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
PNMA5_chrX_152983824_152999116	152998738	T T	TTTATATA others(433): Show TTTATATATAATATATAATATATATTTATATAAAAATATATAATATATAT TTATATAAAAATATATTATATATAATATAATTATTATATATAAAAATATA TTTATATATATTATATTATATATAATATATTATATATAATATATTATATA TAATATATTATATATATTATATTATATATAATATATTATATATAATATAT TATATATAATATATTATATATATTATATATAATATATTATATATAATATA TTATATATAATATATTATATATATTATATTATATATAATATATTATATAT ATTATATATAATATATTATATATAATATATTATATATAATATATTATATA TATTATATTATATATAATATATTATATATATTATATTATATATAATATAT TATATATATTATATTATATATAATATATTATATATATTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	286	0.0035	440	c.-50 others(451): Show c.-5036_-5035insTATAATATATATAATATATTATATATAATATAAT ATATATAATATATTATATATAATATAATATATATAATATATTATATATAA TATAATATATATAATATATTATATATAATATATTATATATAATATATTAT ATATAATATATATAATATATTATATATAATATAATATATATAATATATTA TATATAATATATTATATATAATATATTATATATAATATATATAATATATT ATATATAATATATTATATATAATATATTATATATAATATAATATATATAA TATATTATATATAATATATTATATATAATATATTATATATAATATAATAT ATATAAATATATTTTTATATATAATAATTATATTATATATAATATATTTT TATATAAATATATATTATATATTTTTATATAAATATATATTATATATTAT ATATAA	PNMA5	ENSG00000198883.12	transcript	ENST00000535214.6	protein_coding		4623		chrX	TogoVar
PTDSS2_chr11_445279_496399	459074	A A	AGGACCTG others(433): Show AGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGG TTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGA GGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTC CGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGT CGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGG TTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGA GGATACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTC CGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGT CGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0062 a0001c0001t0002g0062	1	346	0.0029	440	c.183 others(457): Show c.183-1092_183-1091insACACACTCCGGTGGATGTCGGACCTGGG TTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGA GGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTC CGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGT CGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGG TTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGA GGATACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTC CGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGT CGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGG TTAGACGTGAGG	PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
PTDSS2_chr11_445279_496399	459257	C C	CACACTCC others(433): Show CACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGG TGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGG ACCTGGGTTAGACGTGAGGATACACTCCGGTGGATGTCGGACCTGGGTTA GACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGA CACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGG TGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGG ACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTA GACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGA CACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGAT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0065 a0001c0001t0002g0065	1	346	0.0029	440	c.183 others(455): Show c.183-834_183-833insCGGACCTGGGTTAGACGTGAGGATACACTC CGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGT CGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGG TTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGA GGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTC CGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGT CGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGG TTAGACGTGAGGATACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGA GGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTC CGGTGGATGT	PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
RAB11FIP3_chr16_420649_528011	467568	A A	ACGTCAGG others(433): Show ACGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCGGGGGCGTCA GGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGG AGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGC TGGGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGC CTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCTGGGACGTCAGG GAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAG GTGCAGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCAG GGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCTGGGGCCT CAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCTGGGG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03041.hp2 HG02976.hp1 HG03041.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0011 a0004c0007t0022 a0001c0001t0011 a0004c0007t0022	a0001c0001t0011g0084 a0004c0007t0022g0186 a0001c0001t0011g0084 a0004c0007t0022g0186	2	295	0.0068	440	c.809 others(457): Show c.809-3710_809-3709insAGGGGCGTCAGGGAGGAGGTGCGGGGGC GTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCTGGGGCCTCAGG GAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAG GTGCTGGGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAG GGGCCTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCTGGGACGT CAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGA GGAGGTGCAGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGT GCAGGGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCTGGG GCCTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCTGGGGCGTCA GGGAGGAGGTGC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RASA3_chr13_113972783_114137623	114080898	T T	TAGTGCCC others(433): Show TAGTGCCCCTCGGCAGAGGGCCGTCCACCTAGAACACCAATAGTGCCCCT CGGCAGAGGGCCGTCCACCTAGAACACCAAGAGTGCCCCTCGGCAGAGGG CCGTCCACCTAGAACACCAAGAGTGCCCCTCGGCAGAGGGCCGTCCACCT AGAACACCAATAGTGCCCCTCGGCAGAGGGCCGTCCACCTAGAACACCAA GAGTGCCCCTCGGCAGAGGGCCGTCCACCTAGAACACCAAGAGTGCCCCA CGGCAGAGGGCCGTCCACCTAGAACACCAAGAGTGTCCCACGGCAGAGGG CCGTCCACCTAGAACACCAATAGTGCCGTGTGGCAGAGGGCCGTCCACCC AAAACACCAATAGTGCCCCTCGGCAGAGGGCCGTCCACCTAGAACACCAA TAGTGCCCCTCGGCAGAGGGCCGTCCACCTAGAACACCAAG	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0011 a0001c0001t0006g0011	1	67	0.0149	440	c.56- others(455): Show c.56-7062_56-7061insCTTGGTGTTCTAGGTGGACGGCCCTCTGCC GAGGGGCACTATTGGTGTTCTAGGTGGACGGCCCTCTGCCGAGGGGCACT ATTGGTGTTTTGGGTGGACGGCCCTCTGCCACACGGCACTATTGGTGTTC TAGGTGGACGGCCCTCTGCCGTGGGACACTCTTGGTGTTCTAGGTGGACG GCCCTCTGCCGTGGGGCACTCTTGGTGTTCTAGGTGGACGGCCCTCTGCC GAGGGGCACTCTTGGTGTTCTAGGTGGACGGCCCTCTGCCGAGGGGCACT ATTGGTGTTCTAGGTGGACGGCCCTCTGCCGAGGGGCACTCTTGGTGTTC TAGGTGGACGGCCCTCTGCCGAGGGGCACTCTTGGTGTTCTAGGTGGACG GCCCTCTGCCGAGGGGCACTATTGGTGTTCTAGGTGGACGGCCCTCTGCC GAGGGGCACT	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RBFOX3_chr17_79084345_79616051	79495577	A A	ATGCGGGA others(433): Show ATGCGGGAAGGTGGGAAGGTGGGGGAGGGGTGCAGAGGGTGGGGAGGTGG GGGAAAGGGTACTGGGGCAGGGATGGGGATGCGGGAAGGTGGGGGAGGGG TGCAGAGGGTGGGGAGGTGGGGCAGGGGTACTGGGGCAGGGATGGGGATG CGGGAAGGTGGGAAGGTGGGGGAGGGGTGCAGAGGGTGGGGAGGTGGGGG AAAGGGTACTGGGGCAGGGATGGGGATGCGGGAAGGTGGGGGAGGGGTGC AGAGGGTGGGGAGGTGGGGCAGGGGTACTGGGGCAGGGATGGGGATGCGG GAAGGTGGGAAGGTGGGGGAGGGGTGCAGAGGGTGGGGAGGTGGGGCAGG GGTACTGGGGCAGGGATGGGGGTGCGGGAAGGTGGGGGAGGGGTGCAGAG GGTGGGGAGGTGGGGCAGGGGTACTGGGGCAGGGATGGGGG	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	154	0.0065	440	c.-31 others(461): Show c.-319-12980_-319-12979insCCCCCATCCCTGCCCCAGTACCCC TGCCCCACCTCCCCACCCTCTGCACCCCTCCCCCACCTTCCCGCACCCCC ATCCCTGCCCCAGTACCCCTGCCCCACCTCCCCACCCTCTGCACCCCTCC CCCACCTTCCCACCTTCCCGCATCCCCATCCCTGCCCCAGTACCCCTGCC CCACCTCCCCACCCTCTGCACCCCTCCCCCACCTTCCCGCATCCCCATCC CTGCCCCAGTACCCTTTCCCCCACCTCCCCACCCTCTGCACCCCTCCCCC ACCTTCCCACCTTCCCGCATCCCCATCCCTGCCCCAGTACCCCTGCCCCA CCTCCCCACCCTCTGCACCCCTCCCCCACCTTCCCGCATCCCCATCCCTG CCCCAGTACCCTTTCCCCCACCTCCCCACCCTCTGCACCCCTCCCCCACC TTCCCACCTTCCCGCA	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RETNLB_chr3_108750638_108762410	108759494	T T	TGTATGTA others(433): Show TGTATGTATGTATGTGTATGCATACATATGTATGTGTATGCATACATATG TATGTGTATGCATACATATGTATGTGTATGCATACATATGTATGTGTATG CATACATATGTATGTATGTGTATACATACGTATGTATGTATGTGTATACA TACGTATGTATGTATGTGTATACATACGTATGTATGTATGTGTATACATA CGTATGTATGTGTACACATACATACGTATGTATGTGTACACATACGTATG TATGTGTACACATACATACGTATGTATGTGTACACATACGTATGTATGTG TACACATACATACGTATGTATGTGTACACATACGTATGTATGTGTACACA TACATACGTATGTATGTGTACACATACGTATGTATGTGTACACATACATA CGTATGTATGTGTACACATACGTATGTATGTGTACACATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	452	0.0022	440	c.-23 others(451): Show c.-2310_-2309insGTATGTGTACACATACATACGTATGTGTACACAT ACATACGTATGTATGTGTACACATACATACGTATGTGTACACATACATAC GTATGTATGTGTACACATACATACGTATGTGTACACATACATACGTATGT ATGTGTACACATACATACGTATGTGTACACATACATACGTATGTATGTGT ACACATACATACGTATGTGTACACATACATACGTATGTATGTGTACACAT ACATACGTATGTATACACATACATACATACGTATGTATACACATACATAC ATACGTATGTATACACATACATACATACGTATGTATACACATACATACAT ATGTATGCATACACATACATATGTATGCATACACATACATATGTATGCAT ACACATACATATGTATGCATACACATACATATGTATGCATACACATACAT ACATAC	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2085		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759658	C C	CATACGTA others(433): Show CATACGTATGTATGTATGTGTATACATACGTATGTATGTATGTGTATACA TACGTATGTATGTGTATACATACGTATGTATGTATGTGTATACATACGTA TGTATGTGTATACATACGTATGTATGTATGTGTATACATACGTATGTATG TGTATACATACGTATGTATGTATGTGTATACATACGTATGTATGTGTATA CATACATACGTATGTATGTGTACACATACATACGTATGTATGTGTACACA TACATATGTATGTGTACACATACATACGTATGTATGTGTACACATACATA CGTATGTATGTGTACACATACATACGTATGTATGTGTATACATACGTATG TATGTGTATACATACGTATGTATGTGTATACATACGTATGTATGTGTATA CATACATACGTATGTATGTGTATACATACGTATGTATGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	452	0.0022	440	c.-24 others(451): Show c.-2474_-2473insACACATACATACGTATGTATACACATACATACGT ATGTATGTATACACATACATACGTATGTATACACATACATACGTATGTAT ACACATACATACGTATGTATACACATACATACGTATGTATGTGTACACAT ACATACGTATGTATGTGTACACATACATACGTATGTATGTGTACACATAC ATATGTATGTGTACACATACATACGTATGTATGTGTACACATACATACGT ATGTATGTATACACATACATACGTATGTATACACATACATACATACGTAT GTATACACATACATACGTATGTATACACATACATACATACGTATGTATAC ACATACATACGTATGTATACACATACATACATACGTATGTATACACATAC ATACGTATGTATACACATACATACATACGTATGTATACACATACATACAT ACGTAT	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2249		chr3	TogoVar
RFTN1_chr3_16310845_16518699	16403868	T T	TATATAAT others(433): Show TATATAATATATAATACATATTTTATATATATTTTATATATAATATATAA TACATATTTTATATATATTTTATATATAATATATAATACATATTTTATAT ATATTTTATATATAATATATAATATATATTTTATATATATTTTATATATA ATATATATTTTATATATATTTTATATATAATATATATTTTATATATATTT TATATATAATATATATTTTATATATATTTTATATATAATATATATTTTAT ATATATTTTATATATAATATATATTTTATATATATTATATATAATATATT ATATTTTATATATATTTTATATATAAAATATAATATATATTTTATATATA TTTTATATATAATATATAATATATATTTTATATATATTTTATATATAATA TATAATATATATTTTATATATTTTATATATAATATATAATA	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	268	0.0037	440	c.441 others(457): Show c.441+5506_441+5507insTATTATATATTATATATAAAATATATAA AATATATATTATATATTATATATAAAATATATATAAAATATATATTATAT ATTATATATAAAATATATATAAAATATATATTATATTTTATATATAAAAT ATATATAAAATATAATATATTATATATAATATATATAAAATATATATTAT ATATAAAATATATATAAAATATATATTATATATAAAATATATATAAAATA TATATTATATATAAAATATATATAAAATATATATTATATATAAAATATAT ATAAAATATATATTATATATAAAATATATATAAAATATATATTATATATT ATATATAAAATATATATAAAATATGTATTATATATTATATATAAAATATA TATAAAATATGTATTATATATTATATATAAAATATATATAAAATATGTAT TATATATTATAT	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	4/9			chr3	TogoVar
RICTOR_chr5_38932920_39079399	38990704	G G	GATATATA others(433): Show GATATATATGATATATCTGATATATATATATGATATATATCATATATATG ATATATATCTGATATATATCATATATATGATATATCTGATATATATCATA TATATGATATATCTGATATATATCATATATATGATATATCTGATATATAT CATATATATGATATATCTGATATATATCAGATATATGATATATATGATAT ATATCAGATATATGATATATCTGATATATATCAGATATGATATATATGAT ATATATCATATATATGATATATATCATATATATGATATATATGATATATA TGATATATATCATATATATGATATATATGATATATATGATATATATGAGA TATATCATATATATGAGATATATGAGATATATCATATATATGAGATATAT GAGATATATCATATATATGAGATATATGAGATATATCATAT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0045 a0001c0006t0045	a0001c0006t0045g0194 a0001c0006t0045g0194	1	338	0.0030	440	c.583 others(455): Show c.583+244_583+245insATATGATATATCTCATATATCTCATATATA TGATATATCTCATATATCTCATATATATGATATATCTCATATATCTCATA TATATGATATATCTCATATATATCATATATATCATATATATCATATATAT GATATATATCATATATATCATATATATCATATATATGATATATATCATAT ATATGATATATATCATATATATCATATCTGATATATATCAGATATATCAT ATATCTGATATATATCATATATATCATATATCTGATATATATCAGATATA TCATATATATGATATATATCAGATATATCATATATATGATATATATCAGA TATATCATATATATGATATATATCAGATATATCATATATATGATATATAT CAGATATATATCATATATATGATATATATCATATATATATATCAGATATA TCATATATAT	RICTOR	ENSG00000164327.14	transcript	ENST00000357387.8	protein_coding	7/37			chr5	TogoVar
RNF17_chr13_24759169_24884921	24881982	A A	ATATATAG others(433): Show ATATATAGATACATCTATATATAGATACATCTATATATAGATACATCTAT ATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATAT ATAGATACATCTATATATAGATACATCTATATAGAGATACATCTATATAT AGATACATCTATATAGAGATACATCTATATAGATATATAGATACATCTAT ATAGATATATAGATACATCTATATAGATATATAGATACATCTATATAGAT ATATAGATACATCTATATAGATATATAGATACATCTATATAGATATATAG ATACATCTATATAGATATATAGATACATCTATATATAGATACATCTATAT ATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATAT AGATACATCTATATAGAGATACATCTATATATAGATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0349 a0002c0003t0001g0349	1	426	0.0024	440	c.22 others(451): Show c.2256_*2257insTATATAGATACATCTATATATAGATACATCTATA TATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATA TAGATACATCTATATATAGATACATCTATATATAGATACATCTATATAGA GATACATCTATATATAGATACATCTATATAGAGATACATCTATATAGATA TATAGATACATCTATATAGATATATAGATACATCTATATAGATATATAGA TACATCTATATAGATATATAGATACATCTATATAGATATATAGATACATC TATATAGATATATAGATACATCTATATAGATATATAGATACATCTATATA TAGATACATCTATATATAGATACATCTATATATAGATACATCTATATATA GATACATCTATATATAGATACATCTATATAGAGATACATCTATATATAGA TACATC	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2062		chr13	TogoVar
SAMD12_chr8_118372984_118626963	118469545	T T	TATAATAT others(433): Show TATAATATATAATTATATAATATATATTATATATAATATATAATATATAT AATATATATTTATATATTATATAATATATAAATATATATTATATATAATA TATAATATATATTTATATATTATATATAATATATAATTATATTTATATAT TATATATAAATATATATTATATATAATATATATTATATATTATATATAAT ATATATTATATATAATATAAATATATATTATATATTATATATAATATATA TTATATATAATATATATTATATATAATATATAAATATAATATATATTATA TATAATATATAAATATATATTATATATTATATATAATATATATTTATATA TTATATAATATATAAATATATATTATATATATTTAATATATATTTTATAT ATAAATTATATATTATATATATTTAATATATATTTTATATA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0155 a0001c0001t0016g0155	1	188	0.0053	440	c.193 others(459): Show c.193-29585_193-29584insTATATAAAATATATATTAAATATATA TAATATATAATTTATATATAAAATATATATTAAATATATATAATATATAT TTATATATTATATAATATATAAATATATATTATATATAATATATAATATA TATTTATATATTATATATAATATATATTATATTTATATATTATATATAAT ATATATTATATATAATATATATTATATATAATATATAATATATATTTATA TTATATATAATATATATTATATATAATATATAATATATATTATATATAAT ATATATTTATATATAATATATAAATATAATTATATATTATATATAATATA TAAATATATATTATATATTATATATAATATATATTTATATATTATATAAT ATATAAATATATATTATATATATTATATATTATATATAATATATATTATA TAATTATATATTAT	SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	2/3			chr8	TogoVar
SAMD12_chr8_118372984_118626963	118469545	T T	TATAATAT others(433): Show TATAATATATAATTATATAATATATATTATATATAATATATAATATATAT AATATATATTTATATATTATATAATATATAAATATATATTATATATAATA TATAATATATATTTATATATTATATATAATATATAATTATATTTATATAT TATATATAAATATATATTATATATAATATATATTATATATTATATATAAT ATATATTATATATAATATAATATATATTATATATTATATATAATATATAT TATATATAATATATATTATATATAATATATAAATATAATTATATATTATA TATAATATATAAATATATATTATATATTATATATAATATATATTTATATA TTATATAATATATAAATATATATTATATATATTTAATATATATTTTATAT ATAAATTATATATTATATATATTTAATATATATTTTATATA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0151 a0001c0001t0002g0151	1	188	0.0053	440	c.193 others(459): Show c.193-29585_193-29584insTATATAAAATATATATTAAATATATA TAATATATAATTTATATATAAAATATATATTAAATATATATAATATATAT TTATATATTATATAATATATAAATATATATTATATATAATATATAATATA TATTTATATATTATATATAATATATAATTATATTTATATATTATATATAA TATATATTATATATAATATATATTATATATAATATATAATATATATTATA TTATATATAATATATATTATATATAATATATAATATATATTATATATAAT ATATATTTATATATAATATATAAATATAATTATATATTATATATAATATA TAAATATATATTATATATTATATATAATATATATTTATATATTATATAAT ATATAAATATATATTATATATATTATATATTATATATAATATATATTATA TAATTATATATTAT	SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	2/3			chr8	TogoVar
SAMD12_chr8_118372984_118626963	118469545	T T	TATAATAT others(433): Show TATAATATATAATTATATAATATATATTATATATAATATATAATATATAT AATATATATTTATATATTATATAATATATAAATATATATTATATATAATA TATAATATATATTTATATATTATATATAATATATAATTATATTTATATAT TATATATAATATATATTATATATAATATATATTATATATTATATATAATA TATATTATATATAATATAAATATATATTATATATTATATATAATATATAT TATATATAATATATATTATATATAATATATAAATATAATTATATATTATA TATAATATATAAATATATATTATATATTATATATAATATATATTTATATA TTATATAATATATAAATATATATTATATATATTTAATATATATTTTATAT ATAAATTATATATTATATATATTTAATATATATTTTATATA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0008 a0001c0001t0003g0008	1	188	0.0053	440	c.193 others(459): Show c.193-29585_193-29584insTATATAAAATATATATTAAATATATA TAATATATAATTTATATATAAAATATATATTAAATATATATAATATATAT TTATATATTATATAATATATAAATATATATTATATATAATATATAATATA TATTTATATATTATATATAATATATAATTATATTTATATATTATATATAA TATATATTATATATAATATATATTATATATAATATATAATATATATTTAT ATTATATATAATATATATTATATATAATATATAATATATATTATATATAA TATATATTATATATAATATATAAATATAATTATATATTATATATAATATA TAAATATATATTATATATTATATATAATATATATTTATATATTATATAAT ATATAAATATATATTATATATATTATATATTATATATAATATATATTATA TAATTATATATTAT	SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	2/3			chr8	TogoVar
SEMA4D_chr9_89372235_89503113	89462954	G G	GGGAGGGG others(433): Show GGGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGA GCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAG GGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGG GGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGC GAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGC GAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGG GAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGG AGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGA GGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02895.hp2 HG02897.hp1 HG02717.hp2 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0005 a0001c0004t0004 a0001c0001t0005 a0001c0004t0004	a0001c0001t0005g0028 a0001c0001t0005g0029 a0001c0004t0004g0030 a0001c0001t0005g0028 a0001c0001t0005g0029 a0001c0004t0004g0030	3	370	0.0081	440	c.-30 others(459): Show c.-309-7002_-309-7001insTCCCCTCGCTCGCTCCCCTCCCCTCG CTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCC CTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCC TCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCT CCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCT CGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCT CGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTC CCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCC CCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCG CTCCCCTCCCCTCC	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	1/15			chr9	TogoVar
SHISAL1_chr22_44238665_44317951	44302613	T T	TAGCAGGG others(433): Show TAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGC AAAGGCCCTGGGGTGGGTGCAGTGAGGAGGCAGCAGGGGCAAAGGCCCTG GGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGC GGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGG CAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGC AAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTG GGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGC GGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGG CAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGC	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0041 a0001c0002t0007g0041	1	380	0.0026	440	c.-32 others(457): Show c.-32-1637_-32-1636insGCCTCCTCACCGCACCCACCCCAGGGCC TTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTG CTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTC ACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACCGCACCCA CCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCC TTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTG CTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTC ACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACTGCACCCA CCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCC TTTGCCCCTGCT	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	1/4			chr22	TogoVar
SHISAL1_chr22_44238665_44317951	44302613	T T	TAGCAGGG others(433): Show TAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGC AAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTG GGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGC GGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGG CAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGC AAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTG GGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGC GGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGG CAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGC	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02135.hp2 HG02132.hp1 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0047 a0001c0002t0012 a0001c0001t0047 a0001c0002t0012	a0001c0001t0047g0059 a0001c0002t0012g0040 a0001c0001t0047g0059 a0001c0002t0012g0040	2	380	0.0053	440	c.-32 others(457): Show c.-32-1637_-32-1636insGCCTCCTCACCGCACCCACCCCAGGGCC TTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTG CTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTC ACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACCGCACCCA CCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCC TTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTG CTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTC ACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACCGCACCCA CCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCC TTTGCCCCTGCT	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	1/4			chr22	TogoVar
SHISAL1_chr22_44238665_44317951	44302737	A A	AGGGGCAA others(433): Show AGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCGGGGGCAAAG GCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGT GGGTGCGGTGAGGAGGCAGCGGGGGCAAAGGCCCTGGGGTGGGTGCGGTG AGGAGGCAGCGGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGC GGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCGGGGGCAAAG GCCCTGGGGTGGGTGCGGTGAGGAGGCAGCGGGGGCAAAGGCCCTGGGGT GGGTGCGGTGAGGAGGCAGCGGGGGCAAAGGCCCTGGGGTGGGTGCGGTG AGGAGGCAGCGGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGC GGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0300 a0001c0001t0011g0300	1	380	0.0026	440	c.-32 others(457): Show c.-32-1761_-32-1760insCGCTGCCTCCTCACCGCACCCACCCCAG GGCCTTTGCCCCCGCTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCC CCCGCTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCCGCTGCCT CCTCACCGCACCCACCCCAGGGCCTTTGCCCCCGCTGCCTCCTCACCGCA CCCACCCCAGGGCCTTTGCCCCCGCTGCCTCCTCACCGCACCCACCCCAG GGCCTTTGCCCCCGCTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCC CCCGCTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCCGCTGCCT CCTCACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACCGCA CCCACCCCAGGGCCTTTGCCCCCGCTGCCTCCTCACCGCACCCACCCCAG GGCCTTTGCCCC	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	1/4			chr22	TogoVar
SHISAL1_chr22_44238665_44317951	44302857	A A	AGGGGCAA others(433): Show AGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAG GCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGT GGGTGCGGTGAGGAGGCAGCGGGGGCAAAGGCCCTGGGGTGGGTGCGGTG AGGAGGCAGCGGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGC AGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAG GCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGT GGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTG AGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGC GGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCG	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	380	0.0026	440	c.-32 others(457): Show c.-32-1881_-32-1880insCGCTGCCTCCTCACCGCACCCACCCCAG GGCCTTTGCCCCCGCTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCC CCTGCTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCT CCTCACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACCGCA CCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAG GGCCTTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCC CCCGCTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCCGCTGCCT CCTCACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACCGCA CCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAG GGCCTTTGCCCC	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	1/4			chr22	TogoVar
SLC22A23_chr6_3263973_3462050	3356090	C C	CGGGGGGG others(433): Show CGGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGCAGGGGGGAGGCGG GGGGGCGGGAGGGGAGGAGGCGGGGAGGCGGGAGGGGGAGGAGGCGGGGG GGCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGCG GGAGGGGAGGAGGCGGGGGGGCGGGAGGGGGCCGGAGGGGGAGGAGGCGG GGGGGGCGGGGGGGCGGGAGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGG GAGGGGGGAGGCGGGGGGGCGGGAGGGGGCGGGAGGGGAAGGAGGCGGGG GGGGCGGGGGGGAGGGAGGGGAAGGAGGCGGGGGGGGCGGGAGGGGGAGG ACGCGGGGGGGGCGGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGGA GGGGGGAGGCGGGAGGGGAAGGAGGCGGGGGGGGCGGGAGG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	222	0.0045	440	c.914 others(459): Show c.914-32089_914-32088insCCTCCCGCCCCCCCCGCCTCCTTCCC CTCCCGCCTCCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTCCCGCCCCCC CCGCCCCCCCCGCGTCCTCCCCCTCCCGCCCCCCCCGCCTCCTTCCCCTC CCTCCCCCCCGCCCCCCCCGCCTCCTTCCCCTCCCGCCCCCTCCCGCCCC CCCGCCTCCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTCCCGCCCCTCCC GCCCCCCCGCCCCCCCCGCCTCCTCCCCCTCCGGCCCCCTCCCGCCCCCC CGCCTCCTCCCCTCCCGCCCCCCCGCCTCCCCCCTCCCGCCCCCCCGCCT CCTCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTCCCGCCTCCCCGCCTCC TCCCCTCCCGCCCCCCCGCCTCCCCCCTGCCGCCCCCCCGCCTCCTCCCC CTCCCGCCCCCCCC	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	3/9			chr6	TogoVar
SLC35F3_chr1_233899676_234329511	234098140	G G	GTGGTGGT others(433): Show GTGGTGGTAGTGATGGTGTTATACGGTGATGATGGAGGTGGTGACTGTGT TGGTGGTGACAGTTCAGATGGTGGTGGTAGTGACGGTGTCATAGGGTGAT GATGGAGGTGGTGATTGTGTGTTGGTGGTGGTGGCAGTTCAGATGGTGGT GGTAGTGATGGTGTCATAGGGTGATGATGGAGGTGGTGACTGTGTTAGTG GTGGTGGTGGTGGCAGTTCAGATGGTGGTAGTGATGGTGTCATAGGGTGA TGGTGGAGGTGGTGACTGTGTTGGTGGTGGCAGTTCAGATGGTGGTGGTA GTGACGGTGTTATAGGGTGATGATGGAGGTGGTGATTGTGTTGGTGGTGG TGGCAGTTCAGATGGTGGTGGTAGTGATGGTGTCATAGGGTGATGATGGA GGTGGTGACTGTGTTAGTGGTGGTGGTGGTGGCAGTTCAGA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0152 a0001c0002t0002g0152	1	158	0.0063	440	c.284 others(461): Show c.284-133144_284-133143insCAGTTCAGATGGTGGTGGTAGTGA TGGTGTCATAGGGTGATGATGGAGGTGGTGACTGTGTTAGTGGTGGTGGT GGTGGCAGTTCAGATGGTGGTAGTGATGGTGTCATAGGGTGATGGTGGAG GTGGTGACTGTGTTGGTGGTGGCAGTTCAGATGGTGGTGGTAGTGACGGT GTTATAGGGTGATGATGGAGGTGGTGATTGTGTTGGTGGTGGTGGCAGTT CAGATGGTGGTGGTAGTGATGGTGTCATAGGGTGATGATGGAGGTGGTGA CTGTGTTAGTGGTGGTGGTGGTGGCAGTTCAGATGGTGGTAGTGATGGTG TTATACGGTGATGATGGAGGTGGTGACTGTGTTGGTGGTGACAGTTCAGA TGGTGGTGGTAGTGACGGTGTCATAGGGTGATGATGGAGGTGGTGATTGT GTGTTGGTGGTGGTGG	SLC35F3	ENSG00000183780.13	transcript	ENST00000366618.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
SMYD3_chr1_245744347_246512279	245798398	A A	ACACACCA others(433): Show ACACACCACACATACACACACACACACATACACAAACACACACACATACA CACCACACACACATACCCACACACACACATACATACACACACACCACACA CCCCCACACACATACACACACACAAAAATACACATACACACAAACACACA AATACACACATACACACAAAAATACACATACACACAAACACACAAATACA CACACAGAAATACACATACATACACACACACACCCACATACCCACACACA CATACCCACACACCCACAAACACACATACACACACACACACACAAATACA CACACATACATAACACACCCACACACATACACACACACAAACACACAAAT ACACACATACACATACAAAAATACACACATACACACACACAAATACACAC ATACACACACATACCCACACACACACATACACACACATACT	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0043	1	150	0.0067	440	c.107 others(461): Show c.1077-34250_1077-34249insAGTATGTGTGTGTATGTGTGTGTG TGGGTATGTGTGTGTATGTGTGTATTTGTGTGTGTGTATGTGTGTATTTT TGTATGTGTATGTGTGTATTTGTGTGTTTGTGTGTGTGTATGTGTGTGGG TGTGTTATGTATGTGTGTGTATTTGTGTGTGTGTGTGTGTATGTGTGTTT GTGGGTGTGTGGGTATGTGTGTGTGGGTATGTGGGTGTGTGTGTGTATGT ATGTGTATTTCTGTGTGTGTATTTGTGTGTTTGTGTGTATGTGTATTTTT GTGTGTATGTGTGTATTTGTGTGTTTGTGTGTATGTGTATTTTTGTGTGT GTGTATGTGTGTGGGGGTGTGTGGTGTGTGTGTATGTATGTGTGTGTGTG GGTATGTGTGTGTGGTGTGTATGTGTGTGTGTTTGTGTATGTGTGTGTGT GTGTATGTGTGGTGTG	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	10/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245798398	A A	ACACACCA others(433): Show ACACACCACACATACACACACACACACATACACACACAAACACACACACA TACACACCACACACACATACCCACACACACACATACATACACACACACCA CACACCCCCACACACATACACACACACAAAAATACACATACACACAAACA CACAAATACACACATACACACAAAAATACACATACACACAAACACACAAA TACACACACAGAAATACACATACATACACACACACACCCACATACCCACA CACACATACCCACACACCCACAAACACACATACACACACACACACAAATA CACACACATACATAACACACCCACACACATACACACACACAAACACACAA ATACACACATACACATACAAAAATACACACATACACACACAAATACACAC ATACACACACATACCCACACACACACATACACACACATACT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0132 a0002c0007t0001g0132	1	150	0.0067	440	c.107 others(461): Show c.1077-34250_1077-34249insAGTATGTGTGTGTATGTGTGTGTG TGGGTATGTGTGTGTATGTGTGTATTTGTGTGTGTATGTGTGTATTTTTG TATGTGTATGTGTGTATTTGTGTGTTTGTGTGTGTGTATGTGTGTGGGTG TGTTATGTATGTGTGTGTATTTGTGTGTGTGTGTGTATGTGTGTTTGTGG GTGTGTGGGTATGTGTGTGTGGGTATGTGGGTGTGTGTGTGTATGTATGT GTATTTCTGTGTGTGTATTTGTGTGTTTGTGTGTATGTGTATTTTTGTGT GTATGTGTGTATTTGTGTGTTTGTGTGTATGTGTATTTTTGTGTGTGTGT ATGTGTGTGGGGGTGTGTGGTGTGTGTGTATGTATGTGTGTGTGTGGGTA TGTGTGTGTGGTGTGTATGTGTGTGTGTTTGTGTGTGTATGTGTGTGTGT GTGTATGTGTGGTGTG	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	10/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245798398	A A	ACACACCA others(433): Show ACACACCACACATACACACACACACACATACACACACACACACACATACA CACCACACACACATACCCACACACACACATACATACACACACACCACACA CCCCCACACACATACACACACACAAAAATACACATACACACAAACACACA AATACACACATACACACAAAAATACACATACACACAAACACACAAATACA CACACAGAAATACACATACATACACACACACACCCACATACCCACACACA CATACCCACACACCCACAAACACACATACACACACACACACAAATACACA CACATACATAACACACCCACACACATACACACACACACACAAACACACAA ATACACACATACACATACAAAAATACACACATACACACACAAATACACAC ATACACACACATACCCACACACACACATACACACACATACT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp2 HG02132.hp2 others(6): Show HG02071.hp1 HG02071.hp2 HG02132.hp2 HG04115.hp1 NA18963.hp1 NA18965.hp1 NA18965.hp2 NA18971.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0012 a0001c0001 a0001c0002 a0001c0012	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0012t0002	a0001c0001t0001g0069 a0001c0001t0001g0075 a0001c0001t0001g0086 others(6): Show a0001c0001t0001g0069 a0001c0001t0001g0075 a0001c0001t0001g0086 a0001c0001t0002g0071 a0001c0001t0002g0081 a0001c0002t0001g0053 a0001c0002t0001g0064 a0001c0002t0002g0070 a0001c0012t0002g0074	9	150	0.0600	440	c.107 others(461): Show c.1077-34250_1077-34249insAGTATGTGTGTGTATGTGTGTGTG TGGGTATGTGTGTGTATGTGTGTATTTGTGTGTGTATGTGTGTATTTTTG TATGTGTATGTGTGTATTTGTGTGTTTGTGTGTGTGTGTGTATGTGTGTG GGTGTGTTATGTATGTGTGTGTATTTGTGTGTGTGTGTGTATGTGTGTTT GTGGGTGTGTGGGTATGTGTGTGTGGGTATGTGGGTGTGTGTGTGTATGT ATGTGTATTTCTGTGTGTGTATTTGTGTGTTTGTGTGTATGTGTATTTTT GTGTGTATGTGTGTATTTGTGTGTTTGTGTGTATGTGTATTTTTGTGTGT GTGTATGTGTGTGGGGGTGTGTGGTGTGTGTGTATGTATGTGTGTGTGTG GGTATGTGTGTGTGGTGTGTATGTGTGTGTGTGTGTGTATGTGTGTGTGT GTGTATGTGTGGTGTG	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	10/11			chr1	TogoVar
SNTG2_chr2_945849_1372613	1099590	A A	AGTGAGGG others(433): Show AGTGAGGGCAGTGATGGTCAGGTCATCTGAAGGTGGGTGTAGTGAGGGCA GTGATGGTCAGGTCCTCTGAAGGTGGGTGCAGTGAGGGCAGCGATGGTCA GGTCATCTGAAGGTGGGTGTGGTGAGGGCAGCGATGGTCAGGTCCTCTGA AGGTGGGTGTAGTGAGGGCAGTGATGGTCAGGTCCTCTGAAGGTGGGTGC AGTGAGGGCAGCGATGGTCAGGTCCTCTGAAGGTGGGTGTAGTGAGGGCA GTGATGGTCAGGTCCTCTGAAGGTGGGTGCGGTGAGGGCAGCGATGGTTC GGTCCTCTGAAGGTGGGTGCAGTGAGGGCAGTGATGGTCAGGTCCTCTAA AGGTGAGTGTGGTGAGGGCAGTGATGGTCAGGTCCTCTGAAGGTGGGTGT GGTGAGGGCAGTGATGGTCAGGTCCTCTGAAGGTGGGTGTG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01346.hp1 HG01975.hp2 others(14): Show HG01192.hp2 HG01346.hp1 HG01975.hp2 HG02165.hp2 HG02300.hp1 HG02602.hp2 HG02738.hp1 HG02738.hp2 HG03490.hp2 HG03710.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 NA18943.hp1 NA18969.hp1 NA18990.hp2 NA19000.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0006 a0008 a0014 a0019	a0001c0001 a0001c0002 a0002c0005 others(6): Show a0001c0001 a0001c0002 a0002c0005 a0003c0007 a0004c0014 a0006c0010 a0008c0011 a0014c0032 a0019c0030	a0001c0001t0001 a0001c0002t0001 a0002c0005t0001 others(6): Show a0001c0001t0001 a0001c0002t0001 a0002c0005t0001 a0003c0007t0001 a0004c0014t0001 a0006c0010t0001 a0008c0011t0001 a0014c0032t0001 a0019c0030t0001	a0001c0001t0001g0035 a0001c0002t0001g0007 a0001c0002t0001g0010 others(14): Show a0001c0001t0001g0035 a0001c0002t0001g0007 a0001c0002t0001g0010 a0001c0002t0001g0023 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0137 a0001c0002t0001g0172 a0002c0005t0001g0032 a0002c0005t0001g0107 a0003c0007t0001g0055 a0004c0014t0001g0036 a0004c0014t0001g0054 a0006c0010t0001g0012 a0008c0011t0001g0004 a0014c0032t0001g0059 a0019c0030t0001g0160	17	190	0.0895	440	c.325 others(457): Show c.325+1203_325+1204insATCTGAAGGTGGGTGTAGTGAGGGCAGT GATGGTCAGGTCCTCTGAAGGTGGGTGCAGTGAGGGCAGCGATGGTCAGG TCATCTGAAGGTGGGTGTGGTGAGGGCAGCGATGGTCAGGTCCTCTGAAG GTGGGTGTAGTGAGGGCAGTGATGGTCAGGTCCTCTGAAGGTGGGTGCAG TGAGGGCAGCGATGGTCAGGTCCTCTGAAGGTGGGTGTAGTGAGGGCAGT GATGGTCAGGTCCTCTGAAGGTGGGTGCGGTGAGGGCAGCGATGGTTCGG TCCTCTGAAGGTGGGTGCAGTGAGGGCAGTGATGGTCAGGTCCTCTAAAG GTGAGTGTGGTGAGGGCAGTGATGGTCAGGTCCTCTGAAGGTGGGTGTGG TGAGGGCAGTGATGGTCAGGTCCTCTGAAGGTGGGTGTGGTGAGGGCAGT GATGGTCAGGTC	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1099590	A A	AGTGAGGG others(433): Show AGTGAGGGCAGTGATGGTCAGGTCCTCTGAAGGTGGGTGTAGTGAGGGCA GTGATGGTCAGGTCCTCTGAAGGTGGGTGCAGTGAGGGCAGCGATGGTCA GGTCATCTGAAGGTGGGTGTGGTGAGGGCAGCGATGGTCAGGTCCTCTGA AGGTGGGTGTAGTGAGGGCAGTGATGGTCAGGTCCTCTGAAGGTGGGTGC AGTGAGGGCAGCGATGGTCAGGTCCTCTGAAGGTGGGTGTAGTGAGGGCA GTGATGGTCAGGTCCTCTGAAGGTGGGTGCGGTGAGGGCAGCGATGGTTC GGTCCTCTGAAGGTGGGTGCAGTGAGGGCAGTGATGGTCAGGTCCTCTAA AGGTGAGTGTGGTGAGGGCAGTGATGGTCAGGTCCTCTGAAGGTGGGTGT GGTGAGGGCAGTGATGGTCAGGTCCTCTGAAGGTGGGTGTG	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0022 a0001c0002t0001g0022	1	190	0.0053	440	c.325 others(457): Show c.325+1218_325+1219insTAGTGAGGGCAGTGATGGTCAGGTCCTC TGAAGGTGGGTGCAGTGAGGGCAGCGATGGTCAGGTCATCTGAAGGTGGG TGTGGTGAGGGCAGCGATGGTCAGGTCCTCTGAAGGTGGGTGTAGTGAGG GCAGTGATGGTCAGGTCCTCTGAAGGTGGGTGCAGTGAGGGCAGCGATGG TCAGGTCCTCTGAAGGTGGGTGTAGTGAGGGCAGTGATGGTCAGGTCCTC TGAAGGTGGGTGCGGTGAGGGCAGCGATGGTTCGGTCCTCTGAAGGTGGG TGCAGTGAGGGCAGTGATGGTCAGGTCCTCTAAAGGTGAGTGTGGTGAGG GCAGTGATGGTCAGGTCCTCTGAAGGTGGGTGTGGTGAGGGCAGTGATGG TCAGGTCCTCTGAAGGTGGGTGTGGTGAGGGCAGTGATGGTCAGGTCCTC TGAAGGTGGGTG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPIRE2_chr16_89823475_89876319	89852469	C C	CCCGTCTT others(433): Show CCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCATCC GTCTTCTCTCTCACCCCCCGGATCCCATGATCCATCTTCCATCCTCCCTC TCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCG GATCCCATGGCCCGTCTTCCGTCTTCTCTCTCACCCCCCGGATCCCATGA TCCATCTTCCATCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCC GTCTTCTCTCTCACCCCCCGGATCCCATGATCCATCTTCCATCCTCCCTC TCACCCCCCGGATCCCATGGCCCGTCTTCCGTCTTCTCTCTCACCCCCCG GATCCCATGATCCATCTTCCATCCTCCCTCTCACCCCCCGGATCCCATGG CCCGTCTTCCGTCTTCTCTCTCACCCCCCGGATCCCATGAT	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19085.hp2 NA19074.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0109 a0001c0001t0001g0111	2	356	0.0056	440	c.645 others(457): Show c.645+1811_645+1812insGTCTTCCGTCCTCCCTCTCACCCCCCGG ATCCCATGGCCCGTCATCCGTCTTCTCTCTCACCCCCCGGATCCCATGAT CCATCTTCCATCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCG TCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCTTCTCTCT CACCCCCCGGATCCCATGATCCATCTTCCATCCTCCCTCTCACCCCCCGG ATCCCATGGCCCGTCTTCCGTCTTCTCTCTCACCCCCCGGATCCCATGAT CCATCTTCCATCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCG TCTTCTCTCTCACCCCCCGGATCCCATGATCCATCTTCCATCCTCCCTCT CACCCCCCGGATCCCATGGCCCGTCTTCCGTCTTCTCTCTCACCCCCCGG ATCCCATGATCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852705	T T	TCCATCTT others(433): Show TCCATCTTCCATCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCC GTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTC TCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCG GATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGG CCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCC GTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCTTCTCTC TCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCG GATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGG CCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	356	0.0028	440	c.646 others(457): Show c.646-1579_646-1578insATCTTCCATCCTCCCTCTCACCCCCCGG ATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGC CCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCG TCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCT CACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGG ATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGC CCGTCTTCCGTCTTCTCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCG TCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCT CACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGC ATCCCATGGCCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852705	T T	TCCATCTT others(433): Show TCCATCTTCCATCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCC GTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTC TCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCTG GATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGG CCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCC GCCCTCCCTCTCACCCCCCGGATCCCATGATCCGTCTTCCGTCCTCCCTC TCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCG CATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGG CCCGTCTTCTGTCCTCCCTCTCACCCCCCGCATCCCATGGC	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0002 a0005c0007t0002	a0005c0007t0002g0052 a0005c0007t0002g0052	1	356	0.0028	440	c.646 others(457): Show c.646-1579_646-1578insATCTTCCATCCTCCCTCTCACCCCCCGG ATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGC CCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCG TCCTCCCTCTCACCCCCTGGATCCCATGGCCCGTCTTCCGTCCTCCCTCT CACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGG ATCCCATGGCCCGTCTTCCGCCCTCCCTCTCACCCCCCGGATCCCATGAT CCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCG TCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCT CACCCCCCGCATCCCATGGCCCGTCTTCTGTCCTCCCTCTCACCCCCCGC ATCCCATGGCCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SRXN1_chr20_641615_658200	642207	T T	TGCCCAGC others(433): Show TGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTT GCCTGTGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCA GCGGGGATGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTG GGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGG TGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGG GGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGT TGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGTGGGGGGCCC AGCGGGGGTGGAGTTGCCTGTGGGGGGGCCCAGCGGGGGTGGAGTTGCCT GTGGGGGGGGGCCCAGCAGGGGTGGAGTTGCCTGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00621.hp2 NA18747.hp2 others(4): Show HG00558.hp1 HG00621.hp2 NA18747.hp2 NA18944.hp1 NA18952.hp2 NA19007.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0028 a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0028	7	422	0.0166	440	c.65 others(451): Show c.6506_*6507insCCCCCCCCAGGCAACTCCACCCCTGCTGGGCCCC CCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCCACAGGCAACTCCAC CCCCGCTGGGCCCCCCACCACAGGCAACTCCACCCCCGCTGGGCCCCCCC CCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCG CTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGC AACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGC CCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCA TCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCC CACAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCG CTGGGC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4407		chr20	TogoVar
SUFU_chr10_102498972_102638535	102638057	A A	AAAAATAT others(433): Show AAAAATATATAATATATTATATATGATCATATATAATATATATTATATAT GATCATATAAAATATATAATATATTATATATGATCATATAAAATATATAA TATATTATATATGATCATATAAAATATATAATATATTATATATGATCATA TAAATATATAATATATTAATATGATCATATAAATATATAATATATTATAT ATGATCATATAAAATATATAATATATTATACATGATCATATAAAATATAT AATATACATGATCATATAAAATATATAATATAATATACATGATCATATAA AATATATAATATACATGATCATATAAAATATATATTATACATGATCATAT AAAAATATATATATTATATATGATCATATATAATATATAATATATTATAT ATGATCATATAAAATATATAATATATTATATATGATCATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG03041.hp2 HG03098.hp2 others(2): Show HG02922.hp1 HG03041.hp2 HG03098.hp2 HG03225.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0123 others(2): Show a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0159	5	268	0.0187	440	c.79 others(451): Show c.7902_*7903insAAAATATATAATATATTATATATGATCATATATA ATATATATTATATATGATCATATAAAATATATAATATATTATATATGATC ATATAAAATATATAATATATTATATATGATCATATAAAATATATAATATA TTATATATGATCATATAAATATATAATATATTAATATGATCATATAAATA TATAATATATTATATATGATCATATAAAATATATAATATATTATACATGA TCATATAAAATATATAATATACATGATCATATAAAATATATAATATAATA TACATGATCATATAAAATATATAATATACATGATCATATAAAATATATAT TATACATGATCATATAAAAATATATATATTATATATGATCATATATAATA TATAATATATTATATATGATCATATAAAATATATAATATATTATATATGA TCATAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4523		chr10	TogoVar
SUMF1_chr3_4356146_4472269	4456822	G G	GTATATAT others(433): Show GTATATATACGTGTATATATATACGTGTGTGTGTATATATACGTGTATAT ATATACGTGTATATATACACGTGTATATATATACGTGTATATATACACGT GTATATATATACACGTGTGTATATATACACGTGTATATATATACACGTGT GTATATATACACGTGTATATATATACACGTGTGTATATATACACGTGTAT ATATATACACGTGTGTATATATACACGTGTATATATATACGTGTGTGTAT ATATACACGTGTATATATATACGTGTGTGTATATATACACGTGTATATAT ATACGTGTGTGTATATATACACGTGTATATATATACGTGTGTGTATATAT ACACGTGTATATATATACGTGTGTGTATATATACACGTGTATATATATAC GTGTGTGTATATATACACGTGTATATATATACGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0297 a0001c0001t0007g0297	1	392	0.0026	440	c.271 others(457): Show c.271-3774_271-3773insTACACACACGTATATATATACACGTGTA TATATACACACACGTATATATATACACGTGTATATATACACACACGTATA TATATACACGTGTATATATACACACACGTATATATATACACGTGTATATA TACACACACGTATATATATACACGTGTATATATACACACACGTATATATA TACACGTGTATATATACACACACGTATATATATACACGTGTATATATACA CACGTGTATATATATACACGTGTATATATACACACGTGTATATATATACA CGTGTATATATACACACGTGTATATATATACACGTGTATATATACACACG TGTATATATATACACGTGTATATATACACGTATATATATACACGTGTATA TATACACGTATATATATACACGTATATATACACACACACGTATATATATA CACGTATATATA	SUMF1	ENSG00000144455.14	transcript	ENST00000272902.10	protein_coding	1/8			chr3	TogoVar
TALDO1_chr11_742464_770012	763236	C C	CCCCCGCC others(433): Show CCCCCGCCCTCACCCGCCCCCGCCCTCACCCATCCCCGCCCTCACCCATC CCCGCCCTCACCGTCCCCGCCCTCACCCGCCCCCGCCCTCACCCGCCCCC GCCCTCACCCGCCCCCGCCCTCACCCGCCCCCGCCCTCACCCGCCCCCGC CCTCACCCATCCCCGCCCTCACCCATCCCCGCCCTCACCGTCCCCGCCCT CACCCGCCCCCGCCCTCACCCGCCCCCGCCCTCACCCATCCCCGCCCTCA CCCATCCCCGCCCTCACCGTCCCCGCCCTCACCGTCCCCGCCCTCACCCG CCCCCGCCCTCACCCGTCCCCGCCCTCACCCATCCCCGCCCTCACCGTCC CCGCCCTCACCGTCCCCGCCCTCACCCGCCCCCGCCCTCACCCATCCCCG CCCTCACCCATCCCCGCCCTCACCGTCCCCGCCCTCACCGT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	416	0.0024	440	c.462 others(453): Show c.462-94_462-93insGCCCCCGCCCTCACCCATCCCCGCCCTCACCC ATCCCCGCCCTCACCGTCCCCGCCCTCACCCGCCCCCGCCCTCACCCGCC CCCGCCCTCACCCGCCCCCGCCCTCACCCGCCCCCGCCCTCACCCGCCCC CGCCCTCACCCATCCCCGCCCTCACCCATCCCCGCCCTCACCGTCCCCGC CCTCACCCGCCCCCGCCCTCACCCGCCCCCGCCCTCACCCATCCCCGCCC TCACCCATCCCCGCCCTCACCGTCCCCGCCCTCACCGTCCCCGCCCTCAC CCGCCCCCGCCCTCACCCGTCCCCGCCCTCACCCATCCCCGCCCTCACCG TCCCCGCCCTCACCGTCCCCGCCCTCACCCGCCCCCGCCCTCACCCATCC CCGCCCTCACCCATCCCCGCCCTCACCGTCCCCGCCCTCACCGTCCCCGC CCTCACCC	TALDO1	ENSG00000177156.11	transcript	ENST00000319006.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
TBC1D22A_chr22_46757650_47180693	47170899	C C	CGGAGAGA others(433): Show CGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGA GAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGGAC AGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGGACAGTCCT GGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTG TAACCCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAACCC TCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAACGCTCCTGA TGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGG ACCGGAGAGAGGACAGTCCTGGTGTGTAACGCTCCTGATGCAGGACCGGA AAGAGGACAGTCCTGGTGTGTAACCTTCCTGATGTGGGGCT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0022 a0001c0001t0004g0022	1	112	0.0089	440	c.142 others(459): Show c.1426-2590_1426-2589insACAGTCCTGGTGTGTAACCCTCCTGA TGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGG ACCGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGA GAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGG ACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGGACAGTC CTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTG TGTAACGCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAAC CCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAACGCTCCT GATGCAGGACCGGAAAGAGGACAGTCCTGGTGTGTAACCTTCCTGATGTG GGGCTGGAGAGAGG	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	47170909	G G	GCAGTCCT others(433): Show GCAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGGACAGTC CTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTG TGTAACGCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAAC CCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAACCTTCCT GATGCAGGACCAGAGAGAGGACGGTCCTGGTGTGTAACCCTCCTGATGTG GGAATGGAGAGAGGACGGTCCTGGTGTGTAACCCTCCTGATGCAGGACCG GAGAGAGGACAGTCCTGGTGTGTAATCTTCCTGATGCAGGACCAGAGAGA GGACGGTCCTGGTGTGTAACCCTCCTGATGTGGGAATGGAGAGAGGACGG TCCTGGTGTGTAACCCTCCTGATGCGGGGCTGGAGAGAGGA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0015	1	112	0.0089	440	c.142 others(459): Show c.1426-2573_1426-2572insCCCTCCTGATGCAGGACCGGAGAGAG GACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGGACAGT CCTGGTGTGTAACGCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGT GTGTAACCCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAA CCTTCCTGATGCAGGACCAGAGAGAGGACGGTCCTGGTGTGTAACCCTCC TGATGTGGGAATGGAGAGAGGACGGTCCTGGTGTGTAACCCTCCTGATGC AGGACCGGAGAGAGGACAGTCCTGGTGTGTAATCTTCCTGATGCAGGACC AGAGAGAGGACGGTCCTGGTGTGTAACCCTCCTGATGTGGGAATGGAGAG AGGACGGTCCTGGTGTGTAACCCTCCTGATGCGGGGCTGGAGAGAGGACA GTCCTGGTGTGTAA	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TCEA3_chr1_23375909_23429748	23392405	T T	TCATACAC others(433): Show TCATACACACACACTCCACACATCATACACACACACTCCACACATCATAC ATAAAACACACTCCACACATCATACACACCACACACACTCCACACATCAT ACACACCACACACACTCCACACATCGTACACAAAACACACTCCACACATC ATACACAAAACACACTCCACACATCATACACACCACATACACTCCACACA TCATACACACACACTCCACACATCATACACACACACTCCACACGTCATAC ACACACACACACTCCACACATCATACACAATACACACTCCACACATCATA CACAATACACACTCCACACATCATACACACACACTCCACACATCATACAC AATACACACTCCACACATCATACACAAAACACACTCCACACATCATACAC ACACACTCCACACATCATGCACAATACACACACACTCCACA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02630.hp1 HG03139.hp2 HG01884.hp1 HG02630.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0312 a0001c0001t0008g0161 a0001c0001t0008g0162 a0001c0001t0002g0312 a0001c0001t0008g0161 a0001c0001t0008g0162	3	378	0.0079	440	c.819 others(457): Show c.819+1473_819+1474insTGTGGAGTGTGTGTGTATTGTGCATGAT GTGTGGAGTGTGTGTGTATGATGTGTGGAGTGTGTTTTGTGTATGATGTG TGGAGTGTGTATTGTGTATGATGTGTGGAGTGTGTGTGTATGATGTGTGG AGTGTGTATTGTGTATGATGTGTGGAGTGTGTATTGTGTATGATGTGTGG AGTGTGTGTGTGTGTATGACGTGTGGAGTGTGTGTGTATGATGTGTGGAG TGTGTGTGTATGATGTGTGGAGTGTATGTGGTGTGTATGATGTGTGGAGT GTGTTTTGTGTATGATGTGTGGAGTGTGTTTTGTGTACGATGTGTGGAGT GTGTGTGGTGTGTATGATGTGTGGAGTGTGTGTGGTGTGTATGATGTGTG GAGTGTGTTTTATGTATGATGTGTGGAGTGTGTGTGTATGATGTGTGGAG TGTGTGTGTATG	TCEA3	ENSG00000204219.11	transcript	ENST00000450454.7	protein_coding	8/10			chr1	TogoVar
TEX19_chr17_82354247_82368775	82361189	G G	GTTCCCTC others(433): Show GTTCCCTCAGGTTCCCCCAGTTTCCCTCAGGTTCCCTCAGGTTCCCTCAG GTTCCCCCAGTTTCCCTCAGGTTCCCTCAAGTTTCCCTCAGGTTCCCTCA GTTTCCCTCAAGTTTCCCTCAGGTTCCCCCAGTTTCCCTCAGGTTCCCTC AGTTTCCCTCAAGTTTCCCTCAAGTTCCCCCAGTTTCCCTCAAGTTTCCC TCAGTTTCCCTCAAGTTCCCCTCAGGTTCCCCCAGTTTCCCTCAGGTTCC CTCAGGTTCCCTAAGGTTCTCTCAAGTTCCCTCAAGTTTCCCTCAGTTTC CCTCAAGTTTCCCTCAGTTTCCCTCAAGTTTCCCCCAGTTTCCCTCAAGT TTCCCTCAGTTTCCCTCAAGTTTCCCTCAGGTTCCCCCAGTTTCCCTCAG GTTCCCCCAGTTTCCCTCAGGTTCCCTCAGTTTCCCCCAGT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0034 a0001c0002t0002g0034	1	380	0.0026	440	c.-27 others(457): Show c.-271-682_-271-681insGTTCCCCCAGTTTCCCTCAGGTTCCCTC AGGTTCCCTCAGGTTCCCCCAGTTTCCCTCAGGTTCCCTCAAGTTTCCCT CAGGTTCCCTCAGTTTCCCTCAAGTTTCCCTCAGGTTCCCCCAGTTTCCC TCAGGTTCCCTCAGTTTCCCTCAAGTTTCCCTCAAGTTCCCCCAGTTTCC CTCAAGTTTCCCTCAGTTTCCCTCAAGTTCCCCTCAGGTTCCCCCAGTTT CCCTCAGGTTCCCTCAGGTTCCCTAAGGTTCTCTCAAGTTCCCTCAAGTT TCCCTCAGTTTCCCTCAAGTTTCCCTCAGTTTCCCTCAAGTTTCCCCCAG TTTCCCTCAAGTTTCCCTCAGTTTCCCTCAAGTTTCCCTCAGGTTCCCCC AGTTTCCCTCAGGTTCCCCCAGTTTCCCTCAGGTTCCCTCAGTTTCCCCC AGTTTCCCTCAG	TEX19	ENSG00000182459.5	transcript	ENST00000333437.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr17	TogoVar
TH_chr11_2158929_2176815	2161948	C C	CACCCCTG others(433): Show CACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCAGGACCCC TGTCCCCACACCCCTGTCCCCACACCCCTATCCCCACACCCCTGTCCCCA CACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCT GTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCA CACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCT GTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAG ACCCCTGTCCCCACACCCCTGTCCCCCGGACCCCTGTCCCCACACCCCTG TCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGA CCCCTGTCCCCACACCCCTGTCCCCAGGACCCTGTCCCCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0014 a0001c0003t0001g0014	1	388	0.0026	440	c.22 others(451): Show c.2284_*2285insCCGGGGACAGGGTCCTGGGGACAGGGGTGTGGGG ACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGT CTGGGGACAGGGGTGTGGGGACAGGGGTCCGGGGGACAGGGGTGTGGGGA CAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTC TGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGAC AGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCC TGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGAC AGGGGTGTGGGGACAGGGGTGTGGGGATAGGGGTGTGGGGACAGGGGTGT GGGGACAGGGGTCCTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGAC AGGGGT	TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding		1980		chr11	TogoVar
TMEM120B_chr12_121707752_121787068	121747505	C C	TGGGAGGC others(433): Show TGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGC ACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTG GGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGC TGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTG GGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTG GGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGG CGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGC	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0055 a0001c0001t0006g0055	1	314	0.0032	440	c.189 others(455): Show c.189-822_189-821insTGGGAGGCTGGGGTAGAAGGTGGGAGGCAC TGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCAC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGG AGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTG GGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGG CGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTG GGGTAGAAGG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11			chr12	TogoVar
TMEM163_chr2_134450759_134724000	134608612	G G	GACAGACC others(433): Show GACAGACCCCGAGAACTGTACTAGTGAAAAGGAGGACAGACCCCGAGAAC TGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACA GACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCAAGAACTGTGCTG GTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGAGGACAGACC CCGAGAACTTTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGA AAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAA CTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGAG GACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGT GCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAA	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0153 a0001c0002t0003g0153	1	222	0.0045	440	c.323 others(459): Show c.323-56522_323-56521insTTTCACCAGCACAGTTCTCGGGGTCT GTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAG TTCTCGGGGTCTGTCCTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCC TTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCT CGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCAC CAGCAAAGTTCTCGGGGTCTGTCCTCCTTTTCACCAGCACAGTTCTCGGG GTCTGTCCTTTTCACCAGCACAGTTCTTGGGGTCTGTCCTTTTCACCAGC ACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTC CTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTCCTTTTCACTAGTACAG TTCTCGGGGTCTGT	TMEM163	ENSG00000152128.13	transcript	ENST00000281924.6	protein_coding	2/7			chr2	TogoVar
TMPRSS2_chr21_41459305_41513158	41474314	A A	AGTGAGGA others(433): Show AGTGAGGAGGTGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGAGG TGAGGGGGTGAGTGAGGGGGTGAGGGGGTGAGTGAGGGGGTGAGGGGGTG AGGGAGTGAGTGAGGGGGTGGGTGAGGAGGTGAGGGGGTGAGTGAGGAGG TGAGGGGGTGAGTGAGGGGGTGAGGGGGTGAGGGAGTGAGTGAGGGGGTG GGTGAGGAGGTGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGGGG TGAGGGGGTGAGGGAGTGAGTGAGGGGGTGGGTGAGGAGGTGAGGGGGTG AGTGAGGAGGTGAGGGGGTGAGTGAGGGGGTGAGGGGGTGAGGGAGTGAG TGAGGGGGTGGGTGAGGAGGTGAGGGGGTGAGTGAGGAGGTGAGGGGGTG AGTGAGGGGGTGAGGGGGTGAGGGAGTGAGTGAGGGGGTGG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0137 a0002c0003t0006g0137	1	382	0.0026	440	c.728 others(455): Show c.728-819_728-818insCCACCCCCTCACTCACTCCCTCACCCCCTC ACCCCCTCACTCACCCCCTCACCTCCTCACTCACCCCCTCACCTCCTCAC CCACCCCCTCACTCACTCCCTCACCCCCTCACCCCCTCACTCACCCCCTC ACCTCCTCACTCACCCCCTCACCTCCTCACCCACCCCCTCACTCACTCCC TCACCCCCTCACCCCCTCACTCACCCCCTCACCTCCTCACTCACCCCCTC ACCTCCTCACCCACCCCCTCACTCACTCCCTCACCCCCTCACCCCCTCAC TCACCCCCTCACCTCCTCACTCACCCCCTCACCTCCTCACCCACCCCCTC ACTCACTCCCTCACCCCCTCACCCCCTCACTCACCCCCTCACCCCCTCAC TCACCCCCTCACCTCCTCACTCACCCCCTCACCTCCTCACTCACCCCCTC ACCTCCTCAC	TMPRSS2	ENSG00000184012.14	transcript	ENST00000332149.10	protein_coding	8/13			chr21	TogoVar
TNFRSF10D_chr8_23130588_23169027	23139071	T T	TAAAACCC others(433): Show TAAAACCCCTAAGATGAAACTACAATATTGAAATAGAAATGTATGTCTGG AGGAATGTTAAAAACATAGCAAATGCAATAAATTAGCAAACAGAATTACA AGGTTATCCAACTCATAATGGATACAAAATAGGCCGGGCGCGGTGGCTCA CGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGT CAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTA AAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCT TGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGA CAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02559.hp1 HG02895.hp2 others(2): Show HG01884.hp2 HG02559.hp1 HG02895.hp2 HG03486.hp1 NA20129.hp2	a0006 a0013 a0017 a0006 a0013 a0017	a0006c0006 a0013c0010 a0017c0015 a0006c0006 a0013c0010 a0017c0015	a0006c0006t0008 a0013c0010t0008 a0017c0015t0008 a0006c0006t0008 a0013c0010t0008 a0017c0015t0008	a0006c0006t0008g0059 a0006c0006t0008g0073 a0013c0010t0008g0026 others(1): Show a0006c0006t0008g0059 a0006c0006t0008g0073 a0013c0010t0008g0026 a0017c0015t0008g0086	5	444	0.0113	440	c.955 others(455): Show c.955-812_955-811insTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTC GGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCCTATTTTGTATCCATTATGAG TTGGATAACCTTGTAATTCTGTTTGCTAATTTATTGCATTTGCTATGTTT TTAACATTCCTCCAGACATACATTTCTATTTCAATATTGTAGTTTCATCT TAGGGGTTTT	TNFRSF10D	ENSG00000173530.6	transcript	ENST00000312584.4	protein_coding	7/8			chr8	TogoVar
TRPC4AP_chr20_34997404_35097807	35097452	T T	TATACACG others(433): Show TATACACGCGTGCGTATATACATATACACGCGTGCGTATATACATATACA CGCGTGCGTATATACATATACACGCGTGCGTATATACATATACACGCGTG CGTATATACATATACACGCGTGCGTATATACATATACACGCGTGCGTATA TACATATACACGCGTGCGTGTATATACATATACACGCGTGCGTGTATATA CATATACACGCGTGCGTGTATATACATATACACGCGTGCGTGTATATACA TATACACGCGTGCGTGTATATACATATACACGCGTGCGTGTATATACATA TACACGCGTGCGTGTATATACATATACACGCGTGCGTGTATATACATATA CACGCGTGCGTGTATATACATATACACGCGTGCGTGTATATACATATACA CGCGTGCGTGTATATACATATACACGCGTGCGTGTATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0272 a0001c0001t0003g0272	1	334	0.0030	440	c.-46 others(451): Show c.-4672_-4671insGTATATACACGCACGCGTGTATATGTATATACAC GCACGCGTGTATATGTATATACACGCACGCGTGTATATGTATATACACGC ACGCGTGTATATGTATATACACGCACGCGTGTATATGTATATACACGCAC GCGTGTATATGTATATACACGCACGCGTGTATATGTATATACACGCACGC GTGTATATGTATATACACGCACGCGTGTATATGTATATACACGCACGCGT GTATATGTATATACACGCACGCGTGTATATGTATATACACGCACGCGTGT ATATGTATATACGCACGCGTGTATATGTATATACGCACGCGTGTATATGT ATATACGCACGCGTGTATATGTATATACGCACGCGTGTATATGTATATAC GCACGCGTGTATATGTATATACGCACGCGTGTATATGTATATACGCACGC GTGTAT	TRPC4AP	ENSG00000100991.12	transcript	ENST00000252015.3	protein_coding		4646		chr20	TogoVar
TULP4_chr6_158307465_158516828	158449517	T T	TGAAAAAT others(433): Show TGAAAAATGCTGTGCTATTACTAAGAAAAATTCCTCTGCCTTGGGATCCT GTTGATCTGTGACCTTACCCCCAACCCTGTGCTCTCTGAAACATGTGCTG TGTCCACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTT AAACAGATGCTTGAAGGCAGCATGCTCGTTAAGAGTCATCACCAATCCCT AATCTCAAGTAATCAGGGACACAAACACTGCGGAAGGCCGCAGGGTCCTC TGCCTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTC CCTCCACTATTGTCCCATGACCCTGCCAAATCCCCCTCTGTGAGAAACAC CCAAGAATTATCAATAAAAAAATAAATTAAAAAAAAAAAAAATAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0064 a0001c0002t0001g0064	1	268	0.0037	440	c.724 others(455): Show c.724+360_724+361insCTAAGAAAAATTCCTCTGCCTTGGGATCCT GTTGATCTGTGACCTTACCCCCAACCCTGTGCTCTCTGAAACATGTGCTG TGTCCACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTT AAACAGATGCTTGAAGGCAGCATGCTCGTTAAGAGTCATCACCAATCCCT AATCTCAAGTAATCAGGGACACAAACACTGCGGAAGGCCGCAGGGTCCTC TGCCTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTC CCTCCACTATTGTCCCATGACCCTGCCAAATCCCCCTCTGTGAGAAACAC CCAAGAATTATCAATAAAAAAATAAATTAAAAAAAAAAAAAATAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAATGC TGTGCTATTA	TULP4	ENSG00000130338.13	transcript	ENST00000367097.8	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
UMAD1_chr7_7635752_7884223	7678957	T T	TATAAATA others(433): Show TATAAATATATTTATATATTTAGTTTATAAATATATATTTATATATTTAG TTTATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAG TTTATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAG TTTATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAG TTTATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATAT TTAGTTTATAAATACATATTTATATATTTAATTTATAGATAAATATATAT TTATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAG ATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATA TTTAATTTATAGATAAATATATTTATATATTTAATTTATAG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0035 a0001c0001t0007g0035	1	250	0.0040	440	c.82+ others(455): Show c.82+5509_82+5510insTATATTTATATATTTAGTTTATAAATATAT ATTTATATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATATAT ATTTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATATAT ATTTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATACAT ATTTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAAT ACATATTTATATATTTAGTTTATAAATACATATTTATATATTTAATTTAT AGATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATA TATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAA TATATATTTATATATTTAATTTATAGATAAATATATTTATATATTTAATT TATAGATAAA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
VCX_chrX_7838171_7849143	7844370	A A	AGGGAGGG others(433): Show AGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGG TGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGG AGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGG GAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGA AGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGG GAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGG GGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTG GTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAG AGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG01346.hp1 HG01255.hp1 HG01346.hp1	a0011 a0011	a0011c0030 a0011c0030	a0011c0030t0002 a0011c0030t0002	a0011c0030t0002g0002 a0011c0030t0002g0002	2	341	0.0059	440	c.35 others(449): Show c.354_*355insGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGG AGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGG GAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGA AGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGG GAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTG GTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGG AAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAG GGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGA GGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTG TGTG	VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding		228		chrX	TogoVar
VPS16_chr20_2835745_2871732	2842868	A A	AGATAGAT others(433): Show AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATC	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0323 a0001c0001t0001g0323	1	408	0.0025	440	c.53+ others(455): Show c.53+2076_53+2077insGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATAGATAGAT	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
ZC3H12B_chrX_65029826_65512887	65450477	G G	GTATATAT others(433): Show GTATATATGTATATATGTACATATGTATATATATGTATATATGTACATAT GTATATATATGTATATATGTATATATACATATGTATATATATGTACATAT GTATATATATACATGTATACATATGTATACATGTATATATATACATATGT ATACATGTATATATGTATATATATACATGTATACATATGTATATATGTAT ACATATGTATATATGTATATATGTATAAATATACATATGTATATATATGT ATATATGTATACATATGTATATATACATATGTATATATATGTATATATGT ATACATATGTATATATACATATGTATATATATGTATACATATGCATATAT ACATATGTATATATATATATGTATACATATGTATATATGCATATATATAC ATATGTATATATGCATATATATACATATGTGTATATATGTA	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18959.hp1 NA18952.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0078 a0001c0001t0001g0054 a0001c0001t0001g0078	2	165	0.0121	440	c.-15 others(461): Show c.-156-38164_-156-38163insATGTATATATGTACATATGTATAT ATATGTATATATGTACATATGTATATATATGTATATATGTATATATACAT ATGTATATATATGTACATATGTATATATATACATGTATACATATGTATAC ATGTATATATATACATATGTATACATGTATATATGTATATATATACATGT ATACATATGTATATATGTATACATATGTATATATGTATATATGTATAAAT ATACATATGTATATATATGTATATATGTATACATATGTATATATACATAT GTATATATATGTATATATGTATACATATGTATATATACATATGTATATAT ATGTATACATATGCATATATACATATGTATATATATATATGTATACATAT GTATATATGCATATATATACATATGTATATATGCATATATATACATATGT GTATATATGTATATAT	ZC3H12B	ENSG00000102053.13	transcript	ENST00000338957.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
ZNF16_chr8_144925358_144955880	144946533	G G	GGGGCCTG others(433): Show GGGGCCTGTGTCCTGCTGTGGGGCCTGTGTACTGCTGTGGGCCTGTACCG TGCTGTGGGGCCTGTACCCTGCTGTGGGCCTGTACCCTGCTGTGGGGCTG TGTCCTGCTGTGGGGCTGTGTCCTGCTGTGGGGCCTGTACCCTGCTGTGG GCCTGTACCCTGCTGTGGGCCTGTACCCTGCTGTGGGGCTGTGTCCTGCT GTGGGGCCTGTACCCTGCTGTGGGCCTGTGTCCTGCTGTGGGCCTGTGTC CTGCTGTGGGCCTGTACCGTGCTGTGGGTCTGTATCCTGCTGTTGGGCCT GTGTCCTGCTGTTGGGCCTGTGTCCTACTGTGGGCCTGTACCCTGCTGTG GGCCTGTGTCCTGCTGTGGGCCTGTGTCCTGCTGTGGGGCCTGTACCCTG CTGTGGGCCTGTGTCCTGCTGAGGGGCCTGTACCCTGCTGT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	404	0.0025	440	c.-9- others(453): Show c.-9-319_-9-318insACAGCAGGGTACAGGCCCCTCAGCAGGACACA GGCCCACAGCAGGGTACAGGCCCCACAGCAGGACACAGGCCCACAGCAGG ACACAGGCCCACAGCAGGGTACAGGCCCACAGTAGGACACAGGCCCAACA GCAGGACACAGGCCCAACAGCAGGATACAGACCCACAGCACGGTACAGGC CCACAGCAGGACACAGGCCCACAGCAGGACACAGGCCCACAGCAGGGTAC AGGCCCCACAGCAGGACACAGCCCCACAGCAGGGTACAGGCCCACAGCAG GGTACAGGCCCACAGCAGGGTACAGGCCCCACAGCAGGACACAGCCCCAC AGCAGGACACAGCCCCACAGCAGGGTACAGGCCCACAGCAGGGTACAGGC CCCACAGCACGGTACAGGCCCACAGCAGTACACAGGCCCCACAGCAGGAC ACAGGCCC	ZNF16	ENSG00000170631.15	transcript	ENST00000394909.7	protein_coding	1/2			chr8	TogoVar
ZNF365_chr10_62369369_62407450	62370978	C C	CATATGTG others(433): Show CATATGTGATATATATGGTATATATGATATATATCATATATATCATATGT GATATATATGATACATATGACATATATCATATGTGATACATATGACATAT ATCATATGTGATACATATGACATATATCATATGTGATACATATGACATAT ATCATATGTGATACATATGACATATATCATATGTGATATATGTCACATAT ATCATATGTGATATATGTCACATATATCACATGTGATATATATCATATAT ATCATATATATGATATATATCATATATATCATATATATGATATATATCAT ATATATCATATATATGATATATATCATATATCATATATATGATATATATC ACATATATATATCATATATATCACATATATATCATATATATCATATATAT ATCATATATATGATATATATCATATATATATCATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0012 a0002c0002t0001g0012	1	350	0.0029	440	c.-34 others(451): Show c.-3494_-3493insATATGTGATATATATGGTATATATGATATATATC ATATATATCATATGTGATATATATGATACATATGACATATATCATATGTG ATACATATGACATATATCATATGTGATACATATGACATATATCATATGTG ATACATATGACATATATCATATGTGATACATATGACATATATCATATGTG ATATATGTCACATATATCATATGTGATATATGTCACATATATCACATGTG ATATATATCATATATATCATATATATGATATATATCATATATATCATATA TATGATATATATCATATATATCATATATATGATATATATCATATATCATA TATATGATATATATCACATATATATATCATATATATCACATATATATCAT ATATATCATATATATATCATATATATGATATATATCATATATATATCATA TATATG	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3390		chr10	TogoVar

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