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
IYD_chr6_150364012_150410969	150372412	T T	TTGTGACC others(373): Show TTGTGACCATGCTTATTAGACATGTGTGTGTGTGGGTGAGGTGGGGGGTG GTGAGGGAACATTGTGTGACCATGCTTAATAGACATGTGTGTGTGGGGGT GGGGTGGGGAGTGGTGAGGGGTCATGTTGTGTCCATGCTTATTAGACATG TGTGTGTGGGGGTGGGGTGGGGGGTGGTGAGAGAACATTGTGTGACCATG CTTATTAGACATGTGTGTGTGTGGGGGTGGGGTGGGGAGTGGTGAGGGGT CATGTTGTGTCCATGCTTATTAGACATGTGTGTGTGGGGGTGGGGTGGGG AGTGGTGAGGGGTCATGTTGTGTCCATGCTTATTAGACATGTGTGTGTGG GGGTGGGGTGGGGAGTGGTGAGGGGTCATTG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0025 a0002c0002t0025	a0002c0002t0025g0260 a0002c0002t0025g0260	1	410	0.0024	380	c.178 others(397): Show c.178+3207_178+3208insACCATGCTTATTAGACATGTGTGTGTGT GGGTGAGGTGGGGGGTGGTGAGGGAACATTGTGTGACCATGCTTAATAGA CATGTGTGTGTGGGGGTGGGGTGGGGAGTGGTGAGGGGTCATGTTGTGTC CATGCTTATTAGACATGTGTGTGTGGGGGTGGGGTGGGGGGTGGTGAGAG AACATTGTGTGACCATGCTTATTAGACATGTGTGTGTGTGGGGGTGGGGT GGGGAGTGGTGAGGGGTCATGTTGTGTCCATGCTTATTAGACATGTGTGT GTGGGGGTGGGGTGGGGAGTGGTGAGGGGTCATGTTGTGTCCATGCTTAT TAGACATGTGTGTGTGGGGGTGGGGTGGGGAGTGGTGAGGGGTCATTGTG TG	IYD	ENSG00000009765.15	transcript	ENST00000344419.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
KCNMB2_chr3_178531436_178849429	178758037	T T	TATACACA others(373): Show TATACACAAGAGGATATATATATATACACACAAGAGGATATATATATGTA CACACAAGAGGATATATATATATATATATCCAAGAGGATATATATATATA TATCCAAGAGGATATATATATATATATATATATCCAAGAGGATATATATA TATATATATATATCCAAGAGGATATATATATATATATATATATCCAAGAG GATATATATATATATATATATATCCAAGAGGATATATATATATATATATA TATCCAAGAGGATATATATATATATATATATATCCAAGAGGATATATATA TATATATATATATCCAAGAGGATATATATATATATATATATATCCAAGAG GATATATATATATATATATATATCCAAGAGG	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0177 a0001c0002t0001g0177	1	231	0.0043	380	c.-67 others(399): Show c.-67-49303_-67-49302insCACAAGAGGATATATATATATACACA CAAGAGGATATATATATGTACACACAAGAGGATATATATATATATATATC CAAGAGGATATATATATATATATCCAAGAGGATATATATATATATATATA TATCCAAGAGGATATATATATATATATATATATCCAAGAGGATATATATA TATATATATATATCCAAGAGGATATATATATATATATATATATCCAAGAG GATATATATATATATATATATATCCAAGAGGATATATATATATATATATA TATCCAAGAGGATATATATATATATATATATATCCAAGAGGATATATATA TATATATATATATCCAAGAGGATATATATATATATATATATATCCAAGAG GATA	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758165	G G	GATATATA others(373): Show GATATATATATATATATATCCAAGAGGATATATATATATATATATCCAAG AGGATATATATATATATATCCAAGAGGATATATATATATATATATATCCA AGAGGATATATATATATATATATATCCAAGAGGATATATATATATATATA TATCCAAGAGGATATATATATATATATATCCAAGAGGATATATATATATA TATATATCCAAGAGGATATATATATATATATATATCCAAGAGGATATATA TATATATATATATCCAAGAGGATATATATATATATATATATCCAAGAGGA TATATATATATATATCCAAGAGGATATATATATCTATATATATCCAAGAG GATATATATATCTATATATATCCAAGAGGAT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp1 HG03491.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0003g0230 a0001c0001t0003g0231	2	64	0.0313	380	c.-67 others(399): Show c.-67-49162_-67-49161insATCCAAGAGGATATATATATATATAT ATCCAAGAGGATATATATATATATATCCAAGAGGATATATATATATATAT ATATCCAAGAGGATATATATATATATATATATCCAAGAGGATATATATAT ATATATATATCCAAGAGGATATATATATATATATATCCAAGAGGATATAT ATATATATATATATCCAAGAGGATATATATATATATATATATCCAAGAGG ATATATATATATATATATATCCAAGAGGATATATATATATATATATATCC AAGAGGATATATATATATATATCCAAGAGGATATATATATCTATATATAT CCAAGAGGATATATATATCTATATATATCCAAGAGGATATATATATATAT ATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KSR2_chr12_117448012_117973990	117606397	C C	CTCCCCTC others(373): Show CTCCCCTCCTTCCTCCCTCCCTCCTCTCCTTCCTTCCTCCATCCCCTCCT TCCTTCCTCCCTCCCCTCCTTCCTCCCTCCCTCCTCTCCTTCCTTCCTCC ATCCCCTCCTTCCTTCCTCCCTCCTCTCCTTCCTTCCTCCCTCCTCTCCT TCCTCCCTCCCTCCCCTCCTTCCTCCCTCCCTCCTCTCCTTCCTTCCTCC ATCCCCTCCTTCCTTCCTCCCTCCTCTCCTTCCTTCCTCCCTCCCCTCCT TCCTCCCTCCCTCCCCTCCTTCCTCCCTCCCTCCTCTCCTTCCTTCCTCC CTCCTCTCCTTCCTTCCTCCATCCCCTCCTTCCTTCCTCCCTCCCCTCCT TCCTCCCTCCCTCCTCTCCTTCCTTCCTCCA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01258.hp1 HG01975.hp2 others(9): Show HG01109.hp2 HG01258.hp1 HG01975.hp2 HG02257.hp2 HG02280.hp1 HG03130.hp2 HG03209.hp2 HG03471.hp1 HG03516.hp2 NA18906.hp2 NA19030.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0023 a0001c0001t0032 others(9): Show a0001c0001t0002 a0001c0001t0023 a0001c0001t0032 a0001c0001t0074 a0001c0001t0077 a0001c0001t0083 a0001c0001t0084 a0001c0001t0086 a0001c0003t0005 a0001c0003t0026 a0001c0003t0073 a0001c0003t0098	a0001c0001t0002g0164 a0001c0001t0023g0171 a0001c0001t0032g0025 others(9): Show a0001c0001t0002g0164 a0001c0001t0023g0171 a0001c0001t0032g0025 a0001c0001t0074g0062 a0001c0001t0077g0078 a0001c0001t0083g0137 a0001c0001t0084g0170 a0001c0001t0086g0163 a0001c0003t0005g0059 a0001c0003t0026g0080 a0001c0003t0073g0068 a0001c0003t0098g0133	12	192	0.0625	380	c.117 others(401): Show c.1172-24039_1172-24038insTGGAGGAAGGAAGGAGAGGAGGGA GGGAGGAAGGAGGGGAGGGAGGAAGGAAGGAGGGGATGGAGGAAGGAAGG AGAGGAGGGAGGAAGGAAGGAGAGGAGGGAGGGAGGAAGGAGGGGAGGGA GGGAGGAAGGAGGGGAGGGAGGAAGGAAGGAGAGGAGGGAGGAAGGAAGG AGGGGATGGAGGAAGGAAGGAGAGGAGGGAGGGAGGAAGGAGGGGAGGGA GGGAGGAAGGAGAGGAGGGAGGAAGGAAGGAGAGGAGGGAGGAAGGAAGG AGGGGATGGAGGAAGGAAGGAGAGGAGGGAGGGAGGAAGGAGGGGAGGGA GGAAGGAAGGAGGGGATGGAGGAAGGAAGGAGAGGAGGGAGGGAGGAAGG AGGGGA	KSR2	ENSG00000171435.15	transcript	ENST00000339824.7	protein_coding	5/19			chr12	TogoVar
LAMA5_chr20_62304065_62372312	62360437	G G	GGGGGTGG others(373): Show GGGGGTGGGGTGGGTGCATAGGTAGGGGGGTGGATGGGTCAGCAGGCAGC GGGATGGGATAGGATAGGTGGGTGGGTGGAGGGATAGATGGGTGGTGGGT GGGTGGAGGGATAGATGGGTGGGTGGAGGGATAGATGGGTGGGTGGGTAG AAGGATAGGTAGGTGGGTGGGTGGGTGGATGGATAGGTGGATGGGTGGGT GGAGGGATAGATGGGTGGGTGGAGGGATAGATGGGTGGTGGGTGGGTGGA GGGATAGATGGGTGGTGGGTGGGTGGAGGGATAGATGGGTGGGTGGAGGG ATAGATGGGTGGGTGGGTAGAAGGATAGGTAGGTGGGTGGGTGGGTGGAT GGATAGGTGGATGGGTGGGTGGAGGGATAGA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0059 a0059	a0059c0072 a0059c0072	a0059c0072t0001 a0059c0072t0001	a0059c0072t0001g0158 a0059c0072t0001g0158	1	179	0.0056	380	c.450 others(397): Show c.450+1962_450+1963insTCTATCCCTCCACCCACCCATCCACCTA TCCATCCACCCACCCACCCACCTACCTATCCTTCTACCCACCCACCCATC TATCCCTCCACCCACCCATCTATCCCTCCACCCACCCACCACCCATCTAT CCCTCCACCCACCCACCACCCATCTATCCCTCCACCCACCCATCTATCCC TCCACCCACCCATCCACCTATCCATCCACCCACCCACCCACCTACCTATC CTTCTACCCACCCACCCATCTATCCCTCCACCCACCCATCTATCCCTCCA CCCACCCACCACCCATCTATCCCTCCACCCACCCACCTATCCTATCCCAT CCCGCTGCCTGCTGACCCATCCACCCCCCTACCTATGCACCCACCCCACC CC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	2/79			chr20	TogoVar
LMF1_chr16_848634_975984	953416	C C	CTCCTACA others(373): Show CTCCTACACGTCCACACAGACACCCACTCCAAACCAGCCTCCTGCACGTC CACACAGACACCCACCCCAAACCAGCTTCCTACACGTCCACACAGACACC CACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCACCCCAAACCA GCCTCCTACACGTCCACACAGACACACACCCCACACCAGCTTCCTACACG TCCACACAGACACCCACCCCACACCAGCCTCCTACACGTCCACACAGACA CCCACCCCACACCAGCTTCCTACACGTCCACACAGACACCCACCCCACAC CAGCCTCCTACACGTCCACACAGACACCCACCCCACACCAGCTTCCTACA CGTCCACACAGACACCCACCCCACACCAGCT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0004 a0004	a0004c0027 a0004c0027	a0004c0027t0001 a0004c0027t0001	a0004c0027t0001g0127 a0004c0027t0001g0127	1	281	0.0036	380	c.503 others(395): Show c.503+940_503+941insAGCTGGTGTGGGGTGGGTGTCTGTGTGGAC GTGTAGGAAGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCT GGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAAGCTGGTGTGGGGTGG GTGTCTGTGTGGACGTGTAGGAGGCTGGTGTGGGGTGGGTGTCTGTGTGG ACGTGTAGGAAGCTGGTGTGGGGTGTGTGTCTGTGTGGACGTGTAGGAGG CTGGTTTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTTTGGGGT GGGTGTCTGTGTGGACGTGTAGGAAGCTGGTTTGGGGTGGGTGTCTGTGT GGACGTGCAGGAGGCTGGTTTGGAGTGGGTGTCTGTGTGGACGTGTAGGA	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LRRC23_chr12_6899822_6919229	6909274	T T	TATATATA others(373): Show TATATATAATTATATATAATATATAATTATATATTATATCTAATTATATA TAATATATATATATTATATATATAATAATATATATACAATATATAATTAT ATATTATATAATTATATATAATATATAATTATATATTATATATAATATAT AATTATATATTATATAATAATATATAATCATATATTATTATATAATATAT AATTATATATTATATAATAATATATAATTATTAATATATAATTATATATA ATATATAATTATATATTATATAATAATATATAATTATATATTATATATAA TTATATATTATATAATAACATATAATTATATATAATATATAAATATATAA TATATAAATATATAATATATAAATATATATA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG06807.hp2 HG03471.hp2 HG06807.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0002 a0001c0008t0001g0053 a0001c0008t0001g0002 a0001c0008t0001g0053	2	58	0.0345	380	c.622 others(395): Show c.622-596_622-595insTATAATTATATATTATATCTAATTATATAT AATATATATATATTATATATATAATAATATATATACAATATATAATTATA TATTATATAATTATATATAATATATAATTATATATTATATATAATATATA ATTATATATTATATAATAATATATAATCATATATTATTATATAATATATA ATTATATATTATATAATAATATATAATTATTAATATATAATTATATATAA TATATAATTATATATTATATAATAATATATAATTATATATTATATATAAT TATATATTATATAATAACATATAATTATATATAATATATAAATATATAAT ATATAAATATATAATATATAAATATATATAATATATAATTATATATAATA	LRRC23	ENSG00000010626.15	transcript	ENST00000443597.7	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
LRRC27_chr10_132327193_132386508	132364429	G G	GCTTACAT others(373): Show GCTTACATCTACCTCCACACCCGCGCTTACACCCACCCACACTTACACCC ACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACAC CCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCTTACATCT ACCTCCACACCCACACTCACACCCACCCACACTTACACCCACCCTTACAT CTACCTCCACACCCACACTTACACCCACGCTTACACCCACCCTTACATCT ACCTCCACACCCACACTTACACCCACGCTTACATCTACCTCCACACCCAC ACTCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCC ACACTCACACCCACCCACACTTACACCCACC	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0075 a0001c0001t0039g0075	1	188	0.0053	380	c.129 others(397): Show c.1290-974_1290-973insGCGCTTACACCCACCCACACTTACACCC ACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACAC CCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCTTACATCT ACCTCCACACCCACACTCACACCCACCCACACTTACACCCACCCTTACAT CTACCTCCACACCCACACTTACACCCACGCTTACACCCACCCTTACATCT ACCTCCACACCCACACTTACACCCACGCTTACATCTACCTCCACACCCAC ACTCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCC ACACTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACAC CC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
LSS_chr21_46183446_46233774	46184511	C C	CCAACCCA others(373): Show CCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCACCA CCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCA CCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCAC CCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGG CACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGAT GGGTACTCAGGACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCC TGTGACGGGCACTCAGGACCACCAACAACCCAGTGGGCCGGCCACACCTC CAGCCCTGTGATGGGTACTCAGGACCACCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	111	0.0090	380	c.65 others(391): Show c.6592_*6593insTTGGTGGTCCTGAGTACCCATCACAGGGCTGGAG GTGTGGCCGGCCCACTGGGTTGTTGGTGGTCCTGAGTGCCCGTCACAGGG CTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTCCTGAGTACCCATC ACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCC GTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTG CCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGG GTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGG TGGGTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTG	LSS	ENSG00000160285.15	transcript	ENST00000397728.8	protein_coding		3934		chr21	TogoVar
LSS_chr21_46183446_46233774	46184511	C C	CCAACCCA others(373): Show CCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCACCA CCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCA CCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGATGGGCAC CCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGG CACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGAT GGGTACTCAGGACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCC TGTGACGGGCACTCAGGACCACCAACAACCCAGTGGGCCGGCCACACCTC CAGCCCTGTGATGGGTACTCAGGACCACCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp2 HG04115.hp1 HG04115.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0218 a0003c0003t0001g0226 a0003c0003t0001g0218 a0003c0003t0001g0226	2	112	0.0179	380	c.65 others(391): Show c.6592_*6593insTTGGTGGTCCTGAGTACCCATCACAGGGCTGGAG GTGTGGCCGGCCCACTGGGTTGTTGGTGGTCCTGAGTGCCCGTCACAGGG CTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTCCTGAGTACCCATC ACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCC GTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTG CCCATCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGG GTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGG TGGGTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTG	LSS	ENSG00000160285.15	transcript	ENST00000397728.8	protein_coding		3934		chr21	TogoVar
LSS_chr21_46183446_46233774	46184716	A A	AGGACCAC others(373): Show AGGACCACCAACAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGG GCACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGA TGGGCACCCACCACCACCACCATCCCAGTGGGCCGGCCACACCTCCAGCC CTGTGATGGGTACTCAGGACCACCAACAACCCAGTGGGCCGGCCACACCT CCAGCCCTGTGACGGGCACCCACCACCACCATCCCAGTGGGCCGGCCACA CCTCCAGCCCTGTGATGGGTACTCAGGACCACCACCAACCCAGTGGGCCG GCCACACCTCCAGCCCTGTGACGGGCACCCACCACCACCAACCCAGTGGG CCGGCCACACCTCCAGCCCTGTGACGGGCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG01361.hp1 HG01981.hp2 others(8): Show HG00099.hp1 HG01361.hp1 HG01981.hp2 HG02630.hp1 HG02683.hp1 HG02735.hp2 HG02896.hp1 HG03239.hp1 HG03688.hp1 HG04184.hp1 NA19043.hp1	a0001 a0003 a0001 a0003	a0001c0006 a0003c0003 a0001c0006 a0003c0003	a0001c0006t0007 a0003c0003t0001 a0001c0006t0007 a0003c0003t0001	a0001c0006t0007g0250 a0001c0006t0007g0251 a0003c0003t0001g0034 others(6): Show a0001c0006t0007g0250 a0001c0006t0007g0251 a0003c0003t0001g0034 a0003c0003t0001g0035 a0003c0003t0001g0207 a0003c0003t0001g0208 a0003c0003t0001g0209 a0003c0003t0001g0210 a0003c0003t0001g0211	11	356	0.0309	380	c.63 others(391): Show c.6387_*6388insGTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCC ACTGGGTTGGTGGTGGTGGGTGCCCGTCACAGGGCTGGAGGTGTGGCCGG CCCACTGGGTTGGTGGTGGTCCTGAGTACCCATCACAGGGCTGGAGGTGT GGCCGGCCCACTGGGATGGTGGTGGTGGGTGCCCGTCACAGGGCTGGAGG TGTGGCCGGCCCACTGGGTTGTTGGTGGTCCTGAGTACCCATCACAGGGC TGGAGGTGTGGCCGGCCCACTGGGATGGTGGTGGTGGTGGGTGCCCATCA CAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCG TCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGTTGGTGGTCC	LSS	ENSG00000160285.15	transcript	ENST00000397728.8	protein_coding		3729		chr21	TogoVar
MAD1L1_chr7_1810795_2237945	1930522	T T	TGCCACGT others(373): Show TGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCCCGTCC CCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCCC GTCCCCACTGCCACGTCCCCTCATCCCGTCCCCACTGCCACGTCCCCTCG CCCCGTCCCCACTGCCACAACCCCTCATCCCGTCCCCTACTGCCACATCC CACCACCACGTCCACACTGCCACGTCCCCTCGCCCCATCCCCCACTGCCA CGTCCCCTCATCCCGTCCCCACTGCCACAACCCCTCATCCCGTCCCCTAC TGCCACATCCCACCACCACGTCCACACTGCCATGTCCCCTCGCCCCATCC CCCTGCCACGTCCGCTTACCCCATACCCACC	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18967.hp1 NA18948.hp2 NA18967.hp1	a0002 a0002	a0002c0002 a0002c0005 a0002c0002 a0002c0005	a0002c0002t0001 a0002c0005t0001 a0002c0002t0001 a0002c0005t0001	a0002c0002t0001g0052 a0002c0005t0001g0192 a0002c0002t0001g0052 a0002c0005t0001g0192	2	11	0.1818	380	c.180 others(399): Show c.1807+6164_1807+6165insGGTGGGTATGGGGTAAGCGGACGTGG CAGGGGGATGGGGCGAGGGGACATGGCAGTGTGGACGTGGTGGTGGGATG TGGCAGTAGGGGACGGGATGAGGGGTTGTGGCAGTGGGGACGGGATGAGG GGACGTGGCAGTGGGGGATGGGGCGAGGGGACGTGGCAGTGTGGACGTGG TGGTGGGATGTGGCAGTAGGGGACGGGATGAGGGGTTGTGGCAGTGGGGA CGGGGCGAGGGGACGTGGCAGTGGGGACGGGATGAGGGGACGTGGCAGTG GGGACGGGGCGAGGGGACGTGGCAGTGGGGACGGGGCGAGGGGACGTGGC AGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGACGGGGCGAGGGGACG TGGC	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MALRD1_chr10_19043801_19739478	19238066	T T	TATAATTA others(373): Show TATAATTATATGTAATTTTATATGGTTATATATAATTATACGTAGTTTTA CATAGTTATATAGTTATAACTATATGTAGTTATATATAATTATAATTATA TATAATTTATATACTTATAAATATGTAATTATATATGTTATAATTATAAA TATATATAATATAAATATACAATACATTTTATATAATATATAATATATAG TATAATACAAAATATACATTATAATATATTATAATATATAATATATAATA CATATATTATATAAAAATACCATAATATATAATAATATATATTATTATAT ATAATATATAATAATATATTATAATATATATTATAATATAGTATAATATA TATATTATAATTTATACTATATATAATATAA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0081 a0081	a0081c0086 a0081c0086	a0081c0086t0001 a0081c0086t0001	a0081c0086t0001g0011 a0081c0086t0001g0011	1	66	0.0152	380	c.299 others(401): Show c.2992-19616_2992-19615insAATTATATGTAATTTTATATGGTT ATATATAATTATACGTAGTTTTACATAGTTATATAGTTATAACTATATGT AGTTATATATAATTATAATTATATATAATTTATATACTTATAAATATGTA ATTATATATGTTATAATTATAAATATATATAATATAAATATACAATACAT TTTATATAATATATAATATATAGTATAATACAAAATATACATTATAATAT ATTATAATATATAATATATAATACATATATTATATAAAAATACCATAATA TATAATAATATATATTATTATATATAATATATAATAATATATTATAATAT ATATTATAATATAGTATAATATATATATTATAATTTATACTATATATAAT ATAAAT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	18/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MBNL3_chrX_132364320_132494038	132396705	T T	TATATAGA others(373): Show TATATAGATTCATATATATATATTCATATATAGATTCATATATAGATTCA TATATATATTCATATATAGATTCATATATAGATTCATATATATTCATATA TATATTCATATATATTCATATATATTCATATATATATTCATATATATTCA TATATATTCATATATATATTCATATATATATTCATATATATATTCATATA TATATTCATATATATTCATATATATATTCATATATATATTCATATATATT CATATATATATTCATATATATATTCATATATATATTCATATATATATTCA TATATATATTCATATATATATTCATATATATATTCATATATATATTCATA TATATTCATATATATATTCATATATATATTC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0099 a0001c0001t0005g0099	1	155	0.0065	380	c.343 others(397): Show c.343-4372_343-4371insGAATATATATATGAATATATATATGAAT ATATATGAATATATATATGAATATATATATGAATATATATATGAATATAT ATATGAATATATATATGAATATATATATGAATATATATATGAATATATAT ATGAATATATATGAATATATATATGAATATATATATGAATATATATGAAT ATATATATGAATATATATATGAATATATATATGAATATATATATGAATAT ATATGAATATATATGAATATATATATGAATATATATGAATATATATGAAT ATATATATGAATATATATGAATCTATATATGAATCTATATATGAATATAT ATATGAATCTATATATGAATCTATATATGAATATATATATATGAATCTAT AT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MEGF6_chr1_3482951_3616508	3502017	G G	GCCTCACA others(373): Show GCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCACACCTCCTCACATGGG CTCCTGGCGAGTGTGCCCCCCGTGCCTCACATGGGCTCCTGGCGAGTGTG CCCCCCGTGCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGCCTCCTCA CATGGGCTCCTGGCGAGTGTGCCCCCCGCGCCTCCTCACATGGGCTCCTG GCGAGTGTGCCCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGC CCCCCCGGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCGCGC CTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCCCGCGCCTCCTCACA TGGGCTCCTGGCGAGTGTGCCCCCCACGCCT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00733.hp1 HG01081.hp2 others(3): Show HG00099.hp2 HG00733.hp1 HG01081.hp2 HG01256.hp1 HG01258.hp1 HG03239.hp2	a0001 a0013 a0001 a0013	a0001c0001 a0013c0018 a0001c0001 a0013c0018	a0001c0001t0001 a0001c0001t0025 a0013c0018t0001 a0001c0001t0001 a0001c0001t0025 a0013c0018t0001	a0001c0001t0001g0042 a0001c0001t0001g0175 a0001c0001t0001g0183 others(3): Show a0001c0001t0001g0042 a0001c0001t0001g0175 a0001c0001t0001g0183 a0001c0001t0025g0137 a0001c0001t0025g0138 a0013c0018t0001g0181	6	37	0.1622	380	c.218 others(395): Show c.2189-97_2189-96insAGGCGTGGGGGGCACACTCGCCAGGAGCCC ATGTGAGGAGGCGCGGGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGA GGCGCGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCCGGGGG GGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGGGCACACTCG CCAGGAGCCCATGTGAGGAGGCGCGGGGGGCACACTCGCCAGGAGCCCAT GTGAGGAGGCGGGGGGCACACTCGCCAGGAGCCCATGTGAGGCACGGGGG GCACACTCGCCAGGAGCCCATGTGAGGCACGGGGGGCACACTCGCCAGGA GCCCATGTGAGGAGGTGTGGGGGGCACACTCGCCAGGAGCCCATGTGAGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	17/36			chr1	TogoVar
MLPH_chr2_237482251_237560322	237544349	T T	TGGGGGGA others(373): Show TGGGGGGACAGTGGTGAGTGGGCACAGTAGTGAGTGGGGGGACAGTGGTG AGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGGACAGTGG TGAGTGGGCACGGTAGTGAGTGGGGGGACAGTGGCAAGTGGGCACAGTGG TGAGTGGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGGGACAG TGGTGAGTGGGCACGGTAGTGAGTGGGGGGACAGTGGTGAGTGGGGACAG TGGTGAGTGGGCACGGTAGTGAGTGGGGGCACAGTGGTGAGTGGGGACAG TGGTGAGTTGGGGGACAGTGGTGAGTGGGTGCACGGTAGTGAGTCGGGGG ACAGTGGTGAGTGGGGGAACAGTGGTGAGTG	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0057 a0002c0002t0002g0057	1	228	0.0044	380	c.153 others(399): Show c.1539+1694_1539+1695insGGACAGTGGTGAGTGGGCACAGTAGT GAGTGGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTG GTGAGTGGGGGGACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGGGACAG TGGCAAGTGGGCACAGTGGTGAGTGGGGACAGTGGTGAGTGGAGGGGACA GTGGTGAGTGGGGGGACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGGGA CAGTGGTGAGTGGGGACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGGCA CAGTGGTGAGTGGGGACAGTGGTGAGTTGGGGGACAGTGGTGAGTGGGTG CACGGTAGTGAGTCGGGGGACAGTGGTGAGTGGGGGAACAGTGGTGAGTG GGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MROH1_chr8_144143016_144266926	144203090	G G	GGGGGGGA others(373): Show GGGGGGGAGCGCCCGCTGTCTGTGGAGGGGCGGGGGGGGGGAGCGCCCGC TGTCTGTGGAGGGGCGGGGGGAGGGGAGCGCCCGCTCTCTGTGGAGGGGC GGGGAGGGGAGCGCCCGCTGTCTGTGGAGGGGCGGGGGGGGTCTGTGGAG GGGCGGGGGGGGGGAGCGCCCGCTGTCTGTGGAGGGGCGGGGGGGGGGGA GCGCCCGCTGTCTGTGGAGGGGCGGGGGGGGAAGCGCCCGCTGTCTGTGG AGCGGGGGGGAGCGCCCGCTGTCTGTGGAGGGGCGGGGGGGGGGAGCGCC CGCTGTCTGTGGAGGGGCGGGGGGGGGAAGCGCCCGCTGTCTGTGGAGGG GCGGGGGGGGAAGCGCCCGCTGTCTGTGGAT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0058 a0002c0008t0001g0058	1	131	0.0076	380	c.114 others(399): Show c.1141+2555_1141+2556insAGCGCCCGCTGTCTGTGGAGGGGCGG GGGGGGGGAGCGCCCGCTGTCTGTGGAGGGGCGGGGGGAGGGGAGCGCCC GCTCTCTGTGGAGGGGCGGGGAGGGGAGCGCCCGCTGTCTGTGGAGGGGC GGGGGGGGTCTGTGGAGGGGCGGGGGGGGGGAGCGCCCGCTGTCTGTGGA GGGGCGGGGGGGGGGGAGCGCCCGCTGTCTGTGGAGGGGCGGGGGGGGAA GCGCCCGCTGTCTGTGGAGCGGGGGGGAGCGCCCGCTGTCTGTGGAGGGG CGGGGGGGGGGAGCGCCCGCTGTCTGTGGAGGGGCGGGGGGGGGAAGCGC CCGCTGTCTGTGGAGGGGCGGGGGGGGAAGCGCCCGCTGTCTGTGGATGG GGGG	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MROH2A_chr2_233773330_233838418	233787914	A A	ATATATAC others(373): Show ATATATACATATATATTATATATATACATATATATTATATATACATATAT ATTATATATACATATATATTATATATATACATATATATTATATATACATA TATATTATATATACATATATATTATATATATACATATATATTATATATAC ATATATATTATATATATACATATATATTATATATACATATATATTATATA TACATATATATTATATATATACATATATATTATATATACATATATATTAT ATATACACATATATATTATATATACATATATATTATATATACATATATAT TATATATACATATATATTATATATACATATATTATATATACATATATATT ATATATACATATATTATATATACATATATAT	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0006 a0006	a0006c0033 a0006c0033	a0006c0033t0001 a0006c0033t0001	a0006c0033t0001g0060 a0006c0033t0001g0060	1	339	0.0029	380	c.277 others(397): Show c.277-1577_277-1576insCATATATATTATATATATACATATATAT TATATATACATATATATTATATATACATATATATTATATATATACATATA TATTATATATACATATATATTATATATACATATATATTATATATATACAT ATATATTATATATACATATATATTATATATATACATATATATTATATATA CATATATATTATATATACATATATATTATATATATACATATATATTATAT ATACATATATATTATATATACACATATATATTATATATACATATATATTA TATATACATATATATTATATATACATATATATTATATATACATATATTAT ATATACATATATATTATATATACATATATTATATATACATATATATTATA TA	MROH2A	ENSG00000185038.15	transcript	ENST00000389758.4	protein_coding	3/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
MSH4_chr1_75791882_75918242	75885916	A A	ATATATAT others(373): Show ATATATATGATGTATTATTTAGCATATATAGTATATATGATGTATTATAT AGCATATATAGTATATATGATGTATTATATATAGCATGTATAGTATATAT GATGTATTATATATAGCATGTATAGTATATATGATGTATTATATATAGCA TGTATAGTATATATGATGTATTATATATAGCATGTATAGTATATATGATG TATTATATATAGCATGTATAGTATATATGATGTATTATATATAGCATGTA TAGTATATATGATGTATTATATATAGCATGTATAGTATATATGATGTATT ATATATAGCATGTATAGTATATATGATGTATTATATATAGCATGTATAGT ATATATGATGTATTATATATAGCATGTATAG	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0277 a0001c0002t0001g0277	1	238	0.0042	380	c.210 others(399): Show c.2107+2112_2107+2113insTTAGCATATATAGTATATATGATGTA TTATATAGCATATATAGTATATATGATGTATTATATATAGCATGTATAGT ATATATGATGTATTATATATAGCATGTATAGTATATATGATGTATTATAT ATAGCATGTATAGTATATATGATGTATTATATATAGCATGTATAGTATAT ATGATGTATTATATATAGCATGTATAGTATATATGATGTATTATATATAG CATGTATAGTATATATGATGTATTATATATAGCATGTATAGTATATATGA TGTATTATATATAGCATGTATAGTATATATGATGTATTATATATAGCATG TATAGTATATATGATGTATTATATATAGCATGTATAGTATATATGATGTA TTAT	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	15/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
MSLN_chr16_755734_773862	767711	G G	GGCGTGGA others(373): Show GGCGTGGAGGAGGGGCGTGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGG GGGGGCGTGGAGGGGGGTGCGTGGAGGAGGGGCGCATGGGGGGGTGTGGA GGGGGGCGCGTGGAGGGGGCACGTGGAGGGGTCGCGTGGAGGAGGGGCGC GTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGG CGCGTGGGGGGGTGTGGAGGGGGGCGCGTGGGGGTGTGTGGGGGGGGCAC GTGGAGGGGGGCGTGTGGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAG GGGCGCGTGGAGGGGGGAGCGTGGGGGGCGTGGAGGAGGGGCGCGTGGAG GGGGCCGTGTGGGGGGGGCGTGGAGGGGGGC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	109	0.0092	380	c.159 others(397): Show c.1596+253_1596+254insGGCGTGTGGAGGGGGGCGCGTGGGGGGG GCGCATGGGGGGGGCGTGGAGGGGGGTGCGTGGAGGAGGGGCGCATGGGG GGGTGTGGAGGGGGGCGCGTGGAGGGGGCACGTGGAGGGGTCGCGTGGAG GAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGCGT GGAGGGGGGCGCGTGGGGGGGTGTGGAGGGGGGCGCGTGGGGGTGTGTGG GGGGGGCACGTGGAGGGGGGCGTGTGGGGGGGTGCGTGGAGGAGGGGCGC GTGGAGGAGGGGCGCGTGGAGGGGGGAGCGTGGGGGGCGTGGAGGAGGGG CGCGTGGAGGGGGCCGTGTGGGGGGGGCGTGGAGGGGGGCGCGTGGAGGA GG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSR1_chr8_16102881_16197651	16189541	T T	TTATATAT others(373): Show TTATATATATAAAATCTTATTTTATATATTATATATATAAAATCTTATTT TATATATTATATATATATAAAATCTTATTTTATATATATTTTATATATAT AAAATCTTATTTTATATATATTTTATATATATAAAATCTTATTTTATATA TATTTTATATATATAAAATCTTATTTTATATATATTTTATATATATAAAA TCTTATTTTATATATATTTTATATATATAAAATCTTATTTTATATATATT TTATATATATAAAATCTTATTTTATATATATTTTATATATATAAAATCTT ATTTTATATATATTTTATATATATAAAATCTTATTTTATATATATTTTAT ATATATTTTATATATATAAAATCTTATTTTA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	1	254	0.0039	380	c.-5+ others(395): Show c.-5+3056_-5+3057insTAAAATAAGATTTTATATATATAAAATATA TATAAAATATATATAAAATAAGATTTTATATATATAAAATATATATAAAA TAAGATTTTATATATATAAAATATATATAAAATAAGATTTTATATATATA AAATATATATAAAATAAGATTTTATATATATAAAATATATATAAAATAAG ATTTTATATATATAAAATATATATAAAATAAGATTTTATATATATAAAAT ATATATAAAATAAGATTTTATATATATAAAATATATATAAAATAAGATTT TATATATATAAAATATATATAAAATAAGATTTTATATATATATAATATAT AAAATAAGATTTTATATATATAATATATAAAATAAGATTTTATATATATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MTTP_chr4_99569824_99628997	99589009	A A	ACATATAT others(373): Show ACATATATATGTTCATATATATACTCATATATATATGTTCATATATATAC TCATATATATGTTCATATATATACTCATATATATGTTCATATATATACTC ATATATATGTTCATATATATACTCATATATATGTTCATATATATACTCAT ATATATGTTCATATATATACTCATATATATGTTCATATATATTCATATAT ATGTTCATATATATATTCATATATATGTTCATATATATATTCATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATATGTT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0126 a0005c0005t0001g0126	1	347	0.0029	380	c.394 others(395): Show c.394-611_394-610insTCATATATATATGTTCATATATATACTCAT ATATATGTTCATATATATACTCATATATATGTTCATATATATACTCATAT ATATGTTCATATATATACTCATATATATGTTCATATATATACTCATATAT ATGTTCATATATATACTCATATATATGTTCATATATATTCATATATATGT TCATATATATATTCATATATATGTTCATATATATATTCATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATGTTCATATATATAC	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MYRIP_chr3_39804609_40265321	40084517	G G	GTAGATAA others(373): Show GTAGATAATACACATCTATGTATTATCTATCGGTAGATAATACACATCTA TGTATTATCTATCGGTAGATAATACACATCTATGTATTATCTATCGGTAG ATAATACACATCTATGTATTATCTATCGGTAGATAATACACATCTATGTA TTATCTATCGGTAGATAATACACATCTATGTATTATCTATCGATAGATAA TACACATCTATGTATTATCTATCGATAGATAATACACATCTATGTATTAT CTATCGATAATACACATCTATGTATTATCTATCGATAGATAATACACATC TATGTATTATCTATCGATAGATAATACACATCTATGTATTATCTATCGAT AGATAATACACATCTATGTATTATCTATCGA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	3	0.3333	380	c.332 others(399): Show c.332+40271_332+40272insCTATCGGTAGATAATACACATCTATG TATTATCTATCGGTAGATAATACACATCTATGTATTATCTATCGGTAGAT AATACACATCTATGTATTATCTATCGGTAGATAATACACATCTATGTATT ATCTATCGGTAGATAATACACATCTATGTATTATCTATCGATAGATAATA CACATCTATGTATTATCTATCGATAGATAATACACATCTATGTATTATCT ATCGATAATACACATCTATGTATTATCTATCGATAGATAATACACATCTA TGTATTATCTATCGATAGATAATACACATCTATGTATTATCTATCGATAG ATAATACACATCTATGTATTATCTATCGATAGATAATACACATCTATGTA TTAT	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
NCAPG2_chr7_158626169_158709804	158648807	C C	CCAAATGG others(373): Show CCAAATGGACTACAACCACGGCAAATGGACTACAACCACGCCAAATGGAC TACAACCACGCCAAATGGACTACAACCACGCCAAATGGACTACAACCACG CCAAATGGACTACAACCACGCCAAATGGACTACAACCACGCCAAATGGAC TACAACCACGCCAAATGGACTACAACCACGCCAAATGGACTACAACCACG CCAAATGGACTACAACCACGCCAAATGGACTACAACCACGCCAAATGGAC TACAACCACGCCAAATGGACTACAACCACGCCAAATGGACTACAACCACG CCAAATGGACTATAACCACGCCAAATGGACTATAACCACGGCAAATGGAC TATAACCACGCCAAATGGACTACAACCACGG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03540.hp2 HG02818.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0353 a0001c0001t0001g0354 a0001c0001t0001g0353 a0001c0001t0001g0354	2	354	0.0056	380	c.307 others(399): Show c.3075+2024_3075+2025insCCGTGGTTGTAGTCCATTTGGCGTGG TTATAGTCCATTTGCCGTGGTTATAGTCCATTTGGCGTGGTTATAGTCCA TTTGGCGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGGCGTGG TTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTCCA TTTGGCGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGGCGTGG TTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTCCA TTTGGCGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGGCGTGG TTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGCCGTGGTTGTAGTCCA TTTG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	24/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158667983	T T	TCCTTACC others(373): Show TCCTTACCGACCCTGGGTCCCTCCGCCCCCCCTTACCCACTACTGGGTCC CTCTGCCCTCCTTACCTACCTTGTGTCCCTAGGCCCTCCCTTACCCACTA CTGGGTCCCTCCGCCCTCCCTTACCCACAACTGGGTCCCTTCGCCCTCCC TTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTC CGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTG GGTCCCTCCGCCCTCCCTTACCCACAACTGGGTCCCTCCGCCCGCCTTAC CCACTACTGGGTCCCTCCGCCCTCCTTACCCACAACTGGGTCCCTCCGCC CGCCTTACCCACTACTGGGTCCCTCCGCCCG	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0184 a0001c0004t0002g0184	1	257	0.0039	380	c.148 others(399): Show c.1480-3234_1480-3233insCGGGCGGAGGGACCCAGTAGTGGGTA AGGCGGGCGGAGGGACCCAGTTGTGGGTAAGGAGGGCGGAGGGACCCAGT AGTGGGTAAGGCGGGCGGAGGGACCCAGTTGTGGGTAAGGGAGGGCGGAG GGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGC GGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTG GGTAAGGGAGGGCGAAGGGACCCAGTTGTGGGTAAGGGAGGGCGGAGGGA CCCAGTAGTGGGTAAGGGAGGGCCTAGGGACACAAGGTAGGTAAGGAGGG CAGAGGGACCCAGTAGTGGGTAAGGGGGGGCGGAGGGACCCAGGGTCGGT AAGG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NDUFA3_chr19_54097855_54112568	54109797	C C	CTCCACCC others(373): Show CTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCCGGCC CTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCCGGCCCTCCCTCAGTCC CAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCC CCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCTCTCCACCCGG CCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCCGGCCCTCCCTCAGT CCCAGTGCTCAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAG CCCTCTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCC GGCCCTCCCTCAGTCCCAGCGCACAGCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 NA19083.hp1 HG02451.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0001 a0001c0001t0001g0019	2	185	0.0108	380	c.28 others(391): Show c.2895_*2896insTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAGC CCTCTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCCG GCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAG TCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACA GCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACC CGGCCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCCGGCCCTCCCTC AGTCCCAGTGCTCAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGTGCT CAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCT	NDUFA3	ENSG00000170906.16	transcript	ENST00000485876.6	protein_coding		2230		chr19	TogoVar
NEU4_chr2_241804193_241822413	241805257	C C	CTCAGCCC others(373): Show CTCAGCCCAGGGACGTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGG GACCTCTGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCCTCCCTCCCCCCTCAACCCAGGGACGTCTGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAAC CCAGGGACGTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTC TGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACT CTCCCCTCTTAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGGACCTCTGCAGGCCACTCTCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0056 a0002c0003t0002g0056	1	316	0.0032	380	c.-40 others(391): Show c.-4021_-4020insTCAGCCCAGGGACGTCTGCAGGCCACCCTCCCTC CCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACGTCTG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCT CCCTCCCCCCTCAACCCAGGGACGTCTGCAGGCCACCCTCCCTCCCCCCT CAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGA CCTCTGCAGGCCACTCTCCCCTCTTAGCCCAGGGACCTCTGCAGGCCACC CTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACTCTCCCCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3935		chr2	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTATAT others(373): Show CTGTATATATGTACAGCATGTATACTGTGTACAGCATGTATACTGTGTAC AGCATGTATACTGTATGTATGTATACTGTATGTATGTATACTGTATGTAT GTATACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGT ATACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGTAT ACCGTATATATACACAGTATGTATACTGTGTATGCAGTATGTATACAGTA TACATACTGCATGCAGTATGTATACTGTATACATACTGCATGCAGTATGT ATACTGTATATATACACTATACAGTATGTATACTGTATATATACACTATA CAGTATGTATACTGTATATATACACACAGTA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0109 a0001c0001t0008g0109	1	118	0.0085	380	c.-75 others(399): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTATAGTGTATATATACAGTATACATACTGTATAGTGTATATATAC AGTATACATACTGCATGCAGTATGTATACAGTATACATACTGCATGCAGT ATGTATACTGTATACATACTGCATACACAGTATACATACTGTGTATATAT ACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATAC GGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGG TATACATACATACAGTATACATACATACAGTATACATACATACAGTATAC ATGCTGTACACAGTATACATGCTGTACACAGTATACATGCTGTACATATA TACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NLGN1_chr3_173392744_174299372	174086282	T T	TACATATA others(373): Show TACATATATATATTTATGTATGTGCATACATATATATATTTATGTATGTG CATACATATATATATTTATGTATGTGCATACATATATATATTTATGTATG TGCATACATATATATATTTATGTATGTGCATACATATATATATTTATGTA TGTGCATACATATATATATTTATGTATGTGCATACATATATATTTATGTA TGTGCATAAATATATATATATTTATGTATGTGCATAAATATATATATTTA TGTATGTGCATAAATATATATATATTTATGTATGTGCATAAATATATATA TATATTTATGTATGTGCATAAATATATATATATATTTATGTATGTGCATA AATATATATATATATTTATGTATGTGCATAA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	30	0.0333	380	c.707 others(401): Show c.707-189032_707-189031insCATATATATATTTATGTATGTGCA TACATATATATATTTATGTATGTGCATACATATATATATTTATGTATGTG CATACATATATATATTTATGTATGTGCATACATATATATATTTATGTATG TGCATACATATATATATTTATGTATGTGCATACATATATATATTTATGTA TGTGCATACATATATATTTATGTATGTGCATAAATATATATATATTTATG TATGTGCATAAATATATATATTTATGTATGTGCATAAATATATATATATT TATGTATGTGCATAAATATATATATATATTTATGTATGTGCATAAATATA TATATATATTTATGTATGTGCATAAATATATATATATATTTATGTATGTG CATAAA	NLGN1	ENSG00000169760.18	transcript	ENST00000695368.1	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
NLRP4_chr19_55831540_55886855	55850152	A A	AGACTGCG others(373): Show AGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGT GTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCG AGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGT GTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCG TAGCTGCGGTGTGATTTCCGTAGCTGCGGTGTGATTTCCGTAGCTGCGGT GTGATTTCCGTAGCTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCG AGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGT GGGATTTCCGTGACTGCGGTGGGATTTCCGT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0344 a0001c0001t0010g0344	1	343	0.0029	380	c.-65 others(397): Show c.-65-1863_-65-1862insACTGCGGTGTGATTTCCGAGACTGCGGT GTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCG AGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGT GTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCG AGACTGCGGTGTGATTTCCGTAGCTGCGGTGTGATTTCCGTAGCTGCGGT GTGATTTCCGTAGCTGCGGTGTGATTTCCGTAGCTGCGGTGTGATTTCCG AGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGT GTGATTTCCGAGACTGCGGTGGGATTTCCGTGACTGCGGTGGGATTTCCG TG	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP4_chr19_55831540_55886855	55850163	T T	TGATTTCC others(373): Show TGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGA GACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTG TGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGA GACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGTAGCTGCGGTG TGATTTCCGTAGCTGCGGTGTGATTTCCGTAGCTGCGGTGTGATTTCCGT AGCTGCGGTGTGATTTCCGTAGCTGCGGTGTGATTTCCGAGACTGCGGTG TGATTTCCGAGACTGCGGTGGGATTTCCGAGACTGCGGTGGGATTTCCGT GACTGCGGTGGGATTTCCGTGACTGCGGTGG	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0326 a0001c0001t0028g0326	1	416	0.0024	380	c.-65 others(397): Show c.-65-1853_-65-1852insGATTTCCGAGACTGCGGTGTGATTTCCG AGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGT GTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCG AGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGT GTGATTTCCGTAGCTGCGGTGTGATTTCCGTAGCTGCGGTGTGATTTCCG TAGCTGCGGTGTGATTTCCGTAGCTGCGGTGTGATTTCCGTAGCTGCGGT GTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGGGATTTCCG AGACTGCGGTGGGATTTCCGTGACTGCGGTGGGATTTCCGTGACTGCGGT GG	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9			chr19	TogoVar
NME4_chr16_392199_405754	397707	T T	TGTGGGGG others(373): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGG GGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGTGGGG GGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGG TGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGG GAGTTGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	157	0.0064	380	c.91+ others(393): Show c.91+432_91+433insGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGG GTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAG GGAGTTGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGT GGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGGGTGAGGGA GTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NT5C1A_chr1_39646229_39677107	39664492	T T	TCTCCTCC others(373): Show TCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCTCTCCCCTCCCCTCCCACCCTCCCCCC CTCCCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCC CTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTC CCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCT CCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCTCTCCC CTTCCCCTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTC CCCCTTCCCCTTCCCTCTCCCCTTCCCCTCC	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0190 a0001c0001t0002g0190	1	206	0.0049	380	c.433 others(397): Show c.433+1028_433+1029insGGAGGGGAAGGGGAGAGGGAAGGGGAAG GGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGG AAGGGGAGAGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAG GGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGA GGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGG AAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAGGGGAAGGG GAGGGGGGGAGGGTGGGAGGGGAGGGGAGAGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG AG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
OR1B1_chr9_122623125_122662627	122657277	T T	TAAATCTT others(373): Show TAAATCTTTACCACAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGG GACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAAC AAAAAACCAAACACCACATATTCTCACTCATAGGTGGGAATTGAACAATG AGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTG GGGTTGGGGGAGGGGGGAGGATAGCATTGGGAGATATACCTAATGCTAGA TGACACGTTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGT AACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAA AAAAAAAAAAAATTATAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0004 a0005c0007t0004	a0005c0007t0004g0256 a0005c0007t0004g0256	1	375	0.0027	380	c.-43 others(397): Show c.-438+254_-438+255insTTTTTTTTTTTTTTTATAATTTTTTTTT TTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTA GTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAACGTG TCATCTAGCATTAGGTATATCTCCCAATGCTATCCTCCCCCCTCCCCCAA CCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGA TCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGTGGTGTTTGGTTT TTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCAT GTCCCTACAAAGGACATGAACTCATCATTTTTTATGGCTGTGGTAAAGAT TT	OR1B1	ENSG00000280094.3	transcript	ENST00000623530.2	protein_coding	1/1			chr9	TogoVar
OR1B1_chr9_122623125_122662627	122657277	T T	TAAATCTT others(373): Show TAAATCTTTACCACAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGG GACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAAC AAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATG AGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTG GGGTTGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAG ATGACACGTTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATG TAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATA AAAAAAAAAAAAATTATAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19088.hp1 NA19081.hp2 NA19088.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0235 a0001c0005t0001g0236 a0001c0005t0001g0235 a0001c0005t0001g0236	2	376	0.0053	380	c.-43 others(397): Show c.-438+254_-438+255insTTTTTTTTTTTTTTATAATTTTTTTTTT TTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAG TTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAACGTGT CATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCAA CCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGA TCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTT TTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCAT GTCCCTACAAAGGACATGAACTCATCATTTTTTATGGCTGTGGTAAAGAT TT	OR1B1	ENSG00000280094.3	transcript	ENST00000623530.2	protein_coding	1/1			chr9	TogoVar
OR1B1_chr9_122623125_122662627	122657277	T T	TAAATCTT others(373): Show TAAATCTTTACCACAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGG GACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAAC AAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATG AGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTG GGGTTGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAG ATGACACGTTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATG TAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATA AAAAAAAAAAAATTATAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01975.hp2 HG02071.hp1 others(1): Show HG01433.hp2 HG01975.hp2 HG02071.hp1 NA19005.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0005 a0003c0003 a0005c0006 a0001c0005 a0003c0003 a0005c0006	a0001c0005t0001 a0003c0003t0003 a0005c0006t0005 a0001c0005t0001 a0003c0003t0003 a0005c0006t0005	a0001c0005t0001g0239 a0001c0005t0001g0240 a0003c0003t0003g0238 others(1): Show a0001c0005t0001g0239 a0001c0005t0001g0240 a0003c0003t0003g0238 a0005c0006t0005g0237	4	378	0.0106	380	c.-43 others(397): Show c.-438+254_-438+255insTTTTTTTTTTTTTTTATAATTTTTTTTT TTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAG TTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAACGTGT CATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCAA CCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGA TCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTT TTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCAT GTCCCTACAAAGGACATGAACTCATCATTTTTTATGGCTGTGGTAAAGAT TT	OR1B1	ENSG00000280094.3	transcript	ENST00000623530.2	protein_coding	1/1			chr9	TogoVar
OR1L1_chr9_122656716_122667648	122657277	T T	TAAATCTT others(373): Show TAAATCTTTACCACAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGG GACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAAC AAAAAACCAAACACCACATATTCTCACTCATAGGTGGGAATTGAACAATG AGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTG GGGTTGGGGGAGGGGGGAGGATAGCATTGGGAGATATACCTAATGCTAGA TGACACGTTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGT AACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAA AAAAAAAAAAAATTATAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0000 a0002c0003t0001g0000	1	412	0.0024	380	c.-44 others(391): Show c.-4439_-4438insAAATCTTTACCACAGCCATAAAAAATGATGAGTT CATGTCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTA AACTATCGCAAGAACAAAAAACCAAACACCACATATTCTCACTCATAGGT GGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACT CTGGGGACTGTGGTGGGGTTGGGGGAGGGGGGAGGATAGCATTGGGAGAT ATACCTAATGCTAGATGACACGTTAGTGGGTGCAGCGCACCAGCATGGCA CATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAA CTTAGAGTATAATAAAAAAAAAAAAAATTATAAAAAAAAAAAAAAA	OR1L1	ENSG00000173679.2	transcript	ENST00000309623.1	protein_coding		4438		chr9	TogoVar
OR1L1_chr9_122656716_122667648	122657277	T T	TAAATCTT others(373): Show TAAATCTTTACCACAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGG GACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAAC AAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATG AGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTG GGGTTGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAG ATGACACGTTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATG TAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATA AAAAAAAAAAAAATTATAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19081.hp1 NA19088.hp1 NA19081.hp1 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0000 a0002c0003t0001g0000 a0001c0001t0001g0000 a0002c0003t0001g0000	2	413	0.0048	380	c.-44 others(391): Show c.-4439_-4438insAAATCTTTACCACAGCCATAAAAAATGATGAGTT CATGTCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTA AACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGT GGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACT CTGGGGACTGTGGTGGGGTTGGGGGAGGGGGGAGGGATAGCATTGGGAGA TATACCTAATGCTAGATGACACGTTAGTGGGTGCAGCGCACCAGCATGGC ACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAA ACTTAGAGTATAATAAAAAAAAAAAAAATTATAAAAAAAAAAAAAA	OR1L1	ENSG00000173679.2	transcript	ENST00000309623.1	protein_coding		4438		chr9	TogoVar
OR1L1_chr9_122656716_122667648	122657277	T T	TAAATCTT others(373): Show TAAATCTTTACCACAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGG GACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAAC AAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATG AGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTG GGGTTGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAG ATGACACGTTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATG TAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATA AAAAAAAAAAAATTATAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 HG01975.hp1 HG02071.hp2 others(1): Show HG01433.hp1 HG01975.hp1 HG02071.hp2 NA19005.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0000 a0002c0003t0001g0000 a0001c0001t0001g0000 a0002c0003t0001g0000	4	415	0.0096	380	c.-44 others(391): Show c.-4439_-4438insAAATCTTTACCACAGCCATAAAAAATGATGAGTT CATGTCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTA AACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGT GGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACT CTGGGGACTGTGGTGGGGTTGGGGGAGGGGGGAGGGATAGCATTGGGAGA TATACCTAATGCTAGATGACACGTTAGTGGGTGCAGCGCACCAGCATGGC ACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAA ACTTAGAGTATAATAAAAAAAAAAAAATTATAAAAAAAAAAAAAAA	OR1L1	ENSG00000173679.2	transcript	ENST00000309623.1	protein_coding		4438		chr9	TogoVar
PARD3_chr10_34104561_34820296	34665840	A A	AACACAGA others(373): Show AACACAGAACAGAACAGAACAGAACAGAAGAGAACAGAACAGAAGAGAAC AGAACAGAAGAGAACAGAACAGAAGAGAACAGAACAGAAGAGAACAGAAG AGAACAGAAGAGAACAGAACAGAACAGAACAGAACAGAACAGAACAGAAC AGAACAGAACAGAACAGAACAGAAAACAGAACAGAACAGAAAACAGAACA GAACAGAAAACAGAACAGAACAGAAAACAGAACAGAACAGAAAACAGAAC AGAACAGAAAACAGAACAGAACAGAACAGAACAGAACAGAACAGAACAGA ACAGAACAGAACAGAACAGAACAGAACAGAACAACAGAACAGAACAACAG AACAGAACAACAGAACAGAACAGAACAGAAC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0060 a0001c0002t0020g0060	1	28	0.0357	380	c.222 others(399): Show c.222+30477_222+30478insGTTCTGTTCTGTTCTGTTCTGTTGTT CTGTTCTGTTGTTCTGTTCTGTTGTTCTGTTCTGTTCTGTTCTGTTCTGT TCTGTTCTGTTCTGTTCTGTTCTGTTCTGTTCTGTTCTGTTCTGTTTTCT GTTCTGTTCTGTTTTCTGTTCTGTTCTGTTTTCTGTTCTGTTCTGTTTTC TGTTCTGTTCTGTTTTCTGTTCTGTTCTGTTTTCTGTTCTGTTCTGTTCT GTTCTGTTCTGTTCTGTTCTGTTCTGTTCTGTTCTGTTCTGTTCTCTTCT GTTCTCTTCTGTTCTCTTCTGTTCTGTTCTCTTCTGTTCTGTTCTCTTCT GTTCTGTTCTCTTCTGTTCTGTTCTCTTCTGTTCTGTTCTGTTCTGTTCT GTGT	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	2/24			chr10	TogoVar
PATJ_chr1_61737480_62168915	62137609	G G	GGACACAG others(373): Show GGACACAGAGTGAGGGGGGACAGAGGCCTGAGGGGGAAATGCCTCCGGAG GGGGGGGACACAGAGTGAGGGGGGACAGAGGCCTGAGGGGGAAATGCCTC CGGAGGGGGGAACACAGAGTGAGGGGGGACAGAGGCCTGAGGGGGAAATG CCTCCGGAGGGGGGAACACAGAGTGAGGGGGGACAGAGGCCTGAGGGGGA AATGCCTCCGGAGGGGGGAACACAGAGTGAGGGGGGACAGAGGCCTGAGA GGGAAATGTCTCTGGAGGGGGAAACACAGAGTGAAGGGGGACAGAGGCCT GAGAGGGAAATGCCTCCGGAGGGGGGAACACAGAGTGAGGGGGGACAGAG GCCTGAGGGGGAAATGCCTCCGGAGGGGGGA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0016 a0016	a0016c0121 a0016c0121	a0016c0121t0003 a0016c0121t0003	a0016c0121t0003g0136 a0016c0121t0003g0136	1	4	0.2500	380	c.527 others(399): Show c.5271+8664_5271+8665insGACACAGAGTGAGGGGGGACAGAGGC CTGAGGGGGAAATGCCTCCGGAGGGGGGGGACACAGAGTGAGGGGGGACA GAGGCCTGAGGGGGAAATGCCTCCGGAGGGGGGAACACAGAGTGAGGGGG GACAGAGGCCTGAGGGGGAAATGCCTCCGGAGGGGGGAACACAGAGTGAG GGGGGACAGAGGCCTGAGGGGGAAATGCCTCCGGAGGGGGGAACACAGAG TGAGGGGGGACAGAGGCCTGAGAGGGAAATGTCTCTGGAGGGGGAAACAC AGAGTGAAGGGGGACAGAGGCCTGAGAGGGAAATGCCTCCGGAGGGGGGA ACACAGAGTGAGGGGGGACAGAGGCCTGAGGGGGAAATGCCTCCGGAGGG GGGA	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	41/43			chr1	TogoVar
PCED1A_chr20_2830314_2845655	2842868	A A	AGATAGAT others(373): Show AGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	321	0.0031	380	c.-26 others(391): Show c.-2680_-2679insGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATC TATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTA TCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATC GATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTA TCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATC	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2214		chr20	TogoVar
PCSK6_chr15_101298933_101494707	101311636	T T	TCCCTCAC others(373): Show TCCCTCACAGCCCACCACATCATCACACCCTCACAGCTCACCCCATCATT ACACCCTCACAGCCCGCCCCATCATCACCCCTCACAGCCCACCCCATCGT CACCCCTCACAGCTCACCCCATCATCACCCCTCACAGCTCACCCCATCGT CACCCCTCACAGCCCACCCCATCGTCACACCCTCACAGCCCACCCCATCG TCACACCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATC GTCACACCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCAT CGTCACCCCTCACAGCCCACCCCATCATCACCCCTCACAGCTCACCCCAT CGTCACCCCTCACAGCCCACCCCATCGTCAC	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0002 a0001c0012t0002	a0001c0012t0002g0124 a0001c0012t0002g0124	1	261	0.0038	380	c.269 others(399): Show c.2699+1739_2699+1740insGTGACGATGGGGTGGGCTGTGAGGGG TGACGATGGGGTGAGCTGTGAGGGGTGATGATGGGGTGGGCTGTGAGGGG TGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGGT GTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGG TGTGACGATGGGGTGGGCTGTGAGGGTGTGACGATGGGGTGGGCTGTGAG GGGTGACGATGGGGTGAGCTGTGAGGGGTGATGATGGGGTGAGCTGTGAG GGGTGACGATGGGGTGGGCTGTGAGGGGTGATGATGGGGCGGGCTGTGAG GGTGTAATGATGGGGTGAGCTGTGAGGGTGTGATGATGTGGTGGGCTGTG AGGG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PDIA6_chr2_10778391_10817785	10806628	C C	CAAAGAAA others(373): Show CAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAAAAGAAAA GAAAAAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0158 a0002c0002t0001g0158	1	202	0.0050	380	c.20- others(395): Show c.20-3989_20-3988insTTCTTTCTTTCTTTCTTTCTTTCTTTTTTT CTTTTCTTTTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	PDIA6	ENSG00000143870.13	transcript	ENST00000272227.8	protein_coding	1/12			chr2	TogoVar
PEX26_chr22_18072990_18110396	18106703	A A	ATACGTAG others(373): Show ATACGTAGTTCCAGTCGGAGTCTGAAGCCTGAGATCCAGGAGAGCTGAGG ACATGGTTCCAGTCTGAATCTGAAGCCCGAGACCCAGGAGAGCTGATGGT GTGGTTCCAGTCTGACTCTGAAGCCTGAGACCCACGAGAGCTGAAGACGT GGTTCCAGTCTGAGTCTGAAGCCTGAGACCCACGAGAGCTGAAGACGTGG TTCCAGTCTGAGTCTGAAGCCTGAGACCCAGGAGAGCTGAAGATGTGGTT TCAGTCTGTCTGAAGCCTGAGACCCAGCAGAGCTGAAGACGTAGTTCCAG TCTGAGTCTGAAGCCTGAGACCCAGGAGAGCTGAAGATGTGGTTTCAGTC TGTCTGAAGCCTGAGACCCAGGAGAGCTGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0128 a0001c0001t0128	a0001c0001t0128g0152 a0001c0001t0128g0152	1	396	0.0025	380	c.18 others(393): Show c.18628_*18629insTACGTAGTTCCAGTCGGAGTCTGAAGCCTGAG ATCCAGGAGAGCTGAGGACATGGTTCCAGTCTGAATCTGAAGCCCGAGAC CCAGGAGAGCTGATGGTGTGGTTCCAGTCTGACTCTGAAGCCTGAGACCC ACGAGAGCTGAAGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCAC GAGAGCTGAAGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCAGGA GAGCTGAAGATGTGGTTTCAGTCTGTCTGAAGCCTGAGACCCAGCAGAGC TGAAGACGTAGTTCCAGTCTGAGTCTGAAGCCTGAGACCCAGGAGAGCTG AAGATGTGGTTTCAGTCTGTCTGAAGCCTGAGACCCAGGAGAGCTGAT	PEX26	ENSG00000215193.14	transcript	ENST00000399744.8	protein_coding		1308		chr22	TogoVar
PKP3_chr11_389209_409908	401878	G G	GGCCCCGC others(373): Show GGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGGCC CCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCT CACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCAC ACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCC GGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGGC CCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGC TCACACCCGGCCCCGCTCACACCCCGCCCCGCTCACCCCCAGCCCCGCTC ACACCCGCCCCGCTCACCCCCGGCCCCGCTC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0145 a0001c0002t0001g0145	1	175	0.0057	380	c.173 others(399): Show c.1737+1173_1737+1174insGCCCCGCTCACACCCGCCCCGCTCAC ACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCC GCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCC CGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCT CACACCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCAC ACCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACC CGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCCGC CCCGCTCACCCCCAGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCC GCTC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12			chr11	TogoVar
PLEC_chr8_143910153_143944597	143928664	C C	CAGCGGGT others(373): Show CAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTATC ACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTGCA ACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAGTA GACAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTA TCACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTG CAACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAG TAGACAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCC TATCACTGTGCTGGTTCTGTGAGGAGTAGAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02622.hp2 HG02922.hp1 HG02145.hp1 HG02622.hp2 HG02922.hp1	a0025 a0056 a0025 a0056	a0025c0023 a0056c0078 a0025c0023 a0056c0078	a0025c0023t0003 a0056c0078t0003 a0025c0023t0003 a0056c0078t0003	a0025c0023t0003g0052 a0025c0023t0003g0098 a0056c0078t0003g0053 a0025c0023t0003g0052 a0025c0023t0003g0098 a0056c0078t0003g0053	3	214	0.0140	380	c.326 others(397): Show c.3260+438_3260+439insATCTACTCCTCACAGAACCAGCACAGTG ATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCGCTGT CTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTTCCTGTG TTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGAACCAGCACAG TGATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCGCT GTCTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTTCCTG TGTTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGAACCAGCAC AGTGATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCG CT	PLEC	ENSG00000178209.17	transcript	ENST00000345136.8	protein_coding	25/31			chr8	TogoVar
PLEC_chr8_143910153_143978529	143928664	C C	CAGCGGGT others(373): Show CAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTATC ACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTGCA ACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAGTA GACAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTA TCACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTG CAACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAG TAGACAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCC TATCACTGTGCTGGTTCTGTGAGGAGTAGAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02622.hp2 HG02922.hp1 HG02145.hp1 HG02622.hp2 HG02922.hp1	a0025 a0053 a0025 a0053	a0025c0020 a0053c0067 a0025c0020 a0053c0067	a0025c0020t0003 a0053c0067t0003 a0025c0020t0003 a0053c0067t0003	a0025c0020t0003g0092 a0025c0020t0003g0093 a0053c0067t0003g0091 a0025c0020t0003g0092 a0025c0020t0003g0093 a0053c0067t0003g0091	3	169	0.0178	380	c.321 others(397): Show c.3218+438_3218+439insATCTACTCCTCACAGAACCAGCACAGTG ATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCGCTGT CTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTTCCTGTG TTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGAACCAGCACAG TGATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCGCT GTCTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTTCCTG TGTTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGAACCAGCAC AGTGATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCG CT	PLEC	ENSG00000178209.17	transcript	ENST00000356346.7	protein_coding	25/31			chr8	TogoVar
PLPP2_chr19_276043_296403	291612	G G	GGGGGGGA others(373): Show GGGGGGGACGGCAGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGGG GAGGGCAGCAGGGGAGGGGGAGGAGGGGAGGGGCGGGGAGGGGAGGGGAG GAGGGAGGGGGAGGGGAGGAGGGAGGGGGGACGGCAGCGGCGGGCAGGGG AGCGGCGGGCGGGGCGGGGAGGAGGGGAGGGAGGGGAAGGGGAGGAGGGG GGGAGGGGAGGGGAGGAAGGCGGGGACGGCAGCGGCGGGCAGGGGAGCAG CGGGCGGGGCGGGGAGGAGGGGAGGGTTAGGGGCGGGGAGGGGAGGAGGG AGGGGGAGGGGAGGAGGGGCGGGGAGGGGAGAGGGGGGAGGGGAGGAGGG AGGGGGAGGGGAGGGGGGAGGGGAGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0018	1	113	0.0088	380	c.-27 others(389): Show c.-277_-276insTCCCTCCTCCCCTCCCCCCTCCCCTCCCCCTCCCTC CTCCCCTCCCCCCTCTCCCCTCCCCGCCCCTCCTCCCCTCCCCCTCCCTC CTCCCCTCCCCGCCCCTAACCCTCCCCTCCTCCCCGCCCCGCCCGCTGCT CCCCTGCCCGCCGCTGCCGTCCCCGCCTTCCTCCCCTCCCCTCCCCCCCT CCTCCCCTTCCCCTCCCTCCCCTCCTCCCCGCCCCGCCCGCCGCTCCCCT GCCCGCCGCTGCCGTCCCCCCTCCCTCCTCCCCTCCCCCTCCCTCCTCCC CTCCCCTCCCCGCCCCTCCCCTCCTCCCCCTCCCCTGCTGCCCTCCCCTC CCCGCCCCGCCCGCCGCTCCCCTGCCCGCCGCTGCCGTCCCCCC	PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding		210		chr19	TogoVar
PRDM16_chr1_3064203_3443621	3162861	C C	CTCTAGAG others(373): Show CTCTAGAGGGCTTTGGGAGAGGGGATGTGCGCAGAAGCCCCCGGCTCTAG AGGGCTTTGGGAGAGGGGATGTGCGCAGAAGCCCCTGGCATGGTCTAGAG GGCTTTGGGAGAGGGGATGTCCGCAGAAGCCCCTGGCATGGTCTAGAGGG CTTTGGGAGAGGGGATGTCCGCAGAAGCCCCTGGCATGGTCTAGAGGGCT TTGGGAGAGGGGATGTGCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTT GGGAGAGGGGATGTGCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGG GAGAGGGGATGTGCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGA GAGGGGATGTGCGCAGAAGCCCCTGGCATGG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02922.hp1 HG02280.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0082 a0001c0001t0011 a0001c0001t0082	a0001c0001t0011g0022 a0001c0001t0082g0067 a0001c0001t0011g0022 a0001c0001t0082g0067	2	151	0.0132	380	c.38- others(397): Show c.38-23224_38-23223insCGGCTCTAGAGGGCTTTGGGAGAGGGGA TGTGCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATG TCCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTC CGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTGCG CAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTGCGCA GAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTGCGCAGA AGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTGCGCAGAAG CCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTGCGCAGAAGCC CC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar

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