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
KIF25_chr6_167992671_168050091	167997208	G G	GGGGGCGG others(606): Show GGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGG GGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGG GCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGG GGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGT CGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGC GACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGC GACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGG CGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGGCG GGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGTCGG GGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGGGCG GGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGG GGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGG GAATCTGCAGAGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0005 a0010c0011t0005	a0010c0011t0005g0363 a0010c0011t0005g0363	1	304	0.0033	613	c.-22 others(624): Show c.-2261_-2260insGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGG AATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAA TCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAA TCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAAT CTGCAGAGATGGGGTCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAAT CTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGAAT CTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGAAT CTGCAGAGATGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCT GCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGC AGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTG CAGAGATGGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGC AGAGATGGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCA GAGATGGGGGCGGGGGAATCTGCAGAGGT	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		462		chr6	TogoVar
LMF1_chr16_848634_975984	857706	C C	CAGTGGTG others(606): Show CAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGT GGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGT GTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGT CTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCT CGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGG ACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGG GTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGT GTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGC AGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCGT GGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCGT GGTGTCTCGGGACGGGTGTGCGTGGTGTCTCGGGACGGGTGTGCGTGGTG TCTCGGACGGGTGTGCGTGGTGTCACGGGATGGGTGTGCAGTGGTGTCTC GGGATGGGTGTGCA	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0001 a0002c0016t0001	a0002c0016t0001g0063 a0002c0016t0001g0063	1	82	0.0122	613	c.153 others(632): Show c.1530-3001_1530-3000insTGCACACCCATCCCGAGACACCACTG CACACCCATCCCGTGACACCACGCACACCCGTCCGAGACACCACGCACAC CCGTCCCGAGACACCACGCACACCCGTCCCGAGACACCACGCACACCCGT CCCGAGACACCACTGCACACCCGTCCCGTGACACCACCACGCACACCCGT CCCGAGACACCACTGCACACCCGTCCCGTGACACCACTGCACACCCGTCC CGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAG ACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGAC ACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCA CTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGACACCACTGC ACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCAC ACCCGTCCCGTGACACCACTGCACACCCGTCCCGAGACACCACTGCACAC CCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGT CCCGTGACACCACTCACACCCGTCCCGAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(606): Show AAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAA GGAGGGGGAAGGAGGGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAGAAG GGGAGGGGCAGGGGGAGGGGGAAAAGGGGCGGGGAAGGGGGGAAAAGGGG CGGGGGGAAGGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGT GAGGGGAAGGGGGGAAGGGGGAAAGGGGTGAGGGGAGGATGGAGGGGGAG GGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGGAG GGGAGGGGAGGGGAGGGGGGAGGGGAGGGGGGAGGGGGAGGGTAGGGGGG AGGTGGAGGGGAGGGGGGAGGGGGAGGGGGGGAGGGGGAGGGGAGGGGGA GGGAAGAGGGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGAGGGAGGGGGA GGGAAGGGAGGGAGGGGAGGGGGAGGGAGGGGAGGGGAGTGGAGGGGGAG GGGGAGGGAGGAGGGATGGGAGTGGAGGGGGAGGGGGAGGGAGGGGAGGG GAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGGAGGGGGAGGGAGGGGAGG GGGAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA19066.hp1 NA18945.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0186 a0001c0001t0003g0195 a0001c0001t0003g0186 a0001c0001t0003g0195	2	9	0.2222	613	c.250 others(628): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCC CCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCC CTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCTCTCCC TCCCTTCCCTCCCCCTCCCCCTCCCCCTCTTCCCTCCCCCTCCCCTCCCC CTCCCCCCCTCCCCCTCCCCCCTCCCCTCCACCTCCCCCCTACCCTCCCC CTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCC CTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCATCCTC CCCTCACCCCTTTCCCCCTTCCCCCCTTCCCCTCACCCCTTTCCCCTTCC CCCCTTCCCCCCACCCCTTTCCCCCTTCCCCCCGCCCCTTTTCCCCCCTT CCCCGCCCCTTTTCCCCCTCCCCCTGCCCCTCCCCTTCTCCCCTCCCCCT TTCCGCCTTCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCC CTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(606): Show TCTGCTCTCCCCTCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCTCTCCCCTCCCCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCTCT CTTCCCTCCCCTCCCCTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCC CGTCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTC CTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTC CCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTC CCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCC TCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCC TCCTCCCCTCCTCCCCTCTCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCC CCTCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCTCCCC TCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCTCCTCCT CCCCTCCCCTCTCCTCCTCCCCTCCCCTCCCATCCCCTCCTCCCCTCCCC TCCCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	4	0.2500	613	c.114 others(632): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCCCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCTC CTCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCCCTCTCCCCTCCCGT CTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCTCCCCTCCCCTCCCCTC CTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTC CTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTC CCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTC CCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCC TCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCTCCTCCCCTCC TCCCCTCCCCTCCCCTCCTCCCCTCCTCCTCTCCCCTCCCCTCCCCTCTC CCCTCCCCTCCCCCTCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCT CCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTC CCATCCCCTCCTCCCCTCCCCTCCCCCCTCCTCCCCT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MSR1_chr8_16102881_16197651	16189400	A A	ATATTTAT others(606): Show ATATTTATATATATTTTTATATATATAAAATCATATTTTATATATATTTT ATATATTATATATATAAAATCTTATTTTATATATTATATATATATAAAAT CTTACTTTATATATATTTTATATATATAAAATCTTACTTTATATATATTT TATATATATAAAATCTTACTTTATATATATTTTATATATATAAAATCTTA CTTTATATATATTTTATATATATAAAATCTTACTTTATATATATTTTATA TATATAAAATCTTACTTTATATATATTTTATATATATAAAATCTTACTTT ATATATATTTTATATATATAAAATCTTACTTTATATATATTTTATATATA TAAAATCTTACTTTATATATATTTTATATATATAAAATCTTACTTTATAT ATATTTTATATATATAAAATCTTACTTTATATATATTTTATATATATAAA ATCTTATTTTATATATATTTTATATATATAAAATCTTATTTTATATATAT TTTATATATATAAAATCTTATTTTATATATATTTTATATATATAAAATCT TATTTTATATATATTTTATATATATAAAATCTTATTTTATATATATTTTA TATATATAAAATCT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0004 a0001c0011t0004	a0001c0011t0004g0071 a0001c0011t0004g0071	1	274	0.0036	613	c.-5+ others(628): Show c.-5+3197_-5+3198insAGATTTTATATATATAAAATATATATAAAA TAAGATTTTATATATATAAAATATATATAAAATAAGATTTTATATATATA AAATATATATAAAATAAGATTTTATATATATAAAATATATATAAAATAAG ATTTTATATATATAAAATATATATAAAATAAGATTTTATATATATAAAAT ATATATAAAGTAAGATTTTATATATATAAAATATATATAAAGTAAGATTT TATATATATAAAATATATATAAAGTAAGATTTTATATATATAAAATATAT ATAAAGTAAGATTTTATATATATAAAATATATATAAAGTAAGATTTTATA TATATAAAATATATATAAAGTAAGATTTTATATATATAAAATATATATAA AGTAAGATTTTATATATATAAAATATATATAAAGTAAGATTTTATATATA TAAAATATATATAAAGTAAGATTTTATATATATAAAATATATATAAAGTA AGATTTTATATATATAAAATATATATAAAGTAAGATTTTATATATATATA ATATATAAAATAAGATTTTATATATATAATATATAAAATATATATAAAAT ATGATTTTATATATATAAAAATATATATAAATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MSR1_chr8_16102881_16197651	16189400	A A	ATATTTAT others(606): Show ATATTTATATATATTTTTATATATATAAAATCATATTTTATATATATTTT ATATATTATATATATAAAATCTTATTTTATATATTATATATATATAAAAT CTTATTTTATATATATTTTATATATATAAAATCTTATTTTATATATATTT TATATATATAAAATCTTATTTTATATATATTTTATATATATAAAATCTTA TTTTATATATATTTTATATATATTTTATATATATAAAATCTTATTTTATA TATATTTTATATATATAAAATCTTATTTTATATATATTTTATATATATAA AATCTTATTTTATATATATTTTATATATATAAAATCTTATTTTATATATA TAAAATCTTATTTTATATATATTTTATATATATAAAATCTTATTTTATAT ATATTTTATATATATAAAATCTTATTTTATATATATTTTATATATATAAA ATCTTATTTTATATATATTTTATATATATAAAATCTTATTTTATATATAT TTTATATATATAAAATCTTATTTTATATATATTTTATATATATAAAATCT TATTTTATATATATTTTATATATATAAAATCTTATTTTATATATATTTTA TATATATAAAATCT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0082 a0001c0001t0018g0082	1	274	0.0036	613	c.-5+ others(628): Show c.-5+3197_-5+3198insAGATTTTATATATATAAAATATATATAAAA TAAGATTTTATATATATAAAATATATATAAAATAAGATTTTATATATATA AAATATATATAAAATAAGATTTTATATATATAAAATATATATAAAATAAG ATTTTATATATATAAAATATATATAAAATAAGATTTTATATATATAAAAT ATATATAAAATAAGATTTTATATATATAAAATATATATAAAATAAGATTT TATATATATAAAATATATATAAAATAAGATTTTATATATATAAAATAAGA TTTTATATATATAAAATATATATAAAATAAGATTTTATATATATAAAATA TATATAAAATAAGATTTTATATATATAAAATATATATAAAATAAGATTTT ATATATATAAAATATATATAAAATATATATAAAATAAGATTTTATATATA TAAAATATATATAAAATAAGATTTTATATATATAAAATATATATAAAATA AGATTTTATATATATAAAATATATATAAAATAAGATTTTATATATATATA ATATATAAAATAAGATTTTATATATATAATATATAAAATATATATAAAAT ATGATTTTATATATATAAAAATATATATAAATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
NCAPG2_chr7_158626169_158709804	158667982	T T	TTCCTTAC others(606): Show TTCCTTACCGACCCTGGGTCCCTCCGCCCCCCGTTACCCACTACTGGGTC CCTCTGCCCTCCTTACCTACCTTGTGTCCCTAGGCCCTCCCTTACCCACT ACTGGGTCCCTCCGCCCTCCCTTACCCACAACTGGGTCCCTCCGCCCTCC TTACCCACAACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTC TGCCCTCCTTACCTACCTTGTGTCCCTAGGCCCTCCCTTACCCACTACTG GGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCCCCCTTA CCCACAACTGGGTCCCTCCGCCCTCCTTACCCACAACTGGGTCCCTCCGC CCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACAACTGGGT CCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCAC TACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCC TTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTC CGCCCTCCCTTACCCACAACTGGGTCCCTCCGCCCTCCTTACCCACTACT GGGTCCCTCCGCCC	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0283 a0001c0001t0001g0283	1	154	0.0065	613	c.148 others(632): Show c.1480-3233_1480-3232insGGGCGGAGGGACCCAGTAGTGGGTAA GGAGGGCGGAGGGACCCAGTTGTGGGTAAGGGAGGGCGGAGGGACCCAGT AGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGG GACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGAG GGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTTGTGG GTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCC AGTTGTGGGTAAGGAGGGCGGAGGGACCCAGTTGTGGGTAAGGGGGGGCG GAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTA AGGGAGGGCCTAGGGACACAAGGTAGGTAAGGAGGGCAGAGGGACCCAGT AGTGGGTAAGGAGGGCGGAGGGACCCAGTTGTGGGTAAGGAGGGCGGAGG GACCCAGTTGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGG AGGGCCTAGGGACACAAGGTAGGTAAGGAGGGCAGAGGGACCCAGTAGTG GGTAACGGGGGGCGGAGGGACCCAGGGTCGGTAAGGA	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NOC4L_chr12_132139457_132157468	132149061	T T	TAATCCCC others(606): Show TAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCC CCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGG TGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCG CCTCACTCACACCACACCCCAATCCCCTCGGTGAGTGCCGCCGCCTCGCT CCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCC CAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCACACCCCTAATCC CCTCGGTGAGTGCCGCCGCCTCGCTCCTACCACACCCCTAATCCCCTCGG TGAGTGCCGCCGCCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCG CCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGC TCACACCACACCCC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0001 a0003c0011t0001	a0003c0011t0001g0208 a0003c0011t0001g0208	1	292	0.0034	613	c.901 others(628): Show c.901+193_901+194insGCTCACACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCC TCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTC ACACCACACCCCAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCAATCCCC TCGGTGAGTGCCGCCGCCTCGCTCCTACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCC TCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTC ACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCA CACCCCAATCCCCTCGGTGAGTGCCGCCGCCTC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NRDC_chr1_51784210_51883727	51852550	G G	GTTTTAAA others(606): Show GTTTTAAACTATATAGTTTATAGTTTTAAACTATATAGTTTATATATAGT TTTAAACTATATAGTTTATATATAGTTTTAAACTATATAGTTTATATATA GTTTTAAACTATATAGTTTATATATAGTTTAAAACTATATAGTTTATATA GTTTAAAACTATATAGTTTATATAGTTTAAAACTATATAGTTTATATAGT TTTAAACTATATAGTTTAAACTACATAGTTTTAAACTATATAAACTATAT AGTTTTAAACTAGTTTATATATAGTTTTAAACTAGTTTAAACTATATAGT TTATGTAGTTTTAAACTATATAGTTTATGTAGTTTTAAACTATATAGTTT ATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTTTTAAACTATATA GTTTTAAACTATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTTTT AAACTATATAGTTTTAAACTATGTAGTTTTAAACTATATAGTTTTAAACT ATGTAGTTTTAAACTATATAGTTCATGTAGTTTTAAACTATATAGTTTAA AACTATATAGTTTATGTAGTTTTAAACTAGTTTATATTTTTTTATATAGT TTAAACTATATAGT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0062 a0001c0002t0001g0062	1	38	0.0263	613	c.342 others(632): Show c.342-12037_342-12036insACTATATAGTTTAAACTATATAAAAA AATATAAACTAGTTTAAAACTACATAAACTATATAGTTTTAAACTATATA GTTTAAAACTACATGAACTATATAGTTTAAAACTACATAGTTTAAAACTA TATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAAACTACATAG TTTAAAACTATATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAA AACTACATAGTTTAAAACTATATAGTTTAAAACTACATAAACTATATAGT TTAAAACTACATAAACTATATAGTTTAAAACTACATAAACTATATAGTTT AAACTAGTTTAAAACTATATATAAACTAGTTTAAAACTATATAGTTTATA TAGTTTAAAACTATGTAGTTTAAACTATATAGTTTAAAACTATATAAACT ATATAGTTTTAAACTATATAAACTATATAGTTTTAAACTATATAAACTAT ATAGTTTTAAACTATATATAAACTATATAGTTTAAAACTATATATAAACT ATATAGTTTAAAACTATATATAAACTATATAGTTTAAAACTATATATAAA CTATATAGTTTAAAACTATAAACTATATAGTTTAAAA	NRDC	ENSG00000078618.23	transcript	ENST00000352171.12	protein_coding	1/30			chr1	TogoVar
NRDC_chr1_51784210_51883727	51852550	G G	GTTTTAAA others(606): Show GTTTTAAACTATATAGTTTATAGTTTTAAACTATATAGTTTATATATAGT TTTAAACTATATAGTTTATATATAGTTTTAAACTATATAGTTTATATATA GTTTTAAACTATATAGTTTATATATAGTTTTAAACTATATAGTTTATATA GTTTAAAACTATATAGTTTATATAGTTTAAAACTATATAGTTTATATAGT TTTAAACTATATAGTTTATATAGTTTTAAACTATATAGTTTAAACTATAT AGTTTTAAACTATATAAACTATATAGTTTTAAACTAGTTTATATATAGTT TTAAACTAGTTTAAACTATATAGTTTATGTAGTTTTAAACTATATAGTTT ATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTTTTAAACTATATA GTTTTAAACTATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTTTT AAACTATATAGTTTTAAACTATGTAGTTTTAAACTATATAGTTTTAAACT ACGTAGTTTTAAACTATATAGTTCATGTAGTTTTAAACTATATAGTTTAA AACTATATAGTTTATGTAGTTTTAAACTAGTTTATATTTTTTTATATAGT TTAAACTATATAGT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0238 a0001c0006t0001g0238	1	38	0.0263	613	c.342 others(632): Show c.342-12037_342-12036insACTATATAGTTTAAACTATATAAAAA AATATAAACTAGTTTAAAACTACATAAACTATATAGTTTTAAACTATATA GTTTAAAACTACATGAACTATATAGTTTAAAACTACGTAGTTTAAAACTA TATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAAACTACATAG TTTAAAACTATATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAA AACTACATAGTTTAAAACTATATAGTTTAAAACTACATAAACTATATAGT TTAAAACTACATAAACTATATAGTTTAAACTAGTTTAAAACTATATATAA ACTAGTTTAAAACTATATAGTTTATATAGTTTAAAACTATATAGTTTAAA CTATATAGTTTAAAACTATATAAACTATATAGTTTAAAACTATATAAACT ATATAGTTTTAAACTATATAAACTATATAGTTTTAAACTATATAAACTAT ATAGTTTAAAACTATATATAAACTATATAGTTTAAAACTATATATAAACT ATATAGTTTAAAACTATATATAAACTATATAGTTTAAAACTATATATAAA CTATATAGTTTAAAACTATAAACTATATAGTTTAAAA	NRDC	ENSG00000078618.23	transcript	ENST00000352171.12	protein_coding	1/30			chr1	TogoVar
NRXN2_chr11_64601174_64728197	64706162	A A	ATATATAA others(606): Show ATATATAATATATATTATATATATAAAGTATATATATAATATATATAATA TATATTATATATATAAAGTATATATATAATATATATAATATATATTATAT ATATAAAGTATATATATAATATATATAATATATATAAAGTATATATATAA TATATATAATATATATTATATATATAAAGTATATATATAATATATATAAT ATATATTATATATATAAAGTATATATATTATATATATAATATATATTATA TATATAAAGTATATATATAATATATATAATATATATTATATATAAAGTAT ATATATAATATATATAATATATATTATATATATAAAGTATATATATAATA TATATAATATATATTATATATATAAAGTATATATATAATATATATAATAT ATATTATATATATAAAGTATATATATAATATATATAATATATATTATATA TATAAAGTATATATATAATATATATAATATATATTATATATATAAAGTAT ATATATAATATATATTATATATAAAGTATATATATAATATATATTATATA TAAAGTATATATATAATATATATTATATATATATAAAATATATAATATAT ATTATATATATAAG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0160 a0001c0001t0004g0160	1	2	0.5000	613	c.730 others(630): Show c.730+6807_730+6808insCTTATATATATAATATATATTATATATT TTATATATATATAATATATATTATATATATACTTTATATATAATATATAT TATATATATACTTTATATATAATATATATTATATATATACTTTATATATA TAATATATATTATATATATTATATATATACTTTATATATATAATATATAT TATATATATTATATATATACTTTATATATATAATATATATTATATATATT ATATATATACTTTATATATATAATATATATTATATATATTATATATATAC TTTATATATATAATATATATTATATATATTATATATATACTTTATATATA ATATATATTATATATATTATATATATACTTTATATATATAATATATATTA TATATATAATATATATACTTTATATATATAATATATATTATATATATTAT ATATATACTTTATATATATAATATATATTATATATATTATATATATACTT TATATATATTATATATATTATATATATACTTTATATATATAATATATATT ATATATATTATATATATACTTTATATATATAATATATATTATATATATTA TATATATACTTTATATATATAATATATATTATATA	NRXN2	ENSG00000110076.21	transcript	ENST00000265459.11	protein_coding	2/22			chr11	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(606): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTGTCCCCTCCCCTCCCACCCTCCCCCCCTCCCCTTCCCCTCCCCTCC CCCTTCCCCTTCCCCTCCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCC TTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTCC CCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTTCCCTCTCCCC TTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0167 a0001c0001t0027g0167	1	30	0.0333	613	c.433 others(630): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGA GAGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGG GAAGGGGAAGGGGGAGGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAA GGGGAGGGGGGGAGGGTGGGAGGGGAGGGGACAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NXN_chr17_794310_984776	841635	T T	TCCCCCCG others(606): Show TCCCCCCGACCACGGCGCATCTCACACGGGCAAGCAGGTCCCCCCTGACC ACGGAGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGAGCATCT CACACGGGCGAGCAGGTCCCCCCGACCACAGAGCATCTCACACGGGCGAG CAGGTCCCCCCGACCACGGCGCATCTCACGCCGGCGAGCAGGTCCCCCCT GACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCGACCACGGCGCA TCTCACACCCACAGGCAGGTCCCCCCGACCACGGCGCATCTCACACGGGC GAGCAGGTCCACCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCC CCCGACCACGGCGCATCTCACACCCACAGGCAGGCCCCCCCGACCACGGC GCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCATGC CGGCGAGCAGGTCCCCCCGACCACGGCGCATCTCACACCCACGGGCAGGT CCCCCCGACCACGGCGCATCTCACACGGGCGAGCAGGTCCACCCTGACCA CGGCGCATCTCACACGGGCGAGCAGGTCCCCCCGACCACGGCGCATCTCA CACCCACAGGCAGG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	240	0.0042	613	c.361 others(632): Show c.361-15558_361-15557insCCTGCCTGTGGGTGTGAGATGCGCCG TGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGG ACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCCCGTGG GTGTGAGATGCGCCGTGGTCGGGGGGACCTGCTCGCCGGCATGAGATGCG CCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGGG GGGGCCTGCCTGTGGGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCTCG CCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGA TGCGCCGTGGTCGGGGGGACCTGCCTGTGGGTGTGAGATGCGCCGTGGTC GGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGGGGACCTG CTCGCCGGCGTGAGATGCGCCGTGGTCGGGGGGACCTGCTCGCCCGTGTG AGATGCTCTGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTG GTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGGGGA CCTGCTTGCCCGTGTGAGATGCGCCGTGGTCGGGGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OPHN1_chrX_68037344_68438495	68326722	A A	AGGGAGGT others(606): Show AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGT CGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCCGTCCAGGA GGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCTCCCGGAGGTGGGG GGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGC CTCTGCCCGGCCGCCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCC AGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCA GCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCGCCCGGCCA GCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAG CCGCCCCGTCCGGG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0033 a0001c0001t0004g0033	1	59	0.0169	613	c.155 others(632): Show c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG GGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGG GGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGG GGGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCAGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCGG GAGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTGGACGGGG CGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCCCCCCCCC CCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
PCBP3_chr21_45638725_45947450	45746956	T T	TTGTGTCA others(606): Show TTGTGTCAGCATCGCCGTGTCAGTCCACTGACGTAGCGCACACGGTGTTG TGTCAGCATCGCCGTGTCAGTCCACTGACGTAGCGCACACGGTGTTGTGT CAGCATCGCCGTGTCAGTCCACTGACGTAGCGCACACGGTGTTGTGTCAG CATCGCCGTGTCAGTCCACTGACGTAGCGCACACGGTGTTGTGTCAGCAT CGCCGTGTCAGTCCACTGACGTAGCGCACACGGTGTTGTGTCAGCATCGC CGTGTCAGTCCACTGACGTAGCGCACACGGTGTTGTGTCAGCATCGCCGT GTCAGTCCACTGACGTAGCGCACACGGTGTTGTGTCAGCATCGCCGTGTC AGTCCACTGACGTAGCGCACACGGTGTTGTGTCAGCATCGCCGTGTCAGT CCACTGACGTAGCGCACACGGTGTTGTGTCAGCATCGCCGTGTCAGTCCA CTGACGTAGCGCACACGGTGTTGTGTCAGCATCGCCGTGTCAGTCCACTG ACGTAGCGCACACGGTGTTGTGTCAGCATCGCCGTGTCAGTCCACTGACG TAGCGCACACGGTGTTGTGTCAGCATCGCCGTGTCAGTCCACTGACGTAG CTCACACGGTGTTG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0098 a0001c0001t0017g0098	1	283	0.0035	613	c.-16 others(632): Show c.-161-8458_-161-8457insGTCAGCATCGCCGTGTCAGTCCACTG ACGTAGCGCACACGGTGTTGTGTCAGCATCGCCGTGTCAGTCCACTGACG TAGCGCACACGGTGTTGTGTCAGCATCGCCGTGTCAGTCCACTGACGTAG CGCACACGGTGTTGTGTCAGCATCGCCGTGTCAGTCCACTGACGTAGCGC ACACGGTGTTGTGTCAGCATCGCCGTGTCAGTCCACTGACGTAGCGCACA CGGTGTTGTGTCAGCATCGCCGTGTCAGTCCACTGACGTAGCGCACACGG TGTTGTGTCAGCATCGCCGTGTCAGTCCACTGACGTAGCGCACACGGTGT TGTGTCAGCATCGCCGTGTCAGTCCACTGACGTAGCGCACACGGTGTTGT GTCAGCATCGCCGTGTCAGTCCACTGACGTAGCGCACACGGTGTTGTGTC AGCATCGCCGTGTCAGTCCACTGACGTAGCGCACACGGTGTTGTGTCAGC ATCGCCGTGTCAGTCCACTGACGTAGCGCACACGGTGTTGTGTCAGCATC GCCGTGTCAGTCCACTGACGTAGCGCACACGGTGTTGTGTCAGCATCGCC GTGTCAGTCCACTGACGTAGCTCACACGGTGTTGTGT	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PIEZO1_chr16_88710338_88790220	88731922	A A	AGAGGGCG others(606): Show AGAGGGCGGGGCGTGGGGATGCACTGAGTCTGGGGAGAGGGCGGGGCATG GGGATGCACTGAGTCTGGGGATGGGCGGGGTGTGGGGATGCACTGAGTCT GGGGGGAGGGGGGGCGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGGTG TGGGGATGCACTGAGTCTGGGGATGGGCGGGGTGTGGGGATGCACTGAGT CTGGGGGAGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGCGGGG TGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGGTGTGGGGATGCACTGA GTCTGGGGATGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGCGG GGTGTGGGGATGCACTGAGTCTGGGGGGAGGGGGGGCGTGGGGATGCACT GAGTCTGGGGAGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGGG GGGTGTGGGGATGCACTGAGTCTGGGGAGGGGGGGGTGTGGGGATGCACT GAGTCTGGGGGGAGGGCGGGGCGTGGGGATGCACTGAGTCTGGGGGGAGG GCGGGGCGTGGGGATGCACTGAGTCTGGGGAGGGGGGGGTGTGGGGATGC ACTGAGTCTGGGGG	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0072 a0001c0002t0001g0072	1	34	0.0294	613	c.299 others(628): Show c.2992-13_2992-12insCCCCCAGACTCAGTGCATCCCCACACCCCC CCCTCCCCAGACTCAGTGCATCCCCACGCCCCGCCCTCCCCCCAGACTCA GTGCATCCCCACGCCCCGCCCTCCCCCCAGACTCAGTGCATCCCCACACC CCCCCCTCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCCCCAGACT CAGTGCATCCCCACACCCCCCCCTCCCCAGACTCAGTGCATCCCCACGCC CCCCCTCCCCCCAGACTCAGTGCATCCCCACACCCCGCCCTCCCCCAGAC TCAGTGCATCCCCACACCCCGCCCATCCCCAGACTCAGTGCATCCCCACA CCCCCCCCTCCCCCAGACTCAGTGCATCCCCACACCCCGCCCTCCCCCAG ACTCAGTGCATCCCCACACCCCGCCCTCCCCCAGACTCAGTGCATCCCCA CACCCCGCCCATCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCCCC AGACTCAGTGCATCCCCACGCCCCCCCTCCCCCCAGACTCAGTGCATCCC CACACCCCGCCCATCCCCAGACTCAGTGCATCCCCATGCCCCGCCCTCTC CCCAGACTCAGTGCATCCCCACGCCCCGCCCTC	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	21/50			chr16	TogoVar
PLD4_chr14_104919879_104938236	104933612	C C	CGGGAGGG others(606): Show CGGGAGGGGAGCGGGGCTGAGGGGACGGGGAGGGCGGGAGGGGAGCGGGG CTGAGGGGACGGGGAGGGCGGGAGGGGACCCGCGGCTGAGGGGACGGGGA GGGCGGGAGGGGAGCGGGGCTGAGGGGACGGGGAGGGCGGGAGGGGAGCG GGGCTGAGGGGACGGGGAGGGCGGGAGGGGACCCGGGGCTGAGTGAGGGG AGGACGGGAGGGGACCCGCGTCTGAGGGGACCGGGAGGGCGGGAGGCGAC CCGGGGCTGAGTGAGGGGAGGGTGGGAGGGGAGCGGGGCTGAGGGGACCG GGAGGGCGGGAGGGGACCTGCGACTGAGGGGACAGGGAGGGCGGGAGGCG ACCCGCGGCTGAGTGAGGGGAGGGTGGGAGGGGACCCGCGGCTGAGGGGA CAGGGAGGGCGGGAGGGGACCCGCGGCTGAGGGGACCGGGAGGGCGGGAG GGGAGCGGGGCTGAGGGGACCGGGAGGGCGGGAGGGGAGCGGGGCTGAGG GGACGGGGAGGGCGGGAGGGGACCCGGGGCTGAGTGAGGGGAGGGCGGGA GGGGACCCGCGTCTGAGGGGACCGGGAGGGCGGGAGGCGACCCGGGGCTG AGTGAGGGGAGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01168.hp2 HG02698.hp1 others(4): Show HG01099.hp1 HG01168.hp2 HG02698.hp1 HG02735.hp2 HG03710.hp1 HG03834.hp1 HG04228.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0007 a0003c0003t0001g0010 a0003c0003t0001g0007 a0003c0003t0001g0010	7	334	0.0210	613	c.64 others(622): Show c.648_*649insGGGAGGGGAGCGGGGCTGAGGGGACGGGGAGGGCGG GAGGGGAGCGGGGCTGAGGGGACGGGGAGGGCGGGAGGGGACCCGCGGCT GAGGGGACGGGGAGGGCGGGAGGGGAGCGGGGCTGAGGGGACGGGGAGGG CGGGAGGGGAGCGGGGCTGAGGGGACGGGGAGGGCGGGAGGGGACCCGGG GCTGAGTGAGGGGAGGACGGGAGGGGACCCGCGTCTGAGGGGACCGGGAG GGCGGGAGGCGACCCGGGGCTGAGTGAGGGGAGGGTGGGAGGGGAGCGGG GCTGAGGGGACCGGGAGGGCGGGAGGGGACCTGCGACTGAGGGGACAGGG AGGGCGGGAGGCGACCCGCGGCTGAGTGAGGGGAGGGTGGGAGGGGACCC GCGGCTGAGGGGACAGGGAGGGCGGGAGGGGACCCGCGGCTGAGGGGACC GGGAGGGCGGGAGGGGAGCGGGGCTGAGGGGACCGGGAGGGCGGGAGGGG AGCGGGGCTGAGGGGACGGGGAGGGCGGGAGGGGACCCGGGGCTGAGTGA GGGGAGGGCGGGAGGGGACCCGCGTCTGAGGGGACCGGGAGGGCGGGAGG CGACCCGGGGCTGAGTGAGGGGAGGGT	PLD4	ENSG00000166428.14	transcript	ENST00000392593.9	protein_coding		377		chr14	TogoVar
POU2F3_chr11_120235140_120324945	120267611	T T	TTGTTTAG others(606): Show TTGTTTAGGACGCAGCTGAGGAAAAGGGGTTAAAGCTCCAGGGAATTCTC TTAGACCCCATTCATTCATCTCTCAGGTGTTTCTTGAGCCTCTTATCCAT GTTAGGAACTGTGGTCATTTTGTGGCCACTGAGGACAAAAAAAAAATGGG TGTCACTGTCCAGCTCTCAAGGAATTCATAGACTAGCAGAAGAGGGAAAC ATACAAAGAGGGAGTGACACAATGAGTGCCACGCAACCAGCAGAGAGGCC TCCCGGATTCCAGAGGGGAGAGGGACTAACTCCATGCGAGGGAGCAGTGC ACGGAGGCACGGTAACGTGAGCGTGTGTGTTAGGATGCAAGTGAGTACTT TGTGTGGCTGGAGCTCAGGGTACCTGGGAGAAAAAGTAAGGTAGGATTGT GAGTGGCATAAGAGCAGAAAAGGTAGGCAGGAGACAGGACATGTGGGGAA TTCCATGTTGTGTCAAGGAATCTGACTTTATTCCAAAGCTATTTTGAGAG TTTTGAATTTGTTTACTCATGCATTCAACCAATGTATTTTGAGCTCCTAC TATATATATATATATGTGTATATATATATATGTATATATATATATATATT ATATATGCATATTA	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0011 a0003c0003t0011	a0003c0003t0011g0280 a0003c0003t0011g0280	1	318	0.0031	613	c.98- others(628): Show c.98-1589_98-1588insGCAGCTGAGGAAAAGGGGTTAAAGCTCCAG GGAATTCTCTTAGACCCCATTCATTCATCTCTCAGGTGTTTCTTGAGCCT CTTATCCATGTTAGGAACTGTGGTCATTTTGTGGCCACTGAGGACAAAAA AAAAATGGGTGTCACTGTCCAGCTCTCAAGGAATTCATAGACTAGCAGAA GAGGGAAACATACAAAGAGGGAGTGACACAATGAGTGCCACGCAACCAGC AGAGAGGCCTCCCGGATTCCAGAGGGGAGAGGGACTAACTCCATGCGAGG GAGCAGTGCACGGAGGCACGGTAACGTGAGCGTGTGTGTTAGGATGCAAG TGAGTACTTTGTGTGGCTGGAGCTCAGGGTACCTGGGAGAAAAAGTAAGG TAGGATTGTGAGTGGCATAAGAGCAGAAAAGGTAGGCAGGAGACAGGACA TGTGGGGAATTCCATGTTGTGTCAAGGAATCTGACTTTATTCCAAAGCTA TTTTGAGAGTTTTGAATTTGTTTACTCATGCATTCAACCAATGTATTTTG AGCTCCTACTATATATATATATATGTGTATATATATATATGTATATATAT ATATATATTATATATGCATATTATGTTTAGGAC	POU2F3	ENSG00000137709.10	transcript	ENST00000543440.7	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PRDM16_chr1_3064203_3443621	3351532	C C	CCTCCTCT others(606): Show CCTCCTCTCTCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTC TCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTC CCTCTCTCCCCCACCTCCCCCCTCCCTCTCTCCCCCTCCTTCTCTCTTCC CCTCCCTCTCTCCCCTCCCTCTCTCCCCTCCCTCTTTCCCCCCTCCCCCT CCTTCTCTCTCCCCTTCCCTCTCTCCCCTCCCTCTCTGTCCCCCTCCCTC TCTCATCCCCTTCCTCTTTCTCTCCCTCCCTCTCCTTCCCCTCCCTCCCA CTCTCCCCCTCCCTCTCTCCCCCTTTCCCTCCCTCTCTCCCCCTCTCTCT CTTCTGCTCCTTCTCTCTCCCCCTTCCTCTCTCCCCTCCCTCTCTGTCCC CCTCCCTCTCTCATCCCCTTCCTCTTTCTCTCCCTCTCTCTTCCCCTCCC TCCCTCTCTCCCCCTCCCTCTGTCCCGTCCCTCTCTCCCCCTCCCTCTCT CCCCTCCCTCTCCTCCCTCTTCCCTCTCTCCCCCTCCCTCTCTCCCCCTC CCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCTTCTCTC TCCCCTCCCTCTCT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02717.hp1 NA21309.hp1 HG00673.hp2 HG02717.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0069 a0001c0001t0001 a0001c0001t0014 a0001c0001t0069	a0001c0001t0001g0055 a0001c0001t0014g0069 a0001c0001t0069g0115 a0001c0001t0001g0055 a0001c0001t0014g0069 a0001c0001t0069g0115	3	150	0.0200	613	c.439 others(632): Show c.439-33619_439-33618insTCCTCTCTCCCCTCCCTCTCTCCCCC TCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTC TCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCACCTCCCCCCTCCCTC TCTCCCCCTCCTTCTCTCTTCCCCTCCCTCTCTCCCCTCCCTCTCTCCCC TCCCTCTTTCCCCCCTCCCCCTCCTTCTCTCTCCCCTTCCCTCTCTCCCC TCCCTCTCTGTCCCCCTCCCTCTCTCATCCCCTTCCTCTTTCTCTCCCTC CCTCTCCTTCCCCTCCCTCCCACTCTCCCCCTCCCTCTCTCCCCCTTTCC CTCCCTCTCTCCCCCTCTCTCTCTTCTGCTCCTTCTCTCTCCCCCTTCCT CTCTCCCCTCCCTCTCTGTCCCCCTCCCTCTCTCATCCCCTTCCTCTTTC TCTCCCTCTCTCTTCCCCTCCCTCCCTCTCTCCCCCTCCCTCTGTCCCGT CCCTCTCTCCCCCTCCCTCTCTCCCCTCCCTCTCCTCCCTCTTCCCTCTC TCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTC CCTCTCTCCCCCTCCTTCTCTCTCCCCTCCCTCTCTC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PXDN_chr2_1626887_1749515	1720160	A A	AGGGAGGG others(606): Show AGGGAGGGATGCAGAGAGAGAGGGAGGGAGGGATGTAGAGAGAGAGAGAG GGAGGGAGGGATGCAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAG AGGGAGGGAGGGATGTAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAG AGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGAGAGGGAGGGAGGGATGC AGAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGGGAGGGAGGG ATGTAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGAGAGGGAG GGAGGGATGCAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGAG AGGGAGGGAGGGATGCAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAG AGAGAGAGGGAGGGATGCAGAGAGAGAGAGAGGGAGGGATGCAGAGAGAG AGAGGGAGGGAGGGATGCAGAGAGAGAGGGAGGGAAGAATGCAGAGAGAG AGAGAGGGAGGGAGGGATGCAGAGAGAGAGAGGGAGGGAGGGATGCAGAG AGAGAGAGATGCACAGAGAGAGGGAGGGATGCAGAGAGAGGGAGGGATGC AGAGAGAGAGGGAG	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18973.hp1 NA18998.hp2 NA18947.hp2 NA18973.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0093 a0001c0001t0002g0094 a0001c0001t0002g0115 a0001c0001t0001g0093 a0001c0001t0002g0094 a0001c0001t0002g0115	3	320	0.0094	613	c.200 others(632): Show c.200+24095_200+24096insCTCCCTCTCTCTCTGCATCCCTCCCT CTCTCTGCATCCCTCCCTCTCTCTGTGCATCTCTCTCTCTCTGCATCCCT CCCTCCCTCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTCTGCAT TCTTCCCTCCCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTGCAT CCCTCCCTCTCTCTCTCTCTGCATCCCTCCCTCTCTCTCTCTCTGCATCC CTCCCTCCCTCTCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTCT GCATCCCTCCCTCCCTCTCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCT CTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTCTACATCCCTCCCTCCCT CTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTCTCTGCATCCCTCCCT CCCTCTCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTCTGCATCC CTCCCTCCCTCTCTCTCTCTCTACATCCCTCCCTCCCTCTCTCTCTGCAT CCCTCCCTCCCTCTCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCT CTACATCCCTCCCTCCCTCTCTCTCTGCATCCCTCCC	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
RABEP2_chr16_28899421_28930238	28915167	T T	TCTCCTGC others(606): Show TCTCCTGCCTCAGCCTCCCCAGGAGCTGGGACTATAGGCACACACCAACA TGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTG CCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCTGCCTGCCTTGGCCTC CCAAAGTGCTGGGATTACAGGCTTGAGCCACCACGCCCGGCTTTTTTTTT TTTTTTTTTAAGAGATGAGGTCGGCCGGGCGCGGTGACTCATGCCTGTAA TCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACAAGGTCAAGAGATC GAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAGTATAA AAATTAGCTGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATCCTTTGAACCCGGGAGGCGGGGGTTGCAGCGAGC CGAGATCACGCCATTGCACTCCAGCCTGGGCAACAGAGTGAGATGCTGTC TCAAAAAAAAAAAAAAAAAAAAAAAGAGATGAGGTCTCGTTCTGTTGCCC AGGCTGGAGTGCAGTGGTGCAGTCGCGTCTCACTGTAGCCCTCATCTCCA GGACTCGAGCCATC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00673.hp2 HG00738.hp1 others(8): Show HG00438.hp1 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG01433.hp2 HG02559.hp1 HG02647.hp2 HG02738.hp1 HG03486.hp2 HG04204.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0062 others(6): Show a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0062 a0001c0001t0001g0067 a0001c0001t0001g0087 a0001c0001t0001g0105 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0247	11	135	0.0815	613	c.433 others(628): Show c.433-386_433-385insGATGGCTCGAGTCCTGGAGATGAGGGCTAC AGTGAGACGCGACTGCACCACTGCACTCCAGCCTGGGCAACAGAACGAGA CCTCATCTCTTTTTTTTTTTTTTTTTTTTTTTGAGACAGCATCTCACTCT GTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCGCTGCAACCCCC GCCTCCCGGGTTCAAAGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCTGCCACCACGCCCAGCTAATTTTTATACTTTTAATAGA GACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTTGT GATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCA CCGCGCCCGGCCGACCTCATCTCTTAAAAAAAAAAAAAAAAAAGCCGGGC GTGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCA GATCACGAGGTCAGGAGTTCGAGACCAGCCTGGGCAACATGGTGAAACCC CATCTCTACTAAAAATACAAAAATTAGCTGGGCATGTTGGTGTGTGCCTA TAGTCCCAGCTCCTGGGGAGGCTGAGGCAGGAG	RABEP2	ENSG00000177548.13	transcript	ENST00000358201.9	protein_coding	3/12			chr16	TogoVar
RABEP2_chr16_28899421_28930238	28915167	T T	TCTCCTGC others(606): Show TCTCCTGCCTCAGCCTCCCCAGGAGCTGGGACTATAGGCACACACCAACA TGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTG CCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCTGCCTGCCTTGGCCTC CCAAAGTGCTGGGATTACAGGCTTGAGCCACCACGCCCGGCTTTTTTTTT TTTTTTTTTAAGAGATGAGGTCGGCCGGGGCGCGGTGACTCATGCCTGTA ATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACAAGGTCAAGAGAT CGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAGTATA AAAATTAGCTGGGGGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCTGGA GGCTGAGGCAGGAGAATCCTTTGAACCCGGGAGGCGGGGGTTGCAGCGAG CCGAGATCACGCCATTGCACTCCAGCCTGGGCAACAGAGTGAGATGCTGT CTCAAAAAAAAAAAAAAAAAAAAAAGAGATGAGGTCTCGTTCTGTTGCCC AGGCTGGAGTGCAGTGGTGCAGTCGCGTCTCACTGTAGCCCTCATCTCCA GGACTCGAGCCATC	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	125	0.0080	613	c.433 others(628): Show c.433-386_433-385insGATGGCTCGAGTCCTGGAGATGAGGGCTAC AGTGAGACGCGACTGCACCACTGCACTCCAGCCTGGGCAACAGAACGAGA CCTCATCTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGCATCTCACTCTG TTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCGCTGCAACCCCCG CCTCCCGGGTTCAAAGGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGA CTACAGGCGCCTGCCACCACCCCCAGCTAATTTTTATACTTTTAATAGAG ACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTTGTG ATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCAC CGCGCCCCGGCCGACCTCATCTCTTAAAAAAAAAAAAAAAAAAGCCGGGC GTGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCA GATCACGAGGTCAGGAGTTCGAGACCAGCCTGGGCAACATGGTGAAACCC CATCTCTACTAAAAATACAAAAATTAGCTGGGCATGTTGGTGTGTGCCTA TAGTCCCAGCTCCTGGGGAGGCTGAGGCAGGAG	RABEP2	ENSG00000177548.13	transcript	ENST00000358201.9	protein_coding	3/12			chr16	TogoVar
RABEP2_chr16_28899421_28930238	28915167	T T	TCTCCTGC others(606): Show TCTCCTGCCTCAGCCTCCCCAGGAGCTGGGACTATAGGCACACACCAACA TGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTG CCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCTGCCTGCCTTGGCCTC CCAAAGTGCTGGGATTACAGGCTTGAGCCACCACGCCCGGCTTTTTTTTT TTTTTTTTTTAAGAGATGAGGTCGGCCGGGCGCGGTGACTCATGCCTGTA ATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACAAGGTCAAGAGAT CGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAGTATA AAAATTAGCTGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATCCTTTGAACCCGGGAGGCGGGGGTTGCAGCGAG CCGAGATCACGCCATTGCACTCCAGCCTGGGCAACAGAGTGAGATGCTGT CTCAAAAAAAAAAAAAAAAAAAAAAGAGATGAGGTCTCGTTCTGTTGCCC AGGCTGGAGTGCAGTGGTGCAGTCGCGTCTCACTGTAGCCCTCATCTCCA GGACTCGAGCCATC	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	125	0.0080	613	c.433 others(628): Show c.433-386_433-385insGATGGCTCGAGTCCTGGAGATGAGGGCTAC AGTGAGACGCGACTGCACCACTGCACTCCAGCCTGGGCAACAGAACGAGA CCTCATCTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGCATCTCACTCTG TTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCGCTGCAACCCCCG CCTCCCGGGTTCAAAGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCTGCCACCACGCCCAGCTAATTTTTATACTTTTAATAGAG ACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTTGTG ATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCAC CGCGCCCGGCCGACCTCATCTCTTAAAAAAAAAAAAAAAAAAAGCCGGGC GTGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCA GATCACGAGGTCAGGAGTTCGAGACCAGCCTGGGCAACATGGTGAAACCC CATCTCTACTAAAAATACAAAAATTAGCTGGGCATGTTGGTGTGTGCCTA TAGTCCCAGCTCCTGGGGAGGCTGAGGCAGGAG	RABEP2	ENSG00000177548.13	transcript	ENST00000358201.9	protein_coding	3/12			chr16	TogoVar
RABEP2_chr16_28899421_28930238	28915167	T T	TCTCCTGC others(606): Show TCTCCTGCCTCAGCCTCCCCAGGAGCTGGGACTATAGGCACACACCAACA TGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTG CCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCTGCCTGCCTTGGCCTC CCAAAGTGCTGGGATTACAGGCTTGAGCCACCACGCCCGGCTTTTTTTTT TTTTTTTTTTAAGAGATGAGGTCGGCCGGGCGCGGTGACTCATGCCTGTA ATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACAAGGTCAAGAGAT CGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAGTATA AAAATTAGCTGGGGGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATCCTTTGAACCCGGGAGGCGGGGGTTGCAGCGAG CCGAGATCACGCCATTGCACTCCAGCCTGGGCAACAGAGTGAGATGCTGT CTCAAAAAAAAAAAAAAAAAAAAAAGAGATGAGGTCTCGTTCTGTTGCCC AGGCTGGAGTGCAGTGGTGCAGTCGCGTCTCACTGTAGCCCTCATCTCCA GGACTCGAGCCATC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	125	0.0080	613	c.433 others(628): Show c.433-386_433-385insGATGGCTCGAGTCCTGGAGATGAGGGCTAC AGTGAGACGCGACTGCACCACTGCACTCCAGCCTGGGCAACAGAACGAGA CCTCATCTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGCATCTCACTCTG TTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCGCTGCAACCCCCG CCTCCCGGGTTCAAAGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCTGCCACCACCCCCAGCTAATTTTTATACTTTTAATAGAG ACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTTGTG ATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCAC CGCGCCCGGCCGACCTCATCTCTTAAAAAAAAAAAAAAAAAAAGCCGGGC GTGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCA GATCACGAGGTCAGGAGTTCGAGACCAGCCTGGGCAACATGGTGAAACCC CATCTCTACTAAAAATACAAAAATTAGCTGGGCATGTTGGTGTGTGCCTA TAGTCCCAGCTCCTGGGGAGGCTGAGGCAGGAG	RABEP2	ENSG00000177548.13	transcript	ENST00000358201.9	protein_coding	3/12			chr16	TogoVar
RABEP2_chr16_28899421_28930238	28915167	T T	TCTCCTGC others(606): Show TCTCCTGCCTCAGCCTCCCCAGGAGCTGGGACTATAGGCACACACCAACA TGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTG CCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCTGCCTGCCTTGGCCTC CCAAAGTGCTGGGATTACAGGCTTGAGCCACCACGCCCGGCTTTTTTTTT TTTTTTTTTTTAAGAGATGAGGTCGGCCGGGCGCGGTGACTCATGCCTGT AATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACAAGGTCAAGAGA TCGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAGTAT AAAAATTAGCTGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATCCTTTGAACCCGGGAGGCGGGGGTTGCAGCGA GCCGAGATCACGCCATTGCACTCCAGCCTGGGCAACAGAGTGAGATGCTG TCTCAAAAAAAAAAAAAAAAAAAAAGAGATGAGGTCTCGTTCTGTTGCCC AGGCTGGAGTGCAGTGGTGCAGTCGCGTCTCACTGTAGCCCTCATCTCCA GGACTCGAGCCATC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01891.hp2 HG02055.hp2 others(12): Show HG01106.hp2 HG01891.hp2 HG02055.hp2 HG02257.hp2 HG02258.hp1 HG02451.hp1 HG02559.hp2 HG02622.hp2 HG02630.hp1 HG02922.hp2 HG02976.hp1 HG03139.hp1 HG03225.hp2 HG03453.hp1 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0001 a0002c0002t0001 a0001c0003t0001 a0002c0002t0001	a0001c0003t0001g0221 a0001c0003t0001g0222 a0001c0003t0001g0236 others(11): Show a0001c0003t0001g0221 a0001c0003t0001g0222 a0001c0003t0001g0236 a0002c0002t0001g0042 a0002c0002t0001g0261 a0002c0002t0001g0262 a0002c0002t0001g0263 a0002c0002t0001g0264 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0002t0001g0267 a0002c0002t0001g0268 a0002c0002t0001g0269 a0002c0002t0001g0271	15	139	0.1079	613	c.433 others(628): Show c.433-386_433-385insGATGGCTCGAGTCCTGGAGATGAGGGCTAC AGTGAGACGCGACTGCACCACTGCACTCCAGCCTGGGCAACAGAACGAGA CCTCATCTCTTTTTTTTTTTTTTTTTTTTTGAGACAGCATCTCACTCTGT TGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCGCTGCAACCCCCGC CTCCCGGGTTCAAAGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCTGCCACCACGCCCAGCTAATTTTTATACTTTTAATAGAGA CGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTTGTGA TCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACC GCGCCCGGCCGACCTCATCTCTTAAAAAAAAAAAAAAAAAAAAGCCGGGC GTGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCA GATCACGAGGTCAGGAGTTCGAGACCAGCCTGGGCAACATGGTGAAACCC CATCTCTACTAAAAATACAAAAATTAGCTGGGCATGTTGGTGTGTGCCTA TAGTCCCAGCTCCTGGGGAGGCTGAGGCAGGAG	RABEP2	ENSG00000177548.13	transcript	ENST00000358201.9	protein_coding	3/12			chr16	TogoVar
RABL6_chr9_136802948_136846187	136803145	G G	GCCGGGGG others(606): Show GCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGT CAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCT TGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCC CCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAG GGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATG GGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCC CTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGG GGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGC TCAGGGCCCAGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0080 a0002c0002t0008g0080	1	187	0.0053	613	c.-50 others(624): Show c.-5052_-5051insCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGG GCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAA GGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGG ATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCC CAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGC CCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGG TCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTC TTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGC CCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCA GGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGAT GGGGTCAAGGTGAGCTCAGGGCCCAGGGC	RABL6	ENSG00000196642.19	transcript	ENST00000311502.12	protein_coding		4802		chr9	TogoVar
RBPMS_chr8_30379541_30577256	30388607	A A	ATAAGCTA others(606): Show ATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTT ATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCT AACTTATAACTTATAGCTATAGCTGTAAGCTAACTTATAACTTATAGCTA TAGCTGTAAGCTAACTTATAGCTATAGCTGTAAGCTAACTTATAACTTAT AGCTATAGCTGTAAGCTAACTTATAACTTATAGCTATAGCTGTAAGCTAA CTTATAACTTATAGCTATAGCTGTAAGCTAACTTATAACTTATAGCTATA GCTGTAAGCTAACTTATAACTTATAGCTATAGCTGTAAGCTAACTTATAA CTTATAGCTATAGCTGTAAGCTAACTTATAACTTATAGCTATAGCTGTAA GCTAACTTATAACTTATAGCTATAGCTGTAAGCTAACTTATAACTTATAG CTATAGCTGTAAGCTAACTTATAACTTATAGCTATAGCTGTAAGCTAACT TATAACTTATAGCTATAGCTGTAAGCTAACTTATAACTTATAGCTATAGC TGTAAGCTAACTTATAACTTATAGCTATAGCTGTAAGCTAACTTATAACT TATAGCTATAGCTG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01952.hp2 HG01361.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0144 a0001c0001t0005g0143 a0001c0001t0002g0144 a0001c0001t0005g0143	2	302	0.0066	613	c.66+ others(628): Show c.66+3483_66+3484insGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTGTAAGCTAACTTATAACTTATAGCTATAGCTGTAAGCTAAC TTATAGCTATAGCTGTAAGCTAACTTATAACTTATAGCTATAGCTGTAAG CTAACTTATAACTTATAGCTATAGCTGTAAGCTAACTTATAACTTATAGC TATAGCTGTAAGCTAACTTATAACTTATAGCTATAGCTGTAAGCTAACTT ATAACTTATAGCTATAGCTGTAAGCTAACTTATAACTTATAGCTATAGCT GTAAGCTAACTTATAACTTATAGCTATAGCTGTAAGCTAACTTATAACTT ATAGCTATAGCTGTAAGCTAACTTATAACTTATAGCTATAGCTGTAAGCT AACTTATAACTTATAGCTATAGCTGTAAGCTAACTTATAACTTATAGCTA TAGCTGTAAGCTAACTTATAACTTATAGCTATAGCTGTAAGCTAACTTAT AACTTATAGCTATAGCTGTAAGCTAACTTATAACTTATAGCTATAGCTGT AAGCTAACTTATAACTTATAGCTATAGCTATAA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RC3H2_chr9_122839556_122910359	122867231	T T	TGGGGGGG others(606): Show TGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCAGCCACCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC AGCCAGCCGCTCCGTCCGGGAGGGAGGTTGGGGGGTCAGCACCCCGCCCG GCCAGCCACCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGG CCAGCCGCCCTGTCGGGGATGTGAGGGGCGCCTCTGCCCGGCCGCCTATC GTCTGGGACGTGAGGAGCCCCTCTGCCTGGCTGCCCAGTCTGGAAAGTGA GAAGCGTCTGCCCGGCCGCCATCCCATCTAGGAAGTGAGGAGCGTCTCTG CCCGGCCACCCATTGTCTGAGATGTGGGGAGCGCCTTTGCCCCACCGCCC CGTCTGGGATGTGAGGAGCGCCTCTGCCTGGCCGCGACCCCGTCTGGGAG GTGAGGAGCGTCTCTGCCCAGCCGCCCCGTCTGAGAAGGGAGGAGACCCT CCGCCCGGCAACCGCCCCGTCTGAGAAGTGAGGAGCCCCTCCGCCCGGCA GCCGGCCCATCTGAGAAGTGAGGAGCGTCTCCGCCCGGCAGCCACCCCGT CCGGGAGGGAGGTG	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18971.hp2 NA18955.hp1 NA18971.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0137 a0001c0002t0002g0144 a0001c0002t0002g0137 a0001c0002t0002g0144	2	318	0.0063	613	c.132 others(632): Show c.1326-1575_1326-1574insCACCTCCCTCCCGGACGGGGTGGCTG CCGGGCGGAGACGCTCCTCACTTCTCAGATGGGCCGGCTGCCGGGCGGAG GGGCTCCTCACTTCTCAGACGGGGCGGTTGCCGGGCGGAGGGTCTCCTCC CTTCTCAGACGGGGCGGCTGGGCAGAGACGCTCCTCACCTCCCAGACGGG GTCGCGGCCAGGCAGAGGCGCTCCTCACATCCCAGACGGGGCGGTGGGGC AAAGGCGCTCCCCACATCTCAGACAATGGGTGGCCGGGCAGAGACGCTCC TCACTTCCTAGATGGGATGGCGGCCGGGCAGACGCTTCTCACTTTCCAGA CTGGGCAGCCAGGCAGAGGGGCTCCTCACGTCCCAGACGATAGGCGGCCG GGCAGAGGCGCCCCTCACATCCCCGACAGGGCGGCTGGCCGGGCGGGGGG CTGACCCCCCCACCTCCCTCCTGGACGGGGTGGCTGGCCGGGCGGGGTGC TGACCCCCCAACCTCCCTCCCGGACGGAGCGGCTGGCTGGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGTGGCTGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC	RC3H2	ENSG00000056586.16	transcript	ENST00000357244.7	protein_coding	9/20			chr9	TogoVar
RNF213_chr17_80255852_80403794	80274587	T T	TGGGGGGG others(606): Show TGGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGG GGTGAGTGGGGTGAGTGTGGGGAGTGGAGTGGGGTGAGTGTGGGAGGTGA GTGGGTGAGTGTGGGGGGGTGTAGTGGGGTGGGTGAGTGTGGGGTGGTGA GTGGGGGTGAGTGTGGGGGGGGGGTGAGTGGGGTGAGTGGGGTGAGTGGG GTGAATGTGGGGGTGAGTGGGGTGAGTGTGGGGGGGTGAGTGGGGGTGAT GGGGGTGAGTGGGGTGAGTTGTGGGTGGGGTGAGCGGGGTGAGTGTGGGG GGTGAGTGGGGTGAGTGTGGGGAGTGAGTGGGGTGAGTGTGGGGTGATGG GGTGAGTGTGGGGGGTGAGGGGGGTGAGTGGGTGGTTCTGTGGGGGGGTG AGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGAGTGGGGGGTGAGTGGG GTGAGTGGGGGGTGAGTGGGGTGTCTGGGGGGTGAGTGGGGGTGAGTGGG GGGTGAGTGGGGTGAGTGGGTGTGGGGGGTGAGTGGGGTGAGTGTGTGGG GTGAGTGGGGTGTCTGTGGGGGGGTGAGTGGGGTGAGTGTGGGGGGGTGA GTGGGGTGGAGTGG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0012 a0012	a0012c0012 a0012c0012	a0012c0012t0042 a0012c0012t0042	a0012c0012t0042g0221 a0012c0012t0042g0221	1	85	0.0118	613	c.261 others(630): Show c.261+1189_261+1190insGTGAGTGGGGTGAGTGTGGGGGGTGAGT GGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGAGTGGAGTGGGGT GAGTGTGGGAGGTGAGTGGGTGAGTGTGGGGGGGTGTAGTGGGGTGGGTG AGTGTGGGGTGGTGAGTGGGGGTGAGTGTGGGGGGGGGGTGAGTGGGGTG AGTGGGGTGAGTGGGGTGAATGTGGGGGTGAGTGGGGTGAGTGTGGGGGG GTGAGTGGGGGTGATGGGGGTGAGTGGGGTGAGTTGTGGGTGGGGTGAGC GGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGAGTGAGTGGGGTG AGTGTGGGGTGATGGGGTGAGTGTGGGGGGTGAGGGGGGTGAGTGGGTGG TTCTGTGGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGAG TGGGGGGTGAGTGGGGTGAGTGGGGGGTGAGTGGGGTGTCTGGGGGGTGA GTGGGGGTGAGTGGGGGGTGAGTGGGGTGAGTGGGTGTGGGGGGTGAGTG GGGTGAGTGTGTGGGGTGAGTGGGGTGTCTGTGGGGGGGTGAGTGGGGTG AGTGTGGGGGGGTGAGTGGGGTGGAGTGGGGGGGG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	3/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPH3AL_chr17_207389_357807	305094	G G	GGGGGACA others(606): Show GGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGGACAGGGCGAGAGG GGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGG GACACGGCGAGAGGGGGACAGGGCGGGAGGGGCACAGGGCGAGAGGGGGA CAGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGACAGG GCAAGAGGGGGACAGGGCGAGAGGGGACAGGGCGAGAGGGGGACAGGGCG GGAGGGGGACAGGGCGAGAGGGGGACAGGGCGAGAGGGGGACAGGGCGGG AGGGGGACACGGCGAGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAG GGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACACGGCGAGAGGG GGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGG ACAGGGCGGGAGGGGGACAGGGCGAGGGGACAGGGCGAGAGGGGGACAGG GCGAGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGGGGACAGGGCGAG AGGGGGACAGGGCGGGAGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGG GGAACAGGGCGGGA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0118 a0001c0001t0027g0118	1	129	0.0078	613	c.351 others(632): Show c.351+14325_351+14326insTCCCGCCCTGTTCCCCTCCCGCCCTG TCCCCCTCCCGCCCTGTCCCCTCCCGCCCTGTCCCCCTCTCGCCCTGTCC CCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCTCGCCCTGTCCCCCTC TCGCCCTGTCCCCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCC CTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCTCGCCGT GTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGT CCCCCTCCCGCCCTGTCCCCCTCTCGCCGTGTCCCCCTCCCGCCCTGTCC CCCTCTCGCCCTGTCCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCC CTCTCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCTTGCCCTGTCCCCTCC CGCCCTGTCCCCCTCCCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCTCGC CCTGTGCCCCTCCCGCCCTGTCCCCCTCTCGCCGTGTCCCCCTCCCGCCC TGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCTCGCCCTG TCCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(606): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCC ATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCGTCCATCCAC CCACCCACCACACCACACCTATCCATCCATCCACCCATCCACCCATCCAC CCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCC ATCCACCCATCCACCCATCCACCCACCCATCCATCCATCCATCCATCCGT CCGTCCATCCATCCACCCATCCACCCATCCACCCACCACCACACACCCAT CCATCCATCCATCCATCCATCCACCATCATCCATCATCCATCACCATCCA CTCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCTATC CATCCATCCACCCATCAACCCATCCACCCACCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATTCATCCATCCATCATCCATCCATCTA CCCATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCACCCACCCACCCACCCACCCCATCCATCCATCA CCCACCCACCCACC	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0119 a0001c0004t0001g0119	1	8	0.1250	613	c.937 others(630): Show c.937-1228_937-1227insCCATCCATCCATCCACTCATCCATCCAT CCATCCATCCACTCATCCATCCATCCATCCATCCGTCCATCCACCCACCC ACCACACCACACCTATCCATCCATCCACCCATCCACCCATCCACCCATCC ACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCCATCCAC CCATCCACCCATCCACCCACCCATCCATCCATCCATCCATCCGTCCGTCC ATCCATCCACCCATCCACCCATCCACCCACCACCACACACCCATCCATCC ATCCATCCATCCATCCACCATCATCCATCATCCATCACCATCCACTCATC CATCCATCCATCCGTCCATCCACCCACCCACACACACACCTATCCATCCA TCCACCCATCAACCCATCCACCCACCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATTCATCCATCCATCATCCATCCATCTACCCATC CACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCCACCCACCCACCCACCCACCCCATCCATCCATCACCCACC CACCCACCCATCCATCCATCCATCCATCCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43339771	T T	TTCTACCC others(606): Show TTCTACCCCCCCCCACAAGCACTGCTCCAACCCTCCCCCACTCTCCTCAT TCTATCCCCCCACAAGCATTGCTCCAACCCTCCCCCACTCTCCTCATTCT ACCCCCCACAAGCATAGCTCCAACCCTCCCCCCACTCTCCTCATTCTATC CCCCCACAAGCATTGCTTCAACCCTCCCCCACTCTCCTCATTCTATCCCC CCACAAGCATAGCTCCAACCCTCCCCTACTCTCCTCACTCTATCCCCCCA CAAGCATTGCTTCAACCCTCCCCCACTCTCCTCATTCTATCCCCCCACAA GCATCACTCCAGCCCTCCCCTACTCTCCTCACTCTATCCCCCCACAAGCA TCACTCCAGCCCTCCCCCATTCTCCTCACTCTATCCCCCCACAAGCATCA CTCCAGCCCTCCCCTACTCTCCTCACTATCCCCCCACAAGCATCACTCCA ACCCTCCCCCCACTCTCCTCATTCTATCCCCCCACAAGCATAGCTCCAAC CCTCCCCCCACTCTCCTCATTCTATCCCCCCACAAGCATTGCTTCAACCC TCCCCCACTCTCCTCATTCTATCCCCCCACAAGCATAGCTCCAACCCTCC CCTACTCTCCTCAC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0069 a0001c0006t0069	a0001c0006t0069g0023 a0001c0006t0069g0023	1	270	0.0037	613	c.89- others(626): Show c.89-537_89-536insGTGAGGAGAGTAGGGGAGGGTTGGAGCTATGC TTGTGGGGGGATAGAATGAGGAGAGTGGGGGAGGGTTGAAGCAATGCTTG TGGGGGGATAGAATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGTG GGGGGATAGAATGAGGAGAGTGGGGGGAGGGTTGGAGTGATGCTTGTGGG GGGATAGTGAGGAGAGTAGGGGAGGGCTGGAGTGATGCTTGTGGGGGGAT AGAGTGAGGAGAATGGGGGAGGGCTGGAGTGATGCTTGTGGGGGGATAGA GTGAGGAGAGTAGGGGAGGGCTGGAGTGATGCTTGTGGGGGGATAGAATG AGGAGAGTGGGGGAGGGTTGAAGCAATGCTTGTGGGGGGATAGAGTGAGG AGAGTAGGGGAGGGTTGGAGCTATGCTTGTGGGGGGATAGAATGAGGAGA GTGGGGGAGGGTTGAAGCAATGCTTGTGGGGGGATAGAATGAGGAGAGTG GGGGGAGGGTTGGAGCTATGCTTGTGGGGGGTAGAATGAGGAGAGTGGGG GAGGGTTGGAGCAATGCTTGTGGGGGGATAGAATGAGGAGAGTGGGGGAG GGTTGGAGCAGTGCTTGTGGGGGGGGGTAGA	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	1/21			chr22	TogoVar
SEL1L2_chr20_13844247_13995614	13934343	C C	CATATATA others(606): Show CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATATATTCCATATATATATAT ATTCCATATATATATATATTCCATATATATATATATTCCATATATATATA TATTCCATATATATATATATATTCCATATATATATATATTCCATATATAT ATATATATTCCATATATATATATATTCCATATATATATATATATTCCATA TATATATATTCCATATATATATATATTCCATATATATATATTCCATATAT ATATATATTCCATATATATATATTCCATATATATATATATTCCATATATA TATATTCCATATATATATATATTCCATATATATATATATTCCATATATAT ATATTCCATATATATATATATTCCATATATATATATATTCCATATATATA TATATTCCATATATATATATTCCATATATATATATTCCATATATATATAT TCCATATATATATATTCCATATATATATATTCCATATATATATATTCCAT ATATATATATATTCCATATATATATATTCCATATATATATATATTCCATA TATATATATATTCC	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	230	0.0043	613	c.115 others(630): Show c.115-2573_115-2572insGGAATATATATATATATGGAATATATAT ATATATGGAATATATATATATGGAATATATATATATATGGAATATATATA TATGGAATATATATATATGGAATATATATATATGGAATATATATATATGG AATATATATATATGGAATATATATATATGGAATATATATATATATGGAAT ATATATATATATGGAATATATATATATATGGAATATATATATATGGAATA TATATATATATGGAATATATATATATATGGAATATATATATATGGAATAT ATATATATATGGAATATATATATATGGAATATATATATATATGGAATATA TATATATGGAATATATATATATATGGAATATATATATATGGAATATATAT ATATATATGGAATATATATATATATGGAATATATATATATATATGGAATA TATATATATATGGAATATATATATATATATGGAATATATATATATATGGA ATATATATATATATGGAATATATATATATATGGAATATATATATATATGG AATATATATATATATATGGAATATATATATATATGGAATATATATATATA TGGAATATATATATATATGGAATATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13934343	C C	CATATATA others(606): Show CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATATTCCATATATATATATAT TCCATATATATATATATTCCATATATATATATATATTCCATATATATATA TATTCCATATATATATATATTCCATATATATATATATTCCATATATATAT ATATATTCCATATATATATATATTCCATATATATATATATATTCCATATA TATATATATTCCATATATATATATATATTCCATATATATATATTCCATAT ATATATATATTCCATATATATATATTCCATATATATATATATTCCATATA TATATATATTCCATATATATATATTCCATATATATATATATTCCATATAT ATATATATTCCATATATATATATATTCCATATATATATATTCCATATATA TATATTCCATATATATATATTCCATATATATATATTCCATATATATATAT TCCATATATATATATATTCCATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATTCCATATATATATATTCCA TATATATATATTCC	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	230	0.0043	613	c.115 others(630): Show c.115-2573_115-2572insGGAATATATATATATGGAATATATATAT ATGGAATATATATATATGGAATATATATATATATGGAATATATATATATA TGGAATATATATATATGGAATATATATATATATGGAATATATATATATGG AATATATATATATGGAATATATATATATGGAATATATATATATGGAATAT ATATATATGGAATATATATATATATGGAATATATATATATATGGAATATA TATATATATGGAATATATATATATGGAATATATATATATATGGAATATAT ATATATATGGAATATATATATATGGAATATATATATATATGGAATATATA TATATGGAATATATATATATATATGGAATATATATATATATGGAATATAT ATATATATATGGAATATATATATATATGGAATATATATATATATATGGAA TATATATATATATGGAATATATATATATATGGAATATATATATATATGGA ATATATATATATATATGGAATATATATATATATGGAATATATATATATAT GGAATATATATATATATGGAATATATATATATATGGAATATATATATATA TGGAATATATATATATATGGAATATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEPTIN9_chr17_77276499_77505593	77356670	C C	CCCCCTCC others(606): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTAC CTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCC CTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CCTCCCCTCCCCTCCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCTCCCCTC CCCCACCCCTTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCCTCCCCTCCCCACCCCTCCCCCCTCCCCCTCCCCTCCCC CCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCCATCCCCTCCCCTC CCCTCCCCCCCCTCCCCTCCCCCTCCCCCTCTCCTCCCCTCCCCCTCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCTT CCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCC CCCTCCCCTCCCCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA19043.hp1 HG02922.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0017 a0001c0001t0006 a0001c0001t0017	a0001c0001t0006g0114 a0001c0001t0017g0077 a0001c0001t0006g0114 a0001c0001t0017g0077	2	41	0.0488	613	c.77- others(630): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCC TCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCCTCCCCTCCCCTCCCCCCCACCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCT CCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCC TCCCCCCTCCCCTCCCCCTCCCCTCCCCACCCCTCCCCCCTCCCCCTCCC CTCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCCATCCCCT CCCCTCCCCTCCCCCCCCTCCCCTCCCCCTCCCCCTCTCCTCCCCTCCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCA CCCCTTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCC CCTCCCCCCTCCCCTCCCCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356670	C C	CCCCCTCC others(606): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTAC CTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCC CTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CCTCCCCTCCCCTCCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCTCCCCTC CCCCACCCCTTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCCTCCCCTCCCCACCCCTCCCCCCTCCCCCTCCCCTCCCC CCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCCATCCCCTCCCCTC CCCTCCCCCCCCTCCCCTCCCCCTCCCCCTCTCCTCCCCTCCCCCTCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCTT CCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCC CCCTCCCCTCCCCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA19043.hp2 HG02922.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0005 a0001c0001t0007	a0001c0001t0005g0104 a0001c0001t0007g0005 a0001c0001t0005g0104 a0001c0001t0007g0005	2	46	0.0435	613	c.22+ others(630): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCC TCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCCTCCCCTCCCCTCCCCCCCACCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCT CCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCC TCCCCCCTCCCCTCCCCCTCCCCTCCCCACCCCTCCCCCCTCCCCCTCCC CTCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCCATCCCCT CCCCTCCCCTCCCCCCCCTCCCCTCCCCCTCCCCCTCTCCTCCCCTCCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCA CCCCTTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCC CCTCCCCCCTCCCCTCCCCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SHROOM2_chrX_9781429_9954443	9792159	T T	TAGAATAG others(606): Show TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGA	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0014 a0002c0006t0002g0014	1	193	0.0052	613	c.165 others(630): Show c.165+5450_165+5451insGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAA	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
SLC37A3_chr7_140328752_140403530	140387809	A A	AAATATAA others(606): Show AAATATAAATATATTATATATATTATACATAAATATAAATATATTATATA TATTATACATAAATATAAATATATTATATATATTATACATAAATATAAAT ATATTATATATATTATATATAAATATAAATATATTATATATTATATAAAT ATAAATATATTATATATAATATATAATATAAATATATTATATATAATATA TATAATATATATATTATATATAATATATATAATATATATATTATATATAT TATATATATTATATATAATATAAATATATTATATATAATATATATAATAT AAATATATTATATATAATATATATAATATAAATATATTATATATATTATA TATAATATAAATATATTATATATATTATATATAATATAAATATATTATAT ATATTATATATAATATAAATATATTATATATATTATATATAATATAAATA TATTATATATATTATATATAATATAAATATATTATATATATTATATATAA TATAAATATATTATATATATTATATATAATATAAATATATTATATATATT ATATATAATATAAATATATTATATATATTATATATAATATAAATATATTA TATATATTATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0014 a0001c0001t0003g0014	1	132	0.0076	613	c.-70 others(630): Show c.-70-5214_-70-5213insATATATAATATATATAATATATTTATAT TATATATAATATATATAATATATTTATATTATATATAATATATATAATAT ATTTATATTATATATAATATATATAATATATTTATATTATATATAATATA TATAATATATTTATATTATATATAATATATATAATATATTTATATTATAT ATAATATATATAATATATTTATATTATATATAATATATATAATATATTTA TATTATATATAATATATATAATATATTTATATTATATATAATATATATAA TATATTTATATTATATATATTATATATAATATATTTATATTATATATATT ATATATAATATATTTATATTATATATAATATATATAATATATATAATATA TATATTATATATATTATATATAATATATATATTATATATATTATATATAA TATATTTATATTATATATTATATATAATATATTTATATTTATATAATATA TAATATATTTATATTTATATATAATATATATAATATATTTATATTTATGT ATAATATATATAATATATTTATATTTATGTATAATATATATAATATATTT ATATTTATGTATAATATATATAATATATTTATATT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SLC6A12_chr12_185081_219157	197206	C C	CATCCATC others(606): Show CATCCATCCATCTACCCATCCATCCATCCATCCATCCATCTATCCATCCA TCCATCCATCCATCCATCCATCCATCCATCCATCCATCTATCCATCCATC CATCCATCTATCCATCCATCTATCCATCCATCTATCCATCCATCCATCCA TCCATCCATCCATCCATCTAACCATCCATCCATCCATCCATCCATCCATC CATCTATCCATCCATCCATCCATCCATCTATCCATCCATCCATCCATCCA TCCATCCATCCATCTATCCATCCATCCATCCATCCATCTATCCATCCATC TCCATCCATCTATCCATCCATCCATCCATCCATCCATCCATCTATCCATC CATCTATCCATCCATCTATCCATCCATCCATCCATCTATCCATCCATCTA TCCATCCATCTATCCATCCATCCATCTACCCATCCATCCATCCATCCATC CATCCATCCATCCATCTACCCATCCATCCATCCATCCATCCATTCATCCA TCCATCATCCATCCATCCATCTATCCATCCATCCATCCATCCATCCATCC ATCCATCTATCCAGTGTTGGTCCATCTACCATCCATCATCCTCCCCCTCC TCTTTCTCATGGTA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0005 a0005	a0005c0023 a0005c0023	a0005c0023t0001 a0005c0023t0001	a0005c0023t0001g0258 a0005c0023t0001g0258	1	224	0.0045	613	c.107 others(630): Show c.1075+170_1075+171insTACCATGAGAAAGAGGAGGGGGAGGATG ATGGATGGTAGATGGACCAACACTGGATAGATGGATGGATGGATGGATGG ATGGATGGATGGATAGATGGATGGATGGATGATGGATGGATGAATGGATG GATGGATGGATGGATGGGTAGATGGATGGATGGATGGATGGATGGATGGA TGGATGGGTAGATGGATGGATGGATAGATGGATGGATAGATGGATGGATA GATGGATGGATGGATGGATAGATGGATGGATAGATGGATGGATAGATGGA TGGATGGATGGATGGATGGATGGATAGATGGATGGAGATGGATGGATAGA TGGATGGATGGATGGATGGATAGATGGATGGATGGATGGATGGATGGATG GATGGATAGATGGATGGATGGATGGATGGATAGATGGATGGATGGATGGA TGGATGGATGGATGGTTAGATGGATGGATGGATGGATGGATGGATGGATG GATAGATGGATGGATAGATGGATGGATAGATGGATGGATGGATGGATAGA TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGATG GATGGATGGATGGATGGATGGGTAGATGGATGGAT	SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding	10/15			chr12	TogoVar
SPACA5B_chrX_48125626_48137620	48134934	A A	AAGCACTT others(606): Show AAGCACTTTGGGAGGCCAAGGCGGGTGGATCACTTGAAGTCAGGAGTTCG AGACCAGCCTGGCCAACATGACAAAAACCCATCTCTACTAATAACTCACA CACACACACAAATAGCCATGCGTGGTAGCACACACCTGTAATCCCAGCTA CTCAGGAGGCTGAGGCATGAGAATCACTTTAACCCAAGAGGTGGAGGTTG CAGTGATCCAAGATTATGCCACTACACTCCAGCTTGGGCGACAGAGTGAA ATTGTGTCTCAAAAATACATAAATAAATAAAAATAAAATAGGGGAGAGAA GGTAAAAATAGGTTTAGGGAGCCATGAACAGGGGAAAGGGAGATTAGAAG GGTAGCAGATCCACGATTTGTGGGGAGAAGGACTCAAATAGAACGCAAAT AGCCTTTTAGGAAAGCTGGAAACAAATGAGGTGACCAAGAGAATAAGCAG AAGGACGAGGCCAGATTGTGGTGAGGCTAGCTCTTCACCATCTCACTCCA ACATTACTGTGAGAGAATAGCTCACAAAACTAACAATTTACAGTTAGCAA CAGAAGTTCATATCCTTTAAGAAGACATTTCTGGCCGGGCGCAGTGGCTC ACGCCTGTAATCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 NA18906.hp2 NA20300.hp2 HG02818.hp2 NA18906.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	3	272	0.0110	613	c.24 others(624): Show c.2405_*2406insAGCACTTTGGGAGGCCAAGGCGGGTGGATCACTT GAAGTCAGGAGTTCGAGACCAGCCTGGCCAACATGACAAAAACCCATCTC TACTAATAACTCACACACACACACAAATAGCCATGCGTGGTAGCACACAC CTGTAATCCCAGCTACTCAGGAGGCTGAGGCATGAGAATCACTTTAACCC AAGAGGTGGAGGTTGCAGTGATCCAAGATTATGCCACTACACTCCAGCTT GGGCGACAGAGTGAAATTGTGTCTCAAAAATACATAAATAAATAAAAATA AAATAGGGGAGAGAAGGTAAAAATAGGTTTAGGGAGCCATGAACAGGGGA AAGGGAGATTAGAAGGGTAGCAGATCCACGATTTGTGGGGAGAAGGACTC AAATAGAACGCAAATAGCCTTTTAGGAAAGCTGGAAACAAATGAGGTGAC CAAGAGAATAAGCAGAAGGACGAGGCCAGATTGTGGTGAGGCTAGCTCTT CACCATCTCACTCCAACATTACTGTGAGAGAATAGCTCACAAAACTAACA ATTTACAGTTAGCAACAGAAGTTCATATCCTTTAAGAAGACATTTCTGGC CGGGCGCAGTGGCTCACGCCTGTAATCCC	SPACA5B	ENSG00000171478.8	transcript	ENST00000304270.6	protein_coding		2315		chrX	TogoVar
SPACA5B_chrX_48125626_48137620	48134934	A A	AAGCACTT others(606): Show AAGCACTTTGGGAGGCCAAGGCGGGTGGATCACTTGAAGTCAGGAGTTCG AGACCAGCCTGGCCAACATGACAAAAACCCATCTCTACTAATAACTCACA CACACACACAAATAGCCATGCGTGGTGGCACACACCTGTAATCCCAGCTA CTCAGGAGGCTGAGGCATGAGAATCACTTTAACCCAAGAGGCGGAGGTTG CAGTGATCCAAGATTATGCCACTACACTCCAGCTTGGGCGACAGAGTGAA ATTGTGTCTCAAAAATACATAAATAAATAAAAATAAAATAGGGGAGAGAA GGTAAAAATAGGTTTAGGGAGCCATGAACAGGGGAAAGGGAGATTAGAAG GGTAGCAGATCCACGATTTGTGGGGAGAAGGACTCAAATAGAACGCAAAT AGCCTTTTAGGAAAGCTGGAAACAAATGAGGTGACCAAGAGAATAAGCAG AAGGACGAGGCCAGATTGTGGTGAGGCTAGCTCTTCACCATCTCACTCCA ACATTACTGTGAGAGAATAGCTCACAAAACTAACAATTTACAGTTAGCAA CAGAAGTTCATATCCTTTAAGAAGACATTTCTGGCCGGGCGCAGTGGCTC ACGCCTGTAATCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00609.hp1 HG00738.hp1 others(37): Show HG00438.hp2 HG00609.hp1 HG00738.hp1 HG01069.hp1 HG01070.hp1 HG01167.hp1 HG01169.hp1 HG01255.hp1 HG01361.hp2 HG01891.hp1 HG01891.hp2 HG02055.hp1 HG02074.hp1 HG02080.hp1 HG02155.hp2 HG02280.hp2 HG02451.hp1 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02723.hp2 HG02809.hp1 HG02896.hp2 HG02922.hp1 HG03195.hp1 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 NA18906.hp1 NA18963.hp2 NA18964.hp2 NA18969.hp1 NA18971.hp1 NA19075.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0013	40	309	0.1295	613	c.24 others(624): Show c.2405_*2406insAGCACTTTGGGAGGCCAAGGCGGGTGGATCACTT GAAGTCAGGAGTTCGAGACCAGCCTGGCCAACATGACAAAAACCCATCTC TACTAATAACTCACACACACACACAAATAGCCATGCGTGGTGGCACACAC CTGTAATCCCAGCTACTCAGGAGGCTGAGGCATGAGAATCACTTTAACCC AAGAGGCGGAGGTTGCAGTGATCCAAGATTATGCCACTACACTCCAGCTT GGGCGACAGAGTGAAATTGTGTCTCAAAAATACATAAATAAATAAAAATA AAATAGGGGAGAGAAGGTAAAAATAGGTTTAGGGAGCCATGAACAGGGGA AAGGGAGATTAGAAGGGTAGCAGATCCACGATTTGTGGGGAGAAGGACTC AAATAGAACGCAAATAGCCTTTTAGGAAAGCTGGAAACAAATGAGGTGAC CAAGAGAATAAGCAGAAGGACGAGGCCAGATTGTGGTGAGGCTAGCTCTT CACCATCTCACTCCAACATTACTGTGAGAGAATAGCTCACAAAACTAACA ATTTACAGTTAGCAACAGAAGTTCATATCCTTTAAGAAGACATTTCTGGC CGGGCGCAGTGGCTCACGCCTGTAATCCC	SPACA5B	ENSG00000171478.8	transcript	ENST00000304270.6	protein_coding		2315		chrX	TogoVar
THEG_chr19_356747_381026	376928	T T	TGTGCCCC others(606): Show TGTGCCCCCACCCAGCCTCTCCCCCCCCGTGCCTCCACCCAGCCTCTCCC CCTGTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTC CCCCTCTGTACCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCT CTCCCCCCCCGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAG CCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCTGTGCCCCCACC CAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCC ACCCAGCCTCTCCCCCTCTGTGCCCCCCACCCAGCCTCTCCCCCCTCTGT GCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTC TGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCC CCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCT CCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCC TCTCCCCCTCTGTACCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCA GCCTCTCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0077 a0002c0002t0002g0077	1	348	0.0029	613	c.-95 others(622): Show c.-959_-958insGGGGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGA GAGGCTGGGTGGGGTACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGG GAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGA GGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCAC AGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGG GCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGGAGAGGCTGGGT GGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCT GGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGGGGGGGAGA GGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGG AGAGGCTGGGTGGGGCACGGGGGGGGAGAGGCTGGGTGGGGGCACAGAGG GGGAGAGGCTGGGTGGGGTACAGAGGGGGAGAGGCTGGGTGGGGCACAGA GGGGGAGAGGCTGGGTGGGGCACACAGGGGGAGAGGCTGGGTGGAGGCAC GGGGGGGGAGAGGCTGGGTGGGGGCAC	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		903		chr19	TogoVar
TMPRSS9_chr19_2355265_2431261	2418961	T T	TCCCTCCA others(606): Show TCCCTCCACTTCCTTCCCTCCCTCTTTCCTTCCCTGCCTTCCCTCCCTAC CTCCCCTTCCCTCCCTACCTCCCCTTCCCTCCCTACCTCCCCTTCCCTCC CTACCTCCCCTTCCCTCCCTACCTCTCCTTTCCTTCCCTCCCTACCTCTC CTTTCCTTCCCTCCCTACCTCTCCTTTCCTTCCCTCCCTACGTCTCCTTT CCTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCCTCCCTCTCCTTCCCTT CCCTCCCTCCCTCTCCTTCCCTTCCCTCCCCACCCTCCCTCTCCTTCCCT TCCCTCCCTCCCTCTCCTTCCCTTCCCTCCCCACCCTCCCTCTCCTTCCC TTCCTCCCTCTCCTTCCCTTCCCTCCCCACCCTCCCTCTCCTTCCCTTCC CTCCCCACCCTCCCTCTCCTTCCCTCCCCACCCTCCCTCTCCTTCCCTTC CCTCCCTCCCTCTCCTTCCCTTCCCTCCCCACCCTTCCCACCCTCCCTCC CTCTCCTTCCCTTTCCTCCCTCTCTCTCCTTCCCTTCCCTCCCTCCCTTT CCTTCCCCCATCCCTTTCCTTCCCTCCCTCCCTCTCCTTCCCTCCCTCCC TCTCCTTCCTTCCC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0017 a0017	a0017c0032 a0017c0032	a0017c0032t0002 a0017c0032t0002	a0017c0032t0002g0062 a0017c0032t0002g0062	1	93	0.0108	613	c.215 others(630): Show c.2154+823_2154+824insCCCTCCACTTCCTTCCCTCCCTCTTTCC TTCCCTGCCTTCCCTCCCTACCTCCCCTTCCCTCCCTACCTCCCCTTCCC TCCCTACCTCCCCTTCCCTCCCTACCTCCCCTTCCCTCCCTACCTCTCCT TTCCTTCCCTCCCTACCTCTCCTTTCCTTCCCTCCCTACCTCTCCTTTCC TTCCCTCCCTACGTCTCCTTTCCTTCCCTCCCTCCCTCTCCTTCCCTTCC CTCCCTCCCTCTCCTTCCCTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCC CCACCCTCCCTCTCCTTCCCTTCCCTCCCTCCCTCTCCTTCCCTTCCCTC CCCACCCTCCCTCTCCTTCCCTTCCTCCCTCTCCTTCCCTTCCCTCCCCA CCCTCCCTCTCCTTCCCTTCCCTCCCCACCCTCCCTCTCCTTCCCTCCCC ACCCTCCCTCTCCTTCCCTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCC CACCCTTCCCACCCTCCCTCCCTCTCCTTCCCTTTCCTCCCTCTCTCTCC TTCCCTTCCCTCCCTCCCTTTCCTTCCCCCATCCCTTTCCTTCCCTCCCT CCCTCTCCTTCCCTCCCTCCCTCTCCTTCCTTCCC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	14/18			chr19	TogoVar
TNS3_chr7_47270154_47587111	47363030	T T	TCACCATC others(606): Show TCACCATCATCATCATCATCACCATTACCACTATCAAGATCATTACCACC ATCAACATCATCACCATCATCACAGTCATCACCATCATCAGGGTCATCAC CATCACCATCATCATCACCATTACCACTATCAAGATCATTACCACCATCA ACATCATCACCATCATCACAGTCATCACCATCATCAGGGTCATCACCACC ATCACCATGACCATCATCACCATCAACATCATCACCACCTTCAACATCAT CACCATCATCATCGTCACCATCACCATCACCAAACAATCATGACCATCAT TATCATCACCATCATCACCATCATCTCTGTCATCGTCACCATCACCATCA TCACCATCACCACTGTCATCACACCATCACCACCATCAACATCATCACAG TCATTATCACCATCATCAGGGTCATCACCATCAACATCAGCACCACCATC ACCATCATCACCATCATCCCAGTCATCACCATCATCGCTGTCATCATCAC CATCACCATCATCACTATCACCACCATCAACATCATCACCACCATCACCG TCATCATCCACCATCACCACTACCAATATCACAGTCATCATCATCATCAT CATCATCATATCAC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0008 a0001c0015t0008	a0001c0015t0008g0022 a0001c0015t0008g0022	1	5	0.2000	613	c.228 others(632): Show c.2281+5334_2281+5335insGTGATATGATGATGATGATGATGATG ATGACTGTGATATTGGTAGTGGTGATGGTGGATGATGACGGTGATGGTGG TGATGATGTTGATGGTGGTGATAGTGATGATGGTGATGGTGATGATGACA GCGATGATGGTGATGACTGGGATGATGGTGATGATGGTGATGGTGGTGCT GATGTTGATGGTGATGACCCTGATGATGGTGATAATGACTGTGATGATGT TGATGGTGGTGATGGTGTGATGACAGTGGTGATGGTGATGATGGTGATGG TGACGATGACAGAGATGATGGTGATGATGGTGATGATAATGATGGTCATG ATTGTTTGGTGATGGTGATGGTGACGATGATGATGGTGATGATGTTGAAG GTGGTGATGATGTTGATGGTGATGATGGTCATGGTGATGGTGGTGATGAC CCTGATGATGGTGATGACTGTGATGATGGTGATGATGTTGATGGTGGTAA TGATCTTGATAGTGGTAATGGTGATGATGATGGTGATGGTGATGACCCTG ATGATGGTGATGACTGTGATGATGGTGATGATGTTGATGGTGGTAATGAT CTTGATAGTGGTAATGGTGATGATGATGATGATGGTG	TNS3	ENSG00000136205.18	transcript	ENST00000311160.14	protein_coding	17/30			chr7	TogoVar
TOX_chr8_58800412_59124147	59092319	A A	ATTATATA others(606): Show ATTATATATATTATATATTATATATACATTATATATATTATATATTATAT ATACATTATATATATTATATATTATATATACATTATATATATTATATATT ATATATACATTATATATATTATATATTATGTATACATTATATATATTATA TATTATGTATACATTATATATATTATATATTATGTATACATTATATATAT TATATATTATGTATACATTATATATATTATATATTATGTATACATTATAT ATATTATATATTATGTATACATTATATATTATATATTATGTATACATTAT ATATATTATATATTATGTATACATTATATATATTATATATTATGTATACA TTATATATATTATATATTATGTATACATTATATATATTATATATTATGTA TACATTATATATATTATATATTATGTATACATTATATATATTATGTATAC ATTATATATATTATATATTATGTATACATTATATATATTATATATTATGT ATACATTATATATATTATATATTATGTATACATTATATATATTATATATT ATGTATACATTATATATATTATATATTATGTATACATTATATATATTATA TATTATGTATACAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0001 a0001c0007t0001g0001	1	130	0.0077	613	c.102 others(632): Show c.102+26566_102+26567insATGTATACATAATATATAATATATAT AATGTATACATAATATATAATATATATAATGTATACATAATATATAATAT ATATAATGTATACATAATATATAATATATATAATGTATACATAATATATA ATATATATAATGTATACATAATATATAATATATATAATGTATACATAATA TATATAATGTATACATAATATATAATATATATAATGTATACATAATATAT AATATATATAATGTATACATAATATATAATATATATAATGTATACATAAT ATATAATATATATAATGTATACATAATATATAATATATATAATGTATACA TAATATATAATATATAATGTATACATAATATATAATATATATAATGTATA CATAATATATAATATATATAATGTATACATAATATATAATATATATAATG TATACATAATATATAATATATATAATGTATACATAATATATAATATATAT AATGTATACATAATATATAATATATATAATGTATATATAATATATAATAT ATATAATGTATATATAATATATAATATATATAATGTATATATAATATATA ATATATATAATGTATATATAATATATAATATATATAA	TOX	ENSG00000198846.6	transcript	ENST00000361421.2	protein_coding	1/8			chr8	TogoVar
TXNRD2_chr22_19870522_19946818	19919235	A A	ACCCAGGC others(606): Show ACCCAGGCTGGAGTGCAATGGCACGATCCTGGTTCACCCCAACCTCCGCC TCCCGGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCGAGTACCTGGGATT ATAGGCATGCGCCACCATGCCCGGCTAATTTTGTATTTTGAGTAGAGATG GGATTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCAACCTCAGGTGA TCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACACGTGTGAGCCACC GTGCCCGGCCTATTTTTATTTTTAATTTAAAAAAAATTTTTAGGCTGAGT GTGGTGGCTCACACCTGTAATCCCAGCACTTTGAGAGGCCGAGGCGGGCA GATAACCTGAGGTCAGGAGTTCAAAAACAGTCTGGCCAACATGGTGAAAC CCTGTCTCTACTAAAAATACAAAAATTAGCTCGGTGTGGTGGCACACGCC TGTAGTCCCAGCTACTCAGGAGGCTGAGGCACAAGAATCACTTGAACCCG GGTGGCAGAGGTTGGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCT GGCTGACAGAGCGAGACTCTCTCAATTAAAAAAAAAACTTTAGAGATAAG TTCTCACTCTGTTG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp1 HG00733.hp2 others(19): Show HG00280.hp1 HG00639.hp1 HG00733.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01168.hp1 HG01243.hp2 HG01257.hp1 HG01361.hp1 HG02027.hp2 HG02486.hp1 HG03239.hp2 HG03688.hp2 HG04115.hp2 HG04228.hp2 NA18950.hp1 NA19065.hp2 NA19080.hp1 NA20805.hp1	a0004 a0005 a0006 others(1): Show a0004 a0005 a0006 a0011	a0004c0007 a0004c0012 a0005c0021 others(2): Show a0004c0007 a0004c0012 a0005c0021 a0006c0013 a0011c0022	a0004c0007t0003 a0004c0012t0001 a0005c0021t0001 others(2): Show a0004c0007t0003 a0004c0012t0001 a0005c0021t0001 a0006c0013t0001 a0011c0022t0003	a0004c0007t0003g0017 a0004c0007t0003g0019 a0004c0007t0003g0021 others(18): Show a0004c0007t0003g0017 a0004c0007t0003g0019 a0004c0007t0003g0021 a0004c0007t0003g0027 a0004c0007t0003g0030 a0004c0007t0003g0031 a0004c0007t0003g0033 a0004c0007t0003g0149 a0004c0007t0003g0157 a0004c0012t0001g0020 a0004c0012t0001g0115 a0004c0012t0001g0151 a0004c0012t0001g0337 a0005c0021t0001g0016 a0005c0021t0001g0324 a0006c0013t0001g0005 a0006c0013t0001g0108 a0006c0013t0001g0304 a0006c0013t0001g0305 a0011c0022t0003g0022 a0011c0022t0003g0023	22	288	0.0764	613	c.230 others(628): Show c.230-232_230-231insCAACAGAGTGAGAACTTATCTCTAAAGTTT TTTTTTTAATTGAGAGAGTCTCGCTCTGTCAGCCAGGCTGGAGTGCAGTG GTGCAATCTTGGCTCACTGCCAACCTCTGCCACCCGGGTTCAAGTGATTC TTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCACA CCGAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGC CAGACTGTTTTTGAACTCCTGACCTCAGGTTATCTGCCCGCCTCGGCCTC TCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACTCAGCCTAAAAATT TTTTTTAAATTAAAAATAAAAATAGGCCGGGCACGGTGGCTCACACGTGT AATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACCTGAGGTTGGGA GTTCAAGACCAGCCTGACCAACATGGAGAAATCCCATCTCTACTCAAAAT ACAAAATTAGCCGGGCATGGTGGCGCATGCCTATAATCCCAGGTACTCGG GAGGCTGAGGCAGGAGAATAGCTTGAACCCGGGAGGCGGAGGTTGGGGTG AACCAGGATCGTGCCATTGCACTCCAGCCTGGG	TXNRD2	ENSG00000184470.21	transcript	ENST00000400521.7	protein_coding	3/17			chr22	TogoVar
TXNRD2_chr22_19870522_19946818	19919235	A A	ACCCAGGC others(606): Show ACCCAGGCTGGAGTGCAATGGCGCGATCCTGGTTCACCCCAACCTCCGCC TCCCGGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCGAGTACCTGGGATT ATAGGCATGCGCCACCATGCCCGGCTAATTTTGTATTTTGAGTAGAGATG GGATTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCAACCTCAGGTGA TCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACACGTGTGAGCCACC GTGCCCGGCCTATTTTTATTTTTAATTTAAAAAAAATTTTTAGGCTGAGT GTGGTGGCTCACACCTGTAATCCCAGCACTTTGAGAGGCCGAGGCGGGCA GATAACCTGAGGTCAGGAGTTCAAAAACAGTCTGGCCAACATGGTGAAAC CCTGTCTCTACTAAAAATACAAAAATTAGCTCGGTGTGGTGGCACACGCC TGTAGTCCCAGCTACTCAGGAGGCTGAGGCACAAGAATCACTTGAACCCG GGTGGCAGAGGTTGGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCT GGCTGACAGAGCGAGACTCTCTCAATTAAAAAAAAAACTTTAGAGATAAG TTCTCACTCTGTTG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01891.hp1 HG02258.hp1 others(8): Show HG01255.hp2 HG01891.hp1 HG02258.hp1 HG02572.hp1 HG02630.hp2 HG02895.hp2 HG03195.hp1 HG03209.hp2 HG03471.hp2 HG03516.hp2 NA20129.hp2	a0003 a0004 a0008 others(1): Show a0003 a0004 a0008 a0009	a0003c0037 a0004c0007 a0004c0035 others(3): Show a0003c0037 a0004c0007 a0004c0035 a0008c0016 a0008c0034 a0009c0020	a0003c0037t0001 a0004c0007t0002 a0004c0035t0002 others(3): Show a0003c0037t0001 a0004c0007t0002 a0004c0035t0002 a0008c0016t0002 a0008c0034t0002 a0009c0020t0003	a0003c0037t0001g0039 a0004c0007t0002g0345 a0004c0007t0002g0346 others(8): Show a0003c0037t0001g0039 a0004c0007t0002g0345 a0004c0007t0002g0346 a0004c0007t0002g0354 a0004c0035t0002g0273 a0008c0016t0002g0100 a0008c0016t0002g0101 a0008c0016t0002g0145 a0008c0034t0002g0065 a0009c0020t0003g0094 a0009c0020t0003g0254	11	277	0.0397	613	c.230 others(628): Show c.230-232_230-231insCAACAGAGTGAGAACTTATCTCTAAAGTTT TTTTTTTAATTGAGAGAGTCTCGCTCTGTCAGCCAGGCTGGAGTGCAGTG GTGCAATCTTGGCTCACTGCCAACCTCTGCCACCCGGGTTCAAGTGATTC TTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCACA CCGAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGC CAGACTGTTTTTGAACTCCTGACCTCAGGTTATCTGCCCGCCTCGGCCTC TCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACTCAGCCTAAAAATT TTTTTTAAATTAAAAATAAAAATAGGCCGGGCACGGTGGCTCACACGTGT AATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACCTGAGGTTGGGA GTTCAAGACCAGCCTGACCAACATGGAGAAATCCCATCTCTACTCAAAAT ACAAAATTAGCCGGGCATGGTGGCGCATGCCTATAATCCCAGGTACTCGG GAGGCTGAGGCAGGAGAATAGCTTGAACCCGGGAGGCGGAGGTTGGGGTG AACCAGGATCGCGCCATTGCACTCCAGCCTGGG	TXNRD2	ENSG00000184470.21	transcript	ENST00000400521.7	protein_coding	3/17			chr22	TogoVar
TXNRD2_chr22_19870522_19946818	19919235	A A	ACCCAGGC others(606): Show ACCCAGGCTGGAGTGCAATGGCGCGATCCTGGTTCACCCCAACCTCTGCC TCCCGGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCGAGTACCTGGGATT ATAGGCATGCGCCACCATGCCCGGCTAATTTTGTATTTTGAGTAGAGATG GGATTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCAACCTCAGGTGA TCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACACGTGTGAGCCACC GTGCCCGGCCTATTTTTATTTTTAATTTAAAAAAAATTTTTAGGCTGAGT GTGGTGGCTCACACCTGTAATCCCAGCACTTTGAGAGGCCGAGGCGGGCA GATAACCTGAGGTCAGGAGTTCAAAAACAGTCTGGCCAACATGGTGAAAC CCTGTCTCTACTAAAAATACAAAAATTAGCTCGGTGTGGTGGCACACGCC TGTAGTCCCAGCTACTCAGGAGGCTGAGGCACAAGAATCACTTGAACCCG GGTGGCAGAGGTTGGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCT GGCTGACAGAGCGAGACTCTCTCAATTAAAAAAAAAACTTTAGAGATAAG TTCTCACTCTGTTG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02280.hp1 HG02451.hp1 others(6): Show HG01243.hp1 HG02280.hp1 HG02451.hp1 HG02622.hp1 HG02922.hp2 NA18906.hp1 NA19240.hp1 NA20300.hp1 NA21309.hp1	a0003 a0004 a0003 a0004	a0003c0011 a0004c0007 a0003c0011 a0004c0007	a0003c0011t0002 a0004c0007t0002 a0003c0011t0002 a0004c0007t0002	a0003c0011t0002g0003 a0003c0011t0002g0204 a0003c0011t0002g0344 others(4): Show a0003c0011t0002g0003 a0003c0011t0002g0204 a0003c0011t0002g0344 a0003c0011t0002g0347 a0003c0011t0002g0357 a0004c0007t0002g0205 a0004c0007t0002g0206	9	275	0.0327	613	c.230 others(628): Show c.230-232_230-231insCAACAGAGTGAGAACTTATCTCTAAAGTTT TTTTTTTAATTGAGAGAGTCTCGCTCTGTCAGCCAGGCTGGAGTGCAGTG GTGCAATCTTGGCTCACTGCCAACCTCTGCCACCCGGGTTCAAGTGATTC TTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCACA CCGAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGC CAGACTGTTTTTGAACTCCTGACCTCAGGTTATCTGCCCGCCTCGGCCTC TCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACTCAGCCTAAAAATT TTTTTTAAATTAAAAATAAAAATAGGCCGGGCACGGTGGCTCACACGTGT AATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACCTGAGGTTGGGA GTTCAAGACCAGCCTGACCAACATGGAGAAATCCCATCTCTACTCAAAAT ACAAAATTAGCCGGGCATGGTGGCGCATGCCTATAATCCCAGGTACTCGG GAGGCTGAGGCAGGAGAATAGCTTGAACCCGGGAGGCAGAGGTTGGGGTG AACCAGGATCGCGCCATTGCACTCCAGCCTGGG	TXNRD2	ENSG00000184470.21	transcript	ENST00000400521.7	protein_coding	3/17			chr22	TogoVar
VCX_chrX_7838171_7849143	7844254	A A	AGGGAGGA others(606): Show AGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTG TGGGGAGGGAGGGAGGGAGGGAGGAAGCGGTGGTGTGTGGGGAGGGAGGG AGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGT GTGAGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGA GGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGG AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGG TGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGA GGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGT GGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAG GGGGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGT GAGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGG GAGGAAGAGGTGGTGTGAGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTG TGGGGAGGGAGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	257	0.0039	613	c.23 others(622): Show c.238_*239insGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGG AGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGCGGTGGTGTG TGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGG AGGAAGAGGTGGTGTGAGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGT GGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGG TGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGG AGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGT GTGTGGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGA GGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTG TGTGGGGAGGGAGGGGGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAG GAAGAGGTGGTGTGAGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGG GGAGGGAGGGAGGGAGGAAGAGGTGGTGTGAGGGGAGGGAGGGAGGGAGG AAGAGGTGGTGTGTGGGGAGGGAGGGG	VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding		112		chrX	TogoVar
ZNF583_chr19_56399332_56432364	56409539	T T	TTGCCCAG others(606): Show TTGCCCAGGCTGGTTTTTTTTTTTTTTTTTTTTTTTTTTAGGAACAAAAT TTATTCCAATTTAAAACAGAGTTCATTTCAGGAGAAAGATATGAAAAGTC GACTTCCATCGGTGTCTGGATTAAGGGTCAGGGCCGGTGGCTGTGGGAGG TGACACTGAGCCGCTCCTCAGCCCCTCCTCCCATCCCCAACGCGCACAAC ACATGCATTTCAAATGGTAAAAGGCTTAAAAACAGCTTGTATAGAATATT CTTTTTTAAATAGATTAAGGTTGAAATTGTCTGAAATCAGGACTGTGTAA TATACAAGTATCACTGGGTCCCGTCCGCCAGGCCGGCCACAGGATCTGCT GCCACCACTGGGGGACATTGGCACGGGGATGCCTCCCTGGGGGAGCCGGG GGACCCAGGGCATGGGTTTGCAGTGGCCGGGGGCTGCTGCCGCCCGGGCG TAACATGGTCGGAGAAGGTGGTCGGCACTCACGAGAAATCGTTGGCAGGT GAGATTCACCAAGGTAAAAACACACACCCCACATGCCCACGTGGCCCCAC ACGTGGCAAGGGTGGGGGTTGGCTGTCCTTGCCCCTGGGTGCCACTGGCA CGAGAACCACTGCC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0121 a0001c0001t0003g0121	1	329	0.0030	613	c.9+2 others(626): Show c.9+2432_9+2433insTTTTTTTTTTTTTTTTTTTTTTAGGAACAAAA TTTATTCCAATTTAAAACAGAGTTCATTTCAGGAGAAAGATATGAAAAGT CGACTTCCATCGGTGTCTGGATTAAGGGTCAGGGCCGGTGGCTGTGGGAG GTGACACTGAGCCGCTCCTCAGCCCCTCCTCCCATCCCCAACGCGCACAA CACATGCATTTCAAATGGTAAAAGGCTTAAAAACAGCTTGTATAGAATAT TCTTTTTTAAATAGATTAAGGTTGAAATTGTCTGAAATCAGGACTGTGTA ATATACAAGTATCACTGGGTCCCGTCCGCCAGGCCGGCCACAGGATCTGC TGCCACCACTGGGGGACATTGGCACGGGGATGCCTCCCTGGGGGAGCCGG GGGACCCAGGGCATGGGTTTGCAGTGGCCGGGGGCTGCTGCCGCCCGGGC GTAACATGGTCGGAGAAGGTGGTCGGCACTCACGAGAAATCGTTGGCAGG TGAGATTCACCAAGGTAAAAACACACACCCCACATGCCCACGTGGCCCCA CACGTGGCAAGGGTGGGGGTTGGCTGTCCTTGCCCCTGGGTGCCACTGGC ACGAGAACCACTGCCTGCCCAGGCTGGTTTT	ZNF583	ENSG00000198440.9	transcript	ENST00000333201.13	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr19	TogoVar

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