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
CCDC183_chr9_136791338_136812741	136803280	G G	GCCGGGGG others(739): Show GCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGAT CTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCC CCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGG CCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGG TCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTC TTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGC CCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCA GGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGAT GGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGC CCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0342 a0001c0001t0002g0342	1	398	0.0025	746	c.666 others(761): Show c.666+495_666+496insCGGGGGCCCTCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCC CCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGG GTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTC TTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGC CCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCA GGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGAT GGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGC CCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGG GGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAG CTCAGGGCCCAGGGCC	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
DCLK1_chr13_35763652_36136382	35958284	G G	GCTATAAC others(739): Show GCTATAACCACCACCACCACCACTATAACCATCACCACCATCACCACTAT AACCACCACCACCACCACCACCACCACTATAATCATTACCACTATAACCA CCACTACCACCACCACCACCATTATAACCATCACCACCACCACTATAACC ACCATCATCATCACCACCACTACCACTACTATAACCATTACCACCATCAC TACTATAACCACCACCACCACCACCACCACCACTATAATCATTACCACTA TAACCACCACTACCACCACTACCACTACTATAACCATCACCACCATCACT GCTATAATCACCACCACCACCACCACCACCACTATAATCATTACCACTAT AACCACCACTACCACCACCACCACTATGATAACCATCACCAACACCACTA TAACCACCAATGCCAAGAAGTGTTCATAGCAGGAGTCATAAACACAGGAC CAACCAGGGATAGGACCAACCAGGACCAACCAGGACCAACACCACCACCA CTACTACCACTACTATAACCATCACCACCATCACTGCTATAATCACCACC ACCACCACCATCACTATAATCATCACCACCATCACCACTATAACCACCAC CACCACCACCACCACCAGTTATAACCATCACCACCACCACTATAACCACC ATCATCATCACCACCACTACCACTACTATAACCATTACCACCATTACTAC TATAACCACCACCACCACCACCACTGTTATAACCATCACCACCACTA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0205 a0001c0001t0007g0205	1	230	0.0044	746	c.724 others(765): Show c.724-10828_724-10827insTAGTGGTGGTGATGGTTATAACAGTG GTGGTGGTGGTGGTGGTTATAGTAGTAATGGTGGTAATGGTTATAGTAGT GGTAGTGGTGGTGATGATGATGGTGGTTATAGTGGTGGTGGTGATGGTTA TAACTGGTGGTGGTGGTGGTGGTGGTGGTTATAGTGGTGATGGTGGTGAT GATTATAGTGATGGTGGTGGTGGTGGTGATTATAGCAGTGATGGTGGTGA TGGTTATAGTAGTGGTAGTAGTGGTGGTGGTGTTGGTCCTGGTTGGTCCT GGTTGGTCCTATCCCTGGTTGGTCCTGTGTTTATGACTCCTGCTATGAAC ACTTCTTGGCATTGGTGGTTATAGTGGTGTTGGTGATGGTTATCATAGTG GTGGTGGTGGTAGTGGTGGTTATAGTGGTAATGATTATAGTGGTGGTGGT GGTGGTGGTGGTGATTATAGCAGTGATGGTGGTGATGGTTATAGTAGTGG TAGTGGTGGTAGTGGTGGTTATAGTGGTAATGATTATAGTGGTGGTGGTG GTGGTGGTGGTGGTTATAGTAGTGATGGTGGTAATGGTTATAGTAGTGGT AGTGGTGGTGATGATGATGGTGGTTATAGTGGTGGTGGTGATGGTTATAA TGGTGGTGGTGGTGGTAGTGGTGGTTATAGTGGTAATGATTATAGTGGTG GTGGTGGTGGTGGTGGTGGTTATAGTGGTGATGGTGGTGATGGTTATAGT GGTGGTGGTGGTGGTTATAG	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16			chr13	TogoVar
DCLK1_chr13_35763652_36136382	35958284	G G	GCTATAAC others(739): Show GCTATAACCACCACCACCACCACTATAACCATCACCACCATCACCACTAT AACCACCACTACCACCACCACCATTATAACCATCACCACCACCACTATAA CCACCATCATCATCACCACCACTACCACTACTTTAACCATTACCACCATT ACTACTATAACCACCACCACCACCACTATAATCATTACCACTATAACCAC CACTACCACCACCACCACCATTATAACCATCACCACCACCACTATAACCA CCATCATCACCACCACCACTACCACTACTATAACCATTACCACCATCACT ACTATAACCACCACCACCACCACCACCACCACTATAATCATTACCACTAT AACCACCACTACCACCACCACCACTATGATAACCATCACCAACACCACTA TAACCACCAATGCCAAGAAGTGTTCATAGCAGGAGTCATAAACACAGGAC CAACCAGGGATAGGACCAACCAGGACCAACCAGGACCAACACCACCACCA CTACTACCACTACTATAACCATCACCACCATCACTGCTATAATCACCACC ACCACCACCATCACTATAATCATCACCACCATCACCACTATAACCACCAC CACCACCACCACCACCAGTTATAACCATCACCACCACCACTATAACCACC ATCATCATCACCACCACTACCACTACTATAACCATTACCACCATTACTAC TATAACCACCACCACCACCACCACTGTTATAACCATCACCACCACTA	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0053 a0001c0001t0003g0053	1	230	0.0044	746	c.724 others(765): Show c.724-10828_724-10827insTAGTGGTGGTGATGGTTATAACAGTG GTGGTGGTGGTGGTGGTTATAGTAGTAATGGTGGTAATGGTTATAGTAGT GGTAGTGGTGGTGATGATGATGGTGGTTATAGTGGTGGTGGTGATGGTTA TAACTGGTGGTGGTGGTGGTGGTGGTGGTTATAGTGGTGATGGTGGTGAT GATTATAGTGATGGTGGTGGTGGTGGTGATTATAGCAGTGATGGTGGTGA TGGTTATAGTAGTGGTAGTAGTGGTGGTGGTGTTGGTCCTGGTTGGTCCT GGTTGGTCCTATCCCTGGTTGGTCCTGTGTTTATGACTCCTGCTATGAAC ACTTCTTGGCATTGGTGGTTATAGTGGTGTTGGTGATGGTTATCATAGTG GTGGTGGTGGTAGTGGTGGTTATAGTGGTAATGATTATAGTGGTGGTGGT GGTGGTGGTGGTGGTTATAGTAGTGATGGTGGTAATGGTTATAGTAGTGG TAGTGGTGGTGGTGATGATGGTGGTTATAGTGGTGGTGGTGATGGTTATA ATGGTGGTGGTGGTGGTAGTGGTGGTTATAGTGGTAATGATTATAGTGGT GGTGGTGGTGGTTATAGTAGTAATGGTGGTAATGGTTAAAGTAGTGGTAG TGGTGGTGATGATGATGGTGGTTATAGTGGTGGTGGTGATGGTTATAATG GTGGTGGTGGTAGTGGTGGTTATAGTGGTGATGGTGGTGATGGTTATAGT GGTGGTGGTGGTGGTTATAG	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16			chr13	TogoVar
DCLK1_chr13_35763652_36136382	35958284	G G	GCTATAAC others(739): Show GCTATAACCACCACCACCATTATAACCATCACCACCACCACTATAACCAC CATCATCATCACCACCACTACCACTACTATAACCATTACCACCATTACTG CTATAACCACCACCACCACCACCACCACCACTATAATCATTACCACTATA ACCACCACTACCACCACCACCACCATTATAACCATCACCACCACCACTAT AACCACCATCATCATCACCACCACTACCACTACTATAACCATTACCACCA TTACTACTATAACCACCACCACCACCACCACCACCACTATAATCATTACC ACTATAACCACCACTACCACCACCACCACCATTATAACCATCACCACCAC CACTATAACCACCATCATCATCACCACCACTACCACTACTTTAACCATTA CCACCATTACTACTATAACCACCACCACCACCACCACCACTATAATCATT ACCACTATAACCACCACTACCACCACTACCACTATGATAACCATCACCAA CACCACTATAACCACCAATGCCAAGAAGTGTTCATAGCAGGAGTCATAAA CACAGGACCAACCAGGGATAGGACCAACCAGGACCAACCAGGACCAACAC CACCACCACTACTACCACTACTATAACCATCACCACAATCACTGCTATAA TCACCACCACCACCACCATCACTATAATCATCACCATCATCACCACTATA ACCACCACCACCACCACCACCACCAGTTATAACCATCACCACCACTA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0003 a0001c0009t0003	a0001c0009t0003g0162 a0001c0009t0003g0162	1	230	0.0044	746	c.724 others(765): Show c.724-10828_724-10827insTAGTGGTGGTGATGGTTATAACTGGT GGTGGTGGTGGTGGTGGTGGTTATAGTGGTGATGATGGTGATGATTATAG TGATGGTGGTGGTGGTGGTGATTATAGCAGTGATTGTGGTGATGGTTATA GTAGTGGTAGTAGTGGTGGTGGTGTTGGTCCTGGTTGGTCCTGGTTGGTC CTATCCCTGGTTGGTCCTGTGTTTATGACTCCTGCTATGAACACTTCTTG GCATTGGTGGTTATAGTGGTGTTGGTGATGGTTATCATAGTGGTAGTGGT GGTAGTGGTGGTTATAGTGGTAATGATTATAGTGGTGGTGGTGGTGGTGG TGGTTATAGTAGTAATGGTGGTAATGGTTAAAGTAGTGGTAGTGGTGGTG ATGATGATGGTGGTTATAGTGGTGGTGGTGATGGTTATAATGGTGGTGGT GGTGGTAGTGGTGGTTATAGTGGTAATGATTATAGTGGTGGTGGTGGTGG TGGTGGTGGTTATAGTAGTAATGGTGGTAATGGTTATAGTAGTGGTAGTG GTGGTGATGATGATGGTGGTTATAGTGGTGGTGGTGATGGTTATAATGGT GGTGGTGGTGGTAGTGGTGGTTATAGTGGTAATGATTATAGTGGTGGTGG TGGTGGTGGTGGTGGTTATAGCAGTAATGGTGGTAATGGTTATAGTAGTG GTAGTGGTGGTGATGATGATGGTGGTTATAGTGGTGGTGGTGATGGTTAT AATGGTGGTGGTGGTTATAG	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16			chr13	TogoVar
DGKD_chr2_233349494_233477098	233397118	G G	GGCCAGAG others(739): Show GGCCAGAGTGAGAGGACACCAGAGGGGAGCAGGGTGGCTGGCAGAGGCCA GAGTGAGAGGACACCAGAGGGGACCAGGGTGGCTGCGGGGGGGGCCAGAG CGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGGGGGGGCAGAGCGAGAG GACTCCAGAGGGGACCAGGGTGGCTGGGGGGGGCGCCAGAGTGAGAGGAC TCCAGAGGGGACCAGGGTGGCTGGCAGAGGCCAGAGTGAGAGGACACCAG AGGGGACCAGGGTGGCTGGCAGAGGCCAGAGTGAGAGGACACCAGAGGGG AGCAGGGTGGCTGGCAGAGGCCAGAGTGAGAGGACACCAGAGGGGACCAG GGTGGCTGCGGGGGGGGCCAGAGCGAGAGGACTCCAGAGGGGACCAGGGT GGCTGGGGGGGGGGGGTGCCAGAGTGAGAGGACACCAGAGGGGACCAGGG TGGCTGCGGGGGGGGCCAGAGTGAGAGGACTCCAGAGGGGACCAGGGTGG CTGGGGGGGGGGGTGCCAGAGTGAGAGGACTCCAGAGGGGACCAGGGTGG CTGGTAGAGGCCAGAGTGAGAGGACACCAGAGGGGACCAGGGTGGCTGGC AGAGGCCAGAGTGAGAGGACACCAGAGGGGAGCAGGGTGGCTGGCAGAGG CCAGAGTGAGAGGACACCAGAGGGGACCAGGGTGGCTGCGGGGGGGGCCA GAGCGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGGGGGGGGGGGT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	336	0.0030	746	c.348 others(763): Show c.348+6662_348+6663insGCAGGGTGGCTGGCAGAGGCCAGAGTGA GAGGACACCAGAGGGGACCAGGGTGGCTGCGGGGGGGGCCAGAGCGAGAG GACTCCAGAGGGGACCAGGGTGGCTGGGGGGGGCAGAGCGAGAGGACTCC AGAGGGGACCAGGGTGGCTGGGGGGGGCGCCAGAGTGAGAGGACTCCAGA GGGGACCAGGGTGGCTGGCAGAGGCCAGAGTGAGAGGACACCAGAGGGGA CCAGGGTGGCTGGCAGAGGCCAGAGTGAGAGGACACCAGAGGGGAGCAGG GTGGCTGGCAGAGGCCAGAGTGAGAGGACACCAGAGGGGACCAGGGTGGC TGCGGGGGGGGCCAGAGCGAGAGGACTCCAGAGGGGACCAGGGTGGCTGG GGGGGGGGGGTGCCAGAGTGAGAGGACACCAGAGGGGACCAGGGTGGCTG CGGGGGGGGCCAGAGTGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGGG GGGGGGGTGCCAGAGTGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGTA GAGGCCAGAGTGAGAGGACACCAGAGGGGACCAGGGTGGCTGGCAGAGGC CAGAGTGAGAGGACACCAGAGGGGAGCAGGGTGGCTGGCAGAGGCCAGAG TGAGAGGACACCAGAGGGGACCAGGGTGGCTGCGGGGGGGGCCAGAGCGA GAGGACTCCAGAGGGGACCAGGGTGGCTGGGGGGGGGGGGTGCCAGAGTG AGAGGACACCAGAGGGGA	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPEP1_chr16_89608642_89643433	89619397	C C	CCCCCCCG others(739): Show CCCCCCCGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGC AGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTC CCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTG CCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTG CAGCTCCATGCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTC CCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGC CCCCCCGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCA GCTCCCTGCCCCCCTGCTCCCCTCTCTGCAGCCCCCTGCCCCCCCGCTCC CCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCC CCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCA GCTCCATGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCC CTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCC CCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCA GCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCC CCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCTCCCTG	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	250	0.0040	746	c.-10 others(765): Show c.-107+5684_-107+5685insGCTCCCCTCCCTGCAGCTCCATGCCC CCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGC TCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCC CTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCC CCCCGCTCCCCTCCCTGCAGCTCCATGCCCCCCTGCTCCCCTCCCTGCAG CTCCATGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCC TCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCATGCCCC CCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCTCTGCAGCC CCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCT CCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCC CCGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCTC CCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTC CCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCC CTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCC CCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTC CCTGCAGCTCCCTGCCCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DYM_chr18_49031387_49465645	49440824	A A	AATATATG others(739): Show AATATATGACTATATATTATATATTTATATAATATATGACTATATATTAT ATATTTATATAATATATGACTATATATTATATATTTATATAATATATGAC TATATATTATATATTTATATAATATATGACTATATATTATATATTTATAT AATATATGACTATATATTATATATTTATATAATATATGACTATATATTAT ATATTTATATAATATATGACTATATATTATATATTTATATAATATATGAC TATATATTATATATTTATATAATATATGACTATATATTATATATTTATAT AATATATGACTATATATTATATATTTATATAATATATGACTATATATTAT ATATTTATATAATATATGACTATATATTATATATTTATATAATATATGAC TATATATTATATATTTATATAATATATGACTATATATTATATATTTATAT AATATATGACTATATATTATATATTTATATAATATATGACTATATATTAT ATATTTATATAATATATGACTATATATTATATATTTATATAATATATGAC TATATATTATATATTTATATAATATATGACTATATATTATATATTTATAT AATATATGACTATATATTATATATTTATATAATATATGACTATATATTAT ATATTTATATAATATATGACTATATATTATATATTTATATAATATATTTA TATAAATACATTATATTTTATATATTTATATAAATACATTATATTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0025 a0001c0003t0025	a0001c0003t0025g0278 a0001c0003t0025g0278	1	290	0.0035	746	c.-53 others(765): Show c.-53-10378_-53-10377insAAAATATAATGTATTTATATAAATAT ATAAAATATAATGTATTTATATAAATATATTATATAAATATATAATATAT AGTCATATATTATATAAATATATAATATATAGTCATATATTATATAAATA TATAATATATAGTCATATATTATATAAATATATAATATATAGTCATATAT TATATAAATATATAATATATAGTCATATATTATATAAATATATAATATAT AGTCATATATTATATAAATATATAATATATAGTCATATATTATATAAATA TATAATATATAGTCATATATTATATAAATATATAATATATAGTCATATAT TATATAAATATATAATATATAGTCATATATTATATAAATATATAATATAT AGTCATATATTATATAAATATATAATATATAGTCATATATTATATAAATA TATAATATATAGTCATATATTATATAAATATATAATATATAGTCATATAT TATATAAATATATAATATATAGTCATATATTATATAAATATATAATATAT AGTCATATATTATATAAATATATAATATATAGTCATATATTATATAAATA TATAATATATAGTCATATATTATATAAATATATAATATATAGTCATATAT TATATAAATATATAATATATAGTCATATATTATATAAATATATAATATAT AGTCATATATTATATAAATATATAATATATAGTCATATATTATATAAATA TATAATATATAGTCATATAT	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17			chr18	TogoVar
EEF1A2_chr20_63483014_63504083	63492159	T T	TGGATAGG others(739): Show TGGATAGGTGGATGGGTGGATGGACAGAAGGATGAATGGGTAGGGAGATG GATGGATGGATGGATGGGGAGGGATGGATGGATGGATGGATGGATGGGTG GATGGATAGAAGGATGGATGGGTGGGGAGGTGGGTGGGTGGGTGGATGGA TGGAGAGATGGATAGATGGATAGATGGATGGATGGATGGATGGATGGAGA GAAGGATGGATGGGTGGGGAGGTGGGTGGGTGGGTGGATGGGTGGATGGA TGGATGGGTGGGGAGGTGGGCGGGTGGATGGATGGATGGATGCAGAGGTG GGTGGATGGATGGATGGAGAGAAGGATGGATGGGTGGGGAGGTGGGTGGG TGGATGGATGGATGAGTGGGGAGGTGGGTGGGTGGATGGATGGATGGATG GATGCATGGATGGATGGATGGAGAGGTGGGTGGACGGATGGATGGATTGG GAGGTGGGTAGATGGGTGGATGGACAGAAGGATGGATGGGTGGGGAGGTG GGTGGGTGGGTGGATGGATGGATGGGGAGGTGGATGGATGGATGGTTAGA TGGGGAGGTGGGTGGATGGGTGGATGGACAGAAGGATGGATGGGTAGGGA GGTAGGTGAGTGGATGGATGGATGGGGAGATGGATGGATGGATAGAGAGA AGGATGGATGGGTGGGACAATGGATGGATGGATGGATAGAAGGATGGACG GGTGGGGAGATGGATGGATGGATGGATGGATGGATGGATGGACAGAA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	374	0.0027	746	c.772 others(761): Show c.772+977_772+978insTTCTGTCCATCCATCCATCCATCCATCCAT CCATCCATCTCCCCACCCGTCCATCCTTCTATCCATCCATCCATCCATTG TCCCACCCATCCATCCTTCTCTCTATCCATCCATCCATCTCCCCATCCAT CCATCCACTCACCTACCTCCCTACCCATCCATCCTTCTGTCCATCCACCC ATCCACCCACCTCCCCATCTAACCATCCATCCATCCACCTCCCCATCCAT CCATCCACCCACCCACCCACCTCCCCACCCATCCATCCTTCTGTCCATCC ACCCATCTACCCACCTCCCAATCCATCCATCCGTCCACCCACCTCTCCAT CCATCCATCCATGCATCCATCCATCCATCCATCCACCCACCCACCTCCCC ACTCATCCATCCATCCACCCACCCACCTCCCCACCCATCCATCCTTCTCT CCATCCATCCATCCACCCACCTCTGCATCCATCCATCCATCCACCCGCCC ACCTCCCCACCCATCCATCCATCCACCCATCCACCCACCCACCCACCTCC CCACCCATCCATCCTTCTCTCCATCCATCCATCCATCCATCCATCTATCC ATCTATCCATCTCTCCATCCATCCACCCACCCACCCACCTCCCCACCCAT CCATCCTTCTATCCATCCACCCATCCATCCATCCATCCATCCATCCCTCC CCATCCATCCATCCATCCATCTCCCTACCCATTCATCCTTCTGTCCATCC ACCCATCCACCTATCC	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding	5/7			chr20	TogoVar
EXD3_chr9_137301896_137428162	137355626	G G	GAGGAAGG others(739): Show GAGGAAGGGAGGAAGGAGGAAGGAGGAAGGAGGATGGAGGAAGGAGGAAG GAGGAAGGAGGAAGGAGGAAGGGAGGAAGGAGAAAGGAGGAAGGAGGACG GAGGAAGGAGGAAGGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAG GAGGAAGGAGAAAGGGAGGAAGGAGAAAGGAGGAAGGAGGACGAGGAAGG AGGATGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGA GAAAGGGAGGAAGGAGAAAGGAGGAAGGAGGACGAGGAAGGAGGATGGAG GAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAGAGGGAG GAAGGAGAAAGGAGGAAGGAGGACGGAGAAGGAGGATGGAGGAAGGAGGA AGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAGAGGAAGG AGGAAGGAGGAAGGAGGAAGGAGAAAGGGAGGAGGAGGAAGGAGGAAGGA GGAAGGAGAAAGGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGA GGAAGGAGGATGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAG GAAGGAGAAGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAAGGGAGGA AGGAGGAGGAGGAAGGAGAAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAG GAGGAAGGAGGAAGGGAGGAAGGAGGAAGGAGGAAGGAGGAAGAGAA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0029 a0029	a0029c0016 a0029c0016	a0029c0016t0001 a0029c0016t0001	a0029c0016t0001g0007 a0029c0016t0001g0007	1	82	0.0122	746	c.757 others(761): Show c.757+641_757+642insTTCTCTTCCTCCTTCCTCCTTCCTCCTTCC TCCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTTC TCCTTCCTCCTCCTCCTTCCTCCCTTTCTCCTTCCTCCTTCCTCCTTCCT CCTTCCTCTTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCT TCCTCCATCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTT CCTCCCTTTCTCCTTCCTCCTTCCTCCTTCCTCCTCCTCCCTTTCTCCTT CCTCCTTCCTCCTTCCTCCTTCCTCTTCTCCTTCCTCCTTCCTCCTTCCT CCTTCCTCCTTCCTCCTTCCTCCTTCCTCCATCCTCCTTCTCCGTCCTCC TTCCTCCTTTCTCCTTCCTCCCTCTCTCCTTCCTCCTTCCTCCTTCCTCC TTCCTCCTTCCTCCTTCCTCCATCCTCCTTCCTCGTCCTCCTTCCTCCTT TCTCCTTCCTCCCTTTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTT CCTCCTTCCTCCATCCTCCTTCCTCGTCCTCCTTCCTCCTTTCTCCTTCC TCCCTTTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCC TCCCTTCCTCCTTCCTCCGTCCTCCTTCCTCCTTTCTCCTTCCTCCCTTC CTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCATCCTCCTTCCTCCTTCC TCCTTCCTCCCTTCCT	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	8/21			chr9	TogoVar
EXOC2_chr6_480154_698139	519116	A A	AAACCACC others(739): Show AAACCACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGA AAACCACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGA GAACCACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGA GAACCAACACCCACCGAGCGCCTACACTCACCGTCCACACTCGGAGACGA GAACCACCACCCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAA CCACCACGCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAA CCACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAA CCACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAA CCACCACGCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAAAC CACCACGCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAAC CACCACGCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAAC CACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAAC CACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAAC CACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAAC CACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02622.hp2 HG01361.hp1 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0261 a0001c0001t0001g0021 a0001c0001t0001g0261	2	272	0.0074	746	c.238 others(767): Show c.2380+13352_2380+13353insCTCGTCTCCGAGTGTGGACGGTGA GTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGA GTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGA GTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGA GTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGA GTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGA GTGTCGGCGCTCGGTGCGTGGTGGTTTCGTCTCCGAGTGTGGACGGTGAG TGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAG TGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAG TGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAG TGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAG TGTCGGCGCTCGGGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAGTGT AGGCGCTCGGTGGGTGTTGGTTCTCGTCTCCGAGTGTGGACGGTGAGTGT CGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAGTGT CGGCGCTCGGTGGGTGGTGGTTTTCGTCTCCGAGTGTGGACGGTGAGTGT CGGCGCTCGGTGGGTGGTGGTT	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	519116	A A	AAACCACC others(739): Show AAACCACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGA GAACCACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGA GAACCACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGA GAACCAACACCCACCGAGCGCCTACACTCACCGTCCACACTCGGAGACGA GAACCACCACCCGAGCGCCTACACTCACCGTCCACACTCGGAGACGAGAA CCACCACGCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAA CCACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAA CCACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAA CCACCACGCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAAAC CACCACGCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAAC CACCACGCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAAC CACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAAC CACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAAC CACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAAC CACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAG	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0241 a0001c0001t0003g0241	1	272	0.0037	746	c.238 others(767): Show c.2380+13352_2380+13353insCTCGTCTCCGAGTGTGGACGGTGA GTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGA GTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGA GTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGA GTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGA GTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGA GTGTCGGCGCTCGGTGCGTGGTGGTTTCGTCTCCGAGTGTGGACGGTGAG TGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAG TGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAG TGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAG TGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAG TGTAGGCGCTCGGGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAGTGT AGGCGCTCGGTGGGTGTTGGTTCTCGTCTCCGAGTGTGGACGGTGAGTGT CGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAGTGT CGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAGTGT CGGCGCTCGGTGGGTGGTGGTT	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	520669	C C	CCACCACG others(739): Show CCACCACGCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAA CCACCACGCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAA CCACCACGCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAA CCACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAA CCACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAA CCACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAA CCACCACGCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAA CCACCACGCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAA CCACCACGCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAA CCACCACGCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAA CCACCACGCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAA CCACCACGCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAA CCACCACGCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAA CCACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAA CCACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGAGACGAG	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0022 a0001c0002t0004g0022	1	272	0.0037	746	c.238 others(767): Show c.2380+11799_2380+11800insCTCGTCTCGAGTGTGGACGGTGAG TGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAG TGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAG TGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAG TGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAG TGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAG TGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAG TGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAG TGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAG TGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAG TGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAG TGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAG TGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAG TGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAG TGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAG TGTCGGCGCTCGGTGCGTGGTG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
FBXL14_chr12_1560993_1599581	1574458	C C	CGTGTGGG others(739): Show CGTGTGGGTGGAGGCTGGGGTGAGGGGAGGCTGGGGTGAGAGGAGGCTGG TGGCAGCAGTGTGGGTGGAGGCTGGGGTGGGGGAGGCTGGTGGCAGCGGT GTGGATGGAGGCTGGGGTGAGAGGAGGCTGGTGGCAGCAGTGTGGGTGGA GGCTGGGGTGAGGGGAGGCTGGGGTGGGGGAGGCTGGTGGCAGCAGCGGT GTGGGTGGAGGCTGGGGTGGGGGAGGCTGGCGGCAGCAGCGGTGTGGGTG GAGGCTGGGGTGAGGGGAGGCTGGTGGCAGCGGTGTGGGTGGAGGCTGGG TGAGGGGAGGCTGGGGTGAGAGGAGGCTGGTGGCAGCAGTGTGGGTGGAG GCTGGGGTGGGGGAGGCTGGTGGCAGCGGTGTGGATGGAGGCTGGGGTGG GGGGAGGCTGGTGGCAGCGGTGTGGGTGGAGGCTGGGGTGGGGGGAGGCT GGTGGCAGCGGTGTGGGTGGAGGCTGGGGTGGGGGGAGGCTGGTGGCAGC GGTGTGGATGGAGGCTGGGGTAGGGGAGGCTGGCGGCAGCAGCGGTGTGG GCGGAGGCTGGGGTGAGGGGAGGCTGGTGGCAGCGGTGTGGATGGAGGCT GGGGTGGGGGAGGCTGGCGGCAGCAGCGGTGTGGGTGGAGGCTGGGTGAG GAGGCTGGTGGCAGCGGTGTGGATGGAGGCTGGGGTGAGGGGAGGCTGGT GGCAGCAGTGTGGATGGAGGCTGGGGTGGGGGAGGCTGGCGGCAGCG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0005 a0001c0007t0005	a0001c0007t0005g0385 a0001c0007t0005g0385	1	418	0.0024	746	c.119 others(765): Show c.1195-7649_1195-7648insCGCTGCCGCCAGCCTCCCCCACCCCA GCCTCCATCCACACTGCTGCCACCAGCCTCCCCTCACCCCAGCCTCCATC CACACCGCTGCCACCAGCCTCCTCACCCAGCCTCCACCCACACCGCTGCT GCCGCCAGCCTCCCCCACCCCAGCCTCCATCCACACCGCTGCCACCAGCC TCCCCTCACCCCAGCCTCCGCCCACACCGCTGCTGCCGCCAGCCTCCCCT ACCCCAGCCTCCATCCACACCGCTGCCACCAGCCTCCCCCCACCCCAGCC TCCACCCACACCGCTGCCACCAGCCTCCCCCCACCCCAGCCTCCACCCAC ACCGCTGCCACCAGCCTCCCCCCACCCCAGCCTCCATCCACACCGCTGCC ACCAGCCTCCCCCACCCCAGCCTCCACCCACACTGCTGCCACCAGCCTCC TCTCACCCCAGCCTCCCCTCACCCAGCCTCCACCCACACCGCTGCCACCA GCCTCCCCTCACCCCAGCCTCCACCCACACCGCTGCTGCCGCCAGCCTCC CCCACCCCAGCCTCCACCCACACCGCTGCTGCCACCAGCCTCCCCCACCC CAGCCTCCCCTCACCCCAGCCTCCACCCACACTGCTGCCACCAGCCTCCT CTCACCCCAGCCTCCATCCACACCGCTGCCACCAGCCTCCCCCACCCCAG CCTCCACCCACACTGCTGCCACCAGCCTCCTCTCACCCCAGCCTCCCCTC ACCCCAGCCTCCACCCACAC	FBXL14	ENSG00000171823.7	transcript	ENST00000339235.4	protein_coding	1/1			chr12	TogoVar
GAL3ST2_chr2_241771822_241809287	241806493	A A	ACCCTCCC others(739): Show ACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCC CCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCTG CAGGCCACCTTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTC CCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACTCTCCCTCCCCCCTC AACCCAGGGACCTCTGCAGGCCACTCTCCCTCCCCCCTCAACCCAGAGAC CTCCGCAGGCCACCTTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCC TCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCC CCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCTCAACCCA GGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCTGC AGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTC CCTCCCCCCTCAGCCCAGGGACGTCTGCAGGCCACCCTCCCTCCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAACCCAGG GACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAG GCCACCCTCCCTCCCCCCTCAGCCCAGGGACGTCTGCAGGCCACCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	314	0.0032	746	c.23 others(757): Show c.2327_*2328insCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCA GGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCA ACCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCTCAACCCAGGGACCT CCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCAC TCTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACTCTCCCTCCCC CCTCAACCCAGAGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAACCCAG GGACCTCCGCAGGCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCA GGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCC CTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAG CCCAGGAACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCT CTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACGTCTGCAGGCCAC CCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCT CCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCC CAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACGTCT GCAGGCCACCCT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2207		chr2	TogoVar
GLB1L3_chr11_134271379_134324564	134308301	A A	ATGTCCAC others(739): Show ATGTCCACCACCACTACCACCACCATCACCATCACCATCACCACCACCAC CACCACCATCACCACCAAATACCACCACCACCACCATGTCCACCACCACT ACCACCACCATCACCATCACCATCACCACTACCACCACCACCAGCACCAC CACCATCACCATCATCACCATCACCACCATCACCATCACCACCACCACCA CCACCACCAAATACCACCACCACCACCATGTCCACCACCACTACCACCAC CATCACCATCACCATCACCACCACCACCACCACCATCACCACCAAATACC ACCACCACCACCATGTCCACCACCACTACCACCACCATCACCATCACCAT CACCACCACCACCACCACCATCACCACCAAATACCACCACCACCACCATG TCCACCACCACTACCACCACCATCACCATCACCATCACCACTACCACCAC CACCACCACCATCACCACCATCACCACCACCACCATCACCACCATCACCA TCACCACCACCACCACCATCACCACCATCACCACCACCACCATCACCATC ACCATCACCACCACCACCACCATCACCACCACCACCACCACCACCACCAC CATCATCACCATCACCACCACCACCACCACCATCATCACCACCACCACCA TCACCACCATCACCACCACCACCACCACCATCATCACCATCACCACCATC ACCACCACCACCACCACCACCACCACCAAATACCACCACCACCATGT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0261 a0001c0005t0001g0261	1	422	0.0024	746	c.961 others(763): Show c.961+1093_961+1094insTGTCCACCACCACTACCACCACCATCAC CATCACCATCACCACCACCACCACCACCATCACCACCAAATACCACCACC ACCACCATGTCCACCACCACTACCACCACCATCACCATCACCATCACCAC TACCACCACCACCAGCACCACCACCATCACCATCATCACCATCACCACCA TCACCATCACCACCACCACCACCACCACCAAATACCACCACCACCACCAT GTCCACCACCACTACCACCACCATCACCATCACCATCACCACCACCACCA CCACCATCACCACCAAATACCACCACCACCACCATGTCCACCACCACTAC CACCACCATCACCATCACCATCACCACCACCACCACCACCATCACCACCA AATACCACCACCACCACCATGTCCACCACCACTACCACCACCATCACCAT CACCATCACCACTACCACCACCACCACCACCATCACCACCATCACCACCA CCACCATCACCACCATCACCATCACCACCACCACCACCATCACCACCATC ACCACCACCACCATCACCATCACCATCACCACCACCACCACCATCACCAC CACCACCACCACCACCACCACCATCATCACCATCACCACCACCACCACCA CCATCATCACCACCACCACCATCACCACCATCACCACCACCACCACCACC ATCATCACCATCACCACCATCACCACCACCACCACCACCACCACCACCAA ATACCACCACCACCATGT	GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	10/19			chr11	TogoVar
GPIHBP1_chr8_143208218_143222170	143218345	C C	CCCAACAC others(739): Show CCCAACACCACCCCCACACCACCCCCAACACCACCCCAACACCACCCCCA ACACCACCCCCAACACCACCCCCAACACCACCCCAACACCACCCCCAACA CCACCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCCACACCA CCCCCAACACCACCCCCACACCACCCCCAACACCACCCCAACACCACCCC CAACACCACCCCCAACACCACCCCAACACCACCCCCAACACCACCCCCAA CACCATCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCCAACA CCACCCCCAACACCACCCCCACCACCCCCACACCATCCCCAACACCACCC CAACACCACCCCCAACACCACCCCAACACCACCCCCACACCACCCCCAAC ACCATCCCCCACACCACCCCCAACACCACCCCAACACCACCCCCACACCA CCCCCACACCACCCCCACACCACCCCCAACACCATCCCCCACACCACCCC CAACACCACCCCCAACACCATCCCCAACACCCCCACACCGCCCCAACACC ACCCCCAACACCACCCCCACCACCCCCACACCACCCCCACACCACCCCCA ACACCACCCCCAACACCACCCCCACACCACCCCCACACCACCCCCAACAC CAGCCCCAACACCACCCCAATACCTCCCCAACACCACCCCCAACACCACC CAACACCATGCCCCACACCACCCCCAACACCACCCCCAACACCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	106	0.0094	746	c.28 others(757): Show c.2827_*2828insCCAACACCACCCCCACACCACCCCCAACACCACC CCAACACCACCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCA ACACCACCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCCAAC ACCACCCCCACACCACCCCCAACACCACCCCCACACCACCCCCAACACCA CCCCAACACCACCCCCAACACCACCCCCAACACCACCCCAACACCACCCC CAACACCACCCCCAACACCATCCCCAACACCACCCCCAACACCACCCCCA ACACCACCCCCAACACCACCCCCAACACCACCCCCACCACCCCCACACCA TCCCCAACACCACCCCAACACCACCCCCAACACCACCCCAACACCACCCC CACACCACCCCCAACACCATCCCCCACACCACCCCCAACACCACCCCAAC ACCACCCCCACACCACCCCCACACCACCCCCACACCACCCCCAACACCAT CCCCCACACCACCCCCAACACCACCCCCAACACCATCCCCAACACCCCCA CACCGCCCCAACACCACCCCCAACACCACCCCCACCACCCCCACACCACC CCCACACCACCCCCAACACCACCCCCAACACCACCCCCACACCACCCCCA CACCACCCCCAACACCAGCCCCAACACCACCCCAATACCTCCCCAACACC ACCCCCAACACCACCCAACACCATGCCCCACACCACCCCCAACACCACCC CCAACACCACCT	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding		1176		chr8	TogoVar
GPR173_chrX_53043789_53085615	53073906	T T	TATATAAA others(739): Show TATATAAATATATATATTTATATTTATTTATATATATAAATATATATATT TATATTTATTTATATATATAAATATATATATTTATATTTATATATATATA TAAATATATATATTTATATATATATATAAATATATATATTTATATTTATT TATATATATAAATATATATATTTATATTTATTTATATATATATAAATATA TATATTTATATTTATATTTATATATTTATATTTATATATATAAATATATA TATTTATATTTATTTATATATATAAATATATATATTAATATATATTTATA TATATAAATATATATATTTATATATAAATATATATTTATGTATATTTATA TATAAATATATATATTTATATATATAAATATATATATTTATATATAAATA TATATATTTATATATAAATATATATATTTATATATAAATATATATATTTA TATATAAATATATATATAAATATATATATTTATATATAAATATATATATT TATATATATATTTATATATAAATATATATATTTATATATAAATATATATA TTTATATATATAAATATATATATTTATATATATAAATATATATATATTTA TATTTACAAATATATATATTTATATATATATTTATATTTATATATATTTA TATTTATATATATATATATAAATATATATTTATGTATATTTATATATAAA TATAAATATATATTTATATATAAATATAAATATATATTTATATATAA	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	208	0.0048	746	c.-97 others(763): Show c.-97-2605_-97-2604insATTTATATTTATTTATATATATAAATAT ATATATTTATATTTATTTATATATATAAATATATATATTTATATTTATAT ATATATATAAATATATATATTTATATATATATATAAATATATATATTTAT ATTTATTTATATATATAAATATATATATTTATATTTATTTATATATATAT AAATATATATATTTATATTTATATTTATATATTTATATTTATATATATAA ATATATATATTTATATTTATTTATATATATAAATATATATATTAATATAT ATTTATATATATAAATATATATATTTATATATAAATATATATTTATGTAT ATTTATATATAAATATATATATTTATATATATAAATATATATATTTATAT ATAAATATATATATTTATATATAAATATATATATTTATATATAAATATAT ATATTTATATATAAATATATATATAAATATATATATTTATATATAAATAT ATATATTTATATATATATTTATATATAAATATATATATTTATATATAAAT ATATATATTTATATATATAAATATATATATTTATATATATAAATATATAT ATATTTATATTTACAAATATATATATTTATATATATATTTATATTTATAT ATATTTATATTTATATATATATATATAAATATATATTTATGTATATTTAT ATATAAATATAAATATATATTTATATATAAATATAAATATATATTTATAT ATAAATATAAATATATAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53073906	T T	TATATAAA others(739): Show TATATAAATATATATATTTATATTTATTTATATATATAAATATATATATT TATATTTATTTATATATATGAATATATATATTTATATTTATATATATATA TAAATATATATATTTATATATATATATAAATATATATATTTATATTTATT TATATATATAAATATATATATTTATATTTATTTATATATATATAAATATA TATATTTATATTTATATTTATATATTTATATTTATATATATAAATATATA TATTTATATTTATTTATATATATAAATATATATATTAATATATATTTATA TATATAAATATATATATTTATATATATAAATATATATATTTATATATAAA TATACATAAATATATATTTATGTATATTTATATATAAATATATATATTTA TATATATAAATATATATATTTATATATAAATATATATATTTATATATAAA TATATATATAAATATATATATTTATATATAAATATATATATAAATATATA TATTTATATATAAATATATATATTTATATATATATTTATATATAAATATA TATATTTATATATAAATATATATATTTATATATATAAATATATATATTTA TATATATAAATATATATATATTTATATTTACAAATATATATATTTATATA TATATTTATATTTATATATATTTATATTTATATATATATATATAAATATA TATTTATGTATATTTATATATAAATATAAATATATATTTATATATAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0190 a0001c0001t0024g0190	1	208	0.0048	746	c.-97 others(763): Show c.-97-2605_-97-2604insATTTATATTTATTTATATATATAAATAT ATATATTTATATTTATTTATATATATGAATATATATATTTATATTTATAT ATATATATAAATATATATATTTATATATATATATAAATATATATATTTAT ATTTATTTATATATATAAATATATATATTTATATTTATTTATATATATAT AAATATATATATTTATATTTATATTTATATATTTATATTTATATATATAA ATATATATATTTATATTTATTTATATATATAAATATATATATTAATATAT ATTTATATATATAAATATATATATTTATATATATAAATATATATATTTAT ATATAAATATACATAAATATATATTTATGTATATTTATATATAAATATAT ATATTTATATATATAAATATATATATTTATATATAAATATATATATTTAT ATATAAATATATATATAAATATATATATTTATATATAAATATATATATAA ATATATATATTTATATATAAATATATATATTTATATATATATTTATATAT AAATATATATATTTATATATAAATATATATATTTATATATATAAATATAT ATATTTATATATATAAATATATATATATTTATATTTACAAATATATATAT TTATATATATATTTATATTTATATATATTTATATTTATATATATATATAT AAATATATATTTATGTATATTTATATATAAATATAAATATATATTTATAT ATAAATATAAATATATAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
HAUS2_chr15_42543838_42574994	42557401	T T	TATATATA others(739): Show TATATATAATATATATTTTATATATAATATATATTTTATATATATTATAT ATTTTATATATAATATATATTTTATATATATTATATATTTTATATAATAT ATATATATTATATATAATATATATTATATATAATATATATATTATATATA AAATATATAATATATATCTTATATATATCATATATTTTATATATATCATA TATTTTATATATAATATATATTATATATACATTATATAATATATATTATA TAATATATATTATATATTATATAATATATATTATATATTATACGTAATAT ATAATGTATATTATATATAATATACATTGTATATAATGTATATTATATAT AATATACATTGTATATAATGTATATTATATATAATATACATTGTATATAA TGTATATTATATATAATATACATTATATATAATGTATATTACATATAATA TACATTATATATAATGTATATTACATATAATATACATTATATATAATGTG TATATTACATGTAATATACATTATATATAATGTATATATTACATGTAATA TATACATTATATATAATGTATATATTATATGTAATATATACATTATATAT AATGTGTATATTATATGTAATATATACATTATATATAATGTATATTATAT GTAATATATACATTATATATAATGTATATTATATGTAATATATACATTAT ATAATGTATATTATGTAATATATACATTATATAATGTATATTATGTA	intron_variant intron_variant	MODIFIER	HG02622.hp2 NA18522.hp1 HG02622.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0080 a0001c0001t0010g0081 a0001c0001t0010g0080 a0001c0001t0010g0081	2	350	0.0057	746	c.94- others(759): Show c.94-790_94-789insATATATATTTTATATATAATATATATTTTATA TATATTATATATTTTATATATAATATATATTTTATATATATTATATATTT TATATAATATATATATATTATATATAATATATATTATATATAATATATAT ATTATATATAAAATATATAATATATATCTTATATATATCATATATTTTAT ATATATCATATATTTTATATATAATATATATTATATATACATTATATAAT ATATATTATATAATATATATTATATATTATATAATATATATTATATATTA TACGTAATATATAATGTATATTATATATAATATACATTGTATATAATGTA TATTATATATAATATACATTGTATATAATGTATATTATATATAATATACA TTGTATATAATGTATATTATATATAATATACATTATATATAATGTATATT ACATATAATATACATTATATATAATGTATATTACATATAATATACATTAT ATATAATGTGTATATTACATGTAATATACATTATATATAATGTATATATT ACATGTAATATATACATTATATATAATGTATATATTATATGTAATATATA CATTATATATAATGTGTATATTATATGTAATATATACATTATATATAATG TATATTATATGTAATATATACATTATATATAATGTATATTATATGTAATA TATACATTATATAATGTATATTATGTAATATATACATTATATAATGTATA TTATGTAATATATA	HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
HNF4A_chr20_44350699_44437845	44404776	T T	TGTGTTTG others(739): Show TGTGTTTGTTGATGTGTGTGTATGTGTGCGTGTGTGTGAATTGTGTGTGT GTATGTGTGGACTGTGCGTGTGTTCATGTTCGGACTGTGTGTGTGTATGT AAGTGTGTGTGCGTGTGTGTGACTGTGTGTCTTTGTGTGCCTGTGTGGAC TGCTGTGTGTGCGTGGACTGTGTGGTGTGGGTGTGTGCGTGTGTGTGGAC TGTGTGGTGTGGGTGTGTGCGTGTGTGTGTGACCGTGTGGAGTGTGTCTG TGTGCATGTGTGGGCTGTGTGGTGCGTGTGTGCTTATGTTTGGCGTGTGT GTGTGTGTGTGTGTGTGGACTGTGTGGTCTGTGTGTGTGTGCGTGTGTGT GGACTCTGTGGTGTGTGCATGTGTGCATGTATGTGCGTGTGTGTGACTGT GTGGTGTGTGTCTGTGTGCACGTGTGGGCTTATATTTGGTGTGTGTGCAT GTGTGGACCGTGTGGTGTGTGTGTGTGCGTGTGTGGACTGTAGTGTGTGT GCACGTGTGTGTGTGCTTGTGTGTGGACTGTGTGTGTGTGGACTGTAGTG TGTGTGCGTGACTGTGGTGTGTGTGCATGACTGTGTGGTGTGTGTGTGCA TGTGTGTGGATTGTGTGGTGTGTGTGGACTGTGGGTGTGTGGTGCGTGTG TGTGCTTGTGTGTGGTGTGTGTGCGTGTGTGTGGACTGTGTGGTGCGTGT GTGTGCTTGTGTGTGGACTGTGGATTGTGTGGTGTGTGTGTGCGCAC	intron_variant intron_variant	MODIFIER	HG01256.hp1 NA20905.hp2 HG01256.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0084 a0001c0001t0085 a0001c0001t0084 a0001c0001t0085	a0001c0001t0084g0099 a0001c0001t0085g0183 a0001c0001t0084g0099 a0001c0001t0085g0183	2	322	0.0062	746	c.50- others(761): Show c.50-1278_50-1277insTTGTTGATGTGTGTGTATGTGTGCGTGTGT GTGAATTGTGTGTGTGTATGTGTGGACTGTGCGTGTGTTCATGTTCGGAC TGTGTGTGTGTATGTAAGTGTGTGTGCGTGTGTGTGACTGTGTGTCTTTG TGTGCCTGTGTGGACTGCTGTGTGTGCGTGGACTGTGTGGTGTGGGTGTG TGCGTGTGTGTGGACTGTGTGGTGTGGGTGTGTGCGTGTGTGTGTGACCG TGTGGAGTGTGTCTGTGTGCATGTGTGGGCTGTGTGGTGCGTGTGTGCTT ATGTTTGGCGTGTGTGTGTGTGTGTGTGTGTGGACTGTGTGGTCTGTGTG TGTGTGCGTGTGTGTGGACTCTGTGGTGTGTGCATGTGTGCATGTATGTG CGTGTGTGTGACTGTGTGGTGTGTGTCTGTGTGCACGTGTGGGCTTATAT TTGGTGTGTGTGCATGTGTGGACCGTGTGGTGTGTGTGTGTGCGTGTGTG GACTGTAGTGTGTGTGCACGTGTGTGTGTGCTTGTGTGTGGACTGTGTGT GTGTGGACTGTAGTGTGTGTGCGTGACTGTGGTGTGTGTGCATGACTGTG TGGTGTGTGTGTGCATGTGTGTGGATTGTGTGGTGTGTGTGGACTGTGGG TGTGTGGTGCGTGTGTGTGCTTGTGTGTGGTGTGTGTGCGTGTGTGTGGA CTGTGTGGTGCGTGTGTGTGCTTGTGTGTGGACTGTGGATTGTGTGGTGT GTGTGTGCGCACGTGT	HNF4A	ENSG00000101076.20	transcript	ENST00000316673.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr20	TogoVar
IFFO2_chr1_18899280_18961676	18925804	T T	TTGTTGGA others(739): Show TTGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATT GGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGAT GGATGGATGGATGGATTGGTTGGTTGGATGGATGGATGGATGGATGGATG GATGGATGGATGGATTGGTTGGATGGATGGTTGGATGGATGGATGGATGG ATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATTGGTTGGA TGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGTTGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGGATGGTTGGATGGATGGATGGA TGGATGGAGGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGGAT GGATGGATGGATGGTTGGATGGATGGATGGATGGATTGGTTGGATGGATG GATGGATGGATGGATGGATGGATGGAGGATGGATTGGTTGGTTGGTTGGA TGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGAT GGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGA	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0269 a0001c0001t0003g0269	1	376	0.0027	746	c.666 others(763): Show c.666-4684_666-4683insTCCATCCATCCATCCATCCAACCATCCA TCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCAT CCATCCATCCATCCATCCATCCAACCAACCAACCAATCCATCCTCCATCC ATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCA TCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAAC CAATCCATCCCTCCATCCATCCATCCATCCATCCAACCATCCCATCCATC CATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCAT CCAACCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATC CAACCATCCATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCA ACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAA CCAATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATC CATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCAACA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
INPP5A_chr10_132532787_132788480	132775097	G G	GGGGCAGG others(739): Show GGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGAGAGGAGGG GCAGGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGG AGGAGAGAGGGGCAGGGAGGAGGGACAGGGAGGAGAGAGGGGCAGGGGGG AGGGGCAGGGAGGAGAGACAGGCAGGGAGGAGGGGCAGGGAGGAGAGATG GGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGC AGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGG GAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAG GAGGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGAG GGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGG CAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAG GGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGA GGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAAA CGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAG GGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGA GGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAGAGGGGCAGGGA	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	204	0.0049	746	c.978 others(763): Show c.978-2574_978-2573insGGGCAGGGAGGAGAGAGGGGCAGGGAGG AGAGAGGGGCAGAGAGGAGGGGCAGGGAGAGAGGGGCAGGGAGGAGAGAG GGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGACAGG GAGGAGAGAGGGGCAGGGGGGAGGGGCAGGGAGGAGAGACAGGCAGGGAG GAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAG GGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGG CAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAG GGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAAACGGGCAGGGA GGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGA GGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGG GCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCA GGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGG AGGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGG ACGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCA GGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAAACGGGCAGGG AGGAGAGAGGGGCAGGGA	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15			chr10	TogoVar
IRF4_chr6_386752_416443	396534	C C	CCCCCCGT others(739): Show CCCCCCGTCTCGATGCCAGTGCTTCTTATCTCAGCCTCTTCTGCACTCCT TTACCCCCGTCTCGATGCCAGTGCTTCTTATCTCAGCCTCTCCTGCACTC CTTTACCCCCGTCTCAATGCCAGTGCTTCTTATCTCAGCCTCTCCGTCTC AATGCCAGTGCTTCTTATCTCAGCCTCTCCTGCACTCCTTTACCCCCGTC TCAATGCCAGTGCTTCTTATCTCAGCCTCTCCTGCACTCCTTTACCCCCG TCTCAATGCCAGTGCTTCCTATCTCAGCCTCTCCTGCACTCCTTTACCCC CGTCTCGATGCCAGTGCTTCCTATCTCAGCCTCTCCTGCACTCCTTTAAC CCCGTCTCGATGCCAGTGCTTCTTATCTCAGCCTCTCCTGCACTCCTTTA CCCCCGTCTCAATGCCAGTGCTTCCTATCTCAGCCTCTCCTGCACTCCTT TACCCCCGTCTCAATGCCAGTGCTTCCTATCTCAGCCTCTCCTGCACTCC TTTACCCCCGTCTCGATGCCAGTGCTTCTTATCTCAGCCTCTCCTGCACT CCTTTACCCCCGTCTCGATGCCAGTGCTTCTTATCTCAGCCTCCCCGTCT CAATGCCAGTGCTTCTTATCTCAGCCTCTCCTGCACTCCTTTAACCCCGT CTCGATGCCAGTGCTTCTTATCTCAGCCTCTCCTGCACTCCTTTACCCCC GTCTCAATGCCAGTGCTTCCTATCTCAGCCTCTCCTGCACTCCTTTA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0228 a0001c0001t0003g0228	1	460	0.0022	746	c.493 others(761): Show c.493-564_493-563insGATGCCAGTGCTTCTTATCTCAGCCTCTTC TGCACTCCTTTACCCCCGTCTCGATGCCAGTGCTTCTTATCTCAGCCTCT CCTGCACTCCTTTACCCCCGTCTCAATGCCAGTGCTTCTTATCTCAGCCT CTCCGTCTCAATGCCAGTGCTTCTTATCTCAGCCTCTCCTGCACTCCTTT ACCCCCGTCTCAATGCCAGTGCTTCTTATCTCAGCCTCTCCTGCACTCCT TTACCCCCGTCTCAATGCCAGTGCTTCCTATCTCAGCCTCTCCTGCACTC CTTTACCCCCGTCTCGATGCCAGTGCTTCCTATCTCAGCCTCTCCTGCAC TCCTTTAACCCCGTCTCGATGCCAGTGCTTCTTATCTCAGCCTCTCCTGC ACTCCTTTACCCCCGTCTCAATGCCAGTGCTTCCTATCTCAGCCTCTCCT GCACTCCTTTACCCCCGTCTCAATGCCAGTGCTTCCTATCTCAGCCTCTC CTGCACTCCTTTACCCCCGTCTCGATGCCAGTGCTTCTTATCTCAGCCTC TCCTGCACTCCTTTACCCCCGTCTCGATGCCAGTGCTTCTTATCTCAGCC TCCCCGTCTCAATGCCAGTGCTTCTTATCTCAGCCTCTCCTGCACTCCTT TAACCCCGTCTCGATGCCAGTGCTTCTTATCTCAGCCTCTCCTGCACTCC TTTACCCCCGTCTCAATGCCAGTGCTTCCTATCTCAGCCTCTCCTGCACT CCTTTACCCCCGTCTC	IRF4	ENSG00000137265.16	transcript	ENST00000380956.9	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
KIAA0930_chr22_45187244_45245894	45229040	C C	CCCCCCAA others(739): Show CCCCCCAACCACCACTCACCTGAGAGATCCCTCTCCACCCCCGCCATCAC CACTCACCTGAAAGATCCCTCTCCACATCCCCACCACCACTCACCCGAAA GATCCCTCTCCACCCCCGCCACCACCACTCACCCGAAAGATCCCTCTCCA CCCCCCAACCACCAAACACTCACCCGAGAGATCCCTCTCCACCCCCGCCA CCACCACTCACCCGAAAGATCCCTCTCCACCCCCCCCCACCAAACACTCA CCCGAAAGATCCCTCTCCACCCCCCAACCACCAAACACTCACCCGAGAGA TCCCTCTCCACCCCCGCCACCACCACTCACCCGAAAGATCCCTCTCCACC CCCCCCCACCAAACACTCACCCGAAAGATCCCTCTCCACCCCCCAACCAC CAAACACTCACCCGAGAGATCCCTCTCCACCCCCCAACCACCAAACACTC ACCTGAGAGATCCCTCTCCACCCCCGCCACCACCACTCACCCTAAAGATC CCTCCCCATCCCCCCCCCACCAAACACTCACCCGAAAGATCCCTCTCCAC CCCCCAACCACCAAACACTCACCCGAGAGATCCCTCTCCACCCCCGCCAC CACCACTCACCCGAAAGATCCCTCTCCACCCCCCCCCACCAAACACTCAC CCGAAAGATCCCTCTCCACCCCCCAACCACCAAACACTCACCCGAGAGAT CCCTCTCCACCCCCGCCACCACCACTCACCCGAAAGATCCCTCTCCA	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0336 a0001c0001t0001g0336	1	398	0.0025	746	c.64+ others(763): Show c.64+11599_64+11600insTGGAGAGGGATCTTTCGGGTGAGTGGTG GTGGCGGGGGTGGAGAGGGATCTCTCGGGTGAGTGTTTGGTGGTTGGGGG GTGGAGAGGGATCTTTCGGGTGAGTGTTTGGTGGGGGGGGGTGGAGAGGG ATCTTTCGGGTGAGTGGTGGTGGCGGGGGTGGAGAGGGATCTCTCGGGTG AGTGTTTGGTGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGTTTGG TGGGGGGGGGATGGGGAGGGATCTTTAGGGTGAGTGGTGGTGGCGGGGGT GGAGAGGGATCTCTCAGGTGAGTGTTTGGTGGTTGGGGGGTGGAGAGGGA TCTCTCGGGTGAGTGTTTGGTGGTTGGGGGGTGGAGAGGGATCTTTCGGG TGAGTGTTTGGTGGGGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGG TGGCGGGGGTGGAGAGGGATCTCTCGGGTGAGTGTTTGGTGGTTGGGGGG TGGAGAGGGATCTTTCGGGTGAGTGTTTGGTGGGGGGGGGTGGAGAGGGA TCTTTCGGGTGAGTGGTGGTGGCGGGGGTGGAGAGGGATCTCTCGGGTGA GTGTTTGGTGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGTG GCGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGTGGGGATGTGGAGA GGGATCTTTCAGGTGAGTGGTGATGGCGGGGGTGGAGAGGGATCTCTCAG GTGAGTGGTGGTTGGGGG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KRT82_chr12_52388931_52411335	52409027	C C	CCTCTCCC others(739): Show CCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCT CCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTC CCTCTCCTTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCT CCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTC CCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCT CCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTC TCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCACTCTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0004	1	370	0.0027	746	c.-27 others(757): Show c.-2751_-2750insAGGGAGAGTGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAG AGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAG GGAGAAGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGAGGGAGAGGAGAGGAGGGAGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG AGGGAGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAG AGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAG GGAGAGGGAGAG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2693		chr12	TogoVar
LAMA5_chr20_62304065_62372312	62349826	T T	TGGCGGTG others(739): Show TGGCGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTG GGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGAT GACGGTGGGGGTGGGGGTGATGACGGTGATGGTAGAGGTGATGATGGTGG GGGTGGGGGTGGGGGTGGGGGTGAGGGTGATGATGGTGGGGGTGATGATG GTGATGGTGGGGGTGATGATGGTGAGGGTGATGATGGTGGGGGTGATGGT GGGGGTGGGGGTGGGGGTAATGACGGTGGGGTGGGGGTAATGACGGTGGG GGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGATGGTGGGGG TGATGACGATGATGGCGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATG ACGATGATGGTGGGGGTGATGACGGTGATGGCGGTGGGGGTGATGACGGT GGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGG GGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATG ACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGG GGTGGGGGTGATGACGGTGATGGTAGAGGTGATGATGGTGGGGGTGATGG TGGGGGTGGGGGTGGGGGTGGGGGTGATGATGGTGATGGTGGGGGTGATG ATGGTGAGGGTGATGATGGTGGGGGTGATGGTGGGGGTGGGGGTGGG	intron_variant intron_variant	MODIFIER	HG01256.hp1 NA18612.hp1 NA18983.hp2 HG01256.hp1 NA18612.hp1 NA18983.hp2	a0002 a0045 a0105 a0002 a0045 a0105	a0002c0003 a0045c0110 a0105c0111 a0002c0003 a0045c0110 a0105c0111	a0002c0003t0001 a0045c0110t0001 a0105c0111t0001 a0002c0003t0001 a0045c0110t0001 a0105c0111t0001	a0002c0003t0001g0146 a0045c0110t0001g0132 a0105c0111t0001g0131 a0002c0003t0001g0146 a0045c0110t0001g0132 a0105c0111t0001g0131	3	186	0.0161	746	c.956 others(763): Show c.956+1877_956+1878insCCCACCCCCACCCCCACCATCACCCCCA CCATCATCACCCTCACCATCATCACCCCCACCATCACCATCATCACCCCC ACCCCCACCCCCACCCCCACCATCACCCCCACCATCATCACCTCTACCAT CACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCA TCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCC ACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCAC CGTCATCACCCCCACCCCCACCGTCATCACCCCCACCGCCATCACCGTCA TCACCCCCACCATCATCGTCATCACCCCCACCCCCACCGTCATCACCCCC ACCGCCATCATCGTCATCACCCCCACCATCACCGTCATCACCCCCACCCC CACCGTCATCACCCCCACCCCCACCGTCATTACCCCCACCCCACCGTCAT TACCCCCACCCCCACCCCCACCATCACCCCCACCATCATCACCCTCACCA TCATCACCCCCACCATCACCATCATCACCCCCACCATCATCACCCTCACC CCCACCCCCACCCCCACCCCCACCATCATCACCTCTACCATCACCGTCAT CACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCA CCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACC GTCATCACCCCCACCGCC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	6/79			chr20	TogoVar
LAMA5_chr20_62304065_62372312	62349826	T T	TGGCGGTG others(739): Show TGGCGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTG GGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGAT GACGGTGGGGGTGGGGGTGATGACGGTGATGGTGGGGGTGATGATGGTGG GGGTGGGGGTGGGGGTGGGGGTGAGGGTGATGATGGTGGGGGTGATGATG GTGATGGTGGGGGTGATGATGGTGAGGGTGATGATGGTGGGGGTGATGGT GGGGGTGGGGGTGGGGGTAATGACGGTGGGGTGGGGGTAATGACGGTGGG GGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGATGGTGGGGG TGATGACGATGATGGCGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATG ACGATGATGGTGGGGGTGATGACGGTGATGGCGGTGGGGGTGATGACGGT GGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGG GGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATG ACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGG GGTGGGGGTGATGACGGTGATGGTAGAGGTGATGATGGTGGGGGTGATGG TGGGGGTGGGGGTGGGGGTGGGGGTGATGATGGTGATGGTGGGGGTGATG ATGGTGAGGGTGATGATGGTGGGGGTGATGGTGGGGGTGGGGGTGGG	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0130 a0002c0003t0001g0130	1	186	0.0054	746	c.956 others(763): Show c.956+1877_956+1878insCCCACCCCCACCCCCACCATCACCCCCA CCATCATCACCCTCACCATCATCACCCCCACCATCACCATCATCACCCCC ACCCCCACCCCCACCCCCACCATCACCCCCACCATCATCACCTCTACCAT CACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCA TCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCC ACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCAC CGTCATCACCCCCACCCCCACCGTCATCACCCCCACCGCCATCACCGTCA TCACCCCCACCATCATCGTCATCACCCCCACCCCCACCGTCATCACCCCC ACCGCCATCATCGTCATCACCCCCACCATCACCGTCATCACCCCCACCCC CACCGTCATCACCCCCACCCCCACCGTCATTACCCCCACCCCACCGTCAT TACCCCCACCCCCACCCCCACCATCACCCCCACCATCATCACCCTCACCA TCATCACCCCCACCATCACCATCATCACCCCCACCATCATCACCCTCACC CCCACCCCCACCCCCACCCCCACCATCATCACCCCCACCATCACCGTCAT CACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCA CCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACC GTCATCACCCCCACCGCC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	6/79			chr20	TogoVar
MEGF6_chr1_3482951_3616508	3502015	G G	GCCTCCTC others(739): Show GCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCACGCCTCCTCACAT GGGCTCCTGGCGAGTGTGCCCCCCCGCACCTCCTCACATGGGCTCCTGGC GAGTGTGCCCCCCGTGCCTCACATGGGCTCCTGGCGAGTGTGCCCCCTGT GCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCACACCTCCTCACATGGG CTCCTGGCGAGTGTGCCCCCCACACCTCCTCACATGGGCTCCTGGCGAGT GTGCCCCCCCGCACCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGT GCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGTGCCTCACATGGGCTC CTGGCGAGTGTGCCCCCCCCGCACCTCTTCACATGGGCTCCTGGCGAGTG TGCCCCCCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCCGCGC CTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGCCTCCTCACATGGGC TCCTGGCGAGTGTGCCCCCCCGCACCTCCTCACATGGGCTCCTGGCGAGT GTGCCCCCCGTGCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGTGCCT CACATGGGCTCCTGGCGAGTGTGCCCCCCCCGCACCTCTTCACATGGGCT CCTGGCGAGTGTGCCCCCCGCCTCCTCACATGGGCTCCTGGCGAGTGTGC CCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0066 a0066	a0066c0093 a0066c0093	a0066c0093t0022 a0066c0093t0022	a0066c0093t0022g0186 a0066c0093t0022g0186	1	292	0.0034	746	c.218 others(761): Show c.2189-95_2189-94insGCGGGGGGCACACTCGCCAGGAGCCCATGT GAGGAGGCGCGGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGG GGGGCACACTCGCCAGGAGCCCATGTGAAGAGGTGCGGGGGGGGCACACT CGCCAGGAGCCCATGTGAGGCACGGGGGGCACACTCGCCAGGAGCCCATG TGAGGCACGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGTGCGGGG GGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGGGGGGCACACTCGCCA GGAGCCCATGTGAGGAGGCGCGGGGGGGGCACACTCGCCAGGAGCCCATG TGAGGAGGCGGGGGGCACACTCGCCAGGAGCCCATGTGAAGAGGTGCGGG GGGGGCACACTCGCCAGGAGCCCATGTGAGGCACGGGGGGCACACTCGCC AGGAGCCCATGTGAGGCACGGGGGGCACACTCGCCAGGAGCCCATGTGAG GAGGTGCGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGTGTGGGG GGCACACTCGCCAGGAGCCCATGTGAGGAGGTGTGGGGGGCACACTCGCC AGGAGCCCATGTGAGGCACAGGGGGCACACTCGCCAGGAGCCCATGTGAG GCACGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGTGCGGGGGGGC ACACTCGCCAGGAGCCCATGTGAGGAGGCGTGGGGGGCACACTCGCCAGG AGCCCATGTGAGGAGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	17/36			chr1	TogoVar
MLPH_chr2_237482251_237560322	237543405	G G	GGGGGGAC others(739): Show GGGGGGACAGTGGCAAGTGGGCACAGTGGTGAGTGGGGACAGTGGTGAGT GGGGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGGGACAGTGG TGAGTGGGCACGGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGACAGTG GTGAGTGGGGGGACAGTGGCAAGTGGGCACGGTGGTGAGTGGAGGGGACA GTGGTGAGTGGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGAC AGTGGTGAGTGGGGGGACAGTGGCAAGTGGGGACAGTGGTGAGTGGGGAC AGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGG GACAGTGGCAAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGA CAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGCACAGTGGTGAGTGGGGA CAGTGGTGAGTGGGGACATTGGTGAGTGGGGACAGTGGTGAGTGGGGACA GTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGGA CAGTGGCAAGTGGGCACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACA GTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGC ACGGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTTGG GACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGCACAGTGGTGAGT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0017 a0017	a0017c0021 a0017c0021	a0017c0021t0002 a0017c0021t0002	a0017c0021t0002g0255 a0017c0021t0002g0255	1	286	0.0035	746	c.153 others(763): Show c.1539+750_1539+751insGACAGTGGCAAGTGGGCACAGTGGTGAG TGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGAGGGGACAGTGGT GAGTGGGGGGACAGTGGTGAGTGGGCACGGTGGTGAGTGGAGGGGACAGT GGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGCACGGT GGTGAGTGGAGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGAGGGGA CAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGGA CAGTGGTGAGTGGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGG ACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGGACAGTGGTGAGTGGGG ACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGC ACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACATTGGTGAGTGGGGAC AGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGAC AGTGGTGAGTGGGGGGACAGTGGCAAGTGGGCACAGTGGTGAGTGGGGAC AGTGGTGAGTGGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGG GACAGTGGTGAGTGGGCACGGTGGTGAGTGGAGGGGACAGTGGTGAGTGG GGACAGTGGTGAGTTGGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGG GCACAGTGGTGAGTGGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTATAC others(739): Show CTGTATACATGTACAGCATGTATACTGTATACATGTACAGCATGTATACT GTATACATGTACAGCATGTATACTGTATACATGTACAGCATGTATACTGT GTACAGCATGTATACTGTGTACAGCATGTATACTGTGTACAGCATGTATA CTGTATACAGCATGTATACTGTATGTATGTATACTGTATGTATGTATACC GTATATATACACAGTATGTATACCGTATATATACACAGTATGTATACCGT ATATATACACAGTATGTATACCGTATATATACACAGTATGTATACCGTAT ATATACACAGTATGTATACCGTATATATACACAGTATGTATACTGTGTAT ATATACACAGTATGTATACTGCATACAGTATGTATACTGTATACATACTG CATGCAGTATGTATACTGATACATACTGCATGCAGTATGTATACTGTATA CATACTGCATGCAGTATGTATACTGTATACATACTGCATGCAGTATGTAT ACTGTATATATACACTATACAGTATGTATACTGTATATATACACTATACA GTATGTATACTGTATATATACACAATACAGTATGTATACTGTATATATAC ACAATACAGTATGTATACTGTATATATACACACAGTATGTATACTGTATA TATACACAATACAGTATGTATACTGTATATATACACAATACAGTATGTAT ACTGTATATATACACACAGTATGTATACTGTATATATACACACAGTA	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0108 a0001c0001t0006g0108	1	362	0.0028	746	c.-75 others(765): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTATTGTGTATATATACAGT ATACATACTGTATTGTGTATATATACAGTATACATACTGTGTGTATATAT ACAGTATACATACTGTATTGTGTATATATACAGTATACATACTGTATTGT GTATATATACAGTATACATACTGTATAGTGTATATATACAGTATACATAC TGTATAGTGTATATATACAGTATACATACTGCATGCAGTATGTATACAGT ATACATACTGCATGCAGTATGTATACAGTATACATACTGCATGCAGTATG TATCAGTATACATACTGCATGCAGTATGTATACAGTATACATACTGTATG CAGTATACATACTGTGTATATATACACAGTATACATACTGTGTATATATA CGGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATACG GTATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGT ATACATACTGTGTATATATACGGTATACATACATACAGTATACATACATA CAGTATACATGCTGTATACAGTATACATGCTGTACACAGTATACATGCTG TACACAGTATACATGCTGTACACAGTATACATGCTGTACATGTATACAGT ATACATGCTGTACATGTATACAGTATACATGCTGTACATGTATACAGTAT ACATGCTGTACATGTATACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTGTAC others(739): Show CTGTGTACAGCATGTATACTGTGTACAGCATGTATACTGTGTACAGCATG TATACTGTGTACAGCATGTATACTGTATGTATGTATACTGTATGTATGTA TACTGTATGTATGTATACCGTATATATACACAGTATGTATACCGTATATA TACACAGTATGTATACCGTATATATACACAGTATGTATACCGTATATATA CACAGTATGTATACCGTATATATACACAGTATGTATACCGTATATATACA CAGTATGTATACCGTATATATACACAGTATGTATACCGTATATATACACA GTATGTATACCGTATATATACACAGTATGTATACCGTATATATACACAGT ATGTATACTGTGTATGCAGTATGTATACAGTATACATACTGCATGCAGTA TGTATACTGTATACATACTGCATGCAGTATGTATACTGTATATATACACT ATACAGTATGTATACTGTATATATACACTATACAGTATGTATACTGTATA TATACACACAGTATGTATACTGTATATATACACACAGTATGTATACTGTA TATATACACACAGTATGTATACTGTATATATACACACAGTATGTATACTG TATATATACACACAGTATGTATACTGTATATATACACACAGTATGTATAC TGTATATATACACACAGTATGTATACTGTATATATACACACAGTATGTAT ACTGTATATATACACACAGTATGTATACTGTATATATACACACAGTA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0008 a0001c0007t0008	a0001c0007t0008g0070 a0001c0007t0008g0070	1	362	0.0028	746	c.-75 others(765): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTATA CATACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTA TACATACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAG TATACATACTGTGTGTATATATACAGTATACATACTGTGTGTATATATAC AGTATACATACTGTGTGTATATATACAGTATACATACTGTATAGTGTATA TATACAGTATACATACTGTATAGTGTATATATACAGTATACATACTGCAT GCAGTATGTATACAGTATACATACTGCATGCAGTATGTATACTGTATACA TACTGCATACACAGTATACATACTGTGTATATATACGGTATACATACTGT GTATATATACGGTATACATACTGTGTATATATACGGTATACATACTGTGT ATATATACGGTATACATACTGTGTATATATACGGTATACATACTGTGTAT ATATACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATAT ATACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATATAT ACGGTATACATACATACAGTATACATACATACAGTATACATACATACAGT ATACATGCTGTACACAGTATACATGCTGTACACAGTATACATGCTGTACA CAGTATACATGCTGTACACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NOC4L_chr12_132139457_132157468	132149578	C C	CCACACCC others(739): Show CCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACAC CCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAA TCCCCTCGGTGAGTGCGGCCGCCTCGCTCATACCACACCCCTAATCCCCT CGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGA GTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCG CCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCT CACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCA CACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCCTACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCC CTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGT GAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGC CGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGC CTCGCTCATACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACT CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCT	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	294	0.0034	746	c.901 others(761): Show c.901+683_901+684insCACACCCCTAATCCCCTCGGTGAGTGCGGC CGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTC GCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCAT ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTA ATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCC TCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCG GCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCC TCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTC CTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCA CACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCC TAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC CCTCGGTGAGTGCGGCCGCCTCGCTCATACCACACCCCTAATCCCCTCGG TGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCACTCCT	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14			chr12	TogoVar
NRIP1_chr21_14956235_15070000	15031103	C C	CACATTCC others(739): Show CACATTCCCTTTCTATGTGTGTACACTCTGGAAGGCACTCAGAGGATCAC CACATTCCCTTTCTATGTGTATACACTCTGGAAGGTGTTCAGAGGTTCAC CACATTCCCTTTCTATGTGTGTACACTCTGGAAGGCACTCAGAGGATCAC CACATTCCCTTTCTATGTGTATACACTCTGGAAGGTGTTCAGAGGTTCAC CACATTCCCTTTCTATGTGTATACTCTGGAAGGCGGTTGGAGGTTCACTA CATTCCCTTTCTATGTGTATACACTCTGGAAGGCGCACGGAGGATCACCA CATTCCCTTTCTATGTGTGTACACTCTGGAAGGCGTTCAGAGGTTCACCA CATTCCCTTTCTATGTGTATACACTCTGGAAGGTGGTTGGAGGTTCACCA CATTCCCTTTCTATGTGTATACACTCTGGAAGGCGGTTGGAGGTTCACCA CATTCCCTTTCTATGTGTATACACTCTGGAAGGCGCTCGGAGGATCACCA CATTCCCTTTCTATGTGTATACACTCTGGAAGGTGTTCAGAGGTTCACCA CATTCCCTTTCTATGTGTGTACACTCTGGAAGGCGCTCGGAGGGTCACTA CATTCCCTTTCTATGTGTGTACACTCTGGAAGGCACTCAGAGGATCACCA CATTCCCTTTCTATGTGTATACACTCTGGAAGGTGTTCAGAGGTTCACCA CATTCCCTTTCTATGTGTATACTCTGGAAGGCAGTTGGAGGTTCACT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02818.hp2 NA19043.hp1 HG02258.hp2 HG02818.hp2 NA19043.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0186 a0005c0006t0001g0223 a0005c0006t0001g0224 a0005c0006t0001g0186 a0005c0006t0001g0223 a0005c0006t0001g0224	3	398	0.0075	746	c.-45 others(767): Show c.-458+12391_-458+12392insAGTGAACCTCCAACTGCCTTCCAG AGTATACACATAGAAAGGGAATGTGGTGAACCTCTGAACACCTTCCAGAG TGTATACACATAGAAAGGGAATGTGGTGATCCTCTGAGTGCCTTCCAGAG TGTACACACATAGAAAGGGAATGTAGTGACCCTCCGAGCGCCTTCCAGAG TGTACACACATAGAAAGGGAATGTGGTGAACCTCTGAACACCTTCCAGAG TGTATACACATAGAAAGGGAATGTGGTGATCCTCCGAGCGCCTTCCAGAG TGTATACACATAGAAAGGGAATGTGGTGAACCTCCAACCGCCTTCCAGAG TGTATACACATAGAAAGGGAATGTGGTGAACCTCCAACCACCTTCCAGAG TGTATACACATAGAAAGGGAATGTGGTGAACCTCTGAACGCCTTCCAGAG TGTACACACATAGAAAGGGAATGTGGTGATCCTCCGTGCGCCTTCCAGAG TGTATACACATAGAAAGGGAATGTAGTGAACCTCCAACCGCCTTCCAGAG TATACACATAGAAAGGGAATGTGGTGAACCTCTGAACACCTTCCAGAGTG TATACACATAGAAAGGGAATGTGGTGATCCTCTGAGTGCCTTCCAGAGTG TACACACATAGAAAGGGAATGTGGTGAACCTCTGAACACCTTCCAGAGTG TATACACATAGAAAGGGAATGTGGTGATCCTCTGAGTGCCTTCCAGAGTG TACACACATAGAAAGGGAATGT	NRIP1	ENSG00000180530.11	transcript	ENST00000318948.7	protein_coding	2/3			chr21	TogoVar
NRIP1_chr21_14956235_15070000	15031103	C C	CACATTCC others(739): Show CACATTCCCTTTCTATGTGTGTACACTCTGGAAGGCACTCAGAGGATCAC CACATTCCCTTTCTATGTGTATACACTCTGGAAGGTGTTCAGAGGTTCAC CACATTCCCTTTCTATGTGTGTACACTCTGGAAGGCACTCAGAGGATCAC CACATTCCCTTTCTATGTGTATACACTCTGGAAGGTGTTCAGAGGTTCAC CACATTCCCTTTCTATGTGTATACTCTGGAAGGCGGTTGGAGGTTCACTA CATTCCCTTTCTATGTGTATACACTCTGGAAGGCGCACGGAGGATCACCA CATTCCCTTTCTATGTGTGTACACTCTGGAAGGCGTTCAGAGGTTCACCA CATTCCCTTTCTATGTGTATACACTCTGGAAGGTGGTTGGAGGTTCACCA CATTCCCTTTCTATGTGTATACACTCTGGAAGGCGGTTGGAGGTTCACCA CATTCCCTTTCTATGTGTATACACTCTGGAAGGCGCTCGGAGGATCACCA CATTCCCTTTCTATGTGTATACACTCTGGAAGGTGTTCAGAGGTTCACCA CATTCCCTTTCTATGTGTGTACACTCTGGAAGGCGCTCGGAGGGTCACTA CATTCCCTTTCTATGTGTGTACACTCTGGAAGGCACTCAGAGGATCACCA CATTCCCTTTCTATGTGTATACACTCTGGAAGGTGTTCAGAGGTTCACCA CATTCCCTTTCTATGTGTATACTCTGGAAGGCGGTTGGAGGTTCACT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01884.hp2 HG03041.hp2 others(3): Show HG01106.hp1 HG01884.hp2 HG03041.hp2 HG03130.hp1 HG03471.hp1 HG03486.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0004 a0004c0007 a0001c0001 a0001c0004 a0004c0007	a0001c0001t0001 a0001c0004t0011 a0004c0007t0041 a0001c0001t0001 a0001c0004t0011 a0004c0007t0041	a0001c0001t0001g0185 a0001c0001t0001g0195 a0001c0001t0001g0197 others(3): Show a0001c0001t0001g0185 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0004t0011g0199 a0004c0007t0041g0187	6	398	0.0151	746	c.-45 others(767): Show c.-458+12391_-458+12392insAGTGAACCTCCAACCGCCTTCCAG AGTATACACATAGAAAGGGAATGTGGTGAACCTCTGAACACCTTCCAGAG TGTATACACATAGAAAGGGAATGTGGTGATCCTCTGAGTGCCTTCCAGAG TGTACACACATAGAAAGGGAATGTAGTGACCCTCCGAGCGCCTTCCAGAG TGTACACACATAGAAAGGGAATGTGGTGAACCTCTGAACACCTTCCAGAG TGTATACACATAGAAAGGGAATGTGGTGATCCTCCGAGCGCCTTCCAGAG TGTATACACATAGAAAGGGAATGTGGTGAACCTCCAACCGCCTTCCAGAG TGTATACACATAGAAAGGGAATGTGGTGAACCTCCAACCACCTTCCAGAG TGTATACACATAGAAAGGGAATGTGGTGAACCTCTGAACGCCTTCCAGAG TGTACACACATAGAAAGGGAATGTGGTGATCCTCCGTGCGCCTTCCAGAG TGTATACACATAGAAAGGGAATGTAGTGAACCTCCAACCGCCTTCCAGAG TATACACATAGAAAGGGAATGTGGTGAACCTCTGAACACCTTCCAGAGTG TATACACATAGAAAGGGAATGTGGTGATCCTCTGAGTGCCTTCCAGAGTG TACACACATAGAAAGGGAATGTGGTGAACCTCTGAACACCTTCCAGAGTG TATACACATAGAAAGGGAATGTGGTGATCCTCTGAGTGCCTTCCAGAGTG TACACACATAGAAAGGGAATGT	NRIP1	ENSG00000180530.11	transcript	ENST00000318948.7	protein_coding	2/3			chr21	TogoVar
NRIP1_chr21_14956235_15070000	15031103	C C	CACATTCC others(739): Show CACATTCCCTTTCTATGTGTGTACACTCTGGAAGGCACTCAGAGGATCAC CACATTCCCTTTCTATGTGTATACACTCTGGAAGGTGTTCAGAGGTTCAC CACATTCCCTTTCTATGTGTGTACACTCTGGAAGGCACTCAGAGGATCAC CACATTCCCTTTCTATGTGTATACACTCTGGAAGGTGTTCAGAGGTTCAC CACATTCCCTTTCTATGTGTATACTCTGGAAGGCGGTTGGAGGTTCACTA CATTCCCTTTCTATGTGTATACACTCTGGAAGGCGCACGGAGGATCACCA CATTCCCTTTCTATGTGTGTACACTCTGGAAGGCGTTCAGAGGTTCACCA CATTCCCTTTCTATGTGTATACACTCTGGAAGGTGGTTGGAGGTTCACCA CATTCCCTTTCTATGTGTATACACTCTGGAAGGCGGTTGGAGGTTCACCA CATTCCCTTTCTATGTGTATACACTCTGGAAGGCGCTCGGAGGATCACCA CATTCCCTTTCTATGTGTATACACTCTGGAAGGTGTTCAGAGGTTCACCA CATTCCCTTTCTATGTGTGTACACTCTGGAAGGCGCTCGGAGGGTCACTA CATTCCCTTTCTATGTGTGTACACTCTGGAAGGCATTCAGAGGATCACCA CATTCCCTTTCTATGTGTATACACTCTGGAAGGTGTTCAGAGGTTCACCA CATTCCCTTTCTATGTGTATACTCTGGAAGGCGGTTGGAGGTTCACT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	398	0.0025	746	c.-45 others(767): Show c.-458+12391_-458+12392insAGTGAACCTCCAACCGCCTTCCAG AGTATACACATAGAAAGGGAATGTGGTGAACCTCTGAACACCTTCCAGAG TGTATACACATAGAAAGGGAATGTGGTGATCCTCTGAATGCCTTCCAGAG TGTACACACATAGAAAGGGAATGTAGTGACCCTCCGAGCGCCTTCCAGAG TGTACACACATAGAAAGGGAATGTGGTGAACCTCTGAACACCTTCCAGAG TGTATACACATAGAAAGGGAATGTGGTGATCCTCCGAGCGCCTTCCAGAG TGTATACACATAGAAAGGGAATGTGGTGAACCTCCAACCGCCTTCCAGAG TGTATACACATAGAAAGGGAATGTGGTGAACCTCCAACCACCTTCCAGAG TGTATACACATAGAAAGGGAATGTGGTGAACCTCTGAACGCCTTCCAGAG TGTACACACATAGAAAGGGAATGTGGTGATCCTCCGTGCGCCTTCCAGAG TGTATACACATAGAAAGGGAATGTAGTGAACCTCCAACCGCCTTCCAGAG TATACACATAGAAAGGGAATGTGGTGAACCTCTGAACACCTTCCAGAGTG TATACACATAGAAAGGGAATGTGGTGATCCTCTGAGTGCCTTCCAGAGTG TACACACATAGAAAGGGAATGTGGTGAACCTCTGAACACCTTCCAGAGTG TATACACATAGAAAGGGAATGTGGTGATCCTCTGAGTGCCTTCCAGAGTG TACACACATAGAAAGGGAATGT	NRIP1	ENSG00000180530.11	transcript	ENST00000318948.7	protein_coding	2/3			chr21	TogoVar
NRIP1_chr21_14956235_15070000	15031103	C C	CACATTCC others(739): Show CACATTCCCTTTCTATGTGTGTACACTCTGGAAGGCACTCAGAGGATCAC CACATTCCCTTTCTATGTGTATACACTCTGGAAGGTGTTCAGAGGTTCAC CACATTCCCTTTCTATGTGTGTACACTCTGGAAGGCACTCAGAGGATCAC CACATTCCCTTTCTATGTGTATACACTCTGGAAGGTGTTCAGAGGTTCAC CACATTCCCTTTCTATGTGTATACTCTGGAAGGCGGTTGGAGGTTCACTA CATTCCCTTTCTATGTGTATACACTCTGGAAGGCGCACGGAGGATCACCA CATTCCCTTTCTATGTGTGTACACTCTGGAAGGCGTTCAGAGGTTCACCA CATTCCCTTTCTATGTGTATACACTCTGGAAGGTGGTTGGAGGTTCACCA CATTCCCTTTCTATGTGTATACACTCTGGAAGGCGGTTGGAGGTTCACCA CATTCCCTTTCTATGTGTATACACTCTGGAAGGCGCTCGGAGGATCACCA CATTCCCTTTCTATGTGTATACACTCTGGAAGGTGTTCAGAGGTTCACCA CATTCCCTTTCTATGTGTGTACACTCTGGAAGGTGCTCGGAGGGTCACTA CATTCCCTTTCTATGTGTGTACACTCTGGAAGGCACTCAGAGGATCACCA CATTCCCTTTCTATGTGTATACACTCTGGAAGGTGTTCAGAGGTTCACCA CATTCCCTTTCTATGTGTATACTCTGGAAGGCGGTTGGAGGTTCACT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	398	0.0025	746	c.-45 others(767): Show c.-458+12391_-458+12392insAGTGAACCTCCAACCGCCTTCCAG AGTATACACATAGAAAGGGAATGTGGTGAACCTCTGAACACCTTCCAGAG TGTATACACATAGAAAGGGAATGTGGTGATCCTCTGAGTGCCTTCCAGAG TGTACACACATAGAAAGGGAATGTAGTGACCCTCCGAGCACCTTCCAGAG TGTACACACATAGAAAGGGAATGTGGTGAACCTCTGAACACCTTCCAGAG TGTATACACATAGAAAGGGAATGTGGTGATCCTCCGAGCGCCTTCCAGAG TGTATACACATAGAAAGGGAATGTGGTGAACCTCCAACCGCCTTCCAGAG TGTATACACATAGAAAGGGAATGTGGTGAACCTCCAACCACCTTCCAGAG TGTATACACATAGAAAGGGAATGTGGTGAACCTCTGAACGCCTTCCAGAG TGTACACACATAGAAAGGGAATGTGGTGATCCTCCGTGCGCCTTCCAGAG TGTATACACATAGAAAGGGAATGTAGTGAACCTCCAACCGCCTTCCAGAG TATACACATAGAAAGGGAATGTGGTGAACCTCTGAACACCTTCCAGAGTG TATACACATAGAAAGGGAATGTGGTGATCCTCTGAGTGCCTTCCAGAGTG TACACACATAGAAAGGGAATGTGGTGAACCTCTGAACACCTTCCAGAGTG TATACACATAGAAAGGGAATGTGGTGATCCTCTGAGTGCCTTCCAGAGTG TACACACATAGAAAGGGAATGT	NRIP1	ENSG00000180530.11	transcript	ENST00000318948.7	protein_coding	2/3			chr21	TogoVar
PAK2_chr3_196734857_196837647	196811197	T T	TCCTCCCT others(739): Show TCCTCCCTTCCCTCCCTTCCTTCCCTTCCCTACCCTCCCTTCCCTCCCTT CCTTCCCTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTC CCTCCCTTCCTTCCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCCTC CCTTCCTTCCCTTCCCTACCCTCCCTTCCCTTCCTTCCTTCCCTCCCTTC CTTCCCTCCCTTCCTTCCCTTCCCTACCCTCCCTTCCCTCCCTCCCTTCC CTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCT CCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTC CCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCC TCCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTT CCCTCCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCC CTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCC TCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTT CCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTTCCCTTCCTTC CCTACCCTCCCTTCCCTCCCTTCCTTCCCTTCCCTTCCTTCCTTCCCTCC CTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTC	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0084 a0001c0001t0018g0084	1	178	0.0056	746	c.773 others(761): Show c.773+554_773+555insCTCCCTTCCTTCCCTTCCCTACCCTCCCTT CCCTCCCTTCCTTCCCTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTC CCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCTTCCTTCCTTCCTC CCTTCCCTCCCTTCCTTCCCTTCCCTACCCTCCCTTCCCTTCCTTCCTTC CCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTACCCTCCCTTCCCTCC CTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCT TCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTC CCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCC TTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCT CCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTCCCTTC CTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCC TCCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTT CCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTTC CCTTCCTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTTCCCTTCCTTC CTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCT TCCTTCCCTCCCTTCC	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PCBP3_chr21_45638725_45947450	45909798	C C	CCACCCAC others(739): Show CCACCCACTGCCCAGATACGGACCCGGCCCACCCACTGCCCAGATACGGA CCCCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCCCACCCACTGC CCAGATACGGACCCCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCC CACCCACTGCCCAGATACGGACCCCCCCCCCACCCACTGCCCAGATATGG ACCCCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCACCCACTGCC CAGATACGGACCCCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCAC CCACTGCCCAGATACGGACCCTGGCCACCCACTGCCCAGATACGGACCCG GCCACCCACTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAGATACG GACCTGGCCACCCACTGCCCAGATACGGACCCGGCCACCCACTGCCCAGA TACAGACCTGGCCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTG CCCAGATACGGACCCCCCCCCCACCCACTGCCCAGATACGGACCCCCCCC ACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACC CGGCCCACCCACTGCCCAGATACGGACCCCCCCCCCACCCACTGCCCAGA TACGGACCCCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCACCCA CTGCCCAGATACGGACCTGGCCACCCACTGCCCAGATACAGACCCGG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0020 a0001c0003t0020	a0001c0003t0020g0222 a0001c0003t0020g0222	1	292	0.0034	746	c.471 others(761): Show c.471+313_471+314insACCCACTGCCCAGATACGGACCCGGCCCAC CCACTGCCCAGATACGGACCCCCCCCCCACCCACTGCCCAGATACGGACC CCCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCCACCCACTGCCC AGATACGGACCCCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCCA CCCACTGCCCAGATATGGACCCCCCCCCCACCCACTGCCCAGATACGGAC CCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCCACCCACTGCCCA GATACGGACCCCCCCCACCCACTGCCCAGATACGGACCCTGGCCACCCAC TGCCCAGATACGGACCCGGCCACCCACTGCCCAGATACGGACCCCCCCCC ACCCACTGCCCAGATACGGACCTGGCCACCCACTGCCCAGATACGGACCC GGCCACCCACTGCCCAGATACAGACCTGGCCCACCCACTGCCCAGATACG GACCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCCACCCACTGCC CAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCACCC ACTGCCCAGATACGGACCCGGCCCACCCACTGCCCAGATACGGACCCCCC CCCCACCCACTGCCCAGATACGGACCCCCCCCCCACCCACTGCCCAGATA CGGACCCCCCCCCACCCACTGCCCAGATACGGACCTGGCCACCCACTGCC CAGATACAGACCCGGC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PIEZO1_chr16_88710338_88790220	88731928	C C	CGGGGCGT others(739): Show CGGGGCGTGGGGATGCACTGAGTCTGGGGATGGGCGGGGTGTGGGGATGC ACTGAGTCTGGGGATGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGGA TGGGCGGGGCGTGGGGATGCACTGAGTCTGGGGGAGGGTGGGGTGTGGGG ATGCACTGAGTCTGGGGGGAGGGGGGGCGTGGGGATGCACTGAGTCTGGG GGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGTGGGGTGTGGGG ATGCACTGAGTCTGGGGGAGGGCGGGGTGTGGGGATGCACTGAGTCGGGG GGAGGGTGGGGTGTGGGGATGCACTGAGTCTGGGGATGGGCGGGGTGTGG GGATGCACTGAGTCTGGGGGAGGGCGGGGTGTGGGGATGCACTGAGTCTG GGGATGGGCGGGGCGTGGGGATGCACTGAGTCTGGGGATGGGCGGGGTGT GGGGATGCACTGAGTCTGGGGGAGGGCGGGGTGTGGGGATGCACTGAGTC TGGGGATGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGCGGGGT GTGGGGATGCACTGAGTCTGGGGGAGGGTGGGGTGTGGGGATGCACTGAG TCTGGGGGAGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGTGGG GTGTGGGGATGCACTGAGTCTGGGGGGAGGGGGGGCGTGGGGATGCACTG AGTCTGGGGGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGT	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0079 a0079	a0079c0153 a0079c0153	a0079c0153t0001 a0079c0153t0001	a0079c0153t0001g0246 a0079c0153t0001g0246	1	282	0.0036	746	c.299 others(761): Show c.2992-19_2992-18insACCCTCCCCCAGACTCAGTGCATCCCCACA CCCCCCCCCCCCAGACTCAGTGCATCCCCACGCCCCCCCTCCCCCCAGAC TCAGTGCATCCCCACACCCCACCCTCCCCCAGACTCAGTGCATCCCCACA CCCCGCCCTCCCCCAGACTCAGTGCATCCCCACACCCCACCCTCCCCCAG ACTCAGTGCATCCCCACACCCCGCCCTCCCCCAGACTCAGTGCATCCCCA CACCCCGCCCATCCCCAGACTCAGTGCATCCCCACACCCCGCCCTCCCCC AGACTCAGTGCATCCCCACACCCCGCCCATCCCCAGACTCAGTGCATCCC CACGCCCCGCCCATCCCCAGACTCAGTGCATCCCCACACCCCGCCCTCCC CCAGACTCAGTGCATCCCCACACCCCGCCCATCCCCAGACTCAGTGCATC CCCACACCCCACCCTCCCCCCGACTCAGTGCATCCCCACACCCCGCCCTC CCCCAGACTCAGTGCATCCCCACACCCCACCCTCCCCCAGACTCAGTGCA TCCCCACACCCCCCCCCCCCAGACTCAGTGCATCCCCACGCCCCCCCTCC CCCCAGACTCAGTGCATCCCCACACCCCACCCTCCCCCAGACTCAGTGCA TCCCCACGCCCCGCCCATCCCCCCAGACTCAGTGCATCCCCACACCCCGC CCATCCCCAGACTCAGTGCATCCCCACACCCCGCCCATCCCCAGACTCAG TGCATCCCCACGCCCC	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	21/50			chr16	TogoVar
PRKCZ_chr1_2045411_2190395	2124246	G G	GGTAGTTA others(739): Show GGTAGTTAGGGTCATGGTGGTGGTTAGGTTCATGGTGGTAGTTAGGGTCA CGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGG GTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGT TAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGGGTCACGGCTATAGT TAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGG TAGTTAGGGTCGTGGTGGTTAGGTTCATGGTGGTAGTTAGGGTCACGGCT GTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCAT GGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGA TCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTT AGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTTAGGGTCATGGTGGTAGT TAGGATCACGGCTGTAGTTAGGGTCAAGGTGGTAGTTAGGATCATGGCTG TAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATG GTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGT CACAGCGATAGTTAGCATCATGGTGGTAGTTAGGGTCATGGTGGTAGTTA GGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGCT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	286	0.0035	746	c.335 others(765): Show c.335-11014_335-11013insAGTTAGGGTCATGGTGGTGGTTAGGT TCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTT AGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTAT AGTTGGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGG TGGTAGGGTCACGGCTATAGTTAGGGTCATGGTGGTAGTTAGGGTCACGG CTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTTAGGTTCATG GTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGAT CATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTG GGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTA GTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGT GGTTAGGGTCATGGTGGTAGTTAGGATCACGGCTGTAGTTAGGGTCAAGG TGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTC ACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGG GGTCATGGTGGTAGTTAGGGTCACAGCGATAGTTAGCATCATGGTGGTAG TTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTG GTAGTTAGGGTCATGGCTGT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
RABL6_chr9_136802948_136846187	136803280	G G	GCCGGGGC others(739): Show GCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGG TGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGAT CTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCC CCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGG GGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCT CTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGC CCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCA GGGCCCAGGGCCGGGGGCCCCCCAGGGCGGGCCCTCTTGGATCTTCGGAT GGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCGGGC CCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0039 a0001c0006t0001g0039	1	330	0.0030	746	c.-49 others(757): Show c.-4917_-4916insCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTT CGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGG CCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGG GCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGT CAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCT TGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCC CCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGG GTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCGGGCCCT CTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGG CCCCCCAGGGCGGGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTC AGGGCCCAGGGC	RABL6	ENSG00000196642.19	transcript	ENST00000311502.12	protein_coding		4667		chr9	TogoVar
RABL6_chr9_136802948_136846187	136803280	G G	GCCGGGGG others(739): Show GCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGAT CTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCC CCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGG CCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGG TCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTC TTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGC CCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCA GGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGAT GGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGC CCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	330	0.0030	746	c.-49 others(757): Show c.-4917_-4916insCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGG CCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGG GCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTG GATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCC CCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGG CCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGG GTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCT CTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGG CCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTC AGGGCCCAGGGC	RABL6	ENSG00000196642.19	transcript	ENST00000311502.12	protein_coding		4667		chr9	TogoVar
RASA3_chr13_113972783_114137623	114099784	C C	CAGCCCCC others(739): Show CAGCCCCCCCACAGCCCCCACAGCAGCCCCCCCACAGCCCCCCACAGCCC CCCACAGCCCCCACAGCAGCCCCCCCACATCAGCCCCCCCACAGCCCCCC CACAGCCCCCACAGCAGCCCCCCCACAGCCCCCACACAGCCCCCACACAG CCCCCCCACAGCCCCCCACAGCCCCCCCACAGCCCCCACAGCAGCCCCCC CACAGCCCCCCCACAGCCCCCACAGCAGCCCCCCACAGCAGCCCCCCGTA GCCCCCACCCCACAGCCCCCCACAGCCCCCCACAGCCCCCACAGCAGCCC CCCCACATCAGCCCCCCCACAGCCCCCACAGCAGCCCCCCCACAGCCCCC CACAGCCCCCCACAGCCCCCACAGCAGCCCCCCCACATCAGCCCCCCCAC AGCCCCCCCACAGCCCCCCACAGCTCCCCCACAGCCCCCCCACAGCCCCC CCACAGCCCCCCACAGCCCCCCCACAGCCCCCCCAGCCCCCCCACAGCCC CCCACAGCCCCCCACAGCCCCCCACAGCCCCCCCACAGCCCCCACAGCCC CCCCACAGCCCCCACAGCCCCCCCACAGCCCCCCACAGCCCCCCCACAGC CCCCCACAGCCCCCCCACAGCCCCCCACAGCCCCCCCACAGCCCCCACAG CAGCCCCCCCACAGCCCCCCACAGCCCCCCCACAGCCCCCACAGCCCCCC ACAGCTCCCCCACAGCCCCCCCACAGCCCCCCACAGCCCCCCCACAG	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0012 a0001c0001t0006g0012	1	67	0.0149	746	c.56- others(763): Show c.56-25948_56-25947insCTGTGGGGGGGCTGTGGGGGGCTGTGGG GGGGCTGTGGGGGAGCTGTGGGGGGCTGTGGGGGCTGTGGGGGGGCTGTG GGGGGCTGTGGGGGGGCTGCTGTGGGGGCTGTGGGGGGGCTGTGGGGGGC TGTGGGGGGGCTGTGGGGGGCTGTGGGGGGGCTGTGGGGGGCTGTGGGGG GGCTGTGGGGGCTGTGGGGGGGCTGTGGGGGCTGTGGGGGGGCTGTGGGG GGCTGTGGGGGGCTGTGGGGGGCTGTGGGGGGGCTGGGGGGGCTGTGGGG GGGCTGTGGGGGGCTGTGGGGGGGCTGTGGGGGGGCTGTGGGGGAGCTGT GGGGGGCTGTGGGGGGGCTGTGGGGGGGCTGATGTGGGGGGGCTGCTGTG GGGGCTGTGGGGGGCTGTGGGGGGCTGTGGGGGGGCTGCTGTGGGGGCTG TGGGGGGGCTGATGTGGGGGGGCTGCTGTGGGGGCTGTGGGGGGCTGTGG GGGGCTGTGGGGTGGGGGCTACGGGGGGCTGCTGTGGGGGGCTGCTGTGG GGGCTGTGGGGGGGCTGTGGGGGGGCTGCTGTGGGGGCTGTGGGGGGGCT GTGGGGGGCTGTGGGGGGGCTGTGTGGGGGCTGTGTGGGGGCTGTGGGGG GGCTGCTGTGGGGGCTGTGGGGGGGCTGTGGGGGGGCTGATGTGGGGGGG CTGCTGTGGGGGCTGTGGGGGGCTGTGGGGGGCTGTGGGGGGGCTGCTGT GGGGGCTGTGGGGGGGCT	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RBFOX3_chr17_79084345_79616051	79555301	A A	ATGATGGT others(739): Show ATGATGGTGGTGGTATTGATGGAGATGATGATGACAGTGATAATGGTGGT GGTGGTAATGGTGATTATATGTCAGTGATGGTGGTGGTGGTGGTGATGGT GATGATAGTCATGATGGTGGTGATAGTGATGGCAATGGTGATGATGGCAG TGATGGTGATTATGAGAGTAGTGATGGTGGTGATGGCGATGGTAATGGTG ATAATGGCGATGATGGTGGTGACGGTGATGATGATAGTAATGATGGTGGT GATGGCAGTGGTGGTGGTAACGGTGGTGATAATAGTGATAATGGTGGTGA CGGCAGTGGTGGTGGTGGTAATGGTGATCATGTCAGTGATGGTGGTGGTG GTGATGATAGTAATGATGGTGGTGATGGTGGTGGCAATGGTGATGATGGC AGTGATGGCGGTGAGGGTGATTATGATAGTAGTGATGGTGATGGCAATGG TAATGGTGATAATGGCGATGATGGTGGTGATGGCAGTGGTGGTGGTAACG GTGGTGATAATAGTGATAATGGTGGTGATGACAGTGGTGGTGGTGGTGGT GATGGTGGTGATGATGGTAGTTGTGGTGGTGGTGATGGTGGTCATGATGG TAGTTGTGGTGGTGGTGATGGTGGTGATGATGGTAGTTGTGGTGGTGGTG ATGGTGGTGATGATGGTAGTTGTGGTGGTGGTGATGGTGGTGATGATGGT AGTTGTGGTGGTGGTGATGGTGGTGATGACAGTGGTGGTGGTGGTGG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	154	0.0065	746	c.-32 others(767): Show c.-320+55524_-320+55525insCCACCACCACCACCACTGTCATCA CCACCATCACCACCACCACAACTACCATCATCACCACCATCACCACCACC ACAACTACCATCATCACCACCATCACCACCACCACAACTACCATCATCAC CACCATCACCACCACCACAACTACCATCATGACCACCATCACCACCACCA CAACTACCATCATCACCACCATCACCACCACCACCACCACTGTCATCACC ACCATTATCACTATTATCACCACCGTTACCACCACCACTGCCATCACCAC CATCATCGCCATTATCACCATTACCATTGCCATCACCATCACTACTATCA TAATCACCCTCACCGCCATCACTGCCATCATCACCATTGCCACCACCATC ACCACCATCATTACTATCATCACCACCACCACCATCACTGACATGATCAC CATTACCACCACCACCACTGCCGTCACCACCATTATCACTATTATCACCA CCGTTACCACCACCACTGCCATCACCACCATCATTACTATCATCATCACC GTCACCACCATCATCGCCATTATCACCATTACCATCGCCATCACCACCAT CACTACTCTCATAATCACCATCACTGCCATCATCACCATTGCCATCACTA TCACCACCATCATGACTATCATCACCATCACCACCACCACCACCATCACT GACATATAATCACCATTACCACCACCACCATTATCACTGTCATCATCATC TCCATCAATACCACCACCATCA	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
SEL1L2_chr20_13844247_13995614	13934358	C C	CATATATA others(739): Show CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATATTCCATATATATATATAT TCCATATATATATATATTCCATATATATATATATTCCATATATATATATA TTCCATATATATATATATTCCATATATATATATATTCCATATATATATAT ATTCCATATATATATATATTCCATATATATATATATTCCATATATATATA TATTCCATATATATATATATTCCATATATATATATATTCCATATATATAT ATATTCCATATATATATATATTCCATATATATATATATTCCATATATATA TATATTCCATATATATATATATTCCATATATATATATATTCCATATATAT ATATATTCCATATATATATATATTCCATATATATATATTCCATATATATA TATATTCCATATATATATATATTCCATATATATATATATTCCATATATAT ATATATTCCATATATATATATTCCATATATATATATATTCCATATATATA TATATTCCATATATATATATATTCCATATATATATATATTCCATATATAT ATATATTCCATATATATATATATTCCATATATATATATATTCCATATATA TATATATTCCATATATATATATATTCCATATATATATATATTCCATATAT ATATATATTCCATATATATATATATTCCATATATATATATATTCCAT	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	324	0.0031	746	c.115 others(763): Show c.115-2588_115-2587insATGGAATATATATATATATGGAATATAT ATATATATGGAATATATATATATATGGAATATATATATATATGGAATATA TATATATATGGAATATATATATATATGGAATATATATATATATGGAATAT ATATATATATGGAATATATATATATATGGAATATATATATATATGGAATA TATATATATATGGAATATATATATATATGGAATATATATATATATGGAAT ATATATATATGGAATATATATATATATGGAATATATATATATATGGAATA TATATATATATGGAATATATATATATATGGAATATATATATATGGAATAT ATATATATATGGAATATATATATATATGGAATATATATATATATGGAATA TATATATATATGGAATATATATATATATGGAATATATATATATATGGAAT ATATATATATATGGAATATATATATATATGGAATATATATATATATGGAA TATATATATATATGGAATATATATATATATGGAATATATATATATATGGA ATATATATATATATGGAATATATATATATATGGAATATATATATATATGG AATATATATATATATGGAATATATATATATATGGAATATATATATATATG GAATATATATATATATGGAATATATATATATATGGAATATATATATATAT GGAATATATATATATATGGAATATATATATATATGGAATATATATATATA TGGAATATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SENP7_chr3_101319205_101518212	101439999	C C	CGCCTCTG others(739): Show CGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCGGCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCGGCCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCGGCCCCCCACCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGGGGGGTCGGCCCCCC CTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCTGT CCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCCGGCCAGACGCCCCGTCCGGGAGGGGAGGTGGGGGGGGG GTCGGCCCCCCTGCCTGGCCAGCTGCCCCGTCCGGGAGGTGAGGGGT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0162 a0001c0003t0002g0162	1	370	0.0027	746	c.284 others(765): Show c.284+18955_284+18956insACCCCTCACCTCCCGGACGGGGCAGC TGGCCAGGCAGGGGGGCCGACCCCCCCCCCACCTCCCCTCCCGGACGGGG CGTCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGGCTG ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGCGGCTGGCCGGGCAGGGGGGGCCGACCCCCCCCCCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCCGACCCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGC	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	4/23			chr3	TogoVar
SMIM47_chr19_50780728_50791160	50784590	G G	GGGAGGGA others(739): Show GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGAGGGG GGAGGGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGGG AGGTGAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAGG AGGGGAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAGG GGGAAGGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGGA GGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGAG GGAGGGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGG AGGAGGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGAGGGGGAGGGGGAG GAGGGAGGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGGGGGG GAGGAGGGAGGGGGAGGGGAGGGGAAGGGGGAGGAGGGAGGGGAGGGGAG GGGAAGGGGGGAAGGGGAAGGGGGAGGAGGGAGGGGGAGGGGAGGCGAAG GGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGGGGGAGGGGGAAG GGGGAAGGGGGAGGAGGGAGGGGAGAGGGGGAAGGGGGAAGGGGGAGGAG GGAGGGGAGAGGGGGAAGGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAG GGGGAGGGGGAGAGGGGAGAGGAGGGGGAGGGGGAGGGGTGGCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	352	0.0028	746	c.12 others(757): Show c.1221_*1222insTCCCGCCACCCCTCCCCCTCCCCCTCCTCTCCCC TCTCCCCCTCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTCC CCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTCCCCCTCTCCCCTCCCTC CTCCCCCTTCCCCCTTCCCCCTCCCCCTCCCTCCTCCCCTCCCCTCTCCC CTCCCTCCTCCCCCTTCGCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCC TTCCCCCCTTCCCCTCCCCTCCCCTCCCTCCTCCCCCTTCCCCTCCCCTC CCCCTCCCTCCTCCCCCCCCTCCCCCTTCCCCTTCCCCCCTTCCCCTCCC CTCCCCCTCCCTCCTCCCCCTCCCCCTCCCCTCCCTCCTCCCCCTCCCCC TCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCAT CCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCCTCCC CTCCCCCTCCCCCTCCCCTTCCCCTCCTCTGCCCTCCCCTCCCCTCTCCC CGTCCCCCTTCCCCCTCCCCTCTCCTCTCCTCCTCACCCCTCCTCTCCCC TCTCCCTTCCCCTCCTCTGCCCTCCCCTCCCTCCTCCCCCTCTCCCCTCC TCTGCCCTCACCTCCCTCCTCCCCCTCTCCCCTCCCTGCCCTGCCCTCCC CTCCCCACCCTCCCCCCTCCCTTCCCCTTCCTTCCTCCCTCCCTCCCTCC CTCCCTCCCTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1137		chr19	TogoVar
SNRNP35_chr12_123453139_123471936	123453160	A A	ATATATAT others(739): Show ATATATATATAAATATATATAAAAATATATAAAAATATATATAAATATAT ATAAATATATATAAATATATAAATATATATAAATATATATAAATATATAT AAATATATATATAAATATATAAATATATATAAATATATATATAAATATAT AAAAATATATATAAATATATATAAATATATATAAATATATATATAAATAT ATATAAATATATATATAAATATATAAAAATATATATAAATATATATAAAT ATATATATAAATATATATAAATATATATAAATATATATATAAATATATAT AAATATATATAAATATATATAAATATATATAAATATATATAAATGTATAT ATAAATATATATATAAATATATATAAATATATATAACTATATATATAAAT ATATATATAACTATATATAAATATATATATAAATATATATAAATATATAT ATAAATATATATAAATATATATATAAATATATATAAATATATATATAAAT ATATATATAAATATATATAAATATATATATAAATATATATAAATATATAT AAATATATAAAAAATATATATAAATATATAAATATATAAAAAATATATAT AAATATATATAAATATATATAAATATATATATAAATATATAAAAAAATAT ATATATATAAAAATATATATAAATATATAAAAATATATTTATATATATAA ATATATTTATATATAAATATAAATATATATAAATATATAAATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp1 HG03492.hp2 HG03490.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0011 a0001c0001t0002g0005 a0001c0001t0002g0011	2	186	0.0108	746	c.-50 others(757): Show c.-5060_-5059insTATATATATAAATATATATAAAAATATATAAAAA TATATATAAATATATATAAATATATATAAATATATAAATATATATAAATA TATATAAATATATATAAATATATATATAAATATATAAATATATATAAATA TATATATAAATATATAAAAATATATATAAATATATATAAATATATATAAA TATATATATAAATATATATAAATATATATATAAATATATAAAAATATATA TAAATATATATAAATATATATATAAATATATATAAATATATATAAATATA TATATAAATATATATAAATATATATAAATATATATAAATATATATAAATA TATATAAATGTATATATAAATATATATATAAATATATATAAATATATATA ACTATATATATAAATATATATATAACTATATATAAATATATATATAAATA TATATAAATATATATATAAATATATATAAATATATATATAAATATATATA AATATATATATAAATATATATATAAATATATATAAATATATATATAAATA TATATAAATATATATAAATATATAAAAAATATATATAAATATATAAATAT ATAAAAAATATATATAAATATATATAAATATATATAAATATATATATAAA TATATAAAAAAATATATATATATAAAAATATATATAAATATATAAAAATA TATTTATATATATAAATATATTTATATATAAATATAAATATATATAAATA TATAAATATATT	SNRNP35	ENSG00000184209.15	transcript	ENST00000526639.3	protein_coding		4978		chr12	TogoVar
TERT_chr5_1248167_1300068	1273733	C C	CCACATCA others(739): Show CCACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCAC GACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACA GTCACCACACATCAGACCCCACGACTGCCATCCACAGTCACCACACATCA GACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGC CATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCAC ATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACC GCCATCCACAGTCACCACATCAGACCCTACGACCGCCATCCACAGTCACC ACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGA CCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCA CCACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCC ACGACTGCCATCCACAGTCACCACACATCAGACCCCTGTGACCGATCACC ATCCACAGTCACCACACATCAGACCCCACGACTGCCATCCACAGTCACCA CACATCAGACCCCACGACTGCCATCCACAGTCACCACATCAGACCCCACG ACCGCCATCCACAGTCACCACACATCAGACCCCACGACTGCCATCCACAG TCACCACACATCAGACCCCTGTGACCGATCACCATCCACAGTCACCA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0218 a0001c0001t0002g0218	1	392	0.0026	746	c.228 others(765): Show c.2287-1454_2287-1453insTGGTGACTGTGGATGGTGATCGGTCA CAGGGGTCTGATGTGTGGTGACTGTGGATGGCAGTCGTGGGGTCTGATGT GTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATG GCAGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCAGTCGTGGGGTC TGATGTGTGGTGACTGTGGATGGTGATCGGTCACAGGGGTCTGATGTGTG GTGACTGTGGATGGCAGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGG CGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGA TGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGAT GGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTAGGGTCT GATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGG ATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGT CTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACT GTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCAGTCG TGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTG TGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGG CGGTCGTGGGGTCTGATGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TGM2_chr20_38122385_38170270	38123656	A A	AGATAGTA others(739): Show AGATAGTAGATAGATAGAGTATTGTTAGTGAGAGTTGTATAGTTGTGTGA TAGGTATTAGATAGAGATGTAGGAGTTGTTGTTGTGTGTGGTAGTGAGTG TGTGTGACTGAGTGTTGTGATATAGTATACTTGAGACCTAGTTAAACTGA GTGGTGACTATGTGTAATAGTTTAAGACCTGATGTGTATAAGAGTACCGT TGAGTAGTAGTATAGGATACCGAGGATGTGTGTAGATGTACAGATGGCCT GTGTGTTGTGTAAGTAGGTGTAGAGTAAGAGTAGTATATTAGTGATTGAG TACAGTAGTTAGTATATATAATATACCTATTATATATATAATGTCTAGTT AGTAGTGAGTGATGTTCTGAGTAGTGACAGTGAGTTAGTAGTATAGATAG TACGTAGTGTGATAGATGTAAAGTGAGACCTAGTAGATAGTAATGAGTAC CGTATTGCAGTATATATAAGATACCTAGTATAGTGCAGTGTAGATAGTAA GTGAGACCTTGATATGCATTATAGTAGTAAGTAGTACGCTGGTGAGTGTA TGTAGGAGGTGTGGATGGATGTGAGTTGTGTAAGCAGGTGTGGGATGGTG ATTTGATGATGGTGAGTGATATGAAGATGATTGAGATGAGTGAGATATGA GTATGTAGTTATATATTATGATGTATTATATATTATATATTAGATGAGAG TGTGGAAAGTATGTATGGTATTTATTATAGTAGATATACATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0002 a0005c0010t0002	a0005c0010t0002g0264 a0005c0010t0002g0264	1	360	0.0028	746	c.65 others(757): Show c.6562_*6563insATATATATGTATATCTACTATAATAAATACCATA CATACTTTCCACACTCTCATCTAATATATAATATATAATACATCATAATA TATAACTACATACTCATATCTCACTCATCTCAATCATCTTCATATCACTC ACCATCATCAAATCACCATCCCACACCTGCTTACACAACTCACATCCATC CACACCTCCTACATACACTCACCAGCGTACTACTTACTACTATAATGCAT ATCAAGGTCTCACTTACTATCTACACTGCACTATACTAGGTATCTTATAT ATACTGCAATACGGTACTCATTACTATCTACTAGGTCTCACTTTACATCT ATCACACTACGTACTATCTATACTACTAACTCACTGTCACTACTCAGAAC ATCACTCACTACTAACTAGACATTATATATATAATAGGTATATTATATAT ACTAACTACTGTACTCAATCACTAATATACTACTCTTACTCTACACCTAC TTACACAACACACAGGCCATCTGTACATCTACACACATCCTCGGTATCCT ATACTACTACTCAACGGTACTCTTATACACATCAGGTCTTAAACTATTAC ACATAGTCACCACTCAGTTTAACTAGGTCTCAAGTATACTATATCACAAC ACTCAGTCACACACACTCACTACCACACACAACAACAACTCCTACATCTC TATCTAATACCTATCACACAACTATACAACTCTCACTAACAATACTCTAT CTATCTACTATC	TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding		3728		chr20	TogoVar

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