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
GABRA3_chrX_152161234_152456315	152182738	C C	CACTATAT others(444): Show CACTATATATACACTATATATGTATAGTATATATACACTATATATAGTAT ATATACACTATATATATAGTGTATATACACTATATATATAGTATATATAC ACTATATATATAGTATATATACACTATATATACACTATATATGTATATAT ATACATATATAGTGTATATATAGTGTATATATACACTGTATATGTATATA TAGTGTATATATACACTATATATACACTGTATATGTATATATAGTGTATA TATACACTATACACTGTATATGTATATATAGTGTATATATACACTATACA CTGTATATGTATATATAGTGTATATATACACTATACACTGTATATGTATA TATAGTGTATACACTATACACTGTATATGTATATATAGTGTATATATACA CTATATATACACTATATAGTGTATATATAGTATATATATACTGTATATAT AT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02257.hp2 HG06807.hp1 others(1): Show HG01109.hp1 HG02257.hp2 HG06807.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0194 a0001c0001t0002g0064 a0001c0001t0002g0065 others(1): Show a0001c0001t0001g0194 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0072	4	204	0.0196	451	c.114 others(470): Show c.1143+6991_1143+6992insATATATATACAGTATATATATACTAT ATATACACTATATAGTGTATATATAGTGTATATATACACTATATATACAT ATACAGTGTATAGTGTATACACTATATATACATATACAGTGTATAGTGTA TATATACACTATATATACATATACAGTGTATAGTGTATATATACACTATA TATACATATACAGTGTATAGTGTATATATACACTATATATACATATACAG TGTATATATAGTGTATATATACACTATATATACATATACAGTGTATATAT ACACTATATATACACTATATATGTATATATATACATATATAGTGTATATA TAGTGTATATATACTATATATATAGTGTATATATACTATATATATAGTGT ATATACACTATATATATAGTGTATATATACTATATATAGTGTATATATAC TATACATATATAGTGTATATATAGT	GABRA3	ENSG00000011677.13	transcript	ENST00000370314.9	protein_coding	9/9			chrX	TogoVar
GALNT9_chr12_132191372_132334589	132240997	C C	CAGGGCCC others(444): Show CAGGGCCCTCCCTATCCCCATTACACACACACCACACCCCCTTCCCGGGG CCCTCCCTATACCCATTTACACACACGCCACGCCCCCTTCCCGGGGCCCT CCCTATACCCATTACACACACGCCACACCCCCTTCCCGGGGCCCTCCCTA TACCCATTACACACACAACACACACCCTTCCAGGGGCCCTCCCTATACCC ATTACACACACGCCACACCCCCTTCCCGGGGCCCTCCCTATACCCATTAC ACACACAACACACACCCTTCCCGGGGCCCTCCCTATACCCATTACACACA CGCCACGCCCCCTTCCCGGGGCCCTCCCTATACCCATTACACACACGCCA CACCCCCTTCCCGGGGCCCTCCCTATACCCATTACACACACGCCACACAC CCTTCCCGGGGCCCTCCCTATACCCATTACACACACAACACACACCCTTC CA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0081 a0001c0002t0001g0081	1	183	0.0055	451	c.107 others(470): Show c.1077+6912_1077+6913insTGGAAGGGTGTGTGTTGTGTGTGTAA TGGGTATAGGGAGGGCCCCGGGAAGGGTGTGTGGCGTGTGTGTAATGGGT ATAGGGAGGGCCCCGGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGG GAGGGCCCCGGGAAGGGGGCGTGGCGTGTGTGTAATGGGTATAGGGAGGG CCCCGGGAAGGGTGTGTGTTGTGTGTGTAATGGGTATAGGGAGGGCCCCG GGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCTGGAAG GGTGTGTGTTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGGGT GTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGGGCGTGGC GTGTGTGTAAATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGGTGTGT GTGTAATGGGGATAGGGAGGGCCCT	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALR1_chr18_77244848_77282900	77258950	C C	CATGGTGG others(444): Show CATGGTGGTCATGGTGGCGATTGTGGTGATGGTGGATGGTGGTGGTGGTC ACAGTGGTGGTGGTGTTGGTGGTGGTCATGGTGGTCATGGTGGTGATGAC GGTGGTGATGATGGTGGTCATGGTGGCGATTGTGGTGATGGTGGTGGATG GTGGTGGTGGTCACAGTGGTGGTGGTGTTGGTGTTGGTGGTGGTCATGGT GGTTATGGTGGTGATGATGGTCATGGTGGTGATGATGGTGATCATGGTGG TGATGGTGGTGATGGTGGTGGATGGTGGTGGTGGTCACAGTGGTGGTGGT GTTGGTGGTGGTCATGGTGGTCATGGTGGTGATGATGGTGGTCATGGTGG CGATTGTGGTGATGGTGGTGGATGGTGGTGGTGGTCACAGTGGTGGTGAT GTTGGTGTTGGTGGTGGTCATGGTGGTCATGGTGGTGATGACGGTGATGA TG	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0058 a0001c0001t0016g0058	1	366	0.0027	451	c.732 others(468): Show c.732+2761_732+2762insATGGTGGTGGTGGTCACAGTGGTGGTGG TGTTGGTGGTGGTCATGGTGGTCATGGTGGTGATGACGGTGGTGATGATG GTGGTCATGGTGGCGATTGTGGTGATGGTGGTGGATGGTGGTGGTGGTCA CAGTGGTGGTGGTGTTGGTGTTGGTGGTGGTCATGGTGGTTATGGTGGTG ATGATGGTCATGGTGGTGATGATGGTGATCATGGTGGTGATGGTGGTGAT GGTGGTGGATGGTGGTGGTGGTCACAGTGGTGGTGGTGTTGGTGGTGGTC ATGGTGGTCATGGTGGTGATGATGGTGGTCATGGTGGCGATTGTGGTGAT GGTGGTGGATGGTGGTGGTGGTCACAGTGGTGGTGATGTTGGTGTTGGTG GTGGTCATGGTGGTCATGGTGGTGATGACGGTGATGATGATGGTGGTCAT GGTGGCGATTGTGGTGATGGTGG	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GKAP1_chr9_83734425_83822769	83804543	C C	CCGGCCAG others(444): Show CCGGCCAGCCGCCCCATCCAGGAGGGAGGTGGGGGGGGTCAGCCCCCCGC CTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGGTCCAGCCCCCCG CCCGGCCAGCCGCCCCGTACGGGAGGGAGGTGGGGTCAGCCCCCCGCCGG GCCAGCCACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCT ACTGGGAAGTGAGGAGCCCCACTGCCTGGTCAGCCGCCCCATCCGGGAGG GAGGTGGGGGGGTCAGCACCCCACCCGGCCAGCCGCCCCATCCGGGAGGG AGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCGTCCGGGAGGTG AGGGGCGCCTCTGCCCGGCCACCCCTACTGGGAAGTGAGGAGCCCCTCTG CT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA21309.hp1 NA20805.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0136 a0001c0001t0001g0137	2	336	0.0060	451	c.216 others(468): Show c.216+1758_216+1759insAGCAGAGGGGCTCCTCACTTCCCAGTAG GGGTGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGCCG GGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGG GTGGGGTGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGACCAGG CAGTGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGTGGCTGGCCCGGCGGGGGGCTGACCCCACCTCCC TCCCGTACGGGGCGGCTGGCCGGGCGGGGGGCTGGACCCCCCCCACCTCC CTCCCGGATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCCACCTCC CTCCTGGATGGGGCGGCTGGCCG	GKAP1	ENSG00000165113.13	transcript	ENST00000376371.7	protein_coding	3/12			chr9	TogoVar
GLIS1_chr1_53501239_53744164	53525463	A A	AGGCTGGG others(444): Show AGGCTGGGGAGGCTGGGAGGTTGGGGGTGCTGGGAGTCTGGGGAGGCTGG GGAGGTGGGGGGCTGGGGAGGCTGGGGAGGTGGAGGCTGGGGAGGTGGGG AGGCTGGGGGCTGGGGGGCTGGGGAGGCTGGGGAGGTGGGGGGCTGGGGA GGCTGGGGAGGTGGGGGGCTGGGAAGGCTGGGGAGGTGGGGGGCTAAGAA GGCTGGGGGGCTGGGGTGCTGGGGAGGCTGGGGAGGTGGGGGCTGGGGAG GCTGGGGGGCTGGGGCGCTGGGGAGGCTGGGGAGGCTGGGGGTGCTGGGC AGGCTGAGGAGGTGGGGAGGCTGGGGGGGCAAGGGGTGGGGGAGGTAGGG AGGCTGGGGAGGCTGGGGGCGGGGGAGTCTGGGGAGGCTGGGGGGGTGGG GGGCTAGGAGGTGGGGGAGGCGGGGAGGCTGGGGAGGCTGGGGGGGCTGG GG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0181 a0001c0001t0010g0181	1	236	0.0042	451	c.148 others(468): Show c.1483-577_1483-576insCCCCAGCCCCCCCAGCCTCCCCAGCCTC CCCGCCTCCCCCACCTCCTAGCCCCCCACCCCCCCAGCCTCCCCAGACTC CCCCGCCCCCAGCCTCCCCAGCCTCCCTACCTCCCCCACCCCTTGCCCCC CCAGCCTCCCCACCTCCTCAGCCTGCCCAGCACCCCCAGCCTCCCCAGCC TCCCCAGCGCCCCAGCCCCCCAGCCTCCCCAGCCCCCACCTCCCCAGCCT CCCCAGCACCCCAGCCCCCCAGCCTTCTTAGCCCCCCACCTCCCCAGCCT TCCCAGCCCCCCACCTCCCCAGCCTCCCCAGCCCCCCACCTCCCCAGCCT CCCCAGCCCCCCAGCCCCCAGCCTCCCCACCTCCCCAGCCTCCACCTCCC CAGCCTCCCCAGCCCCCCACCTCCCCAGCCTCCCCAGACTCCCAGCACCC CCAACCTCCCAGCCTCCCCAGCC	GLIS1	ENSG00000174332.6	transcript	ENST00000628545.2	protein_coding	5/10			chr1	TogoVar
GLIS1_chr1_53501239_53744164	53525463	A A	AGGCTGGG others(444): Show AGGCTGGGGAGGCTGGGGAGGTTGGGGGTGCTGGGAGTCTGGGGAGGCTG GGGAGGCTGGGGAGGTGGAGGCTGGGGAGGTGGGGGGCTGGGGAGGCTGG GGAGGTGGAGGCTGGGGAGGTGGGGAGGCTGGGGGCTGGGGGGCTGGGGA GGCTGGGGAGGTGGGGGGCTGGGGAGGCTGGGGAGGTGGGGGGCTAAGAA GGCTGGGGGGCTGGGGTGCTGGGGAGGCTGGGGAGGTGGGGGCTGGGGAG GCTGGGGGGCTGGGGCGCTGGGGAGGCTGGGGAGGCTGGGGGTGCTGGGC AGGCTGAGGAGGTGGGGAGGCTGGGGGAGCAAGGGGTGGGGGAGGTAGGG AGGCTGGGGAGGCTGGGGGCGGGGGAGTCTGGGGAGGCTGGGGGGGTGGG GGGCTAGGAGGTGGGGGAGGCGGGGAGGCTGGGGAGGCTGGGGGGGCTGG GG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0101 a0001c0001t0004g0101	1	236	0.0042	451	c.148 others(468): Show c.1483-577_1483-576insCCCCAGCCCCCCCAGCCTCCCCAGCCTC CCCGCCTCCCCCACCTCCTAGCCCCCCACCCCCCCAGCCTCCCCAGACTC CCCCGCCCCCAGCCTCCCCAGCCTCCCTACCTCCCCCACCCCTTGCTCCC CCAGCCTCCCCACCTCCTCAGCCTGCCCAGCACCCCCAGCCTCCCCAGCC TCCCCAGCGCCCCAGCCCCCCAGCCTCCCCAGCCCCCACCTCCCCAGCCT CCCCAGCACCCCAGCCCCCCAGCCTTCTTAGCCCCCCACCTCCCCAGCCT CCCCAGCCCCCCACCTCCCCAGCCTCCCCAGCCCCCCAGCCCCCAGCCTC CCCACCTCCCCAGCCTCCACCTCCCCAGCCTCCCCAGCCCCCCACCTCCC CAGCCTCCACCTCCCCAGCCTCCCCAGCCTCCCCAGACTCCCAGCACCCC CAACCTCCCCAGCCTCCCCAGCC	GLIS1	ENSG00000174332.6	transcript	ENST00000628545.2	protein_coding	5/10			chr1	TogoVar
GOLT1A_chr1_204193163_204218988	204195224	T T	TACACACA others(444): Show TACACACACATCATACACACACACACCACACACATATATACGCACACACC CATACACACACACACCACACACACCACACATGCACACCACACACATATAC ACACATACACCCACACACACACATCATACACACACACACCACACACATAC ACCACACACACCACACATGCACACACACCACACACATATATACGCATACA CCCATACACACATCATACACACACCACACACACCACACATGCACACCACA CACATACACGCATACACCCATACACACACATCATACACACACACACCACA CACACCACACACATATACGCATACACCCATACACACACATCATACACACA CATACACCACACACACCACACACGCACACCACACACACACACATACACCC ATGCACACACATCATACACACACAAACCACACATACCACACACATACACC AC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	414	0.0024	451	c.32 others(462): Show c.3233_*3234insGTGGTGTATGTGTGTGGTATGTGTGGTTTGTGTG TGTATGATGTGTGTGCATGGGTGTATGTGTGTGTGTGTGGTGTGCGTGTG TGGTGTGTGTGGTGTATGTGTGTGTATGATGTGTGTGTATGGGTGTATGC GTATATGTGTGTGGTGTGTGTGGTGTGTGTGTGTATGATGTGTGTGTATG GGTGTATGCGTGTATGTGTGTGGTGTGCATGTGTGGTGTGTGTGGTGTGT GTATGATGTGTGTATGGGTGTATGCGTATATATGTGTGTGGTGTGTGTGC ATGTGTGGTGTGTGTGGTGTATGTGTGTGGTGTGTGTGTGTATGATGTGT GTGTGTGGGTGTATGTGTGTATATGTGTGTGGTGTGCATGTGTGGTGTGT GTGGTGTGTGTGTGTATGGGTGTGTGCGTATATATGTGTGTGGTGTGTGT GTGTATGATGTGTGTGT	GOLT1A	ENSG00000174567.8	transcript	ENST00000308302.4	protein_coding		2938		chr1	TogoVar
GOLT1A_chr1_204193163_204218988	204195224	T T	TACACACA others(444): Show TACACACACATCATACACACACACACCACACACATATATACGCACACACC CATACACACACACACCACACACACCACACATGCACACCACACACATATAC ACACATACACCCATACACACACATCATACACACACACACCACACACATAC ACCACACACACCACACATGCACACACACCACACACATATATACGCATACA CCCATACACACATCATACACACACCACACACACCACACATGCACACCACA CACATACACGCATACACCCATACACACACATCATACACACACACACCACA CACACCACACACATATACGCATACACCCATACACACACATCATACACACA CATACACCACACACACCACACACGCACACCACACACATATACACACATAC ACCCATGCACACACATCATACACAAACCACACATACCACACACATACACC AC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 NA19030.hp1 NA21309.hp1 HG02922.hp1 NA19030.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0230 a0001c0001t0001g0300 a0001c0001t0001g0152 a0001c0001t0001g0230 a0001c0001t0001g0300	3	414	0.0073	451	c.32 others(462): Show c.3233_*3234insGTGGTGTATGTGTGTGGTATGTGTGGTTTGTGTA TGATGTGTGTGCATGGGTGTATGTGTGTATATGTGTGTGGTGTGCGTGTG TGGTGTGTGTGGTGTATGTGTGTGTATGATGTGTGTGTATGGGTGTATGC GTATATGTGTGTGGTGTGTGTGGTGTGTGTGTGTATGATGTGTGTGTATG GGTGTATGCGTGTATGTGTGTGGTGTGCATGTGTGGTGTGTGTGGTGTGT GTATGATGTGTGTATGGGTGTATGCGTATATATGTGTGTGGTGTGTGTGC ATGTGTGGTGTGTGTGGTGTATGTGTGTGGTGTGTGTGTGTATGATGTGT GTGTATGGGTGTATGTGTGTATATGTGTGTGGTGTGCATGTGTGGTGTGT GTGGTGTGTGTGTGTATGGGTGTGTGCGTATATATGTGTGTGGTGTGTGT GTGTATGATGTGTGTGT	GOLT1A	ENSG00000174567.8	transcript	ENST00000308302.4	protein_coding		2938		chr1	TogoVar
GOLT1A_chr1_204193163_204218988	204195224	T T	TACACACA others(444): Show TACACACACATCATACACACACACACCACACATATACGCACACACCCATA CACACACACACCACACACACCACACATGCACACCACACACATATACACAC ATACACCCATACACACACATCATACACACACACACCACACACATACACCA CACACACCACACATGCACACACACCACACACATATATACGCATACACCCA TACACACATCATACACACACCACACACACCACACATGCACACCACACACA TACACGCATACACCCATACACACACATCATACACACACACACCACACACA CCACACACATATACGCATACACCCATACACACACATCATACACACACATA CACCACACACACCACACACGCACACCACACACATATACACACATACACCC ATGCACACACATCATACACACACAAACCACACATACCACACACATACACC AC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0286 a0001c0001t0001g0286	1	414	0.0024	451	c.32 others(462): Show c.3233_*3234insGTGGTGTATGTGTGTGGTATGTGTGGTTTGTGTG TGTATGATGTGTGTGCATGGGTGTATGTGTGTATATGTGTGTGGTGTGCG TGTGTGGTGTGTGTGGTGTATGTGTGTGTATGATGTGTGTGTATGGGTGT ATGCGTATATGTGTGTGGTGTGTGTGGTGTGTGTGTGTATGATGTGTGTG TATGGGTGTATGCGTGTATGTGTGTGGTGTGCATGTGTGGTGTGTGTGGT GTGTGTATGATGTGTGTATGGGTGTATGCGTATATATGTGTGTGGTGTGT GTGCATGTGTGGTGTGTGTGGTGTATGTGTGTGGTGTGTGTGTGTATGAT GTGTGTGTATGGGTGTATGTGTGTATATGTGTGTGGTGTGCATGTGTGGT GTGTGTGGTGTGTGTGTGTATGGGTGTGTGCGTATATGTGTGGTGTGTGT GTGTATGATGTGTGTGT	GOLT1A	ENSG00000174567.8	transcript	ENST00000308302.4	protein_coding		2938		chr1	TogoVar
GTPBP6_chrX_299759_323796	315827	C C	CACACAAA others(444): Show CACACAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACACAC ACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAA CACATACACACGCAGACACACACACACACACACACACACACAGTAAATAC ATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAAACAC AGTAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACA CACACACACACAAACACACAGTAAATACATCCCGACAGGGACAGACACAG ACACACACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGA CACAAACACATACACACGCAGACACACACACACACACACAAACACACAGT AAATACATCCCGACAGGGACAGACACAGACACACACACAGAGACACACAC AA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0079 a0002c0005t0001g0079	1	155	0.0065	451	c.488 others(466): Show c.488-529_488-528insTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT CTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTG TCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTT GTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTT ACTGTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTG TCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGT CTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTG TGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACT GTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGAT GTATTTACTGTGTGTTTGTGT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding	2/9			chrX	TogoVar
HOMEZ_chr14_23267422_23291132	23280705	T T	TATATTTT others(444): Show TATATTTTATTTTATTTTATTTTTGTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0014 a0003c0003t0014	a0003c0003t0014g0138 a0003c0003t0014g0138	1	394	0.0025	451	c.41- others(466): Show c.41-3519_41-3518insTAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATACAA AAATAAAATAAAATAAAATAT	HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	1/1			chr14	TogoVar
IFNAR1_chr21_33319970_33364864	33321822	A A	ATGTGGAA others(444): Show ATGTGGAACATACATGTGTGGAACCAATACATATGTGGAACTGTGGAACC AATACATATGTGGACCATACATGTGTGGAACCAATACATATGTGGAACTG TGGAACCAATACATATGTGGACCATACATGTGTGGAACCAATACATATGT GGACCATACATGTGTGGAACCAATACATATGTGGACCATACATGTGTGGA ACCAATACATATGTGGACCATACATGTGTGGAACCAATACATATGTGGAC CATACATGTGTGGAACCAATACATATGTGGACCATACATGTGTGGAACCA ATACATATGTGGAACATACATGTGTGGAACCAATACATATGTGGAACATA CATGTGTGGAACCAATACATATGTGGACCATACATGTGTGGAACCAATAC ATATGTGGACCATACATGTGTGGAACCAATACATATGTGGACCATACATG TG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	323	0.0031	451	c.-32 others(462): Show c.-3234_-3233insTGTGGAACATACATGTGTGGAACCAATACATATG TGGAACTGTGGAACCAATACATATGTGGACCATACATGTGTGGAACCAAT ACATATGTGGAACTGTGGAACCAATACATATGTGGACCATACATGTGTGG AACCAATACATATGTGGACCATACATGTGTGGAACCAATACATATGTGGA CCATACATGTGTGGAACCAATACATATGTGGACCATACATGTGTGGAACC AATACATATGTGGACCATACATGTGTGGAACCAATACATATGTGGACCAT ACATGTGTGGAACCAATACATATGTGGAACATACATGTGTGGAACCAATA CATATGTGGAACATACATGTGTGGAACCAATACATATGTGGACCATACAT GTGTGGAACCAATACATATGTGGACCATACATGTGTGGAACCAATACATA TGTGGACCATACATGTG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3147		chr21	TogoVar
INO80_chr15_40973880_41121280	41031545	A A	AGGAAGGG others(444): Show AGGAAGGGAGGAGGGAGGAAGGGAGGGAGGGAGGAGGGAGGAAGGGAGGA AGGGAGGAGGGAGGAAGGGAGGGAGGAAGGGAGAAAGGGAGGAAGGGAGG GAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGA GGGAGGGAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGG AAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGGGA GGGAGGAAGGGAGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGG AAGGGAGGAAGGGAGGAAGGGAGGAGGGAGGAAGGGAGGAAGGGAGGAGG GAGGAAGGGAGGAAGGGAGGAGGGAGGAAGGGAGGGAGGAAGGGAGAAAG GGAGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGA AG	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0164 a0001c0001t0002g0164	1	282	0.0036	451	c.290 others(470): Show c.2908-3810_2908-3809insCTTCCTCCCTTCCTCCCTTCCTCCCT TCCTCCCTTCCTCCCTCCCTTCCTCCCTTTCTCCCTTCCTCCCTCCCTTC CTCCCTCCTCCCTTCCTCCCTTCCTCCCTCCTCCCTTCCTCCCTTCCTCC CTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTT CCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTT CCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTTCC TCCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCTTTCTCCCTT CCTCCCTCCCTTCCTCCCTCCTCCCTTCCTCCCTTCCTCCCTCCTCCCTC CCTCCCTTCCTCCCTCCTCCCTTCC	INO80	ENSG00000128908.19	transcript	ENST00000648947.1	protein_coding	24/35			chr15	TogoVar
INO80_chr15_40973880_41121280	41031545	A A	AGGAAGGG others(444): Show AGGAAGGGAGGAGGGAGGAAGGGAGGGAGGGAGGAGGGAGGAAGGGAGGA AGGGAGGAGGGAGGAAGGGAGGGAGGAAGGGAGAAAGGGAGGAAGGGAGG GAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGGAGGGA GGGAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGGAAGGGAGGGAGGAAGG GAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAGGGAGGAAGGGAG GAAGGGAGGAGGGAGGAAGGGAGGAAGGGAGGAGGGAGGAAGGGAGGGAG GAAGGGAGAAAGGGAGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGG AGGAAGGGAGGAAGGGAGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGGAG GGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGGG AG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0052 a0001c0001t0003g0056 a0001c0001t0003g0052 a0001c0001t0003g0056	2	282	0.0071	451	c.290 others(470): Show c.2908-3810_2908-3809insCTCCCTCCCTCCCTTCCTCCCTCCCT CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCC CTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCT CCCTCCCTTCCTCCCTTTCTCCCTTCCTCCCTCCCTTCCTCCCTCCTCCC TTCCTCCCTTCCTCCCTCCTCCCTTCCTCCCTTCCTCCCTCCTCCCTTCC TCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCTT CCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCC TCCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCTTTCTCCCTT CCTCCCTCCCTTCCTCCCTCCTCCCTTCCTCCCTTCCTCCCTCCTCCCTC CCTCCCTTCCTCCCTCCTCCCTTCC	INO80	ENSG00000128908.19	transcript	ENST00000648947.1	protein_coding	24/35			chr15	TogoVar
INSR_chr19_7107265_7299414	7153367	C C	CCACACAC others(444): Show CCACACACACCACACACCACACACACCAAACACACCATACATGCACCACA CACACACCACATGCACACCTCACACACCATACCACACACCACACACACCA CACAAATCACACACATACTACACACACCCACGCCACACACCACACACACA CCACACACGCCACACAACGGACCACACATACACCACACACCACAAACACA ACCACACACACACTATACACACACACCACACACACCACACAACAGACCAC ACATACACACACCACACACCACACACACACACCATACACACACACCACAC ATACCACACACACCACACACACAACCACACACACACACCACACACACAAC ACACAACAGACCACACATACACCACACATACCACACACACACCACACATA CCACACACACACCACACACACAACCACACACACCACACCATACACACAAC CA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0165 a0001c0029t0165	a0001c0029t0165g0297 a0001c0029t0165g0297	1	300	0.0033	451	c.203 others(468): Show c.2030-441_2030-440insTGGTTGTGTGTATGGTGTGGTGTGTGTG GTTGTGTGTGTGGTGTGTGTGTGGTATGTGTGGTGTGTGTGTGGTATGTG TGGTGTATGTGTGGTCTGTTGTGTGTTGTGTGTGTGGTGTGTGTGTGTGG TTGTGTGTGTGGTGTGTGTGGTATGTGTGGTGTGTGTGTATGGTGTGTGT GTGTGGTGTGTGGTGTGTGTATGTGTGGTCTGTTGTGTGGTGTGTGTGGT GTGTGTGTATAGTGTGTGTGTGGTTGTGTTTGTGGTGTGTGGTGTATGTG TGGTCCGTTGTGTGGCGTGTGTGGTGTGTGTGTGGTGTGTGGCGTGGGTG TGTGTAGTATGTGTGTGATTTGTGTGGTGTGTGTGGTGTGTGGTATGGTG TGTGAGGTGTGCATGTGGTGTGTGTGTGGTGCATGTATGGTGTGTTTGGT GTGTGTGGTGTGTGGTGTGTGTG	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	9/21			chr19	TogoVar
INSR_chr19_7107265_7299414	7153367	C C	CCACACAC others(444): Show CCACACACACCACACACCACACACACCAAACACACCATACATGCACCACA CACACACCACATGCACACCTCACACACCATACCACACACCACACACACCA CACAAATCACACACATACTACACACACCCACGCCACACACCACACACACA CCACACACGCCACACAACGGACCACACATACACCACACACCACAAACACA ACCACACACACACTATACACACACACCACACACACCACACAACAGACCAC ACATACACACACCACACACCACACACACCATACACACACACCACACATAC CACACACACCACACACACAACCACACACACACACCACACACACAACACAC AACAGACCACACATACACACACCACACATACCACACACACACCACACATA CCACACACACACCACACACACAACCACACACACCACACCATACACACAAC CA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0119 a0001c0024t0119	a0001c0024t0119g0265 a0001c0024t0119g0265	1	300	0.0033	451	c.203 others(468): Show c.2030-441_2030-440insTGGTTGTGTGTATGGTGTGGTGTGTGTG GTTGTGTGTGTGGTGTGTGTGTGGTATGTGTGGTGTGTGTGTGGTATGTG TGGTGTGTGTATGTGTGGTCTGTTGTGTGTTGTGTGTGTGGTGTGTGTGT GTGGTTGTGTGTGTGGTGTGTGTGGTATGTGTGGTGTGTGTGTATGGTGT GTGTGGTGTGTGGTGTGTGTATGTGTGGTCTGTTGTGTGGTGTGTGTGGT GTGTGTGTATAGTGTGTGTGTGGTTGTGTTTGTGGTGTGTGGTGTATGTG TGGTCCGTTGTGTGGCGTGTGTGGTGTGTGTGTGGTGTGTGGCGTGGGTG TGTGTAGTATGTGTGTGATTTGTGTGGTGTGTGTGGTGTGTGGTATGGTG TGTGAGGTGTGCATGTGGTGTGTGTGTGGTGCATGTATGGTGTGTTTGGT GTGTGTGGTGTGTGGTGTGTGTG	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	9/21			chr19	TogoVar
INSR_chr19_7107265_7299414	7153367	C C	CCACACAC others(444): Show CCACACACACCACACACCACACACACCAAACACACCATACATGCACCACA CACACACCACATGCACACCTCACACACCATACCACACACCACACACACCA CACAAATCACACACATACTACACACACCCACGCCACACACCACACACACA CCACACACGCCACACAACGGACCACACATACACCACACACCACAAACACA ACCACACACACACTATACACACACACCACACACACCACACAACAGACCAC ACATACACCACACACCACAAACACACACCATACACACACACCACACATAC CACACACACCACACACACAACCACACACACACACCACACACACAACACAC AACAGACCACACATACACACACCACACATACCACACACACACCACACATA CCACACACACACCACACACACAACCACACACACCACACCATACACACAAC CA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00438.hp1 others(47): Show HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00673.hp2 HG01069.hp2 HG01081.hp2 HG01123.hp2 HG01167.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01358.hp2 HG01952.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp2 HG02129.hp1 HG02145.hp1 HG02155.hp1 HG02165.hp2 HG02523.hp2 NA18944.hp1 NA18944.hp2 NA18955.hp2 NA18956.hp2 NA18966.hp1 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18993.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19004.hp2 NA19057.hp1 NA19057.hp2 NA19066.hp1 NA19066.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp2 NA19081.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0008 a0001c0027 a0001c0037 a0001c0038 a0001c0055	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(36): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0013 a0001c0001t0030 a0001c0001t0031 a0001c0001t0046 a0001c0001t0047 a0001c0001t0113 a0001c0001t0117 a0001c0002t0015 a0001c0002t0021 a0001c0002t0039 a0001c0002t0079 a0001c0002t0143 a0001c0003t0001 a0001c0003t0005 a0001c0003t0006 a0001c0003t0012 a0001c0003t0018 a0001c0003t0025 a0001c0003t0060 a0001c0003t0061 a0001c0003t0069 a0001c0003t0080 a0001c0003t0101 a0001c0003t0144 a0001c0003t0149 a0001c0003t0150 a0001c0004t0003 a0001c0004t0018 a0001c0004t0025 a0001c0004t0145 a0001c0006t0052 a0001c0008t0018 a0001c0027t0151 a0001c0037t0001 a0001c0038t0094 a0001c0055t0002	a0001c0001t0001g0167 a0001c0001t0001g0233 a0001c0001t0002g0006 others(47): Show a0001c0001t0001g0167 a0001c0001t0001g0233 a0001c0001t0002g0006 a0001c0001t0002g0008 a0001c0001t0002g0016 a0001c0001t0002g0021 a0001c0001t0002g0047 a0001c0001t0002g0064 a0001c0001t0002g0071 a0001c0001t0010g0018 a0001c0001t0013g0232 a0001c0001t0030g0186 a0001c0001t0031g0244 a0001c0001t0046g0070 a0001c0001t0047g0058 a0001c0001t0113g0225 a0001c0001t0117g0260 a0001c0002t0015g0201 a0001c0002t0021g0036 a0001c0002t0039g0247 a0001c0002t0039g0252 a0001c0002t0079g0089 a0001c0002t0143g0251 a0001c0003t0001g0234 a0001c0003t0005g0140 a0001c0003t0005g0195 a0001c0003t0005g0274 a0001c0003t0005g0277 a0001c0003t0006g0037 a0001c0003t0012g0009 a0001c0003t0018g0137 a0001c0003t0025g0004 a0001c0003t0060g0029 a0001c0003t0061g0052 a0001c0003t0069g0017 a0001c0003t0080g0091 a0001c0003t0101g0254 a0001c0003t0144g0259 a0001c0003t0149g0197 a0001c0003t0150g0131 a0001c0004t0003g0220 a0001c0004t0018g0164 a0001c0004t0025g0049 a0001c0004t0145g0128 a0001c0006t0052g0038 a0001c0008t0018g0241 a0001c0027t0151g0224 a0001c0037t0001g0283 a0001c0038t0094g0255 a0001c0055t0002g0030	50	300	0.1667	451	c.203 others(468): Show c.2030-441_2030-440insTGGTTGTGTGTATGGTGTGGTGTGTGTG GTTGTGTGTGTGGTGTGTGTGTGGTATGTGTGGTGTGTGTGTGGTATGTG TGGTGTGTGTATGTGTGGTCTGTTGTGTGTTGTGTGTGTGGTGTGTGTGT GTGGTTGTGTGTGTGGTGTGTGTGGTATGTGTGGTGTGTGTGTATGGTGT GTGTTTGTGGTGTGTGGTGTATGTGTGGTCTGTTGTGTGGTGTGTGTGGT GTGTGTGTATAGTGTGTGTGTGGTTGTGTTTGTGGTGTGTGGTGTATGTG TGGTCCGTTGTGTGGCGTGTGTGGTGTGTGTGTGGTGTGTGGCGTGGGTG TGTGTAGTATGTGTGTGATTTGTGTGGTGTGTGTGGTGTGTGGTATGGTG TGTGAGGTGTGCATGTGGTGTGTGTGTGGTGCATGTATGGTGTGTTTGGT GTGTGTGGTGTGTGGTGTGTGTG	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	9/21			chr19	TogoVar
INSR_chr19_7107265_7299414	7153367	C C	CCACACAC others(444): Show CCACACACACCACACACCACACACACCAAACACACCATACATGCACCACA CACACACCACATGCACACCTCACACACCATACCACACACCACACACACCA CACAAATCACACACATACTACACACACCCACGCCACACACCACACACACA CCACACACGCCACACAATGGACCACACATACACCACACACCACAAACACA ACCACACACACACTATACACACACACCACACACACCACACAACAGACCAC ACATACACCACACACCACAAACACACACCATACACACACACCACACATAC CACACACACCACACACACAACCACACACACACACCACACACACAACACAC AACAGACCACACATACACACACCACACATACCACACACACACCACACATA CCACACACACACCACACACACAACCACACACACCACACCATACACACAAC CA	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	300	0.0033	451	c.203 others(468): Show c.2030-441_2030-440insTGGTTGTGTGTATGGTGTGGTGTGTGTG GTTGTGTGTGTGGTGTGTGTGTGGTATGTGTGGTGTGTGTGTGGTATGTG TGGTGTGTGTATGTGTGGTCTGTTGTGTGTTGTGTGTGTGGTGTGTGTGT GTGGTTGTGTGTGTGGTGTGTGTGGTATGTGTGGTGTGTGTGTATGGTGT GTGTTTGTGGTGTGTGGTGTATGTGTGGTCTGTTGTGTGGTGTGTGTGGT GTGTGTGTATAGTGTGTGTGTGGTTGTGTTTGTGGTGTGTGGTGTATGTG TGGTCCATTGTGTGGCGTGTGTGGTGTGTGTGTGGTGTGTGGCGTGGGTG TGTGTAGTATGTGTGTGATTTGTGTGGTGTGTGTGGTGTGTGGTATGGTG TGTGAGGTGTGCATGTGGTGTGTGTGTGGTGCATGTATGGTGTGTTTGGT GTGTGTGGTGTGTGGTGTGTGTG	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	9/21			chr19	TogoVar
INSR_chr19_7107265_7299414	7153367	C C	CCACACAC others(444): Show CCACACACACCACACACCACACACACCAAACACACCATACATGCACCACA CACACACCACATGCACACCTCACACACCATACCACACACCACACACACCA CACAAATCACACACATACTACACACACCCACGCCACACACCACCCACACA CCACACACGCCACACAACGGACCACACATACACCACACACCACAAACACA ACCACACACACACTATACACACACACCACACACACCACACAACAGACCAC ACATACACCACACACCACAAACACACACCATACACACACACCACACATAC CACACACACCACACACACAACCACACACACACACCACACACACAACACAC AACAGACCACACATACACACACCACACATACCACACACACACCACACATA CCACACACACACCACACACACAACCACACACACCACACCATACACACAAC CA	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0078 a0001c0001t0078	a0001c0001t0078g0090 a0001c0001t0078g0090	1	300	0.0033	451	c.203 others(468): Show c.2030-441_2030-440insTGGTTGTGTGTATGGTGTGGTGTGTGTG GTTGTGTGTGTGGTGTGTGTGTGGTATGTGTGGTGTGTGTGTGGTATGTG TGGTGTGTGTATGTGTGGTCTGTTGTGTGTTGTGTGTGTGGTGTGTGTGT GTGGTTGTGTGTGTGGTGTGTGTGGTATGTGTGGTGTGTGTGTATGGTGT GTGTTTGTGGTGTGTGGTGTATGTGTGGTCTGTTGTGTGGTGTGTGTGGT GTGTGTGTATAGTGTGTGTGTGGTTGTGTTTGTGGTGTGTGGTGTATGTG TGGTCCGTTGTGTGGCGTGTGTGGTGTGTGGGTGGTGTGTGGCGTGGGTG TGTGTAGTATGTGTGTGATTTGTGTGGTGTGTGTGGTGTGTGGTATGGTG TGTGAGGTGTGCATGTGGTGTGTGTGTGGTGCATGTATGGTGTGTTTGGT GTGTGTGGTGTGTGGTGTGTGTG	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	9/21			chr19	TogoVar
IQSEC3_chr12_61767_183455	103862	C C	CGGGGCTC others(444): Show CGGGGCTCGGGGGGTAGGTGGGGGCTCAGGAGGGGAGGTGGGACTCAGGA GGGAGAGGTGGAGTTCGGGGGGAGGCGGGGCTCGGGGGGTAGGTGGGGGC TCAGGAGGGGAGGTAGGACTCAGGAGGGAGAGGTGGAGTTCAGGGGGGAG GCAGGGCTGGGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCAGGGGG GAGGCGGGGCTCGGGAGGGGAGGCGGGGGCTCGGGGGGAGGCGGGGCTCA GGGGGGAGGCGGGGGCTCTGGAGGGGAGGCGGGGGCTCGGGAGGGGAGGC GGGGCTCGGGAGGGGAGGCGGGGGCTCGGGGGGAGGCGGGGCTCAGGGGG GAGGCGGGGGCTCTGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCT CGGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGGGGAGGCG GG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0218 a0001c0002t0002g0218	1	282	0.0036	451	c.623 others(468): Show c.623+4650_623+4651insGGCTCGGGGGGTAGGTGGGGGCTCAGGA GGGGAGGTGGGACTCAGGAGGGAGAGGTGGAGTTCGGGGGGAGGCGGGGC TCGGGGGGTAGGTGGGGGCTCAGGAGGGGAGGTAGGACTCAGGAGGGAGA GGTGGAGTTCAGGGGGGAGGCAGGGCTGGGGGGAGGCGGGGCTCTGGAGG GGAGGCGGGGCTCAGGGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGGCT CGGGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGGCTCTGGAGGGGAGGCG GGGGCTCGGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGGCTCGGGG GGAGGCGGGGCTCAGGGGGGAGGCGGGGGCTCTGGAGGGGAGGCGGGGCT CTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCTGGAGGGGAGG CGGGGCTCGGGGGGAGGCGGGGG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
JAKMIP3_chr10_132060946_132189858	132173126	C C	CTCTCTCT others(444): Show CTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCTCCC CCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCC CCTCCCCCCCTCTCTCTCCCCCTCCCCCCTCTCCCCTCCCCCTCTCTCCC CCTCCCCCTCCCCTCCCCCCTCTCTCTCCCCCTCTGTCCCCCTCCCCTCC CCCCTCTCCCCTCCCCCTCCCCCCTATCCCCCTCCCCCTCCCCCTCCCCC CATCCCCCTCCCCCTCATCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCC CTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCT TCCCTCTCTCTCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCC CTCTGTCTCTCTCCCCCCCCTCCCTCTCTCTCTCTCCCCCTCCTTCCCCC TG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0119 a0001c0001t0021g0119	1	158	0.0063	451	c.11 others(472): Show c.1103+4101_*1103+4102insCCCCTCCCCCTCCTTCCCTCTCTC TCTCCCCCTCCCCTCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCC TCCCCCCTCTCTCTCCCCCTCCCCCCCTCTCTCTCCCCCTCCCCCCTCTC CCCTCCCCCTCTCTCCCCCTCCCCCTCCCCTCCCCCCTCTCTCTCCCCCT CTGTCCCCCTCCCCTCCCCCCTCTCCCCTCCCCCTCCCCCCTATCCCCCT CCCCCTCCCCCTCCCCCCATCCCCCTCCCCCTCATCCCCCTCCCCCTCCT TCCCTCTCCCCCTCCCCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTCT CTCTCTCCCCCCCTCCTTCCCTCTCTCTCCCCCCTCCTTCCCTCTCTCTC TCTCCCCCCCTCCTTCCCTCTGTCTCTCTCCCCCCCCTCCCTCTCTCTCT CTCCCCCTCCTTCCCCCTGTCTCTCTC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132173126	C C	CTCTCTCT others(444): Show CTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCTCCC CCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCC CCTCCCCCCTCTCTCTCCCCCTCCCCCCTCTCCCCTCCCCCTCTCTCCCC CTCCCCCTCCCCTCCCCCCTCTCTCTCCCCCTCTGTCCCCCTCCCCTCCC CCCTCTCCCCTCCCCCTCCCCCCTATCCCCCTCCCCCTCCCCCTCCCCCC ATCCCCCTCCCCCTCATCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCC TCCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTT CCCTCTCTCTCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCCTCCTTCC CTCTGTCTCTCTCCCCCCCCTCCCTCTCTCTCTCTCCCCCTCCTTCCCCC TG	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0007 a0007	a0007c0039 a0007c0039	a0007c0039t0002 a0007c0039t0002	a0007c0039t0002g0133 a0007c0039t0002g0133	1	158	0.0063	451	c.11 others(472): Show c.1103+4101_*1103+4102insCCCCTCCCCCTCCTTCCCTCTCTC TCTCCCCCTCCCCTCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCC TCCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCCTCTCC CCTCCCCCTCTCTCCCCCTCCCCCTCCCCTCCCCCCTCTCTCTCCCCCTC TGTCCCCCTCCCCTCCCCCCTCTCCCCTCCCCCTCCCCCCTATCCCCCTC CCCCTCCCCCTCCCCCCATCCCCCTCCCCCTCATCCCCCTCCCCCTCCTT CCCTCTCCCCCTCCCCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTC TCTCTCCCCCCCTCCTTCCCTCTCTCTCCCCCCTCCTTCCCTCTCTCTCT CTCCCCCCCCTCCTTCCCTCTGTCTCTCTCCCCCCCCTCCCTCTCTCTCT CTCCCCCTCCTTCCCCCTGTCTCTCTC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JMJD1C_chr10_63162225_63470977	63234493	T T	TAAAAAAA others(444): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACACCAAAAACAAA AACCTTCCCTATCCTATAAAAAAAAACCTTTTAATATGTTAATACTTAAA TTTTTAGATTTGCTAAAAATATCGTTAAAGGCCTATAAAAAGAACGAGTT ATTTAATGCAATATTAAGCTGGGCATGGTGGTTCACGCTTGTAATCCTAG CACTTTGGGAGGCTGAGGCAGGTGAAACGCTGAGCCCAGAGTTTGAGACC AGCCTGGGCAACATGGCGAGACCCTGTTTCTACAAGAAATACAAAAATTA GGCAGGTGTTATGGTGCATGCCTGTAGTCCCAGCTACTTGAGAGGCTGAA GTGGGAGGATTGCTTGAGCATGGGAGGTAGAGGCTGCAGTGAGCCACGAT CGCACCACTGCACTCCAGCCTCATCAACAGAGAGAAACCTCCTCTTAAAA AA	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0169 a0003c0003t0001g0169	1	310	0.0032	451	c.448 others(470): Show c.448-14511_448-14510insTTTTTTAAGAGGAGGTTTCTCTCTGT TGATGAGGCTGGAGTGCAGTGGTGCGATCGTGGCTCACTGCAGCCTCTAC CTCCCATGCTCAAGCAATCCTCCCACTTCAGCCTCTCAAGTAGCTGGGAC TACAGGCATGCACCATAACACCTGCCTAATTTTTGTATTTCTTGTAGAAA CAGGGTCTCGCCATGTTGCCCAGGCTGGTCTCAAACTCTGGGCTCAGCGT TTCACCTGCCTCAGCCTCCCAAAGTGCTAGGATTACAAGCGTGAACCACC ATGCCCAGCTTAATATTGCATTAAATAACTCGTTCTTTTTATAGGCCTTT AACGATATTTTTAGCAAATCTAAAAATTTAAGTATTAACATATTAAAAGG TTTTTTTTTATAGGATAGGGAAGGTTTTTGTTTTTGGTGTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTT	JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	3/25			chr10	TogoVar
JMJD1C_chr10_63162225_63470977	63234493	T T	TAAAAAAA others(444): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACACCAAAAACAAAAAC CTTCCCTATCCTATAAAAAAAAACCTTTTAATATGTTAATACTTAAATTT TTAGATTTGCTAAAAATATCGTTAAAGGCCTATAAAAAGAACGAGTTATT TAATGCAATATTAAGCTGGGCATGGTGGTTCACGCTTGTAATCCTAGCAC TTTGGGAGGCTGAGGCAGGTGAAACGCTGAGCCCAGAGTTTGAGACCAGC CTGGGCAACATGGCGAGACCCTGTTTCTACAAGAAATACAAAAATTAGGC AGGTGTTATGGTGCATGCCTGTAGTCCCAGCTACTTGAGAGGCTGAAGTG GGAGGATTGCTTGAGCATGGGAGGTAGAGGCTGCAGTGAGCCACGATCGC ACCACTGCACTCCAGCCTCATCAACAGAGAGAAACCTCCTCTTAAAAAAA AA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0173 a0003c0003t0001g0173	1	310	0.0032	451	c.448 others(470): Show c.448-14511_448-14510insTTTTTTTTTAAGAGGAGGTTTCTCTC TGTTGATGAGGCTGGAGTGCAGTGGTGCGATCGTGGCTCACTGCAGCCTC TACCTCCCATGCTCAAGCAATCCTCCCACTTCAGCCTCTCAAGTAGCTGG GACTACAGGCATGCACCATAACACCTGCCTAATTTTTGTATTTCTTGTAG AAACAGGGTCTCGCCATGTTGCCCAGGCTGGTCTCAAACTCTGGGCTCAG CGTTTCACCTGCCTCAGCCTCCCAAAGTGCTAGGATTACAAGCGTGAACC ACCATGCCCAGCTTAATATTGCATTAAATAACTCGTTCTTTTTATAGGCC TTTAACGATATTTTTAGCAAATCTAAAAATTTAAGTATTAACATATTAAA AGGTTTTTTTTTATAGGATAGGGAAGGTTTTTGTTTTTGGTGTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTT	JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	3/25			chr10	TogoVar
KIF26A_chr14_104133587_104185894	104185779	A A	ATGGGGTG others(444): Show ATGGGGTGGGGTGATTGTAGGGGATGGGGTGGGGTAGAGGGGTGGGGTGG GGTGATTGTAGGGGATGGGGTGGGGTAGAGGGGTGGGGTGGGGTGATTGT AGGGGATGGGGTGGGGTAGAGGGGTGGGGTGGGGTGATTGTAGGGGATGG GGTGGGGTAGAGGGGTGGGGTGGGGTGATTGTAGGGGATGGGGTGGGGTA GAGGGATGGGGTGGGGTGATTGTAGGGGGTGGGGTGGGGTAGAGGGGTGG GGTGGGGTGATTGTAGGGGATGGGGTGGGGTAGAGGGGTGGGGTGGGGTG ATTGTAGGGGGTGGGGTGGGGTAGAGGGATGGGGTGGGGTGATTGTAGGG GATGGGGTGGGGTAGAGGGGTGGGGTGGGGTGATTGTAGGGGGTGGGGTG GGGTAGAGGGGTGGGGTGGGGTGATTGTAGGGGGTGGGGTGGGGTAGAGG GG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA20300.hp2 NA19030.hp2 NA20300.hp2	a0001 a0001	a0001c0005 a0001c0040 a0001c0005 a0001c0040	a0001c0005t0003 a0001c0040t0003 a0001c0005t0003 a0001c0040t0003	a0001c0005t0003g0033 a0001c0040t0003g0038 a0001c0005t0003g0033 a0001c0040t0003g0038	2	374	0.0054	451	c.59 others(462): Show c.5989_*5990insTGGGGTGGGGTGATTGTAGGGGATGGGGTGGGGT AGAGGGGTGGGGTGGGGTGATTGTAGGGGATGGGGTGGGGTAGAGGGGTG GGGTGGGGTGATTGTAGGGGATGGGGTGGGGTAGAGGGGTGGGGTGGGGT GATTGTAGGGGATGGGGTGGGGTAGAGGGGTGGGGTGGGGTGATTGTAGG GGATGGGGTGGGGTAGAGGGATGGGGTGGGGTGATTGTAGGGGGTGGGGT GGGGTAGAGGGGTGGGGTGGGGTGATTGTAGGGGATGGGGTGGGGTAGAG GGGTGGGGTGGGGTGATTGTAGGGGGTGGGGTGGGGTAGAGGGATGGGGT GGGGTGATTGTAGGGGATGGGGTGGGGTAGAGGGGTGGGGTGGGGTGATT GTAGGGGGTGGGGTGGGGTAGAGGGGTGGGGTGGGGTGATTGTAGGGGGT GGGGTGGGGTAGAGGGG	KIF26A	ENSG00000066735.16	transcript	ENST00000423312.7	protein_coding		4886		chr14	TogoVar
KISS1_chr1_204185341_204201491	204195224	T T	TACACACA others(444): Show TACACACACATCATACACACACACACCACACACATATATACGCACACACC CATACACACACACACCACACACACCACACATGCACACCACACACATATAC ACACATACACCCACACACACACATCATACACACACACACCACACACATAC ACCACACACACCACACATGCACACACACCACACACATATATACGCATACA CCCATACACACATCATACACACACCACACACACCACACATGCACACCACA CACATACACGCATACACCCATACACACACATCATACACACACACACCACA CACACCACACACATATACGCATACACCCATACACACACATCATACACACA CATACACCACACACACCACACACGCACACCACACACACACACATACACCC ATGCACACACATCATACACACACAAACCACACATACCACACACATACACC AC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0092 a0001c0001t0019g0092	1	400	0.0025	451	c.-39 others(468): Show c.-39+1151_-39+1152insGTGGTGTATGTGTGTGGTATGTGTGGTT TGTGTGTGTATGATGTGTGTGCATGGGTGTATGTGTGTGTGTGTGGTGTG CGTGTGTGGTGTGTGTGGTGTATGTGTGTGTATGATGTGTGTGTATGGGT GTATGCGTATATGTGTGTGGTGTGTGTGGTGTGTGTGTGTATGATGTGTG TGTATGGGTGTATGCGTGTATGTGTGTGGTGTGCATGTGTGGTGTGTGTG GTGTGTGTATGATGTGTGTATGGGTGTATGCGTATATATGTGTGTGGTGT GTGTGCATGTGTGGTGTGTGTGGTGTATGTGTGTGGTGTGTGTGTGTATG ATGTGTGTGTGTGGGTGTATGTGTGTATATGTGTGTGGTGTGCATGTGTG GTGTGTGTGGTGTGTGTGTGTATGGGTGTGTGCGTATATATGTGTGTGGT GTGTGTGTGTATGATGTGTGTGT	KISS1	ENSG00000170498.10	transcript	ENST00000367194.5	protein_coding	1/2			chr1	TogoVar
KISS1_chr1_204185341_204201491	204195224	T T	TACACACA others(444): Show TACACACACATCATACACACACACACCACACACATATATACGCACACACC CATACACACACACACCACACACACCACACATGCACACCACACACATATAC ACACATACACCCATACACACACATCATACACACACACACCACACACATAC ACCACACACACCACACATGCACACACACCACACACATATATACGCATACA CCCATACACACATCATACACACACCACACACACCACACATGCACACCACA CACATACACGCATACACCCATACACACACATCATACACACACACACCACA CACACCACACACATATACGCATACACCCATACACACACATCATACACACA CATACACCACACACACCACACACGCACACCACACACATATACACACATAC ACCCATGCACACACATCATACACAAACCACACATACCACACACATACACC AC	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA19030.hp1 NA21309.hp2 HG02922.hp1 NA19030.hp1 NA21309.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0007 a0001c0001 a0007c0007	a0001c0001t0013 a0007c0007t0023 a0001c0001t0013 a0007c0007t0023	a0001c0001t0013g0034 a0007c0007t0023g0095 a0001c0001t0013g0034 a0007c0007t0023g0095	3	400	0.0075	451	c.-39 others(468): Show c.-39+1151_-39+1152insGTGGTGTATGTGTGTGGTATGTGTGGTT TGTGTATGATGTGTGTGCATGGGTGTATGTGTGTATATGTGTGTGGTGTG CGTGTGTGGTGTGTGTGGTGTATGTGTGTGTATGATGTGTGTGTATGGGT GTATGCGTATATGTGTGTGGTGTGTGTGGTGTGTGTGTGTATGATGTGTG TGTATGGGTGTATGCGTGTATGTGTGTGGTGTGCATGTGTGGTGTGTGTG GTGTGTGTATGATGTGTGTATGGGTGTATGCGTATATATGTGTGTGGTGT GTGTGCATGTGTGGTGTGTGTGGTGTATGTGTGTGGTGTGTGTGTGTATG ATGTGTGTGTATGGGTGTATGTGTGTATATGTGTGTGGTGTGCATGTGTG GTGTGTGTGGTGTGTGTGTGTATGGGTGTGTGCGTATATATGTGTGTGGT GTGTGTGTGTATGATGTGTGTGT	KISS1	ENSG00000170498.10	transcript	ENST00000367194.5	protein_coding	1/2			chr1	TogoVar
KISS1_chr1_204185341_204201491	204195224	T T	TACACACA others(444): Show TACACACACATCATACACACACACACCACACATATACGCACACACCCATA CACACACACACCACACACACCACACATGCACACCACACACATATACACAC ATACACCCATACACACACATCATACACACACACACCACACACATACACCA CACACACCACACATGCACACACACCACACACATATATACGCATACACCCA TACACACATCATACACACACCACACACACCACACATGCACACCACACACA TACACGCATACACCCATACACACACATCATACACACACACACCACACACA CCACACACATATACGCATACACCCATACACACACATCATACACACACATA CACCACACACACCACACACGCACACCACACACATATACACACATACACCC ATGCACACACATCATACACACACAAACCACACATACCACACACATACACC AC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0079 a0002c0002t0002g0079	1	400	0.0025	451	c.-39 others(468): Show c.-39+1151_-39+1152insGTGGTGTATGTGTGTGGTATGTGTGGTT TGTGTGTGTATGATGTGTGTGCATGGGTGTATGTGTGTATATGTGTGTGG TGTGCGTGTGTGGTGTGTGTGGTGTATGTGTGTGTATGATGTGTGTGTAT GGGTGTATGCGTATATGTGTGTGGTGTGTGTGGTGTGTGTGTGTATGATG TGTGTGTATGGGTGTATGCGTGTATGTGTGTGGTGTGCATGTGTGGTGTG TGTGGTGTGTGTATGATGTGTGTATGGGTGTATGCGTATATATGTGTGTG GTGTGTGTGCATGTGTGGTGTGTGTGGTGTATGTGTGTGGTGTGTGTGTG TATGATGTGTGTGTATGGGTGTATGTGTGTATATGTGTGTGGTGTGCATG TGTGGTGTGTGTGGTGTGTGTGTGTATGGGTGTGTGCGTATATGTGTGGT GTGTGTGTGTATGATGTGTGTGT	KISS1	ENSG00000170498.10	transcript	ENST00000367194.5	protein_coding	1/2			chr1	TogoVar
LRFN2_chr6_40386591_40592364	40491696	G G	GTGTTTCC others(444): Show GTGTTTCCCTCACTCTATTTTGCCGTGTGACGGGTAGGTAGGCAGCTTAC CCTCTCTGAGTGTGTTTCCCTCTCTCCATTTTGCTGTGTGACTGTGGGTA GGTAGGCAGCTTACCCTCTCTGAGTGTCTGTTTCCCTCACTCTATTTTGC TGTGTGACTGTGGGTAGGTAGGCAGCTTACCCTCTCTGAGTGTGTTTCCC TCTCTCCATTTTGCTGTGTGACTGTGGGTAGGTAGGCAGCTTACCCTCTC TGAGTGTGTTTCCCTCACTCTATTTTGCCGTGTGACTGTGGGTAGGTAGG CAGCTTACCCTCTCTGAGTGTCTGTTTCCCTCATTCTATTTTGCCGTGTG ACTGTGGGTAGGTAGGCAGCTTACCCTCTCTGAGTGTCTGTTTCCCTCAC TCTATTTTGCTGTGTGACTGTGGGTAGGTAGGCAGCTTACCCTCTCTGAG TT	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0164 a0001c0003t0002g0164	1	228	0.0044	451	c.-18 others(470): Show c.-18-58566_-18-58565insAACTCAGAGAGGGTAAGCTGCCTACC TACCCACAGTCACACAGCAAAATAGAGTGAGGGAAACAGACACTCAGAGA GGGTAAGCTGCCTACCTACCCACAGTCACACGGCAAAATAGAATGAGGGA AACAGACACTCAGAGAGGGTAAGCTGCCTACCTACCCACAGTCACACGGC AAAATAGAGTGAGGGAAACACACTCAGAGAGGGTAAGCTGCCTACCTACC CACAGTCACACAGCAAAATGGAGAGAGGGAAACACACTCAGAGAGGGTAA GCTGCCTACCTACCCACAGTCACACAGCAAAATAGAGTGAGGGAAACAGA CACTCAGAGAGGGTAAGCTGCCTACCTACCCACAGTCACACAGCAAAATG GAGAGAGGGAAACACACTCAGAGAGGGTAAGCTGCCTACCTACCCGTCAC ACGGCAAAATAGAGTGAGGGAAACA	LRFN2	ENSG00000156564.10	transcript	ENST00000338305.7	protein_coding	1/2			chr6	TogoVar
LRRC14_chr8_144512992_144530172	144513874	C C	CCTGTGCG others(444): Show CCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGT GGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGG CGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAG GAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGT GGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0002 a0001c0001t0046g0002	1	414	0.0024	451	c.-42 others(462): Show c.-4279_-4278insCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGG GCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGG GTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGA GTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGG GCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGG GTCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGA GAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGG GCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGG GTCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGA GTGAGGAGGGGTCGGCT	LRRC14	ENSG00000160959.8	transcript	ENST00000292524.6	protein_coding		4117		chr8	TogoVar
LRRC24_chr8_144517388_144532033	144531191	A A	AGAGCAGC others(444): Show AGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC AGCAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGG GCACAGGGCAGAGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCAC GGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGC ACGGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAG GCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAG ACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGA GTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGC AGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCA GG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	398	0.0025	451	c.-42 others(462): Show c.-4292_-4291insCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGC CTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTT CTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCC TGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGC TTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCT GCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTG CTGCTCTCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACT CCCCACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCA CTCCCCACCTGCTGCTC	LRRC24	ENSG00000254402.7	transcript	ENST00000529415.7	protein_coding		4159		chr8	TogoVar
METTL25B_chr1_156723469_156741960	156735555	A A	AATAGGCA others(444): Show AATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGC TGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCC TGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATAT ATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCAT CCTGGTGAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA GCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGAT TGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATAT AT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0226 a0001c0001t0002g0226	1	390	0.0026	451	c.112 others(468): Show c.1122-169_1122-168insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAATATATATATATATA	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
MFRP_chr11_119333942_119351705	119349012	A A	ATGGTGGC others(444): Show ATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCG GATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCT GTCTCTACTAAAAGTACAAAACAAATTAGCCGGGCGTGGTGGTGGGCGCC TGTAGTCCTAGCTCCTTGGGAGGCTAAGGCCCGAGAATGGCATGAACTCG GGAGGCGGAGCTTGCAGTGAGCCGAGGTTGCGCCACTGCACTCCAGCCTG GGCGACAGAGCGAGACTCCGTCTTACTTTAGCTTGTAAAGCGTTCATTAT ATTAAAATTTATTGTTTAAAAATTAGTAAGAAAATACTTAAATTTCTCTC GGCTTTAATATTAATTTGGTAAATATTAATAGATAGAACCCACATAAAGC AAAGGTCTTTGGGGTTCTCCATAATTTTTAAGAATGTAAGGGAGGTCGGG TG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02895.hp1 HG02976.hp1 HG02647.hp1 HG02895.hp1 HG02976.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0010 a0001c0001 a0005c0010	a0001c0001t0004 a0005c0010t0002 a0001c0001t0004 a0005c0010t0002	a0001c0001t0004g0077 a0005c0010t0002g0027 a0001c0001t0004g0077 a0005c0010t0002g0027	3	318	0.0094	451	c.-25 others(462): Show c.-2500_-2499insCACCCGACCTCCCTTACATTCTTAAAAATTATGG AGAACCCCAAAGACCTTTGCTTTATGTGGGTTCTATCTATTAATATTTAC CAAATTAATATTAAAGCCGAGAGAAATTTAAGTATTTTCTTACTAATTTT TAAACAATAAATTTTAATATAATGAACGCTTTACAAGCTAAAGTAAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAACCTCGGCTC ACTGCAAGCTCCGCCTCCCGAGTTCATGCCATTCTCGGGCCTTAGCCTCC CAAGGAGCTAGGACTACAGGCGCCCACCACCACGCCCGGCTAATTTGTTT TGTACTTTTAGTAGAGACAGGTTTCACCGTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCA	MFRP	ENSG00000235718.9	transcript	ENST00000619721.6	protein_coding		2308		chr11	TogoVar
MPPED1_chr22_43407014_43512848	43432640	A A	AGGGAGGA others(444): Show AGGGAGGAGAGAGAGGGAAAGAGAGAGAGAAGGGGAGGAGAGAGAGAAAG GGAGGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGG GAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAG GGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGGGAAAGAGAAAGGGAG GAGAGAGAGGGAAAGAGAGAAGGGGAGGAGAGAGAAAGGGAGGAGAGAGA GAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGAGAGAGAG AAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGA GAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAG AGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGG AG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02622.hp1 HG02723.hp2 others(1): Show HG02559.hp2 HG02622.hp1 HG02723.hp2 HG02970.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0024 a0001c0003t0006 a0001c0003t0024	a0001c0003t0006g0002 a0001c0003t0006g0004 a0001c0003t0006g0005 others(1): Show a0001c0003t0006g0002 a0001c0003t0006g0004 a0001c0003t0006g0005 a0001c0003t0024g0006	4	250	0.0160	451	c.225 others(468): Show c.225-2393_225-2392insGGAGGAGAGAGAGGGAAAGAGAGAGAGA AGGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAAAG GGAGGAGAGAGAGAGAAAGGGAGGAGAGAGATAAAGGGAGGAGAGAGAGA AAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAG AGAGGGAAAGAGAAAGGGAGGAGAGAGAGGGAAAGAGAGAAGGGGAGGAG AGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGA GAGAGAGAAAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAG AGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAG GAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGG GAGGAGAGAGAGAGAAAGGGAGG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MRPL24_chr1_156732303_156746088	156735555	A A	AATAGGCA others(444): Show AATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGC TGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCC TGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATAT ATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCAT CCTGGTGAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA GCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGAT TGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATAT AT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0043 a0004c0004t0001g0043	1	364	0.0028	451	c.18 others(462): Show c.1842_*1843insATATATATATATATTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTGAGATGGCGTCTCGCTCTGTTGCCCAGG CTGGAGTGCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGT TTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTA CTCGCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCATGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCC AGCCTCGGCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCAC CCAGGCTGGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACAC CTCAATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAG CTACCATGCCTGCCTAT	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1747		chr1	TogoVar
MSLN_chr16_755734_773862	767634	C C	CGCGTGGA others(444): Show CGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGTGTGGAGGG GGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAGGGGGGTGCGTGGAGG AGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGC GTGGAGGGGGCACGTGGAGGGGTCGCGTGGAGGAGGGGCGCGTGGAGGGG GCCGTGTGGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGGCGCGTGGGG GGGTGTGGAGGGGGGCGCGTGGGGGTGTGTGGGGGGGGCACGTGGAGGGG GGCGTGTGGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTG GAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGGGGC ACGTGGAGGGGTCGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGG GG	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	388	0.0026	451	c.159 others(468): Show c.1596+173_1596+174insGGGCCGTGTGGGGGGGCGTGGAGGAGGG GCGTGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAGGGG GGTGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGT GGAGGGGGGCGCGTGGAGGGGGCACGTGGAGGGGTCGCGTGGAGGAGGGG CGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGCGTGGAGGG GGGCGCGTGGGGGGGTGTGGAGGGGGGCGCGTGGGGGTGTGTGGGGGGGG CACGTGGAGGGGGGCGTGTGGGGGGGTGCGTGGAGGAGGGGCGCGTGGAG GAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCG CGTGGAGGGGGCACGTGGAGGGGTCGCGTGGAGGAGGGGCGCGTGGAGGG GGCCGTGTGGGGGGGCGTGGAGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MYO1B_chr2_191240404_191430386	191398221	T T	TGGGGCGG others(444): Show TGGGGCGGCTGGCCGGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCTGA CGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTTCCGGAC GGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGG CTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGG TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCAGGCGGGGGGCCGATCCCCCCACCTCCCTCCCGG AC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0014 a0001c0003t0001g0014	1	170	0.0059	451	c.229 others(470): Show c.2295+1741_2295+1742insGGGGGGCTGATCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCCCACCTCCCT CCCTGACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTT CCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGC GGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GAGGGGTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCAC CTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCCGATCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGC	MYO1B	ENSG00000128641.19	transcript	ENST00000392318.8	protein_coding	21/30		INFO_REALIGN_3_PRIME	chr2	TogoVar
MYT1_chr20_64159452_64247253	64233262	T T	TCCCCTTT others(444): Show TCCCCTTTCCCTCCTCCCCTCTTCCCTCCCTCTCTCTCCTCCCCCTCCCC TCTTCCCTCCCCTCCCCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTTCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCCTCCCC TTCCTCTCCCCTCTCCCTCCCCTTCCTCTCCCCTCTCCCTTCCCTTTTGC CTCCTCTCCCCTCCCCTTCCCCTCCCCTCCTCTTCCCCTCCCCTCTCCTT CCCCTTTCCCTCCTCCCCTCTTCCCTCCCTCTCTCTCCTCCCCCTCCCCT CTTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCC TCCCCTTCCCCTCCCCTCTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CTCCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTTCCTCTCCCCTCTCCCT CC	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA21309.hp2 HG01891.hp1 NA21309.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0021 a0001c0003t0022 a0001c0003t0021 a0001c0003t0022	a0001c0003t0021g0137 a0001c0003t0022g0053 a0001c0003t0021g0137 a0001c0003t0022g0053	2	223	0.0090	451	c.289 others(468): Show c.2897+879_2897+880insCCTTTCCCTCCTCCCCTCTTCCCTCCCT CTCTCTCCTCCCCCTCCCCTCTTCCCTCCCCTCCCCCTCCCCTTCCCCTC CCCTCTCCCTCCCCTTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTCTCCCTCCCCTTCCTCTCCCCTCTCCCTCCCCTTCCTCTCC CCTCTCCCTTCCCTTTTGCCTCCTCTCCCCTCCCCTTCCCCTCCCCTCCT CTTCCCCTCCCCTCTCCTTCCCCTTTCCCTCCTCCCCTCTTCCCTCCCTC TCTCTCCTCCCCCTCCCCTCTTCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCTCTCCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCTCTCCCTCCCCTTCCCCTCCCCTCTCCCTCCC CTTCCTCTCCCCTCTCCCTCCCC	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
NEDD4L_chr18_58039226_58406539	58170561	A A	AGGACAGA others(444): Show AGGACAGAACACTGCTGCCCGCCTCATCACCCCAGCCCAAGAGGACAGAA CACTGCTGCCCGCCTCATCACCCCAGCCCAAGAGGACAGAACACTGCTGC CCGCCTCATCACCCCAGCCCAAGAGGACAGAACACTGCTGCCCGCCTCAT CACCCCAGCCCAAGAGGACAGAACACTGCTGCCCGCCTCATCACCCCAGC CCAAGAGGACAGAACACTGCTGCCCGCCTCATCACCCCAGCCCAAGAGGA CAGAACACTGCTGCCCGCCTCATCACCCCAGCCCAAGAGGACAGAACACT GCTGCCCGCCTCATCACCCCAGCCCAAGGGGACAGAACACTGCTGCCCGC CTCATCACCCCAGCCCAAGGGGACAGAACACTGCTGCCCGCCTCATCACC CCAGCCCAAGGGGACAGAACACTGCTGCCCGCCTCATCACCCCAGCCCAA GG	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0048 a0001c0001t0004g0048	1	118	0.0085	451	c.122 others(468): Show c.122+4822_122+4823insAGGACAGAACACTGCTGCCCGCCTCATC ACCCCAGCCCAAGAGGACAGAACACTGCTGCCCGCCTCATCACCCCAGCC CAAGAGGACAGAACACTGCTGCCCGCCTCATCACCCCAGCCCAAGAGGAC AGAACACTGCTGCCCGCCTCATCACCCCAGCCCAAGAGGACAGAACACTG CTGCCCGCCTCATCACCCCAGCCCAAGGGGACAGAACACTGCTGCCCGCC TCATCACCCCAGCCCAAGGGGACAGAACACTGCTGCCCGCCTCATCACCC CAGCCCAAGGGGACAGAACACTGCTGCCCGCCTCATCACCCCAGCCCAAG GGGACAGAACACTGCTGCCCGCCTCATCACCCCAGCCCAAGAGGACAGAA CACTGCTGCCCGCCTCATCACCCCAGCCCAAGAGGACAGAACACTGCTGC CCGCCTCATCACCCCAGCCCAAG	NEDD4L	ENSG00000049759.20	transcript	ENST00000400345.8	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr18	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTATAT others(444): Show CTGTATATATGTACAGCATGTATACTGTATATATGTACAGCATGTATACT GTGTACAGCATGTATACTGTGTACAGCATGTATACTGTATGTATGTATAC TGTATGTATGTATACTGTATGTATGTATACCGTATATATACACAGTATGT ATACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGTAT ACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGTATAC CGTATATATACACAGTATGTATACTGTGTATGCAGTATGTATACAGTATA CATACTGCATGCAGTATGTATACTGTATACATACTGCATGCAGTATGTAT ACTGTATATATACACTATACAGTATGTATACTGTATATATACACACAGTA TGTATACTGTATATATACACACAGTATGTATACTGTATATATACACACAG TA	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0168 a0001c0004t0003g0168	1	362	0.0028	451	c.-75 others(470): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTATA CATACTGTATAGTGTATATATACAGTATACATACTGCATGCAGTATGTAT ACAGTATACATACTGCATGCAGTATGTATACTGTATACATACTGCATACA CAGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATACG GTATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGT ATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTAT ACATACATACAGTATACATACATACAGTATACATACATACAGTATACATG CTGTACACAGTATACATGCTGTACACAGTATACATGCTGTACATATATAC AGTATACATGCTGTACATATATACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NHLRC4_chr16_562005_574495	571109	C C	CTGGCTAG others(444): Show CTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGT CTGGCTAGCCTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGTGCCCGTG TGTGTGTGTATGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGC TAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGCT CCCGTGGCTAGCCTGGTGCCTGTGTGTGTGTGTGTGTATGTGTCTGGCTA GCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGTGTGGGGG GGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGC GTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGG CGCCCGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACC CG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	424	0.0024	451	c.26 others(462): Show c.2690_*2691insTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCC TGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGTGTCTGGCT AGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTCTGGCTAG CCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGT CTGGCTAGCCTGGCTCCCGTGGCTAGCCTGGTGCCTGTGTGTGTGTGTGT GTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGT GTGTGTGTGTGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGT GTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGT GTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGTGTGTGTCT GGCTAGCCTGGCACCCG	NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding		1615		chr16	TogoVar
NINL_chr20_25447697_25590531	25562188	G G	GCCCGGCC others(444): Show GCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCACCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCCACCCCGCCAGCCGCCCCGTCCAG GAGGGAGGTGGGGGGGTCAGCCCCCTGCCTGGCCAGCCACCCCATCCGGG AGGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCC TCTGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGAGTCAGCCCC CCGCCCGGCCAGCCGCCCCGTCCAGGAGGCTGGTTGGGGGGTCAGCCCCC CGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGGTCAGCCCCC CA	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA19240.hp1 HG03098.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0189 a0001c0001t0001g0190	2	310	0.0065	451	c.-12 others(470): Show c.-12+23266_-12+23267insTGGGGGGCTGACCCCCCCCACCTCCC TCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCAGCCT CCTGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACTCCCCCACCTCCCTC CTGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGG TGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGTGGCTGGCCAGGC AGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCGGGGTG GGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCAG AGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCAC CTCCCGGACGGGGCGGCTGGCCGGG	NINL	ENSG00000101004.16	transcript	ENST00000278886.11	protein_coding	1/23			chr20	TogoVar
NINL_chr20_25447697_25590531	25562188	G G	GCCCGGCC others(444): Show GCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCACCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCCGCCAGCCGCCCCGTCCAG GAGGGAGGTGGGGGGGTCAGCCCCCTGCCTGGCCAGCCACCCCATCCGGG AGGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCC TCTGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGAGTCAGCCCC CCGCCCGGCCAGCCGCCCCGTCCAGGAGGCTGGTTGGGGGGTCAGCCCCC CGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGGTCAGCCCCC CA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01361.hp2 HG01891.hp2 others(16): Show HG01167.hp1 HG01361.hp2 HG01891.hp2 HG02145.hp1 HG02145.hp2 HG02559.hp1 HG02647.hp1 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG03130.hp2 HG03139.hp2 HG03471.hp2 HG03491.hp2 HG03492.hp2	a0001 a0004 a0001 a0004	a0001c0004 a0001c0012 a0004c0005 others(1): Show a0001c0004 a0001c0012 a0004c0005 a0004c0010	a0001c0004t0001 a0001c0012t0001 a0001c0012t0010 others(3): Show a0001c0004t0001 a0001c0012t0001 a0001c0012t0010 a0004c0005t0001 a0004c0010t0001 a0004c0010t0006	a0001c0004t0001g0215 a0001c0012t0001g0222 a0001c0012t0001g0229 others(16): Show a0001c0004t0001g0215 a0001c0012t0001g0222 a0001c0012t0001g0229 a0001c0012t0010g0239 a0004c0005t0001g0202 a0004c0005t0001g0203 a0004c0005t0001g0204 a0004c0005t0001g0205 a0004c0005t0001g0206 a0004c0005t0001g0207 a0004c0005t0001g0208 a0004c0005t0001g0210 a0004c0005t0001g0213 a0004c0005t0001g0216 a0004c0005t0001g0217 a0004c0010t0001g0211 a0004c0010t0001g0219 a0004c0010t0001g0220 a0004c0010t0006g0212	19	310	0.0613	451	c.-12 others(470): Show c.-12+23266_-12+23267insTGGGGGGCTGACCCCCCCCACCTCCC TCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCAGCCT CCTGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACTCCCCCACCTCCCTC CTGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGG TGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGTGGCTGGCCAGGC AGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCGGGGCG GGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCAG AGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCAC CTCCCGGACGGGGCGGCTGGCCGGG	NINL	ENSG00000101004.16	transcript	ENST00000278886.11	protein_coding	1/23			chr20	TogoVar
NINL_chr20_25447697_25590531	25562188	G G	GCCCGGCC others(444): Show GCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCACCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCCGCCAGCCGCCCCGTCCAG GAGGGAGGTGGGGGGGTCAGCCCCCTGCCTGGCCAGCCACCCCATCCGGG AGGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCC TCTGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGAGTCAGCCCC CCGCCCGGCCAGCCGCCCCGTCCAGGAGGCTGGTTGGGGGGTCAGCCCCC CGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTTGGGGGGGTCAGCCCCC CA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01884.hp1 HG01975.hp1 others(2): Show HG01515.hp1 HG01884.hp1 HG01975.hp1 HG02970.hp2 HG03453.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0009 a0002c0002t0001 a0002c0002t0002 a0002c0002t0009	a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0005 others(2): Show a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0002g0234 a0002c0002t0009g0233	5	310	0.0161	451	c.-12 others(470): Show c.-12+23266_-12+23267insTGGGGGGCTGACCCCCCCAACCTCCC TCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCAGCCT CCTGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACTCCCCCACCTCCCTC CTGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGG TGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGTGGCTGGCCAGGC AGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCGGGGCG GGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCAG AGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCAC CTCCCGGACGGGGCGGCTGGCCGGG	NINL	ENSG00000101004.16	transcript	ENST00000278886.11	protein_coding	1/23			chr20	TogoVar
NINL_chr20_25447697_25590531	25562237	G G	GCCCCTAC others(444): Show GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCACCCCGTCC GGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCCGCCAGCCGCCCCGTCCA GGAGGGAGGTGGGGGGGTCAGCCCCCTGCCTGGCCAGCCACCCCATCCGG GAGGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGAGTCAGCCC CCCGCCCGGCCAGCCGCCCCGTCCAGGAGGCTGGTTGGGGGGTCAGCCCC CCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGGTCAGCCCC CCACCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0218 a0004c0005t0001g0218	1	310	0.0032	451	c.-12 others(470): Show c.-12+23217_-12+23218insTGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCCACCTCCCT CCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCAGCCTC CTGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACTCCCCCACCTCCCTCC TGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGT GGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGTGGCTGGCCAGGCA GGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCGGGGCGG GGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGG	NINL	ENSG00000101004.16	transcript	ENST00000278886.11	protein_coding	1/23			chr20	TogoVar
NKD2_chr5_1003802_1043943	1024962	T T	TCTGTGGG others(444): Show TCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGC GTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCTCTGTGGGTGTCCCAGCC CGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTCCC TGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCTTTGTCCCTGCTCTTCC CACCCTCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCTCTG TGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCT CAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTT GTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTCCCTGCT CTTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACC CG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0066 a0001c0001t0004g0066	1	319	0.0031	451	c.142 others(468): Show c.142-6988_142-6987insCCTCTGTGGGCGTCTCAGCCCGTTGTCC CTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTC CCACCCGCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCT GTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTC TCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGT TGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTCCCTGC TCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCAC CCTCTGTGGGTGTCCCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGG GCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAG CCCTTTGTCCCTGCTCTTCCCAC	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1024962	T T	TCTGTGGG others(444): Show TCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGC GTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCTCTGTGGGTGTCCCAGCC CGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTCCC TGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCTTTGTCCCTGCTCTTCC CACTCTCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCTCTG TGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCT CAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTT GTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTCCCTGCT CTTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACC CG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02257.hp2 HG02451.hp1 others(2): Show HG02109.hp1 HG02257.hp2 HG02451.hp1 HG03516.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0063 a0001c0001t0004g0064 a0001c0001t0004g0068 others(2): Show a0001c0001t0004g0063 a0001c0001t0004g0064 a0001c0001t0004g0068 a0001c0001t0004g0069 a0001c0001t0004g0071	5	319	0.0157	451	c.142 others(468): Show c.142-7108_142-6658dupTCTGTGGGTGTCCCAGCCCGTTGTCCCT GCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCC ACCCGCTGTGGGCGTCCCAGCCCTTTGTCCCTGCTCTTCCCACTCTCTGT GGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTC AGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTTG TCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTC TTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCC GCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGC GTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCC CGTTGTCCCTGCTCTTCCCACCC	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1024962	T T	TCTGTGGG others(444): Show TCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGC GTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCTCTGTGGGTGTCCCAGCC CGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTCCC TGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCTTTGTCCCTGCTCTTCC CACTCTCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCTCTG TGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCT CAGCCTGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTT GTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTCCCTGCT CTTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACC CG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0067 a0001c0001t0004g0067	1	319	0.0031	451	c.142 others(468): Show c.142-6886_142-6885insTGTTGTCCCTGCTCTTCCCACCCGCTGT GGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTC AGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTTG TCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTC TTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCC TCTGTGGGTGTCCCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGC GTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCC CTTTGTCCCTGCTCTTCCCACTCTCTGTGGGCGTCTCAGCCCGTTGTCCC TGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCC CACCCGCTGTGGGCGTCTCAGCC	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1025124	C C	CCGCTGTG others(444): Show CCGCTGTGGGCGTCCCAGCCCTTTGTCCCTGCTCTTCCCACTCTCTGTGG GCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAG CCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTC CCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTT CCCACCCGCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGC TGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGT CTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCG TTGTCCCTGCTCTTCCCACCCTCTGTGGGTGTCCCAGCCCGTTGTCCCTG CTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCA CG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02818.hp2 HG03209.hp2 HG01261.hp1 HG02818.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0062 a0001c0001t0004g0060 a0001c0001t0004g0061 a0001c0001t0001g0062 a0001c0001t0004g0060 a0001c0001t0004g0061	3	319	0.0094	451	c.142 others(468): Show c.142-6658_142-6657insTCTGTGGGTGTCCCAGCCCGTTGTCCCT GCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCC ACGCGCTGTGGGCGTCCCAGCCCTTTGTCCCTGCTCTTCCCACTCTCTGT GGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTC AGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTTG TCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTC TTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCC GCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGC GTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCC CGTTGTCCCTGCTCTTCCCACCC	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NME4_chr16_392199_405754	397707	T T	TGTGGGGG others(444): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGG GGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	356	0.0028	451	c.91+ others(464): Show c.91+432_91+433insGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAG TCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTG AGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGG TGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGG GAGTTGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar

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