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
MYNN_chr3_169768396_169794716	169771186	A A	TTTATATT others(365): Show TTTATATTTATATATCATAAATATATAAAAATTTATATTTATATATCATA AATATATAAAAATTTATATTTATATATCATAAATATATAAAAATTTATAT TTATATATCATAAATATATAAAAATTTATATTTATATATCATAAATATAT AAAAATTTATATTTATATATCATAAATATATAAAAATTTATATTTATATA TCATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAAATT TATATTTATATATCATAAATATATAAAAATTTATATTTATATATCATAAA TATATAAAAATTTATATTTATATATCATAAATATATAAAAATTTATATTT ATATATCATAAATATATAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	350	0.0029	372	c.-23 others(383): Show c.-2309_-2308insTTTATATTTATATATCATAAATATATAAAAATTT ATATTTATATATCATAAATATATAAAAATTTATATTTATATATCATAAAT ATATAAAAATTTATATTTATATATCATAAATATATAAAAATTTATATTTA TATATCATAAATATATAAAAATTTATATTTATATATCATAAATATATAAA AATTTATATTTATATATCATAAATATATAAAAATTTATATTTATATATCA TAAATATATAAAAATTTATATTTATATATCATAAATATATAAAAATTTAT ATTTATATATCATAAATATATAAAAATTTATATTTATATATCATAAATAT ATAAAAATTTATATTTATATATCATAAATATATAAAAA	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2210		chr3	TogoVar
MYO1F_chr19_8515778_8582442	8543684	G G	GTGGTGGT others(365): Show GTGGTGGTGCTGGTGGTGCTGGTGGTGGTGGTGGTGGTGCTGGTGGTGGT GGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGCTGGTGGTGG TGGTGGTGCTGGTGGTGCTGGTGGTGGTGGTGGTGGTGCTGGTGGTGGTG GTGGTGGTGGTGGTGGTGCTGGTGGTGGTGGTGGTGGTGGTGGTGGTGCT GGTGGTGGTGCTGGTGGTGCTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG TGGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGCTGGTGGTGGTGGTGGTG GTGCTGGTGGTGGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGGTGGTGGT GGTGCTGGTGGTGGTGGTGGTGC	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0218 a0001c0001t0004g0218	1	342	0.0029	372	c.152 others(389): Show c.1524+612_1524+613insGCACCACCACCACCACCAGCACCACCAC CACCACCACCAGCACCACCACCACCACCACCACCACCACCAGCACCACCA CCACCACCACCAGCACCACCAGCACCACCACCACCACCACCACCACCACC ACCACCACCACCACCACCACCACCAGCACCACCAGCACCACCACCAGCAC CACCACCACCACCACCACCACCACCAGCACCACCACCACCACCACCACCA CCACCAGCACCACCACCACCACCACCAGCACCACCAGCACCACCACCACC ACCAGCACCACCAGCACCACCACCACCACCACCACCACCACCACCACCAC CACCAGCACCACCACCACCACCACCAGCACCACCAGCACCACCA	MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	14/27			chr19	TogoVar
MYOM2_chr8_2040046_2150456	2086477	C C	CGTGATCT others(365): Show CGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTGCGTGGCCCCCCA CAGTCGTGATCTCTGCGTGGCCCCCCACTGTCGTGATCTCCGCGTGGCCC CCCACTGTCGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTGCGTG GCCTCCCACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCCG CGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACAGTCGTGATC TCTGCGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCACTGTCATGA TCTCTGGCACCCCACTGTCGTGATCTCCGCGTGGCCCCCCACAGTCGTGA TCTCTGCGTGGCCTCCCACTGTT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0074 a0074	a0074c0063 a0074c0063	a0074c0063t0001 a0074c0063t0001	a0074c0063t0001g0205 a0074c0063t0001g0205	1	403	0.0025	372	c.164 others(391): Show c.1644+1087_1644+1088insGTGATCTCTGCGTGGCCCCCCACAGT CGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTGCGTGGCCCCCCA CTGTCGTGATCTCCGCGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCC CCCACAGTCGTGATCTCTGCGTGGCCTCCCACTGTTGTGATCTCTGCGTG GCCCCCCACAGTCGTGATCTCCGCGTGGCCCCCCACTGTCGTGATCTCTG CGTGGCCCCCCACAGTCGTGATCTCTGCGTGGCCCCCCACTGTTGTGATC TCTGCGTGGCCCCACTGTCATGATCTCTGGCACCCCACTGTCGTGATCTC CGCGTGGCCCCCCACAGTCGTGATCTCTGCGTGGCCTCCCACTGTT	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36			chr8	TogoVar
MYRIP_chr3_39804609_40265321	40084638	T T	TCTATCGA others(365): Show TCTATCGATAGATAATACACATCTATGTATTATATATCGATAATACACAT CTATGTATTATATATCGATAATACACATCTATGTATTATATATCGATAAT ACACATCTATGTATTATATATCGATAGATAATACACATCTATGTATTATA TATCGATAGATAATACACATCTATGTATTATATATCGATAGATAATACAC ATCTATGTATTATATATCGATAGATAATACACATCTATGTATTATATATC GATAGATAATACACATCTATGTATTATATATCGATAGATAATACACATCT ATGTATTATATATCGATAGATAATACACATCTATGTATTATATATCGATA GATAATACACATCTATGTATTAC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0006 a0002c0012t0006	a0002c0012t0006g0091 a0002c0012t0006g0091	1	170	0.0059	372	c.332 others(391): Show c.332+40367_332+40368insCTATCGATAGATAATACACATCTATG TATTATATATCGATAATACACATCTATGTATTATATATCGATAATACACA TCTATGTATTATATATCGATAATACACATCTATGTATTATATATCGATAG ATAATACACATCTATGTATTATATATCGATAGATAATACACATCTATGTA TTATATATCGATAGATAATACACATCTATGTATTATATATCGATAGATAA TACACATCTATGTATTATATATCGATAGATAATACACATCTATGTATTAT ATATCGATAGATAATACACATCTATGTATTATATATCGATAGATAATACA CATCTATGTATTATATATCGATAGATAATACACATCTATGTATTAC	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	3/16			chr3	TogoVar
NHLRC4_chr16_562005_574495	571086	T T	TGTCTGCC others(365): Show TGTCTGCCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTG TCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTG TCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTG TGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTG TATGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTG TGTGTGTGTGGGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCC TGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTG TGTGTGTGGCTAGCCTGGCGCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	424	0.0024	372	c.26 others(383): Show c.2667_*2668insGTCTGCCTAGCCTGTGTGTGTGTGTCTGGCTAGC CTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCT GTGTGTGTGTGTGTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGT GTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGT GCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCT AGCCTGGTGCCCGTGTGTGTGTGTGGGGGGGGGGGCTAGCCTTGTGTGTG TGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTG GCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCC	NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding		1592		chr16	TogoVar
NOC4L_chr12_132139457_132157468	132148960	C C	CACACCAC others(365): Show CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCTCGCTCACACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCTCGCTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTG AGTGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCC TCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTC CTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCA CACCCCTAATCCCCTCGGTGAGTGCCGCCTCGCTCACACCACACCCCTAA TCCCCTCGGTGAGTGCCGCCTCG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0054 a0001c0004t0001g0054	1	294	0.0034	372	c.901 others(385): Show c.901+65_901+66insACACCACACCCCTAATCCCCTCGGTGAGTGCC GCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCTCGCTC ACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCTCGCTCACACCACAC CCCTAATCCCCTCGGTGAGTGCCGCCTCGCTCACACCACACCCCTAATCC CCTCGGTGAGTGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGA GTGCCGCCGCCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCG CCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCTCGC TCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCTCG	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14			chr12	TogoVar
NOP14_chr4_2932936_2968406	2961226	T T	TGTTAGTA others(365): Show TGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATAT TAATATATAGTAACTATATTAATATATACTAACTATATTAATAATATAGT TAGTATATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATT AATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTA ACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAAT AATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAG TATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATAT ATAGTAACTATATTAATAATATA	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0015 a0015	a0015c0013 a0015c0013	a0015c0013t0001 a0015c0013t0001	a0015c0013t0001g0315 a0015c0013t0001g0315	1	422	0.0024	372	c.195 others(389): Show c.195+1898_195+1899insTATATTATTAATATAGTTACTATATATT AATATACTAACTATATTATTAATATAGTTACTATATATTAATATACTAAC TATATTATTAATATAGTTACTATATATTAATATACTAACTATATTATTAA TATAGTTACTATATATTAATATACTAACTATATTATTAATATAGTTACTA TATATTAATATACTAACTATATTATTAATATAGTTACTATATATTAATAT ACTAACTATATTATTAATATAGTTACTATATATTAATATATACTAACTAT ATTATTAATATAGTTAGTATATATTAATATAGTTACTATATATTAATATA CTAACTATATTATTAATATAGTTACTATATATTAATATACTAAC	NOP14	ENSG00000087269.16	transcript	ENST00000416614.7	protein_coding	1/17			chr4	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCCCC others(365): Show TCCTCCCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCACCCTCCCCCCCTCCCCTTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCC CCTCCCCCTTCCCCTCCCCCCTCCCCTCCCCCTTCCCCTTCCCTCTCCCC TTCCCCTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTTC CCTCTCCCCTTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	326	0.0031	372	c.433 others(389): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGA GAGGGAAGGGGAAGGGGGAGGGGAGGGGGGAGGGGAAGGGGGAGGGGAGG GGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAAGGGGAGGGGGGGAGGGTGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGGGAGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(365): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTTCCCCTCCCCTCCCCTTCCCCTCCCCTCTCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTTC CCTCTCCCCTTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0065 a0001c0001t0026g0065	1	326	0.0031	372	c.433 others(389): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGGGAGGGGA GGGGGAGGGGAGAGGGGAGGGGAAGGGGAGGGGAGGGGAAGGGGAGGGGG AGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGGGGGAGGGGAG GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
OPTN_chr10_13095163_13143308	13115253	T T	TTATATCT others(365): Show TTATATCTATATTTATATATATTTATAAATATAGATATATCTATATTTAT ATATATTTATAAATATAGATATATCTATATTTATATATATTTATAAATAT AGATATATCTATATTTATATATATTTATAAATATAGATATATCTATATTT ATATATATTTATAAATATAGATATATCTATATTTATATATATTTATAAAT ATAGATATATCTATATTTATATATATTTATAAATATAGATATATCTATAT TTATATATATTTATAAATATAGATATATCTATATTTATATATATTTATAA ATATAGATATATCTATATTTACATATATATAAATATAGATATATCTATAT TTATATATATTTATAAATATAGA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02615.hp2 HG02717.hp1 others(3): Show HG02257.hp1 HG02615.hp2 HG02717.hp1 HG02976.hp2 HG03516.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 others(3): Show a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122	6	418	0.0144	372	c.553 others(387): Show c.553-996_553-995insTATTTATAAATATAGATATATCTATATTTA TATATATTTATAAATATAGATATATCTATATTTATATATATTTATAAATA TAGATATATCTATATTTATATATATTTATAAATATAGATATATCTATATT TATATATATTTATAAATATAGATATATCTATATTTATATATATTTATAAA TATAGATATATCTATATTTATATATATTTATAAATATAGATATATCTATA TTTATATATATTTATAAATATAGATATATCTATATTTATATATATTTATA AATATAGATATATCTATATTTACATATATATAAATATAGATATATCTATA TTTATATATATTTATAAATATAGATATATCTATATTTATATA	OPTN	ENSG00000123240.17	transcript	ENST00000378747.8	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(365): Show ACTGAATGTACATTATTATTATTATTATTATTATTATTATTATTATTATT ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCA CTGCAAGCTCTGCTTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18998.hp2 NA18980.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	2	438	0.0046	372	c.-29 others(387): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAATAATA ATAATAATAATAATAATAATAATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(365): Show ACTGAATGTACATTATTATTATTATTATTATTATTATTATTATTATTATT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCA CTGCAAGCTCTGCTTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19087.hp2 NA19085.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	2	438	0.0046	372	c.-29 others(387): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAATA ATAATAATAATAATAATAATAATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(365): Show ACTGAATGTACATTATTATTATTATTATTATTATTATTATTATTATTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCA CTGCAAGCTCTGCTTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	438	0.0023	372	c.-29 others(387): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATA ATAATAATAATAATAATAATAATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(365): Show ACTGAATGTACATTATTATTATTATTATTATTATTATTATTATTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCA CTGCAAGCTCTGCTTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	438	0.0023	372	c.-29 others(387): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA ATAATAATAATAATAATAATAATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(365): Show ACTGAATGTACATTATTATTATTATTATTATTATTATTATTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCA CTGCAAGCTCTGCTTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG01975.hp1 others(3): Show HG01257.hp2 HG01258.hp2 HG01975.hp1 HG02148.hp2 HG03491.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	6	438	0.0137	372	c.-29 others(387): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAATAATAATAATAATAATAATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(365): Show ACTGAATGTACATTATTATTATTATTATTATTATTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCA CTGCAAGCTCTGCTTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0224 a0001c0001t0002g0224	1	438	0.0023	372	c.-29 others(387): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAATAATAATAATAATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
OSGIN1_chr16_83948240_83971332	83950683	A A	ACACACGT others(365): Show ACACACGTACATGCACACATGAGCACATGTGCACACATGCACATACATAC TGGCACACGTACACACACGCACACATGAGCACATGTGCACACATGCACAT ACATACTGGCACACACGTACACACATGCATACATGAGCACATGTGCACAC ATGCACATACATACTGGCACACGTACACGCACACATGAGCACATGTGCAC ACATGCCCATACACACTGGCACACACGTACACACACATGCACACATGAGC ACATGTGCACACATGCACATACACACTGGCACACACGTACACACACATGC ACACATGAGCACATGTGCACACATGCACATACATACCGGCACACGTACAC ACATGCACACATGAACACATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 HG03927.hp1 NA18999.hp1 others(1): Show HG02027.hp1 HG03927.hp1 NA18999.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0005 a0001c0001 a0001c0002 a0002c0005	a0001c0001t0001 a0001c0002t0004 a0002c0005t0004 a0001c0001t0001 a0001c0002t0004 a0002c0005t0004	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0002t0004g0132 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0002t0004g0132 a0002c0005t0004g0001	4	350	0.0114	372	c.-27 others(383): Show c.-2720_-2719insCACACGTACATGCACACATGAGCACATGTGCACA CATGCACATACATACTGGCACACGTACACACACGCACACATGAGCACATG TGCACACATGCACATACATACTGGCACACACGTACACACATGCATACATG AGCACATGTGCACACATGCACATACATACTGGCACACGTACACGCACACA TGAGCACATGTGCACACATGCCCATACACACTGGCACACACGTACACACA CATGCACACATGAGCACATGTGCACACATGCACATACACACTGGCACACA CGTACACACACATGCACACATGAGCACATGTGCACACATGCACATACATA CCGGCACACGTACACACATGCACACATGAACACATGTG	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		2556		chr16	TogoVar
PCBP3_chr21_45638725_45947450	45909792	C C	CCCCCCCC others(365): Show CCCCCCCCACCCACTGCCCAGATACGGACCCGGCCCACCCACTGCCCAGA TACGGACCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCCGCCCAC TGCCCAGATACGGACCCCCCCCGCCCACTGCCCAGATACGGACCCCCCCC CACCCACTGCCCAGATACGGACCCGGCCCACCCACTGCCCAGATACGGAC CCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCCGCCCACTGCCCAG ATACGGACCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCCACCCA CTGCCCAGATACGGACCCCCCCCGCCCACTGCCCAGATACGGACCCCCCC CCCGCCCACTGCCCAGATACGGA	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0054	1	292	0.0034	372	c.471 others(387): Show c.471+313_471+314insACCCACTGCCCAGATACGGACCCGGCCCAC CCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCCC CCCCCCGCCCACTGCCCAGATACGGACCCCCCCCGCCCACTGCCCAGATA CGGACCCCCCCCCACCCACTGCCCAGATACGGACCCGGCCCACCCACTGC CCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCCG CCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCC CCCCCCCACCCACTGCCCAGATACGGACCCCCCCCGCCCACTGCCCAGAT ACGGACCCCCCCCCCGCCCACTGCCCAGATACGGACCCCCCC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCED1A_chr20_2830314_2845655	2842868	A A	AGATAGAT others(365): Show AGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	436	0.0023	372	c.-26 others(383): Show c.-2680_-2679insGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATC GATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGATACA TCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATC TATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTA TCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATC GATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGA TAGATACATCTATCTATCGATAGATACATCTATCTATC	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2214		chr20	TogoVar
PDCD6_chr5_266646_319974	318063	T T	TGCACCTC others(365): Show TGCACCTCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCACCCTGC ACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCCACCTCCCCC CTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCACCT CCCCCCTCACCCACCACCTCCCGCCCTCACCCTCCACCTCCCCCCGCACC CTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCCCCC CTCACCCTGCACCTCCCTCTCACCCTGCACCTCCTCCCTCCCTCTCCCCC TCATCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCC ACCTCCCCCCTCCACCTCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	360	0.0028	372	c.35 others(383): Show c.3548_*3549insGCACCTCCCTTGCCCTGCACCTCCTCCCTCCCTC TCCCCCTCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCA CTTTCCACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCA CCTCCCCCCTCACCTCCCCCCTCACCCACCACCTCCCGCCCTCACCCTCC ACCTCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCA TCTTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCACCCTGCACCTCCT CCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCACTCCCCCTCACC TCCCCCCCACTTTCCACCTCCCCCCTCCACCTCCCCCC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3090		chr5	TogoVar
PDCD6_chr5_266646_319974	318069	T T	TCCCTTGC others(365): Show TCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCC CCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCCACCTCCCCCCTCCAC CTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCC TACACCTCCCCCCTCACCCTCCACCTCCCGCCCTCACCCTCCACCTCCCC CCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTAC CTCCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCCTCCCTCCCT CTCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTCACCTCCCCCCA CCTTCCACCTCCCCCCTCACTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02280.hp2 HG02257.hp1 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0272 a0001c0001t0005g0273 a0001c0001t0005g0272 a0001c0001t0005g0273	2	360	0.0056	372	c.35 others(383): Show c.3554_*3555insCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCC TCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCC ACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCC CCCTCACCTCCCCCCTACACCTCCCCCCTCACCCTCCACCTCCCGCCCTC ACCCTCCACCTCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCT CCCCCCATCTTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCGCCCTGC ACCTCCTCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCACGCCC CCTCACCTCCCCCCACCTTCCACCTCCCCCCTCACTTC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3096		chr5	TogoVar
PDCD6_chr5_266646_319974	318069	T T	TCCCTTGC others(365): Show TCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCC CCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCCACCTCCCCCCTCCAC CTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCC TCACCCACCACCTCCCGCCCTCACCCTCCACCTCCCCCCGCACCCTGCAC CTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCCCCCCTCACC CTGCACCTCCCTCTCACCCTGCACCTCCTCCCTCCCTCTCCCCCTCATCC TGCACCTCCCCCCTCCACGCCCCCTCACCTCCCCCCACCTTCCACCTCCC CCCTCCACCTCCCCCCTCACTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01358.hp1 HG01081.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0159 a0001c0001t0001g0160	2	360	0.0056	372	c.35 others(383): Show c.3554_*3555insCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCC TCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCC ACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCC CCCTCACCTCCCCCCTCACCCACCACCTCCCGCCCTCACCCTCCACCTCC CCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTT ACCTCCCCCCTCACCCTGCACCTCCCTCTCACCCTGCACCTCCTCCCTCC CTCTCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTCACCTCCCCC CACCTTCCACCTCCCCCCTCCACCTCCCCCCTCACTTC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3096		chr5	TogoVar
PDCD6_chr5_266646_319974	318069	T T	TCCCTTGC others(365): Show TCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCC CCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCCACCTCCCCCCTCCAC CTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCC TCACCCACCACCTCCCGCCCTCACCCTCCACCTCCCCCCGCACCCTGCAC CTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCCCCCCTCACC CTGCACCTCCCTCTCACCCTGCACCTCCTCCCTCCCTCTCCCCCTCATCC TGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCACCTTCCACCTCCC CCCTCCACCTCCCCCCTCACTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	360	0.0028	372	c.35 others(383): Show c.3554_*3555insCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCC TCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCC ACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCC CCCTCACCTCCCCCCTCACCCACCACCTCCCGCCCTCACCCTCCACCTCC CCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTT ACCTCCCCCCTCACCCTGCACCTCCCTCTCACCCTGCACCTCCTCCCTCC CTCTCCCCCTCATCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCC CACCTTCCACCTCCCCCCTCCACCTCCCCCCTCACTTC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3096		chr5	TogoVar
PDCD6_chr5_266646_319974	318069	T T	TCCCTTGC others(365): Show TCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCC CCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCCACCTCCCCCCTCCAC CTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCC TCACCCACCACCTCCCGCCCTCACCCTCCACCTCCCCCCGCACCCTGCAC CTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCCCCCCTCACC CTGCACCTCCCTCTCGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCATCC TGCACCTCCCCCCTCCACGCCCCCTCACCTCCCCCCACCTTCCACCTCCC CCCTCCACCTCCCCCCTCACTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00438.hp1 HG00438.hp2 others(71): Show HG00280.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp2 HG00735.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01167.hp1 HG01169.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01496.hp2 HG01891.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02040.hp2 HG02056.hp1 HG02080.hp1 HG02080.hp2 HG02132.hp1 HG02148.hp1 HG02258.hp1 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02486.hp1 HG02630.hp1 HG02647.hp1 HG02723.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03209.hp1 HG03471.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03831.hp1 HG03834.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18941.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18952.hp2 NA18964.hp2 NA18973.hp1 NA18978.hp2 NA18980.hp2 NA18983.hp1 NA18998.hp2 NA18999.hp1 NA19006.hp1 NA19012.hp1 NA19056.hp2 NA19065.hp2 NA19081.hp1 NA19090.hp1 NA19091.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0004c0006	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0002c0003t0007 a0004c0006t0001	a0001c0001t0001g0004 a0001c0001t0001g0021 a0001c0001t0001g0022 others(63): Show a0001c0001t0001g0004 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0092 a0001c0001t0001g0143 a0001c0002t0001g0002 a0001c0002t0001g0005 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0026 a0001c0002t0001g0031 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0041 a0001c0002t0001g0052 a0001c0002t0001g0087 a0001c0002t0001g0089 a0001c0002t0001g0091 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0122 a0001c0002t0001g0125 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0138 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0152 a0001c0002t0001g0154 a0001c0002t0001g0157 a0001c0002t0001g0174 a0001c0002t0001g0213 a0001c0002t0001g0319 a0001c0002t0001g0324 a0001c0002t0001g0325 a0001c0002t0001g0330 a0002c0003t0001g0027 a0002c0003t0001g0274 a0002c0003t0001g0293 a0002c0003t0007g0287 a0004c0006t0001g0025	74	360	0.2056	372	c.35 others(383): Show c.3554_*3555insCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCC TCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCC ACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCC CCCTCACCTCCCCCCTCACCCACCACCTCCCGCCCTCACCCTCCACCTCC CCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTT ACCTCCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCCTCCCTCC CTCTCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTCACCTCCCCC CACCTTCCACCTCCCCCCTCCACCTCCCCCCTCACTTC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3096		chr5	TogoVar
PDXDC1_chr16_14970026_15043332	15022336	T T	TCTTATCA others(365): Show TCTTATCACCAGCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTTGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCA CTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02257.hp1 NA19043.hp1 HG02257.hp1 NA19043.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0132 a0001c0005t0005g0133 a0001c0005t0005g0132 a0001c0005t0005g0133	2	279	0.0072	372	c.109 others(389): Show c.1090-352_1090-351insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTTGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCG GCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCT CGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCCTTATCACCAGCTCTT	PDXDC1	ENSG00000179889.20	transcript	ENST00000396410.9	protein_coding	12/22		INFO_REALIGN_3_PRIME	chr16	TogoVar
PIAS4_chr19_4002736_4044386	4011658	T T	TGGTGTGG others(365): Show TGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGGTGTGT TTGGTGTGGAGCTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTG GGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGT TTGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTG TGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGT GAGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTG TGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGT GTGTGGGGTGTGGAGGTGTGTGG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03579.hp1 HG03486.hp2 HG03579.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0008 a0001c0004t0003 a0001c0004t0008	a0001c0004t0003g0301 a0001c0004t0008g0300 a0001c0004t0003g0301 a0001c0004t0008g0300	2	334	0.0060	372	c.28- others(387): Show c.28-1251_28-1250insTGGGGTGTGGAGGTGTGTTTGGTGTGGAGG TGTGTTTGGTGTGGAGCTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGT GTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAGG TGTGTTTGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAG GTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGTGGGGTGTGGA GGTGTGAGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGG AGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTG GAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTG	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
PIGQ_chr16_564968_589109	571086	T T	TGTCTGCC others(365): Show TGTCTGCCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTG TCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTG TCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTG TGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTG TATGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTG TGTGTGTGTGGGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCC TGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTG TGTGTGTGGCTAGCCTGGCGCCC	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0086 a0003c0003t0003g0086	1	408	0.0025	372	c.-10 others(387): Show c.-10+992_-10+993insCTGCCTAGCCTGTGTGTGTGTGTCTGGCTA GCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGC CTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTAT GTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTG GTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGTGCCCGTGG CTAGCCTGGTGCCCGTGTGTGTGTGTGGGGGGGGGGGCTAGCCTTGTGTG TGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTC TGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGT	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PIMREG_chr17_6439455_6456469	6455737	G G	GAGGGGAG others(365): Show GAGGGGAGGGGAAGAGGGGAGGGGAGGGGAGGGGGAAGAGGGGAGGGGAG GGGAGGGGGAAGAGGGGAGGGGAGGAGATGGGAGGGGGAAGAGGGGAAGG GAGGGGAGGGGGAATAGGGGAGGGGAGAGGAGGGAAGAGGGAAGAGGGGA GGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGG GGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGG AGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAG GGGGAAGAGGGGAAGGGGGGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGA TGGGAGGGGAAGAGGGGAGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0034 a0001c0001t0002g0034	1	312	0.0032	372	c.53 others(383): Show c.5390_*5391insAGGGGAGGGGAAGAGGGGAGGGGAGGGGAGGGGG AAGAGGGGAGGGGAGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGGGAGG GGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAGGGA AGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGA AGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAG AGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAG GGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGGGGAGGGGAGAGGAGGGA AGGGGGAAGAGGGGATGGGAGGGGAAGAGGGGAGGGGA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4269		chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6455737	G G	GAGGGGAG others(365): Show GAGGGGAGGGGAAGAGGGGAGGGGAGGGGAGGGGGAAGAGGGGAGGGGAG GGGAGGGGGAAGAGGGGAGGGGAGGAGATGGGAGGGGGAAGAGGGGAAGG GAGGGGAGGGGGAATAGGGGAGGGGAGAGGAGGGAAGAGGGAAGAGGGGA GGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGG GGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGG AGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAG GGGGAAGAGGGGAAGGGGGGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGA TGGGAGGGGAAGAGGGGAGGGGA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0146 a0001c0002t0011g0146	1	218	0.0046	372	c.262 others(387): Show c.2620-95_2620-94insTCCCCTCCCCTCTTCCCCTCCCATCCCCTC TTCCCCCTTCCCTCCTCTCCCCTCCCCCCTTCCCCTCTTCCCCCTCCCCT CCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCC CTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCT TCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCCTC TTCCCTCTTCCCTCCTCTCCCCTCCCCTATTCCCCCTCCCCTCCCTTCCC CTCTTCCCCCTCCCATCTCCTCCCCTCCCCTCTTCCCCCTCCCCTCCCCT CCCCTCTTCCCCCTCCCCTCCCCTCCCCTCTTCCCCTCCCCT	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding	19/19			chr17	TogoVar
PKP3_chr11_389209_409908	398356	C C	CCCCGCAC others(365): Show CCCCGCACATACCTGCGTCACCTCCCTACCCCCACATATACCTCATCACC TCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCACATATACCT CATCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCACA TATACCTCATCACCTCCATACCCCCACACACACCTGCGTCACCTCCGTAC CCCCGCACACACCTGCGTCACCTCCGTAACCCCGCACACACCTCCGTCAC CTCCGTACCCCCGCACATACCTGCGTCACCTCCCTACCCCCACATATACC TCATCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCAC ATATACCTCATCACCTCCGTACA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0107 a0001c0002t0001g0107	1	216	0.0046	372	c.106 others(389): Show c.1069-628_1069-627insTACCTGCGTCACCTCCCTACCCCCACAT ATACCTCATCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACC CCCACATATACCTCATCACCTCCGTACCCCCGCACACACCTGCGTCACCT CCCTACCCCCACATATACCTCATCACCTCCATACCCCCACACACACCTGC GTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCGTAACCCCGCAC ACACCTCCGTCACCTCCGTACCCCCGCACATACCTGCGTCACCTCCCTAC CCCCACATATACCTCATCACCTCCGTACCCCCGCACACACCTGCGTCACC TCCCTACCCCCACATATACCTCATCACCTCCGTACACCCGCACA	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLPP1_chr5_55419854_55539964	55433460	T T	TTCAGTAA others(365): Show TTCAGTAAAGTTTTTTGTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCGGGACTGAGGACTGCAGTGGCGCAATCTCGGCTCACTGCA AGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CCTGAGCCACCGCGCCCGGCCAC	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	294	0.0034	372	c.550 others(389): Show c.550-7422_550-7421insGTGGCCGGGCGCGGTGGCTCAGGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCTCAGTCCCGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAACAAAAAAAAACAAAAAACTTTACTGA	PLPP1	ENSG00000067113.17	transcript	ENST00000307259.9	protein_coding	4/5			chr5	TogoVar
PLPP2_chr19_276043_296403	291612	G G	GGGGGGGA others(365): Show GGGGGGGACGGCAGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGGG GAGGGCAGCAGGGGAGAGGGGAGGAGGGGCGGGGAGGGGAGGGGAGGAGG GAGGGGGAGGGGAGGAGGGAGGGGGGACGGCAGCGGCGGGCAGGGGAGCG GCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGGAGGGGAGGGAGGGGAAG GGGAGGAGGGGGGGAGGGGAGGGGAGGAAGGCGGGGACGGCAGCGGCGGG CAGGGGAGCAGCGGGCGGGGCGGGGAGGAGGGGAGGGTTAGGGGCGGGGA GGGGAGGAGGGAGGGGGAGGGGAGGAGGGGCGGGGAGGGGAGAGGGGGGA GGGGAGGAGGGAGGGGGAGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02976.hp2 HG02280.hp1 HG02976.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0046 a0002c0002t0001g0188 a0002c0002t0001g0046 a0002c0002t0001g0188	2	354	0.0057	372	c.-27 others(381): Show c.-277_-276insTCCCCTCCCCCTCCCTCCTCCCCTCCCCCCTCTCCC CTCCCCGCCCCTCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCGCCCCTAA CCCTCCCCTCCTCCCCGCCCCGCCCGCTGCTCCCCTGCCCGCCGCTGCCG TCCCCGCCTTCCTCCCCTCCCCTCCCCCCCTCCTCCCCTTCCCCTCCCTC CCCTCCTCCCCGCCCCGCCCGCCGCTCCCCTGCCCGCCGCTCCCCTGCCC GCCGCTGCCGTCCCCCCTCCCTCCTCCCCTCCCCCTCCCTCCTCCCCTCC CCTCCCCGCCCCTCCTCCCCTCTCCCCTGCTGCCCTCCCCTCCCCGCCCC GCCCGCCGCTCCCCTGCCCGCCGCTGCCGTCCCCCC	PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding		210		chr19	TogoVar
PPP6R2_chr22_50338327_50450090	50433359	C C	CGGACGCT others(365): Show CGGACGCTGGGCAGGGGCCGGGCATTTGCCCTGGAGGTGAACCTGGAGGA GGGCCGGGGGCGTGGACGCTGGGCAGGGGCCGGGCATTTGCCCTGGAGGT GAACCTGGAGGAGGGCCGGGGGCGTGGATGCTGGGCAGGGGCCGGGCATT TGCTCTGGAGGTGAACCTGGAGGAGGGCCGGGGGCATGGACGCTGGGCAG GGGCCGGGCATTTGCCCTGGAGGTGAACCTGGAGGAGGGCCGGGGGCATG GACGCTGGGCAGGGGCCGGGCATTTGCTCTGGAGGTGAACCTGGAGGAGG GCCGGGGGCGTGGACGCTGGGCAGGGGCCGGGCATTTGCCCTGGAGGTGA ACCTGGAGGAGGGCCGGGGGCAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0298 a0001c0002t0011g0298	1	340	0.0029	372	c.140 others(391): Show c.1400+1058_1400+1059insCCTGGAGGTGAACCTGGAGGAGGGCC GGGGGCGTGGACGCTGGGCAGGGGCCGGGCATTTGCCCTGGAGGTGAACC TGGAGGAGGGCCGGGGGCGTGGATGCTGGGCAGGGGCCGGGCATTTGCTC TGGAGGTGAACCTGGAGGAGGGCCGGGGGCATGGACGCTGGGCAGGGGCC GGGCATTTGCCCTGGAGGTGAACCTGGAGGAGGGCCGGGGGCATGGACGC TGGGCAGGGGCCGGGCATTTGCTCTGGAGGTGAACCTGGAGGAGGGCCGG GGGCGTGGACGCTGGGCAGGGGCCGGGCATTTGCCCTGGAGGTGAACCTG GAGGAGGGCCGGGGGCATGGACGCTGGGCAGGGGCCGGGCATTTGC	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
RBPMS_chr8_30379541_30577256	30388398	G G	GCTTATAA others(365): Show GCTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAAC TTATAGCTATAGCTATAAGCTAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0134 a0002c0002t0002g0134	1	304	0.0033	372	c.66+ others(387): Show c.66+3483_66+3484insGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAAC TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGC TATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RETNLB_chr3_108750638_108762410	108759494	T T	TGTATGTA others(365): Show TGTATGTATGTATGTGTATGCATACATATGTATGTGTATGCATACATATG TATGTGTATGCATACATATGTATGTGTATGCATACATATGTATGTATGTG TATACATACGTATGTATGTATGTGTATACATACGTATGTATGTATGTGTA TACATACGTATGTATGTATGTGTATACATACGTATGTATGTGTATACATA CATACGTATGTATGTGTACACATACGTATGTATGTGTATACATACATACG TATGTATGTGTACACATACGTATGTATGTGTACACATACATACGTATGTA TGTGTACACATACGTATGTATGTGTACACATACGTATGTATGTGTACACA TACGTATGTATGTGTACACATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	452	0.0022	372	c.-23 others(383): Show c.-2310_-2309insGTATGTGTACACATACATACGTATGTGTACACAT ACATACGTATGTGTACACATACATACGTATGTGTACACATACATACGTAT GTATGTGTACACATACATACGTATGTGTACACATACATACGTATGTATGT ATACACATACATACGTATGTGTACACATACATACGTATGTATGTATACAC ATACATACGTATGTATACACATACATACATACGTATGTATACACATACAT ACATACGTATGTATACACATACATACATACGTATGTATACACATACATAC ATATGTATGCATACACATACATATGTATGCATACACATACATATGTATGC ATACACATACATATGTATGCATACACATACATACATAC	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2085		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759494	T T	TGTATGTA others(365): Show TGTATGTATGTATGTGTATGCATACATATGTATGTGTATGCATACATATG TATGTGTATGCATACATATGTATGTGTATGCATACGTATGTATGTATGTG TATACATACGTATGTATGTATGTGTATACATACGTATGTATGTATGTGTA TACATACGTATGTATGTGTATACATACATATGTATGTATGTGTATACATA CGTATGTATGTGTATACATACATATGTATGTATGTGTATACATACATATG TATGTGTATACATACATACGTATGTATGTGTACACATACGTATGTATGTG TACACATACATATGTATGTATGTGTACACATACATATGTATGTGTACACA TACATACGTATGTATACACATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0006	1	452	0.0022	372	c.-23 others(383): Show c.-2310_-2309insGTATGTGTATACATACGTATGTATGTGTACACAT ACATATGTATGTGTACACATACATACATATGTATGTGTACACATACATAC GTATGTGTACACATACATACGTATGTATGTATACACATACATATGTATGT ATACACATACATACATATGTATGTATACACATACATACGTATGTATACAC ATACATACATATGTATGTATACACATACATACGTATGTATACACATACAT ACATACGTATGTATACACATACATACATACGTATGTATACACATACATAC ATACGTATGCATACACATACATATGTATGCATACACATACATATGTATGC ATACACATACATATGTATGCATACACATACATACATAC	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2085		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759494	T T	TGTATGTA others(365): Show TGTATGTATGTATGTGTATGCATACATATGTATGTGTATGCATACATATG TATGTGTATGCATACATATGTATGTGTATGCATACGTATGTATGTATGTG TATACATACGTATGTATGTATGTGTATACATACGTATGTATGTATGTGTA TACATACGTATGTATGTGTATACATACGTATGTATGTGTATACATACATA CGTATGTATGTGTACACATACGTATGTATGTGTATACATACATACGTATG TATGTGTACACATACGTATGTATGTGTATACATACATACGTATGTATGTG TACACATACGTATGTATGTGTACACATACATATGTATGTATGTGTACACA TACATATGTATGTGTACACATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0003 a0005c0005t0003	a0005c0005t0003g0023 a0005c0005t0003g0023	1	452	0.0022	372	c.-23 others(383): Show c.-2310_-2309insGTATGTGTACACATACATATGTATGTGTACACAT ACATACATATGTATGTGTACACATACATACGTATGTGTACACATACATAC GTATGTATGTATACACATACATACGTATGTGTACACATACATACGTATGT ATGTATACACATACATACGTATGTGTACACATACATACGTATGTATGTAT ACACATACATACGTATGTATACACATACATACGTATGTATACACATACAT ACATACGTATGTATACACATACATACATACGTATGTATACACATACATAC ATACGTATGCATACACATACATATGTATGCATACACATACATATGTATGC ATACACATACATATGTATGCATACACATACATACATAC	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2085		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759512	T T	TGCATACA others(365): Show TGCATACATATGTATGTGTATGCATACATATGTATGTGTATGCATACATA TGTATGTGTATGCATACATATGTATGTATGTGTATACATACGTATGTATG TATGTGTATACATACGTATGTATGTATGTGTATACATACGTATGTATGTA TGTGTATACATACGTATGTATGTGTATACATACATACGTATGTATGTGTA CACATACGTATGTATGTGTATACATACATACGTATGTATGTGTACACATA CGTATGTATGTGTACACATACATACGTATGTATGTGTACACATACGTATG TATGTGTACACATACATATGTATGTGTACACATACGTATGTATGTGTACA CATACATACGTATGTATGTGTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	452	0.0022	372	c.-23 others(383): Show c.-2328_-2327insGTACACATACATACGTATGTATGTGTACACATAC ATACGTATGTGTACACATACATATGTATGTGTACACATACATACGTATGT GTACACATACATACGTATGTATGTGTACACATACATACGTATGTGTACAC ATACATACGTATGTATGTATACACATACATACGTATGTGTACACATACAT ACGTATGTATGTATACACATACATACGTATGTATACACATACATACATAC GTATGTATACACATACATACATACGTATGTATACACATACATACATACGT ATGTATACACATACATACATATGTATGCATACACATACATATGTATGCAT ACACATACATATGTATGCATACACATACATATGTATGC	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2103		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759540	T T	TATGTATG others(365): Show TATGTATGTGTATGCATACATATGTATGTGTATGCATACGTATGTATGTA TGTGTATACATACGTATGTATGTATGTGTATACATACGTATGTATGTATG TGTATACATACGTATGTATGTATGTGTATACATACGTATGTATGTGTATA CATACATACGTATGTATGTGTATACATACGTATGTATGTGTATACATACA TACGTATGTATGTGTATACATACGTATGTATGTGTATACATACATACGTA TGTATGTGTACACATACGTATGTATGTGTACACATACATATGTATGTATG TGTACACATACGTATGTATGTGTACACATACATATGTATGTATGTGTACA CATACATATGTATGTATGTGTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	452	0.0022	372	c.-23 others(383): Show c.-2356_-2355insGTACACATACATACATATGTATGTGTACACATAC ATACATATGTATGTGTACACATACATACGTATGTGTACACATACATACAT ATGTATGTGTACACATACATACGTATGTGTACACATACATACGTATGTAT GTATACACATACATACGTATGTATACACATACATACGTATGTATGTATAC ACATACATACGTATGTATACACATACATACGTATGTATGTATACACATAC ATACGTATGTATACACATACATACATACGTATGTATACACATACATACAT ACGTATGTATACACATACATACATACGTATGTATACACATACATACATAC GTATGCATACACATACATATGTATGCATACACATACAT	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2131		chr3	TogoVar
RGS12_chr4_3288021_3444913	3341502	G G	GGGCGGAG others(365): Show GGGCGGAGGGGAGGGTGGAGAGATGGGGGTGTGGGGAGGGGACAAGGGTG GAGAGATGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGGGGA GGGGAGGGTGGAGAGTTGGGGGTGTGGGGGGAGGGAGGGTGGAGAGATGG GGGTGTGGGCGGAGGGGAGGGTGGAGAGATGGGGGTGTGGGGAGGGGAGG GTGGAGAGATGGTGTGGGGGGGAGGGGAGGGTGGAGAGATGGGGGTGTGG GGGGAGGGGAGGGTGGAGAGTTGGGGGTGTGGGGGGAGGGGAGGGTGGAG AGATGGGGGTGTGGGGAGGGGACAAGGGTGGAGAGATGGTGTGGGGGGAG GGAGGGTGGAGAGATGGGGGTGT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0266 a0001c0004t0001g0266	1	312	0.0032	372	c.188 others(391): Show c.1882-1434_1882-1433insGCGGAGGGGAGGGTGGAGAGATGGGG GTGTGGGGAGGGGACAAGGGTGGAGAGATGGTGTGGGGGGAGGGAGGGTG GAGAGATGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGTTGGGGGTGTGGG GGGAGGGAGGGTGGAGAGATGGGGGTGTGGGCGGAGGGGAGGGTGGAGAG ATGGGGGTGTGGGGAGGGGAGGGTGGAGAGATGGTGTGGGGGGGAGGGGA GGGTGGAGAGATGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGTTGGGGGT GTGGGGGGAGGGGAGGGTGGAGAGATGGGGGTGTGGGGAGGGGACAAGGG TGGAGAGATGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTG	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RIMBP2_chr12_130391133_130721299	130482867	T T	TTGTGTGT others(365): Show TTGTGTGTGTACATGTGTCAGATTCTGCAGGGGAGGGGGCAGACCTCATC CAATTACACCCATTGTGTGTGTACATGTGTCAGATTCTGCAGGGGAGGGG GCAGACCTCATCCAAATACACCCACTGTGTGTGTACATGTGTCCTATTCT GCAGGGGAGGGGGCACACCTCATCCAAATACACCCATTGTGTGTGTACAT GTGTCAGATTCTGCAGGGGAGGGGGCAGACCTCATCCCAATACACCCATT GTGTGTGTACATGTGTCAGATTCTGCAGGGGAGGGGGCAGACCTCATCCC AATACACCCATTGTGTGTGTACATGTGTCAGATTCTGCAGGGGAGGGGGC AGACCTCATCCAAATACACCCAC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0154 a0001c0003t0001g0154	1	180	0.0056	372	c.-3- others(387): Show c.-3-3852_-3-3851insGTGGGTGTATTTGGATGAGGTCTGCCCCCT CCCCTGCAGAATCTGACACATGTACACACACAATGGGTGTATTGGGATGA GGTCTGCCCCCTCCCCTGCAGAATCTGACACATGTACACACACAATGGGT GTATTGGGATGAGGTCTGCCCCCTCCCCTGCAGAATCTGACACATGTACA CACACAATGGGTGTATTTGGATGAGGTGTGCCCCCTCCCCTGCAGAATAG GACACATGTACACACACAGTGGGTGTATTTGGATGAGGTCTGCCCCCTCC CCTGCAGAATCTGACACATGTACACACACAATGGGTGTAATTGGATGAGG TCTGCCCCCTCCCCTGCAGAATCTGACACATGTACACACACA	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	4/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130483273	G G	GGGGGCAC others(365): Show GGGGGCACACCTCATCCAAATACACCCATTGTGTGTGTACATGTGTCAGA TTCTGCAGGGGAGGGGGCAGACCTCATCCCAATACACCCATTGTGTGTGT ACATGTGTCAGATTCTGCAGGGGAGGGGGCAGACCTCATCCCAATACACC CATTGTGTGTGTACATGTGTCAGATTCTGCAGGGGAGGGGGCAGACCTCA TCCAAATACACCCACTGTGTGTGTACATGTGTCAGATTCTGCAGGGGAGG GGGCAGACCTCATCCAAATACACCCACTGTGTGTGTACATGTGTCAGATT CTGCAGGGGAGGGGGCAGACCTCATCCAGATATACCGATTGTGTGTGTAC ATGTGTCACATTCTGCAGGGGAT	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	180	0.0056	372	c.-3- others(387): Show c.-3-4258_-3-4257insATCCCCTGCAGAATGTGACACATGTACACA CACAATCGGTATATCTGGATGAGGTCTGCCCCCTCCCCTGCAGAATCTGA CACATGTACACACACAGTGGGTGTATTTGGATGAGGTCTGCCCCCTCCCC TGCAGAATCTGACACATGTACACACACAGTGGGTGTATTTGGATGAGGTC TGCCCCCTCCCCTGCAGAATCTGACACATGTACACACACAATGGGTGTAT TGGGATGAGGTCTGCCCCCTCCCCTGCAGAATCTGACACATGTACACACA CAATGGGTGTATTGGGATGAGGTCTGCCCCCTCCCCTGCAGAATCTGACA CATGTACACACACAATGGGTGTATTTGGATGAGGTGTGCCCC	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	4/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130483273	G G	GGGGGCAC others(365): Show GGGGGCACACCTCATCCAAATACACCCATTGTGTGTGTACATGTGTCAGA TTCTGCAGGGGAGGGGGCAGACCTCATCCCAATACACCCATTGTGTGTGT ACATGTGTCAGATTCTGCAGGGGAGGGGGCAGACCTCATCCCAATACACC CATTGTGTGTGTACATGTGTCAGATTCTGCAGGGGAGGGGGCAGACCTCA TCCAAATACACCCATTGTGTGTGTACATGTGTCAGATTCTGCAGGGGAGG GGGCAGACCTCATCCAAATACACCCACTGTGTGTGTACATGTGTCAGATT CTGCAGGGGAGGGGGCAGACCTCATCCAGATATACCGATTGTGTGTGTAC ATGTGTCACATTCTGCAGGGGAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02622.hp2 HG03486.hp1 HG02486.hp1 HG02622.hp2 HG03486.hp1	a0003 a0008 a0017 a0003 a0008 a0017	a0003c0042 a0008c0013 a0017c0052 a0003c0042 a0008c0013 a0017c0052	a0003c0042t0003 a0008c0013t0003 a0017c0052t0003 a0003c0042t0003 a0008c0013t0003 a0017c0052t0003	a0003c0042t0003g0068 a0008c0013t0003g0175 a0017c0052t0003g0093 a0003c0042t0003g0068 a0008c0013t0003g0175 a0017c0052t0003g0093	3	180	0.0167	372	c.-3- others(387): Show c.-3-4258_-3-4257insATCCCCTGCAGAATGTGACACATGTACACA CACAATCGGTATATCTGGATGAGGTCTGCCCCCTCCCCTGCAGAATCTGA CACATGTACACACACAGTGGGTGTATTTGGATGAGGTCTGCCCCCTCCCC TGCAGAATCTGACACATGTACACACACAATGGGTGTATTTGGATGAGGTC TGCCCCCTCCCCTGCAGAATCTGACACATGTACACACACAATGGGTGTAT TGGGATGAGGTCTGCCCCCTCCCCTGCAGAATCTGACACATGTACACACA CAATGGGTGTATTGGGATGAGGTCTGCCCCCTCCCCTGCAGAATCTGACA CATGTACACACACAATGGGTGTATTTGGATGAGGTGTGCCCC	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	4/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130483295	C C	CACCCACT others(365): Show CACCCACTGTGTGTGTACATGTGTCAGATTCTGCAGGGGAGGGGGCACAC CTCATCCAAATACACCCATTGTGTGTGTACATGTGTCAGATTCTGCAGGG GAGGGGGCAGACCTCATCCCAATACACCCATTGTGTGTGTACATGTGTCA GATTCTGCAGGGGAGGGGGCAGACCTCATCCCAATACACCCATTGTGTGT GTACATGTGTCAGATTCTGCAGGGGAGGGGGCAGACCTCATCCAAATACA CCCACTGTGTGTGTACATGTGTCAGATTCTGCAGGGGAGGGGGCAGACCT CATCCAGATATACCGATTGTGTGTGTACATGTGTCACATTCTGCAGGGGA TGGGGCAGACCTCATCCAAATAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0007 a0007	a0007c0018 a0007c0018	a0007c0018t0001 a0007c0018t0001	a0007c0018t0001g0052 a0007c0018t0001g0052	1	180	0.0056	372	c.-3- others(387): Show c.-3-4280_-3-4279insATATTTGGATGAGGTCTGCCCCATCCCCTG CAGAATGTGACACATGTACACACACAATCGGTATATCTGGATGAGGTCTG CCCCCTCCCCTGCAGAATCTGACACATGTACACACACAGTGGGTGTATTT GGATGAGGTCTGCCCCCTCCCCTGCAGAATCTGACACATGTACACACACA ATGGGTGTATTGGGATGAGGTCTGCCCCCTCCCCTGCAGAATCTGACACA TGTACACACACAATGGGTGTATTGGGATGAGGTCTGCCCCCTCCCCTGCA GAATCTGACACATGTACACACACAATGGGTGTATTTGGATGAGGTGTGCC CCCTCCCCTGCAGAATCTGACACATGTACACACACAGTGGGT	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	4/22			chr12	TogoVar
RIN2_chr20_19753258_20007456	19924336	T T	TTCGTACC others(365): Show TTCGTACCCCACCTTCACACCCCACCTTCATACCCCCACCTTCATACCCC CACTTTCCATACCCCTACCTTCATTCCCCACCTTTTCATACCCCCACCTT CATACCCTACCTCTTTATACCCCCACCTTCATACCCCCACCTTCATACCC CCACCTTCATACCCCCACCTTCATACCCCACCTTCATACACCCACCTTCA TACCCCACCTTCATACCCTCACCTTCATACCCTCACCTCCATACCTCACC TTCCTACCCCCACCTTCATACCCCACCTTCATACCCTCACCTTCATACCC TCACCTCCATACCCTCACCTTCATACCCTCACCTTCATACCCCACCTTCA TACCCTCACCTTCATACCCCCAC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01074.hp2 HG01123.hp1 others(13): Show HG00438.hp2 HG01074.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01433.hp1 HG01934.hp1 HG01978.hp2 HG01993.hp2 HG02015.hp2 HG02040.hp2 HG02074.hp1 HG02132.hp2 NA18995.hp2 NA18998.hp1 NA18998.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004	a0001c0001t0003 a0001c0001t0035 a0001c0002t0001 others(8): Show a0001c0001t0003 a0001c0001t0035 a0001c0002t0001 a0001c0002t0002 a0001c0002t0010 a0001c0002t0018 a0001c0002t0019 a0001c0002t0028 a0002c0003t0005 a0002c0003t0015 a0002c0004t0003	a0001c0001t0003g0121 a0001c0001t0003g0152 a0001c0001t0035g0058 others(13): Show a0001c0001t0003g0121 a0001c0001t0003g0152 a0001c0001t0035g0058 a0001c0002t0001g0061 a0001c0002t0002g0050 a0001c0002t0010g0071 a0001c0002t0010g0088 a0001c0002t0010g0276 a0001c0002t0018g0207 a0001c0002t0018g0208 a0001c0002t0019g0026 a0001c0002t0028g0270 a0002c0003t0005g0112 a0002c0003t0015g0039 a0002c0003t0015g0122 a0002c0004t0003g0033	16	276	0.0580	372	c.58- others(389): Show c.58-10763_58-10762insTCGTACCCCACCTTCACACCCCACCTTC ATACCCCCACCTTCATACCCCCACTTTCCATACCCCTACCTTCATTCCCC ACCTTTTCATACCCCCACCTTCATACCCTACCTCTTTATACCCCCACCTT CATACCCCCACCTTCATACCCCCACCTTCATACCCCCACCTTCATACCCC ACCTTCATACACCCACCTTCATACCCCACCTTCATACCCTCACCTTCATA CCCTCACCTCCATACCTCACCTTCCTACCCCCACCTTCATACCCCACCTT CATACCCTCACCTTCATACCCTCACCTCCATACCCTCACCTTCATACCCT CACCTTCATACCCCACCTTCATACCCTCACCTTCATACCCCCAC	RIN2	ENSG00000132669.14	transcript	ENST00000255006.12	protein_coding	3/12			chr20	TogoVar
RTN4IP1_chr6_106565771_106634498	106589237	G G	GGAGGAGG others(365): Show GGAGGAGGAGGGAGGAGGGAGGGAGTAGGGAGGGGAGGAGGAGGGAGGGG GAGGGAGGAGGAGGGAGGGGGAGGGAGGAGGAGGGAGGGGGAGGGAGGAG GAGGGAGGGGGAGGAGGGAGGGAGGGGGAGGGAGGGAGGAGGAGGGAGGG GGAGGAGGGAGGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGGAGGGAG GGGGAGAAGGGGGAGAAGAAGGAGAAGAAGGAGAAGAGGAAGAGGAAGAA GAGGAAGAGGAAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGA AGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAG GAGGAGAAGAAGGAGGAGGAGAA	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0001 a0006c0011t0001	a0006c0011t0001g0255 a0006c0011t0001g0255	1	396	0.0025	372	c.807 others(389): Show c.807-1376_807-1375insTTCTCCTCCTCCTTCTTCTCCTCCTCCT TCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCC TCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTTCCTCTTCCTCTTCTT CCTCTTCCTCTTCTCCTTCTTCTCCTTCTTCTCCCCCTTCTCCCCCTCCC TCCTCCCCCTCCCTCCTCCCCCTCCCTCCTCCCCCTCCCTCCTCCCCCTC CCTCCTCCTCCCTCCCTCCCCCTCCCTCCCTCCTCCCCCTCCCTCCTCCT CCCTCCCCCTCCCTCCTCCTCCCTCCCCCTCCCTCCTCCTCCCTCCCCCT CCCTCCTCCTCCCCTCCCTACTCCCTCCCTCCTCCCTCCTCCTC	RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding	6/8			chr6	TogoVar
RTN4IP1_chr6_106565771_106634498	106589237	G G	GGAGGAGG others(365): Show GGAGGAGGGAGGAGGAGGGAGGGGGAGGGAGGGGGAGGGAGGAGGAGGGA GGGGGAGGGAGGAGGAGGGAGGGGGAGGGAGGAGGAGGGAGGGGGAGGAG GGAGGGAGGGGGAGGGAGGGAGGGGGAGGGAGGGAGGAGGAGGGAGGGGG AGGAGGGAGGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGAAGGGGGAG AAGAAGGAGAAGAAGGAGAAGAGGAAGAGGAAGAAGAGGAAGAGGAAGGA GGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGA AGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAG GAGGAGAAGAAGGAGGAGGAGAA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	396	0.0025	372	c.807 others(389): Show c.807-1376_807-1375insTTCTCCTCCTCCTTCTTCTCCTCCTCCT TCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCC TCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTT CCTCTTCCTCTTCTTCCTCTTCCTCTTCTCCTTCTTCTCCTTCTTCTCCC CCTTCTCCCCCTCCCTCCTCCCCCTCCCTCCTCCCCCTCCCTCCTCCCCC TCCCTCCTCCTCCCTCCCTCCCCCTCCCTCCCTCCCCCTCCCTCCCTCCT CCCCCTCCCTCCTCCTCCCTCCCCCTCCCTCCTCCTCCCTCCCCCTCCCT CCTCCTCCCTCCCCCTCCCTCCCCCTCCCTCCTCCTCCCTCCTC	RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding	6/8			chr6	TogoVar
RTN4IP1_chr6_106565771_106634498	106589237	G G	GGAGGAGG others(365): Show GGAGGAGGGAGGAGGAGGGAGGGGGAGGGAGGGGGAGGGAGGAGGAGGGA GGGGGAGGGAGGAGGAGGGAGGGGGAGGGAGGAGGAGGGAGGGGGAGGGA GGAGGAGGGAGGGGGAGGAGGGAGGGAGGGGGAGGGAGGGAGGAGGAGGG AGGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGAAG GGGGAGAAGAAGGAGAAAAAGGAGAAGAGGAAGAGGAAGAAGAGGAAGAG GAAGGAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGA AGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAG GAGGAGAAGAAGGAGGAGGAGAA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0051	1	396	0.0025	372	c.807 others(389): Show c.807-1376_807-1375insTTCTCCTCCTCCTTCTTCTCCTCCTCCT TCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCC TCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTCCTTCCTCTT CCTCTTCTTCCTCTTCCTCTTCTCCTTTTTCTCCTTCTTCTCCCCCTTCT CCCCCTCCCTCCTCCCCCTCCCTCCTCCCCCTCCCTCCTCCCCCTCCCTC CTCCTCCCTCCCTCCCCCTCCCTCCCTCCTCCCCCTCCCTCCTCCTCCCT CCCCCTCCCTCCTCCTCCCTCCCCCTCCCTCCTCCTCCCTCCCCCTCCCT CCTCCTCCCTCCCCCTCCCTCCCCCTCCCTCCTCCTCCCTCCTC	RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding	6/8			chr6	TogoVar
RTN4IP1_chr6_106565771_106634498	106589237	G G	GGAGGAGG others(365): Show GGAGGAGGGAGGAGGAGGGAGGGGGAGGGAGGGGGAGGGAGGAGGAGGGA GGGGGAGGGAGGAGGAGGGAGGGGGAGGGAGGAGGAGGGAGGGGGAGGGA GGAGGAGGGAGGGGGAGGAGGGAGGGAGGGGGAGGGAGGGAGGAGGAGGG AGGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGAAG GGGGAGAAGAAGGAGAAGAAGGAGAAGAGGAAGAGGAAGAAGAGGAAGAG GAAGGAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGA AGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAG GAGGAGAAGAAGGAGGAGGAGAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00639.hp1 HG00323.hp2 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0062 a0001c0001t0002g0090 a0001c0001t0002g0062 a0001c0001t0002g0090	2	396	0.0051	372	c.807 others(389): Show c.807-1376_807-1375insTTCTCCTCCTCCTTCTTCTCCTCCTCCT TCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCC TCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTCCTTCCTCTT CCTCTTCTTCCTCTTCCTCTTCTCCTTCTTCTCCTTCTTCTCCCCCTTCT CCCCCTCCCTCCTCCCCCTCCCTCCTCCCCCTCCCTCCTCCCCCTCCCTC CTCCTCCCTCCCTCCCCCTCCCTCCCTCCTCCCCCTCCCTCCTCCTCCCT CCCCCTCCCTCCTCCTCCCTCCCCCTCCCTCCTCCTCCCTCCCCCTCCCT CCTCCTCCCTCCCCCTCCCTCCCCCTCCCTCCTCCTCCCTCCTC	RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding	6/8			chr6	TogoVar
SATL1_chrX_85087284_85248779	85088071	C C	CGTATTAA others(365): Show CGTATTAATACATATATGTATAAATACGTATTAATACATATATGTATAAA TACATACATATTTATACATATATGTATACATACATATTTATACATATATA TGTATAAATACATACATATTTATACATATATATGTATAAATACATACATA TTTATACATATATATGTATAAATACATACATATTTATACATATATATGTA TAAATACGTACATATTTATACATATATATGTATAAATACGTACATATTTA TACATATATATGTATAAATACGTACATATTTATACATATATATGTATAAA TACGTACATATTTATACATATATATGTATAAATACGTACATATTTATACA TATATGTATAAATACGTACATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0008 a0002c0002t0003g0008	1	232	0.0043	372	c.43 others(383): Show c.4319_*4320insATATGTACGTATTTATACATATATGTATAAATAT GTACGTATTTATACATATATATGTATAAATATGTACGTATTTATACATAT ATATGTATAAATATGTACGTATTTATACATATATATGTATAAATATGTAC GTATTTATACATATATATGTATAAATATGTACGTATTTATACATATATAT GTATAAATATGTATGTATTTATACATATATATGTATAAATATGTATGTAT TTATACATATATATGTATAAATATGTATGTATTTATACATATATATGTAT AAATATGTATGTATACATATATGTATAAATATGTATGTATTTATACATAT ATGTATTAATACGTATTTATACATATATGTATTAATAC	SATL1	ENSG00000184788.14	transcript	ENST00000644105.2	protein_coding		4212		chrX	TogoVar

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