGCACT GACACCCACCGCACTGACACCGTGATCCCGACTGCACTGACACCCACCGC ACTGACACCGTGATCCAGACCGCACTGACACCCACCACACTGACACCCAC CGCACTGACACCCACCGCACTGACACCGTGATCCAGACCGCACTGACACC CACCGCACTGACACCGTGATCCAGACCGCACTGACACCCACCGCACTGAC ACCGTGATCCAGACTGCACTGACACCCACCACACTGACACCCACCGCACT GACACCCACCACACTGACACCGTGATCCAG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02004.hp2 NA19081.hp2 others(1): Show HG00642.hp2 HG02004.hp2 NA19081.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0012 a0001c0001t0007 a0001c0001t0012	a0001c0001t0007g0032 a0001c0001t0007g0033 a0001c0001t0007g0035 others(1): Show a0001c0001t0007g0032 a0001c0001t0007g0033 a0001c0001t0007g0035 a0001c0001t0012g0182	4	215	0.0186	379	c.675 others(394): Show c.675+783_675+784insCTGGATCACGGTGTCAGTGTGGTGGGTGTC AGTGCGGTGGGTGTCAGTGTGGTGGGTGTCAGTGCAGTCTGGATCACGGT GTCAGTGCGGTGGGTGTCAGTGCGGTCTGGATCACGGTGTCAGTGCGGTG GGTGTCAGTGCGGTCTGGATCACGGTGTCAGTGCGGTGGGTGTCAGTGCG GTGGGTGTCAGTGTGGTGGGTGTCAGTGCGGTCTGGATCACGGTGTCAGT GCGGTGGGTGTCAGTGCAGTCGGGATCACGGTGTCAGTGCGGTGGGTGTC AGTGCGGTCGGGATCACGGTGTCAGTGCGGTGGGTGTCAGTGTGGTGGGT GTCAGTGTGGTGGGTGTCAGTGCGGTCTGGATCACGGTGTCAGTGCGGT	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	3/16			chr5	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(372): Show AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGG GGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGA GGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGG GAGGGGAGGGGAGGGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0001 a0008c0010t0001	a0008c0010t0001g0116 a0008c0010t0001g0116	1	6	0.1667	379	c.138 others(398): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCC CTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar

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