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
PRKAG2_chr7_151551127_151882115	151855190	C C	CCCTCCAC others(290): Show CCCTCCACACACACCATCCTCCACACACCACCCTCCACACACACCACCCT CCACACACACCATGCTCCACACACCACCCTCCACACACCACCCTCCACAC ACACCATCCACACACCACCCTCCACACACACCATGCTCCACACACACCGC CCTCCACACACACCATCCTCCACACACACCATGCTCCACACACCACCCTC CACACACCACCCTCTACCACCCTCCACACACCACCATCCACACACACCAC GCTCCACACACACCGCCCTCCACACACACCATCCTCCACACACACCAT	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp2 HG03490.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0129 a0001c0001t0014g0130 a0001c0001t0014g0129 a0001c0001t0014g0130	2	222	0.0090	297	c.114 others(316): Show c.114+21316_114+21317insATGGTGTGTGTGGAGGATGGTGTGTG TGGAGGGCGGTGTGTGTGGAGCGTGGTGTGTGTGGATGGTGGTGTGTGGA GGGTGGTAGAGGGTGGTGTGTGGAGGGTGGTGTGTGGAGCATGGTGTGTG TGGAGGATGGTGTGTGTGGAGGGCGGTGTGTGTGGAGCATGGTGTGTGTG GAGGGTGGTGTGTGGATGGTGTGTGTGGAGGGTGGTGTGTGGAGGGTGGT GTGTGGAGCATGGTGTGTGTGGAGGGTGGTGTGTGTGGAGGGTGGTGTGT GGAGGATGGTGTGTGTGGAGG	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15			chr7	TogoVar
PRUNE2_chr9_76606376_76911114	76716027	A A	AAAGAAGA others(290): Show AAAGAAGACACACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGC GCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCC TGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCC GGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCA GGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCC	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA18989.hp1 NA19003.hp1 others(1): Show HG02071.hp1 NA18989.hp1 NA19003.hp1 NA19068.hp1	a0005 a0010 a0005 a0010	a0005c0007 a0010c0013 a0005c0007 a0010c0013	a0005c0007t0001 a0010c0013t0001 a0010c0013t0002 a0005c0007t0001 a0010c0013t0001 a0010c0013t0002	a0005c0007t0001g0076 a0005c0007t0001g0126 a0010c0013t0001g0042 others(1): Show a0005c0007t0001g0076 a0005c0007t0001g0126 a0010c0013t0001g0042 a0010c0013t0002g0128	4	230	0.0174	297	c.757 others(314): Show c.757-2307_757-2306insGGGAGGCCGAGGCGGGCGGATCACGAGG TCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACT AAAAATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAG CTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGC TTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGC GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAGAAATGTGTGTCTTCTT	PRUNE2	ENSG00000106772.19	transcript	ENST00000376718.8	protein_coding	6/18			chr9	TogoVar
PTPRM_chr18_7562316_8411856	7725569	T T	TAAAAACC others(290): Show TAAAAACCCCAGAGCCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGA GGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGG TGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGC GGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGT GAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTC CAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01891.hp1 HG02630.hp1 others(1): Show HG00639.hp2 HG01891.hp1 HG02630.hp1 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0001c0016 others(1): Show a0001c0001 a0001c0006 a0001c0016 a0002c0007	a0001c0001t0002 a0001c0006t0004 a0001c0016t0001 others(1): Show a0001c0001t0002 a0001c0006t0004 a0001c0016t0001 a0002c0007t0001	a0001c0001t0002g0037 a0001c0006t0004g0070 a0001c0016t0001g0057 others(1): Show a0001c0001t0002g0037 a0001c0006t0004g0070 a0001c0016t0001g0057 a0002c0007t0001g0054	4	77	0.0519	297	c.74- others(314): Show c.74-48566_74-48565insCTCATGCCTGTAATCCCAGCACTTTGGG AGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCT AAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCG TAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGA ATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCAC TGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAA AAAAAAAAAACCCCAGAGC	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	1/32		INFO_REALIGN_3_PRIME	chr18	TogoVar
RAB11FIP3_chr16_420649_528011	493662	A A	AGTGGTGC others(290): Show AGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCACTCCA TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCATCACC ACACCTGGCTAACTTTTGTATTTTTAGTAGACACGGGGTTTCACCATGTC TCAATCTCCGGACCTCGTGATCCGCCCGCCTTGACCCCCCAAAGTGCTGG GATTACAGGCTGAGCCACTGCACCCAGCCTGCCTGGAGGTATATTATCTT TTTCTTTTTTGAGACAGAGTCTCGATCTGTCACCCAGGCTGGAGTGCG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01069.hp2 HG00438.hp1 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0020 a0001c0001t0001 a0001c0001t0020	a0001c0001t0001g0224 a0001c0001t0020g0244 a0001c0001t0001g0224 a0001c0001t0020g0244	2	294	0.0068	297	c.126 others(316): Show c.1266-3028_1266-2732dupGGGGTTTCACCATGTCTCAATCTCCG GACCTCGTGATCCGCCCGCCTTGACCCCCCAAAGTGCTGGGATTACAGGC TGAGCCACTGCACCCAGCCTGCCTGGAGGTATATTATCTTTTTCTTTTTT GAGACAGAGTCTCGATCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCT CGGCTCACTGCAACCTCTGCCTCCCGGGTTCACTCCATTCTCCTGCCTCA GCCTCCCGAGTAGCTGGGACTACAGGCGCCCATCACCACACCTGGCTAAC TTTTGTATTTTTAGTAGACAC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB3C_chr5_58578075_58864394	58597109	T T	TATATATA others(290): Show TATATATAATACATAATATATATTATATAATATATATAATACATAATATA TATTATATAATATATATAATACATTATATATATTATATAATATATATAAT ACATTATATATATTATATAATATATATAATACATTATATATATTATATAA TATATATAATACATTATATATATTATATAATATATATAATACATTATATA TATTATATAATATATATAATACATTATATATATTATATAATATATAATAC ATTATATTTTATATAATATAGATAATACATTATATATATTATATAATA	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0051 a0001c0001t0027g0051	1	61	0.0164	297	c.24+ others(314): Show c.24+13898_24+13899insTTATATAATATATATAATACATAATATA TATTATATAATATATATAATACATTATATATATTATATAATATATATAAT ACATTATATATATTATATAATATATATAATACATTATATATATTATATAA TATATATAATACATTATATATATTATATAATATATATAATACATTATATA TATTATATAATATATATAATACATTATATATATTATATAATATATAATAC ATTATATTTTATATAATATAGATAATACATTATATATATTATATAATAAT ATATAATACATAATATATA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAB7B_chr1_205971740_206008395	205985737	C C	CCCCACCA others(290): Show CCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCAGGCCCA CCAGGCCCACCATCCCCACCATCCCCACCAGGCCCACCATCCCCACCAGG CCCACCAGGCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCAC CATCCCCACCAGGCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCC CCATCAGGCCCACCAGGCCCACCATCCCCACCAGGCCCACCAGGCCCACC ATCCCCATCAGGCCCACCAGGCCCACCATCCCCACCATCCCCACCAGG	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	119	0.0084	297	c.397 others(310): Show c.397-73_397-72insCCTGGTGGGGATGGTGGGGATGGTGGGCCTGG TGGGCCTGATGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGGC CTGGTGGGCCTGATGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGT GGGCCTGGTGGGGATGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGA TGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGGCCTGGTGGGGATGGTG GGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGGCCTGGTGGGCCT GGTGGGGATGGTGGG	RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding	4/5			chr1	TogoVar
RAB7B_chr1_205971740_206008395	205985737	C C	CCCCACCA others(290): Show CCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCATCCCCA CCAGGCCCACCAGGCCCACCATCCCCACCAGGCCCACCAGGCCCACCATC CCCACCAGGCCCACCAGGCCCACCATCCCCACCATCCCCACCAGGCCCAC CATCCCCATCAGGCTCACCAGGCCCACCATCCCCACCAGGCCCACCAGGC CCACCATCCCCACCATCCCCACCAGGCCCACCATCCCCACCAGGCCTACC AGGCCCACCATCCCCACCAGGCCCACCATCCCCATCAGGCTCACCAGG	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA19009.hp1 HG00673.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0233 a0001c0001t0002g0261 a0001c0001t0002g0233 a0001c0001t0002g0261	2	120	0.0167	297	c.397 others(310): Show c.397-73_397-72insCCTGGTGAGCCTGATGGGGATGGTGGGCCTGG TGGGGATGGTGGGCCTGGTAGGCCTGGTGGGGATGGTGGGCCTGGTGGGG ATGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGGCCTGGT GAGCCTGATGGGGATGGTGGGCCTGGTGGGGATGGTGGGGATGGTGGGCC TGGTGGGCCTGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGTG GGCCTGGTGGGCCTGGTGGGGATGGTGGGGATGGTGGGCCTGGTGGGCCT GGTGGGGATGGTGGG	RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding	4/5			chr1	TogoVar
RAB7B_chr1_205971740_206008395	205985758	C C	CACCAGGC others(290): Show CACCAGGCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCA GGCCCACCAGGCCCACCATCCCCACCATCCCCACCAGGCCCACCATCCCC ACCAGGCCTACCAGGCCCACCATCCCCATCAGGCCCACCAGGCCCACCAT CCCCACCAGGCCCACCAGGCCCACCATCCCCACCAGGCCCACCAGGCCCA CCATCCCCATCAGGCTCACCAGGCCCACCATCCCCACCAGGCCCACCAGG CCCACCATCCCCACCATCCCCACCAGGCCCACCATCCCCACCAGGCCT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	300	0.0033	297	c.397 others(310): Show c.397-94_397-93insAGGCCTGGTGGGGATGGTGGGCCTGGTGGGGA TGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGGCCTGGTG AGCCTGATGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGGCCT GGTGGGCCTGGTGGGGATGGTGGGCCTGGTGGGCCTGATGGGGATGGTGG GCCTGGTAGGCCTGGTGGGGATGGTGGGCCTGGTGGGGATGGTGGGGATG GTGGGCCTGGTGGGCCTGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGG GATGGTGGGCCTGGT	RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding	4/5			chr1	TogoVar
RAB7B_chr1_205971740_206008395	205985758	C C	CACCAGGC others(290): Show CACCAGGCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCA GGCCCACCATCCCCACCATCCCCACCAGGCCCACCATCCCCATCAGGCCC ACCATCCCCACCAGGCCCACCATCCCCACCAGGCCCACCAGGCCCACCAT CCCCACCAGGCCCACCAGGCCCACCATCCCCACCATCCCCACCAGGCCCA CCATCCCCATCAGGCTCACCAGGCCCACCATCCCCACCAGGCCCACCAGG CCCACCATCCCCACCATCCCCACCAGGCCCACCATCCCCACCAGGCCT	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0255 a0001c0001t0002g0255	1	300	0.0033	297	c.397 others(310): Show c.397-94_397-93insAGGCCTGGTGGGGATGGTGGGCCTGGTGGGGA TGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGGCCTGGTG AGCCTGATGGGGATGGTGGGCCTGGTGGGGATGGTGGGGATGGTGGGCCT GGTGGGCCTGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGG GCCTGGTGGGGATGGTGGGCCTGATGGGGATGGTGGGCCTGGTGGGGATG GTGGGGATGGTGGGCCTGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGG GATGGTGGGCCTGGT	RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding	4/5			chr1	TogoVar
RAB7B_chr1_205971740_206008395	205985758	C C	CACCAGGC others(290): Show CACCAGGCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCA TCCCCACCAGGCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCC ATCAGGCCCACCAGGCCCACCATCCCCACCAGGCCCACCAGGCCCACCAT CCCCACCAGGCCCACCAGGCCCACCATCCCCACCATCCCCACCAGGCCCA CCATCCCCACCAGGCTCACCAGGCCCACCATCCCCACCAGGCCCACCAGG CCCACCATCCCCACCATCCCCACCAGGCCCACCATCCCCACCAGGCCT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0068 a0001c0001t0002g0068	1	300	0.0033	297	c.397 others(310): Show c.397-94_397-93insAGGCCTGGTGGGGATGGTGGGCCTGGTGGGGA TGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGGCCTGGTG AGCCTGGTGGGGATGGTGGGCCTGGTGGGGATGGTGGGGATGGTGGGCCT GGTGGGCCTGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGG GCCTGGTGGGCCTGATGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATG GTGGGCCTGGTGGGGATGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGG GATGGTGGGCCTGGT	RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding	4/5			chr1	TogoVar
RAB7B_chr1_205971740_206008395	205985782	C C	CCCCACCA others(290): Show CCCCACCAGGCCCACCAGGCCCACCATCCCCACCAGGCCCACCAGGCCCA CCATCCCCACCATCCCCACCAGGCCCACCAGGCCCACCAGGCCCACCATC CCCACCAGGCCCACCAGGCCCACCATCCCCACCAGGCCCACCAGGCCCAC CATCCCCACCATCCCCACCAGGCCCACCATCCCCATCAGGCTCACCAGGC CCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCATCCCCACC AGGCCCACCATCCCCACCAGGCCTACCAGGCCCACCATCCCCATCAGG	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	56	0.0179	297	c.397 others(312): Show c.397-118_397-117insCCTGATGGGGATGGTGGGCCTGGTAGGCCT GGTGGGGATGGTGGGCCTGGTGGGGATGGTGGGGATGGTGGGCCTGGTGG GCCTGGTGGGGATGGTGGGCCTGGTGAGCCTGATGGGGATGGTGGGCCTG GTGGGGATGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGG CCTGGTGGGCCTGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGCCTGG TGGGGATGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGGC CTGGTGGGCCTGGTGGG	RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding	4/5			chr1	TogoVar
RANBP10_chr16_67718070_67811560	67782758	T T	TCACTTTT others(290): Show TCACTTTTAAGAGCCATCTCTTAAAAGCCACTTTTAAGAGCCATCTCTTA AAAGCCACTTTTAAGAGCCATCTCTTAAAAGCCACTTTTAAGAGCCATCT CTTAAAAGCCACTTTTAAGAGCCATCTCTTAAAAGCCACTTTTAAGAGCC ATCTCTTAAAAGCCACTTTTAAGAGCCATCTCTTAAAAGCCACTTTTAAG AGCCATCTCTTAAAAGCCACTTTTAAGAGCCATCTCTTAAAAGCCACTTT TAAGAGCCATCTCTTAAAAGCCACTTTTAAGAGCCATCTCTTAAAAGC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01891.hp2 HG02647.hp1 others(9): Show HG01109.hp2 HG01891.hp2 HG02647.hp1 HG02717.hp1 HG02922.hp2 HG03209.hp1 HG03225.hp1 HG03471.hp1 HG03471.hp2 HG03516.hp1 NA18522.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0013	a0001c0001t0001g0054 a0001c0001t0001g0062 a0001c0001t0001g0065 others(9): Show a0001c0001t0001g0054 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0146 a0001c0001t0002g0078 a0001c0001t0003g0059 a0001c0001t0013g0077	12	52	0.2308	297	c.348 others(316): Show c.348-10673_348-10672insGCTTTTAAGAGATGGCTCTTAAAAGT GGCTTTTAAGAGATGGCTCTTAAAAGTGGCTTTTAAGAGATGGCTCTTAA AAGTGGCTTTTAAGAGATGGCTCTTAAAAGTGGCTTTTAAGAGATGGCTC TTAAAAGTGGCTTTTAAGAGATGGCTCTTAAAAGTGGCTTTTAAGAGATG GCTCTTAAAAGTGGCTTTTAAGAGATGGCTCTTAAAAGTGGCTTTTAAGA GATGGCTCTTAAAAGTGGCTTTTAAGAGATGGCTCTTAAAAGTGGCTTTT AAGAGATGGCTCTTAAAAGTG	RANBP10	ENSG00000141084.12	transcript	ENST00000317506.8	protein_coding	2/13			chr16	TogoVar
RAP1GAP2_chr17_2791438_3042741	3001592	G G	GATCAGCC others(290): Show GATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGACAGAAGAAGCAGG GAGTGCAGGTCCAAGCACCAGGCTGAAGTGAGGCTGGTGGAGGTAACAGT ATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGACAGAAGAAGCAGGG AGTGCAGGTCCAAGCTCCAGGCTGAAGTGAGGCTGGTGGAGGTAACAGTA TCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGACAGAAGAAGCAGGGA GTGCAGGTCCAAGCACCAGGCTGAAGTGAGGCTCGTGGAGGTAACAGA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0028 a0001c0002t0028	a0001c0002t0028g0060 a0001c0002t0028g0060	1	184	0.0054	297	c.120 others(316): Show c.1200+3252_1200+3253insCAGAAGAAGCAGGGAGTGCAGGTCCA AGCACCAGGCTGAAGTGAGGCTGGTGGAGGTAACAGTATCAGCCTCAGGG CCTTCCTGATGCCGGAGAAGGGACAGAAGAAGCAGGGAGTGCAGGTCCAA GCTCCAGGCTGAAGTGAGGCTGGTGGAGGTAACAGTATCAGCCTCAGGGC CTTCCTGATGCCGGAGAAGGGACAGAAGAAGCAGGGAGTGCAGGTCCAAG CACCAGGCTGAAGTGAGGCTCGTGGAGGTAACAGAATCAGCCTCAGGGCC TTCCTGATGCCGGAGAAGGGA	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79495513	G G	GAGGTGGG others(290): Show GAGGTGGGGGAGGGGTGCAGAGGGTGGGGAGGTGGGGGAAAGGGTACTGG GGCAGGGATGGGGGTGCAGGAAGGTGGGAAGGTGGGGGAGGGGTGCAGAG GGTGGGGAGGTGGGGGCAGGGTACTGGGGGCAGGGATGGGGATGTGGGAA GGTGGGGGAGGGGTGCAGAGGGTGGGGAGGTGGGGGAAAGGGTACTGGGG GCAGGGATGGGGATGCAGGAAGGTGGGAAGGTGGGGGAGGGGTGCAGAGG GTGGGGAGGTGGGGCAGGGGTACTGGGGGCAGGGATGGGGATGCGGGA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02976.hp1 HG03453.hp1 HG02258.hp1 HG02976.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0013 a0001c0001t0005 a0001c0001t0006 a0001c0001t0013	a0001c0001t0005g0142 a0001c0001t0006g0125 a0001c0001t0013g0070 a0001c0001t0005g0142 a0001c0001t0006g0125 a0001c0001t0013g0070	3	112	0.0268	297	c.-31 others(318): Show c.-319-12916_-319-12915insTCCCGCATCCCCATCCCTGCCCCC AGTACCCCTGCCCCACCTCCCCACCCTCTGCACCCCTCCCCCACCTTCCC ACCTTCCTGCATCCCCATCCCTGCCCCCAGTACCCTTTCCCCCACCTCCC CACCCTCTGCACCCCTCCCCCACCTTCCCACATCCCCATCCCTGCCCCCA GTACCCTGCCCCCACCTCCCCACCCTCTGCACCCCTCCCCCACCTTCCCA CCTTCCTGCACCCCCATCCCTGCCCCAGTACCCTTTCCCCCACCTCCCCA CCCTCTGCACCCCTCCCCCACCT	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RER1_chr1_2386841_2410436	2401381	C C	CTCCCTCC others(290): Show CTCCCTCCCTCCTCCTCCCTCCTTCCTCCCTCCTTCCTCCTCCCTCCTTC CTCCCTCCTTCCTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCCTCCTCCC TCCTCCCTTCTTCCTCCCTCCTCCTCCCTTCTTCCTCCTCCTCCCTCCTC CCCCTCCTCCCTCCCCCTCCTCCCTCCCTCCTCCCCCCTCCTCCCTCCTT CCTCCCTCCTCCTCCCTCCCTCCTCCTTCCTCCCTCCTCCTTCCTCCCTC CTTCCTCCCTCCTCCTCCCTCCTTCCTCCCTCCCTCCTCCTCCCTCCT	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0166 a0001c0001t0003g0166	1	229	0.0044	297	c.365 others(312): Show c.365+449_365+450insCTCCCTCCTCCTCCCTCCTTCCTCCCTCCT TCCTCCTCCCTCCTTCCTCCCTCCTTCCTCCTCCCTCCTTCCTCCCTCCT CCTCCCTCCTCCTCCCTCCTCCCTTCTTCCTCCCTCCTCCTCCCTTCTTC CTCCTCCTCCCTCCTCCCCCTCCTCCCTCCCCCTCCTCCCTCCCTCCTCC CCCCTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCCCTCCTCCTTCCTCCC TCCTCCTTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCCTTCCTCCCTCCC TCCTCCTCCCTCCTTCC	RER1	ENSG00000157916.20	transcript	ENST00000605895.6	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RIMS1_chr6_71881550_72408145	72043662	T T	TGCTAATG others(290): Show TGCTAATGTACTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCCAGACTGCGGACTGCAGTGGCGCAATC TCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGG TCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0070 a0001c0006t0002g0070	1	131	0.0076	297	c.246 others(316): Show c.246-53273_246-53272insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCAGACTGCGGACTGCAGT GGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTC TCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCG CCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAG CCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCC CAAAGTGGCTAATGTACTATT	RIMS1	ENSG00000079841.20	transcript	ENST00000521978.6	protein_coding	2/33		INFO_REALIGN_3_PRIME	chr6	TogoVar
RTEL1_chr20_63653312_63701245	63693633	A A	ACCTCCAC others(290): Show ACCTCCACCTCCACCACCACCACCACCACCTCCACCACCACCTCCACCTT CACCACCACCACCTCCACCACCTCCACCTCCACCTCCACCACCTCCACCT CCACCACCTCCACCACCTCCACCTCCACCTCCACCTCCACCTCCACCTCC ACCACCTCTACCTCCACCTCCACCTCCACCTCCACCACCTCCACCTCCAC CTCCACCTCCACCTCCACCACGTCCACCACCTCCACCTCCACCTCCACCA CCACCTCCACCACCACCACCTCCACCTCCACCTCCACCACCTCCACCT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	53	0.0189	297	c.299 others(314): Show c.2992+352_2992+353insTCCACCTCCACCACCACCACCACCACCT CCACCACCACCTCCACCTTCACCACCACCACCTCCACCACCTCCACCTCC ACCTCCACCACCTCCACCTCCACCACCTCCACCACCTCCACCTCCACCTC CACCTCCACCTCCACCTCCACCACCTCTACCTCCACCTCCACCTCCACCT CCACCACCTCCACCTCCACCTCCACCTCCACCTCCACCACGTCCACCACC TCCACCTCCACCTCCACCACCACCTCCACCACCACCACCTCCACCTCCAC CTCCACCACCTCCACCTCC	RTEL1	ENSG00000258366.12	transcript	ENST00000360203.11	protein_coding	30/34		INFO_REALIGN_3_PRIME	chr20	TogoVar
RXFP1_chr4_158516882_158658372	158628943	T T	TAAGGCCG others(290): Show TAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGC CGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGGCCATCCCAGCTAAAA CGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTAG TGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATG GCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGC ACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0102 a0002c0002t0001g0102	1	148	0.0068	297	c.899 others(312): Show c.899+236_899+237insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GGCCATCCCAGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAA	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
SCNN1D_chr1_1275436_1297025	1284171	G G	GGGGGGGT others(290): Show GGGGGGGTTGGGTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGAGGGGGG TGGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTG GGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGG TGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGT GGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGG GTTGGGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGAGTGA	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0154 a0003c0004t0003g0154	1	164	0.0061	297	c.464 others(310): Show c.464+86_464+87insGTTGGGTGAGGGGGGTGGGGTTGGGGGGGGTT GAGTGAGGGGGGTGGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGG GTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGG TGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGGGGTTG GGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGG TGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGG GGTTGAGTGAGGGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1284171	G G	GGGGGGTT others(290): Show GGGGGGTTGGGTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGAGGGGGGT GGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGGTTG GGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGG TGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGT GGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGG GTTGGGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGAGTGA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0023 a0023	a0023c0039 a0023c0039	a0023c0039t0002 a0023c0039t0002	a0023c0039t0002g0140 a0023c0039t0002g0140	1	164	0.0061	297	c.464 others(310): Show c.464+91_464+92insTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGA GGGGGGTGGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGG GGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGG TGTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGA GGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGG GGTTGGGGTTGGGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTG AGTGAGGGGGTTGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1284171	G G	GGGGGGTT others(290): Show GGGGGGTTGGGTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGAGGGGGGT GGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGG GTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGT GAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTG GGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGG TTGGGTGAGGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGAGTGA	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0143 a0003c0004t0003g0143	1	164	0.0061	297	c.464 others(310): Show c.464+91_464+92insTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGA GGGGGGTGGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGG GGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGT GTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAG GGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGG GTTGGGGTTGGGTGAGGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTG AGTGAGGGGGTTGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289848	T T	TCTCTGCT others(290): Show TCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGT CCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTC TCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC CCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTC TGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCC CGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCC	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0172 a0001c0001t0002g0172	1	239	0.0042	297	c.166 others(314): Show c.1663-422_1663-421insTCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTC TCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGT CCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTC TGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCC CGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCC CCGTCCCGTGTCTCTGCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SEC24B_chr4_109428815_109545896	109489465	T T	TGTGCAGT others(290): Show TGTGCAGTCCCCACTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGA TGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02922.hp1 HG01884.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0067 a0001c0001t0010g0070 a0001c0001t0001g0067 a0001c0001t0010g0070	2	213	0.0094	297	c.116 others(316): Show c.1166-1845_1166-1844insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGT GGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTC TCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACG CCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAG CCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCC CAAAGTGCAGTCCCCACTTCT	SEC24B	ENSG00000138802.11	transcript	ENST00000265175.5	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
SERINC2_chr1_31408213_31439678	31431776	A A	AATAGGGT others(290): Show AATAGGGTGGTTAGGGTGGTTAGGGTGGATAGGATGGTTAGGGTGGACAG GGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGTTAGGGTGG TTAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGG GTGGATAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGGTTAGGGTGGT TAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGG TGGATAGGGTGGATAGGATGGTTAGGGTGGTTAGGGTGGATAGGGTGG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0358 a0002c0002t0001g0358	1	259	0.0039	297	c.101 others(316): Show c.1014-1182_1014-1181insTTAGGGTGGTTAGGGTGGATAGGATG GTTAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAG GGTGGTTAGGGTGGTTAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGG ATAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGTTAGG GTGGTTAGGGTGGTTAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGT TAGGGTGGATAGGGTGGATAGGGTGGATAGGATGGTTAGGGTGGTTAGGG TGGATAGGGTGGATAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31431776	A A	AATAGGGT others(290): Show AATAGGGTGGTTAGGGTGGTTAGGGTGGATAGGATGGTTAGGGTGGATAG GGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGG ACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGG GTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGA GAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAGAGGG TGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGG	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0069 a0001c0003t0002g0069	1	259	0.0039	297	c.101 others(316): Show c.1014-1182_1014-1181insTTAGGGTGGTTAGGGTGGATAGGATG GTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAG GGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGG ACAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGG GTGGTTAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGA TAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGG TGGATAGGGTGGATAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31431867	A A	ATAGGGTG others(290): Show ATAGGGTGGATAGGGTGGTTAGGGTGGACAGGGTGGACAGGGTGGACAGG GTGGACAGGGTGGTTAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGA TAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGG TGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAC AGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGTTAGGGT GGATAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0008 a0002c0006t0008	a0002c0006t0008g0215 a0002c0006t0008g0215	1	331	0.0030	297	c.101 others(316): Show c.1014-1091_1014-1090insTAGGGTGGTTAGGGTGGACAGGGTGG ACAGGGTGGACAGGGTGGACAGGGTGGTTAGGGTGGATAGGGTGGAGAGG GTGGAGAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGA TAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGG TGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGAT AGGGTGGTTAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGT GGATAGGGTGGTTAGGGTGGA	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31431886	C C	CAGGGTGG others(290): Show CAGGGTGGACAGGGTGGACAGGGTGGTTAGGGTGGATAGGGTGGACAGGG TGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGAT AGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACA GGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTG GACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAT	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0341 a0002c0002t0001g0341	1	181	0.0055	297	c.101 others(316): Show c.1014-1073_1014-1072insCAGGGTGGACAGGGTGGTTAGGGTGG ATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGG GTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGA TAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGG TGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAC AGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGT GGATAGGGTGGATAGGGTGGA	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERPINB6_chr6_2943159_2976567	2972360	C C	CAAGAAAC others(290): Show CAAGAAACTCAAACAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCAGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACAGTGAAACCCCGCCTCTACTAAAAATACAAAAAAAA TTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18960.hp1 NA19004.hp1 NA18960.hp1 NA19004.hp1	a0002 a0005 a0002 a0005	a0002c0003 a0005c0011 a0002c0003 a0005c0011	a0002c0003t0001 a0005c0011t0001 a0002c0003t0001 a0005c0011t0001	a0002c0003t0001g0068 a0005c0011t0001g0048 a0002c0003t0001g0068 a0005c0011t0001g0048	2	299	0.0067	297	c.-83 others(306): Show c.-839_-838insTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCA TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACC ACGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGGCGGGGTTTCACTGT GTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCTG CCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTGT TTGAGTTTCTT	SERPINB6	ENSG00000124570.21	transcript	ENST00000380539.7	protein_coding		794		chr6	TogoVar
SH3BP4_chr2_234947017_235060714	235010748	C C	CAACCCTT others(290): Show CAACCCTTCCTCCCTCTCCTAGAACCCTTCTTCCCTCTCCTAGGAGAACC TTTCCTCCCTCTCGTAGAACCCTTCCTCACTCTCCTAGGAGAACCCTTCC TCCCTCTCCTAGGAGAACCCTTCCTCCCTCTCCTAGAACCCTTCTTCCCT CTCCTAGGAGAACCTTTCCTCCCTCTCCTAGAACCCTTCCTCACTCTCCT AGGAGAACCCTTCCTCCCTCTCCTAGAACCCTTCCTCACTCTCCTAGGAG AACCCTTCCTCCCTCTCCTAGGAGAACCCTTCCTCCCTCTCCTAGGAG	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02615.hp1 HG02647.hp2 others(1): Show HG01358.hp2 HG02615.hp1 HG02647.hp2 HG02818.hp2	a0001 a0004 a0001 a0004	a0001c0004 a0004c0005 a0001c0004 a0004c0005	a0001c0004t0001 a0004c0005t0002 a0001c0004t0001 a0004c0005t0002	a0001c0004t0001g0282 a0004c0005t0002g0010 a0004c0005t0002g0281 others(1): Show a0001c0004t0001g0282 a0004c0005t0002g0010 a0004c0005t0002g0281 a0004c0005t0002g0283	4	249	0.0161	297	c.-13 others(318): Show c.-133+15393_-133+15394insAACCCTTCTTCCCTCTCCTAGGAG AACCTTTCCTCCCTCTCGTAGAACCCTTCCTCACTCTCCTAGGAGAACCC TTCCTCCCTCTCCTAGGAGAACCCTTCCTCCCTCTCCTAGAACCCTTCTT CCCTCTCCTAGGAGAACCTTTCCTCCCTCTCCTAGAACCCTTCCTCACTC TCCTAGGAGAACCCTTCCTCCCTCTCCTAGAACCCTTCCTCACTCTCCTA GGAGAACCCTTCCTCCCTCTCCTAGGAGAACCCTTCCTCCCTCTCCTAGG AGAACCCTTCCTCCCTCTCCTAG	SH3BP4	ENSG00000130147.16	transcript	ENST00000392011.7	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3BP4_chr2_234947017_235060714	235010769	G G	GAACCCTT others(290): Show GAACCCTTCTTCCCTCTCCTAGGAGAACCTTTCCTCCCTCTCGTAGAACC CTTCCTCACTCTCCTAGGAGAACCCTTCCTCCCTCTCCTAGGAGAACCCT TCCTCCCTCTCCTAGGAGAACCCTTCCTCCTTCTCCTAGGAGAACCCTTC CTCCCTCTCCTAGAACCCTTCTTCCCTCTCCTAGGAGAACCCTTCCTCCC TCTCCTAGGAGAACCCTTCCTCCCTCTCCTAGGAGAACCCTTCCTCCCTC TCCTAGAACCCTTCTTCCCTCTCCTAGGAGAACCTTTCCTCCCTCTCC	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0083 a0001c0002t0003g0083	1	205	0.0049	297	c.-13 others(318): Show c.-133+15393_-133+15394insAACCCTTCTTCCCTCTCCTAGGAG AACCTTTCCTCCCTCTCGTAGAACCCTTCCTCACTCTCCTAGGAGAACCC TTCCTCCCTCTCCTAGGAGAACCCTTCCTCCCTCTCCTAGGAGAACCCTT CCTCCTTCTCCTAGGAGAACCCTTCCTCCCTCTCCTAGAACCCTTCTTCC CTCTCCTAGGAGAACCCTTCCTCCCTCTCCTAGGAGAACCCTTCCTCCCT CTCCTAGGAGAACCCTTCCTCCCTCTCCTAGAACCCTTCTTCCCTCTCCT AGGAGAACCTTTCCTCCCTCTCC	SH3BP4	ENSG00000130147.16	transcript	ENST00000392011.7	protein_coding	2/5			chr2	TogoVar
SLC12A7_chr5_1045384_1117063	1098780	A A	ACCCAGCC others(290): Show ACCCAGCCCCCCTCTAACCCTCTGCACACCCAGACCCCCTCTAACCCTCT GCTCACCCAGCCCCCCTCTAACCCTCTGCACGCCCAGCCCCCCTCTAACC CTCTGCACACCCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCCTCT AACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCACC CTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCTCACCCAGC CCCCTTCTAACCCTCTGCATGCCCAGGCCCCCTCTAACCCTCTGCATG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0011 a0001c0006t0011	a0001c0006t0011g0078 a0001c0006t0011g0078	1	101	0.0099	297	c.125 others(314): Show c.125-4533_125-4532insCATGCAGAGGGTTAGAGGGGGCCTGGGC ATGCAGAGGGTTAGAAGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGGCT GGGTGTGCAGAGGGTTAGAGGGTGGCTGGGTGAGCAGAGGGTTAGAGGGG GGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGAGCAGAGGGTTAGA GGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGCGTGCAGAGGGT TAGAGGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGTCTGGGTGTGCAGA GGGTTAGAGGGGGGCTGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1098780	A A	ACCCAGCC others(290): Show ACCCAGCCCCCCTCTAACCCTCTGCACACCCAGACCCCCTCTAACCCTCT GCTCACCCAGCCCCCCTCTAACCCTCTGCACGCCCAGCCCCCCTCTAACC CTCTGCACGCCCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCCTCT AACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCACC CTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCTCACCCAGC CCCCTTCTAACCCTCTGCATGCCCAGGCCCCCTCTAACCCTCTGCATG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0006 a0006	a0006c0019 a0006c0019	a0006c0019t0009 a0006c0019t0009	a0006c0019t0009g0013 a0006c0019t0009g0013	1	101	0.0099	297	c.125 others(314): Show c.125-4533_125-4532insCATGCAGAGGGTTAGAGGGGGCCTGGGC ATGCAGAGGGTTAGAAGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGGCT GGGTGTGCAGAGGGTTAGAGGGTGGCTGGGTGAGCAGAGGGTTAGAGGGG GGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGAGCAGAGGGTTAGA GGGGGGCTGGGCGTGCAGAGGGTTAGAGGGGGGCTGGGCGTGCAGAGGGT TAGAGGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGTCTGGGTGTGCAGA GGGTTAGAGGGGGGCTGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SLC35F1_chr6_117902264_118322671	118304985	C C	CAGTCAAA others(290): Show CAGTCAAAGATCTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01255.hp1 HG02129.hp1 others(1): Show HG00544.hp1 HG01255.hp1 HG02129.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0014 a0001c0001t0009 a0001c0001t0014	a0001c0001t0009g0065 a0001c0001t0009g0091 a0001c0001t0009g0096 others(1): Show a0001c0001t0009g0065 a0001c0001t0009g0091 a0001c0001t0009g0096 a0001c0001t0014g0130	4	73	0.0548	297	c.100 others(316): Show c.1003-9029_1003-9028insTTTTTTTTTTTTTTTTTTTTTTTTCT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTA ATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATG GTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGC TGGGATTAGTCAAAGATCTTT	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC38A7_chr16_58660109_58689770	58673092	T T	TTTTTTTT others(290): Show TTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA GTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAC GCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGC CACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACC GTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTC GGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0206 a0001c0001t0036g0206	1	390	0.0026	297	c.884 others(312): Show c.884-850_884-849insGGCCGGGCGCAGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAA	SLC38A7	ENSG00000103042.9	transcript	ENST00000219320.9	protein_coding	8/11			chr16	TogoVar
SLC38A9_chr5_55620848_55717324	55696708	C C	CCCCCAAC others(290): Show CCCCCAACCTCCCTCCCGGACGGGGTGGCTGCCAGGCGGGGGGCTGACCC CCCCACCTCCCTCCCGGACGGGGTGGCTGCCGGGTGGGGGGCTGACCCCC CCCACCTCCCTCCCGGACGGGGTGGCTGCCGGGTGGGGGGCTGACCCCCC CCACCTCCCTCCCGGACGGGGTGGCTGCCGGGTGGGGGGCTGACCCCCCC CCACATCCCTCCCGGACGGGGTGGCTGCCGGGTGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGTGGCTGCCAGGTGGGGGGCTGACCCCCCG	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19030.hp1 NA19010.hp2 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0218 a0002c0002t0001g0229 a0002c0002t0001g0218 a0002c0002t0001g0229	2	195	0.0103	297	c.113 others(314): Show c.113+1137_113+1138insCGGGGGGTCAGCCCCCCACCTGGCAGCC ACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCACCCGGCAGCCAC CCCGTCCGGGAGGGATGTGGGGGGGGGTCAGCCCCCCACCCGGCAGCCAC CCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCACCCGGCAGCCACC CCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCACCCGGCAGCCACCC CGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCAGCCACCCCG TCCGGGAGGGAGGTTGGGG	SLC38A9	ENSG00000177058.12	transcript	ENST00000396865.7	protein_coding	3/15			chr5	TogoVar
SLC38A9_chr5_55620848_55717324	55696708	C C	CCCCCAAC others(290): Show CCCCCAACCTCCCTCCCGGACGGGGTGGCTGCCAGGCGGGGGGCTGACCC CCCCACCTCCCTCCCGGACGGGGTGGCTGCCGGGTGGGGGGCTGACCCCC CCCACCTCCCTCCCGGACGGGGTGGCTGCCGGGTGGGGGGCTGACCCCCC CCCACCTCCCTCCCGGACGGGGTGGCTGCCGGGTGGGGGGCTGACCCCCC CCACATCCCTCCCGGACGGGGTGGCTGCCGGGTGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGTGGCTGCCAGGTGGGGGGCTGACCCCCCG	intron_variant intron_variant	MODIFIER	HG04115.hp2 NA19000.hp2 HG04115.hp2 NA19000.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0208 a0002c0002t0001g0226 a0002c0002t0001g0208 a0002c0002t0001g0226	2	195	0.0103	297	c.113 others(314): Show c.113+1137_113+1138insCGGGGGGTCAGCCCCCCACCTGGCAGCC ACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCACCCGGCAGCCAC CCCGTCCGGGAGGGATGTGGGGGGGGTCAGCCCCCCACCCGGCAGCCACC CCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCACCCGGCAGCCACC CCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCACCCGGCAGCCACCC CGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCAGCCACCCCG TCCGGGAGGGAGGTTGGGG	SLC38A9	ENSG00000177058.12	transcript	ENST00000396865.7	protein_coding	3/15			chr5	TogoVar
SLC38A9_chr5_55620848_55717324	55696708	C C	CCCCCAAC others(290): Show CCCCCAACCTCCCTCCCGGACGGGGTGGCTGCCAGGCGGGGGGCTGACCC CCCCACCTCCCTCCCGGACGGGGTGGCTGCCGGGTGGGGGGCTGACCCCC CCCACCTCCCTCCCGGACGGGGTGGCTGCCGGGTGGGGGGGCTGACCCCC CCCACCTCCCTCCCGGACGGGGTGGCTGCCGGGTGGGGGGCTGACCCCCC CCACATCCCTCCCGGACGGGGTGGCTGCCGGGTGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGTGGCTGCCAGGTGGGGGGCTGACCCCCCG	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0320 a0002c0002t0001g0320	1	194	0.0052	297	c.113 others(314): Show c.113+1137_113+1138insCGGGGGGTCAGCCCCCCACCTGGCAGCC ACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCACCCGGCAGCCAC CCCGTCCGGGAGGGATGTGGGGGGGGTCAGCCCCCCACCCGGCAGCCACC CCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCACCCGGCAGCCACC CCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCACCCGGCAGCCACCC CGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCAGCCACCCCG TCCGGGAGGGAGGTTGGGG	SLC38A9	ENSG00000177058.12	transcript	ENST00000396865.7	protein_coding	3/15			chr5	TogoVar
SLC38A9_chr5_55620848_55717324	55696708	C C	CCCCCAAC others(290): Show CCCCCAACCTCCCTCCCGGACGGGGTGGCTGCCAGGCGGGGGGCTGACCC CCCCACCTCCCTCCCGGACGGGGTGGCTGCCGGGTGGGGGGCTGACCCCC CCCCACCTCCCTCCCGGACGGGGTGGCTGCCGGGTGGGGGGCTGACCCCC CCCACCTCCCTCCCGGACGGGGTGGCTGCCGGGTGGGGGGCTGACCCCCC CCACATCCCTCCCGGACGGGGTGGCTGCCGGGTGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGTGGCTGCCAGGTGGGGGGCTGACCCCCCG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03710.hp2 HG04199.hp2 HG02622.hp1 HG03710.hp2 HG04199.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0230 a0002c0002t0001g0264 a0002c0002t0001g0272 a0002c0002t0001g0230 a0002c0002t0001g0264 a0002c0002t0001g0272	3	196	0.0153	297	c.113 others(314): Show c.113+1137_113+1138insCGGGGGGTCAGCCCCCCACCTGGCAGCC ACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCACCCGGCAGCCAC CCCGTCCGGGAGGGATGTGGGGGGGGTCAGCCCCCCACCCGGCAGCCACC CCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCACCCGGCAGCCACCC CGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCACCCGGCAGCCACCC CGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCAGCCACCCCG TCCGGGAGGGAGGTTGGGG	SLC38A9	ENSG00000177058.12	transcript	ENST00000396865.7	protein_coding	3/15			chr5	TogoVar
SLC38A9_chr5_55620848_55717324	55696708	C C	CCCCCAAC others(290): Show CCCCCAACCTCCCTCCCGGACGGGGTGGCTGCCAGGCGGGGGGCTGACCC CCCCCACCTCCCTCCCGGACGGGGTGGCTGCCGGGTGGGGGGCTGACCCC CCCCACCTCCCTCCCGGACGGGGTGGCTGCCGGGTGGGGGGCTGACCCCC CCCACCTCCCTCCCGGACGGGGTGGCTGCCGGGTGGGGGGCTGACCCCCC CCACATCCCTCCCGGACGGGGTGGCTGCCGGGTGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGTGGCTGCCAGGTGGGGGGCTGACCCCCCG	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0211 a0002c0002t0001g0211	1	194	0.0052	297	c.113 others(314): Show c.113+1137_113+1138insCGGGGGGTCAGCCCCCCACCTGGCAGCC ACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCACCCGGCAGCCAC CCCGTCCGGGAGGGATGTGGGGGGGGTCAGCCCCCCACCCGGCAGCCACC CCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCACCCGGCAGCCACCC CGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCACCCGGCAGCCACCCC GTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCTGGCAGCCACCCCG TCCGGGAGGGAGGTTGGGG	SLC38A9	ENSG00000177058.12	transcript	ENST00000396865.7	protein_coding	3/15			chr5	TogoVar
SLC38A9_chr5_55620848_55717324	55696708	C C	CCCCCCAA others(290): Show CCCCCCAACCTCCCTCCCGGACGGGGTGGCTGCCAGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGTGGCTGCCGGGTGGGGGGCTGACCCC CCCCACCTCCCTCCCGGACGGGGTGGCTGCCGGGTGGGGGGCTGACCCCC CCCACCTCCCTCCCGGACGGGGTGGCTGCCGGGTGGGGGGCTGACCCCCC CCACATCCCTCCCGGACGGGGTGGCTGCCGGGTGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGTGGCTGCCAGGTGGGGGGCTGACCCCCCG	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18975.hp2 NA18939.hp2 NA18975.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0266 a0002c0002t0001g0273 a0002c0002t0001g0266 a0002c0002t0001g0273	2	195	0.0103	297	c.113 others(314): Show c.113+1137_113+1138insCGGGGGGTCAGCCCCCCACCTGGCAGCC ACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCACCCGGCAGCCAC CCCGTCCGGGAGGGATGTGGGGGGGGTCAGCCCCCCACCCGGCAGCCACC CCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCACCCGGCAGCCACCC CGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCACCCGGCAGCCACCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCAGCCACCCCGT CCGGGAGGGAGGTTGGGGG	SLC38A9	ENSG00000177058.12	transcript	ENST00000396865.7	protein_coding	3/15			chr5	TogoVar
SLC66A2_chr18_79897420_79956653	79920075	G G	GGGGAGAG others(290): Show GGGGAGAGACGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGG AACCGAGGGAGAGGTCAGGGTCAGTGGGGAGAGACAGGAACCGAGGGAGA GGTCAAGGTCAGTGAGGAGAGACAGAACCGAGGGAGAGGTCAGGGTCAGT GAGGAGAGACGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACGGA ACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACGGAACCGAGGGAGAGG TCAAGGTCAGTGAGGAGAGACGGAACCGAGGGAGAGGTCAGGGTCAGT	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	349	0.0029	297	c.392 others(312): Show c.392-676_392-675insACTGACCCTGACCTCTCCCTCGGTTCCGTC TCTCCTCACTGACCTTGACCTCTCCCTCGGTTCCGTCTCTCCTCACTGAC CTTGACCTCTCCCTCGGTTCCGTCTCTCCTCACTGACCTTGACCTCTCCC TCGGTTCCGTCTCTCCTCACTGACCCTGACCTCTCCCTCGGTTCTGTCTC TCCTCACTGACCTTGACCTCTCCCTCGGTTCCTGTCTCTCCCCACTGACC CTGACCTCTCCCTCGGTTCCTGTCTCTCCTCACTGACCTTGACCTCTCCC TCGGTTCCGTCTCTCCC	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC9A3_chr5_465456_529449	507739	A A	ACAGACGC others(290): Show ACAGACGCCCGAATCTCCACCCCACAGACGCCCGAATCCCCACCCCACAG ACGCCCGAATCCCCACCCCGCAGACGCCCGAATCCTCACCCCGCAGACGC CCGAATCCCCACCCCGCAGACGCCCGAATCCTCACCCCGCAGACGCCCGA ATCCCCACCCCGCAGACGCCCGAATCCCCACCCCGCAGACGCCCGAATCC CCACCCCGCAGACGCCCGAATCCCCACCCCACAGACGCCCGAATCCCCAC CCCACAGACGCCCGAATCCCCACCCCACAGACGCCCGAATCCCCACCC	intron_variant intron_variant	MODIFIER	HG02451.hp2 NA20300.hp2 HG02451.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0139 a0001c0001t0007g0033 a0001c0001t0001g0139 a0001c0001t0007g0033	2	112	0.0179	297	c.212 others(316): Show c.212-15669_212-15668insGGGTGGGGATTCGGGCGTCTGTGGGG TGGGGATTCGGGCGTCTGTGGGGTGGGGATTCGGGCGTCTGTGGGGTGGG GATTCGGGCGTCTGCGGGGTGGGGATTCGGGCGTCTGCGGGGTGGGGATT CGGGCGTCTGCGGGGTGGGGATTCGGGCGTCTGCGGGGTGAGGATTCGGG CGTCTGCGGGGTGGGGATTCGGGCGTCTGCGGGGTGAGGATTCGGGCGTC TGCGGGGTGGGGATTCGGGCGTCTGTGGGGTGGGGATTCGGGCGTCTGTG GGGTGGAGATTCGGGCGTCTG	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SLC9A3_chr5_465456_529449	507739	A A	ACAGACGC others(290): Show ACAGACGCCCGAATCTCCACCCCACAGACGCCCGAATCCCCACCCCGCAG ACGCCCGAATCCCCACCCCGCAGACGCCCGAATCCTCACCCCGCAGACGC CCGAATCCCCACCCCGCAGACGCCCGAATCCTCACCCCGCAGACGCCCGA ATCCCCACCCCGCAGACGCCCGAATCCCCACCCCGCAGACGCCCGAATCC CCACCCCGCAGACGCCCGAATCCCCACCCCACAGACGCCCGAATCCCCAC CCCACAGACGCCCGAATCCACACCCCACAGACGCCCGAATCCCCACCC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	111	0.0090	297	c.212 others(316): Show c.212-15669_212-15668insGGGTGGGGATTCGGGCGTCTGTGGGG TGTGGATTCGGGCGTCTGTGGGGTGGGGATTCGGGCGTCTGTGGGGTGGG GATTCGGGCGTCTGCGGGGTGGGGATTCGGGCGTCTGCGGGGTGGGGATT CGGGCGTCTGCGGGGTGGGGATTCGGGCGTCTGCGGGGTGAGGATTCGGG CGTCTGCGGGGTGGGGATTCGGGCGTCTGCGGGGTGAGGATTCGGGCGTC TGCGGGGTGGGGATTCGGGCGTCTGCGGGGTGGGGATTCGGGCGTCTGTG GGGTGGAGATTCGGGCGTCTG	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SMAP1_chr6_70662883_70867003	70767567	T T	TAAGAATG others(290): Show TAAGAATGCTTGTGCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGA GGTCAGGAGATCGAGACCATCCCGGCTAAAATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCC AGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGA GCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGA GCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	304	0.0033	297	c.339 others(314): Show c.339-5770_339-5769insCCAGCACTTTGGGAGGCCGAGGCGGGCG GATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAATGGTGAAACCC CGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCT GTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGG GAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGG GCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAGAATGCTTGTG	SMAP1	ENSG00000112305.15	transcript	ENST00000370455.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMIM17_chr19_56638159_56662247	56640958	T T	TTATGTTA others(290): Show TTATGTTACAGTAGGATAATGAAGAATTGGAACCAATAATTCAATCTACC ACACGTAATGGTGGCATGTAGCTATAATTTTTTAATCGTGATTTTATTTC CCTTTTAGGTTATGGCACTTGAAACTGGCTTTCCACTTATAGGAGTGCTG TAAAGTTTCCATTTAAAGGTACTTCTTAAATGGTTTTAGAAAACGAATTC ATTTTAAATAAAAATATTAAGTAAATAGGAATGCAGGGATGTTATGTGTA AATGAAAGCAATCATGAAGATGTTACTCATTGCTGCAGAAACAGGGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02615.hp2 HG02717.hp1 others(5): Show HG02486.hp1 HG02615.hp2 HG02717.hp1 HG02965.hp2 HG03540.hp1 HG03540.hp2 NA19030.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0010 a0001c0001t0030 a0001c0001t0007 a0001c0001t0010 a0001c0001t0030	a0001c0001t0007g0056 a0001c0001t0010g0021 a0001c0001t0010g0204 others(3): Show a0001c0001t0007g0056 a0001c0001t0010g0021 a0001c0001t0010g0204 a0001c0001t0010g0205 a0001c0001t0010g0206 a0001c0001t0030g0203	8	416	0.0192	297	c.-23 others(308): Show c.-2353_-2352insTATGTTACAGTAGGATAATGAAGAATTGGAACCA ATAATTCAATCTACCACACGTAATGGTGGCATGTAGCTATAATTTTTTAA TCGTGATTTTATTTCCCTTTTAGGTTATGGCACTTGAAACTGGCTTTCCA CTTATAGGAGTGCTGTAAAGTTTCCATTTAAAGGTACTTCTTAAATGGTT TTAGAAAACGAATTCATTTTAAATAAAAATATTAAGTAAATAGGAATGCA GGGATGTTATGTGTAAATGAAAGCAATCATGAAGATGTTACTCATTGCTG CAGAAACAGGGCA	SMIM17	ENSG00000268182.6	transcript	ENST00000598409.6	protein_coding		2200		chr19	TogoVar
SNED1_chr2_240993618_241100568	241052693	G G	GCCAAGCA others(290): Show GCCAAGCAGGGTACATGGGACACCAGTGCGAGGCAGGTGAGATGGCCGGG GGGCTGAGCAGGGTACATGGGATACCAGTGCCAGGCAGGTGAGAGGGCCA GGGCCCAAGCAGGGTACATGGGATACCAGTGCCAGGCAGGTGAGATGGCC AGGGCCCAAGCAGGGTACATGGGATACCAGTGCCAGGCAGGTGAGAGGGC CAGGGCCCAAGCAGGGTACATGGGATACCAGTGCCAGGCAGGTGAGATGG CCAGGGCCCAAGCAGGGTACATGGGATACCAGTGCCAGGCAGGTGAGA	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0011 a0002c0003t0004g0011	1	333	0.0030	297	c.208 others(314): Show c.2083+225_2083+226insCCAAGCAGGGTACATGGGACACCAGTGC GAGGCAGGTGAGATGGCCGGGGGGCTGAGCAGGGTACATGGGATACCAGT GCCAGGCAGGTGAGAGGGCCAGGGCCCAAGCAGGGTACATGGGATACCAG TGCCAGGCAGGTGAGATGGCCAGGGCCCAAGCAGGGTACATGGGATACCA GTGCCAGGCAGGTGAGAGGGCCAGGGCCCAAGCAGGGTACATGGGATACC AGTGCCAGGCAGGTGAGATGGCCAGGGCCCAAGCAGGGTACATGGGATAC CAGTGCCAGGCAGGTGAGA	SNED1	ENSG00000162804.15	transcript	ENST00000310397.13	protein_coding	15/31			chr2	TogoVar
SNTG2_chr2_945849_1372613	1167915	G G	GCCTACAG others(290): Show GCCTACAGGCCGCCCACAGACGACAGAACTGAAGCCTACAGGCCGCCCAC AGACGGCAGAACTGAAACCTACAGGCCGCCCACAGACGGCAGAACTGAAG CCTAGAAGCCGCCCACAGACGGCAGAACTGAAGCCTACAGGCCGCCCACA GACGGCAGAACTGAAACCTACAGGCCGCCCACAGACGGCAGAACTGAAGC CTAGAAGCCGCCCACAGACGGCAGAACTGAAGCCTACAGGCCGCCCACAG ACGGCAGTACTGAAGCCTACAGGCCGCCCACAGACGGCAGAACTGAAA	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG02165.hp2 HG02895.hp1 others(7): Show HG01517.hp1 HG02165.hp2 HG02895.hp1 HG02922.hp1 HG02965.hp1 HG03453.hp2 HG03486.hp1 NA18522.hp2 NA19000.hp1 NA20129.hp1	a0001 a0003 a0008 others(2): Show a0001 a0003 a0008 a0014 a0017	a0001c0002 a0003c0007 a0003c0008 others(3): Show a0001c0002 a0003c0007 a0003c0008 a0008c0031 a0014c0032 a0017c0036	a0001c0002t0001 a0001c0002t0002 a0003c0007t0001 others(4): Show a0001c0002t0001 a0001c0002t0002 a0003c0007t0001 a0003c0008t0001 a0008c0031t0001 a0014c0032t0001 a0017c0036t0001	a0001c0002t0001g0041 a0001c0002t0001g0069 a0001c0002t0001g0141 others(7): Show a0001c0002t0001g0041 a0001c0002t0001g0069 a0001c0002t0001g0141 a0001c0002t0002g0002 a0003c0007t0001g0060 a0003c0008t0001g0105 a0003c0008t0001g0190 a0008c0031t0001g0117 a0014c0032t0001g0062 a0017c0036t0001g0070	10	187	0.0535	297	c.499 others(314): Show c.499+2284_499+2285insCAGGCCGCCCACAGACGACAGAACTGAA GCCTACAGGCCGCCCACAGACGGCAGAACTGAAACCTACAGGCCGCCCAC AGACGGCAGAACTGAAGCCTAGAAGCCGCCCACAGACGGCAGAACTGAAG CCTACAGGCCGCCCACAGACGGCAGAACTGAAACCTACAGGCCGCCCACA GACGGCAGAACTGAAGCCTAGAAGCCGCCCACAGACGGCAGAACTGAAGC CTACAGGCCGCCCACAGACGGCAGTACTGAAGCCTACAGGCCGCCCACAG ACGGCAGAACTGAAACCTA	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1167953	C C	CAGGCCGC others(290): Show CAGGCCGCCCACAGACGGCAGAACTGAAACCTACAGGCCGCCCACAGACG GCAGAACTGAAGCCTAGAAGCCGCCCACAGACGGCAGAACTGAAGCCTAC AGGCCGCCCACAGACGGCAGAACTGAAACCTACAGGCCGCCCACAGACGG CAGAACTGAAGCCTAGAAGCCGCCCACAGACGGCAGAACTGAAGCCTACA GGCCGCCCACAGACGGCAGTACTGAAGCCTACAGGCCGCCCACAGACGGC AGAACTGAAACCTACAAGCCGCCCACAGATGGCAGAACTGAAGCCTAG	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0019 a0019	a0019c0030 a0019c0030	a0019c0030t0001 a0019c0030t0001	a0019c0030t0001g0160 a0019c0030t0001g0160	1	172	0.0058	297	c.499 others(314): Show c.499+2319_499+2320insGGCCGCCCACAGACGGCAGAACTGAAAC CTACAGGCCGCCCACAGACGGCAGAACTGAAGCCTAGAAGCCGCCCACAG ACGGCAGAACTGAAGCCTACAGGCCGCCCACAGACGGCAGAACTGAAACC TACAGGCCGCCCACAGACGGCAGAACTGAAGCCTAGAAGCCGCCCACAGA CGGCAGAACTGAAGCCTACAGGCCGCCCACAGACGGCAGTACTGAAGCCT ACAGGCCGCCCACAGACGGCAGAACTGAAACCTACAAGCCGCCCACAGAT GGCAGAACTGAAGCCTAGA	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SOCS5_chr2_46694295_46768129	46701811	T T	TTTTTTTT others(290): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGAC TGCAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0137 a0001c0002t0003g0137	1	129	0.0078	297	c.-13 others(314): Show c.-13+2365_-13+2366insTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGC CTCCCAAGTAGCTGGGACTGCAGGCGCCCGCCACTACGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCTTT	SOCS5	ENSG00000171150.9	transcript	ENST00000394861.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
SOCS7_chr17_38346844_38410593	38387650	A A	ATATATTG others(290): Show ATATATTGTATATATACTATATATTGTATATTATATATACTATATAGTAT AATATACAATATATAGTATATTATATACTATATAGTATAATATACTATAT ACAGTATATTATATATACTATATACAGTATAATATATATACTATATACTG TATATTATATATACAATATACAGTATATTATATATACAATATATAGTATA TATAATATACAGTATATAGTATATATAATATACAGTATATAGTATATATA ATATACTATATATAGTATATATACAATATACTATATATGTTTATACTG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0030 a0001c0004t0030	a0001c0004t0030g0024 a0001c0004t0030g0024	1	180	0.0056	297	c.168 others(316): Show c.1682-7645_1682-7644insACTATATATTGTATATTATATATACT ATATAGTATAATATACAATATATAGTATATTATATACTATATAGTATAAT ATACTATATACAGTATATTATATATACTATATACAGTATAATATATATAC TATATACTGTATATTATATATACAATATACAGTATATTATATATACAATA TATAGTATATATAATATACAGTATATAGTATATATAATATACAGTATATA GTATATATAATATACTATATATAGTATATATACAATATACTATATATGTT TATACTGTATATTGTATATAT	SOCS7	ENSG00000274211.6	transcript	ENST00000612932.6	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr17	TogoVar

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