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
NXN_chr17_794310_984776	841610	A A	AGAGCATC others(493): Show AGAGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCA CGCCGGCGAGCAGGTCCCCCCGACCACAGAGCATCTCACACGGGCGAGCA GGTCCACCCTGACCACGGCGCATCTCACGCCGGCGAGCAGGTCCCCCCGA CCACAGAGCATCTCACACTGGCGAGCAGGTCCCCCCTGACCACAGCGCAT CTCACACCCGCGAGCAGGTCCTCCCGACCATGGAGCATCTCACGCCGGCG AGCAGGTCCACCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCC CCTGACCACGGCGCATCTCACACCCGCGAGCAGGTCCTCCCGACCATGGA GCATCTCACGCCGGCGAGCAGGTCCCCCCGACCACAGAGCATCTCACACG GGCGAGCAGGTCCCCCCGACCACGGCGCATCTCACACCCACAGGCAGGTC CCCCCGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCAC G	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0170 a0001c0001t0002g0170	1	64	0.0156	500	c.361 others(519): Show c.361-15533_361-15532insCGTGGTCAGGGGGGACCTGCTCGCCC GTGTGAGATGCGCCGTGGTCGGGGGGACCTGCCTGTGGGTGTGAGATGCG CCGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCTCTGTGGTCGGGG GGACCTGCTCGCCGGCGTGAGATGCTCCATGGTCGGGAGGACCTGCTCGC GGGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGAT GCGCCGTGGTCAGGGTGGACCTGCTCGCCGGCGTGAGATGCTCCATGGTC GGGAGGACCTGCTCGCGGGTGTGAGATGCGCTGTGGTCAGGGGGGACCTG CTCGCCAGTGTGAGATGCTCTGTGGTCGGGGGGACCTGCTCGCCGGCGTG AGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCTCTGT GGTCGGGGGGACCTGCTCGCCGGCGTGAGATGCGCCGTGGTCAGGGTGGA CCTGCTCGCCCGTGTGAGATGCTC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	841612	A A	AGCATCTC others(493): Show AGCATCTCACGCCGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACA CGGGCGAGCAGGTCCCCCCTGACCACGGCGCATCTCACACCCGCGAGCAG GTCCTCCCGACCACAGCGCATCTCACACGGGCGAGCAGGTCCCCCCTGAC CACAGCGCATCTCACACGGGCGAGCAGGTCCCCCCGACCACAGCGCATCT CACACGGGCAAGCAGGTCCACCCTGACCACGGCGCATCTCACACCCGCGA GCAGGTCCTCCCGACCATGGAGCATCTCACGCCGGCGAGCAGGTCCCCCC TGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCGACCACGGCGC ATCTCACACCCACGGGCAGGTCCCCCCGACCACGGCGCATCTCACACGGG CGAGCAGGTCCACCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCC CCCCGACCACGGCGCATCTCACACCCACAGGCAGGTCCCCCCGACCACGG C	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA18522.hp1 HG03130.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0008 a0001c0001t0009g0009 a0001c0001t0009g0008 a0001c0001t0009g0009	2	141	0.0142	500	c.361 others(519): Show c.361-15535_361-15534insGCCGTGGTCGGGGGGACCTGCCTGTG GGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGC GCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGG GGGGACCTGCCCGTGGGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCTC GCCCGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCTCGCCGGCGTGAG ATGCTCCATGGTCGGGAGGACCTGCTCGCGGGTGTGAGATGCGCCGTGGT CAGGGTGGACCTGCTTGCCCGTGTGAGATGCGCTGTGGTCGGGGGGACCT GCTCGCCCGTGTGAGATGCGCTGTGGTCAGGGGGGACCTGCTCGCCCGTG TGAGATGCGCTGTGGTCGGGAGGACCTGCTCGCGGGTGTGAGATGCGCCG TGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGGG GACCTGCTCGCCGGCGTGAGATGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OPRL1_chr20_64075082_64105633	64088840	G G	GGATCTGT others(493): Show GGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGC AGAGTGGCCAGGATCTGTGCAGGGAGGCCAGGATCTGTGCAGAGTGGCCA GGATCTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGCCAGGATCTGTGC AGAGTGGCCAGGATCTGTGAAGAGTGGCCAGGATCTGTGCAGGGAGGGCA GGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGC AGGGAGGGTAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCA GGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGC AGGGAGGGCAGGATCTGTGCAGAGCGGCCAGGATCTGTGCAGAGTGGCCA GGATCTGTGCAGGGAAGGCAGGATCTGTGCAGAGTGGCCAGGATCCGTGC AGAGTGGCCAGGATCCGTGCAGAGTGGCCAGGATCCGTGCAGGGAGGCCA T	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01167.hp2 HG01169.hp2 others(21): Show HG01074.hp1 HG01167.hp2 HG01169.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG02074.hp1 HG02165.hp1 HG02165.hp2 HG02559.hp2 HG02602.hp2 HG02897.hp2 HG02970.hp1 HG02970.hp2 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp1 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0011 a0001c0001t0016 a0001c0001t0020 a0001c0001t0021 a0001c0005t0006	a0001c0001t0001g0052 a0001c0001t0002g0003 a0001c0001t0002g0038 others(16): Show a0001c0001t0001g0052 a0001c0001t0002g0003 a0001c0001t0002g0038 a0001c0001t0002g0046 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0003g0002 a0001c0001t0003g0009 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0006g0004 a0001c0001t0011g0048 a0001c0001t0016g0009 a0001c0001t0020g0020 a0001c0001t0021g0015 a0001c0005t0006g0013	24	60	0.4000	500	c.-18 others(519): Show c.-184-3115_-184-3114insAGTGGCCAGGATCTGTGCAGAGTGGC CAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGCCAGGATCTGT GCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGC CAGGATCTGTGCAGAGTGGCCAGGATCTGTGAAGAGTGGCCAGGATCTGT GCAGGGAGGGCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGC CAGGATCTGTGCAGGGAGGGTAGGATCTGTGCAGAGTGGCCAGGATCTGT GCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGC CAGGATCTGTGCAGGGAGGGCAGGATCTGTGCAGAGCGGCCAGGATCTGT GCAGAGTGGCCAGGATCTGTGCAGGGAAGGCAGGATCTGTGCAGAGTGGC CAGGATCCGTGCAGAGTGGCCAGGATCCGTGCAGAGTGGCCAGGATCCGT GCAGGGAGGCCATGATCTGTGCAG	OPRL1	ENSG00000125510.18	transcript	ENST00000336866.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(493): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATAACATATATGTATTACATATATGTATTACATATATAACATATAT GTATTACATATATGTATTACATATATAACATATATGTATTACATATATGT ATTACATATATAACATATATGTATTACATATATGTATTACATATATAACA TATATGTATTACATATATGTATTACATATATAACATATATGTATTACATA TATGTATTACATATATAACATATATGTATTACATATATGTATTACATATA TAACATATATGTATTACATATATGTAATACATATATAACATGTATTACAT ATATGTAATACATATATAACATGTATTACATATATGTAATACATATATAA C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	122	0.0082	500	c.70 others(511): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATAACATATATGTATTACATATATGTATTAC ATATATAACATATATGTATTACATATATGTATTACATATATAACATATAT GTATTACATATATGTATTACATATATAACATATATGTATTACATATATGT ATTACATATATAACATATATGTATTACATATATGTATTACATATATAACA TATATGTATTACATATATGTATTACATATATAACATATATGTATTACATA TATGTATTACATATATAACATATATGTATTACATATATGTAATACATATA TAACATGTATTACATATATGTAATACATATATAACATGTATTACATATAT GTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(493): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATAACATATAT GTATTACATATATGTATTACATATATAACATATATGTATTACATATATGT ATTACATATATAACATATATGTATTACATATATGTATTACATATATAACA TATATGTATTACATATATGTAATACATATATAACATATATGTATTACATA TATGTATTACATATATAACATATATGTATTACATATATGTAATACATATA TAACATATATGTATTACATATATGTAATACATATATAACATGTATTACAT ATATGTAATACATATATAACATGTATTACATATATGTAATACACATATAA C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	122	0.0082	500	c.70 others(511): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATAACATATATGTATTACATATATGTATTACATATATAACATATAT GTATTACATATATGTATTACATATATAACATATATGTATTACATATATGT ATTACATATATAACATATATGTATTACATATATGTAATACATATATAACA TATATGTATTACATATATGTATTACATATATAACATATATGTATTACATA TATGTAATACATATATAACATATATGTATTACATATATGTAATACATATA TAACATGTATTACATATATGTAATACATATATAACATGTATTACATATAT GTAATACACATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(493): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATAACATATATGTATTACATATATGT ATTACATATATAACATATATGTATTACATATATGTATTACATATATAACA TATATGTATTACATATATGTATTACATATATAACATATATGTATTACATA TATGTATTACATATATAACATATATGTATTACATATATGTAATACATATA TAACATATATGTATTACATATATGTAATACATATATAACATGTATTACAT ATATGTAATACACATATAACATGTATTACATATATGTAATACACATATAA C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	122	0.0082	500	c.70 others(511): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATAACATATAT GTATTACATATATGTATTACATATATAACATATATGTATTACATATATGT ATTACATATATAACATATATGTATTACATATATGTATTACATATATAACA TATATGTATTACATATATGTATTACATATATAACATATATGTATTACATA TATGTAATACATATATAACATATATGTATTACATATATGTAATACATATA TAACATGTATTACATATATGTAATACACATATAACATGTATTACATATAT GTAATACACATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(493): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATAACA TATATGTATTACATATATGTATTACATATATAACATATATGTATTACATA TATGTATTACATATATAACATATATGTATTACATATATGTAATACATATA TAACATATATGTATTACATATATGTAATACATATATAATATGTATTACAT ATATGTAATACATATATAACATGTATTACATATATGTAATACATATATAA C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0012 a0001c0001t0005g0012	1	122	0.0082	500	c.70 others(511): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATAACATATATGTATTACATATATGTATTACATATATAACA TATATGTATTACATATATGTATTACATATATAACATATATGTATTACATA TATGTAATACATATATAACATATATGTATTACATATATGTAATACATATA TAATATGTATTACATATATGTAATACATATATAACATGTATTACATATAT GTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PDCD1_chr2_241844884_241863894	241848193	T T	TTGAGTTC others(493): Show TTGAGTTCTGGATGCTGGCGCGCCGCGCTGTCAGTGGATGAATGAGAGAC GTGAGTTCTGGACGCTGGTGCACAGCGCTGTCAATGGATGAATGAAAGCC TTGAGTTCTGGATGCTGGCGCGCTGCGCTGTGAATGGGTGTATGAGAGCC TTGAGTTCTGGATGCTGGTGCGCTGCGCTGTCAATGGATGAATGAGAGCC GTGAGTTCCGGATGCTGGCGCGCTGCGCTGTGAATGGGTGTTTGAGAGCC TTGAGTTCTGGATGCTGGCGCGCTGCGCTGTCAGTGGATGAATGAGAGAC GTGAGTTCTGGATGCTAGCGCGCTGCGCTGTCAATGGATGAATGAGAGCC GTGAGTTCTGGATGCTGGCGCGCTGCGCTGTGAATGGGTGTTTGAGAGCC TTGAGTTCTGGATGCTGGCGCGCTGCGCTGTCAATGGATGAATGAGAGCC TTGAGTTCTGGATGCTGGCGCGCTGCGCTGTCAGTGGATGAATGAGAGAC G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0115 a0002c0003t0002g0115	1	311	0.0032	500	c.28 others(511): Show c.2864_*2865insCGTCTCTCATTCATCCACTGACAGCGCAGCGCGC CAGCATCCAGAACTCAAGGCTCTCATTCATCCATTGACAGCGCAGCGCGC CAGCATCCAGAACTCAAGGCTCTCAAACACCCATTCACAGCGCAGCGCGC CAGCATCCAGAACTCACGGCTCTCATTCATCCATTGACAGCGCAGCGCGC TAGCATCCAGAACTCACGTCTCTCATTCATCCACTGACAGCGCAGCGCGC CAGCATCCAGAACTCAAGGCTCTCAAACACCCATTCACAGCGCAGCGCGC CAGCATCCGGAACTCACGGCTCTCATTCATCCATTGACAGCGCAGCGCAC CAGCATCCAGAACTCAAGGCTCTCATACACCCATTCACAGCGCAGCGCGC CAGCATCCAGAACTCAAGGCTTTCATTCATCCATTGACAGCGCTGTGCAC CAGCGTCCAGAACTCACGTCTCTCATTCATCCACTGACAGCGCGGCGCGC CAGCATCCAGAACTCA	PDCD1	ENSG00000188389.11	transcript	ENST00000334409.10	protein_coding		1690		chr2	TogoVar
PDCD1_chr2_241844884_241863894	241848743	G G	GTGAGTTC others(493): Show GTGAGTTCCGGATGCTGGCGCGCTGCGCTGTGAATGGGTGTTTGAGAGCC TTGAGTTCTGGATGCTGGCGCGCTGCGCTGTCAGTGGATGAATGAGAGAC GTGAGTTCTGGATGCTAGCGCGCTGCGCTGTCAATGGATGAATGAGAGCC GTGAGTTCTGGATGCTGGCGCGCTGCGCTGTGAATGGGTGTTTGAGAGCC TTGAGTTCTGGATGCTGGCGCGCTGCGCTGTCAATGGATGAATGAGAGCC TTGAGTTCTGGATGCTGGCGCGCTGCGCTGTCAGTGGATGAATGAGAGAC GTGAGTTCTGGATGCTGGCGCGCTGCGCTGTGAATGGGTGTATGAGAGCC TTGAGTTCTGGATGCTGGCGCGCTGCGCTGTGAATGGGTGTTTGAGAGCC TTGAGTTCTGGATGCTGGCGCGCTGCGCTGACAATGGATGAATGAGAGCC TTGAGTTCTGGATGCTGGCGCGCTGCGCTGTGAATGGGTGTTTGAGAGCC T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0115 a0002c0003t0002g0115	1	314	0.0032	500	c.23 others(511): Show c.2314_*2315insAGGCTCTCAAACACCCATTCACAGCGCAGCGCGC CAGCATCCAGAACTCAAGGCTCTCATTCATCCATTGTCAGCGCAGCGCGC CAGCATCCAGAACTCAAGGCTCTCAAACACCCATTCACAGCGCAGCGCGC CAGCATCCAGAACTCAAGGCTCTCATACACCCATTCACAGCGCAGCGCGC CAGCATCCAGAACTCACGTCTCTCATTCATCCACTGACAGCGCAGCGCGC CAGCATCCAGAACTCAAGGCTCTCATTCATCCATTGACAGCGCAGCGCGC CAGCATCCAGAACTCAAGGCTCTCAAACACCCATTCACAGCGCAGCGCGC CAGCATCCAGAACTCACGGCTCTCATTCATCCATTGACAGCGCAGCGCGC TAGCATCCAGAACTCACGTCTCTCATTCATCCACTGACAGCGCAGCGCGC CAGCATCCAGAACTCAAGGCTCTCAAACACCCATTCACAGCGCAGCGCGC CAGCATCCGGAACTCA	PDCD1	ENSG00000188389.11	transcript	ENST00000334409.10	protein_coding		1140		chr2	TogoVar
PIAS4_chr19_4002736_4044386	4011875	T T	TGGGGTGT others(493): Show TGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGT GGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGGTGTG TGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGT GGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTG TGGGGTGTGGAGGTGTGGGGTGTGGAGGTGTGGGGTGTGGAGGTGTGTGG GGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGGGGTGTGGAGGTGTGTTTG GTGTGGAGGTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGTGG GGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGAG GGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGT GGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTG A	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0219 a0001c0007t0001g0219	1	322	0.0031	500	c.28- others(515): Show c.28-1032_28-1031insTGGGGTGTGGAGGTGTGTGGGGTGTGGAGG TGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGGT GTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGG TGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGT GTGTGGGGTGTGGAGGTGTGGGGTGTGGAGGTGTGGGGTGTGGAGGTGTG TGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGGGGTGTGGAGGTGTGT TTGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTG TGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGT GAGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTG TGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGT GTGAGGGGTGTGGAGGTGTG	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
PIGQ_chr16_564968_589109	571084	T T	TGTGTGTG others(493): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCTGG CTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGG CTAGCCTGTGTGTGTGTGTGTCTGTCTGGCTAGCCTGGTGCCCGTGTGTG TGTGTATGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGC CTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGCTCCCG TGGCTAGCCTGGTGCCTGTGTGTGTGTGTGTGTATGTGTCTGGCTAGCCT GGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGGGGGGGGGGGCT AGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGT GTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCC C	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA19085.hp2 NA18983.hp2 NA19085.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0027 a0002c0001t0001g0238 a0002c0001t0001g0027 a0002c0001t0001g0238	2	386	0.0052	500	c.-10 others(517): Show c.-10+1012_-10+1013insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTA GCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTA GCCTGTGTGTGTGTGTGTCTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGT GTATGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTG GTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGCTCCCGTGG CTAGCCTGGTGCCTGTGTGTGTGTGTGTGTATGTGTCTGGCTAGCCTGGT GCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGGGGGGGGGGGCTAGC CTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTG TGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGT GTGTGTGTGTGTGTGTGTGTGT	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PIGQ_chr16_564968_589109	571108	T T	TGTGTGTG others(493): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGT GTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGT GTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGTCTGGCTAGCCTGGTGCC CGTGTGTGTGTGTATGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCG TGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCT GGCTCCCGTGGCTAGCCTGGTGCCTGTGTGTGTGTGTGTGTATGTGTCTG GCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGGGGG GGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGC TAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGC CTGGCGCCCGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACC C	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0226 a0002c0001t0001g0226	1	320	0.0031	500	c.-10 others(517): Show c.-10+1012_-10+1013insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGT CTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGT CTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGT GTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGT ATGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGGTGCCTGTGT GTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGT GCCCGTGTGTGTGTGTGGGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTG GCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCT GTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGT GTGTCTGGCTAGCCTGGCACCC	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10			chr16	TogoVar
PIMREG_chr17_6439455_6456469	6455724	G G	GGAGGGGA others(493): Show GGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGGGGGAGGGGAGG GGGAAGAGGGGAGGGGAGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGGG AGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAG GGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGG GGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGG AAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAA GAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGA GGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGG GGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGGGGGAAGAGGGGAAGGGGA GAGGAGGGGAGGGGAGAGGAGGGGAAGGGGGAAGAGGGGATGGGAGGGGA A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	29	0.0345	500	c.53 others(511): Show c.5377_*5378insGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGG AGGGGGGAGGGGAGGGGGAAGAGGGGAGGGGAGGGGAGGGGGAAGAGGGG AGGGGAGGAGATGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAG GGGAGGGGAGAGGAGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGG GAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGA AGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAG GGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGG AGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAG GGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGGGGG AAGAGGGGAAGGGGAGAGGAGGGGAGGGGAGAGGAGGGGAAGGGGGAAGA GGGGATGGGAGGGGAA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4256		chr17	TogoVar
PIP5K1C_chr19_3625183_3705468	3649213	A A	ATGCCCAC others(493): Show ATGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC G	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0006 a0002c0004t0006	a0002c0004t0006g0223 a0002c0004t0006g0223	1	234	0.0043	500	c.112 others(517): Show c.1128-506_1128-505insCGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCA	PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding	8/17			chr19	TogoVar
PPFIA2_chr12_81252975_81764350	81642703	T T	TGTATATA others(493): Show TGTATATATTATATACATACACGTATGTATATATTATATACATACACGTA TGTATATATTATATACATACACGTATGTATATATTATATACATACACGTA TGTATATATTATATACATACACGTATGTATATATTATATACATACACGTA TGTATATATTATATACATACACGTATGTATATATTATATACATACACGTA TGTATATATTATATACATACACGTATGTATATATTATATACATACACGTA TGTATATATTATATACATACACGTATGTATATATTATATACATACACGTA TGTATATATTATATACATACACGTATGTATATATTATATACATACACGTA TGTATATATTATATACATACACGTATGTATATATTATATACATACACGTA TGTATATATTATATACATACACGTATGTATATATTATATACATACACGTG TATGTATATATTATATACATACACGTGTATGTATATATTATATACATACA C	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0091 a0001c0001t0002g0091	1	77	0.0130	500	c.303 others(519): Show c.303+34087_303+34088insGTGTATGTATATAATATATACATACA CGTGTATGTATATAATATATACATACACGTGTATGTATATAATATATACA TACGTGTATGTATATAATATATACATACGTGTATGTATATAATATATACA TACGTGTATGTATATAATATATACATACGTGTATGTATATAATATATACA TACGTGTATGTATATAATATATACATACGTGTATGTATATAATATATACA TACGTGTATGTATATAATATATACATACGTGTATGTATATAATATATACA TACGTGTATGTATATAATATATACATACGTGTATGTATATAATATATACA TACGTGTATGTATATAATATATACATACGTGTATGTATATAATATATACA TACGTGTATGTATATAATATATACATACGTGTATGTATATAATATATACA TACGTGTATGTATATAATATATACATACGTGTATGTATATAATATATACA TACGTGTATGTATATAATATATAC	PPFIA2	ENSG00000139220.17	transcript	ENST00000549396.6	protein_coding	4/32			chr12	TogoVar
PPP1R14C_chr6_150138044_150255392	150167973	T T	TCCTTCTC others(493): Show TCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCT TCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTC TCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCT CCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTCCTCC CCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCT TTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCT CCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTT CTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCC TCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCC TTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTC C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	67	0.0149	500	c.306 others(519): Show c.306+24490_306+24491insCTTTCTCCCCTTCTCTCCTCCCCCTT TCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTC CCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCT TCTCTCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTC TCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTC CTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCC CCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTT CTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCC TTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCT CCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCC CCTTTCTCCCCTTCTCTCCTCCCC	PPP1R14C	ENSG00000198729.5	transcript	ENST00000361131.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
PRKCZ_chr1_2045411_2190395	2124289	A A	AGGGTCAA others(493): Show AGGGTCAAGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGT AGTTAGGGTCACGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGG TGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGGGTCACGG CTATAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTC ATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAG GGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAG TTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTG GTAGTTAGGGTCACAGCGATAGTTAGCATCATGGTGGTAGTTAGGGTCAT GGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGG TCATGGCTGTAGTTAGGGTCATGGTGGTAGTTGGGGTCACGGCTATAGTT G	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0166 a0001c0002t0001g0166	1	169	0.0059	500	c.335 others(519): Show c.335-10972_335-10971insGGTCAAGGTGGTAGTTAGGATCATGG CTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGTGGTAGTTAGGATC ATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAG GGTCATGGTGGTAGGGTCACGGCTATAGTTAGGGTCATGGTGGTAGTTAG GATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAG TTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTG GTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCAC GGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACAGCGATAGTTAGCA TCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTT AGGGTCATGGTGGTAGTTAGGGTCATGGCTGTAGTTAGGGTCATGGTGGT AGTTGGGGTCACGGCTATAGTTGG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRR12_chr19_49586182_49631439	49623832	C C	CTGGTTAG others(493): Show CTGGTTAGGATGGGGCTGGGAATTCTGGGGTAGGTGGTTAGGATGGGGCT GGGAATTCTGGGGTGGGTGGTTAGGATGGGGCCAGGAATTCTGGGGTAGG TGGTTAGGATGAGACCGAGAATTCTGGGGTAGGTGGTTAGGATGGGACTG AGAATTCTGAGGTAGGTGGTTAGGATGGGGCCAAGAATTCTGGGGTAGGT GGTTAGGATGGGACCGAGAATTCTGGGGTAGGTGGTTAGGATGGGACCGA GAATTCTGGGGTAGGTGGTTACGATGGGGCTGAGAATTCTGGGATAGGAT AGGTGGTTAGGATGAGACTGAGAATTCTGGGGTAGGTGGTTAGGATGGGG CCGAGCATTCAGGGATAGGTGGTTAGGATGGGGCTGAGAATTCTGGGGTA GGTGGTTAGGATGGGGCTGAGAATTCTGGGGTAGGTGGTTAGGATGGTGC TGAGAATTCTGGGATAGGTGGTTAGGATGGGGCTGAGAATTCTGGGGTAG G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0007 a0007	a0007c0025 a0007c0025	a0007c0025t0001 a0007c0025t0001	a0007c0025t0001g0020 a0007c0025t0001g0020	1	320	0.0031	500	c.572 others(517): Show c.5722-951_5722-950insGTGGGTGGTTAGGATGGGGCCAGGAATT CTGGGGTAGGTGGTTAGGATGAGACCGAGAATTCTGGGGTAGGTGGTTAG GATGGGACTGAGAATTCTGAGGTAGGTGGTTAGGATGGGGCCAAGAATTC TGGGGTAGGTGGTTAGGATGGGACCGAGAATTCTGGGGTAGGTGGTTAGG ATGGGACCGAGAATTCTGGGGTAGGTGGTTACGATGGGGCTGAGAATTCT GGGATAGGATAGGTGGTTAGGATGAGACTGAGAATTCTGGGGTAGGTGGT TAGGATGGGGCCGAGCATTCAGGGATAGGTGGTTAGGATGGGGCTGAGAA TTCTGGGGTAGGTGGTTAGGATGGGGCTGAGAATTCTGGGGTAGGTGGTT AGGATGGTGCTGAGAATTCTGGGATAGGTGGTTAGGATGGGGCTGAGAAT TCTGGGGTAGGTGGTTAGGATGGGGCTGGGAATTCTGGGGTAGGTGGTTA GGATGGGGCTGGGAATTCTGGG	PRR12	ENSG00000126464.15	transcript	ENST00000418929.7	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
RAB11FIP3_chr16_420649_528011	504394	C C	CCCCCCTT others(493): Show CCCCCCTTGCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCCTCACCTC CTGTACCCCCTCACCTCCTCCTGTACCCCCCTTGCCTCCTGTACCCCCTC ACCTCCTTGTGCACCCCCTCACCTCCTGTACCCCCTCACCTCCTCTTGCA CCCCCCTTGCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCCTCACCTC CTGTACCCCCCTCACCTCCTCCTGTACCCGCCTCACCTCCTCCTGCACTC CCATCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCTCACCTCCTGT ACCCCCTCACCTCCTCCTGTACCCCCCTCACCTCCTCCTGTACCCCCCTC ACCTCCTCCTGTACCCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCC TGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCTC ACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTCACCTCCTCCTGT A	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0020 a0001c0001t0030g0020	1	281	0.0036	500	c.139 others(519): Show c.1396-1124_1396-1123insTGCCTCCTGTACCCCCTCACCTCCTT GTGCACCCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTT GCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTGTACCC CCTCACCTCCTCTTGCACCCCCCTTGCCTCCTGTACCCCCTCACCTCCTT GTGCACCCCCTCACCTCCTGTACCCCCCTCACCTCCTCCTGTACCCGCCT CACCTCCTCCTGCACTCCCATCTCCTCCTGTACCCCCTCACCTCCTTGTG CACCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTCACCT CCTCCTGTACCCCCCTCACCTCCTCCTGTACCCCCCTCACCTCCTCCTGT ACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCAC CTCCTTGTGCACCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCC CCCTCACCTCCTCCTGTACCCCCT	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	504502	T T	TTCCTGTA others(493): Show TTCCTGTACCCGCCTCACCTCCTCCTGCACTCCCATCTCCTCCTGTACCC CCTCACCTCCTTGTGCACCCCTCACCTCCTGTACCCCCTCACCTCCTCCT GTACCCCCCTCACCTCTTCCTGTACCACCTCCTCCTGTACCCCCTCACCT CCTCTTGCACCCCCCTTGCCTCCTGTACCCCCTCACCTCCTTGTGCACCC CCTCACCTCCTGTACCCCCCTCACCTCCTCCTGTACCCGCCTCACCTCCT CCTGCACTCCCATCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCCT CACCTCCTCCTATACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTTG TGCACCCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCAC CTCCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTTGTGC AACCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTCACCTC C	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0190 a0001c0002t0002g0190	1	10	0.1000	500	c.139 others(519): Show c.1396-1012_1396-1011insGCCTCACCTCCTCCTGCACTCCCATC TCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCTCACCTCCTGTACCCC CTCACCTCCTCCTGTACCCCCCTCACCTCTTCCTGTACCACCTCCTCCTG TACCCCCTCACCTCCTCTTGCACCCCCCTTGCCTCCTGTACCCCCTCACC TCCTTGTGCACCCCCTCACCTCCTGTACCCCCCTCACCTCCTCCTGTACC CGCCTCACCTCCTCCTGCACTCCCATCTCCTCCTGTACCCCCTCACCTCC TTGTGCACCCCCTCACCTCCTCCTATACCCCCTCACCTCCTCCTGTACCC CCTCACCTCCTTGTGCACCCCCTCACCTCCTGTACCCCCTCACCTCCTCC TGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCT CACCTCCTTGTGCAACCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTA CCCCCCTCACCTCCTCCTGTACCC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAP1GAP2_chr17_2791438_3042741	2831059	C C	CTCCCCCT others(493): Show CTCCCCCTCCCCTTCCCCTCCCTTTCCCTCCCCCTCCTTCCCCTCCCCCT TCCCTCCCTTCCCCTCCCCTCCCTTCCCCTCCCCTCCTCTCCCCTCCCTC CCCTCCCCTTCCTTCCCCTCTCCTTCCTTCCCCTCCCCTCCCCTTCCCTC CCTTTCCCCTCCCCTCCCTTCCCCTCCCCTCCCCTTCCCTCCCTTCCCCT CCCCTCCTCTCCCCTCCCTCCCCTCCCCTTTTCTCCCTTCCCCTCCCATC CCCTACACTTCCCTCCCCTCCCCTTCCCTACACTTCCGTCCCCTCCCCTT CCCTACACTTCCCTTCCCTCCCCTCCCCCTCCCTTTCCCTCCTCTTCCCT CCCCTCCCGTTCCCATCCCCTTCCCTCCCTTCCCCTCCCCCCACCCTCCC TTCCCCTCCCTTCTTCTCTCCCCCTCCCCTCCCCTTCCCTCCCCTTCCCC TCCCCTCCCCTCCCCCTCCCTTTCCCTCCCCTCCCCTCCCCTCCCTTCCC A	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0015 a0001c0004t0015	a0001c0004t0015g0005 a0001c0004t0015g0005	1	10	0.1000	500	c.80+ others(517): Show c.80+30514_80+30515insCTCCCCTTCCCCTCCCTTTCCCTCCCCC TCCTTCCCCTCCCCCTTCCCTCCCTTCCCCTCCCCTCCCTTCCCCTCCCC TCCTCTCCCCTCCCTCCCCTCCCCTTCCTTCCCCTCTCCTTCCTTCCCCT CCCCTCCCCTTCCCTCCCTTTCCCCTCCCCTCCCTTCCCCTCCCCTCCCC TTCCCTCCCTTCCCCTCCCCTCCTCTCCCCTCCCTCCCCTCCCCTTTTCT CCCTTCCCCTCCCATCCCCTACACTTCCCTCCCCTCCCCTTCCCTACACT TCCGTCCCCTCCCCTTCCCTACACTTCCCTTCCCTCCCCTCCCCCTCCCT TTCCCTCCTCTTCCCTCCCCTCCCGTTCCCATCCCCTTCCCTCCCTTCCC CTCCCCCCACCCTCCCTTCCCCTCCCTTCTTCTCTCCCCCTCCCCTCCCC TTCCCTCCCCTTCCCCTCCCCTCCCCTCCCCCTCCCTTTCCCTCCCCTCC CCTCCCCTCCCTTCCCATCCCC	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
RFC1_chr4_39282456_39371362	39348424	A A	AAAAAGAA others(493): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	81	0.0123	500	c.132 others(517): Show c.132+2923_132+2924insCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTT	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	2/24			chr4	TogoVar
RGPD4_chr2_107821892_107897544	107828512	G G	GGCGGCGG others(493): Show GGCGGCGGCCTCGATGGCTCAGGCGTCATGGCTCCCGACGGGCGCTGCTC CCTGGCGCGCTCTGTTGAGGCGGCGGCCTCGACCCGGCCCGGCGGCGGCC TCGATGGCTCAGGCGTCATGGCTCCCGACGGGCGCTGCTCCCTGGCGCGC TCTGTTGAGGCAGCGGCCTCGACCTGGCCGGGCGGCGGCGGCCTCGACCT GGCCCGGCGGCGGCCTCGATGGCTCAGGCATCATGGCTCCCGACGGGCGC TGCTCCCTGGCGCGCTCTGTTGAGGCAGCGGCCTCGACCTGGCCGGGCGG CGGCGGCCTCGACCTGGCCCGGCGGCTGCCTCGATGGCTCAGGCATCATG GCTCCTGACGGGCGCTGCTCCCTGGCGCGCTCTGTTGAGGCGGCGGCCTC GACCCGGCCCGGCGGCGGCCTCGATGGCTCAGGCGTCATGGCTCCCGACC GGCGCTGCTCCCTGGCGTGCTCTGTTGAGGCGGCGGCCTCGACCCGGCCC C	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA18986.hp1 NA18990.hp2 HG00558.hp2 NA18986.hp1 NA18990.hp2	a0001 a0023 a0001 a0023	a0001c0001 a0023c0019 a0001c0001 a0023c0019	a0001c0001t0001 a0023c0019t0001 a0001c0001t0001 a0023c0019t0001	a0001c0001t0001g0305 a0023c0019t0001g0295 a0023c0019t0001g0338 a0001c0001t0001g0305 a0023c0019t0001g0295 a0023c0019t0001g0338	3	359	0.0084	500	c.72+ others(515): Show c.72+1497_72+1498insGGCGGCCTCGACCCGGCCCGGCGGCGGCCT CGATGGCTCAGGCGTCATGGCTCCCGACGGGCGCTGCTCCCTGGCGCGCT CTGTTGAGGCAGCGGCCTCGACCTGGCCGGGCGGCGGCGGCCTCGACCTG GCCCGGCGGCGGCCTCGATGGCTCAGGCATCATGGCTCCCGACGGGCGCT GCTCCCTGGCGCGCTCTGTTGAGGCAGCGGCCTCGACCTGGCCGGGCGGC GGCGGCCTCGACCTGGCCCGGCGGCTGCCTCGATGGCTCAGGCATCATGG CTCCTGACGGGCGCTGCTCCCTGGCGCGCTCTGTTGAGGCGGCGGCCTCG ACCCGGCCCGGCGGCGGCCTCGATGGCTCAGGCGTCATGGCTCCCGACCG GCGCTGCTCCCTGGCGTGCTCTGTTGAGGCGGCGGCCTCGACCCGGCCCC GCGGCGGCCTCGATGGCTCAGGCGTCATGGCTCCCGACGGGCGCTGCTCC CTGGCGCGCTCTGTTGAGGC	RGPD4	ENSG00000196862.10	transcript	ENST00000408999.4	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
RGS12_chr4_3288021_3444913	3341470	C C	CGGGGGGA others(493): Show CGGGGGGAGGGAGGGTGGAGAGATGGTGTGGGCGGAGGGGAGGGTGGAGA GATGGGGGTATGTGGGGAGGGAACAAGGGTGTAGAGTTGGGGGTGCGGGG GGAGGGAGGGTGGAGAGATGGGGGTGTGGGCGGAGGGGAGGGTGGAGAGA TGGGGGTGTGGGGAGGGGACAAGGGTGGAGAGATGGTGTGGGGGGAGGGA GGGTGGAGAGATGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGTTGGGGGT GTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGCGGAGGGGAGGGTG GAGAGATGGGGGTGTGGGGAGGGGACAAGGGTGGAGAGATGGTGTGGGGG GAGGGAGGGTGGAGAGATGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGTT GGGGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGCGGAGGGG AGGGTGGAGAGATGGGGGTGTGGGGAGGGGACAAGGGTGGAGAGATGGTG T	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0167 a0001c0006t0001g0167	1	304	0.0033	500	c.188 others(519): Show c.1882-1442_1882-1441insTGTGGGCGGAGGGGAGGGTGGAGAGA TGGGGGTATGTGGGGAGGGAACAAGGGTGTAGAGTTGGGGGTGCGGGGGG AGGGAGGGTGGAGAGATGGGGGTGTGGGCGGAGGGGAGGGTGGAGAGATG GGGGTGTGGGGAGGGGACAAGGGTGGAGAGATGGTGTGGGGGGAGGGAGG GTGGAGAGATGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGTTGGGGGTGT GGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGCGGAGGGGAGGGTGGA GAGATGGGGGTGTGGGGAGGGGACAAGGGTGGAGAGATGGTGTGGGGGGA GGGAGGGTGGAGAGATGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGTTGG GGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGCGGAGGGGAG GGTGGAGAGATGGGGGTGTGGGGAGGGGACAAGGGTGGAGAGATGGTGTG GGGGGAGGGAGGGTGGAGAGATGG	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RNF213_chr17_80255852_80403794	80281590	G G	GCCAACAC others(493): Show GCCAACACACACACCCCACTCACCCCACTCACACCCAACACACACACACA CCCCACTCACCCCCAACACACACACACCACTCACACCACTCACACACCCC CAACATACATATCCCACTCACCCCACTCACACACACCCAACACACACACA CACCCCACTCACCCCCAACACATACAAATCCCACTCACACCACTCACACA CACATACCCCACTCACACACACCCCAACACACACACCCCACTCACACACA TACCCCAACACACACACATATCCCACTCACACCACTCACCCCCAACATAC ACCCCACTCACCCCACTCACACACACCCAACACACACACACACCCCACTC ACCCCAACACACACACATCCGACTCACACCACTCACACACCCCAACACAC ATACCCCACTCACACACACACCCCAACACACACACACCCCTCTCATCCCA CTCACACATACCCAACACACACACAGCCCACTCACACGACTCACACACCC C	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0093 a0093	a0093c0098 a0093c0098	a0093c0098t0001 a0093c0098t0001	a0093c0098t0001g0285 a0093c0098t0001g0285	1	172	0.0058	500	c.262 others(517): Show c.262-6213_262-6212insCCCCACTCACCCCACTCACACCCAACAC ACACACACACCCCACTCACCCCCAACACACACACACCACTCACACCACTC ACACACCCCCAACATACATATCCCACTCACCCCACTCACACACACCCAAC ACACACACACACCCCACTCACCCCCAACACATACAAATCCCACTCACACC ACTCACACACACATACCCCACTCACACACACCCCAACACACACACCCCAC TCACACACATACCCCAACACACACACATATCCCACTCACACCACTCACCC CCAACATACACCCCACTCACCCCACTCACACACACCCAACACACACACAC ACCCCACTCACCCCAACACACACACATCCGACTCACACCACTCACACACC CCAACACACATACCCCACTCACACACACACCCCAACACACACACACCCCT CTCATCCCACTCACACATACCCAACACACACACAGCCCACTCACACGACT CACACACCCCCCAACACACACA	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	3/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPH3AL_chr17_207389_357807	235251	A A	AGGGTTCA others(493): Show AGGGTTCAAAGCTGGGGTCGGGGGAGGCTCTGCACTAACAAGACGGATCC CGGGTTCAAAGCTGGGGTCGGGGGAGGCTCTGCACTAACAAGACGGATCC CGGGTTCAAAGCTGGGGTCGGGGGAGGCTCTACACTAACAAGACGGGTCC CGGGTTCAAAGCTGGGGTCGGCCGAGGCTCTACACTAACAAGACAGGTCC CGGGTTCAAAGCTGGGGTCGGCCGAGGCTCTGCACTAACAAGACGGATCC AGGGTTCAAAGCTGGGGTCGGCCGAGGCTCTACACTAACAAGACGGGTCC CGGGTTCAAAGCTGGGGTCGGCGGAGGCTCTGCAGTAACAAGACGGGTCC CGGGTTCAAAGCTGGGGTCGGCGGAGGCTCCACACTAACAAGACAGGTCC CGGGTTCAAAGCTGGGGTCGGCGGAGGCTCCACACTAACAAGATGGATCC AGGGTTCAAAGCTGGGGTCGGCGGAGGCTCCACACTAACAAGACAGGTCC C	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0015 a0001c0001t0010g0015	1	113	0.0088	500	c.613 others(519): Show c.613+11859_613+11860insGGGACCTGTCTTGTTAGTGTGGAGCC TCCGCCGACCCCAGCTTTGAACCCTGGATCCATCTTGTTAGTGTGGAGCC TCCGCCGACCCCAGCTTTGAACCCGGGACCTGTCTTGTTAGTGTGGAGCC TCCGCCGACCCCAGCTTTGAACCCGGGACCCGTCTTGTTACTGCAGAGCC TCCGCCGACCCCAGCTTTGAACCCGGGACCCGTCTTGTTAGTGTAGAGCC TCGGCCGACCCCAGCTTTGAACCCTGGATCCGTCTTGTTAGTGCAGAGCC TCGGCCGACCCCAGCTTTGAACCCGGGACCTGTCTTGTTAGTGTAGAGCC TCGGCCGACCCCAGCTTTGAACCCGGGACCCGTCTTGTTAGTGTAGAGCC TCCCCCGACCCCAGCTTTGAACCCGGGATCCGTCTTGTTAGTGCAGAGCC TCCCCCGACCCCAGCTTTGAACCCGGGATCCGTCTTGTTAGTGCAGAGCC TCCCCCGACCCCAGCTTTGAACCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	304998	A A	AGGGGGAC others(493): Show AGGGGGACAGGGCGAGAGGGGACAGGGCGAGAGGGGGACAGGGCGGGAGG GGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGG GACAGGGCGAGAGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGGACA GGGCGGGAGGGGGACAGGGCGAGAGGGGACAGGGCGAGAGGGGACAGGGC GGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGGACAGGGCGA GAGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAG GGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGG GACAGGGCGGGAGGGGGACAGGGCGAGAGGGGGACAGGGCGAGAGGGGAC AGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGGGGGGACGGG GGGGGGGACAGGGCGAGAGGGGGGACAGGGCGAGAGGGGACAGGGCGGGA G	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0092 a0001c0001t0004g0092	1	39	0.0256	500	c.351 others(519): Show c.351+14421_351+14422insCTCCCGCCCTGTCCCCTCTCGCCCTG TCCCCCCTCTCGCCCTGTCCCCCCCCCCGTCCCCCCCCGCCCTGTCCCCC TCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCT CGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCTCTCGC CCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCC TGTCCCCCTCCCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCTCGCCCTGT CCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCTCTCGCCCTGTCCC CTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCTC TCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCG CCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCTCGCC CTGTCCCCTCTCGCCCTGTCCCCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPS6KA2_chr6_166404364_166632251	166416131	C C	CCCACCAT others(493): Show CCCACCATCACCCTCACCATCATCTTCACCACCACCTCCACCATCACCCT CGCCATCCTTTCTCCATCACCTCCACCATCACCCTCACCATCATCTTCAC CACCACCTCCACCATCACCCTCGCCATCCTTTCTCCATCACCTCCACCAT CACCCTCGCCATCATCTTCAACACCACCTCCACCATCATCCTCACCATCT CCACCATCACCCTCGCCATCCTTTCTCCATCACCTCCACCATCACCCTCG CCATCATCTTCACCACCACCTCCACCATCATCCTCACCATCTCCACCATC ACCCTCACCATCCTTCCTCCATCACCTCCACCATCCACCCTCACCATCCT TCATCACCCCCACCATCACCCTCACCATCATCTTCACCACCACCTCCACC ATCACCCTCGCCATCCTTTCTCCACCACCTCCACCATCACCCTCGCCATC ATCTTCACCACCACCTCCACCATCACCCTCGCCATCCTTTCTCCATCACT T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02886.hp2 HG02970.hp1 others(2): Show HG02109.hp1 HG02886.hp2 HG02970.hp1 HG03195.hp1 HG03225.hp1	a0001 a0001	a0001c0007 a0001c0008 a0001c0018 others(1): Show a0001c0007 a0001c0008 a0001c0018 a0001c0037	a0001c0007t0006 a0001c0008t0006 a0001c0018t0006 others(1): Show a0001c0007t0006 a0001c0008t0006 a0001c0018t0006 a0001c0037t0006	a0001c0007t0006g0237 a0001c0008t0006g0217 a0001c0018t0006g0044 others(2): Show a0001c0007t0006g0237 a0001c0008t0006g0217 a0001c0018t0006g0044 a0001c0018t0006g0052 a0001c0037t0006g0048	5	8	0.6250	500	c.193 others(519): Show c.1938+2093_1938+2094insAAGTGATGGAGAAAGGATGGCGAGGG TGATGGTGGAGGTGGTGGTGAAGATGATGGCGAGGGTGATGGTGGAGGTG GTGGAGAAAGGATGGCGAGGGTGATGGTGGAGGTGGTGGTGAAGATGATG GTGAGGGTGATGGTGGGGGTGATGAAGGATGGTGAGGGTGGATGGTGGAG GTGATGGAGGAAGGATGGTGAGGGTGATGGTGGAGATGGTGAGGATGATG GTGGAGGTGGTGGTGAAGATGATGGCGAGGGTGATGGTGGAGGTGATGGA GAAAGGATGGCGAGGGTGATGGTGGAGATGGTGAGGATGATGGTGGAGGT GGTGTTGAAGATGATGGCGAGGGTGATGGTGGAGGTGATGGAGAAAGGAT GGCGAGGGTGATGGTGGAGGTGGTGGTGAAGATGATGGTGAGGGTGATGG TGGAGGTGATGGAGAAAGGATGGCGAGGGTGATGGTGGAGGTGGTGGTGA AGATGATGGTGAGGGTGATGGTGG	RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	19/20			chr6	TogoVar
RPS6KA2_chr6_166404364_166632251	166416131	C C	CCCACCAT others(493): Show CCCACCATCACCCTCACCATCATCTTCACCACCACCTCCACCATCACCCT CGCCATCCTTTCTCCATCACCTCCACCATCACCCTCACCATCATCTTCAC CACCACCTCCACCATCACCCTCGCCATCCTTTCTCCATCACCTCCACCAT CACCCTCGCCATCATCTTCACCACCACCTCCACCATCATCCTCACCATCT CCACCATCACCCTCGCCATCCTTTCTCCATCACCTCCACCATCACCCTCG CCATCATCTTCACCACCACCTCCACCATCATCCTCACCATCTCCACCATC ACCCTCACCATCCTTCCTCCATCACCTACACCATCCACCCTCACCATCCT TCATCACCCCCACCATCACCCTCACCATCATCTTCACCACCACCTCCACC ATCACCCTCGCCATCCTTTCTCCATCACCTCCACCATCACCCTCGCCATC ATCTTCACCACCACCTCCACCATCACCCTCGCCATCCTTTCTCCATCACT T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02451.hp1 HG03209.hp2 HG02280.hp2 HG02451.hp1 HG03209.hp2	a0001 a0001	a0001c0015 a0001c0022 a0001c0030 a0001c0015 a0001c0022 a0001c0030	a0001c0015t0017 a0001c0022t0017 a0001c0030t0017 a0001c0015t0017 a0001c0022t0017 a0001c0030t0017	a0001c0015t0017g0020 a0001c0022t0017g0195 a0001c0030t0017g0053 a0001c0015t0017g0020 a0001c0022t0017g0195 a0001c0030t0017g0053	3	6	0.5000	500	c.193 others(519): Show c.1938+2093_1938+2094insAAGTGATGGAGAAAGGATGGCGAGGG TGATGGTGGAGGTGGTGGTGAAGATGATGGCGAGGGTGATGGTGGAGGTG ATGGAGAAAGGATGGCGAGGGTGATGGTGGAGGTGGTGGTGAAGATGATG GTGAGGGTGATGGTGGGGGTGATGAAGGATGGTGAGGGTGGATGGTGTAG GTGATGGAGGAAGGATGGTGAGGGTGATGGTGGAGATGGTGAGGATGATG GTGGAGGTGGTGGTGAAGATGATGGCGAGGGTGATGGTGGAGGTGATGGA GAAAGGATGGCGAGGGTGATGGTGGAGATGGTGAGGATGATGGTGGAGGT GGTGGTGAAGATGATGGCGAGGGTGATGGTGGAGGTGATGGAGAAAGGAT GGCGAGGGTGATGGTGGAGGTGGTGGTGAAGATGATGGTGAGGGTGATGG TGGAGGTGATGGAGAAAGGATGGCGAGGGTGATGGTGGAGGTGGTGGTGA AGATGATGGTGAGGGTGATGGTGG	RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	19/20			chr6	TogoVar
RPS6KA2_chr6_166404364_166632251	166416131	C C	CCCACCAT others(493): Show CCCACCATCACCCTCACCATCATCTTCACCACCACCTCCACCATCACCCT CGCCATCCTTTCTCCATCACCTCCACCATCACCCTCACCATCATCTTCAC CACCACCTCCACCATCACCCTCGCCATCCTTTCTCCATCACCTCCACCAT CACCCTCGCCATCATCTTCACCACCACCTCCACCATCATCCTCACCATCT CCACCATCACCCTCGCCATCCTTTCTCCATCACCTCCACCATCACCCTCG CCATCATCTTCACCACCACCTCCACCATCATCCTCACCATCTCCACCATC ACCCTCACCATCCTTCCTCCATCACCTCCACCATCCACCCTCACCATCCT TCATCACCCCCACCATCACCCTCACCATCATCTTCACCACCACCTCCACC ATCACCCTCGCCATCCTTTCTCCATCACCTCCACCATCACCCTCGCCATC ATCTTCACCACCACCTCCACCATCACCCTCGCCATCCTTTCTCCATCACT T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01891.hp1 HG01891.hp2 others(20): Show HG01243.hp1 HG01891.hp1 HG01891.hp2 HG02486.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02717.hp1 HG02723.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02976.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03453.hp1 HG03486.hp2 HG03540.hp2 NA18522.hp1 NA19240.hp1 NA20129.hp1	a0001 a0001	a0001c0004 a0001c0006 a0001c0010 others(10): Show a0001c0004 a0001c0006 a0001c0010 a0001c0013 a0001c0015 a0001c0017 a0001c0022 a0001c0032 a0001c0046 a0001c0049 a0001c0050 a0001c0062 a0001c0064	a0001c0004t0020 a0001c0006t0004 a0001c0006t0005 others(13): Show a0001c0004t0020 a0001c0006t0004 a0001c0006t0005 a0001c0010t0005 a0001c0010t0010 a0001c0013t0010 a0001c0015t0004 a0001c0015t0010 a0001c0017t0005 a0001c0022t0004 a0001c0032t0004 a0001c0046t0004 a0001c0049t0022 a0001c0050t0005 a0001c0062t0040 a0001c0064t0005	a0001c0004t0020g0200 a0001c0004t0020g0201 a0001c0006t0004g0159 others(20): Show a0001c0004t0020g0200 a0001c0004t0020g0201 a0001c0006t0004g0159 a0001c0006t0004g0212 a0001c0006t0005g0204 a0001c0006t0005g0208 a0001c0006t0005g0219 a0001c0010t0005g0199 a0001c0010t0010g0233 a0001c0013t0010g0123 a0001c0015t0004g0049 a0001c0015t0010g0041 a0001c0017t0005g0078 a0001c0017t0005g0117 a0001c0017t0005g0214 a0001c0022t0004g0072 a0001c0022t0004g0210 a0001c0032t0004g0039 a0001c0046t0004g0228 a0001c0049t0022g0001 a0001c0050t0005g0083 a0001c0062t0040g0198 a0001c0064t0005g0194	23	26	0.8846	500	c.193 others(519): Show c.1938+2093_1938+2094insAAGTGATGGAGAAAGGATGGCGAGGG TGATGGTGGAGGTGGTGGTGAAGATGATGGCGAGGGTGATGGTGGAGGTG ATGGAGAAAGGATGGCGAGGGTGATGGTGGAGGTGGTGGTGAAGATGATG GTGAGGGTGATGGTGGGGGTGATGAAGGATGGTGAGGGTGGATGGTGGAG GTGATGGAGGAAGGATGGTGAGGGTGATGGTGGAGATGGTGAGGATGATG GTGGAGGTGGTGGTGAAGATGATGGCGAGGGTGATGGTGGAGGTGATGGA GAAAGGATGGCGAGGGTGATGGTGGAGATGGTGAGGATGATGGTGGAGGT GGTGGTGAAGATGATGGCGAGGGTGATGGTGGAGGTGATGGAGAAAGGAT GGCGAGGGTGATGGTGGAGGTGGTGGTGAAGATGATGGTGAGGGTGATGG TGGAGGTGATGGAGAAAGGATGGCGAGGGTGATGGTGGAGGTGGTGGTGA AGATGATGGTGAGGGTGATGGTGG	RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	19/20			chr6	TogoVar
RPS6KA2_chr6_166404364_166632251	166416131	C C	CCCACCAT others(493): Show CCCACCATCACCCTCACCATCATCTTCACCACCACCTCCACCATCACCCT CGCCATCCTTTCTCCATCACCTCCACCATCACCCTCACCATCATCTTCAC CACCACCTCCACCATCACCCTCGCCGTCCTTTCTCCATCACCTCCACCAT CACCCTCGCCATCATCTTCACCACCACCTCCACCATCATCCTCACCATCT CCACCATCACCCTCGCCATCCTTTCTCCATCACCTCCACCATCACCCTCG CCATCATCTTCACCACCACCTCCACCATCATCCTCACCATCTCCACCATC ACCCTCACCATCCTTCCTCCATCACCTCCACCATCCACCCTCACCATCCT TCATCACCCCCACCATCACCCTCACCATCATCTTCACCACCACCTCCACC ATCACCCTCGCCATCCTTTCTCCATCACCTCCACCATCACCCTCGCCATC ATCTTCACCACCACCTCCACCATCACCCTCGCCATCCTTTCTCCATCACT T	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0004 a0001c0010t0004	a0001c0010t0004g0065 a0001c0010t0004g0065	1	4	0.2500	500	c.193 others(519): Show c.1938+2093_1938+2094insAAGTGATGGAGAAAGGATGGCGAGGG TGATGGTGGAGGTGGTGGTGAAGATGATGGCGAGGGTGATGGTGGAGGTG ATGGAGAAAGGATGGCGAGGGTGATGGTGGAGGTGGTGGTGAAGATGATG GTGAGGGTGATGGTGGGGGTGATGAAGGATGGTGAGGGTGGATGGTGGAG GTGATGGAGGAAGGATGGTGAGGGTGATGGTGGAGATGGTGAGGATGATG GTGGAGGTGGTGGTGAAGATGATGGCGAGGGTGATGGTGGAGGTGATGGA GAAAGGATGGCGAGGGTGATGGTGGAGATGGTGAGGATGATGGTGGAGGT GGTGGTGAAGATGATGGCGAGGGTGATGGTGGAGGTGATGGAGAAAGGAC GGCGAGGGTGATGGTGGAGGTGGTGGTGAAGATGATGGTGAGGGTGATGG TGGAGGTGATGGAGAAAGGATGGCGAGGGTGATGGTGGAGGTGGTGGTGA AGATGATGGTGAGGGTGATGGTGG	RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	19/20			chr6	TogoVar
SCNN1D_chr1_1275436_1297025	1288347	C C	CCGTGTCT others(493): Show CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCCCCGTCCTGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCG TCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCG T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0001 a0007c0006t0001	a0007c0006t0001g0103 a0007c0006t0001g0103	1	251	0.0040	500	c.166 others(517): Show c.1662+311_1662+312insGTGTCTCTGCCCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCTGTGTCCCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCG TCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTC CGTCCCGTGTCCCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SESN1_chr6_108979309_109099846	109047041	T T	TGGGGGGT others(493): Show TGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGTGCCATCTGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGTGCCGTCCGGGAGGGAGGTG GGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGC GCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCAGCCTGGC CAGCCACCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCAACCCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCC AGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCA GCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTG GGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCGGTCCAGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03453.hp2 NA18906.hp1 others(1): Show HG01891.hp2 HG03453.hp2 NA18906.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0179 a0001c0001t0008g0050 a0001c0001t0008g0051 others(1): Show a0001c0001t0001g0179 a0001c0001t0008g0050 a0001c0001t0008g0051 a0001c0001t0008g0052	4	41	0.0976	500	c.280 others(519): Show c.280-44699_280-44698insCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACCGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTTGGGGGGCTGACCCCCCC ATCTCCCTCCCGGACGGGGTGGCTGGCCAGGCTGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGCTGACCCCCCACCTCCCTCCCGGACGGCACGGCT GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGATGGCACGGCTG GCCGGGCGGGGGGGCTGACCCCCC	SESN1	ENSG00000080546.14	transcript	ENST00000436639.7	protein_coding	1/9			chr6	TogoVar
SESN1_chr6_108979309_109099846	109047041	T T	TGGGGGGT others(493): Show TGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGTGCCATCTGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGTGCCGTCCGGGAGGGAGGTG GGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGC GCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCAGCCTGGC CAGCCACCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCCACCCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCC AGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCA GCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTG GGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCGGTCCAGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT G	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0135 a0001c0001t0003g0135	1	38	0.0263	500	c.280 others(519): Show c.280-44699_280-44698insCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACCGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCC ATCTCCCTCCCGGACGGGGTGGCTGGCCAGGCTGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGCTGACCCCCCACCTCCCTCCCGGACGGCACGGCT GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGATGGCACGGCTG GCCGGGCGGGGGGGCTGACCCCCC	SESN1	ENSG00000080546.14	transcript	ENST00000436639.7	protein_coding	1/9			chr6	TogoVar
SHANK1_chr19_50654255_50724802	50678976	G G	GTGGGGAG others(493): Show GTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTC AGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGAAG GGGTCAGGGTTACAAGCATTACAGGTAAGGGGTGAGGGTGATGGGGGGGT GTCAGTGTGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATG GGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAA GATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAG GGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGA TGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTC AGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGG AGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTG A	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03942.hp1 HG03710.hp1 HG03942.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0005 a0002c0001t0055 a0002c0001t0005 a0002c0001t0055	a0002c0001t0005g0110 a0002c0001t0055g0033 a0002c0001t0005g0110 a0002c0001t0055g0033	2	49	0.0408	500	c.257 others(519): Show c.2578-6863_2578-6862insTCACCCTGACCCCTCCCCACACCCTG ACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCAT CACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCC TCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCATCT TGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCC ATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACC CCTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCAC CCTGACCCCTCTCCATCACACTGACACCCCCCCATCACCCTCACCCCTTA CCTGTAATGCTTGTAACCCTGACCCCTTCCCATCACCCTGACCCCTCCCC ACACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCC TCCCCACACCCTGACCCCTCCCCA	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	21/23			chr19	TogoVar
SLC1A2_chr11_35246205_35424558	35403936	G G	GGCAAAGG others(493): Show GGCAAAGGAGGAAACAGCTCAAAGGCAAAGGGGGAAAGTCTTTTTTTTTT TTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTGGCCCAGGCTGG AGTACAGTGGTGCAATTTCAGCTCACTGCAACCTCCGCCTCCCGAGTTCA AGCGATTCTCTTGCCTCAGCCTCCCAAGTAGCCAGGACTACAGGTGCTCG CCACCATGCCCGGCTAATTTTTGTATTTTTGGTAGAGACGGGTTTCACTG TTGGCCAGGCGGGCCTGGAACTCCTGACCTCATGATCCGCCCACCTTGGC CTCCCAAAGTGCTGGGCTTACAGGCGTGAGCCATCGCGCCCGGCCGGGAA AGTTCCCTTTAAGCAAACATATGGACGCATGGATCAGTCCCTGCTCCGTG ATCACGGCCGCCTCAGCTGCACAGAATCCTGATATTCCTGCTCCCGGCAA ACAAGGGAACATCTTCCTCTTGCTGGCTTGCCTCAGCAGCTTAGCTCAAA A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0110 a0001c0001t0020g0110	1	137	0.0073	500	c.17+ others(517): Show c.17+15013_17+15014insTTTTGAGCTAAGCTGCTGAGGCAAGCCA GCAAGAGGAAGATGTTCCCTTGTTTGCCGGGAGCAGGAATATCAGGATTC TGTGCAGCTGAGGCGGCCGTGATCACGGAGCAGGGACTGATCCATGCGTC CATATGTTTGCTTAAAGGGAACTTTCCCGGCCGGGCGCGATGGCTCACGC CTGTAAGCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCATGAGGTCAG GAGTTCCAGGCCCGCCTGGCCAACAGTGAAACCCGTCTCTACCAAAAATA CAAAAATTAGCCGGGCATGGTGGCGAGCACCTGTAGTCCTGGCTACTTGG GAGGCTGAGGCAAGAGAATCGCTTGAACTCGGGAGGCGGAGGTTGCAGTG AGCTGAAATTGCACCACTGTACTCCAGCCTGGGCCACAGAGTGAGACTCT GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGACTTTCCCCCTTTGCC TTTGAGCTGTTTCCTCCTTTGC	SLC1A2	ENSG00000110436.13	transcript	ENST00000278379.9	protein_coding	1/10			chr11	TogoVar
SLC1A2_chr11_35246205_35424558	35403936	G G	GGCAAAGG others(493): Show GGCAAAGGAGGAAACAGCTCAAAGGCAAAGGGGGAAAGTCTTTTTTTTTT TTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTGGCCCAGGCTGG AGTACAGTGGTGCAATTTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCA AGCGATTCTCTTGCCTCAGCCTCCCAAGTAGCCAGGACTACAGGTGCTCG CCACCATGCCCGGCTAATTTTTGTATTTTTGGTAGAGACGGGTTTCACTG TTGGCCAGGCGGGCCTGGAACTCCTGACCTCATGATCCGCCCACCTTGGC CTCCCAAAGTGCTGGGCTTACAGGCGTGAGCCATCGCGCCCGGCCGGGAA AGTTCCCTTTAAGCAAACATATGGACGCATGGATCAGTCCCTGCTCCGTG ATCACGGCCGCCTCAGCTGCACAGAATCCTGATATTCCTGCTCCCGGCAA ACAAGGGAACATCTTCCTCTTGCTGGCTTGCCTCAGCAGCTTAGCTCAAA A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02257.hp2 HG02647.hp1 others(1): Show HG02145.hp1 HG02257.hp2 HG02647.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0009 a0001c0001t0010 a0001c0003t0058 others(1): Show a0001c0001t0009 a0001c0001t0010 a0001c0003t0058 a0001c0005t0077	a0001c0001t0009g0233 a0001c0001t0010g0236 a0001c0003t0058g0108 others(1): Show a0001c0001t0009g0233 a0001c0001t0010g0236 a0001c0003t0058g0108 a0001c0005t0077g0219	4	140	0.0286	500	c.17+ others(517): Show c.17+15013_17+15014insTTTTGAGCTAAGCTGCTGAGGCAAGCCA GCAAGAGGAAGATGTTCCCTTGTTTGCCGGGAGCAGGAATATCAGGATTC TGTGCAGCTGAGGCGGCCGTGATCACGGAGCAGGGACTGATCCATGCGTC CATATGTTTGCTTAAAGGGAACTTTCCCGGCCGGGCGCGATGGCTCACGC CTGTAAGCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCATGAGGTCAG GAGTTCCAGGCCCGCCTGGCCAACAGTGAAACCCGTCTCTACCAAAAATA CAAAAATTAGCCGGGCATGGTGGCGAGCACCTGTAGTCCTGGCTACTTGG GAGGCTGAGGCAAGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTG AGCTGAAATTGCACCACTGTACTCCAGCCTGGGCCACAGAGTGAGACTCT GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGACTTTCCCCCTTTGCC TTTGAGCTGTTTCCTCCTTTGC	SLC1A2	ENSG00000110436.13	transcript	ENST00000278379.9	protein_coding	1/10			chr11	TogoVar
SLC1A2_chr11_35246205_35424558	35403936	G G	GGCAAAGG others(493): Show GGCAAAGGAGGAAACAGCTCAAAGGCAAAGGGGGAAAGTCTTTTTTTTTT TTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTGGCCCAGGCTGG AGTACAGTGGTGCAATTTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCA AGCGATTCTCTTGCCTCAGCCTCCCAAGTAGCCAGGACTACAGGTGCTCG CCACCATGCCCGGCTAATTTTTGTATTTTTGGTAGAGACGGGTTTCACTG TTGGCCAGGCGGGCCTGGAACTCCTGACCTCATGATCTGCCCACCTTGGC CTCCCAAAGTGCTGGGCTTACAGGCGTGAGCCATCGCGCCCGGCCGGGAA AGTTCCCTTTAAGCAAACATATGGACGCATGGATCAGTCCCTGCTCCGTG ATCACGGCCGCCTCAGCTGCACAGAATCCTGATATTCCTGCTCCCGGCAA ACAAGGGAACATCTTCCTCTTGCTGGCTTGCCTCAGCAGCTTAGCTCAAA A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02280.hp1 NA20300.hp2 HG01243.hp2 HG02280.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0013 a0001c0001t0085 a0001c0004t0031 a0001c0001t0013 a0001c0001t0085 a0001c0004t0031	a0001c0001t0013g0288 a0001c0001t0085g0290 a0001c0004t0031g0289 a0001c0001t0013g0288 a0001c0001t0085g0290 a0001c0004t0031g0289	3	139	0.0216	500	c.17+ others(517): Show c.17+15013_17+15014insTTTTGAGCTAAGCTGCTGAGGCAAGCCA GCAAGAGGAAGATGTTCCCTTGTTTGCCGGGAGCAGGAATATCAGGATTC TGTGCAGCTGAGGCGGCCGTGATCACGGAGCAGGGACTGATCCATGCGTC CATATGTTTGCTTAAAGGGAACTTTCCCGGCCGGGCGCGATGGCTCACGC CTGTAAGCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCATGAGGTCAG GAGTTCCAGGCCCGCCTGGCCAACAGTGAAACCCGTCTCTACCAAAAATA CAAAAATTAGCCGGGCATGGTGGCGAGCACCTGTAGTCCTGGCTACTTGG GAGGCTGAGGCAAGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTG AGCTGAAATTGCACCACTGTACTCCAGCCTGGGCCACAGAGTGAGACTCT GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGACTTTCCCCCTTTGCC TTTGAGCTGTTTCCTCCTTTGC	SLC1A2	ENSG00000110436.13	transcript	ENST00000278379.9	protein_coding	1/10			chr11	TogoVar
SLC22A23_chr6_3263973_3462050	3356090	C C	CGGGGGGC others(493): Show CGGGGGGCGGCAGGGGGGAGGCGGGGGGGCGGGAGGGGAGGAGGCGGGGG GGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGCAGGGGGGAGGCGGGGGGG CGGGAGGGGAGGAGGCGGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGGCG GGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGCGGGAG GGGAGGAGGCGGGGGGGCGGGAGGGGGCCGGAGGGGGAGGAGGCGGGGGG GGGCGGGGGGGCGGGAGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGGAG GGGGGAGGCGGGGGGGGCGGGAGGGGGCGGGAGGGGAAGGAGGCGGGGGG GGCGGGGGGGAGGGAGGGGAAGGAGGCGGGGGGGGGCGGGAGGGGGAGGA CGCGGGGGGGGCGGGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGGA GGGGGGAGGCGGGAGGGGAAGGAGGCGGGGGGGGGCGGGGGGGGCGGGAG G	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	25	0.0400	500	c.914 others(519): Show c.914-32089_914-32088insCCTCCCGCCCCCCCCGCCCCCCCCCG CCTCCTTCCCCTCCCGCCTCCCCCCTCCCGCCCCCCCGCCTCCTCCCCCT CCCGCCCCCCCCCGCCCCCCCCGCGTCCTCCCCCTCCCGCCCCCCCCCGC CTCCTTCCCCTCCCTCCCCCCCGCCCCCCCCGCCTCCTTCCCCTCCCGCC CCCTCCCGCCCCCCCCGCCTCCCCCCTCCCGCCCCCCCGCCTCCTCCCCC TCCCGCCCCTCCCGCCCCCCCGCCCCCCCCCGCCTCCTCCCCCTCCGGCC CCCTCCCGCCCCCCCGCCTCCTCCCCTCCCGCCCCCCCGCCTCCCCCCTC CCGCCCCCCCGCCTCCTCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTCCC GCCCCCCCCGCCTCCTCCCCTCCCGCCCCCCCGCCTCCCCCCTGCCGCCC CCCCGCCTCCTCCCCCTCCCGCCCCCCCCCGCCTCCTCCCCTCCCGCCCC CCCGCCTCCCCCCTGCCGCCCCCC	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	3/9			chr6	TogoVar
SLC35F1_chr6_117902264_118322671	117923611	A A	ATATGTAC others(493): Show ATATGTACATATGTACATATATACATATGTATATATGCATATATGTACAT ATGTACATATATACATATGTATATATGCATATATGTACATATGTACATAT GTACATATGTATATATGCATATATGTACATATGTACATATGTACATATGT ATATATGCATATATGTACATATGTACATATGTACATATGTATATATGCAT ATATGTACATATGTACATATGTACATATGTATATATGCATATATGTACAT ATGTACATATGTACATATGTATATATGCATATATGTACATATGTACATAT GTACATATGTATATATGCATATATGTACATATGTACATATGTACATATGT ATATATGCATATATGTACATATGTACATATGTACATATGTATATATGCAT ATATGTACATATGTACATATGTACATATGTATATATGCATATATGTACAT ATGTACATATGTACATATGTATATATACATATATGTACATATGTATATAT G	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0130 a0001c0001t0014g0130	1	155	0.0065	500	c.173 others(519): Show c.173+15714_173+15715insTGTACATATGTACATATATACATATG TATATATGCATATATGTACATATGTACATATATACATATGTATATATGCA TATATGTACATATGTACATATGTACATATGTATATATGCATATATGTACA TATGTACATATGTACATATGTATATATGCATATATGTACATATGTACATA TGTACATATGTATATATGCATATATGTACATATGTACATATGTACATATG TATATATGCATATATGTACATATGTACATATGTACATATGTATATATGCA TATATGTACATATGTACATATGTACATATGTATATATGCATATATGTACA TATGTACATATGTACATATGTATATATGCATATATGTACATATGTACATA TGTACATATGTATATATGCATATATGTACATATGTACATATGTACATATG TATATATGCATATATGTACATATGTACATATGTACATATGTATATATACA TATATGTACATATGTATATATGTA	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC44A5_chr1_75197129_75616114	75280309	A A	AATATATA others(493): Show AATATATATATTGTATATATTATATATTGTATATATAATATATATATTGT ATATATTATATATTGTATATATAATATAATTGTATATATTATATATTGTA TATATAATATAATTGTATATATTATATATTGTATATATAATATATATATT GTATATATTATATATTGTATATATAATATATATATTGTATATATTATATA TTGTATATATAATATATATATTGTATATATTATATATTGTATATATAATA TATATATTGTATATATTATATATTGTATATATAATATATATATTGTATAT ATTATATATTGTATATATAATATATATATTGTATATATTATATATTGTAT ATATAATATATATATTGTATATATTATATATTGTATATATAATATATATA TTGTATATATTATATATTGTATATATAATATATATATTGTATATATTATA TATTGTATATATAATATATATATTGTATATATTATATATTGTATATATAA T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0120 a0001c0003t0001g0120	1	24	0.0417	500	c.176 others(517): Show c.176-5268_176-5267insATTATATATACAATATATAATATATACA ATATATATATTATATATACAATATATAATATATACAATATATATATTATA TATACAATATATAATATATACAATATATATATTATATATACAATATATAA TATATACAATATATATATTATATATACAATATATAATATATACAATATAT ATATTATATATACAATATATAATATATACAATATATATATTATATATACA ATATATAATATATACAATATATATATTATATATACAATATATAATATATA CAATATATATATTATATATACAATATATAATATATACAATATATATATTA TATATACAATATATAATATATACAATATATATATTATATATACAATATAT AATATATACAATTATATTATATATACAATATATAATATATACAATTATAT TATATATACAATATATAATATATACAATATATATATTATATATACAATAT ATAATATATACAATATATATAT	SLC44A5	ENSG00000137968.17	transcript	ENST00000370859.8	protein_coding	5/23			chr1	TogoVar
SLC9A3_chr5_465456_529449	487547	C C	CACCGCAC others(493): Show CACCGCACTGACACCCACCACACTGACACCGTGATCCAGACCGCACTGAC ACCCACCGCACTGACACCGTGATCCAGACCGCACTGACACCCACCACACT GACACCCACCGCACTGACACCCACCACACTGACACCGTGATCCAGACCGC ACTGACACCCACCGCACTGACACCGTGATCCAGACCGCACTGACACCCAC CACACTGACACCCACCACACTGACACCCACCGCACTGACACCGTGATCCC GACCGCACTGACACCCACCGCACTGACACCGTGATCCCGACTGCACTGAC ACCCACCGCACTGACACCGTGATCCAGACCGCACTGACACCCACCACACT GACACCCACCGCACTGACACCCACCGCACTGACACCGTGATCCAGACCGC ACTGACACCCACCGCACTGACACCGTGATCCAGACCGCACTGACACCCAC CACACTGACACCCACCGCACTGACACCCACCACACTGACACCGTGATCCA G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0097 a0002c0002t0002g0097	1	206	0.0049	500	c.675 others(515): Show c.675+768_675+769insCTGGATCACGGTGTCAGTGTGGTGGGTGTC AGTGCGGTGGGTGTCAGTGTGGTGGGTGTCAGTGCGGTCTGGATCACGGT GTCAGTGCGGTGGGTGTCAGTGCGGTCTGGATCACGGTGTCAGTGCGGTG GGTGTCAGTGCGGTGGGTGTCAGTGTGGTGGGTGTCAGTGCGGTCTGGAT CACGGTGTCAGTGCGGTGGGTGTCAGTGCAGTCGGGATCACGGTGTCAGT GCGGTGGGTGTCAGTGCGGTCGGGATCACGGTGTCAGTGCGGTGGGTGTC AGTGTGGTGGGTGTCAGTGTGGTGGGTGTCAGTGCGGTCTGGATCACGGT GTCAGTGCGGTGGGTGTCAGTGCGGTCTGGATCACGGTGTCAGTGTGGTG GGTGTCAGTGCGGTGGGTGTCAGTGTGGTGGGTGTCAGTGCGGTCTGGAT CACGGTGTCAGTGCGGTGGGTGTCAGTGCGGTCTGGATCACGGTGTCAGT GTGGTGGGTGTCAGTGCGGT	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	3/16			chr5	TogoVar
SLC9A3_chr5_465456_529449	487551	A A	ACACTGAC others(493): Show ACACTGACACCCACCACACTGACACCGTGATCCAGACCGCACTGACACCC ACCGCACTGACACCGTGATCCAGACCGCACTGACACCCACCACACTGACA CCCACCGCACTGACACCCACCACACTGACACCGTGATCCAGACCGCACTG ACACCCACCGCACTGACACCGTGATCCAGACCGCACTGACACCCACCACA CTGACACCCACCACACTGACACCCACCGCACTGACACCGTGATCCCGACC GCACTGACACCCACCGCACTGACACCGTGATCCCGACTGCACTGACACCC ACCGCACTGACACCGTGATCCAGACCGCACTGACACCCACCACACTGACA CCCACCGCACTGACACCCACCGCACTGACACCGTGATCCAGACCGCACTG ACACCCACCGCACTGACACCGTGATCCAGACCGCACTGACACCCACCACA CTGACACCCACCGCACTGACACCCACCACACTGACACCGTGATCCAGACC G	intron_variant intron_variant	MODIFIER	HG01109.hp1 NA18942.hp1 NA18943.hp1 others(3): Show HG01109.hp1 NA18942.hp1 NA18943.hp1 NA18945.hp2 NA18975.hp2 NA19012.hp2	a0001 a0002 a0001 a0002	a0001c0025 a0002c0002 a0001c0025 a0002c0002	a0001c0025t0001 a0002c0002t0002 a0002c0002t0003 others(1): Show a0001c0025t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0029	a0001c0025t0001g0083 a0002c0002t0002g0036 a0002c0002t0002g0076 others(3): Show a0001c0025t0001g0083 a0002c0002t0002g0036 a0002c0002t0002g0076 a0002c0002t0003g0172 a0002c0002t0003g0200 a0002c0002t0029g0179	6	173	0.0347	500	c.675 others(515): Show c.675+764_675+765insCGGTCTGGATCACGGTGTCAGTGTGGTGGG TGTCAGTGCGGTGGGTGTCAGTGTGGTGGGTGTCAGTGCGGTCTGGATCA CGGTGTCAGTGCGGTGGGTGTCAGTGCGGTCTGGATCACGGTGTCAGTGC GGTGGGTGTCAGTGCGGTGGGTGTCAGTGTGGTGGGTGTCAGTGCGGTCT GGATCACGGTGTCAGTGCGGTGGGTGTCAGTGCAGTCGGGATCACGGTGT CAGTGCGGTGGGTGTCAGTGCGGTCGGGATCACGGTGTCAGTGCGGTGGG TGTCAGTGTGGTGGGTGTCAGTGTGGTGGGTGTCAGTGCGGTCTGGATCA CGGTGTCAGTGCGGTGGGTGTCAGTGCGGTCTGGATCACGGTGTCAGTGT GGTGGGTGTCAGTGCGGTGGGTGTCAGTGTGGTGGGTGTCAGTGCGGTCT GGATCACGGTGTCAGTGCGGTGGGTGTCAGTGCGGTCTGGATCACGGTGT CAGTGTGGTGGGTGTCAGTG	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	3/16			chr5	TogoVar
SMIM36_chr17_55444856_55516452	55501087	A A	ATATCATA others(493): Show ATATCATATTTTATATTATAATATATAATATATATTATATTTTATAATAT ATAATATATTATATTTTATAATATATAATATATTATATTTTATAATATAT AATATATTATATTTTATAATATATAATATATTATATTTTATAATATATAA TATATTATATTTTATAATATATAATATATTATATATTATAATATATAATA TATTATATTTTATAATATATAATATATTATATTTTATAATATATAATATA TTATATTTTATAATATATAATATATTATATTTTATAATATATAAAATATT ATATTTTATAATATATAAAATATTATATTTTCTAATATATAAAATATATT ATATTTTATAATATATAAAATATATTATATTTTATAATATATAAAATATA TTATATTTTATAATATATAATATATATTATATTTTATAATATATAATATA TATTATATTTTATAATATATAATATATATTATATTTTATAATATATAATA T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02965.hp2 HG02257.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0025 a0001c0001t0012g0026 a0001c0001t0012g0025 a0001c0001t0012g0026	2	162	0.0123	500	c.17 others(519): Show c.174+9791_*174+9792insATATTATATATTATAAAATATAATAT ATATTATATATTATAAAATATAATATATATTATATATTATAAAATATAAT ATATATTATATATTATAAAATATAATATATTTTATATATTATAAAATATA ATATATTTTATATATTATAAAATATAATATATTTTATATATTAGAAAATA TAATATTTTATATATTATAAAATATAATATTTTATATATTATAAAATATA ATATATTATATATTATAAAATATAATATATTATATATTATAAAATATAAT ATATTATATATTATAAAATATAATATATTATATATTATAATATATAATAT ATTATATATTATAAAATATAATATATTATATATTATAAAATATAATATAT TATATATTATAAAATATAATATATTATATATTATAAAATATAATATATTA TATATTATAAAATATAATATATTATATATTATAAAATATAATATATATTA TATATTATAATATAAAATATGATA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SPNS3_chr17_4428940_4493204	4462610	C C	CATCCATC others(493): Show CATCCATCCATCCATCCATCCACCAATCTATCCATCCATCCATCCACCCA TCCGCCAATCCATCCATCCATCCATCCATCCACCAATCCATCCACCCACC CATCCACCAATCCATCCATCCACCCACCCACCCACCCACCCACCAATGCA TCCATCCACCCACCCACCCACCCACCCACCCATCCATCCACCAGTCTATC AATCCATCTATCCATCCATCCACCAATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCACCAGTCTATCAATCCATCTATCCATCCATC CACCAATCCATCCATCCATCCATCCATCCACCCATCCACCAATCCATCCA TCCACCAATCCATCCATCTACCCACCCACCAATCCATTCATCCATCCATC CATCCACCCACCCACCCACCCACCCACCCATTCATCCACCAATCTATCCA TCCATCCATCCATCCACCAATCTATCCATCCATCCATCCACCCATCCGCC A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0005 a0001c0031t0005	a0001c0031t0005g0033 a0001c0031t0005g0033	1	49	0.0204	500	c.111 others(519): Show c.1113+9432_1113+9433insTATCCATCCATCCATCCACCCATCCG CCAATCCATCCATCCATCCATCCATCCACCAATCCATCCACCCACCCATC CACCAATCCATCCATCCACCCACCCACCCACCCACCCACCAATGCATCCA TCCACCCACCCACCCACCCACCCACCCATCCATCCACCAGTCTATCAATC CATCTATCCATCCATCCACCAATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCACCAGTCTATCAATCCATCTATCCATCCATCCACC AATCCATCCATCCATCCATCCATCCACCCATCCACCAATCCATCCATCCA CCAATCCATCCATCTACCCACCCACCAATCCATTCATCCATCCATCCATC CACCCACCCACCCACCCACCCACCCATTCATCCACCAATCTATCCATCCA TCCATCCATCCACCAATCTATCCATCCATCCATCCACCCATCCGCCAATC CATCCATCCATCCATCCACCAATC	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
STAB2_chr12_103582273_103771719	103768604	G G	GGGGAGGG others(493): Show GGGGAGGGAGGGGGAGAGGGGGGACAGGGAGGGAGGGAGAGGGAGGGGTA GGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGGGGAGGGAGAGGGACA GGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGGACAGGGAGAGGGAGA GAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGGGGAGAGGGGGGAGAGA GAGGGAGGGGGCGGGAGGGGAGGGAGAGGGACAGGGAGAGGGAGGGAGAG GGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGGGAGAGGGAGAGGGAGGGAGGGGGGAGGGAGAGAGATGGGGGAGGGGG AGGGAGAGGGATGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGACAGGG GGAGGGAGAAGGAGAGGGAGAGGGGGAGGGAGAGGGAGAGAGAGGGAGAG GGAGAGAGAGGGAAAGGGAGTGAGAGAGAGAGGGAGAGAGAGGGAGAGAG A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0024 a0024	a0024c0109 a0024c0109	a0024c0109t0001 a0024c0109t0001	a0024c0109t0001g0229 a0024c0109t0001g0229	1	131	0.0076	500	c.22 others(511): Show c.2268_*2269insGGGAGGGAGGGGGAGAGGGGGGACAGGGAGGGAG GGAGAGGGAGGGGTAGGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGG GGAGGGAGAGGGACAGGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGG ACAGGGAGAGGGAGAGAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGGG GAGAGGGGGGAGAGAGAGGGAGGGGGCGGGAGGGGAGGGAGAGGGACAGG GAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGGGAGAGGGAGAGGGAGGGAGGGGGGAGGGAGAG AGATGGGGGAGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGATGGGGGA GGGAGAGGGACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAGGGAGAGG GAGAGAGAGGGAGAGGGAGAGAGAGGGAAAGGGAGTGAGAGAGAGAGGGA GAGAGAGGGAGAGAGA	STAB2	ENSG00000136011.15	transcript	ENST00000388887.7	protein_coding		1886		chr12	TogoVar
TBCD_chr17_82747065_82950914	82849190	T T	TCCACCTC others(493): Show TCCACCTCGATGTCCCCCTCTGCCTGCTGCGTCTTCTCCACCTCGATGTC CCCCTCTGCCTGCTGCGTCTTCTCCACCTCGATGTCCCCCTCTGCCTGCT GCGTCTTCTCCACCTCGATGTCCCCCTCTGCCTGCTGCGTCTTCTCCACC TCGATGTCCCCCTCTGTCTGCTGCATCTTCTCCACCTCGATGTCCCCCTC TGCCTGCTGCGTCTTCTCCACCTCGATGTCCCCCTCTGTCTGCTGCGTCT TCTCCACCTCGATGTCCCCCTCTGCCTGCTGCGTCTTCTCACCTCGATGT CCCCCTCTGCCTGCTGCGTCTTCTCACCTCGATGTCCCCCTCTGCCTGCT GCGTCTTCTCCACCTCGATGTTCCCCTCTGCCTGCTGCGTCTTCTCCATC TCGATGTCCCCCTCTGCCTGCTGCGTCTTCTCACCTCGATGTCCCCCTCT GCCTGCTGCGTCTTCTCCACCTCAATGTCCCCCGCTCTGCTGCATCTTCT C	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA20300.hp2 HG01891.hp1 NA20300.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0023 a0002c0007t0023	a0002c0007t0023g0172 a0002c0007t0023g0173 a0002c0007t0023g0172 a0002c0007t0023g0173	2	298	0.0067	500	c.131 others(521): Show c.1319-21033_1319-21032insCACCTCGATGTCCCCCTCTGCCTG CTGCGTCTTCTCCACCTCGATGTCCCCCTCTGCCTGCTGCGTCTTCTCCA CCTCGATGTCCCCCTCTGCCTGCTGCGTCTTCTCCACCTCGATGTCCCCC TCTGCCTGCTGCGTCTTCTCCACCTCGATGTCCCCCTCTGTCTGCTGCAT CTTCTCCACCTCGATGTCCCCCTCTGCCTGCTGCGTCTTCTCCACCTCGA TGTCCCCCTCTGTCTGCTGCGTCTTCTCCACCTCGATGTCCCCCTCTGCC TGCTGCGTCTTCTCACCTCGATGTCCCCCTCTGCCTGCTGCGTCTTCTCA CCTCGATGTCCCCCTCTGCCTGCTGCGTCTTCTCCACCTCGATGTTCCCC TCTGCCTGCTGCGTCTTCTCCATCTCGATGTCCCCCTCTGCCTGCTGCGT CTTCTCACCTCGATGTCCCCCTCTGCCTGCTGCGTCTTCTCCACCTCAAT GTCCCCCGCTCTGCTGCATCTTCTCC	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	13/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
THBS2_chr6_169210785_169258846	169242800	T T	TTCCCACC others(493): Show TTCCCACCTTCCCACTGCTCCCACCTTCCCACCTTCCCACATTCCCACCT TCCCACATTCCCACCTTCCCACCACTCCCACCTTCCCACCTTCCCACCTT CCCACTGCTCCCACCTTCCCACCTTCCCACATTCCCACCTTCCCACCTTC CCACCTTCCCACCTTCCCACCTTCCCACCGCTCCCACCTTCCCACCTTCC CACATTCCCACCTTCCCACCTTCCCACTGCTCCCACCTTCCCACCTTCCC ACATTCCCACCTTCCCACATTCCCACCTTCCCACCTTCCCACTGCTCCCA CCTTCCCACCTTCCCACCACTCCTACCTTCCTACCTTCCCACCGCTCCCA CATTCTCACCTTCCCACCTTTCCACCTTCCCACCACTCCTACCTTCCCAC CTTCCCACATTCCCACCTTCCCACCTTCCCACATTCCCACCTTCCCACCT TCCCACCGCTCCCACCTTCCCACCTTCCCACCGCTCCCACCTTCCCATCA C	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0316 a0001c0005t0005g0316	1	392	0.0026	500	c.695 others(515): Show c.695-843_695-842insGTGATGGGAAGGTGGGAGCGGTGGGAAGGT GGGAAGGTGGGAGCGGTGGGAAGGTGGGAAGGTGGGAATGTGGGAAGGTG GGAAGGTGGGAATGTGGGAAGGTGGGAAGGTAGGAGTGGTGGGAAGGTGG AAAGGTGGGAAGGTGAGAATGTGGGAGCGGTGGGAAGGTAGGAAGGTAGG AGTGGTGGGAAGGTGGGAAGGTGGGAGCAGTGGGAAGGTGGGAAGGTGGG AATGTGGGAAGGTGGGAATGTGGGAAGGTGGGAAGGTGGGAGCAGTGGGA AGGTGGGAAGGTGGGAATGTGGGAAGGTGGGAAGGTGGGAGCGGTGGGAA GGTGGGAAGGTGGGAAGGTGGGAAGGTGGGAAGGTGGGAATGTGGGAAGG TGGGAAGGTGGGAGCAGTGGGAAGGTGGGAAGGTGGGAAGGTGGGAGTGG TGGGAAGGTGGGAATGTGGGAAGGTGGGAATGTGGGAAGGTGGGAAGGTG GGAGCAGTGGGAAGGTGGGA	THBS2	ENSG00000186340.17	transcript	ENST00000617924.6	protein_coding	4/21			chr6	TogoVar
THBS2_chr6_169210785_169258846	169242800	T T	TTCCCACC others(493): Show TTCCCACCTTCCCACTGCTCCCACCTTCCCACCTTCCCACATTCCCACCT TCCCACATTCCCACCTTCCCACCACTCCCACCTTCCCACCTTCCCACCTT CCCACTGCTCCCACCTTCCCACCTTCCCACATTCCCACCTTCCCACCTTC CCACCTTCCCACCTTCCCACCTTCCCACCGCTCCCACCTTCCCACCTTCC CACATTCCCACCTTCCCACCTTCCCACTGCTCCCACCTTCCCACCTTCCC ACATTCCCACCTTCCCACATTCCCACCTTCCCACCTTCCCACTGCTCCCA CCTTCCCACCTTCCCACCACTCCTACCTTCCTACCTTCCCACCGCTCCCA CATTCTCACCTTCCCACCTTTCCACCTTCCCACCACTCCTACCTTCCCAC CTTCCCACATTCCCACCTTCCCACCTTCCCACATTCCCACCTTCCCACCT TCCCACCGCTCCCACCTTCCCACCTTCCCACTGCTCCCACCTTCCCATCA C	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0322 a0001c0005t0005g0322	1	392	0.0026	500	c.695 others(515): Show c.695-843_695-842insGTGATGGGAAGGTGGGAGCAGTGGGAAGGT GGGAAGGTGGGAGCGGTGGGAAGGTGGGAAGGTGGGAATGTGGGAAGGTG GGAAGGTGGGAATGTGGGAAGGTGGGAAGGTAGGAGTGGTGGGAAGGTGG AAAGGTGGGAAGGTGAGAATGTGGGAGCGGTGGGAAGGTAGGAAGGTAGG AGTGGTGGGAAGGTGGGAAGGTGGGAGCAGTGGGAAGGTGGGAAGGTGGG AATGTGGGAAGGTGGGAATGTGGGAAGGTGGGAAGGTGGGAGCAGTGGGA AGGTGGGAAGGTGGGAATGTGGGAAGGTGGGAAGGTGGGAGCGGTGGGAA GGTGGGAAGGTGGGAAGGTGGGAAGGTGGGAAGGTGGGAATGTGGGAAGG TGGGAAGGTGGGAGCAGTGGGAAGGTGGGAAGGTGGGAAGGTGGGAGTGG TGGGAAGGTGGGAATGTGGGAAGGTGGGAATGTGGGAAGGTGGGAAGGTG GGAGCAGTGGGAAGGTGGGA	THBS2	ENSG00000186340.17	transcript	ENST00000617924.6	protein_coding	4/21			chr6	TogoVar
THEG_chr19_356747_381026	377471	T T	TGTGCCCC others(493): Show TGTGCCCCACCCAGCCTCTACCCCCCCGTGCCCCACCCAGCCTCTCCCCC TCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCC CCCCCGTGCCCCACCCAGCCTCTCCCCCCCCGTGCCCCACCCAGCCTCTC CCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTC TCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCCTGTGCCCCCACCCAGC CTCTCCCCCCCCGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCA GCCTCTCCCCCCCGTGCCTCCACCCAGCCTCTCCCCCTCTGTGCCCCACC CAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCCCCCGTGCCC CCACCCAGCCTCTCCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGT GCCCCACCCAGCCTCTCCCCCCCCGTGCCCCACCCAGCCTCTCCCCCCCC C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0045 a0001c0001t0002g0045	1	360	0.0028	500	c.-15 others(511): Show c.-1502_-1501insGGGGGGGGGAGAGGCTGGGTGGGGCACGGGGGGG GAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGG GGGGAGAGGCTGGGTGGGGGCACGGGGGGGGGAGAGGCTGGGTGGGGGCA CAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGAG GCACGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGG GGCACGGGGGGGGAGAGGCTGGGTGGGGGCACAGGGGGGAGAGGCTGGGT GGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTG GGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACGGGGGGGGAGAGGC TGGGTGGGGCACGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGG CTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACGGGGGGGTAG AGGCTGGGTGGGGCAC	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1446		chr19	TogoVar

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