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
CCDC63_chr12_110841987_110912535	110905917	A A	ATATATAA others(357): Show ATATATAATATATATTATATATAATATATATTATATTATATATAATATAT ATTATATATAATATATATTATATTATATATAATATATATTATATAAAATA TATATTATATTATATATAATATATATTATATAAAATATATATTATATTAT ATATAATATATATTATATTAAATATATATTATATTATATATAATATATAT TATATATAATATATATTATATTATATAATATATATTATATAAAATATATA TTATATTATATATAATATATATTTTATAAAATATATATTATATTATATAA TATATATTTTATAAAATATATATTATATTATATATAATATATATTATATA AAATATATATTATAT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0276 a0001c0001t0003g0276	1	288	0.0035	364	c.154 others(383): Show c.1546+1146_1546+1147insTAATATATATTATATTATATATAATA TATATTATATATAATATATATTATATTATATATAATATATATTATATAAA ATATATATTATATTATATATAATATATATTATATAAAATATATATTATAT TATATATAATATATATTATATTAAATATATATTATATTATATATAATATA TATTATATATAATATATATTATATTATATAATATATATTATATAAAATAT ATATTATATTATATATAATATATATTTTATAAAATATATATTATATTATA TAATATATATTTTATAAAATATATATTATATTATATATAATATATATTAT ATAAAATATATATTATATTATATAATATATATTATATA	CCDC63	ENSG00000173093.13	transcript	ENST00000308208.10	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC63_chr12_110841987_110912535	110905917	A A	ATATATAA others(357): Show ATATATAATATATATTATATATAATATATATTATATTATATATAATATAT ATTATATATAATATATATTATATTATATATAATATATATTATATAAAATA TATATTATATTATATATAATATATATTATATAAAATATATATTATATTAT ATATAATATATATTATATTAAATATATATTATATTATATATAATATATAT TATATATAATATATATTATATTATATAATATATATTATATAAAATATATA TTATATTATATATAATATATATTTTATAAAATATATATTATATTATATAA TATATATTTTATATAATATATATTATATTATATATAATATATATTATATA AAATATATATTATAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	288	0.0035	364	c.154 others(383): Show c.1546+1146_1546+1147insTAATATATATTATATTATATATAATA TATATTATATATAATATATATTATATTATATATAATATATATTATATAAA ATATATATTATATTATATATAATATATATTATATAAAATATATATTATAT TATATATAATATATATTATATTAAATATATATTATATTATATATAATATA TATTATATATAATATATATTATATTATATAATATATATTATATAAAATAT ATATTATATTATATATAATATATATTTTATAAAATATATATTATATTATA TAATATATATTTTATATAATATATATTATATTATATATAATATATATTAT ATAAAATATATATTATATTATATAATATATATTATATA	CCDC63	ENSG00000173093.13	transcript	ENST00000308208.10	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC88A_chr2_55282842_55424856	55384560	C C	CATATATA others(357): Show CATATATACGTATGTATGTGTATATATACATATATACGTATGTATGTGTA TATATACATATATACGTATGTATGTGTATATATACATATATACGTATGTA TGTGTATATATACATATATACGTATGTATGTGTATATATACATATATACG TATGTATGTGTATATATACATATATACGTATGTATGTGTATATATACATA TATACGTATGTATGTGTATATATACATATATACGTATGTATGTGTATATA TACATATATACGTATGTATGTGTATATATACATATATACGTATGTATGTG TATATATACATATATACGTATGTATGTGTATATATACACATATATACGTA TGTATGTGTATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	316	0.0032	364	c.273 others(381): Show c.273+4217_273+4218insATATATACACATACATACGTATATATGT GTATATATACACATACATACGTATATATGTATATATACACATACATACGT ATATATGTATATATACACATACATACGTATATATGTATATATACACATAC ATACGTATATATGTATATATACACATACATACGTATATATGTATATATAC ACATACATACGTATATATGTATATATACACATACATACGTATATATGTAT ATATACACATACATACGTATATATGTATATATACACATACATACGTATAT ATGTATATATACACATACATACGTATATATGTATATATACACATACATAC GTATATATGTATATATACACATACATACGTATATAT	CCDC88A	ENSG00000115355.18	transcript	ENST00000436346.7	protein_coding	3/32			chr2	TogoVar
CCDC88C_chr14_91266323_91422820	91293553	C C	CCCTCACC others(357): Show CCCTCACCTGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACC TTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAG CTCACCTTCCCATCCTCACCTGCCACAGCTCACCTTCCCATCCTCACCCG CCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCT CACCCGCCACAGCTCACCTTCCCATCCTCACCTGCCACAGCTCACCTTCC CATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCA CCTTCCCATCCTCACCTGCCACAGCTCACCTTCCCATCCTCACCCGCCAC AGCTCACCTTCCCAT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0006 a0004c0008t0006	a0004c0008t0006g0274 a0004c0008t0006g0274	1	284	0.0035	364	c.411 others(381): Show c.4112+619_4112+620insATGGGAAGGTGAGCTGTGGCGGGTGAGG ATGGGAAGGTGAGCTGTGGCAGGTGAGGATGGGAAGGTGAGCTGTGGCGG GTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTG TGGCAGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGT GAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGG GAAGGTGAGCTGTGGCAGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGA GGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGC GGGTGAGGATGGGAAGGTGAGCTGTGGCAGGTGAGG	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CD300A_chr17_74461634_74489794	74482697	C C	CCTTCCTT others(357): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTCTTTATTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0222 a0002c0003t0003g0222	1	424	0.0024	364	c.774 others(379): Show c.774+867_774+868insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTATTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTT	CD300A	ENSG00000167851.15	transcript	ENST00000360141.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
CD300A_chr17_74461634_74489794	74482697	C C	CCTTCCTT others(357): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTCCTTTCTTCCTTTC TTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTT TCCTTCTTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0209 a0002c0003t0004g0209	1	424	0.0024	364	c.774 others(379): Show c.774+867_774+868insCCTTCCTTCCTTCCTTCCTTCCTTCCTTTC TTCCTTTCTTCCTTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTT TCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	CD300A	ENSG00000167851.15	transcript	ENST00000360141.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
CD320_chr19_8297127_8313358	8299188	A A	AAAAAAAA others(357): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGCGAGGGGGAGGA GGGAGACTTTAAAAAAAGAAAAATAAAAAAAGTTTTTTTTGGCCAGGCAC TGTGGCTCACGCCTGTAATCCCAGTACTTTGGAAGGCCGAGGTGAGCGGA TTGCCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGAGAAGCCC CGTCTCTACTAAAAATACAAAAAATTAGCCAGGCATGATGGCACATGCCT ATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAG GAGGCAAAGTTTGCCGAGATGGAGCCATTGCACTCCAGCCTGGGCAACAA GAGGGAAACTCCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	390	0.0026	364	c.32 others(375): Show c.3274_*3275insGGTGGAGTTTCCCTCTTGTTGCCCAGGCTGGAGT GCAATGGCTCCATCTCGGCAAACTTTGCCTCCTGGGTTCAAGTGATTCTC CTGCCTCAGCCTCCCGAGTAGCTGGGATTATAGGCATGTGCCATCATGCC TGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGCTTCTCCATGTTGGTC AGGCTGGTCTCGAACTCCTGACCTCAGGCAATCCGCTCACCTCGGCCTTC CAAAGTACTGGGATTACAGGCGTGAGCCACAGTGCCTGGCCAAAAAAAAC TTTTTTTATTTTTCTTTTTTTAAAGTCTCCCTCCTCCCCCTCGCCTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	CD320	ENSG00000167775.11	transcript	ENST00000301458.10	protein_coding		2938		chr19	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(357): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC CTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCC CTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTC CCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTC CCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTAT CCCTCCTCCCTTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTT CCTCCCTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCC TCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0007 a0003c0004t0007	a0003c0004t0007g0018 a0003c0004t0007g0018	1	354	0.0028	364	c.69 others(375): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTC CCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCC CCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCC TCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCC CCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTACCCCCTT CCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCTCCTTCCTCCCTCCTCTC TTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CFAP61_chr20_20047532_20365698	20355425	C C	CTGAGTCA others(357): Show CTGAGTCACACTGAGGGGAGGTACTCACACTGTGAGGGGAGGTGGTCACA CTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTAGTGACCACTGTGAGCA GAGATGGTCACACTGTGAGGGGAGGGGGGTCACACTGTGAGGGGGAAGGT GGTCACACTGTGAGCAGGGGAGAAGGTCACACTAAGGGGAGGTAGTCACA CTGTGAGGGGAGGTGATCACACTAAGGGGAGGTGGTCACACTGTGAGAGG AGGAGGTGGTCACACTGTGAGGGGAGGTCACACTGAGGGGAGGTAGTGAC ACTATGAGCAGAGATGGTCACACTGTGAGGGGAGGTGGTCACACTGAGGG GAGGTAGTGACACTG	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0145 a0001c0001t0002g0145	1	236	0.0042	364	c.351 others(383): Show c.3514-4781_3514-4780insTCACACTGAGGGGAGGTACTCACACT GTGAGGGGAGGTGGTCACACTGTGAGGGGAGGTGGTCACACTGAGGGGAG GTAGTGACCACTGTGAGCAGAGATGGTCACACTGTGAGGGGAGGGGGGTC ACACTGTGAGGGGGAAGGTGGTCACACTGTGAGCAGGGGAGAAGGTCACA CTAAGGGGAGGTAGTCACACTGTGAGGGGAGGTGATCACACTAAGGGGAG GTGGTCACACTGTGAGAGGAGGAGGTGGTCACACTGTGAGGGGAGGTCAC ACTGAGGGGAGGTAGTGACACTATGAGCAGAGATGGTCACACTGTGAGGG GAGGTGGTCACACTGAGGGGAGGTAGTGACACTGTGAG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CIP2A_chr3_108544864_108594438	108575597	T T	CGTATATA others(357): Show CGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCATA TACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATA CACGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCA TATACATGTGTGTATATACACGTATATATACTCATATACGTGTGTATATA CACGTATATATACTCATATACGTGTGTATATACACGTATATATACTCATA TACGTGTGTATATACACGTATATATACTCATATACGTGTGTATATACACG TATATATACTCATATACGTGTGTATATACGTGTATATATACTCATATACA TGTGTGTATATACGT	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19066.hp2 NA19009.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0277 a0001c0001t0002g0278	2	372	0.0054	364	c.894 others(379): Show c.894+674_894+675insCGTATATACACACATGTATATGAGTATATA TACACGTATATACACACGTATATGAGTATATATACGTGTATATACACACG TATATGAGTATATATACGTGTATATACACACGTATATGAGTATATATACG TGTATATACACACGTATATGAGTATATATACGTGTATATACACACGTATA TGAGTATATATACGTGTATATACACACATGTATATGAGTATATATACGTG TATATACACACATGTATATGAGTATATATACGTGTATATACACACATGTA TATGAGTATATATACGTGTATATACACACATGTATATGAGTATATATACG TGTATATACACACATGTATATGAGTATATATACG	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108575617	T T	TGTGTGTA others(357): Show TGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATACACG TATATATACTCATATACATGTGTGTATATACACGTATATATACTCATATA CATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATACA CGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCATA TACATGTGTGTATATACACGTATATATACTCATATACGTGTGTATATACA CGTATATATACTCATATACGTGTGTATATACACGTATATATACTCATATA CGTGTGTATATACACGTATATATACTCATATACGTGTGTATATACGTGTA TATATACTCATATAC	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0016 a0001c0001t0006g0016	1	372	0.0027	364	c.894 others(379): Show c.894+653_894+654insGTATATGAGTATATATACACGTATATACAC ACGTATATGAGTATATATACGTGTATATACACACGTATATGAGTATATAT ACGTGTATATACACACGTATATGAGTATATATACGTGTATATACACACGT ATATGAGTATATATACGTGTATATACACACATGTATATGAGTATATATAC GTGTATATACACACATGTATATGAGTATATATACGTGTATATACACACAT GTATATGAGTATATATACGTGTATATACACACATGTATATGAGTATATAT ACGTGTATATACACACATGTATATGAGTATATATACGTGTATATACACAC ATGTATATGAGTATATATACGTGTATATACACAC	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CIT_chr12_119680791_119882320	119693031	T T	TAAGATGT others(357): Show TAAGATGTGTCCACGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCC CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0003 a0003	a0003c0033 a0003c0033	a0003c0033t0006 a0003c0033t0006	a0003c0033t0006g0176 a0003c0033t0006g0176	1	236	0.0042	364	c.588 others(383): Show c.5883-2578_5883-2577insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCTGGCGTGGACACATCTT	CIT	ENSG00000122966.18	transcript	ENST00000392521.7	protein_coding	46/47			chr12	TogoVar
CNOT1_chr16_58514951_58634826	58586399	G G	GGAGGGGA others(357): Show GGAGGGGAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGG CAGGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGG GAGGGCAGGGGGAGGGGAAGGGAAGGGCAGGGGAGGGGGAGGGGGACTGG AGGGGAGGGGACGGGAGGGGGGAGGGGGAGGGGAGGGGGACTGGAGGGGA GGGGAGGGGAAGGGGAAGGGAAGGGGAGGGGAAGGGGATGGGAGGGGAAG GGGAGGAGAGGGAGAGGGGAAGGGGAGGGGAGGGGAAGGGGAAGGGAAGG GGAGGGAAGGGGAGGGAAGGGAAGGGAAGGGGAGGGGAGGGGAGGGGAAG GGGAGGGGAGGGGAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02486.hp1 HG02615.hp2 others(8): Show HG02257.hp2 HG02486.hp1 HG02615.hp2 HG02630.hp2 HG02809.hp2 HG02818.hp2 HG02965.hp1 HG03195.hp2 HG03209.hp1 HG03540.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(8): Show a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0189 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0218	11	308	0.0357	364	c.637 others(379): Show c.637+145_637+146insTTCCCCTCCCCTCCCCTTCCCCTCCCCTCC CCTCCCCTTCCCTTCCCTTCCCTCCCCTTCCCTCCCCTTCCCTTCCCCTT CCCCTCCCCTCCCCTTCCCCTCTCCCTCTCCTCCCCTTCCCCTCCCATCC CCTTCCCCTCCCCTTCCCTTCCCCTTCCCCTCCCCTCCCCTCCAGTCCCC CTCCCCTCCCCCTCCCCCCTCCCGTCCCCTCCCCTCCAGTCCCCCTCCCC CTCCCCTGCCCTTCCCTTCCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCC TGCCCTCCCCTTCCCCTCCCCTTCCCCTCCCCCTGCCCTCCCCTTCCCCT CCCCCTGCCCTCCCCTTCCCCTCCCCCTCCCCTC	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	7/48			chr16	TogoVar
COL21A1_chr6_56051590_56252580	56098440	A A	AATATATA others(357): Show AATATATAAATATATATAAATATATATAAATATATAAATATATATATAAA TATATATAAATATATAAATATATATATAAATATATATAAATATATAAATA TATATATAAATATATATAAATATATAAATATATATATAAATATATATAAA TATATAAATATATATATAAATATATAAATATATAAATATATATGTAAATA TATAAATATATAAATATATATGTAAATATATAAATATATATAAATATATA TATAAATATATATAAATATATAAATATATATAAATACATATGTAAATATA TAAATATATATAAATATATAAATATATATAGATATATATGTAAATATATA TAAATATATATAGAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03130.hp2 HG03041.hp1 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0099 a0001c0002t0003g0080 a0001c0002t0001g0099 a0001c0002t0003g0080	2	264	0.0076	364	c.181 others(383): Show c.1812+3031_1812+3032insATCTATATATATTTATATATATTTAC ATATATATCTATATATATTTATATATTTATATATATTTATATATTTACAT ATGTATTTATATATATTTATATATTTATATATATTTATATATATATTTAT ATATATTTATATATTTACATATATATTTATATATTTATATATTTACATAT ATATTTATATATTTATATATTTATATATATATTTATATATTTATATATAT TTATATATATATTTATATATTTATATATATTTATATATATATTTATATAT TTATATATATTTATATATATATTTATATATTTATATATATTTATATATAT ATTTATATATTTATATATATTTATATATATTTATATAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL21A1_chr6_56051590_56252580	56098448	T T	TATAAATA others(357): Show TATAAATATATATAAATATATAAATATATATAAATATATATATAAATATA TATAAATATATAAATATATATAAATATATATATAAATATATATAAATATA TAAATATATATGTAAATATATAAATATATATAAATATATATATAAATATA TATATAAATATATATAAATATATAAATATATATAAATACATATGTAAATA TATAAATATATATAAATATATAAATATATATAGATATATATAAATATATA CAAATATATATAGATATATATATAAATATATATAAATATATATAGATATA TATATAAATATATATAAATATATATAGATATATATAAATATATATAAATA TATAGATATATATAA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0094 a0001c0002t0019g0094	1	264	0.0038	364	c.181 others(383): Show c.1812+3023_1812+3024insTTATATATATCTATATATTTATATAT ATTTATATATATCTATATATATTTATATATATTTATATATATATCTATAT ATATTTATATATATTTATATATATATCTATATATATTTGTATATATTTAT ATATATCTATATATATTTATATATTTATATATATTTATATATTTACATAT GTATTTATATATATTTATATATTTATATATATTTATATATATATTTATAT ATATATTTATATATATTTATATATTTACATATATATTTATATATTTATAT ATATTTATATATATATTTATATATATTTATATATTTATATATATTTATAT ATATATTTATATATATTTATATATTTATATATATTTAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL4A1_chr13_110143963_110312157	110255665	A A	AGGCAGGA others(357): Show AGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGG AAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGCAGGC AGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAG GGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAG GAAGGGAGGAGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGG CAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAA GGGAGGAGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAA GGCAGGAAGGGAGGG	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0002 a0003c0014t0002	a0003c0014t0002g0332 a0003c0014t0002g0332	1	344	0.0029	364	c.85- others(381): Show c.85-12932_85-12931insCCCTCCCTTCCTGCCTTCCCCCTCCCTT CCTGCCTTCCCCCTTCCCTTCCTGCCTTCCTCCTCCCTTCCTGCCTTCCC CCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCC TGCCTTCCCCCTCCCTTCCTGCCTTCCTCCTCCCTTCCTGCCTTTCCCCT CCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGC CTGCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCCCCTCC CTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTT TCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110255703	G G	GGGGCAGG others(357): Show GGGGCAGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGGGAGGGGGAAG GCAAGAAGGGAGGGGGCAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAG GGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGG AAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGA AGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGG AAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGG CAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGA GGGGGAAGGCAGGAA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0269 a0002c0002t0002g0269	1	344	0.0029	364	c.85- others(381): Show c.85-12970_85-12969insTTCCTGCCTTCCCCCTCCCTTCCTGCCT TCCCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTTCC CTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTT CCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTC CTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCC TCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCC TTTCCCCTCCCTTCCTGCCTGCCCCCTCCCTTCTTGCCTTCCCCCTCCCT TCCTGCCTGCCCCCTTCCCTTCCTGCCTGCCTGCCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110255704	G G	GGGCAGGC others(357): Show GGGCAGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGAGGAAGG CAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGG GGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGG AAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGA AAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAG GGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAG GCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGA GGGGGAAGGCAGGAA	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0004 a0004	a0004c0053 a0004c0053	a0004c0053t0001 a0004c0053t0001	a0004c0053t0001g0055 a0004c0053t0001g0055	1	344	0.0029	364	c.85- others(381): Show c.85-12971_85-12970insTTCCTGCCTTCCCCCTCCCTTCCTGCCT TCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCT TCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCC CCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCC TGCCTTCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTCCCCC TCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGC CTTTCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCTCCTCCC TTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCTGCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110255708	A A	AGGCAAGA others(357): Show AGGCAAGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGG GAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAG GCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAA GGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAG GAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGG GGAAGGCAAGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAAGA AGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGG AAGGCAAGAAGGGAG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0004 a0004	a0004c0071 a0004c0071	a0004c0071t0001 a0004c0071t0001	a0004c0071t0001g0084 a0004c0071t0001g0084	1	344	0.0029	364	c.85- others(381): Show c.85-12975_85-12974insCTCCCTTCTTGCCTTCCCCCTCCCTTCC TGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCTTGCCTTCCCC CTCCCTTCCTGCCTTCCCCCTTCCCTTCTTGCCTTCCCCCTCCCTTCCTG CCTTCCCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCT CCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCC TTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCC TTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTT CCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCTTGCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
CRLF2_chrX_1185490_1217649	1198155	C C	CGAAGGCA others(357): Show CGAAGGCAGGACACCCTCCCTCCCACCTCCCAGGAAGGCAGGACACCCTC CCTCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCCACCTCCCAGGAA GGCAGGACACCCTCCCTCCCACCTCGAAGGCAGGACACCCTCCCTCCCAC CTCCCAGGAAGGCAGGACACCCTCCCTCCCACCTCGAAGGCAGGACACCC TCCCTCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCCACCTCGAAGG CAGGACACCCTCCCTCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCC ACCTCGAAGGCAGGACACCCTCCCTCCCACCTCCCAGGAAGGCAGGACAC CCTCCCTCCCACCTA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0017 a0002c0004t0001g0017	1	167	0.0060	364	c.646 others(379): Show c.646+406_646+407insTAGGTGGGAGGGAGGGTGTCCTGCCTTCCT GGGAGGTGGGAGGGAGGGTGTCCTGCCTTCGAGGTGGGAGGGAGGGTGTC CTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTCGAGGTGGGAG GGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTC GAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTG TCCTGCCTTCGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGG AGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCT TCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTC	CRLF2	ENSG00000205755.13	transcript	ENST00000400841.8	protein_coding	5/7			chrX	TogoVar
CROCC2_chr2_240901336_240998311	240924133	T T	TCCCCACA others(357): Show TCCCCACACTAACCCAGCCCCCCACACTAACCCGGCCCCCCACACTAACC CAGTCCCCACACTAACCCAGCCCCCCACACTACCCCGGCCCCCACACTGA CCCAGCCCCCACACTGACCCGGCCCCCCACACTGACCCGGCCCCCCACAC TAACCCAGTCCCCACACTAACCCAGTCCCCCACACTAACCCAGTCCCCAC ACTAACCCAGTCCCCACACTAACCCAGTCCCCACACTAACCCAGCCCCCA CACTAACCCAGCCCCCACACTAATCCGGCCCCCAACACTAACCCGGCCCC CACACTGACCCAGCCCCCACACTAATCCGGCCCCCACACTAATCCGGCCC CCACACTGACCCGGC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0159 a0001c0001t0003g0159	1	350	0.0029	364	c.488 others(381): Show c.488+1497_488+1498insAACCCAGCCCCCCACACTAACCCGGCCC CCCACACTAACCCAGTCCCCACACTAACCCAGCCCCCCACACTACCCCGG CCCCCACACTGACCCAGCCCCCACACTGACCCGGCCCCCCACACTGACCC GGCCCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCCACACTAA CCCAGTCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCACACTA ACCCAGCCCCCACACTAACCCAGCCCCCACACTAATCCGGCCCCCAACAC TAACCCGGCCCCCACACTGACCCAGCCCCCACACTAATCCGGCCCCCACA CTAATCCGGCCCCCACACTGACCCGGCCCCCACACT	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924706	C C	CGGCCCCC others(357): Show CGGCCCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCACACTAA CCCAGTCCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCACACT AACCCAGTCCCCACACTAACCCAGCCCCCACACTAATCCGGCCCCCCACA CTACCCCGGCCCCCACACTGACCCAGCCCCCACACTGACCCGGCCCCCCA CACTGACCCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCC CACACTAACCCAGTCCCCCACACTAACCCAGTCCCCACACTAACCCAGTC CCCACACTAACCCAGTCCCCACACTAACCCAGCCCCCACACTAATCCGGC CCCCAACACTAACCT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0002 a0008c0008t0002	a0008c0008t0002g0296 a0008c0008t0002g0296	1	350	0.0029	364	c.489 others(381): Show c.489-1011_489-1010insCACACTAACCCAGTCCCCACACTAACCC AGTCCCCACACTAACCCAGTCCCCCACACTAACCCAGTCCCCACACTAAC CCAGTCCCCACACTAACCCAGTCCCCACACTAACCCAGCCCCCACACTAA TCCGGCCCCCCACACTACCCCGGCCCCCACACTGACCCAGCCCCCACACT GACCCGGCCCCCCACACTGACCCGGCCCCCCACACTAACCCAGTCCCCAC ACTAACCCAGTCCCCACACTAACCCAGTCCCCCACACTAACCCAGTCCCC ACACTAACCCAGTCCCCACACTAACCCAGTCCCCACACTAACCCAGCCCC CACACTAATCCGGCCCCCAACACTAACCTGGCCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CSF2RA_chrX_1263814_1314935	1302685	C C	CTTTTTAT others(357): Show CTTTTTATTTATTTATTTATTTATTTTGAGATGGAGTTTCGCTGTGTCAC CCAGGCTGGAGTTCAATGGCACGATCTTGGCTCACTGCAACCTCCGTCTC CCAGGCTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTACGATTAC AGACATGCATCATGCTTGGCCATTTTTTAAATATTTTTATTTATTTATTT ATTTTGAGACAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAATGGCAC GATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTG CCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGCATCACGCTTGGCCA ATTTTTGTATTTTTA	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0052 a0001c0002t0001g0052	1	159	0.0063	364	c.947 others(380): Show c.947-1176_947-813dupTCAATGGCACGATCTTGGCTCACTGCAAC CTCCGTCTCCCAGGCTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGC TACGATTACAGACATGCATCATGCTTGGCCATTTTTTAAATATTTTTATT TATTTATTTATTTTGAGACAGGGTCTCACTCTGTCACCCAGGCTGGAGTG CAATGGCACGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCG ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGCATCAC GCTTGGCCAATTTTTGTATTTTTATTTTTATTTATTTATTTATTTATTTT GAGATGGAGTTTCGCTGTGTCACCCAGGCTGGAGT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	10/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CYLC1_chrX_83856146_83891698	83878382	A A	AATATATA others(357): Show AATATATAAATATATATATAAATATATATAAATATATATAAATATATATA AATATATATATAAATATATATAAATATATATAAATATATATATAAATATA TAAATATATATAAATATATATATAAATATATAAATATATATAAATATATA TATAAATATATAAATATATATAAATATATATAAATATATATATAAATATA TAAATATATATAAATATATATAAATATATAAATATATATATAAATATATA TATAAATATATATAAATATATATAAATATATATAAATATATAAATATATA TATAAATATATAAATATATAAATATATGTAAATATATATAAATATATATA TAAATATATATAAAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0182 a0002c0002t0001g0182	1	208	0.0048	364	c.192 others(383): Show c.1923+3758_1923+3759insAATATATATATAAATATATATAAATA TATATAAATATATATAAATATATATATAAATATATATAAATATATATAAA TATATATATAAATATATAAATATATATAAATATATATATAAATATATAAA TATATATAAATATATATATAAATATATAAATATATATAAATATATATAAA TATATATATAAATATATAAATATATATAAATATATATAAATATATAAATA TATATATAAATATATATATAAATATATATAAATATATATAAATATATATA AATATATAAATATATATATAAATATATAAATATATAAATATATGTAAATA TATATAAATATATATATAAATATATATAAATATATATA	CYLC1	ENSG00000183035.13	transcript	ENST00000329312.5	protein_coding	4/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
DCDC2_chr6_24166755_24363059	24238175	A A	AGGGAGGG others(357): Show AGGGAGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAAT GAAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGAATGGAGGAATGG AGGGATGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGTGGAAGGGGGA GGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGA GGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGAAGGGGAGGGGGAGGGGAA GGGGAAGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGGAGGGGAAGGGG GAGACAGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0131 a0002c0002t0004g0131	1	216	0.0046	364	c.923 others(383): Show c.923-33074_923-33073insCCTCCCCTCTGTCTCCCCCTTCCCCT CCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCTTCCCCTTCCCCTCCCC CTCCCCTTCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCTCCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTTCCA CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCATCCCTCCATTCCTCCA TTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCATTCCTCCCTC CCTCCCTTCATTCCTCCCTCCCTCCCTTCCTCCCTCCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DCDC2_chr6_24166755_24363059	24238175	A A	AGGGAGGG others(357): Show AGGGAGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAAT GAAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGAATGGAGGAATGG AGGGATGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGTGGAAGGGGGA GGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGA GGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGG GGGAGGGGGAGGGGGGAGGGGGGGGGAGGGGAAGGGGAGGGGGAGGGGAA GGGGAAGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGGAGGGGAAGGGG GAGACAGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG03139.hp2 HG01255.hp2 HG03139.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0081 a0003c0003t0002g0082 a0003c0003t0002g0081 a0003c0003t0002g0082	2	216	0.0093	364	c.923 others(383): Show c.923-33074_923-33073insCCTCCCCTCTGTCTCCCCCTTCCCCT CCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCTTCCCCTTCCCCTCCCC CTCCCCTTCCCCTCCCCCCCCCTCCCCCCTCCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCTCCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTTCCA CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCATCCCTCCATTCCTCCA TTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCATTCCTCCCTC CCTCCCTTCATTCCTCCCTCCCTCCCTTCCTCCCTCCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DIABLO_chr12_122202668_122231052	122210640	A A	AAGTGCTG others(357): Show AAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGGTGATATATCAAC TTTTTAAATGATTTTGTTGTCTCTTCCTTTTGTCACCTGGTACAAAATTT ACTGTGTGTCTTAGAAGAGTATGTAAATTTAGAGGGAGGGGGCAAAGTTT TATATTTAGTATATATACATTTGTTAGGTGTTTAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCAGGTGATATATCAACTTTTTAAATGATTTTGTT GTCTCTTCCTTTTGTCACCTGGTACAAAATTTACTGTGTGTCTTAGAAGA GTATGTAAATTTAGAGGGAGGGGGCAAAGTTTTATATTTAGTATATATAC ATTTGTTAGGTGTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03041.hp2 NA18522.hp2 HG01243.hp2 HG03041.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0026 a0001c0001t0006g0054 a0001c0001t0006g0026 a0001c0001t0006g0054	3	380	0.0079	364	c.524 others(381): Show c.524-2064_524-2063insAAACACCTAACAAATGTATATATACTAA ATATAAAACTTTGCCCCCTCCCTCTAAATTTACATACTCTTCTAAGACAC ACAGTAAATTTTGTACCAGGTGACAAAAGGAAGAGACAACAAAATCATTT AAAAAGTTGATATATCACCTGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTAAACACCTAACAAATGTATATATACTAAATATAAAACTTTGCCCCC TCCCTCTAAATTTACATACTCTTCTAAGACACACAGTAAATTTTGTACCA GGTGACAAAAGGAAGAGACAACAAAATCATTTAAAAAGTTGATATATCAC CTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT	DIABLO	ENSG00000184047.21	transcript	ENST00000464942.7	protein_coding	5/5			chr12	TogoVar
DIP2C_chr10_269201_694668	608556	C C	CCCACACA others(357): Show CCCACACACACACATCCCCCCCACACACACACATCCCCCCCCACACACAC ACATCCCCCCCCACACACACACATCCCCCCCCACACACACACATCCCCCC CCACACACACACATCCCCCCCCACACACACACATCCCCCCCACACACACA CATCCCCCCCCACACACACACATCCCCCCCCACACACACACATCCCCCCC CACACACACACATCCCCCCCACACACACACATCCCCCCCACACACACACA TCCCCCCCCACACACACATCCCCCCCCACACACACATCCCCCCCCACACA CACACATCCCCCCCCACACACACACATCCCCCCACACACACACACATCCC CCCCCACACACACAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0009 a0001c0005t0001g0009	1	88	0.0114	364	c.85+ others(381): Show c.85+80937_85+80938insATGTGTGTGTGGGGGGGGATGTGTGTGT GTGTGGGGGGATGTGTGTGTGTGGGGGGGGATGTGTGTGTGTGGGGGGGG ATGTGTGTGTGGGGGGGGATGTGTGTGTGGGGGGGGATGTGTGTGTGTGG GGGGGATGTGTGTGTGTGGGGGGGATGTGTGTGTGTGGGGGGGGATGTGT GTGTGTGGGGGGGGATGTGTGTGTGTGGGGGGGGATGTGTGTGTGTGGGG GGGATGTGTGTGTGTGGGGGGGGATGTGTGTGTGTGGGGGGGGATGTGTG TGTGTGGGGGGGGATGTGTGTGTGTGGGGGGGGATGTGTGTGTGTGGGGG GGGATGTGTGTGTGTGGGGGGGATGTGTGTGTGTGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DMD_chrX_31114222_33216549	32554923	A A	AAGAAAGA others(357): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGGAAAGAAAGAAAGGAAAGAAAGAAAGA AAGAGAGAGGGAGAG	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0097 a0001c0002t0013g0097	1	126	0.0079	364	c.199 others(383): Show c.1993-9590_1993-9589insCTCTCCCTCTCTCTTTCTTTCTTTCT TTCCTTTCTTTCTTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	16/78			chrX	TogoVar
DNAH12_chr3_57288700_57549344	57390424	A A	AATATATA others(357): Show AATATATATATATATATATATATACACATACATATACATATATACACATA CATATACATATATACACATACATATACATATATACACATACATATATATA TACATATATATATACATATATATATACGTATATATATATACGTGTATATA TATATACATATATATATATACGTGTGTATATATATACACATATATATATA CACGTATATATATACACATATATATATATACACATATATATATACACACA TATATATATATACACACATATATATATATACACATATATATATATACACA CATATATATATATACACATATATATATATATACATATATATATATATATA TATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0002 a0002	a0002c0023 a0002c0023	a0002c0023t0001 a0002c0023t0001	a0002c0023t0001g0166 a0002c0023t0001g0166	1	266	0.0038	364	c.730 others(383): Show c.7305+1447_7305+1448insATATATATATATATATATATATATAT ATATATGTATATATATATATATGTGTATATATATATATGTGTGTATATAT ATATATGTGTATATATATATATGTGTGTATATATATATATGTGTGTATAT ATATATGTGTATATATATATATGTGTATATATATACGTGTATATATATAT GTGTATATATATACACACGTATATATATATATGTATATATATATACACGT ATATATATATACGTATATATATATGTATATATATATGTATATATATATGT ATGTGTATATATGTATATGTATGTGTATATATGTATATGTATGTGTATAT ATGTATATGTATGTGTATATATATATATATATATATAT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57390448	T T	TACACATA others(357): Show TACACATACATATACATATATACACATACATATACATATATACACATACA TATACATATATACACATACATATATATATACATATATATATACATATATA TATACGTATATATATATACGTGTATATATATATACATATATATATATACG TGTGTATATATATACACATATATATATACACGTATATATATACACATATA TATATATACACATATATATATATACACATATATATATATACACATATATA TATATACACACATATATATATATACACATATATATATATATACACATATA TATATATATACACATATATATATATATATATATATATATATATATGTATA TATATATATATATAC	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0134 a0002c0002t0001g0134	1	266	0.0038	364	c.730 others(383): Show c.7305+1423_7305+1424insGTATATATATATATATATACATATAT ATATATATATATATATATATATATATGTGTATATATATATATATGTGTAT ATATATATATATGTGTATATATATATATGTGTGTATATATATATATGTGT ATATATATATATGTGTATATATATATATGTGTATATATATATATGTGTAT ATATATACGTGTATATATATATGTGTATATATATACACACGTATATATAT ATATGTATATATATATACACGTATATATATATACGTATATATATATGTAT ATATATATGTATATATATATGTATGTGTATATATGTATATGTATGTGTAT ATATGTATATGTATGTGTATATATGTATATGTATGTGT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNM2_chr19_10713079_10836903	10758363	T T	TTCCCTCC others(357): Show TTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCTTTCCC TCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTC CCTCCTTCCTTCCCTCCTTCCTTCCTCCCTCCTTCCTTCCTCCCTCCTTC CTTCCCTCCCTTCCTTCCCTCCCTCCTCCTTCCCTCCCTCCTTCCTTCCT CCTTCCTTCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCC TCCTCCTTCCTTCCCTCCCTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCC TTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCCTCCCTCCTT CCCTCCCTCCTTCCC	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	278	0.0036	364	c.162 others(381): Show c.162-1332_162-1331insTTTCCCTCCTTCCCTCCCTCCTTCCTTC CCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCT TCCTCCCTCCTTCCTTCCTCCCTCCTTCCTTCCCTCCCTTCCTTCCCTCC CTCCTCCTTCCCTCCCTCCTTCCTTCCTCCTTCCTTCCTCCCTCCTTCCC TCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCTCCTTCCTTCCCTCCCTCC TTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCT CCTTCCTTCCCTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCCTCCCTCC CTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCC	DNM2	ENSG00000079805.19	transcript	ENST00000389253.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
DPEP1_chr16_89608642_89643433	89619208	C C	CTCCCTGC others(357): Show CTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCC CTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCC CCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTG CAGCTCCCTGCCCTCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCT CCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTG CCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCC TGCAGCTCCCTGCCCTCCCTGCTCCCTCCCTGCAGCCCCCTGCCCCCCTG CTCCCCTCCCTGCAG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	250	0.0040	364	c.-10 others(383): Show c.-107+5489_-107+5490insTCCCTGCCCCCCCTGCTCCCCTCCCT GCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGC TCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCC TGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCTCCCTGCTCCCCTC CCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCT GCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTC CCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCTCCCTGCTCCCT CCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAG	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10			chr16	TogoVar
DPYSL2_chr8_26509031_26663175	26556265	A A	ATATATAC others(357): Show ATATATACTATATATATATAGTATATATATAGTATATATATAGTATATAT ATAGTATATATATAGTATATATATAGTATATATATACTATATATATAGTA TATATATATAGTATATATATAGTATATATATAGTATATATATAGTATATA TATAGTATATATATAGTATATATATAGTATATATATAGTATATATATATA GTATATATATAGTATATATATAGTATATATATATAGTATATATATAGTAT ATATATATAGTGTATATATATAGTATATATATATAGTGTATATATATAGT ATATATATAGTATATATATAGTATATATAGTATATATGTATATATATATA GTATATATATAGTAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03540.hp1 NA18906.hp1 others(1): Show HG03225.hp1 HG03540.hp1 NA18906.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0213 a0001c0001t0008g0207 a0001c0001t0008g0208 others(1): Show a0001c0001t0002g0213 a0001c0001t0008g0207 a0001c0001t0008g0208 a0001c0001t0008g0215	4	316	0.0127	364	c.355 others(383): Show c.355-25704_355-25703insTATATACTATATATATATAGTATATA TATAGTATATATATAGTATATATATAGTATATATATAGTATATATATAGT ATATATATACTATATATATAGTATATATATATAGTATATATATAGTATAT ATATAGTATATATATAGTATATATATAGTATATATATAGTATATATATAG TATATATATAGTATATATATATAGTATATATATAGTATATATATAGTATA TATATATAGTATATATATAGTATATATATATAGTGTATATATATAGTATA TATATATAGTGTATATATATAGTATATATATAGTATATATATAGTATATA TAGTATATATGTATATATATATAGTATATATATAGTAT	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13			chr8	TogoVar
DYSF_chr2_71448561_71691763	71618151	G G	GGTGTGTG others(357): Show GGTGTGTGTGTGTGTGGTAGAGGTGGGGTATAAGTGTGTGTGGTAGAGAT GGGGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGCG TGTGTGGTAGAGGTGGTGTGTGTGTGTGTGTGTGTGTGGTAGAGGTGGGG TATAAGTGTGTGTGGTAGAGATGGGGTGTGTGTGTGTGGTAGAGGTGGGG TGTGTGTGTGGTAGAGGTGGCGTGTGTGGTAGAGGTGGTGTGTGTGTGTG TGTGTGTGTGGTAGAGGTGGGGTATAAGTGTGTGTGGTAGAGATGGGGTG TGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGCGTGTGTG GTAGAGGTGGTGTGT	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0151 a0001c0002t0002g0151	1	192	0.0052	364	c.441 others(383): Show c.4410+4756_4410+4757insGTAGAGGTGGGGTATAAGTGTGTGTG GTAGAGATGGGGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAG AGGTGGCGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGTGTGTGTGGTAG AGGTGGGGTATAAGTGTGTGTGGTAGAGATGGGGTGTGTGTGTGTGGTAG AGGTGGGGTGTGTGTGTGGTAGAGGTGGCGTGTGTGGTAGAGGTGGTGTG TGTGTGTGTGTGTGTGTGGTAGAGGTGGGGTATAAGTGTGTGTGGTAGAG ATGGGGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGG CGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGTGTGTG	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	40/54		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71618151	G G	GGTGTGTG others(357): Show GGTGTGTGTGTGTGTGGTAGAGGTGGGGTATAAGTGTGTGTGGTAGAGAT GGGGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGCG TGTGTGGTAGAGGTGGTGTGTGTGTGTGTGTGTGTGTGGTAGAGGTGGGG TATAAGTGTGTGTGGTAGAGATGGGGTGTGTGTGTGTGGTAGAGGTGGGG TGTGTGTGTGGTAGAGGTGGCGTGTGTGGTAGAGGTGGTGTGTGTGTGTG TGTGTGTGTGGTAGAGGTGGGGTATAAGTGTGTGTGGTAGAGATGGGGTG TGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGCGTGTGTG GTAGAGGTGGTGTGT	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0181 a0001c0002t0002g0181	1	208	0.0048	364	c.446 others(383): Show c.4465-2381_4465-2380insGTAGAGGTGGGGTATAAGTGTGTGTG GTAGAGATGGGGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAG AGGTGGCGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGTGTGTGTGGTAG AGGTGGGGTATAAGTGTGTGTGGTAGAGATGGGGTGTGTGTGTGTGGTAG AGGTGGGGTGTGTGTGTGGTAGAGGTGGCGTGTGTGGTAGAGGTGGTGTG TGTGTGTGTGTGTGTGTGGTAGAGGTGGGGTATAAGTGTGTGTGGTAGAG ATGGGGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGG CGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGTGTGTG	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	40/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
EIPR1_chr2_3183970_3382818	3316029	C C	CACCACCA others(357): Show CACCACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACC ACCATCCCCACACACACCCCCTACCACCATCCTCACCACCATCCCCATCC ACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCA CCATCCTCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCAC CATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATACAC ACCCCCACCACCATCCTCACCACCATCCCCATACACACCCCCACCACCAT CCTCACCACCATCCCCATACACACCCCCACCACCATCCTCACCACCATCC CCATACACACCCCCT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	250	0.0040	364	c.259 others(383): Show c.259+21987_259+21988insAGGGGGTGTGTATGGGGATGGTGGTG AGGATGGTGGTGGGGGTGTGTATGGGGATGGTGGTGAGGATGGTGGTGGG GGTGTGTATGGGGATGGTGGTGAGGATGGTGGTGGGGGTGTGTATGGGGA TGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGT GGTGGTAGGGGGTGTGGATGGGGATGGTGGTGAGGATGGTGGTAGGGGGT GTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATG GTGGTGAGGATGGTGGTAGGGGGTGTGTGTGGGGATGGTGGTGATGGTGG TGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGT	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
ELOVL6_chr4_110040846_110203615	110084414	C C	CATGATAT others(357): Show CATGATATATGACATATGACATACATGATATATCACATATATCATATATG ATATATCACATATATCATATATGATATATCACATATCATATATGATATAT CACATATATCATATATGATATATCACATATATCATATATGATATATCACA TATATCATATATGATATATCACATATATCATATATATCACATATATCATA TATATCACATATATCATATATATCACATATATCATATATATCACATATAT CATATATATCACATATATCATATATGATATATCACATATATCATATATGA TATATCACATATATCATATATGATATATCACATATATCATATATGATATA TCACATATATCATAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0265 a0001c0001t0029g0265	1	338	0.0030	364	c.221 others(383): Show c.221+21082_221+21083insATATGATATATGTGATATATCATATA TGATATATGTGATATATCATATATGATATATGTGATATATCATATATGAT ATATGTGATATATCATATATGATATATGTGATATATATGATATATGTGAT ATATATGATATATGTGATATATATGATATATGTGATATATATGATATATG TGATATATATGATATATGTGATATATCATATATGATATATGTGATATATC ATATATGATATATGTGATATATCATATATGATATATGTGATATATCATAT ATGATATGTGATATATCATATATGATATATGTGATATATCATATATGATA TATGTGATATATCATGTATGTCATATGTCATATATCAT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
FAM135B_chr8_138125023_138502261	138206341	C C	CCACAGCT others(357): Show CCACAGCTCTATCATCCCCTCCACCTACCCACAGCTCTATCATCCCCTCC ACCTACGCACAACTCCAGCATCCCCTCCACCTACGCACAACTCCAGCATC CCCTCCACCTACACACAACTCTATCATCCCCTCCACCTACACACAACTCC AGCATCCCCTCCATCTACCCACAGCTCTATCATCCCCTCCACCTACACAC AACTCTATCATTCCCTCCACCTACACACAACCCTATCATCTCCTCCACCT ACACACAACTCCAGCATCCCCTCCACCTACCCACAGCTCTATCATCCCCT CCACCTACACACAACTCTATCATTCCCTCCACCTACACACAACCCTATCA TCTCCTCCACCTACA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0003 a0003	a0003c0021 a0003c0021	a0003c0021t0033 a0003c0021t0033	a0003c0021t0033g0143 a0003c0021t0033g0143	1	212	0.0047	364	c.670 others(381): Show c.670-8673_670-8672insTGTAGGTGGAGGAGATGATAGGGTTGTG TGTAGGTGGAGGGAATGATAGAGTTGTGTGTAGGTGGAGGGGATGATAGA GCTGTGGGTAGGTGGAGGGGATGCTGGAGTTGTGTGTAGGTGGAGGAGAT GATAGGGTTGTGTGTAGGTGGAGGGAATGATAGAGTTGTGTGTAGGTGGA GGGGATGATAGAGCTGTGGGTAGATGGAGGGGATGCTGGAGTTGTGTGTA GGTGGAGGGGATGATAGAGTTGTGTGTAGGTGGAGGGGATGCTGGAGTTG TGCGTAGGTGGAGGGGATGCTGGAGTTGTGCGTAGGTGGAGGGGATGATA GAGCTGTGGGTAGGTGGAGGGGATGATAGAGCTGTG	FAM135B	ENSG00000147724.12	transcript	ENST00000395297.6	protein_coding	7/19			chr8	TogoVar
FAM83E_chr19_48594961_48620076	48608692	T T	TGCCTTGG others(357): Show TGCCTTGGCCTCCCAAAGCGCTGGGATTACAGGTGTGAGCCACCACACCT GGCCCTTTTTCTTTTTCCTTTTCCTGAATTATCTGCTATGAAAACTGTGC GTTGTTGTTTTTTGTTGTTGTTGTTGTTGTTGTTTTTGTGAGACGGAGTC TTGCTGTGTCTCCAGGCTGGAGTGCAGTGCTGTGATCTCGGCTCACTGCA ACCTCTGCCTCCCAGGTTCAAGCGATTCTCTTGCCTCAGCCTCCTGAGTA GCTGGGATTATAGGCACCCACCATCATCCCGGCTAATCTTTGTATTTTTG TAGAGACGGGGTTTCATCATGTTGGCCAGGCTGGTCTTGAACTCCTGACC TCAGGTGATCCACCA	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0015 a0015	a0015c0025 a0015c0025	a0015c0025t0054 a0015c0025t0054	a0015c0025t0054g0192 a0015c0025t0054g0192	1	414	0.0024	364	c.758 others(381): Show c.758+1183_758+1184insTGGTGGATCACCTGAGGTCAGGAGTTCA AGACCAGCCTGGCCAACATGATGAAACCCCGTCTCTACAAAAATACAAAG ATTAGCCGGGATGATGGTGGGTGCCTATAATCCCAGCTACTCAGGAGGCT GAGGCAAGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGA GATCACAGCACTGCACTCCAGCCTGGAGACACAGCAAGACTCCGTCTCAC AAAAACAACAACAACAACAACAACAAAAAACAACAACGCACAGTTTTCAT AGCAGATAATTCAGGAAAAGGAAAAAGAAAAAGGGCCAGGTGTGGTGGCT CACACCTGTAATCCCAGCGCTTTGGGAGGCCAAGGC	FAM83E	ENSG00000105523.4	transcript	ENST00000263266.4	protein_coding	5/6			chr19	TogoVar
FDCSP_chr4_70221124_70240252	70227583	T T	TAAAAAGC others(357): Show TAAAAAGCTTTGTTCCTATTTCTCCGCATCCTCTCCAGCACCTGTTGTTT CCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATATCTCAT AGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCT TCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTC ATGTCCTTCGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTA GATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATAT GTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAAT AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01081.hp1 HG01261.hp1 others(3): Show HG00741.hp1 HG01081.hp1 HG01261.hp1 HG01261.hp2 HG03704.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0017 a0001c0001t0001g0039 a0001c0001t0001g0040	6	450	0.0133	364	c.-1+ others(379): Show c.-1+1413_-1+1414insTCCTATTTCTCCGCATCCTCTCCAGCACCT GTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATGAT ATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAG CATTTCTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTG TCTGTTCATGTCCTTCGGAGGGGGGAGGGATAGCATTGGGAGATATACCT AATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTA TACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGA GTATAATAAAAAAAAAAAAAAAAAAAAGCTTTGT	FDCSP	ENSG00000181617.6	transcript	ENST00000317987.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
FKBP1B_chr2_24044741_24068681	24052814	T T	TAAAAAAA others(357): Show TAAAAAAATTAGCTGGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCTGGCTGACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAT TAGCTGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTCGAG ATCGCGCCACTGCGCTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	310	0.0032	364	c.38- others(379): Show c.38-1072_38-1071insAGGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCTGGCTGACACGGTGAAACCCCGTCTCTACTAAAAATACAAA AATTAGCTGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTC GAGATCGCGCCACTGCGCTCCAGCCTGGGCGACAGAGCGAAACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAATTAGCTGGG	FKBP1B	ENSG00000119782.14	transcript	ENST00000380986.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
FOXP1_chr3_70949708_71588728	71435463	A A	AAGGGACG others(357): Show AAGGGACGGAGGGAGGGAAGAAGGGACGGAGGGAGGGAAGAAGGGACGGA GGGAGGGAAGAAGGGACGGAGGGAGGGTAGAAGGGACGGAGGGAGGGAAG AAGGGACGGAGGGAGGGAAGAAGGGACGGAGGGAGGGAGGGAGGGACGGA GGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGG GAAGGAGGGACGGAGGGAGGGAAGGAGGGACGGAGGGAGGGAGGAAGGGA CGGAGGGAGGGAAGGAGGGACGGAGGGAGGGAAGGAGGGACGGAGGGAGG GAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGA CGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0070 a0001c0001t0070	a0001c0001t0070g0025 a0001c0001t0070g0025	1	96	0.0104	364	c.-16 others(385): Show c.-168+57962_-168+57963insCCCTCCCTCCCTCCGTCCCTTCCT CCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCC GTCCCTCCTTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCCCTTCCT CCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCC CTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCT CCCTCCCTCCCTCCGTCCCTTCTTCCCTCCCTCCGTCCCTTCTTCCCTCC CTCCGTCCCTTCTACCCTCCCTCCGTCCCTTCTTCCCTCCCTCCGTCCCT TCTTCCCTCCCTCCGTCCCTTCTTCCCTCCCTCCGTCCCT	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
GABRG3_chr15_26966181_27546984	27388163	G G	GAGGAAGG others(357): Show GAGGAAGGAAGGAAAGGGAGGAGGGAGGGAGGAAAGGAAGGAAGGAAAGG AGGGAGGGAGGGTAAGGAAGGAAGGAAGGAAAGGAGGAAGGAAGGAAAGG GAGGAGGGAGGGAGGAAAGGAAGGAAGGAAAGGAGGGAGGGAGGGTAAGG AAGGAAGGAAGGAAAGGAGGAAGGAAGGAAAGGGAGGAGGGAGGGAGGAA AGGAAGGAAGGAAAGGAGGGAGGGAGGGTAAGGAAGGAAGGAAGGAAAGG AGGAAGGAAGGAAAGGGAGGAGGGAGGGAGGAAAGGAAGGAAGGAAAGGA GGGAGGGAGGGTAAGGAAGGAAGGAAGGAAAGGAGGAAGGAAGGAAAGGG AGGAGGGAGGGAGGA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0069 a0001c0006t0003g0069	1	92	0.0109	364	c.574 others(383): Show c.574+59276_574+59277insGGAAGGAAGGAAAGGGAGGAGGGAGG GAGGAAAGGAAGGAAGGAAAGGAGGGAGGGAGGGTAAGGAAGGAAGGAAG GAAAGGAGGAAGGAAGGAAAGGGAGGAGGGAGGGAGGAAAGGAAGGAAGG AAAGGAGGGAGGGAGGGTAAGGAAGGAAGGAAGGAAAGGAGGAAGGAAGG AAAGGGAGGAGGGAGGGAGGAAAGGAAGGAAGGAAAGGAGGGAGGGAGGG TAAGGAAGGAAGGAAGGAAAGGAGGAAGGAAGGAAAGGGAGGAGGGAGGG AGGAAAGGAAGGAAGGAAAGGAGGGAGGGAGGGTAAGGAAGGAAGGAAGG AAAGGAGGAAGGAAGGAAAGGGAGGAGGGAGGGAGGAA	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GCNT2_chr6_10516351_10634368	10606603	C C	CTTCCATT others(357): Show CTTCCATTAAAGAAATTTAATGGAAATTTCCATTAAAGAAATTTAATGGA AATTTCCATTAAAGAAATTTAATGGAAATTTCCATTAAAGAAATTTAATG GAAATTTCCATTAAAGAAATTTAATGGAAATTTCCATTAAAGAAATTTAA TGGAAATTTCCATTAAAGAAATTTAATGGAAATTTCCATTAAAGAAATTT AATGGAAATTTCCATTAAAGAAATTTAATGGAAATTTCCATTAAAGAAAT TTAATGGAAATTTCCATTAAAGAAATTTAATGGAAATTTCCATTAAAGAA ATTTAATGGAAATTTCCATTAAAGAAATTTAATGGAAATTTCCATTAAAG AAATTTAATGGAAAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0314 a0001c0001t0004g0314	1	324	0.0031	364	c.926 others(383): Show c.926-14676_926-14675insGGAAATTTCCATTAAAGAAATTTAAT GGAAATTTCCATTAAAGAAATTTAATGGAAATTTCCATTAAAGAAATTTA ATGGAAATTTCCATTAAAGAAATTTAATGGAAATTTCCATTAAAGAAATT TAATGGAAATTTCCATTAAAGAAATTTAATGGAAATTTCCATTAAAGAAA TTTAATGGAAATTTCCATTAAAGAAATTTAATGGAAATTTCCATTAAAGA AATTTAATGGAAATTTCCATTAAAGAAATTTAATGGAAATTTCCATTAAA GAAATTTAATGGAAATTTCCATTAAAGAAATTTAATGGAAATTTCCATTA AAGAAATTTAATGGAAATTTCCATTAAAGAAATTTAAT	GCNT2	ENSG00000111846.20	transcript	ENST00000495262.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10550809_10634368	10606603	C C	CTTCCATT others(357): Show CTTCCATTAAAGAAATTTAATGGAAATTTCCATTAAAGAAATTTAATGGA AATTTCCATTAAAGAAATTTAATGGAAATTTCCATTAAAGAAATTTAATG GAAATTTCCATTAAAGAAATTTAATGGAAATTTCCATTAAAGAAATTTAA TGGAAATTTCCATTAAAGAAATTTAATGGAAATTTCCATTAAAGAAATTT AATGGAAATTTCCATTAAAGAAATTTAATGGAAATTTCCATTAAAGAAAT TTAATGGAAATTTCCATTAAAGAAATTTAATGGAAATTTCCATTAAAGAA ATTTAATGGAAATTTCCATTAAAGAAATTTAATGGAAATTTCCATTAAAG AAATTTAATGGAAAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0330 a0001c0004t0003g0330	1	344	0.0029	364	c.920 others(383): Show c.920-14676_920-14675insGGAAATTTCCATTAAAGAAATTTAAT GGAAATTTCCATTAAAGAAATTTAATGGAAATTTCCATTAAAGAAATTTA ATGGAAATTTCCATTAAAGAAATTTAATGGAAATTTCCATTAAAGAAATT TAATGGAAATTTCCATTAAAGAAATTTAATGGAAATTTCCATTAAAGAAA TTTAATGGAAATTTCCATTAAAGAAATTTAATGGAAATTTCCATTAAAGA AATTTAATGGAAATTTCCATTAAAGAAATTTAATGGAAATTTCCATTAAA GAAATTTAATGGAAATTTCCATTAAAGAAATTTAATGGAAATTTCCATTA AAGAAATTTAATGGAAATTTCCATTAAAGAAATTTAAT	GCNT2	ENSG00000111846.20	transcript	ENST00000316170.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GLB1L3_chr11_134271379_134324564	134308475	T T	TACCACCA others(357): Show TACCACCACCACCACCATGTCCACCACCACTACCACCACCATCACCACCA CCACCACCACCATCACCATCACCATCATCACCATCACCTCCACCACCACC ACCACTATCACCACCATCACCATCACCACCATCACCACCATCACCATCAC CACCACCACCATCACCACCACCACCACCACCACCACCAAATACCACCACC ACCACCATGTCCACCACCACTACCACCACCATCACCATCACCACCACCAC CACCACCATCACCATCACCATCATCACCATCACCTCCACCACCACCACCA CTATCACCACCATCACCATCACCACCATCACCACCATCACCATCACCACC ACCACCACCATCACC	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0065 a0001c0003t0001g0065	1	422	0.0024	364	c.962 others(381): Show c.962-1138_962-1137insCCATGTCCACCACCACTACCACCACCAT CACCACCACCACCACCACCATCACCATCACCATCATCACCATCACCTCCA CCACCACCACCACTATCACCACCATCACCATCACCACCATCACCACCATC ACCATCACCACCACCACCATCACCACCACCACCACCACCACCACCAAATA CCACCACCACCACCATGTCCACCACCACTACCACCACCATCACCATCACC ACCACCACCACCACCATCACCATCACCATCATCACCATCACCTCCACCAC CACCACCACTATCACCACCATCACCATCACCACCATCACCACCATCACCA TCACCACCACCACCACCATCACCACCACCACCACCA	GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GLIS3_chr9_3819127_4305068	3876693	G G	GGGAGGAA others(357): Show GGGAGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGGAAGGGAGGGAGG GAGGGGAAGGGAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGGAAGGGAGG GAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGA GGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGG GGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGG GAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGA GGGAGGGAAGGGAGGGAGGGAGGGGAAGGAAGGAAGGGAGGGAGGGGAAG GAAGGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0020 a0002c0002t0020	a0002c0002t0020g0029 a0002c0002t0020g0029	1	188	0.0053	364	c.229 others(383): Show c.2297+2733_2297+2734insTCCCTCCCTCCCTTCCTTCCCCTCCC TCCCTTCCTTCCTTCCCCTCCCTCCCTCCCTTCCCTCCCTCCCTCCCTCC CTTCCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCC CTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCT CCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCC CTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCC CTCCCTTCCCCTCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCT TCCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCTCC	GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	8/10			chr9	TogoVar
GRK4_chr4_2958571_3045760	2961219	T T	TAGTAACT others(357): Show TAGTAACTATATTAATATAGTTAGTATATATTAATATATAGTAACTATAT TAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAG TTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTA ATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAA CTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATA ATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGT ATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATA TAGTAACTATATTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG01168.hp2 HG01169.hp1 others(3): Show HG00733.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp2 HG01346.hp1 HG03540.hp1	a0006 a0007 a0009 others(1): Show a0006 a0007 a0009 a0011	a0006c0006 a0007c0007 a0009c0012 others(1): Show a0006c0006 a0007c0007 a0009c0012 a0011c0016	a0006c0006t0002 a0007c0007t0002 a0009c0012t0002 others(1): Show a0006c0006t0002 a0007c0007t0002 a0009c0012t0002 a0011c0016t0002	a0006c0006t0002g0180 a0007c0007t0002g0245 a0009c0012t0002g0192 others(3): Show a0006c0006t0002g0180 a0007c0007t0002g0245 a0009c0012t0002g0192 a0009c0012t0002g0193 a0009c0012t0002g0252 a0011c0016t0002g0178	6	268	0.0224	364	c.-28 others(375): Show c.-2852_-2851insAGTAACTATATTAATATAGTTAGTATATATTAAT ATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACT ATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAAT ATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTAT ATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATA GTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATT AATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGT TAGTATATTAATATATAGTAACTATATTAA	GRK4	ENSG00000125388.20	transcript	ENST00000398052.9	protein_coding		2351		chr4	TogoVar
GRK5_chr10_119202571_119464745	119287353	G G	GAGGAAGG others(357): Show GAGGAAGGGAGGGAGAGAAGAAGGAGGGAAGAAAGGAAGGGAGGGAGAGA GGGAGGGAGGAAGGGAGAGAGGAGGAAGGGAAGGAGGAAGGGAGGGAGAG AAGAAGGAGGGAAGAAAGGAAGGGAGGGAGAGAGGGAGGGAGGAAGGGAG AGAGGAGGAAGGGAAGGAGGAAGGGAGGGAGAGAAGAAGGAGGGAAGAAA GGAAGGGAGGGAGAGAGGGAGGGAGGAAGGGAGAGAGGAGGAAGGGAAGG AGGAAGGGAGGGAGAGAAGAAGGAGGGAAGAAAGGAAGGGAGGGAGAGAG GGAGGGAGGAAGGGAGAGAGGAGGAAGGGAAGGAGGAAGGGAGGGAGAGA AGAAGGAGGGAAGAA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0112 a0001c0001t0004g0112	1	202	0.0050	364	c.53- others(381): Show c.53-39146_53-39145insAGAAGGAGGGAAGAAAGGAAGGGAGGGA GAGAGGGAGGGAGGAAGGGAGAGAGGAGGAAGGGAAGGAGGAAGGGAGGG AGAGAAGAAGGAGGGAAGAAAGGAAGGGAGGGAGAGAGGGAGGGAGGAAG GGAGAGAGGAGGAAGGGAAGGAGGAAGGGAGGGAGAGAAGAAGGAGGGAA GAAAGGAAGGGAGGGAGAGAGGGAGGGAGGAAGGGAGAGAGGAGGAAGGG AAGGAGGAAGGGAGGGAGAGAAGAAGGAGGGAAGAAAGGAAGGGAGGGAG AGAGGGAGGGAGGAAGGGAGAGAGGAGGAAGGGAAGGAGGAAGGGAGGGA GAGAAGAAGGAGGGAAGAAAGGAAGGGAGGGAGAGA	GRK5	ENSG00000198873.12	transcript	ENST00000392870.3	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr10	TogoVar

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