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
CENPU_chr4_184689085_184739096	184730507	T T	TAAAGAAA others(355): Show TAAAGAAATGCACATGCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGAC CATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCAAGACTCC ATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02109.hp1 HG01081.hp1 HG02109.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0277 a0003c0003t0003g0278 a0003c0003t0003g0277 a0003c0003t0003g0278	2	358	0.0056	362	c.96+ others(375): Show c.96+412_96+413insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCC CAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTC CGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTC ATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCCGCATGTGCATTTCTTT	CENPU	ENSG00000151725.12	transcript	ENST00000281453.10	protein_coding	2/12			chr4	TogoVar
CIP2A_chr3_108544864_108594438	108575651	T T	TGTGTGTA others(355): Show TGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATACACG TATATATACTCATATACATGTGTGTATATACACGTATATATACTCATATA CATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATACA CGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCATA TACGTGTGTATATACACGTATATATACTCATATACGTGTGTATATACACG TATATATACTCATATACGTGTGTATATACACGTATATATACTCATATACG TGTGTATATACGTGTATATATACTCATATACGTGTGTATATACGTGTATA TATACTCATATAC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0246 a0001c0001t0002g0246	1	372	0.0027	362	c.894 others(377): Show c.894+619_894+620insGTATATGAGTATATATACACGTATATACAC ACGTATATGAGTATATATACACGTATATACACACGTATATGAGTATATAT ACGTGTATATACACACGTATATGAGTATATATACGTGTATATACACACGT ATATGAGTATATATACGTGTATATACACACGTATATGAGTATATATACGT GTATATACACACATGTATATGAGTATATATACGTGTATATACACACATGT ATATGAGTATATATACGTGTATATACACACATGTATATGAGTATATATAC GTGTATATACACACATGTATATGAGTATATATACGTGTATATACACACAT GTATATGAGTATATATACGTGTATATACACAC	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CNOT1_chr16_58514951_58634826	58586394	C C	CAGGGGGA others(355): Show CAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAGGGGGAGGGGAAGGG GAGGGCAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGAAGGGC AGGGGAGGGGGAGGGGGACTGGAGGGGAGGGGACGGGAGGGGGGAGGGGG AGGGGAGGGGGGACTGGAGGGGAGGGGAGGGGAAGGGGAAGGGAAGGGGA GGGGAAGGGGATGGGAGGGGAAGGGGAGGAGAGGGAGAGGGGAAGGGGAG GGGAGGGGAAGGGGAGGGGAAGGGGAGGGAAGGGGAGGGAAGGGGAGGGA AGGGAAGGGGAAGGGAAGGGGAGGGAAGGGGAGGGGAGGGGAAGGGGAGG GGAGGGGAGGGGA	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp2 NA19087.hp1 NA18954.hp1 NA18954.hp2 NA19087.hp1	a0001 a0001	a0001c0002 a0001c0017 a0001c0002 a0001c0017	a0001c0002t0001 a0001c0017t0001 a0001c0002t0001 a0001c0017t0001	a0001c0002t0001g0295 a0001c0002t0001g0296 a0001c0017t0001g0073 a0001c0002t0001g0295 a0001c0002t0001g0296 a0001c0017t0001g0073	3	308	0.0097	362	c.637 others(377): Show c.637+150_637+151insTCCCCTCCCCTCCCCTCCCCTTCCCCTCCC CTCCCCTTCCCTCCCCTTCCCTTCCCCTTCCCTTCCCTCCCCTTCCCTCC CCTTCCCTCCCCTTCCCCTCCCCTTCCCCTCCCCTCCCCTTCCCCTCTCC CTCTCCTCCCCTTCCCCTCCCATCCCCTTCCCCTCCCCTTCCCTTCCCCT TCCCCTCCCCTCCCCTCCAGTCCCCCCTCCCCTCCCCCTCCCCCCTCCCG TCCCCTCCCCTCCAGTCCCCCTCCCCCTCCCCTGCCCTTCCCTTCCCCTC CCCCTGCCCTCCCCTTCCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCCTC CCCTCCCCCTGCCCTCCCCTTCCCCTCCCCCT	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	7/48			chr16	TogoVar
CNOT1_chr16_58514951_58634826	58586399	G G	GGAGGGGA others(355): Show GGAGGGGAAGGGGAGGGCAGGGGGAGGGGAGGGGGAGGGGAAGGGGAGGG CAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGAAGGGCAGGGG AGGGGGAGGGGGACTGGAGGGGAGGGGACGGGAGGGGGGAGGGGGAGGGG AGGGGGGACTGGAGGGGAGGGGAGGGGAAGGGGAAGGGAAGGGGAGGGGA AGGGGATGGGAGGGGAAGGGGAGGAGAGGGAGAGGGGAAGGGGAGGGGAG GGGAAGGGGAAGGGAAGGGGAGGGAAGGGGAGGGAAGGAAAGGGAAGGGG AGGGAAGGGGAGGGGAGGGGAAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAAGGGGAGGGGA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01069.hp2 HG01071.hp2 others(13): Show HG00280.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01255.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp1 HG02040.hp1 HG02148.hp2 HG02698.hp1 HG03579.hp1 HG03654.hp1 HG04199.hp2 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0021 a0001c0003 a0001c0021	a0001c0003t0002 a0001c0021t0004 a0001c0003t0002 a0001c0021t0004	a0001c0003t0002g0024 a0001c0003t0002g0026 a0001c0003t0002g0033 others(13): Show a0001c0003t0002g0024 a0001c0003t0002g0026 a0001c0003t0002g0033 a0001c0003t0002g0034 a0001c0003t0002g0035 a0001c0003t0002g0036 a0001c0003t0002g0038 a0001c0003t0002g0044 a0001c0003t0002g0046 a0001c0003t0002g0048 a0001c0003t0002g0049 a0001c0003t0002g0050 a0001c0003t0002g0052 a0001c0003t0002g0056 a0001c0003t0002g0058 a0001c0021t0004g0037	16	308	0.0520	362	c.637 others(377): Show c.637+145_637+146insTCCCCTCCCCTTCCCCTCCCCTCCCCTCCC CTCCCCTCCCCTTCCCCTCCCCTCCCCTTCCCTCCCCTTCCCTTTCCTTC CCTCCCCTTCCCTCCCCTTCCCTTCCCCTTCCCCTCCCCTCCCCTTCCCC TCTCCCTCTCCTCCCCTTCCCCTCCCATCCCCTTCCCCTCCCCTTCCCTT CCCCTTCCCCTCCCCTCCCCTCCAGTCCCCCCTCCCCTCCCCCTCCCCCC TCCCGTCCCCTCCCCTCCAGTCCCCCTCCCCCTCCCCTGCCCTTCCCTTC CCCTCCCCCTGCCCTCCCCTTCCCCTCCCCCTGCCCTCCCCTTCCCCTCC CCCTCCCCTCCCCCTGCCCTCCCCTTCCCCTC	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	7/48			chr16	TogoVar
CNOT1_chr16_58514951_58634826	58586422	G G	GGGAGGGG others(355): Show GGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGGGAAGGGGAGG GCAGGGGGAGGGGAAGGGGGAGGGCAGGGGGAGGGGAAGGGAAGGGCAGG GGAGGGGGAGGGGGACTGGAGGGGAGGGGACGGGAGGGGGGAGGGGGAGG GGAGGGGGACTGGAGGGGAGGGGAGGGGAAGGGGAAGGGAAGGGGAGGGG AAGGGGATGGGAGGGGAAGGGGAGGAGAGGGAGAGGGGAAGGGGAGGGGA GGGGAAGGGGAAGGGAAGGGGAGGGAAGGGGAGGGAAGGGGAGGGAAGGG AAGGGAAGGGGAGGGGAGGGGAAGGGGAGGGGAGGGGAAGGGGAGGAGGG GGGAGGGGAGGGC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0292 a0001c0001t0001g0292	1	308	0.0033	362	c.637 others(377): Show c.637+122_637+123insGCCCTCCCCTCCCCCCTCCTCCCCTTCCCC TCCCCTCCCCTTCCCCTCCCCTCCCCTTCCCTTCCCTTCCCTCCCCTTCC CTCCCCTTCCCTCCCCTTCCCTTCCCCTTCCCCTCCCCTCCCCTTCCCCT CTCCCTCTCCTCCCCTTCCCCTCCCATCCCCTTCCCCTCCCCTTCCCTTC CCCTTCCCCTCCCCTCCCCTCCAGTCCCCCTCCCCTCCCCCTCCCCCCTC CCGTCCCCTCCCCTCCAGTCCCCCTCCCCCTCCCCTGCCCTTCCCTTCCC CTCCCCCTGCCCTCCCCCTTCCCCTCCCCCTGCCCTCCCCTTCCCCTCCC CTTCCCCTCCCCCTGCCCTCCCCTTCCCCTCC	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	7/48			chr16	TogoVar
COL21A1_chr6_56051590_56252580	56098448	T T	TAAATATA others(355): Show TAAATATATAGAAATATATAAATATACATATAAATATATATAAATATATA TGTAAATATATAAATATATAAATATATATGTAAATATATAAATATATATA AATATATATATATAAATATATATAAATATATAAATATATATAAATACATA TGTAAATATATAAATATATATAAATATATAAATATATATAGATATATATA TAAATATATATAAATATATATAGATATATATATAAATATATATAAATATA TATAGATATATATATAAATATATATAAATATATATAGATATATATAAATA TATATAAATATATATAGATATATAGATATATATAAATATATATAGATATA TAGATATATATAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02615.hp2 HG02976.hp2 others(2): Show HG01884.hp1 HG02615.hp2 HG02976.hp2 HG03195.hp1 HG03540.hp1	a0004 a0004	a0004c0004 a0004c0016 a0004c0004 a0004c0016	a0004c0004t0004 a0004c0004t0013 a0004c0016t0004 a0004c0004t0004 a0004c0004t0013 a0004c0016t0004	a0004c0004t0004g0028 a0004c0004t0004g0088 a0004c0004t0013g0004 others(2): Show a0004c0004t0004g0028 a0004c0004t0004g0088 a0004c0004t0013g0004 a0004c0004t0013g0005 a0004c0016t0004g0079	5	264	0.0189	362	c.181 others(381): Show c.1812+3023_1812+3024insTTATATATATCTATATATCTATATAT ATTTATATATATCTATATATCTATATATATTTATATATATTTATATATAT CTATATATATTTATATATATTTATATATATATCTATATATATTTATATAT ATTTATATATATATCTATATATATTTATATATATTTATATATATATCTAT ATATATTTATATATTTATATATATTTATATATTTACATATGTATTTATAT ATATTTATATATTTATATATATTTATATATATATATTTATATATATTTAT ATATTTACATATATATTTATATATTTATATATTTACATATATATTTATAT ATATTTATATGTATATTTATATATTTCTATATATTT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL27A1_chr9_114150537_114317511	114278403	T T	TGGTGATA others(355): Show TGGTGATAGTGGGGGTGGGAGTGGAGTGGAGGTGAGGGTGGTGGTGGTGG TGATGGTGGTGGTGGTGATGGTGATGGTGGTTGGTGGTGGTGATGGTGGT GGTGGTTGGTGGTGGTGATGATGGCGGGGGTGATGGTGGTGATGATGATG GCGGGGGTGGTGGTGGTGATGATGATGGTGGTGGTGATGGTGGTGGTGGT TGGTGGTGGTGATGATGGCGGGGGTGATGGTGGTGATGATGATGGCGGGG GTGGTGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGATGATGGC GGGGGTGGTGGTGGTGATGTTGATGGCGGGGGTGGTGGTGGTGGTGATGA TGGTGGGGGTGGG	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0007 a0007	a0007c0083 a0007c0083	a0007c0083t0005 a0007c0083t0005	a0007c0083t0005g0234 a0007c0083t0005g0234	1	308	0.0033	362	c.371 others(381): Show c.3717+2639_3717+2640insATAGTGGGGGTGGGAGTGGAGTGGAG GTGAGGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGATGGTGGT TGGTGGTGGTGATGGTGGTGGTGGTTGGTGGTGGTGATGATGGCGGGGGT GATGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGATGATGGTGG TGGTGATGGTGGTGGTGGTTGGTGGTGGTGATGATGGCGGGGGTGATGGT GGTGATGATGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGGGGTGG TGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGTTGATGGCGGGG GTGGTGGTGGTGGTGATGATGGTGGGGGTGGGGGTG	COL27A1	ENSG00000196739.15	transcript	ENST00000356083.8	protein_coding	37/60		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL4A3_chr2_227159624_227319792	227203332	T T	TGTGTATA others(355): Show TGTGTATATATGTGTATATACACACACATATGTGTATATATGTGTGTATA TACACACACATATGTGTATATATGTGTGTATATGTGTATATACACACATA TGTGTGTATATGTGTATATACACATACACACATATGTGTGTATATGTGTA TATACACATACACACATATGTGTGTATATGTGTATATACACATACACACA CATATGTGTGTATATGTGTATATACACATACACACATATGTGTGTATGTG TATATACACATACACACATATGTGTGTATATGTGTATATACACATACACA TATATGTGTGTATATGTGTATATACACATACACATATATGTGTATATGTG TATATACACATAC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0093 a0001c0001t0016g0093	1	344	0.0029	362	c.88- others(379): Show c.88-34636_88-34635insGTGTATATATGTGTATATACACACACAT ATGTGTATATATGTGTGTATATACACACACATATGTGTATATATGTGTGT ATATGTGTATATACACACATATGTGTGTATATGTGTATATACACATACAC ACATATGTGTGTATATGTGTATATACACATACACACATATGTGTGTATAT GTGTATATACACATACACACACATATGTGTGTATATGTGTATATACACAT ACACACATATGTGTGTATGTGTATATACACATACACACATATGTGTGTAT ATGTGTATATACACATACACATATATGTGTGTATATGTGTATATACACAT ACACATATATGTGTATATGTGTATATACACATAC	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51			chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924306	G G	GTCCCCAC others(355): Show GTCCCCACACTAACCCGGCCCCCACACTGACCCGGCCCCCCACACTAACC CAGCACCCACACTGACCCGGCCCCCACACTGACCCGGCCCCCCACACTGA CCCAGCCCCCCACACTGACCCAGCCCCCACACTAACCCAGCCCCCACACT AACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCCAC ACTAACCCAGCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCA CACTAACCCGGCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCC ACACTAACCCGGTCCCCACACTAACCCGGCCCCCCACACTGACCCGGCCC CCACACTGACCCA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0012 a0012	a0012c0013 a0012c0013	a0012c0013t0001 a0012c0013t0001	a0012c0013t0001g0123 a0012c0013t0001g0123	1	350	0.0029	362	c.489 others(379): Show c.489-1418_489-1417insTCCCCACACTAACCCGGCCCCCACACTG ACCCGGCCCCCCACACTAACCCAGCACCCACACTGACCCGGCCCCCACAC TGACCCGGCCCCCCACACTGACCCAGCCCCCCACACTGACCCAGCCCCCA CACTAACCCAGCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCC CACACTAACCCAGCCCCCCACACTAACCCAGCCCCCACACTAACCCGGCC CCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCACACTAACCCGGC CCCCACACTAACCCGGCCCCCACACTAACCCGGTCCCCACACTAACCCGG CCCCCCACACTGACCCGGCCCCCACACTGACCCA	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31			chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924467	A A	ACACTGAC others(355): Show ACACTGACCCGGCCCCCACACTAACCCAGCCCCCACACTAACCCAGTCCC CACACTAACCCAGCCCCCACACTAACCCGGCCCCCACACTAACCCAGCCC CCCACACTAACCCAGCCCCCACACTAACCCAGCCCCCACACTAACCCGGC CCCCACACTAACCCGGTCCCCACACTAACCCGGCCCCCACACTAACCCGG CCCCCCACACTGACCCGGCCCCCCACACTGACCCGGCCCCCCACACTGAC CCAGTCCCCCACACTAACCCGGCCCCCACACTAACCCGGTCCCCACACTA ACCCGGTCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCACACT AACCCGGCCCCCC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0012 a0012	a0012c0013 a0012c0013	a0012c0013t0001 a0012c0013t0001	a0012c0013t0001g0123 a0012c0013t0001g0123	1	350	0.0029	362	c.489 others(379): Show c.489-1257_489-1256insCACTGACCCGGCCCCCACACTAACCCAG CCCCCACACTAACCCAGTCCCCACACTAACCCAGCCCCCACACTAACCCG GCCCCCACACTAACCCAGCCCCCCACACTAACCCAGCCCCCACACTAACC CAGCCCCCACACTAACCCGGCCCCCACACTAACCCGGTCCCCACACTAAC CCGGCCCCCACACTAACCCGGCCCCCCACACTGACCCGGCCCCCCACACT GACCCGGCCCCCCACACTGACCCAGTCCCCCACACTAACCCGGCCCCCAC ACTAACCCGGTCCCCACACTAACCCGGTCCCCACACTAACCCAGTCCCCA CACTAACCCAGTCCCCACACTAACCCGGCCCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31			chr2	TogoVar
CXorf51A_chrX_146809106_146819744	146812296	T T	TGTACATA others(355): Show TGTACATATATGTGTATATATGTATATACACATATATATGTGTACATATA TGTGTATATATGTATATACACATATATGTGTACATATATGTGTATATATG TATATACACATATATATGTGTACATATATGTGTATATATGTATATACACA TATATATGTGTACATATATGTGTATATATGTATATACACATATATATGTG TATATATGTATATACACATATATATGTGTATATATGTATATACACATATA TATGTGTATATATGTATATACACATATATATGTGTACATATATGTGTGTA TATGTGTGTATATATACATATATGTGTATATACGTATATACACATGTGTA TATACGTATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	264	0.0038	362	c.19 others(373): Show c.1910_*1911insGTATATACGTATATACACATGTGTATATACGTAT ATACACATATATGTATATATACACACATATACACACATATATGTACACAT ATATATGTGTATATACATATATACACATATATATGTGTATATACATATAT ACACATATATATGTGTATATACATATATACACATATATATGTGTATATAC ATATATACACATATATGTACACATATATATGTGTATATACATATATACAC ATATATGTACACATATATATGTGTATATACATATATACACATATATGTAC ACATATATGTGTATATACATATATACACATATATGTACACATATATATGT GTATATACATATATACACATATATGTAC	CXorf51A	ENSG00000224440.2	transcript	ENST00000458472.2	protein_coding		1809		chrX	TogoVar
CYP20A1_chr2_203234018_203311026	203251815	A A	ATATATAT others(355): Show ATATATATATGTGTATATATATATATATATATATATATGTGTATATATAT ATATATATATGTGTGTATATATATATATATATATATATATGTGTATATAT ATATATATATATATATGTGTATATATATATATATATATATATATGTGTAT ATATATATATATATATATATATATGTGTATATATATATATATATGTGTAT ATATATATATATATGTGTATATATATATATATATATGTGTATATATATAT ATATATATATGTGTATATATATATATATATATGTGTATATATATATATAT ATATGTGTATATATATATATATATATATATGTGTATATATATATATATAT ATATATATATATG	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0129 a0002c0002t0129	a0002c0002t0129g0208 a0002c0002t0129g0208	1	334	0.0030	362	c.290 others(377): Show c.290-150_290-149insTATATATGTGTATATATATATATATATATA TATATGTGTATATATATATATATATATGTGTGTATATATATATATATATA TATATATGTGTATATATATATATATATATATATGTGTATATATATATATA TATATATATATGTGTATATATATATATATATATATATATATGTGTATATA TATATATATATGTGTATATATATATATATATGTGTATATATATATATATA TATGTGTATATATATATATATATATATGTGTATATATATATATATATATG TGTATATATATATATATATATGTGTATATATATATATATATATATATGTG TATATATATATATATATATATATATATATGTA	CYP20A1	ENSG00000119004.17	transcript	ENST00000356079.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DCLK2_chr4_150073445_150262438	150251011	C C	CCACACCC others(355): Show CCACACCCCCACACACCCCCCACACCACACATCCCCACACCCCCCACACC CCCACACCCCCCAAATCCCCCACACCCCCCACACACCCCACACCCCCCAA ATCCCCCACACCTCCCACATCCCCCCACACCACACACACCCCCACACCAC ACATCCCCCACACCCCCAAATCCCCCACACCCCCCACATCTCCCCACACC CCCCACATCCCCCACACCTCCCACATCCCCCCACATCCCCCACACCCCCC ACACCACAAATCCTCCACACCCCCACACCACACATCCCTCACACCCCCCA CACCCCCCACATCCCCCACACCCCCACACACCCCCCACACCCCCACACCC CCCACACCCCCCA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	116	0.0086	362	c.207 others(381): Show c.2073+1327_2073+1328insCACACCCCCACACACCCCCCACACCA CACATCCCCACACCCCCCACACCCCCACACCCCCCAAATCCCCCACACCC CCCACACACCCCACACCCCCCAAATCCCCCACACCTCCCACATCCCCCCA CACCACACACACCCCCACACCACACATCCCCCACACCCCCAAATCCCCCA CACCCCCCACATCTCCCCACACCCCCCACATCCCCCACACCTCCCACATC CCCCCACATCCCCCACACCCCCCACACCACAAATCCTCCACACCCCCACA CCACACATCCCTCACACCCCCCACACCCCCCACATCCCCCACACCCCCAC ACACCCCCCACACCCCCACACCCCCCACACCCCCCA	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15			chr4	TogoVar
DCLK2_chr4_150073445_150262438	150251147	C C	CCCACACC others(355): Show CCCACACCCCACACCCCCCACACCCCCACACCCCACACACCCCACACCAC ACATCCCCCACACCCCCCAACCCCCACACCCCCACACACCCCACACCACA CATCCCCACACCCCCCATCCCCCACACCCCCACATCCCCCACACCCCCAC ACCCCCCACACCCCCACACCCCCACACCACACATCCCCACACCCCCCAAC ACCCCCACACCCCCACACACCCCACACCACACATCCCCCACACCCCCCAC ATCCCCACACCCCCCACATCCCCCACACCCCACATCCCCCACACCCCCAC ACACCCCCACACCACACATCCCCCACACCCCCCAACACCCCCACACCCCC ACACACCCCCACA	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	116	0.0086	362	c.207 others(381): Show c.2073+1469_2073+1470insCCCACACCCCCCACACCCCCACACCC CACACACCCCACACCACACATCCCCCACACCCCCCAACCCCCACACCCCC ACACACCCCACACCACACATCCCCACACCCCCCATCCCCCACACCCCCAC ATCCCCCACACCCCCACACCCCCCACACCCCCACACCCCCACACCACACA TCCCCACACCCCCCAACACCCCCACACCCCCACACACCCCACACCACACA TCCCCCACACCCCCCACATCCCCACACCCCCCACATCCCCCACACCCCAC ATCCCCCACACCCCCACACACCCCCACACCACACATCCCCCACACCCCCC AACACCCCCACACCCCCACACACCCCCACACCACAC	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
DECR2_chr16_396885_417482	397708	G G	GGTGAGGG others(355): Show GGTGAGGGAGTCGGGGGGTGGGGGGTGGGGGGGGTGAGGGAGTCGGGGGG TGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGG GGGGTGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGG TGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGGTGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	367	0.0027	362	c.-42 others(373): Show c.-4256_-4255insGTGAGGGAGTCGGGGGGTGGGGGGTGGGGGGGGT GAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGG GTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGG GGGTGAGGGAGTCGGGGGGTGGGGGGTGGGGGTGGGGGGGGTGAGGGAGT CGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGGTGGGGGGGGTGAGGGAGTTG GGGGGTGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGT	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4176		chr16	TogoVar
DHRSX_chrX_2214506_2505976	2227960	A A	AGGAAGGG others(355): Show AGGAAGGGAGGGGAGGGAGGGGAGAAGGGAGGGAGGGAGGGAGGGAGGGA GGAAGGAAGGGAGGGAGGAAGGGAGGGAGGAGGGAGGGAAGGAGGGAGGG AGGGAGGAAGGGAGGGAGGGAAGGAGGGGAGGGAGGGGAGGGAGGGAGGG AGGAAGGGAGGGAGGGAAGGAGGGAGGGAGGAAGGGAGGAGGGAGGGAGG GAGGAAGGGATGGAGGAAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGAA GGGAGGGAGGGAAGGGAGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAGAG GGAAGGGAAGGGAGGAAGGAGGGAGGGAGGGAGGGACGAAGGAAGGGAGG GGAGGGAGGAGGG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0014 a0009c0010t0014	a0009c0010t0014g0046 a0009c0010t0014g0046	1	50	0.0200	362	c.805 others(379): Show c.805-6732_805-6731insCCCTCCTCCCTCCCCTCCCTTCCTTCGT CCCTCCCTCCCTCCCTCCTTCCTCCCTTCCCTTCCCTCTCCTTCCTCCCT CCCTCCCTCCCTCCCTCCTCCCTTCCCTCCCTCCCTTCCTCCCTCCCTCC CTCCCTTCCTCCCTCCCTTCCTCCATCCCTTCCTCCCTCCCTCCCTCCTC CCTTCCTCCCTCCCTCCTTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCC CTCCCTCCCCTCCTTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCTTCCC TCCCTCCTCCCTCCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTCC CTCCCTCCCTTCTCCCCTCCCTCCCCTCCCTTCC	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	6/6			chrX	TogoVar
DNAH12_chr3_57288700_57549344	57390424	A A	AAAATATA others(355): Show AAAATATATATATATATATATATACACATACATATACATATATACACATA CATATACATATATACACATACATATACATATATACACATACATATATATA TACATATATATACATATATATATACGTATATATATATACGTGTATATATA TATACATATATATATATACGTGTGTATATATATACACATATATATATACA CGTATATATATACACATATATATATATACACATATATATATATACACATA TATATATATACACACATATATATACACACATATATATATACACATATATA TATACACATATATATATATATACACATATATATATATATACACATATATA TATATATATATAT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0006	1	266	0.0038	362	c.730 others(381): Show c.7305+1447_7305+1448insATATATATATATATATATATGTGTAT ATATATATATATGTGTATATATATATATATGTGTATATATATATGTGTAT ATATATATGTGTGTATATATATGTGTGTATATATATATATGTGTATATAT ATATATGTGTATATATATATATGTGTATATATATACGTGTATATATATAT GTGTATATATATACACACGTATATATATATATGTATATATATATACACGT ATATATATATACGTATATATATATGTATATATATGTATATATATATGTAT GTGTATATATGTATATGTATGTGTATATATGTATATGTATGTGTATATAT GTATATGTATGTGTATATATATATATATATATATTT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DYSF_chr2_71448561_71691763	71618151	G G	GGTGTGTG others(355): Show GGTGTGTGTGTGTGTGGTAGAGGTGGGGTATAAGTGTGTGTGGTAGAGAT GGGGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGCG TGTGTGGTAGAGGTGGTGTGTGTGTGTGTGTGTGTGTGGTAGAGGTGGGG TATAAGTGTGTGTGGTAGAGATGGGGTGTGTGTGTGTGGTAGAGGTGGGG TGTGTGTGTGGTAGAGGTGGCGTGTGTGGTAGAGGTGGTGTGTGTGTGTG TGTGTGTGTGGTAGAGGTGGGGTATAAGTGTGTGTGGTAGAGATGGGGTG TGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGCGTGTGTG GTAGAGGTGGTGT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02300.hp1 HG01934.hp2 HG02300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0122 a0001c0002t0001g0135 a0001c0002t0001g0122 a0001c0002t0001g0135	2	192	0.0104	362	c.441 others(381): Show c.4410+4756_4410+4757insGTAGAGGTGGGGTATAAGTGTGTGTG GTAGAGATGGGGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAG AGGTGGCGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGTGTGTGTGGTAG AGGTGGGGTATAAGTGTGTGTGGTAGAGATGGGGTGTGTGTGTGTGGTAG AGGTGGGGTGTGTGTGTGGTAGAGGTGGCGTGTGTGGTAGAGGTGGTGTG TGTGTGTGTGTGTGTGTGGTAGAGGTGGGGTATAAGTGTGTGTGGTAGAG ATGGGGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGG CGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGTGTG	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(355): Show GGTGTGTGTGTGTGTGGTAGAGGTGGGGTATAAGTGTGTGTGGTAGAGAT GGGGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGCG TGTGTGGTAGAGGTGGTGTGTGTGTGTGTGTGTGTGTGGTAGAGGTGGGG TATAAGTGTGTGTGGTAGAGATGGGGTGTGTGTGTGTGGTAGAGGTGGGG TGTGTGTGTGGTAGAGGTGGCGTGTGTGGTAGAGGTGGTGTGTGTGTGTG TGTGTGTGTGGTAGAGGTGGGGTATAAGTGTGTGTGGTAGAGATGGGGTG TGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGCGTGTGTG GTAGAGGTGGTGT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02300.hp2 HG01934.hp1 HG02300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0040 a0001c0002t0001g0069 a0001c0002t0001g0040 a0001c0002t0001g0069	2	208	0.0096	362	c.446 others(381): Show c.4465-2381_4465-2380insGTAGAGGTGGGGTATAAGTGTGTGTG GTAGAGATGGGGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAG AGGTGGCGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGTGTGTGTGGTAG AGGTGGGGTATAAGTGTGTGTGGTAGAGATGGGGTGTGTGTGTGTGGTAG AGGTGGGGTGTGTGTGTGGTAGAGGTGGCGTGTGTGGTAGAGGTGGTGTG TGTGTGTGTGTGTGTGTGGTAGAGGTGGGGTATAAGTGTGTGTGGTAGAG ATGGGGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGG CGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGTGTG	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	40/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
EFCAB12_chr3_129396321_129433636	129417807	T T	TAGAAATA others(355): Show TAGAAATACAGCATCTTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA TTAGCCGGGCGCGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAAGCAGAGAGCTTGCAGTGAGCC GAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCAAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0001	a0001c0018t0001g0161 a0001c0018t0001g0161	1	386	0.0026	362	c.681 others(377): Show c.681+446_681+447insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCC AGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCT CTGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGATTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTGTATTTTTAGTA GAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTC ATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCCAAAAGATGCTGTATTTCT	EFCAB12	ENSG00000172771.13	transcript	ENST00000505956.6	protein_coding	3/8			chr3	TogoVar
ERC1_chr12_986223_1500931	1122265	A A	ATCTCTAT others(355): Show ATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTATCTATCTCTATCT CTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTATCTCT ATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTATCTCTATCTCTAT CTCTATCTGTGTCTCTATCTCTATCTATCTCTATCTCTATCTCTATCTCT ATATCTGTGTCTCTATCTCTATCTCTATCTGTATCTCTATCTCTATCTCT ATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTATCTATCTCTATCT CTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTATCTCT ATCTCTATCTGTG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0112 a0001c0001t0112	a0001c0001t0112g0052 a0001c0001t0112g0052	1	162	0.0062	362	c.156 others(381): Show c.1569+6241_1569+6242insCTATCTGTGTCTCTATCTCTATCTCT ATCTATCTCTATCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCT CTATCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCT ATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTATCTCTATCT CTATCTCTATCTCTATATCTGTGTCTCTATCTCTATCTCTATCTGTATCT CTATCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCT ATCTATCTCTATCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCT CTATCTCTATCTCTATCTCTATCTGTGTCTCTATCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
FDCSP_chr4_70221124_70240252	70227583	T T	TAAAAAGC others(355): Show TAAAAAGCTTTGTTCCTATTTCTCCGCATCCTCTCCAGCACCTGTTGTTT CCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATATCTCAT AGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCT TCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTC ATGTCCTTCGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTA GATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATAT GTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAAT AAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG02698.hp1 NA18957.hp2 others(4): Show HG01168.hp2 HG02698.hp1 NA18957.hp2 NA18972.hp2 NA18984.hp1 NA19076.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0012 a0001c0001t0001g0045 a0001c0001t0001g0046	7	450	0.0156	362	c.-1+ others(377): Show c.-1+1413_-1+1414insTCCTATTTCTCCGCATCCTCTCCAGCACCT GTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATGAT ATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAG CATTTCTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTG TCTGTTCATGTCCTTCGGAGGGGGGAGGGATAGCATTGGGAGATATACCT AATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTA TACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGA GTATAATAAAAAAAAAAAAAAAAAAGCTTTGT	FDCSP	ENSG00000181617.6	transcript	ENST00000317987.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
FHIT_chr3_59742277_61256452	59986774	A A	ATATATTT others(355): Show ATATATTTATATAAATATATAAATATATTTATATAAATATATTTATATAA ATATATAAATATATTTATATAAATATATAAATATATTTATATAAATATAT AAATATATTTATATAAATATATTTATATAAATATATAAATATATTTATAT AAATATATAAATATATTTATATAAATATATTTATATAAATATATAAATAT ATTTATATAAATATATAAATATAAATATATTTATATAATATATTTATATA AATATATAAATATATTTATATAAATATATAAATATAAATATATTTATATA AATATATAAATATAAATATATTTATATAATATATTTATATAAATATATAA ATATAAATATATT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0003 a0001c0001t0013g0003	1	46	0.0217	362	c.279 others(381): Show c.279+24596_279+24597insAATATATTTATATTTATATATTTATA TAAATATATTATATAAATATATTTATATTTATATATTTATATAAATATAT TTATATTTATATATTTATATAAATATATTTATATATTTATATAAATATAT TATATAAATATATTTATATTTATATATTTATATAAATATATTTATATATT TATATAAATATATTTATATAAATATATTTATATATTTATATAAATATATT TATATATTTATATAAATATATTTATATAAATATATTTATATATTTATATA AATATATTTATATATTTATATAAATATATTTATATATTTATATAAATATA TTTATATAAATATATTTATATATTTATATAAATATA	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	7/9			chr3	TogoVar
FILIP1_chr6_75303090_75498800	75396049	A A	AGTGTCTT others(355): Show AGTGTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCCGGACTGCGGACTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCC GCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGTGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCA TGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0273 a0001c0001t0001g0273	1	306	0.0033	362	c.276 others(381): Show c.276+18647_276+18648insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGCGGTGGCGGGCACCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCGAGATTGTGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAGACAC	FILIP1	ENSG00000118407.15	transcript	ENST00000237172.12	protein_coding	2/5			chr6	TogoVar
FLT3_chr13_27998274_28105576	27998752	A A	ATATATAT others(355): Show ATATATATATTTATATGTATATAAATATATATATTTATATGTATATAAAT ATATATATTTATATGTATATAAATATATATATTTATATGTATATAAATAT ATATATTTATATGTATATAAATATATATATTTATATGTATATAAATATAT ATATTTATATGTATATAAATATATATATTTATATGTATATAAATATATAT ATTTATATGTATATAAATATATATATTTATATATAAATATATATATTTGT ATATAAATATATATATTTATATATAAATATATGTTATATATATTTATATA TAAATATGTTATATATATTTATATATAAATATATGTTATATATATTTATA TATAAATATATGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0151 a0002c0008t0001g0151	1	292	0.0034	362	c.52 others(373): Show c.5299_*5300insACATATATTTATATATAAATATATATAACATATA TTTATATATAAATATATATAACATATTTATATATAAATATATATAACATA TATTTATATATAAATATATATATTTATATACAAATATATATATTTATATA TAAATATATATATTTATATACATATAAATATATATATTTATATACATATA AATATATATATTTATATACATATAAATATATATATTTATATACATATAAA TATATATATTTATATACATATAAATATATATATTTATATACATATAAATA TATATATTTATATACATATAAATATATATATTTATATACATATAAATATA TATATTTATATACATATAAATATATATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4521		chr13	TogoVar
FLT3_chr13_27998274_28105576	27998752	A A	ATATATAT others(355): Show ATATATATATTTATATGTATATAAATATATATATTTATATGTATATAAAT ATATATATTTATATGTATATAAATATATATATTTATATGTATATAAATAT ATATATTTATATGTATATAAATATATATATTTATATGTATATAAATATAT ATATTTATATGTATATAAATATATATATTTATATGTATATAAATATATAT ATTTATATGTATATAAATATATATATTTGTATATAAATATATATATTTGT ATATAAATATATATATTTATATATAAATATATGTTATATATATTTATATA TAAATATGTTATATATATTTATATATAAATATATGTTATATATATTTATA TATAAATATATGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0023 a0023	a0023c0036 a0023c0036	a0023c0036t0001 a0023c0036t0001	a0023c0036t0001g0214 a0023c0036t0001g0214	1	292	0.0034	362	c.52 others(373): Show c.5299_*5300insACATATATTTATATATAAATATATATAACATATA TTTATATATAAATATATATAACATATTTATATATAAATATATATAACATA TATTTATATATAAATATATATATTTATATACAAATATATATATTTATATA CAAATATATATATTTATATACATATAAATATATATATTTATATACATATA AATATATATATTTATATACATATAAATATATATATTTATATACATATAAA TATATATATTTATATACATATAAATATATATATTTATATACATATAAATA TATATATTTATATACATATAAATATATATATTTATATACATATAAATATA TATATTTATATACATATAAATATATATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4521		chr13	TogoVar
GALNT9_chr12_132191372_132334589	132241402	C C	CAGGGCCG others(355): Show CAGGGCCGTCCCTATACCCATTACACACACACCACACACCCTTCCCCGGG CCCTCCCTATACCCATTACACACACACCACACCCCCTTCCCGGGGCCCTC CCTATACCCATTGCACACACAACACACACTTCCCGGGGCCCTCCCTATAC CCATTACACACACGCCACACATCCTTCCAGGGGCCCTCCCTATACCCATT ACACACACGCCACACACCCTTCCCAGGGCCGTCCCTATACCCATTACACA CACAACACACACCCTTCCCGGGGCCCTCCCTATACCCATTACACACACGC CACACCACCTTCCCGGGGGGCCCTCCCTATACTCATTACACACATGCCAC ACCACCTTCCCGG	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA19067.hp1 NA18952.hp2 NA19067.hp1	a0001 a0001	a0001c0013 a0001c0034 a0001c0013 a0001c0034	a0001c0013t0004 a0001c0034t0004 a0001c0013t0004 a0001c0034t0004	a0001c0013t0004g0124 a0001c0034t0004g0158 a0001c0013t0004g0124 a0001c0034t0004g0158	2	183	0.0109	362	c.107 others(381): Show c.1077+6507_1077+6508insCCGGGAAGGTGGTGTGGCATGTGTGT AATGAGTATAGGGAGGGCCCCCCGGGAAGGTGGTGTGGCGTGTGTGTAAT GGGTATAGGGAGGGCCCCGGGAAGGGTGTGTGTTGTGTGTGTAATGGGTA TAGGGACGGCCCTGGGAAGGGTGTGTGGCGTGTGTGTAATGGGTATAGGG AGGGCCCCTGGAAGGATGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGC CCCGGGAAGTGTGTGTTGTGTGTGCAATGGGTATAGGGAGGGCCCCGGGA AGGGGGTGTGGTGTGTGTGTAATGGGTATAGGGAGGGCCCGGGGAAGGGT GTGTGGTGTGTGTGTAATGGGTATAGGGACGGCCCT	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132241703	A A	ACACACAC others(355): Show ACACACACCCTTCCAGGGGCCCTCCCTATACCCATTACACACACGCCACA CCCCCTTCCCGGGGGGCCCTCCCTATACCCATTACACACACGCCACACCC CCTTCCAGGGGCCCTCCCTATACCCATTACACACACGCCACAGACCCTTC CCAGGGCCGTCCCTATACCCATTACACACACAACACACACCCTTCCAGGG GCCCCCCCTATACCCATTACACACACGCCACACACCCTTCCAGGGGCCCT CCCTATACCCATTACACACACGCCACAGACCCTTCCCAGGGCCGTCCCTA TACCCATTACACACACAACACACACCCTTCCCGGGGCCATCCCTATACCC ATTACACACACGC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp2 HG03139.hp1 HG03139.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0023 a0001c0002 a0004c0023	a0001c0002t0005 a0004c0023t0005 a0001c0002t0005 a0004c0023t0005	a0001c0002t0005g0066 a0004c0023t0005g0028 a0001c0002t0005g0066 a0004c0023t0005g0028	2	183	0.0109	362	c.107 others(381): Show c.1077+6206_1077+6207insGCGTGTGTGTAATGGGTATAGGGATG GCCCCGGGAAGGGTGTGTGTTGTGTGTGTAATGGGTATAGGGACGGCCCT GGGAAGGGTCTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCTGGAA GGGTGTGTGGCGTGTGTGTAATGGGTATAGGGGGGGCCCCTGGAAGGGTG TGTGTTGTGTGTGTAATGGGTATAGGGACGGCCCTGGGAAGGGTCTGTGG CGTGTGTGTAATGGGTATAGGGAGGGCCCCTGGAAGGGGGTGTGGCGTGT GTGTAATGGGTATAGGGAGGGCCCCCCGGGAAGGGGGTGTGGCGTGTGTG TAATGGGTATAGGGAGGGCCCCTGGAAGGGTGTGTG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GLIS3_chr9_3819127_4305068	3876693	G G	GGGAGGAA others(355): Show GGGAGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGGAAGGGAGGGAGG GAGGGGAAGGGAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGGGAGGGAGG GAGGGAGGGGAAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGG GAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGA GGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGG GGAAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGG GAGGGAAGGGAGGGAGGGAGGGGAAGGAAGGAAGGGAGGGAGGGGAAGGA AGGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0054 a0002c0002t0006g0054	1	188	0.0053	362	c.229 others(381): Show c.2297+2733_2297+2734insTCCCTCCCTCCCTTCCTTCCCCTCCC TCCCTTCCTTCCTTCCCCTCCCTCCCTCCCTTCCCTCCCTCCCTCCCTCC CTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTTCCCCTCCCTCCCTCC CTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCT TCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCT CCCTCCCTCCCTCCCTTCCCCTCCCTTCCCCTCCCTCCCTCCCTCCCCCT CCCTTCCCCTCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTTC CCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCTCC	GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	8/10			chr9	TogoVar
HECTD4_chr12_112155195_112387431	112339310	C C	CAAGAAAA others(355): Show CAAGAAAATGCAAGTCACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAA AGAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02132.hp2 HG03579.hp2 others(8): Show HG00597.hp2 HG02132.hp2 HG03579.hp2 NA18968.hp2 NA18980.hp1 NA19009.hp2 NA19012.hp2 NA19057.hp1 NA19067.hp1 NA19070.hp2 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0011 a0002c0004 a0001c0001 a0001c0011 a0002c0004	a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 others(2): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0011t0010 a0002c0004t0003	a0001c0001t0003g0010 a0001c0001t0003g0014 a0001c0001t0003g0017 others(8): Show a0001c0001t0003g0010 a0001c0001t0003g0014 a0001c0001t0003g0017 a0001c0001t0003g0031 a0001c0001t0005g0046 a0001c0001t0006g0254 a0001c0001t0006g0256 a0001c0001t0006g0257 a0001c0001t0006g0259 a0001c0011t0010g0146 a0002c0004t0003g0052	11	270	0.0407	362	c.178 others(381): Show c.178-19569_178-19568insTTTTTTTTTTTCTTTTTTTTCTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCGTGACTTGCATTTTCTT	HECTD4	ENSG00000173064.14	transcript	ENST00000682272.1	protein_coding	1/75			chr12	TogoVar
HOMEZ_chr14_23267422_23291132	23280710	T T	TTTTATTT others(355): Show TTTTATTTATTTTATTTTTTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTA	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0215 a0002c0002t0002g0215	1	394	0.0025	362	c.41- others(377): Show c.41-3524_41-3523insTAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAAAAAATAAAATAAATAAA	HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	1/1			chr14	TogoVar
IFITM10_chr11_1727406_1755595	1754405	G G	GGGGCATA others(355): Show GGGGCATAGAGGGATGGAGGGGATGGAGGGGCATAGAGGGATGGAGGGGA TGGAGGGGATGAAGGGATGGAGGGGCATGGAGGGATGGAGGGGATGGAGG GGCATAGAGGGATGGAGGGGATGGAGGGGCATAGAGGGATGGAGGGGATG GAGGGGCATAGAGGGATGGAGGGGATGGAGGGGATGAAGGGATGGAGGGG CATGGAGGGATGGAGGGGATGGAGGGGCATAGAGGGATGGAGGGGATGGA GGGGATGAAGGGATGGAAGGGATGGAGGGGCATGGAGGGATGGAGGGATG GAGGGATAGACAGATGGAGGGGATGGAGGGTCATGGAGAGTCACAGAGGG ATGTGGGGATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	406	0.0025	362	c.-39 others(373): Show c.-3964_-3963insTCCATCCCCACATCCCTCTGTGACTCTCCATGAC CCTCCATCCCCTCCATCTGTCTATCCCTCCATCCCTCCATCCCTCCATGC CCCTCCATCCCTTCCATCCCTTCATCCCCTCCATCCCCTCCATCCCTCTA TGCCCCTCCATCCCCTCCATCCCTCCATGCCCCTCCATCCCTTCATCCCC TCCATCCCCTCCATCCCTCTATGCCCCTCCATCCCCTCCATCCCTCTATG CCCCTCCATCCCCTCCATCCCTCTATGCCCCTCCATCCCCTCCATCCCTC CATGCCCCTCCATCCCTTCATCCCCTCCATCCCCTCCATCCCTCTATGCC CCTCCATCCCCTCCATCCCTCTATGCCC	IFITM10	ENSG00000244242.2	transcript	ENST00000340134.5	protein_coding		3811		chr11	TogoVar
IFNAR1_chr21_33319970_33364864	33321822	A A	ATGTGGAA others(355): Show ATGTGGAACATACATGCGTGGAACCAATACATATGTGGAACATACATGTG TGGAACCAATACATATGTGGAACTGTGGAACCAATACATATGTGGACCAT ACATGTGTGGAACCAATACATATGTGGACCATACATGTGTGGAACCAATA CATATGTGGACCATACATGTGTGGAACCAATACATATGTGGACCATACAT GTGTGGAACCAATACATATGTGGAACATACATGTGTGGAACCAATACATA TGTGGAACATACATGTGTGGAACCAATACATATGTGGACCATACATGTGT GGAACCAATACATATGTGGACCATACATGTGTGGAACCAATACATATGTG GACCATACATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	323	0.0031	362	c.-32 others(373): Show c.-3234_-3233insTGTGGAACATACATGCGTGGAACCAATACATATG TGGAACATACATGTGTGGAACCAATACATATGTGGAACTGTGGAACCAAT ACATATGTGGACCATACATGTGTGGAACCAATACATATGTGGACCATACA TGTGTGGAACCAATACATATGTGGACCATACATGTGTGGAACCAATACAT ATGTGGACCATACATGTGTGGAACCAATACATATGTGGAACATACATGTG TGGAACCAATACATATGTGGAACATACATGTGTGGAACCAATACATATGT GGACCATACATGTGTGGAACCAATACATATGTGGACCATACATGTGTGGA ACCAATACATATGTGGACCATACATGTG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3147		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33321822	A A	ATGTGGAA others(355): Show ATGTGGAACTGTGGAACCAATACATATGTGGACCATACATGTGTGGAACC AATACATATGTGGACCATACATGTGTGGAACCAATACATATGTGGACCAT ACATGTGTGGAACCAATACATATGTGGACCATACATGTGTGGAACCAATA CATATGTGGACCATACATGTGTGGAACCAATACATATGTGGACCATACAT GTGTGGAACCAATACATATGTGGAACATACATGTGTGGAACCAATACATA TGTGGAACATACATGTGTGGAACCAATACATATGTGGACCATACATGTGT GGAACCAATACATATGTGGACCATACATGTGTGGAACCAATACATATGTG GACCATACATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp1 NA18942.hp2 NA18948.hp1 others(1): Show HG03239.hp1 NA18942.hp2 NA18948.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0003 a0001c0001t0011g0011 a0001c0001t0011g0025 a0001c0001t0001g0003 a0001c0001t0011g0011 a0001c0001t0011g0025	4	323	0.0124	362	c.-32 others(373): Show c.-3234_-3233insTGTGGAACTGTGGAACCAATACATATGTGGACCA TACATGTGTGGAACCAATACATATGTGGACCATACATGTGTGGAACCAAT ACATATGTGGACCATACATGTGTGGAACCAATACATATGTGGACCATACA TGTGTGGAACCAATACATATGTGGACCATACATGTGTGGAACCAATACAT ATGTGGACCATACATGTGTGGAACCAATACATATGTGGAACATACATGTG TGGAACCAATACATATGTGGAACATACATGTGTGGAACCAATACATATGT GGACCATACATGTGTGGAACCAATACATATGTGGACCATACATGTGTGGA ACCAATACATATGTGGACCATACATGTG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3147		chr21	TogoVar
IFTAP_chr11_36589502_36664272	36604230	T T	TAATATTC others(355): Show TAATATTCACAGCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0230 a0001c0001t0002g0231	2	358	0.0056	362	c.-23 others(379): Show c.-23-5838_-23-5837insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAATATTCACAGCA	IFTAP	ENSG00000166352.18	transcript	ENST00000334307.10	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr11	TogoVar
IL1RAPL2_chrX_104561199_105772829	105307531	A A	ATATATAT others(355): Show ATATATATTATATATAATATATATATTTTATATTATATATATTATATATA ATATATATATTTTATATTATATATATTATATATAATATATATATTTTATA TTATATATATTATATATAATATATATATTTTATATTATATATATTATATA TAATATATATATTTTATATTATATATATTATATATAATATATATTTTATA TTATATATATTATATATAATATATATTTTATATTATATATATTATATATA ATATATATTTTATATTATATATATTATATATAATATATATTTTATATTGT ATATATTATATATAATATATATTTTATATTGTATATATTATATATAATAT ATATTTTATATTG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	141	0.0071	362	c.697 others(381): Show c.697+40013_697+40014insATTTTATATTATATATATTATATATA ATATATATATTTTATATTATATATATTATATATAATATATATATTTTATA TTATATATATTATATATAATATATATATTTTATATTATATATATTATATA TAATATATATATTTTATATTATATATATTATATATAATATATATTTTATA TTATATATATTATATATAATATATATTTTATATTATATATATTATATATA ATATATATTTTATATTATATATATTATATATAATATATATTTTATATTGT ATATATTATATATAATATATATTTTATATTGTATATATTATATATAATAT ATATTTTATATTGTATATATTATATATAATATATAT	IL1RAPL2	ENSG00000189108.14	transcript	ENST00000372582.6	protein_coding	5/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL1RAPL2_chrX_104561199_105772829	105540815	T T	TATACATA others(355): Show TATACATATATTATATATCATATATAATATATACATATATTATATATCAT ATATAATATATACATATATTATATATCATATATAATATATGCATATATTA TATATCATATATAATATATACATATATTATATATCATATATAATATATAC ATATATTATATATCATATATAATATATGTATATATTATATATCATATATA ATATATGTATATATTATATATCATATATAATATATACATATATTATATAT CATATATAATATATGTATATATTATATATCATATATAATATATGTATATA TTATATATCATATATAATATATACATATATTATATATCATATATTATATA TGATATATAATAC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0070 a0001c0002t0001g0070	1	141	0.0071	362	c.772 others(381): Show c.772+56445_772+56446insCATATATAATATATACATATATTATA TATCATATATAATATATACATATATTATATATCATATATAATATATGCAT ATATTATATATCATATATAATATATACATATATTATATATCATATATAAT ATATACATATATTATATATCATATATAATATATGTATATATTATATATCA TATATAATATATGTATATATTATATATCATATATAATATATACATATATT ATATATCATATATAATATATGTATATATTATATATCATATATAATATATG TATATATTATATATCATATATAATATATACATATATTATATATCATATAT TATATATGATATATAATACATACATATATTATATAT	IL1RAPL2	ENSG00000189108.14	transcript	ENST00000372582.6	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL1RAPL2_chrX_104561199_105772829	105540815	T T	TATACATA others(355): Show TATACATATATTATATATCATATATAATATATACATATATTATATATCAT ATATAATATATACATATATTATATATCATATATAATATATGTATATATTA TATATCATATATAATATATACATATATTATATATGATATATAATATATAC ATATATTATATATGATATATAATATATACATATATTATATATCATATATA ATATATACATATATTATATATCATATATAATATATACATATATTATATAT CATATATAATATATACATATATTATATATCATATATTATATATGATATAT AATACATACATATATTATATATGATATAAAATACATACATATATTATATA TGATATATAATAC	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	141	0.0071	362	c.772 others(381): Show c.772+56445_772+56446insCATATATAATATATACATATATTATA TATCATATATAATATATACATATATTATATATCATATATAATATATGTAT ATATTATATATCATATATAATATATACATATATTATATATGATATATAAT ATATACATATATTATATATGATATATAATATATACATATATTATATATCA TATATAATATATACATATATTATATATCATATATAATATATACATATATT ATATATCATATATAATATATACATATATTATATATCATATATTATATATG ATATATAATACATACATATATTATATATGATATAAAATACATACATATAT TATATATGATATATAATACATACATATATTATATAT	IL1RAPL2	ENSG00000189108.14	transcript	ENST00000372582.6	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL1RAPL2_chrX_104561199_105772829	105540815	T T	TATACATA others(355): Show TATACATATATTATATATCATATATAATATATACATATATTATATATCAT ATATAATATATGTATATATTATATATCATATATAATATATACATATATTA TATATCATATATAATATATACATATATTATATATCATATATAATATATAC ATATATTATATATCATATATAATATATGTATATATTATATATCATATATA ATATATACATATATTATATATCATATATAATATATACATATATTATATAT CATATATAATATATACATATATTATATATCATATATTATATATGATATAT AATACATACATATATTATATATGATATAAAATACATACATATATTATATA TGATATATAATAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	141	0.0071	362	c.772 others(381): Show c.772+56445_772+56446insCATATATAATATATACATATATTATA TATCATATATAATATATGTATATATTATATATCATATATAATATATACAT ATATTATATATCATATATAATATATACATATATTATATATCATATATAAT ATATACATATATTATATATCATATATAATATATGTATATATTATATATCA TATATAATATATACATATATTATATATCATATATAATATATACATATATT ATATATCATATATAATATATACATATATTATATATCATATATTATATATG ATATATAATACATACATATATTATATATGATATAAAATACATACATATAT TATATATGATATATAATACATACATATATTATATAT	IL1RAPL2	ENSG00000189108.14	transcript	ENST00000372582.6	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL1RAPL2_chrX_104561199_105772829	105540815	T T	TATACATA others(355): Show TATACATATATTATATATCATATATAATATATACATATATTATATATCAT ATATAATATATGTATATATTATATATCATATATAATATATACATATATTA TATATCATATATAATATATACATATATTATATATGATATATAATATATAC ATATATTATATATCATATATAATATATGTATATATTATATATCATATATA ATATATACATATATTATATATCATATATAATATATACATATATTATATAT CATATATAATATATACATATATTATATATCATATATTATATATGATATAT AATACATACATATATTATATATGATATAAAATACATACATATATTATATA TGATATATAATAC	intron_variant intron_variant	MODIFIER	HG03710.hp1 NA20805.hp1 HG03710.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0140 a0001c0001t0001g0016 a0001c0001t0001g0140	2	141	0.0142	362	c.772 others(381): Show c.772+56445_772+56446insCATATATAATATATACATATATTATA TATCATATATAATATATGTATATATTATATATCATATATAATATATACAT ATATTATATATCATATATAATATATACATATATTATATATGATATATAAT ATATACATATATTATATATCATATATAATATATGTATATATTATATATCA TATATAATATATACATATATTATATATCATATATAATATATACATATATT ATATATCATATATAATATATACATATATTATATATCATATATTATATATG ATATATAATACATACATATATTATATATGATATAAAATACATACATATAT TATATATGATATATAATACATACATATATTATATAT	IL1RAPL2	ENSG00000189108.14	transcript	ENST00000372582.6	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL1RAPL2_chrX_104561199_105772829	105540815	T T	TATACATA others(355): Show TATACATATATTATATATCATATATAATATATACATATATTATATATCAT ATATAATATATGTATATATTATATATCATATATAATATATACATATATTA TATATCATATATAATATATACATATATTATATATGATATATAATATATAC ATATATTATATATCATATATAATATATGTATATATTATATATCATATATA ATATATACATATATTATATATCATATATAATATATACATATATTATATAT CATATATTATATATGATATATAATACATACATATATTATATATGATATAA AATACATACATATATTATATATGATATATAATACATACATATATTATATA TGATATATAATAC	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18986.hp1 NA18989.hp1 others(1): Show NA18747.hp1 NA18986.hp1 NA18989.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0097 others(1): Show a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0097 a0001c0001t0001g0133	4	141	0.0284	362	c.772 others(381): Show c.772+56445_772+56446insCATATATAATATATACATATATTATA TATCATATATAATATATGTATATATTATATATCATATATAATATATACAT ATATTATATATCATATATAATATATACATATATTATATATGATATATAAT ATATACATATATTATATATCATATATAATATATGTATATATTATATATCA TATATAATATATACATATATTATATATCATATATAATATATACATATATT ATATATCATATATTATATATGATATATAATACATACATATATTATATATG ATATAAAATACATACATATATTATATATGATATATAATACATACATATAT TATATATGATATATAATACATACATATATTATATAT	IL1RAPL2	ENSG00000189108.14	transcript	ENST00000372582.6	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL1RAPL2_chrX_104561199_105772829	105540815	T T	TATACATA others(355): Show TATACATATATTATATATCATATATAATATATACATATATTATATATCAT ATATAATATATGTATATATTATATATCATATATAATATATACATATATTA TATATCATATATAATATATACATATATTATATATGATATATAATATATAC ATATATTATATATGATATATAATATATACATATATTATATATCATATATA ATATATACATATATTATATATCATATATAATATATACATATATTATATAT CATATATTATATATGATATATAATACATACATATATTATATATGATATAA AATACATACATATATTATATATGATATATAATACATACATATATTATATA TGATATATAATAC	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	141	0.0071	362	c.772 others(381): Show c.772+56445_772+56446insCATATATAATATATACATATATTATA TATCATATATAATATATGTATATATTATATATCATATATAATATATACAT ATATTATATATCATATATAATATATACATATATTATATATGATATATAAT ATATACATATATTATATATGATATATAATATATACATATATTATATATCA TATATAATATATACATATATTATATATCATATATAATATATACATATATT ATATATCATATATTATATATGATATATAATACATACATATATTATATATG ATATAAAATACATACATATATTATATATGATATATAATACATACATATAT TATATATGATATATAATACATACATATATTATATAT	IL1RAPL2	ENSG00000189108.14	transcript	ENST00000372582.6	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL1RAPL2_chrX_104561199_105772829	105540815	T T	TATACATA others(355): Show TATACATATATTATATATGATATATAATATATACATATATTATATATGAT ATATAATATATGTATATATTATATATCATATATAATATATACATATATTA TATATCATATATAATATATACATATATTATATATGATATATAATATATAC ATATATTATATATCATATATAATATATGTATATATTATATATCATATATA ATATATACATATATTATATATCATATATAATATATACATATATTATATAT CATATATTATATATGATATATAATACATACATATATTATATATGATATAA AATACATACATATATTATATATGATATATAATACATACATATATTATATA TGATATATAATAC	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	141	0.0071	362	c.772 others(381): Show c.772+56456_772+56457insTATACATATATTATATATGATATATA ATATATGTATATATTATATATCATATATAATATATACATATATTATATAT CATATATAATATATACATATATTATATATGATATATAATATATACATATA TTATATATCATATATAATATATGTATATATTATATATCATATATAATATA TACATATATTATATATCATATATAATATATACATATATTATATATCATAT ATTATATATGATATATAATACATACATATATTATATATGATATAAAATAC ATACATATATTATATATGATATATAATACATACATATATTATATATGATA TATAATACATACATATATTATATATGATATATAATA	IL1RAPL2	ENSG00000189108.14	transcript	ENST00000372582.6	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
INPP5A_chr10_132532787_132788480	132774881	A A	AGAGGGGC others(355): Show AGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGA GGGGTAGGGAGAGACGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGA GGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGACGGGCAGGGAGGAGGGG CAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGAGAGGAGGGGCAG GGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGA GAGAGGGGCAGGGAGGAGGGACAGGGAGGAGAGAGGGGCAGGGGGGAGGG GCAGGGAGGAGAGACAGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCA GGGAGGAGAGAGG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	204	0.0049	362	c.978 others(379): Show c.978-2789_978-2788insAGGGGCAGGGAGGAGAGAGGGGCAGGGA GGAGGGGCAGGGAGGAGAGAGGGGTAGGGAGAGACGGGCAGGGAGGAGGG GCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGA GGACGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGA GGGGCAGAGAGGAGGGGCAGGGAGAGAGGGGCAGGGAGGAGAGAGGGGCA GGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGACAGGGAGGA GAGAGGGGCAGGGGGGAGGGGCAGGGAGGAGAGACAGGCAGGGAGGAGGG GCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
IRAG2_chr12_25047706_25113335	25077374	T T	TATATATA others(355): Show TATATATATATGATATATATATGAAATATATATGATATATATATGAAATA TATATATGATATATATATGAAATATATATGATATATATATGAAATATATA TATGATATATATATGAAATATATGATATATATATGAAATATATATATGAT ATATATATGAAATATATATATGATATATATATGAAATATATATGAAATAT ATATATGAAATATATATGATATATATGATATATATATGATATATATATGA AATATATATATGATATATATATGATATATATGAAATATATATATGATATA TATATGATATATATGAAATATATATATGATATATATATGAAATATATATG ATATATATATGAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02723.hp2 HG02965.hp2 others(1): Show HG02257.hp1 HG02723.hp2 HG02965.hp2 HG03516.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0001 a0002c0002t0001 a0003c0003t0001	a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0176 others(1): Show a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0176 a0003c0003t0001g0173	4	344	0.0116	362	c.25- others(377): Show c.25-1862_25-1861insATGATATATATATGAAATATATATGATATA TATATGAAATATATATATGATATATATATGAAATATATATGATATATATA TGAAATATATATATGATATATATATGAAATATATGATATATATATGAAAT ATATATATGATATATATATGAAATATATATATGATATATATATGAAATAT ATATGAAATATATATATGAAATATATATGATATATATGATATATATATGA TATATATATGAAATATATATATGATATATATATGATATATATGAAATATA TATATGATATATATATGATATATATGAAATATATATATGATATATATATG AAATATATATGATATATATATGAAATATATAT	IRAG2	ENSG00000118308.16	transcript	ENST00000556887.6	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
JAK1_chr1_64828229_64971549	64881269	T T	TATTAAAA others(355): Show TATTAAAATTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCC TGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCTGAGATCGC GCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0079 a0001c0003t0001g0079	1	326	0.0031	362	c.205 others(379): Show c.205+2007_205+2008insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCGATCTCAGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCT CCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCAAAATTTTAAT	JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding	3/24			chr1	TogoVar
KCNMB2_chr3_178531436_178849429	178757994	T T	TATCCAAG others(355): Show TATCCAAGAGGATATATATATATATCTCCAAGAGGATATATATATATACA CAAGAGGATATATATATATACACACAAGAGGATATATATATGTACACACA AGAGGATATATATATATATATATCCAAGAGGATATATATATATATATCCA AGAGGATATATATATATATATATATCCAAGAGGATATATATATATATATA TATATCCAAGAGGATATATATATATATATATATATCCAAGAGGATATATA TATATATATATATATCCAAGAGGATATATATATATATATATATATCCAAG AGGATATATATATATATATATATATCCAAGAGGATATATATATATATATA TATATCCAAGAGG	intron_variant intron_variant	MODIFIER	HG03688.hp2 NA18747.hp2 HG03688.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0003g0153 a0001c0002t0001g0137 a0001c0001t0003g0153 a0001c0002t0001g0137	2	232	0.0086	362	c.-67 others(381): Show c.-67-49347_-67-49346insCCAAGAGGATATATATATATATCTCC AAGAGGATATATATATATACACAAGAGGATATATATATATACACACAAGA GGATATATATATGTACACACAAGAGGATATATATATATATATATCCAAGA GGATATATATATATATATCCAAGAGGATATATATATATATATATATCCAA GAGGATATATATATATATATATATATCCAAGAGGATATATATATATATAT ATATATCCAAGAGGATATATATATATATATATATATCCAAGAGGATATAT ATATATATATATATATCCAAGAGGATATATATATATATATATATATCCAA GAGGATATATATATATATATATATATCCAAGAGGAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758241	G G	GATATATA others(355): Show GATATATATATATATATATATATCCAAGAGGATATATATATATATATATC CAAGAGGATATATATATATATATATATCCAAGAGGATATATATATATATA TATCCAAGAGGATATATATATATATATATCCAAGAGGATATATATATATA TATATATCCAAGAGGATATATATATATATATATATCCAAGAGGATATATA TATATATATATATATATCCAAGAGGATATATATATATATATATATCCAAG AGGATATATATATATATATATATCCAAGAGGATATATATCTATATATATC CAAGAGGATATATATATATATATATCCAAGAGGATATATATATATATATA TATCCAAGGGGAT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0212 a0001c0001t0003g0212	1	232	0.0043	362	c.-67 others(381): Show c.-67-49088_-67-49087insATATATATCCAAGAGGATATATATAT ATATATATCCAAGAGGATATATATATATATATATATCCAAGAGGATATAT ATATATATATATCCAAGAGGATATATATATATATATATCCAAGAGGATAT ATATATATATATATATCCAAGAGGATATATATATATATATATATCCAAGA GGATATATATATATATATATATATATCCAAGAGGATATATATATATATAT ATATCCAAGAGGATATATATATATATATATATCCAAGAGGATATATATCT ATATATATCCAAGAGGATATATATATATATATATCCAAGAGGATATATAT ATATATATATATCCAAGGGGATATATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KDM2B_chr12_121424096_121586023	121514828	C C	CTCCCCAC others(355): Show CTCCCCACACGCCAATCACACTCTCCAATCCCCATCACACTCCCCACCCG CCAATCACACTCTCCAATCCCCATCACACTCCCCACCCCCTCTAATCACA TTCCCCATCCCTCTAATCACACACCCCATCCCCTCTAATCACACTCCCCA CCCCCAATCACACTCCCCACCCCCCAATCACACTCCCCACCCCCCAATCA CACTACCCACCCCCTCTAATCACACTCCCCACCCCCAATCACACTCCCCA CCCCAATCACACTCCCCATCCCCTCTAATCACACTCCCCACCCCCAATCA CACTCCCCACCCCCAATCACACTCCCCACCCCCTCTAATCACACTCCCCA CCCCCCAATCACA	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG02258.hp1 HG03540.hp2 HG01517.hp1 HG02258.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0001 a0001c0001t0004 a0001c0002t0001	a0001c0001t0004g0209 a0001c0001t0004g0210 a0001c0002t0001g0063 a0001c0001t0004g0209 a0001c0001t0004g0210 a0001c0002t0001g0063	3	270	0.0111	362	c.104 others(381): Show c.1048-1427_1048-1426insTGTGATTGGGGGGTGGGGAGTGTGAT TAGAGGGGGTGGGGAGTGTGATTGGGGGTGGGGAGTGTGATTGGGGGTGG GGAGTGTGATTAGAGGGGATGGGGAGTGTGATTGGGGTGGGGAGTGTGAT TGGGGGTGGGGAGTGTGATTAGAGGGGGTGGGTAGTGTGATTGGGGGGTG GGGAGTGTGATTGGGGGGTGGGGAGTGTGATTGGGGGTGGGGAGTGTGAT TAGAGGGGATGGGGTGTGTGATTAGAGGGATGGGGAATGTGATTAGAGGG GGTGGGGAGTGTGATGGGGATTGGAGAGTGTGATTGGCGGGTGGGGAGTG TGATGGGGATTGGAGAGTGTGATTGGCGTGTGGGGA	KDM2B	ENSG00000089094.20	transcript	ENST00000377071.9	protein_coding	9/22			chr12	TogoVar
KIAA1549L_chr11_33371108_33679102	33403294	C C	CACACGCA others(355): Show CACACGCAGACACACAGACACGCAGACACAGATACACATACAGACATACA CACAGGGACACACACAGAGACCCAGGGACACACACACACAGACACACAGA CATAGACATATGCAGACACACACAGACACACACATGCAGACACAGACACA CATGGACACACACATGCAGACACGCGGACAGACACACACAGACACAGAGA CACACACGCAGACAGAGACACAGACATACACAGAGACCCAGGGACACACA CACACACATATGCAGACACACAGAAACACACAGACACACATAGACACATG CACACACACATGCAGACACACACAGACACACACAGACACATGCACACACA TGCAGACAGACAG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00735.hp1 HG01243.hp2 others(48): Show HG00558.hp1 HG00735.hp1 HG01243.hp2 HG01884.hp1 HG01928.hp2 HG01943.hp1 HG02004.hp1 HG02004.hp2 HG02129.hp2 HG02135.hp1 HG02148.hp2 HG02155.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02523.hp1 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02735.hp2 HG02886.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03209.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03516.hp1 HG03654.hp2 HG04199.hp2 HG04228.hp2 NA18906.hp2 NA18941.hp1 NA18942.hp2 NA18943.hp2 NA18946.hp1 NA18960.hp1 NA18968.hp2 NA18983.hp2 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA19065.hp1 NA19081.hp2 NA19091.hp2 NA19240.hp1	a0001 a0003 a0009 others(3): Show a0001 a0003 a0009 a0011 a0018 a0020	a0001c0001 a0001c0002 a0001c0003 others(27): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0013 a0001c0014 a0001c0016 a0001c0017 a0001c0018 a0001c0021 a0001c0024 a0001c0028 a0001c0029 a0001c0037 a0001c0046 a0001c0071 a0001c0075 a0001c0083 a0001c0090 a0001c0095 a0003c0032 a0009c0059 a0011c0061 a0018c0094 a0020c0060	a0001c0001t0002 a0001c0001t0004 a0001c0001t0036 others(39): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0036 a0001c0002t0002 a0001c0002t0004 a0001c0002t0008 a0001c0002t0013 a0001c0003t0002 a0001c0003t0024 a0001c0004t0012 a0001c0004t0015 a0001c0006t0012 a0001c0007t0013 a0001c0008t0003 a0001c0009t0011 a0001c0009t0068 a0001c0009t0070 a0001c0010t0002 a0001c0010t0050 a0001c0013t0002 a0001c0013t0010 a0001c0014t0047 a0001c0016t0004 a0001c0017t0002 a0001c0018t0012 a0001c0018t0023 a0001c0021t0055 a0001c0024t0037 a0001c0028t0022 a0001c0029t0002 a0001c0037t0044 a0001c0046t0001 a0001c0071t0046 a0001c0075t0007 a0001c0083t0002 a0001c0090t0004 a0001c0095t0002 a0003c0032t0034 a0009c0059t0002 a0011c0061t0038 a0018c0094t0009 a0020c0060t0002	a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0183 others(48): Show a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0183 a0001c0001t0004g0133 a0001c0001t0036g0196 a0001c0002t0002g0002 a0001c0002t0002g0124 a0001c0002t0002g0186 a0001c0002t0004g0191 a0001c0002t0008g0189 a0001c0002t0013g0129 a0001c0003t0002g0128 a0001c0003t0002g0149 a0001c0003t0002g0185 a0001c0003t0024g0146 a0001c0004t0012g0188 a0001c0004t0015g0119 a0001c0006t0012g0192 a0001c0007t0013g0001 a0001c0007t0013g0184 a0001c0008t0003g0094 a0001c0008t0003g0095 a0001c0009t0011g0096 a0001c0009t0068g0093 a0001c0009t0070g0097 a0001c0010t0002g0145 a0001c0010t0050g0120 a0001c0013t0002g0138 a0001c0013t0010g0102 a0001c0014t0047g0201 a0001c0016t0004g0187 a0001c0017t0002g0135 a0001c0018t0012g0194 a0001c0018t0023g0125 a0001c0021t0055g0099 a0001c0024t0037g0139 a0001c0028t0022g0142 a0001c0028t0022g0143 a0001c0029t0002g0127 a0001c0037t0044g0134 a0001c0046t0001g0098 a0001c0071t0046g0121 a0001c0075t0007g0118 a0001c0083t0002g0126 a0001c0090t0004g0190 a0001c0095t0002g0140 a0003c0032t0034g0141 a0009c0059t0002g0144 a0011c0061t0038g0223 a0018c0094t0009g0007 a0020c0060t0002g0155	51	226	0.2257	362	c.238 others(381): Show c.238+26409_238+26410insGCAGACACACAGACACGCAGACACAG ATACACATACAGACATACACACAGGGACACACACAGAGACCCAGGGACAC ACACACACAGACACACAGACATAGACATATGCAGACACACACAGACACAC ACATGCAGACACAGACACACATGGACACACACATGCAGACACGCGGACAG ACACACACAGACACAGAGACACACACGCAGACAGAGACACAGACATACAC AGAGACCCAGGGACACACACACACACATATGCAGACACACAGAAACACAC AGACACACATAGACACATGCACACACACATGCAGACACACACAGACACAC ACAGACACATGCACACACATGCAGACAGACAGACAC	KIAA1549L	ENSG00000110427.17	transcript	ENST00000658780.2	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr11	TogoVar

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