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
PTPN9_chr15_75458251_75584315	75481598	C C	CGGGAGGG others(395): Show CGGGAGGGAGATGGGGGGGTCAGCCCCCCCACCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTAGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCTG GGAGGTGAGGGGCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGC CCCTCTGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGTCAGCC CCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCC TCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGG CCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGT CCG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00621.hp2 others(12): Show HG00099.hp2 HG00140.hp2 HG00621.hp2 HG00639.hp1 HG01496.hp2 HG01891.hp2 HG02004.hp2 HG02258.hp1 HG02451.hp1 HG02630.hp2 HG02970.hp2 HG02976.hp2 HG03239.hp2 NA20129.hp2 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0006 a0001c0001t0011 a0001c0001t0020 others(4): Show a0001c0001t0006 a0001c0001t0011 a0001c0001t0020 a0001c0001t0021 a0001c0001t0035 a0001c0001t0042 a0003c0006t0011	a0001c0001t0006g0297 a0001c0001t0006g0313 a0001c0001t0006g0314 others(12): Show a0001c0001t0006g0297 a0001c0001t0006g0313 a0001c0001t0006g0314 a0001c0001t0006g0316 a0001c0001t0011g0279 a0001c0001t0011g0281 a0001c0001t0011g0282 a0001c0001t0011g0283 a0001c0001t0011g0284 a0001c0001t0020g0315 a0001c0001t0021g0312 a0001c0001t0021g0319 a0001c0001t0035g0304 a0001c0001t0042g0322 a0003c0006t0011g0280	15	173	0.0867	402	c.106 others(421): Show c.1063-1685_1063-1684insCGGACGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTC CCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCACCTCCCTCCT GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCG GAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGG GGGGCTGACCCCCCTACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGG GGGGCTGACCCCCCCATCTCCCTCCC	PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	8/12			chr15	TogoVar
PTPN9_chr15_75458251_75584315	75481598	C C	CGGGAGGG others(395): Show CGGGAGGGAGATGGGGGGGTCAGCCCCCCCACCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTAGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCTG GGAGGTGAGGGGCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGC CCCTCTGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGTCAGCC CCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCC TCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGG CCGCCCCTATTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCACCCCGT CCG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0300 a0001c0001t0043g0300	1	159	0.0063	402	c.106 others(421): Show c.1063-1685_1063-1684insCGGACGGGGTGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAATAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTC CCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCACCTCCCTCCT GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCG GAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGG GGGGCTGACCCCCCTACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGG GGGGCTGACCCCCCCATCTCCCTCCC	PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	8/12			chr15	TogoVar
PTPN9_chr15_75458251_75584315	75481598	C C	CGGGAGGG others(395): Show CGGGAGGGAGATGGGGGGGTCAGCCCCCCCACCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTAGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCTG GGAGGTGAGGGGCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGC CCCTCTGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGTCAGCC CCCCGCCTGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCC TCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGG CCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCACCCCGT CCG	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0268 a0001c0001t0002g0268	1	159	0.0063	402	c.106 others(421): Show c.1063-1685_1063-1684insCGGACGGGGTGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTC CCGGACAGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCT GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCG GAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGG GGGGCTGACCCCCCTACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGG GGGGCTGACCCCCCCATCTCCCTCCC	PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	8/12			chr15	TogoVar
PTPN9_chr15_75458251_75584315	75481598	C C	CGGGAGGG others(395): Show CGGGAGGGAGATGGGGGGGTCAGCCCCCCCACCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTAGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCTG GGAGGTGAGGGGCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGT CCCTCTGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGTCAGCC CCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCC TCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGG CCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGT CCG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00642.hp1 HG00738.hp2 others(5): Show HG00323.hp1 HG00642.hp1 HG00738.hp2 HG00741.hp1 HG01123.hp1 HG01361.hp2 HG01884.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0302 a0001c0001t0006g0303 a0001c0001t0006g0305 others(5): Show a0001c0001t0006g0302 a0001c0001t0006g0303 a0001c0001t0006g0305 a0001c0001t0006g0306 a0001c0001t0006g0307 a0001c0001t0006g0310 a0001c0001t0006g0311 a0001c0001t0006g0320	8	166	0.0482	402	c.106 others(421): Show c.1063-1685_1063-1684insCGGACGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTC CCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCACCTCCCTCCT GGACGGGGCGGCTGGCCGGGCAGAGGGACTCCTCACTTCCCAGTAGGGGC GGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCG GAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGG GGGGCTGACCCCCCTACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGG GGGGCTGACCCCCCCATCTCCCTCCC	PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	8/12			chr15	TogoVar
PTPN9_chr15_75458251_75584315	75481598	C C	CGGGAGGG others(395): Show CGGGAGGGAGATGGGGGGGTCAGCCCCCCCACCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTAGGGGGGTCAGCCCCCTGCCTGGCCAGCCGCCCCATCC GGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCTG GGAGGTGAGGGGCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGC CCCTCTGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGTCAGCC CCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCC TCCTCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGG CCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGT CCG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0285 a0001c0001t0040g0285	1	159	0.0063	402	c.106 others(421): Show c.1063-1685_1063-1684insCGGACGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCAGACGGGGCGGCTGGCCGGGAGGAGGGCTGACCCCCCCACCTCCCTC CCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCACCTCCCTCCT GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCG GAGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCAG GGGGCTGACCCCCCTACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGG GGGGCTGACCCCCCCATCTCCCTCCC	PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	8/12			chr15	TogoVar
PTPN9_chr15_75458251_75584315	75481598	C C	CGGGAGGG others(395): Show CGGGAGGGAGATGGGGGGGTCAGCCCCCCCACCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTAGTGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCC GGGAGGGAGGTCGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCTG GGAGGTGAGGGGCGCCTCTGCCCAGCCGCCCCTATTGGGAAGTGAGGAGC CCCTCTGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGTCAGCC CCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCC TCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGG CCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCACCCCGT CCG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0286 a0001c0001t0036g0286	1	159	0.0063	402	c.106 others(421): Show c.1063-1685_1063-1684insCGGACGGGGTGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTC CCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCACCTCCCTCCT GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAATAGGGGC GGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCG GAGGGCTGACCCCCCGACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGG GGGGCTGACCCCACTACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGG GGGGCTGACCCCCCCATCTCCCTCCC	PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	8/12			chr15	TogoVar
PTPN9_chr15_75458251_75584315	75481598	C C	CGGGAGGG others(395): Show CGGGAGGGAGATGGGGGGGTCAGCCCCCCCACCGGGCCAGCCGCCCCGTC CGGGAGGGAGGTAGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCTG GGAGGTGAGGGGCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGC CCCTCTGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGTCAGCC CCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCC TCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGG CCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCACCCCGT CCG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03453.hp2 HG03041.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0243 a0001c0001t0002g0245 a0001c0001t0002g0243 a0001c0001t0002g0245	2	160	0.0125	402	c.106 others(421): Show c.1063-1685_1063-1684insCGGACGGGGTGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTC CCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCACCTCCCTCCT GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCG GAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGG GGGGCTGACCCCCCTACCTCCCTCCCGGACGGGGCGGCTGGCCCGGTGGG GGGGCTGACCCCCCCATCTCCCTCCC	PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	8/12			chr15	TogoVar
RAB11FIP3_chr16_420649_528011	468286	A A	AGGGGTGT others(395): Show AGGGGTGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGGC CTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGAAGTCAGG GAGGAGGTGCAGGGGCGTCAGGGAGGAGATGCTGGGACGTCAGGGAGGAG GTCCTTGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGATGCCG GGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGGCGT CAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGAGGTCCTGGGGCGTCAG GGAGGAGGTGCAGGGGCGTCAGGGAGGAGGAGGTCCTGGGGCGTCAGGGA GGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGT GCT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03041.hp2 NA19240.hp1 HG02976.hp1 HG03041.hp2 NA19240.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0011 a0001c0001t0041 a0004c0007t0022 a0001c0001t0011 a0001c0001t0041 a0004c0007t0022	a0001c0001t0011g0079 a0001c0001t0041g0078 a0004c0007t0022g0185 a0001c0001t0011g0079 a0001c0001t0041g0078 a0004c0007t0022g0185	3	252	0.0119	402	c.809 others(419): Show c.809-3005_809-3004insTGTCAGGGAGGAGGTGCAGGGGCGTCAG GGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGA GGTGCAGGGAAGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGATGCT GGGACGTCAGGGAGGAGGTCCTTGGGCGTCAGGGAGGAGGTGCTGGGGCG TCAGGGAGGAGATGCCGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGG AGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGG AGGTCCTGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGAGG TCCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGG GGCGTCAGGGAGGAGGTGCTGGGG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	492487	T T	TTCCCGGG others(395): Show TTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCC GTCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCCGGGA GACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGG CCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGA GGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCC CGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCC CAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGA CCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCC CTC	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0087 a0001c0001t0017g0087	1	192	0.0052	402	c.126 others(421): Show c.1265+3487_1265+3488insTCCCGGGAGACCCGAGGCCGCCCAGA GCCCTCCCGGGAGACCCGAGGCCGTCCAGAGCCCTCCCGGGAGACCCGAG GCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCC GGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCC AGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGAC CCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCC TCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGC CGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGG GAGACCCGAGGCCGCCCAGGGCCCTC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13			chr16	TogoVar
RAN_chr12_130867066_130882678	130882249	C C	CGTCTGTG others(395): Show CGTCTGTGGATCTGCGTGGTCTCCATCACTGATCTCACCTCTAGGTACTC CCGAGAGTGCCTCCTCCATCACCACAGATCCGCGTAGCCTGCATCACTGA TCTCACCTCTAGGTACTCCTGAGAACTCCTCCTCCGTCTGTGGATCTGCG TGGTCTCCATCACTGATCTCACCTCTAGGTACTCCCGAGAGTGCCTCCTC CATCACCACAGATCCGCGTAGCCTGCATCACTGATCTCACCTCTAGGTAC TCCTGAGAACTCCTCCTCCGTCTGTGGATCTGCGTGGTCTCCATCACTGA TCTCACCTCTAGGTACTCCCGAGAGTGCCTCCTCCATCACCACAGATCCG CGTAGCCTGCATCACTGATCTCACCTCTAGGTACTCCTGAGAACTCCTCC TCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	424	0.0024	402	c.63 others(413): Show c.6323_*6324insGTCTGTGGATCTGCGTGGTCTCCATCACTGATCT CACCTCTAGGTACTCCCGAGAGTGCCTCCTCCATCACCACAGATCCGCGT AGCCTGCATCACTGATCTCACCTCTAGGTACTCCTGAGAACTCCTCCTCC GTCTGTGGATCTGCGTGGTCTCCATCACTGATCTCACCTCTAGGTACTCC CGAGAGTGCCTCCTCCATCACCACAGATCCGCGTAGCCTGCATCACTGAT CTCACCTCTAGGTACTCCTGAGAACTCCTCCTCCGTCTGTGGATCTGCGT GGTCTCCATCACTGATCTCACCTCTAGGTACTCCCGAGAGTGCCTCCTCC ATCACCACAGATCCGCGTAGCCTGCATCACTGATCTCACCTCTAGGTACT CCTGAGAACTCCTCCTCT	RAN	ENSG00000132341.12	transcript	ENST00000543796.6	protein_coding		4572		chr12	TogoVar
RBPMS_chr8_30379541_30577256	30388398	G G	GCTTATAA others(395): Show GCTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTATAGCTATAGC TATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACT TATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGC TAA	intron_variant intron_variant	MODIFIER	HG01123.hp1 NA19081.hp1 HG01123.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0024 a0001c0001t0001 a0001c0001t0024	a0001c0001t0001g0011 a0001c0001t0024g0012 a0001c0001t0001g0011 a0001c0001t0024g0012	2	175	0.0114	402	c.66+ others(417): Show c.66+3483_66+3484insGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTATAGCTATAGCTATAAGCTAACTTATAACTTATAG CTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACT TATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGC TATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACT TATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGC TAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCT ATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTA TAACTTATAGCTATAGCTATAA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RBPMS_chr8_30379541_30577256	30388398	G G	GCTTATAA others(395): Show GCTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAAGCTAACTTATAACTATAGCTATAGCTATAAGCTAACTTATAACT TATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGC TAA	intron_variant intron_variant	MODIFIER	HG01975.hp2 NA20129.hp1 HG01975.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0013 a0001c0001t0001g0014	2	175	0.0114	402	c.66+ others(417): Show c.66+3483_66+3484insGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTATAG CTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACT TATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGC TATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACT TATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGC TAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCT ATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTA TAACTTATAGCTATAGCTATAA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RBPMS_chr8_30379541_30577256	30388398	G G	GCTTATAA others(395): Show GCTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAAC TATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGC TAA	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02273.hp2 HG01993.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0017 a0001c0001t0003g0016 a0001c0001t0001g0017 a0001c0001t0003g0016	2	175	0.0114	402	c.66+ others(417): Show c.66+3483_66+3484insGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTATAGCTATAGCTATAAGCTAACT TATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGC TATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACT TATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGC TAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCT ATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTA TAACTTATAGCTATAGCTATAA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RPH3AL_chr17_207389_357807	253757	T T	TACTTCCT others(395): Show TACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGG AATGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGT CCTTTTCCATCCCTAGGAACGTGACTACCCTACGCACTTCCTATGAGGGG AGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAATATGACTACCCTAC GTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAG GAATGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTG TCCTTTTCCATCCCTAGGAACGTTACTACCCTACGTACTTCCTATGAGGG GAGCTGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTA CGC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01255.hp2 HG00099.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0114 a0001c0001t0004g0092 a0001c0001t0001g0114 a0001c0001t0004g0092	2	132	0.0152	402	c.439 others(419): Show c.439-6473_439-6472insGCGTAGGGTAGTCACGTTCCTAGGGATG GAAAAGGACAGACGCCGTGCAGCTCCCCTCATAGGAAGTACGTAGGGTAG TAACGTTCCTAGGGATGGAAAAGGACAGACGCCGTGCGGCTCCCCTCATA GGAAGTACGTAGGGTAGTCACATTCCTAGGGATGGAAAAGGACAGACGCC GTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCATATTCCTAGGGAT GGAAAAGGACAGACGCCGTGCGGCTCCCCTCATAGGAAGTGCGTAGGGTA GTCACGTTCCTAGGGATGGAAAAGGACAGACGCCGTGCGGCTCCCCTCAT AGGAAGTACGTAGGGTAGTCACATTCCTAGGGATGGAAAAGGACAGACGC CGTGCGGCTCCCCTCATAGGAAGT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	254119	G G	GTCTGTCC others(395): Show GTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTAT GAGGGGAGCCGCACGGTGTCTGTCCTTTTCCATCCCTAGGAACGTGACTA CCCTACGTACTTCCTATAAGGGGAGCTGCACGGTGTCTGTCCTTTTCCAT CCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGG CGTCTGTCCTTTTCCATCCCTAGGAATGTGACTACCCTACGTACTTCCTA TGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACT ACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCG TCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACG GCA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	129	0.0078	402	c.439 others(419): Show c.439-6835_439-6834insTGCCGTGCGGCTCCCCTCATAGGAAGTA CGTAGGGTAGTCACATTCCTAGGGACGGAAAAGGACAGACGCCGTGCGGC TCCCCTCATAGGAAGTACGTAGGGTAGTCACGTTCCTAGGGATGGAAAAG GACAGACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACAT TCCTAGGGATGGAAAAGGACAGACGCCGTGCGGCTCCCCTCATAGGAAGT ACGTAGGGTAGTCACATTCCTAGGGATGGAAAAGGACAGACACCGTGCAG CTCCCCTTATAGGAAGTACGTAGGGTAGTCACGTTCCTAGGGATGGAAAA GGACAGACACCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACG TTCCTAGGGATGGAAAAGGACAGA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	254145	G G	ATGACTAC others(395): Show ATGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCT TTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAGC CGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACGTA CTTCCTATGAGGGGAGCCGCACGGTGTCTGTCCTTTTCCGTCCCTAGGAA TGTGACTACCCTACGTACTTCCTATGAGGGGAGTCGCACGGCGTCTGTCC TTTTCCATCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAG CCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAATGTGACTACCCTACGT ACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGA ACG	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0078	1	128	0.0078	402	c.439 others(419): Show c.439-6860_439-6859insGTTCCTAGGGATGGAAAAGGACAGACGC CGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACATTCCTAGGGA TGGAAAAGGACAGACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGT AGTCACATTCCTAGGGATGGAAAAGGACAGACGCCGTGCGACTCCCCTCA TAGGAAGTACGTAGGGTAGTCACATTCCTAGGGACGGAAAAGGACAGACA CCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACGTTCCTAGGG ATGGAAAAGGACAGACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGG TAGTCACGTTCCTAGGGATGGAAAAGGACAGACGCCGTGCGGCTCCCCTC ATAGGAAGTACGTAGGGTAGTCAT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	254195	T T	TTTCCATC others(395): Show TTTCCATCCCTAGGAACGTGACTACCCTACGCACTTCCTATGAGGGGAGC CGCACGGCGTCTGTCCTGTTCCATCCCTAGGAACGTGACTACCCTACGCA CTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTGTTCCATCCCTAGGAA CGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCC TTTTCCATCCCTAGGAACGTGACTACCCTACGCACTTCCTATGAGGGGAG CCGCACGGCGTCTGTCCTGTTCCATCCCTAGGAACGTGACTACCCTACGC ACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTGTTCCATCCCTAGGA ACGTGACTACCCTACGCACTTCCTATGAGGGGAGCCGCACGGCGTCTGTC CTG	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0042 a0001c0001t0008g0042	1	126	0.0079	402	c.439 others(419): Show c.439-6911_439-6910insCAGGACAGACGCCGTGCGGCTCCCCTCA TAGGAAGTGCGTAGGGTAGTCACGTTCCTAGGGATGGAACAGGACAGACG CCGTGCGGCTCCCCTCATAGGAAGTGCGTAGGGTAGTCACGTTCCTAGGG ATGGAACAGGACAGACGCCGTGCGGCTCCCCTCATAGGAAGTGCGTAGGG TAGTCACGTTCCTAGGGATGGAAAAGGACAGACGCCGTGCGGCTCCCCTC ATAGGAAGTACGTAGGGTAGTCACGTTCCTAGGGATGGAACAGGACAGAC GCCGTGCGGCTCCCCTCATAGGAAGTGCGTAGGGTAGTCACGTTCCTAGG GATGGAACAGGACAGACGCCGTGCGGCTCCCCTCATAGGAAGTGCGTAGG GTAGTCACGTTCCTAGGGATGGAA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	254870	A A	ATCCCTAG others(395): Show ATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCAC GGCGTCTGTCCTTTTCCGTCCCTAGGAACGTGACTACCCTACGTACTTCC TATGAGGGGAGCCGCACGGTGTCTGTCCTTTTCCGTCCCTAGGAACGTGA CTACCCAACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTC CATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCA CGGTGTCTGTCCTTTTCCGTCCCTAGGAACGTGACTACCCTACGTACTTC CTATGAGGGGAGCCGCACGGTGTCTGTCCTTTTCCGTCCCTAGGAACGTG ACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGTGTCTGTCCTGTT CTG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0118 a0001c0001t0027g0118	1	103	0.0097	402	c.439 others(419): Show c.439-7586_439-7585insCAGAACAGGACAGACACCGTGCGGCTCC CCTCATAGGAAGTACGTAGGGTAGTCACGTTCCTAGGGACGGAAAAGGAC AGACACCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACGTTCC TAGGGACGGAAAAGGACAGACACCGTGCGGCTCCCCTCATAGGAAGTACG TAGGGTAGTCACGTTCCTAGGGATGGAAAAGGACAGACGCCGTGCGGCTC CCCTCATAGGAAGTACGTTGGGTAGTCACGTTCCTAGGGACGGAAAAGGA CAGACACCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACGTTC CTAGGGACGGAAAAGGACAGACGCCGTGCGGCTCCCCTCATAGGAAGTAC GTAGGGTAGTCACGTTCCTAGGGA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	255324	C C	CGTCTGCC others(395): Show CGTCTGCCCTTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTA TAAGGGGAGCTGCACGGTGTCTGTCCTTTTCCATCCCTAGGAACGTGACT ACCCTACGTACTTCCTATAAGGGGAGCTGCACGGTGTCTGTCCTTTTCCA TCCCTAGGAATGTGACTACCCTACGTACTTCCTATAAGGGGAGCTGCACG GTGTCTGTCCTTTTCCGTCCCTAGGAATGTGACTACCCTACGTACTTCCT ATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGAC TACCCTACGTACTTCCTATGAGGGGAGCTGCACGGTGTCTGTCCTTTTCC ATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAGCTGCAC GGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	123	0.0081	402	c.439 others(419): Show c.439-8040_439-8039insACCGTGCAGCTCCCCTCATAGGAAGTAC GTAGGGTAGTCACGTTCCTAGGGATGGAAAAGGACAGACACCGTGCAGCT CCCCTCATAGGAAGTACGTAGGGTAGTCACGTTCCTAGGGATGGAAAAGG ACAGACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACATT CCTAGGGACGGAAAAGGACAGACACCGTGCAGCTCCCCTTATAGGAAGTA CGTAGGGTAGTCACATTCCTAGGGATGGAAAAGGACAGACACCGTGCAGC TCCCCTTATAGGAAGTACGTAGGGTAGTCACGTTCCTAGGGATGGAAAAG GACAGACACCGTGCAGCTCCCCTTATAGGAAGTACGTAGGGTAGTCACGT TCCTAGGGATGGAAAAGGGCAGAC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	255785	C C	CCGCACGG others(395): Show CCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACGT ACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGA ACGTGACTACCCTACGTACTTCCTATGAGGGGAGCTGCACGGTGTCTGTC CTTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGA GCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGGGACTACCCTACG TACTTCCTATGAGGGGAGCCGCACGGTGTCTGTCCTTTTCCATCCCTAGG AATGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGT CCTTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGG AGT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0075 a0001c0003t0001g0075	1	129	0.0078	402	c.439 others(419): Show c.439-8501_439-8500insACTCCCCTCATAGGAAGTACGTAGGGTA GTCACGTTCCTAGGGATGGAAAAGGACAGACGCCGTGCGGCTCCCCTCAT AGGAAGTACGTAGGGTAGTCACATTCCTAGGGATGGAAAAGGACAGACAC CGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCCCGTTCCTAGGGA TGGAAAAGGACAGACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGT AGTCACGTTCCTAGGGATGGAAAAGGACAGACACCGTGCAGCTCCCCTCA TAGGAAGTACGTAGGGTAGTCACGTTCCTAGGGATGGAAAAGGACAGACG CCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACGTTCCTAGGG ATGGAAAAGGACAGACGCCGTGCG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	255920	C C	CGCACGGC others(395): Show CGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACGTA CTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAA CGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCC TTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAG CCGCACGGCGTCTGTCCTTTTCCGTCCCTAGGAATGTGACTACCCTACGT ACTTCCTATGAGGGGAGTCGCACGGCGTCTGTCCTTTTCCGTCCCTAGGA ATGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGTGTCTGTC CTTTTCCATCCCTAGGAATGTGACTACCCTACGTACTTCCTATAAGGGGA GCT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0069 a0001c0001t0002g0069	1	123	0.0081	402	c.439 others(419): Show c.439-8636_439-8635insAGCTCCCCTTATAGGAAGTACGTAGGGT AGTCACATTCCTAGGGATGGAAAAGGACAGACACCGTGCGGCTCCCCTCA TAGGAAGTACGTAGGGTAGTCACATTCCTAGGGACGGAAAAGGACAGACG CCGTGCGACTCCCCTCATAGGAAGTACGTAGGGTAGTCACATTCCTAGGG ACGGAAAAGGACAGACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGG TAGTCACGTTCCTAGGGATGGAAAAGGACAGACGCCGTGCGGCTCCCCTC ATAGGAAGTACGTAGGGTAGTCACGTTCCTAGGGATGGAAAAGGACAGAC GCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACGTTCCTAGG GATGGAAAAGGACAGACGCCGTGC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	256062	G G	GTCTGTCC others(395): Show GTCTGTCCTGTTCCGTCCCTAGGAATGTGACTACCCTACGTACTTCCTAT GAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTA CCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTGTTCCGT CCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGG CGTCTGTCCTTTTCCATCCCTAGGAATGTGACTACCCTACGTACTTCCTA TGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAATGTGACT ACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCA TCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACG GCA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0127 a0001c0001t0020g0127	1	130	0.0077	402	c.439 others(419): Show c.439-8778_439-8777insTGCCGTGCGGCTCCCCTCATAGGAAGTA CGTAGGGTAGTCACATTCCTAGGGATGGAAAAGGACAGACGCCGTGCGGC TCCCCTCATAGGAAGTACGTAGGGTAGTCACATTCCTAGGGATGGAAAAG GACAGACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACAT TCCTAGGGATGGAAAAGGACAGACGCCGTGCGGCTCCCCTCATAGGAAGT ACGTAGGGTAGTCACATTCCTAGGGACGGAACAGGACAGACGCCGTGCGG CTCCCCTCATAGGAAGTACGTAGGGTAGTCACGTTCCTAGGGATGGAAAA GGACAGACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACA TTCCTAGGGACGGAACAGGACAGA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	256071	T T	TTTCCGTC others(395): Show TTTCCGTCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAGC CGCATGGCGTCTGTCCTGTTCCATCCCTAGGAACGTGACTACCCTACGTA CTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAA TGTGACTACCCTACGTACTTCCTATGAGGGGAGCTGCACGGCGTCTGTCC TTTTCCATCCCTAGGAATATGACTACCCTACGTACTTCCTATGAGGGGAG CCGCATGGCGTCTGTCCTGTTCCATCCCTAGGAACGTGACTACCCTACGT ACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGA ACGTGACTACCCTACGTACTTCCTATGAGGGGAGCTGCACGGCGTCTGTC CTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	123	0.0081	402	c.439 others(419): Show c.439-8787_439-8786insCAGGACAGACGCCGTGCAGCTCCCCTCA TAGGAAGTACGTAGGGTAGTCACGTTCCTAGGGATGGAAAAGGACAGACG CCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACGTTCCTAGGG ATGGAACAGGACAGACGCCATGCGGCTCCCCTCATAGGAAGTACGTAGGG TAGTCATATTCCTAGGGATGGAAAAGGACAGACGCCGTGCAGCTCCCCTC ATAGGAAGTACGTAGGGTAGTCACATTCCTAGGGATGGAAAAGGACAGAC GCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACGTTCCTAGG GATGGAACAGGACAGACGCCATGCGGCTCCCCTCATAGGAAGTACGTAGG GTAGTCACATTCCTAGGGACGGAA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	256299	T T	TACGTACT others(395): Show TACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCC TAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCATGGCGT CTGTCCTGTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGA GGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACC CTACGTACTTCCTATGAGGGGAGCCGCATGGCGTCTGTCCTGTTCCATCC CTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCG TCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATG AGGGGAGCTGCACGGCGTCTGTCCTGTTCCATCCCTAGGAATGTGACTAC CCA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0078	1	132	0.0076	402	c.439 others(419): Show c.439-9015_439-9014insTGGGTAGTCACATTCCTAGGGATGGAAC AGGACAGACGCCGTGCAGCTCCCCTCATAGGAAGTACGTAGGGTAGTCAC GTTCCTAGGGATGGAAAAGGACAGACGCCGTGCGGCTCCCCTCATAGGAA GTACGTAGGGTAGTCACGTTCCTAGGGATGGAACAGGACAGACGCCATGC GGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACGTTCCTAGGGATGGAA AAGGACAGACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCA CGTTCCTAGGGATGGAACAGGACAGACGCCATGCGGCTCCCCTCATAGGA AGTACGTAGGGTAGTCACGTTCCTAGGGATGGAAAAGGACAGACGCCGTG CGGCTCCCCTCATAGGAAGTACGT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	256329	C C	CGTCTGTC others(395): Show CGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTA TGAGGGGAGCTGCACGGTGTCTGTCCTTTTCCATCCCTAGGAATGTGACT ACCCTACGTACTTCCTATGAGGGGAGCCGCACGGTGTCTGTCCTGTTCTG TCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACG GCGTCTGTCCTTTTCCATCCCTAGGAATATGACTACCCTACGTACTTCCT ATGAGGGGAGCCGCACGGTGTCTGTCCTTTTCCATCCCTAGGAACGTGAC TACCCTACGTACTTCCTATGAGGGGAGCTGCACGGTGTCTGTCCTTTTCC ATCCCTAGGAACGTGACTACCCTACGTACTTCCTATAAGGGGAGCTGCAC GGT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0132 a0001c0001t0005g0132	1	127	0.0079	402	c.439 others(419): Show c.439-9045_439-9044insACCGTGCAGCTCCCCTTATAGGAAGTAC GTAGGGTAGTCACGTTCCTAGGGATGGAAAAGGACAGACACCGTGCAGCT CCCCTCATAGGAAGTACGTAGGGTAGTCACGTTCCTAGGGATGGAAAAGG ACAGACACCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCATATT CCTAGGGATGGAAAAGGACAGACGCCGTGCGGCTCCCCTCATAGGAAGTA CGTAGGGTAGTCACATTCCTAGGGACAGAACAGGACAGACACCGTGCGGC TCCCCTCATAGGAAGTACGTAGGGTAGTCACATTCCTAGGGATGGAAAAG GACAGACACCGTGCAGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACGT TCCTAGGGATGGAAAAGGACAGAC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	256837	C C	CGTACTTC others(395): Show CGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTA GGAACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCT GTCCTTTTCCATCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGG GGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCT ACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTGTTCTGTCCCT AGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTC TGTCCTTTTCCGTCCCTAGGAATGGGACTACCCTACGTACTTCCTATGAG GGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCC TAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0016 a0002c0011t0001g0016	1	132	0.0076	402	c.439 others(419): Show c.439-9553_439-9552insATAGGGTAGTCACGTTCCTAGGGATGGA AAAGGACAGACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTC CCATTCCTAGGGACGGAAAAGGACAGACGCCGTGCGGCTCCCCTCATAGG AAGTACGTAGGGTAGTCACATTCCTAGGGACAGAACAGGACAGACGCCGT GCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACGTTCCTAGGGATGG AAAAGGACAGACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGT CACATTCCTAGGGATGGAAAAGGACAGACGCCGTGCGGCTCCCCTCATAG GAAGTACGTAGGGTAGTCACGTTCCTAGGGATGGAAAAGGACAGACGCCG TGCGGCTCCCCTCATAGGAAGTAC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	257025	T T	TGTGACTA others(395): Show TGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCC TTTTCCATCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAG CCGCACGGCGTCTGTCCTTTTCCGTCCCTAGGAACGTGACTACCCTACGT ACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCGTCCCTAGGA ACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTC CTTTTCCGTCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGA GCCGCACGGCGTCTGTCCTTTTCCGTCCCTAGGAACGTGACTACCCTACG TACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCGTCCCTAGG AAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0018 a0001c0003t0018	a0001c0003t0018g0019 a0001c0003t0018g0019	1	71	0.0141	402	c.439 others(419): Show c.439-9741_439-9740insGTTCCTAGGGACGGAAAAGGACAGACGC CGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACGTTCCTAGGGA CGGAAAAGGACAGACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGT AGTCACGTTCCTAGGGACGGAAAAGGACAGACGCCGTGCGGCTCCCCTCA TAGGAAGTACGTAGGGTAGTCACGTTCCTAGGGACGGAAAAGGACAGACG CCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACGTTCCTAGGG ACGGAAAAGGACAGACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGG TAGTCACATTCCTAGGGATGGAAAAGGACAGACGCCGTGCGGCTCCCCTC ATAGGAAGTACGTAGGGTAGTCAC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	257148	G G	GTCCCTAG others(395): Show GTCCCTAGGAACGTGACTACCCTACGTACTTCCTATAAGGGGAGCTGCAC GGTGTCTGTCCTTTTCCGTCCCTAGGAATGTGACTACCCTACGTACTTCC TATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGA CTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTC CATCCCTAGGAACGTGACTACCCTACGTACTTCCTATAAGGGGAGCTGCA CGGTGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTC CTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTG ACTACCCTACGTACTTCCTATAAGGGGAGCTGCACGGTGTCTGTCCTTTT CCA	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0003 a0008c0010t0003	a0008c0010t0003g0084 a0008c0010t0003g0084	1	58	0.0172	402	c.439 others(419): Show c.439-9864_439-9863insTGGAAAAGGACAGACACCGTGCAGCTCC CCTTATAGGAAGTACGTAGGGTAGTCACGTTCCTAGGGATGGAAAAGGAC AGACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACGTTCC TAGGGATGGAAAAGGACAGACACCGTGCAGCTCCCCTTATAGGAAGTACG TAGGGTAGTCACGTTCCTAGGGATGGAAAAGGACAGACGCCGTGCGGCTC CCCTCATAGGAAGTACGTAGGGTAGTCACGTTCCTAGGGATGGAAAAGGA CAGACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACATTC CTAGGGACGGAAAAGGACAGACACCGTGCAGCTCCCCTTATAGGAAGTAC GTAGGGTAGTCACGTTCCTAGGGA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	257679	T T	TTTCCATC others(395): Show TTTCCATCCCTAGGAATGTGACTACCCTACGCACTTCCTATGAGGGGAGC CGCACGGCGTCTGTCCTGTTCCGTCCCTAGGAACGTGACTACCCTACGTA CTTCCTATGAGGGGAGTCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAA CGTGACTACCCTACGTACTTCCTATGAGGGGAGTCGCACGGCGTCTGTCC TTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAG TCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACGT ACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGA ACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTC CTG	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0055 a0001c0001t0013g0055	1	132	0.0076	402	c.439 others(421): Show c.439-10395_439-10394insCAGGACAGACGCCGTGCGGCTCCCCT CATAGGAAGTACGTAGGGTAGTCACGTTCCTAGGGATGGAAAAGGACAGA CGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACGTTCCTAG GGATGGAAAAGGACAGACGCCGTGCGACTCCCCTCATAGGAAGTACGTAG GGTAGTCACGTTCCTAGGGATGGAAAAGGACAGACGCCGTGCGACTCCCC TCATAGGAAGTACGTAGGGTAGTCACGTTCCTAGGGATGGAAAAGGACAG ACGCCGTGCGACTCCCCTCATAGGAAGTACGTAGGGTAGTCACGTTCCTA GGGACGGAACAGGACAGACGCCGTGCGGCTCCCCTCATAGGAAGTGCGTA GGGTAGTCACATTCCTAGGGATGGAA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	287743	T T	TCTCTCTC others(395): Show TCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGTCAGACCTC GCACCCTCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGTCA GACCTCGCACCCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACC GTCAGACCTCGCACCCTCTCTCTCCACCGTCAGACCTCACACCCTCTCTC CACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGACCTCGCACCCTCTC TCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGACCTCGCACCCTC TCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGTCAGACCTCGCAC CCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGACCTCGC ACC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	132	0.0076	402	c.352 others(419): Show c.352-5890_352-5889insGGTGCGAGGTCTGACGGTGGAGAGAGGG TGCGAGGTCTGACGGTGGAGAGAGGGTGCGAGGTCTGACGGTGGAGAGAG AGGGTGCGAGGTCTGACGGTGGAGAGAGGGTGCGAGGTCTGACGGTGGAG AGAGGGTGCGAGGTCTGACGGTGGAGAGAGGGTGCGAGGTCTGACGGTGG AGAGAGGGTGCGAGGTCTGACGGTGGAGAGAGGGTGTGAGGTCTGACGGT GGAGAGAGAGGGTGCGAGGTCTGACGGTGGAGAGAGAGGGTGCGAGGTCT GACGGTGGAGAGAGGGTGCGAGGTCTGACGGTGGAGAGAGAGGGTGCGAG GTCTGACGGTGGAGAGAGAGGGTGCGAGGTCTGACGGTGGAGAGAGAGGG TGCGAGGTCTGACGGTGGAGAGAG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPTOR_chr17_80539838_80971368	80700730	A A	ATGATAGA others(395): Show ATGATAGAGATGGTGATGGTGGTGATGATGATGGTCGTGGTGATGGTGGT GGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTAGAGATGATGG TGATGGTGATGATGGAGGTGATGGTGGTGATGGTGATGGTGGTGGTGGTG GTGATGATGGTGATGGTGATGGTAGAGATGATGGTGATGATGGAGGTGGT GGTGATGGTGATGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGATGA TGGTGACGGTGATGGTAGAGATGATAGTGATAGTGGTGGTGATGATGGTG GTGATGGTGGTGGTGGTGATGATGGTGATGGTAGAGATGGTGGTGGTGGT GGTGGTGGTGATGATGGTGACGGTGATGGTAGAGATGATGGTGGTGGTGG TGG	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0130 a0001c0022t0001g0130	1	8	0.1250	402	c.349 others(419): Show c.349-7107_349-7106insAGAGATGGTGATGGTGGTGATGATGATG GTCGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGT GATGGTAGAGATGATGGTGATGGTGATGATGGAGGTGATGGTGGTGATGG TGATGGTGGTGGTGGTGGTGATGATGGTGATGGTGATGGTAGAGATGATG GTGATGATGGAGGTGGTGGTGATGGTGATGGTGGTGGTGATGGTGATGGT GGTGGTGGTGGTGATGATGGTGACGGTGATGGTAGAGATGATAGTGATAG TGGTGGTGATGATGGTGGTGATGGTGGTGGTGGTGATGATGGTGATGGTA GAGATGGTGGTGGTGGTGGTGGTGGTGATGATGGTGACGGTGATGGTAGA GATGATGGTGGTGGTGGTGGTGAT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
SAMD11_chr1_918923_949574	934263	G G	GGCGGCTG others(395): Show GGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGC GGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGCGGCTGCGTTACAGGTG GGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTA CAGGTGGGCGGGGGGGGCGGCTCCGTTACAGGTGGGCAGGGGCGGCTGCG TTACAGGTGGGCAGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCT GCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGG GCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCG GGGGGGGCGGCTCCGTTACAGGTGGGCAGGGGCGGCTGCGTTACAGGTGG GCA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0234 a0002c0003t0004g0234	1	431	0.0023	402	c.843 others(419): Show c.843-1508_843-1507insCGGCTGCGTTACAGGTGGGCGGGGGGGG CGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGG GGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGG CGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTCCGTTACA GGTGGGCAGGGGCGGCTGCGTTACAGGTGGGCAGGGGCGGCTGCGTTACA GGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGC GTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGC GGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTCCGTTACAGGTGGGCAGG GGCGGCTGCGTTACAGGTGGGCAG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SATL1_chrX_85087284_85248779	85088071	C C	CGTATTTA others(395): Show CGTATTTATACATATATGTATAAATACGTATTTATGTATAAATACGTATT TATACATATATGTATAAATACGTATTTATACATATATGTATAAATACGTA TTAATACATATATGTATAAATACGTATTAATACATATATGTATAAATACA TACATATTTATACATATATGTATACATACATATTTATACATATATATGTA TAAATACATATTTATACATATATATGTATAAATACATACATATTTATACA TATATATGTATAAATACATACATATTTATACATATATATGTATAAATACA TACATATTTATACATATATATGTATAAATACATACATATTTATACATATA TATGTATAAATACATACATATTTATACATATATGTATAAATACATATACA TAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	204	0.0049	402	c.43 others(413): Show c.4319_*4320insATATGTATATGTATTTATACATATATGTATAAAT ATGTATGTATTTATACATATATATGTATAAATATGTATGTATTTATACAT ATATATGTATAAATATGTATGTATTTATACATATATATGTATAAATATGT ATGTATTTATACATATATATGTATAAATATGTATGTATTTATACATATAT ATGTATAAATATGTATTTATACATATATATGTATAAATATGTATGTATAC ATATATGTATAAATATGTATGTATTTATACATATATGTATTAATACGTAT TTATACATATATGTATTAATACGTATTTATACATATATGTATAAATACGT ATTTATACATATATGTATAAATACGTATTTATACATAAATACGTATTTAT ACATATATGTATAAATAC	SATL1	ENSG00000184788.14	transcript	ENST00000644105.2	protein_coding		4212		chrX	TogoVar
SCNN1D_chr1_1275436_1297025	1288327	T T	TCCCGTGT others(395): Show TCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCT CTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTGCTCCG TCC	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0208 a0001c0001t0002g0208	1	281	0.0036	402	c.166 others(419): Show c.1662+303_1662+304insTCCGTCCCGTGTCCCTGCTCCGTCCCGT GTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTC CCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTGCTCCGTCCCCCGTGTCTCTGC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289575	T T	TCCGTCCC others(395): Show TCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGT GTCCCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCC CCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCT GCC	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0016 a0002c0003t0002g0016	1	232	0.0043	402	c.166 others(419): Show c.1663-689_1663-688insCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCTCCGTCCCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCC CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGT CTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCCCCG TCCCCCGTGTCTCTGCCCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289747	C C	CCGTGTCT others(395): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTGCTCCG TCCCCCGTGTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCCCGTGTCTCTGCCCTG TCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCTCT GCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTC CCGTGTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCCCGTGTCTCTGCTC CAT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0170 a0003c0004t0003g0170	1	267	0.0037	402	c.166 others(419): Show c.1663-523_1663-522insGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCCCGTGTCT CTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCTGCTCCGTCCCCCGTGTCTGCTCCG TCCCCCGTGTCTCTGCCCTGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCC CTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTGCTCCGTC CCCCGTGTCTCTGCTCCGTCCCGTGTCTGCTCCGTCCCCCGTGTCTGCTC CGTCCCCCGTGTCTCTGCTCCATC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289922	C C	CCCGTCCC others(395): Show CCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCC GTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCT GCT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0036 a0001c0036	a0001c0036t0006 a0001c0036t0006	a0001c0036t0006g0122 a0001c0036t0006g0122	1	156	0.0064	402	c.166 others(419): Show c.1663-342_1663-341insGTGTCTCTGCCCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCC CGTCCCGTGTCTCTGCTCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1290090	T T	TCCCGTGT others(395): Show TCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCC GTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCG TCC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0110 a0002c0003t0004g0110	1	253	0.0040	402	c.166 others(419): Show c.1663-168_1663-167insCCCGTCCCGTGTCTCTGCTCCGTCCCCC GTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCT CTGCCCCGTCCCCCGTGTCTCTGC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERPINF2_chr17_1737871_1760265	1739225	G G	GCCTGATG others(395): Show GCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTG ATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGTGGCCTGATGCA GGGAGTGAGGAGCAGGTGTGAGGGCGGGAAGCGGCCTGATGCAGGGAGTG AGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCG CAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGA CAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTG AGGGTGGGAAGTGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGT GGGAGGCGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAA GGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02486.hp2 HG02895.hp1 others(2): Show HG02055.hp2 HG02486.hp2 HG02895.hp1 HG03579.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0001 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0017 a0001c0001t0003g0115 a0001c0001t0005g0039 a0001c0001t0001g0017 a0001c0001t0003g0115 a0001c0001t0005g0039	5	298	0.0168	402	c.-36 others(413): Show c.-3688_-3687insCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGG GTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGG AAGTGGCCTGATGCAGGGAGTGAGGAGCAGGTGTGAGGGCGGGAAGCGGC CTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGAT GCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGG GAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTG AGGAGCAGGACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGAGTGAGGCG CAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGCGCAGGA CAGTGAGGGTGGGAAGGA	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		3645		chr17	TogoVar
SHC2_chr19_411589_466033	431266	T T	TAGATGGC others(395): Show TAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATAGAGGAGGC TGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGTTA GAGGAGGCGGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGT GAGAGTTAGAGGAGGCCGGGCAGATAGATGGCGCTTCATCGTGAGTGAGA TCGTGAGTGAGAGTTAGAGGAGGCGGGGCAGATAGATGGCGCTTCATCGT GAGTGAGATCGTGAGTGAGAGTTAGAGGAGGCGGGGCAGATAGATGGCGC TTCATCGTGAGTGAGATCGTGAGTGAGAGTTAGAGGAGGCCGGGCAGATA GATGGCACTTCATCGTGAGTGAGATCGTGAGTGAGAGATAGAGGAGGCTG GGC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0077 a0001c0007t0002g0077	1	210	0.0048	402	c.111 others(419): Show c.1111-520_1111-519insGCCCAGCCTCCTCTATCTCTCACTCACG ATCTCACTCACGATGAAGTGCCATCTATCTGCCCGGCCTCCTCTAACTCT CACTCACGATCTCACTCACGATGAAGCGCCATCTATCTGCCCCGCCTCCT CTAACTCTCACTCACGATCTCACTCACGATGAAGCGCCATCTATCTGCCC CGCCTCCTCTAACTCTCACTCACGATCTCACTCACGATGAAGCGCCATCT ATCTGCCCGGCCTCCTCTAACTCTCACTCACGATCTCACTCACGATGAAG CGCCATCTATCTGCCCCGCCTCCTCTAACTCTCACTCACGATCTCACTCA CGATGAAGCGCCATCTATCTGCCCAGCCTCCTCTATCTCTCACTCACGAT CTCACTCACGATGAAGCGCCATCT	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SIGIRR_chr11_400716_419999	401566	G G	GCCCCGCT others(395): Show GCCCCGCTCACCCCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCC CGCTCACACCCGCCCCGCTCACACCCGGCCCGCTCACACCCGCCCCGCTC ACCCCCGGCCCCGCTCACACCCGCCCGCTCACACCCGGCCCCGCTCACAC CCGCCCCGCTCACACCCGGCCCCGCTCACGCTCACACCCGCCCGCTCACA CCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCC GACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTCACACCCGCCC CGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGCCCCGCTC ACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACA CCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	216	0.0046	402	c.43 others(413): Show c.4329_*4330insGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGG GGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGCCGGGGGTG AGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGTGAGCGG GGCCGGGGGTGAGCGGGTCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGC GGGTGTGAGCGGGGCCGGGTGTGAGCGGGCGGGTGTGAGCGTGAGCGGGG CCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGCGGG TGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGCCGGGTGTG AGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGAGCG GGGCGGGGGTGAGCGGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4149		chr11	TogoVar
SLC12A7_chr5_1045384_1117063	1073173	G G	GAGCCCCC others(395): Show GAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCA GCACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGC ATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACT TATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGC CCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCCAGTGAG CCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCA CACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCA TCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTA TGC	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0004 a0001c0017t0004	a0001c0017t0004g0020 a0001c0017t0004g0020	1	98	0.0102	402	c.224 others(419): Show c.2241+459_2241+460insGCATAAGTGTGATGCCCGTGTGCTGGGG GCTCACTGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGG GGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGGGCTGCAT AAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGGGGCTGCATAAGTGTGA TGCCGTGTGCTGGGGGCTCACTGGGGCTGCATAAGTGTGATGCCCGTGTG CTGGGGGCTCACTGGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGC TCACTGGGGGCTGCATAAGTGTGATGCCGTGTGCTGGGGGCTCACTGGGG CTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGGGGCTGCATAA GTGTGATGCCGTGTGCTGGGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1098513	G G	GCCCCCCT others(395): Show GCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCTTCTAACCCTCTGCACA CCCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCCTCTAACCCTCTG CACGCCCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCCTCTAACCC TCTGCACGCCCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCCTCTA ACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCC TCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCTCACCCAGCC CCCCTCTAACCGTCTGCACGCCCAGCCCCCCTCTAACCCTCTGCTCACCC AGCCCCCCTAACCCTCTGCTCACCCAGCCCCCCTCTAACCCTCTGCACAC CCA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0009	a0001c0005t0009g0004 a0001c0005t0009g0004	1	101	0.0099	402	c.125 others(419): Show c.125-4266_125-4265insTGGGTGTGCAGAGGGTTAGAGGGGGGCT GGGTGAGCAGAGGGTTAGGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGG CTGGGCGTGCAGACGGTTAGAGGGGGGCTGGGTGAGCAGAGGGTTAGAGG GGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTA GAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGAGCAGAGG GTTAGAGGGGGGCTGGGCGTGCAGAGGGTTAGAGGGGGGCTGGGTGAGCA GAGGGTTAGAGGGGGGCTGGGCGTGCAGAGGGTTAGAGGGGGGCTGGGTG AGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAAGGGGGCTG GGTGAGCAGAGGGTTAGAGGGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SLC22A23_chr6_3263973_3462050	3356090	C C	CGGGGGGC others(395): Show CGGGGGGCGCGGGAGGGGGAGGAGGCGGGGGGGCGGCAGGGGGGAGGCGG GGGGGCGGGAGGGGAGGAGGCGGGGAGGCGGGAGGGGGAGGAGGCGGGGA GGCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGG CGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGCGGG AGGGGGCCGGAGGGGGAGGAGGCGGGGGGGGCGGGGGGGCGGGAGGGGCG GGAGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGG GGGCGGGAGGGGAAGGAGGCGGGGGGGGCGGGGGGGAGGGAGGGGAAGGA GGCGGGGGGGGCGGGAGGGGGAGGACGCGGGGGGGGCGGGGGGGGGCGGG AGG	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0017 a0001c0002t0017g0017	1	25	0.0400	402	c.914 others(421): Show c.914-32089_914-32088insCCTCCCGCCCCCCCCCGCCCCCCCCG CGTCCTCCCCCTCCCGCCCCCCCCGCCTCCTTCCCCTCCCTCCCCCCCGC CCCCCCCGCCTCCTTCCCCTCCCGCCCCCCCGCCTCCCCCCTCCCGCCCC CCCGCCTCCTCCCCCTCCCGCCCCTCCCGCCCCTCCCGCCCCCCCGCCCC CCCCGCCTCCTCCCCCTCCGGCCCCCTCCCGCCCCCCCGCCTCCCCCCTC CCGCCCCCCCGCCTCCTCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTCCC GCCCCCCCGCCTCCTCCCCCTCCCGCCTCCCCGCCTCCTCCCCCTCCCGC CTCCCCGCCTCCTCCCCTCCCGCCCCCCCGCCTCCCCCCTGCCGCCCCCC CGCCTCCTCCCCCTCCCGCGCCCCCC	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	3/9			chr6	TogoVar
SLC22A23_chr6_3263973_3462050	3356090	C C	CGGGGGGC others(395): Show CGGGGGGCGCGGGAGGGGGAGGAGGCGGGGGGGCGGCAGGGGGGAGGCGG GGGGGCGGGAGGGGAGGAGGCGGGGAGGCGGGAGGGGGAGGAGGCGGGGA GGCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGG CGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGCGGG AGGGGGCCGGAGGGGGAGGAGGCGGGGGGGGCGGGGGGGCGGGAGGGGCG GGAGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGG GGGCGGGAGGGGAAGGAGGCGGGGGGGGCGGGGGGGAGGGAGGGGAAGGA GGCGGGGGGGGGCGGGAGGGGGAGGACGCGGGGGGGGCGGGGGGGGCGGG AGG	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0075 a0001c0002t0002g0075	1	25	0.0400	402	c.914 others(421): Show c.914-32089_914-32088insCCTCCCGCCCCCCCCGCCCCCCCCGC GTCCTCCCCCTCCCGCCCCCCCCCGCCTCCTTCCCCTCCCTCCCCCCCGC CCCCCCCGCCTCCTTCCCCTCCCGCCCCCCCGCCTCCCCCCTCCCGCCCC CCCGCCTCCTCCCCCTCCCGCCCCTCCCGCCCCTCCCGCCCCCCCGCCCC CCCCGCCTCCTCCCCCTCCGGCCCCCTCCCGCCCCCCCGCCTCCCCCCTC CCGCCCCCCCGCCTCCTCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTCCC GCCCCCCCGCCTCCTCCCCCTCCCGCCTCCCCGCCTCCTCCCCCTCCCGC CTCCCCGCCTCCTCCCCTCCCGCCCCCCCGCCTCCCCCCTGCCGCCCCCC CGCCTCCTCCCCCTCCCGCGCCCCCC	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	3/9			chr6	TogoVar
SLC22A23_chr6_3263973_3462050	3356090	C C	CGGGGGGC others(395): Show CGGGGGGCGCGGGAGGGGGAGGAGGCGGGGGGGCGGCAGGGGGGAGGCGG GGGGGCGGGAGGGGAGGAGGCGGGGAGGCGGGAGGGGGAGGAGGCGGGGA GGCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGG CGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGCGGG AGGGGGCCGGAGGGGGAGGAGGCGGGGGGGGCGGGGGGGGCGGGAGGGGC GGGAGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGG GGGGCGGGAGGGGAAGGAGGCGGGGGGGGCGGGGGGGAGGGAGGGGAAGG AGGCGGGGGGGGCGGGAGGGGGAGGACGCGGGGGGGGCGGGGGGGGCGGG AGG	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0116 a0001c0002t0008g0116	1	25	0.0400	402	c.914 others(421): Show c.914-32089_914-32088insCCTCCCGCCCCCCCCGCCCCCCCCGC GTCCTCCCCCTCCCGCCCCCCCCGCCTCCTTCCCCTCCCTCCCCCCCGCC CCCCCCGCCTCCTTCCCCTCCCGCCCCCCCGCCTCCCCCCTCCCGCCCCC CCGCCTCCTCCCCCTCCCGCCCCTCCCGCCCCTCCCGCCCCCCCCGCCCC CCCCGCCTCCTCCCCCTCCGGCCCCCTCCCGCCCCCCCGCCTCCCCCCTC CCGCCCCCCCGCCTCCTCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTCCC GCCCCCCCGCCTCCTCCCCCTCCCGCCTCCCCGCCTCCTCCCCCTCCCGC CTCCCCGCCTCCTCCCCTCCCGCCCCCCCGCCTCCCCCCTGCCGCCCCCC CGCCTCCTCCCCCTCCCGCGCCCCCC	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	3/9			chr6	TogoVar
SLC24A3_chr20_19207642_19727926	19663437	C C	CTCCTCCA others(395): Show CTCCTCCACTTCCTCCTCCACCTCCTCCTCTACCTCCTCCACCTCCTCCT CCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCC TCCACCTCCTCCTCCTCCTCTACCTCCTGCACCTCCTCCTCCTCCTCCAC CTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCA CCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACC TCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTC CACCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCA CCTCCTCCTCCTCCACCTCCTCCTCCACCTCCACCTCCACCTCCTCCTCC ACT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0058 a0001c0003t0001g0058	1	89	0.0112	402	c.688 others(419): Show c.688-2426_688-2425insCCTCCACTTCCTCCTCCACCTCCTCCTC TACCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCT CCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCTACCTCCTGC ACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTC CTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCA CCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCC TCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCACCTCCTCCTCCTCCTC CACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCACCT CCACCTCCACCTCCTCCTCCACTT	SLC24A3	ENSG00000185052.13	transcript	ENST00000328041.11	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC8A1_chr2_40092270_40457090	40200222	T T	TTATATAT others(395): Show TTATATATATATATAAATATATATATATATTTATATATATATATAAATAT ATATATATATTTATATATATATATAAATATATATATATATTTATATATAT ATATAAATATATATATATATTTATATATATATAAATATATATATATATTT ATATATATATATAAATATATATATATTTATATATATATATAAATATATAT ATATATTTATATATATATAAATATATATATATATTTATATATATATATAA ATATATATATATTTATATATATATATAAATATATATATATTTATATATAT ATAAATATATATATATATTTATATATATATATAAATATATATATATATTT ATATATATATATAAATATATATATATTTTTTTATATATATATATAAATAT ATA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0066 a0001c0001t0020g0066	1	140	0.0071	402	c.180 others(423): Show c.1809-21730_1809-21729insTATATATTTATATATATATATAAA AAAATATATATATATTTATATATATATATAAATATATATATATATTTATA TATATATATAAATATATATATATATTTATATATATATAAATATATATATA TTTATATATATATATAAATATATATATATTTATATATATATATAAATATA TATATATATTTATATATATATAAATATATATATATATTTATATATATATA TAAATATATATATATTTATATATATATATAAATATATATATATATTTATA TATATATAAATATATATATATATTTATATATATATATAAATATATATATA TATTTATATATATATATAAATATATATATATATTTATATATATATATAAA TATATATATATATTTATATATATATATA	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	2/10			chr2	TogoVar
SLC9A3_chr5_465456_529449	474212	C C	CGGTCCAG others(395): Show CGGTCCAGGGAGGAGAGAGACAGCGCGCGCGAGGCGGAGACCTGGAGGAG AGGAGCTGCGGAGAGGGGTTAGGCGGGGAGAGAGAGAGAGCGAGCCAGGT TCAGGTCCAGGGAGGAGAGAGACAGCGCGCGCGAGGCGGAGACCTGGAGG GAGAGGAGCTGCGGAGAGGGGTTAGGCGGGGAGGGAGAGAGAGAACCAGG TTCAGGTCCAGGGAGGAGAGAGACAGCGCGCGCGAGGCGGAGACCTGGAG GAGAGGAGCTGCGGAGAGGGGTTAGGCGGGGAGAGAGAGAGAGCGAGCCA GGTTCAGGTCCAGGGAGGAGAGAGACAGCGCGCGCGAGGCGGAGACCTGG AGGGAGAGGAGCTGCGGAGAGGGGTTAGGCGGGGAGGGAGAGAGCCAGGT TCA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0029 a0002c0029	a0002c0029t0002 a0002c0029t0002	a0002c0029t0002g0108 a0002c0029t0002g0108	1	73	0.0137	402	c.250 others(419): Show c.2501+269_2501+670dupTGAACCTGGCTCTCTCCCTCCCCGCCTA ACCCCTCTCCGCAGCTCCTCTCCCTCCAGGTCTCCGCCTCGCGCGCGCTG TCTCTCTCCTCCCTGGACCTGAACCTGGCTCGCTCTCTCTCTCTCCCCGC CTAACCCCTCTCCGCAGCTCCTCTCCTCCAGGTCTCCGCCTCGCGCGCGC TGTCTCTCTCCTCCCTGGACCTGAACCTGGTTCTCTCTCTCCCTCCCCGC CTAACCCCTCTCCGCAGCTCCTCTCCCTCCAGGTCTCCGCCTCGCGCGCG CTGTCTCTCTCCTCCCTGGACCTGAACCTGGCTCGCTCTCTCTCTCTCCC CGCCTAACCCCTCTCCGCAGCTCCTCTCCTCCAGGTCTCCGCCTCGCGCG CGCTGTCTCTCTCCTCCCTGGACC	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	16/16			chr5	TogoVar
SLCO3A1_chr15_91848708_92170903	92143358	C C	CATATATA others(395): Show CATATATATATTATATAATATATATATAAAATATATATATATTATATAAT ATATATATAAAATATATATATATTATATAATATATATATAAAATATATAT ATATTATATATAAAATATATATATTATATAATATATATATAAAATATATA TATTATATAATATATATATAAAATATATATATTATATAATATATATATAA AATATATATATTATATAATATATGTAATATTATATATAATATATATATTA TATATATTATATATTATATATATTATATATATTATATATAATATATATTA TATATTATATATATTATATATATTATATATAATATATTATATATAATATA TATAATATATATAATATATATATTATATATAATATATATAATATATATAA AAA	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02683.hp2 HG04199.hp1 others(1): Show HG02132.hp1 HG02683.hp2 HG04199.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0002 a0001c0007t0002 a0001c0001t0002 a0001c0007t0002	a0001c0001t0002g0074 a0001c0001t0002g0082 a0001c0001t0002g0088 others(1): Show a0001c0001t0002g0074 a0001c0001t0002g0082 a0001c0001t0002g0088 a0001c0007t0002g0148	4	28	0.1429	402	c.151 others(421): Show c.1513-3601_1513-3600insTAAAATATATATATATTATATAATAT ATATATAAAATATATATATATTATATAATATATATATAAAATATATATAT ATTATATATAAAATATATATATTATATAATATATATATAAAATATATATA TTATATAATATATATATAAAATATATATATTATATAATATATATATAAAA TATATATATTATATAATATATGTAATATTATATATAATATATATATTATA TATATTATATATTATATATATTATATATATTATATATAATATATATTATA TATTATATATATTATATATATTATATATAATATATTATATATAATATATA TAATATATATAATATATATATTATATATAATATATATAATATATATAAAA AATATATATATTATATAATATATATA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr15	TogoVar

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