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
GSE1_chr16_85608322_85681200	85653201	C C	CCCTCCCC others(349): Show CCCTCCCCCTCCCCCCTCCTCCTCCCCCCTCCCACTCCTCCCCACTCCTC CCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCCCCCCCCTCCC CCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTC CTCCTCCCCCCCCTCCTCCCCCCTCCTCCTCCCCCCCCTCCTCCCCCCCT CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTC CCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCT CCTCCTCCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCC TCCTCCT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0079 a0001c0002t0005g0079	1	290	0.0035	356	c.427 others(373): Show c.427-1072_427-1071insCCCTCCCCCCTCCTCCTCCCCCCTCCCA CTCCTCCCCACTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCC CCCTCCCCCCCCTCCCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCC CTCCTCCTCCCCCCTCCTCCTCCCCCCCCTCCTCCCCCCTCCTCCTCCCC CCCCTCCTCCCCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CCCCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCT CCTCCTCCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCTCCTCC TCCTCCTCCCCCCTCCTCCTCCTCCTCC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
GSE1_chr16_85608322_85681200	85653201	C C	CCCTCCCC others(349): Show CCCTCCCCCTCCTCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCCACTC CTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCCCCCCCCT CCTCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCCCCCCCCCTCCTCCCCC CTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCC CCCCCTCCTCCCCCCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCCC CCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCT CCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCC TCCTCCT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	290	0.0035	356	c.427 others(373): Show c.427-1072_427-1071insCCCTCCTCCCTCCTCCTCCCCCCTCCTC CTCCCCCCTCCCACTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCC CCCCCCTCCCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCC CCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCT CCCCCCTCCTCCTCCCCCCCCTCCTCCCCCCCCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCT CCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCC TCCTCCTCCTCCCCCCTCCTCCTCCTCC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
HECTD4_chr12_112155195_112387431	112339310	C C	CAAGAAAA others(349): Show CAAGAAAATGCAAGTCACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAGAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0027 a0001c0001t0003g0027	1	270	0.0037	356	c.178 others(375): Show c.178-19569_178-19568insTTTTTTTTTTTCTTTTTTTTCTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCGTGACTTGCATTTTCTT	HECTD4	ENSG00000173064.14	transcript	ENST00000682272.1	protein_coding	1/75			chr12	TogoVar
IBTK_chr6_82164987_82252744	82191722	A A	AGTCTGTC others(349): Show AGTCTGTCCAATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTA TTTTTATTTATTTTTATTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGACTACA GGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCC GCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGCC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0003 a0003c0006t0003	a0003c0006t0003g0171 a0003c0006t0003g0171	1	296	0.0034	356	c.343 others(371): Show c.3431+64_3431+65insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCCGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAATAAAAATAAATAAAAATAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAGAATTGGACAGAC	IBTK	ENSG00000005700.15	transcript	ENST00000306270.12	protein_coding	24/28			chr6	TogoVar
IFNAR1_chr21_33319970_33364864	33323303	G G	GAATATAT others(349): Show GAATATATAGATGGAATGTATATATATGGAATGTATAGATGGAATGTATA TATATGGAATGTATAGATGGAATGTATATATATGGAATGTATAGATGGAA TGTATATATATGGAATGTATAGATGGAATGTATATATATGGAATGTATAG ATGGAATGTATATATATGGAATGTATAGATGGAATGTATATATGGAATGT ATAGATGGAATGTATATATGGAATGTATAGATGGAATGTATATATGGAAT GTATATATGGAATGTATATATGGAATGTATATATGGAATGTATATATGGA ATGTATATATGGAATATATATATGGAATATATATATATATGGAATATATA TATGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0100 a0001c0001t0015g0100	1	323	0.0031	356	c.-17 others(367): Show c.-1753_-1752insAATATATAGATGGAATGTATATATATGGAATGTA TAGATGGAATGTATATATATGGAATGTATAGATGGAATGTATATATATGG AATGTATAGATGGAATGTATATATATGGAATGTATAGATGGAATGTATAT ATATGGAATGTATAGATGGAATGTATATATATGGAATGTATAGATGGAAT GTATATATGGAATGTATAGATGGAATGTATATATGGAATGTATAGATGGA ATGTATATATGGAATGTATATATGGAATGTATATATGGAATGTATATATG GAATGTATATATGGAATGTATATATGGAATATATATATGGAATATATATA TATATGGAATATATATATGGAA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1666		chr21	TogoVar
IQCA1_chr2_236319151_236512476	236358427	T T	TCATATAT others(349): Show TCATATATAAATATATATGATATATGAATATCATATATAAATATATATGA TATATGAATATCATATATAAATATATATGATATATGAATATCATATATAA ATATATATGATATATGAATATCATATATAAATATATATGATATATGAATA TCATATATAAATATATATGATATATGAATATCATATATAAATATATATGA TATATGAATATCATATATAAATATATATGATATATGAATATCATATATAA ATATATATGATATATGAATATCATATATAAATATATATGATATATGAATA TCATATATAAATATATATGATATATGAATATCATATATAAATATATATGA TATATGA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0106 a0001c0019t0001g0106	1	208	0.0048	356	c.186 others(375): Show c.1869+5352_1869+5353insTCATATATCATATATATTTATATATG ATATTCATATATCATATATATTTATATATGATATTCATATATCATATATA TTTATATATGATATTCATATATCATATATATTTATATATGATATTCATAT ATCATATATATTTATATATGATATTCATATATCATATATATTTATATATG ATATTCATATATCATATATATTTATATATGATATTCATATATCATATATA TTTATATATGATATTCATATATCATATATATTTATATATGATATTCATAT ATCATATATATTTATATATGATATTCATATATCATATATATTTATATATG ATATTCATATATCATATATATTTATATATG	IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	15/18			chr2	TogoVar
IQSEC3_chr12_61767_183455	103462	A A	AGAGGCAG others(349): Show AGAGGCAGGGCTCAGGAGGGGAGGCGGGGCTCGGGGGGTAGGTGGGGGCT CAGGAGGGGAGGTGGGACTCAGGAGGGAGAGGTGGAGTTCAGTGGGGAGG CAGGGCTCAGGGGGAGGTGGGGGCTCAGGAGGGGAGGTGGGGCTCAGGAG GGAGAGGTGGAGTTCAGGGGGGAGGCGGGGCTCAGGAGGGAGAGGTGGAG TTCGGTGGGGAGGCAGGGCTCAGGGGTAGGTGGGGGCTCAGGAGGGGAGG TGGGACTCAGGAGGGAGAGGTGGAGTTCGGGGGGAGGCAGGGCTGGGGGG AGGTGGGGGCTCAGGAGGGGAGGTGGGGCTCAGGCAGGAGAGGTGGAGTT CAGGGGG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00642.hp2 HG00323.hp2 HG00642.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0002c0001 a0001c0006 a0002c0001	a0001c0006t0002 a0002c0001t0003 a0001c0006t0002 a0002c0001t0003	a0001c0006t0002g0145 a0002c0001t0003g0216 a0001c0006t0002g0145 a0002c0001t0003g0216	2	282	0.0071	356	c.623 others(373): Show c.623+4253_623+4254insAGGGCTCAGGAGGGGAGGCGGGGCTCGG GGGGTAGGTGGGGGCTCAGGAGGGGAGGTGGGACTCAGGAGGGAGAGGTG GAGTTCAGTGGGGAGGCAGGGCTCAGGGGGAGGTGGGGGCTCAGGAGGGG AGGTGGGGCTCAGGAGGGAGAGGTGGAGTTCAGGGGGGAGGCGGGGCTCA GGAGGGAGAGGTGGAGTTCGGTGGGGAGGCAGGGCTCAGGGGTAGGTGGG GGCTCAGGAGGGGAGGTGGGACTCAGGAGGGAGAGGTGGAGTTCGGGGGG AGGCAGGGCTGGGGGGAGGTGGGGGCTCAGGAGGGGAGGTGGGGCTCAGG CAGGAGAGGTGGAGTTCAGGGGGGAGGC	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
JAK1_chr1_64828229_64971549	64881262	T T	TAAAAAAT others(349): Show TAAAAAATATTAAAATTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCTG AGATCGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA20805.hp2 NA18965.hp1 NA20805.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0248 a0001c0003t0001g0250 a0001c0003t0001g0248 a0001c0003t0001g0250	2	326	0.0061	356	c.205 others(373): Show c.205+2014_205+2015insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CCGGACTGCGGACTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACT ACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGA TCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCCAAAATTTTAATATTTTTT	JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding	3/24			chr1	TogoVar
JSRP1_chr19_2247252_2261417	2254895	A A	AAATAATA others(349): Show AAATAATAATAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA TAATAAT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	436	0.0023	356	c.109 others(371): Show c.109+310_109+311insATTATTATTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCCTATTATTATT	JSRP1	ENSG00000167476.10	transcript	ENST00000300961.10	protein_coding	2/6			chr19	TogoVar
KAZN_chr1_14593685_15123043	14652496	C C	CATCCACC others(349): Show CATCCACCCACCCACCCGCCCATCCACCTATCCACCTATCTACCTATCCG CCTATCCATCCACCCACCCACCCATCCATCTGCCTATACATCCACCCACC CACCCACCCACCTGTCCATCCACCCACCCACCCACCCATCCCCCTCTCCA TCCACCCACCCACCCACCCACCCATCCGCCTGTCCATCCACCCACCCACC CACCCATCCACCTGTCCATCCACCCACCCACCCACCCATCCACCTATCCA TCCACCCACCCACCCATCCACCTGTCCATCCATCCACCCACCCACCCATC CACCTATCCATCCACCCACCCACCCTTCCACCTGTCCATCCACCCACCCA CCCATTT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0130 a0001c0001t0002g0130	1	146	0.0069	356	c.226 others(375): Show c.226+53274_226+53275insTCCACCCACCCACCCGCCCATCCACC TATCCACCTATCTACCTATCCGCCTATCCATCCACCCACCCACCCATCCA TCTGCCTATACATCCACCCACCCACCCACCCACCTGTCCATCCACCCACC CACCCACCCATCCCCCTCTCCATCCACCCACCCACCCACCCACCCATCCG CCTGTCCATCCACCCACCCACCCACCCATCCACCTGTCCATCCACCCACC CACCCACCCATCCACCTATCCATCCACCCACCCACCCATCCACCTGTCCA TCCATCCACCCACCCACCCATCCACCTATCCATCCACCCACCCACCCTTC CACCTGTCCATCCACCCACCCACCCATTTA	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCTD21_chr11_78166249_78193626	78179983	C C	CAAAATGC others(349): Show CAAAATGCAGATCAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0096 a0001c0001t0005g0096	1	430	0.0023	356	c.-29 others(373): Show c.-29-5401_-29-5400insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTC CGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTC ATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCCCTGATCTGCATTTT	KCTD21	ENSG00000188997.8	transcript	ENST00000340067.4	protein_coding	1/1			chr11	TogoVar
KIAA1549L_chr11_33371108_33679102	33403290	C C	CACGCAGA others(349): Show CACGCAGACACACAGACACGCAGACACAGATACACATACAGACATACACA CAGGGACACACACAGAGACCCAGGGACACACACACACAGACACACAGACA TAGACATATGCAGACACACACAGACACACACATGCAGACACAGACACACA TGGACACACACATGCAGACACGCGGACAGACACACACAGACACAGAGACA CACACGCAGACAGAGACACAGACATACACAGAGACCCAGGGACACACACA CACACATATGCAGACACACAGAAACACACAGACACACATAGACACATGCA CACACACATGCAGACACACACAGACACACACAGACACATGCACACACATG CAGACAG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0073 a0001c0073	a0001c0073t0002 a0001c0073t0002	a0001c0073t0002g0199 a0001c0073t0002g0199	1	226	0.0044	356	c.238 others(375): Show c.238+26403_238+26404insGCAGACACACAGACACGCAGACACAG ATACACATACAGACATACACACAGGGACACACACAGAGACCCAGGGACAC ACACACACAGACACACAGACATAGACATATGCAGACACACACAGACACAC ACATGCAGACACAGACACACATGGACACACACATGCAGACACGCGGACAG ACACACACAGACACAGAGACACACACGCAGACAGAGACACAGACATACAC AGAGACCCAGGGACACACACACACACATATGCAGACACACAGAAACACAC AGACACACATAGACACATGCACACACACATGCAGACACACACAGACACAC ACAGACACATGCACACACATGCAGACAGAC	KIAA1549L	ENSG00000110427.17	transcript	ENST00000658780.2	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
KIAA1549L_chr11_33371108_33679102	33403301	G G	GCAGACAC others(349): Show GCAGACACACAGACACGCAGACACAGATACACATACAGACATACACACAG GGACACACACAGACTCAGGGACACACACACACAGACACACAGACATAGAC ATATGCAGACACACACAGACACACACATGCAGACACAGACACACATGGAC ACACACATGCAGACACGCGGACAGACACACACAGACACAGAGACACACAC GCAGACAGAGACACAGACATACACAGAGACCCAGGGACACACACACACAC ATATGCAGACACACAGAAACACACAGACACACATAGACACATGCACACAC ACATGCAGACACAGACACACACAGACACATGCACACACATGCAGACAGAC ACACGGA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0007 a0001c0014t0007	a0001c0014t0007g0208 a0001c0014t0007g0208	1	226	0.0044	356	c.238 others(375): Show c.238+26414_238+26415insGACACACAGACACGCAGACACAGATA CACATACAGACATACACACAGGGACACACACAGACTCAGGGACACACACA CACAGACACACAGACATAGACATATGCAGACACACACAGACACACACATG CAGACACAGACACACATGGACACACACATGCAGACACGCGGACAGACACA CACAGACACAGAGACACACACGCAGACAGAGACACAGACATACACAGAGA CCCAGGGACACACACACACACATATGCAGACACACAGAAACACACAGACA CACATAGACACATGCACACACACATGCAGACACAGACACACACAGACACA TGCACACACATGCAGACAGACACACGGACA	KIAA1549L	ENSG00000110427.17	transcript	ENST00000658780.2	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
KIF3B_chr20_32272651_32340011	32322993	C C	CATTTATA others(349): Show CATTTATATATACATTTATATATACATATTTATATATATTTATATATATT TATAGATATATATTTATAGATATATATTTATATATATTTATTTATATTTA TATATATATTTATATATATTTATTTACATTTATATTTATATTTATATTTA TTTATATTTATATATATTTATATATTTATATATATTTATATATATTTATA TATATTTATATATATATTTATATATTTATATATATTTATATATATTTATA TATATATTTATATATTTATATATATTTATATTTATATATTTATATATATT TATATTTCTATTTATTTATATATATTTATATTTATTTATATTTATATATT AATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0040 a0001c0002t0004g0040	1	242	0.0041	356	c.174 others(375): Show c.1749-3776_1749-3775insTTATATATACATTTATATATACATAT TTATATATATTTATATATATTTATAGATATATATTTATAGATATATATTT ATATATATTTATTTATATTTATATATATATTTATATATATTTATTTACAT TTATATTTATATTTATATTTATTTATATTTATATATATTTATATATTTAT ATATATTTATATATATTTATATATATTTATATATATATTTATATATTTAT ATATATTTATATATATTTATATATATATTTATATATTTATATATATTTAT ATTTATATATTTATATATATTTATATTTCTATTTATTTATATATATTTAT ATTTATTTATATTTATATATTAATATATAT	KIF3B	ENSG00000101350.8	transcript	ENST00000375712.4	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr20	TogoVar
KIF3B_chr20_32272651_32340011	32322993	C C	CATTTATA others(349): Show CATTTATATATACATTTATATATACATATTTATATATATTTATATATATT TATAGATATATATTTATAGATATATATTTATATATATTTATTTATATTTA TATATATATTTATATATATTTATTTATATTTATATTTATATTTATATTTA TTTATATTTATATATATTTATATATTTATATATATTTATATATATTTATA TATATTTATATATATATTTATATATTTATATATATTTATATATATTTATA TATATATTTATATATTTATATATATTTATATTTATATATTTATATATATT TATATTTCTATTTATTTATATATATTTATATTTATTTATATTTATATATT AATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03130.hp1 HG03516.hp1 others(4): Show HG02451.hp1 HG03130.hp1 HG03516.hp1 HG03516.hp2 NA18950.hp2 NA18980.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0041 a0001c0002t0004g0042 a0001c0002t0004g0053 others(4): Show a0001c0002t0004g0041 a0001c0002t0004g0042 a0001c0002t0004g0053 a0001c0002t0004g0055 a0001c0002t0004g0056 a0001c0002t0004g0071 a0001c0002t0004g0074	7	242	0.0289	356	c.174 others(375): Show c.1749-3776_1749-3775insTTATATATACATTTATATATACATAT TTATATATATTTATATATATTTATAGATATATATTTATAGATATATATTT ATATATATTTATTTATATTTATATATATATTTATATATATTTATTTATAT TTATATTTATATTTATATTTATTTATATTTATATATATTTATATATTTAT ATATATTTATATATATTTATATATATTTATATATATATTTATATATTTAT ATATATTTATATATATTTATATATATATTTATATATTTATATATATTTAT ATTTATATATTTATATATATTTATATTTCTATTTATTTATATATATTTAT ATTTATTTATATTTATATATTAATATATAT	KIF3B	ENSG00000101350.8	transcript	ENST00000375712.4	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr20	TogoVar
KLHDC4_chr16_87702812_87770986	87738913	C C	CCCACACA others(349): Show CCCACACACCAGCACCTCATCCACACACCAGCACCTCATCCATCCACACA CCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAG CATCTCATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCACC TCATCCACCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCAT CCACCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCAC ACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCACCCACACAC CAGCACCTCATCCATCCACACACCAGCACCTCATCCACACACCAGCACCT CATCCAT	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0279	1	380	0.0026	356	c.507 others(373): Show c.507-8270_507-8269insATGGATGAGGTGCTGGTGTGTGGATGAG GTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGC TGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGAGGTGCTGGTGTGT GGATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGAT GGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGGTGGAT GAGGTGCTGGTGTGTGGATGGATGAGATGCTGGTGTGTGGATGGATGAGG TGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCT GGTGTGTGGATGAGGTGCTGGTGTGTGG	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	5/11			chr16	TogoVar
KLHDC4_chr16_87702812_87770986	87738913	C C	CCCACACA others(349): Show CCCACACACCAGCACCTCATCCACACACCAGCACCTCATCCATCCACACA CCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAG CATCTCATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCACC TCATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCAT CCATCCACACACCAGCACCTCATCCACACACCAGCACCTCATCCATCCAC ACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCACCCACACAC CAGCACCTCATCCATCCACACACCAGCACCTCATCCACACACCAGCACCT CATCCAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01169.hp2 HG01975.hp1 others(1): Show HG00438.hp1 HG01169.hp2 HG01975.hp1 HG03834.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0205 a0002c0002t0001g0211 a0002c0002t0002g0156 others(1): Show a0002c0002t0001g0205 a0002c0002t0001g0211 a0002c0002t0002g0156 a0002c0002t0002g0163	4	380	0.0105	356	c.507 others(373): Show c.507-8270_507-8269insATGGATGAGGTGCTGGTGTGTGGATGAG GTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGC TGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGT GTGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGT GGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGAT GAGGTGCTGGTGTGTGGATGGATGAGATGCTGGTGTGTGGATGGATGAGG TGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCT GGTGTGTGGATGAGGTGCTGGTGTGTGG	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	5/11			chr16	TogoVar
KNSTRN_chr15_40377721_40399288	40386235	A A	AAATAATA others(349): Show AAATAATACTTTTTATTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCG GACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACA GGCTCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTCTAGTAGAGACGG GGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCC ACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGCC	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	374	0.0027	356	c.305 others(371): Show c.305-113_305-112insTTTATTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCG CTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGA CTACAGGCTCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTCTAGTAGA GACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCAT GATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCCAATAATACTTTTTA	KNSTRN	ENSG00000128944.14	transcript	ENST00000249776.13	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
LDAH_chr2_20679031_20828101	20738361	T T	TCTCCATA others(349): Show TCTCCATATATATATATATATATATATATATATATATATATATATATATA TATATTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCTCTCTGTCGCC CAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACA GGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCC GCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGCC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0067 a0001c0001t0003g0067	1	258	0.0039	356	c.703 others(373): Show c.703+1609_703+1610insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGAGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATAT ATATATATATATATATATATATATGGAG	LDAH	ENSG00000118961.15	transcript	ENST00000237822.8	protein_coding	5/6			chr2	TogoVar
LGALS16_chr19_39650913_39665647	39663851	T T	TATATATG others(349): Show TATATATGTATGTATATATACACATATATATGTATGTATATATACACATA TATATGTATGTATATATACACATATATATGTATGTATATATACACATATA TATGTATGTATATATACACATATATATGTATGTATATATACACATATATA TGTATGTATATATACACATATATATGTATGTATATATACACATATATATG TATGTATATATACACATATATATGTATGTATATATACACATATATATGTA TGTATATATACACATATATATGTATGTATATATACACATATATATGTATG TATATATACACATATATATGTATGTATATATACACATATATATGTATGTA TATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	442	0.0023	356	c.33 others(367): Show c.3331_*3332insATATATGTATGTATATATACACATATATATGTAT GTATATATACACATATATATGTATGTATATATACACATATATATGTATGT ATATATACACATATATATGTATGTATATATACACATATATATGTATGTAT ATATACACATATATATGTATGTATATATACACATATATATGTATGTATAT ATACACATATATATGTATGTATATATACACATATATATGTATGTATATAT ACACATATATATGTATGTATATATACACATATATATGTATGTATATATAC ACATATATATGTATGTATATATACACATATATATGTATGTATATATACAC ATATATATGTATGTATATATAC	LGALS16	ENSG00000249861.4	transcript	ENST00000392051.4	protein_coding		3205		chr19	TogoVar
LMF1_chr16_848634_975984	857521	G G	GCAGTGGT others(349): Show GCAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAG TGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGG TGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGCGTGTGCAGTGGTG TCACGGGACGCGTGTGCAGTGGTGTCACGGGACGCGTGTGCAGTGGTGTC ACGGGACGCGTGTGCAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCACG GGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGATGTCTCGGGA CGGGTGTGCACTGATGTCTCGGGACGGGTGTGCACTGATGTCACGGGACG GGTGTGC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0049 a0001c0002t0001g0049	1	294	0.0034	356	c.153 others(375): Show c.1530-2816_1530-2815insGCACACCCGTCCCGTGACATCAGTGC ACACCCGTCCCGAGACATCAGTGCACACCCGTCCCGAGACATCACTGCAC ACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACACCACTCACACCC GTCCCGTGACACCACTGCACACGCGTCCCGTGACACCACTGCACACGCGT CCCGTGACACCACTGCACACGCGTCCCGTGACACCACTGCACACGCGTCC CGTGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCG AGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGAC ACCACTCACACCCGTCCCGTGACACCACTG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
MAP3K15_chrX_19355059_19520508	19477974	A A	AGAGAGGG others(349): Show AGAGAGGGAGGGAGGGGTGGGGAGAGAGAGAGAGAGGGAGGGAGGGATGG GGGAGAGAGAGGGGAGAGGGGAGGGAGAGGGGGGAGAGGGAGGAGAGAGG GGGGAGAGGGGGAGAGAGGGGGGAGATGGGGGAGAGGGGGGAGATGGGGG AGAGGGGGAGAGGGGGGAGAGGGGGGAGGGGGGGAGAGGGGGAGAGGGGG AGAGGGGGAGAGGGGGAGAGGGGGAGAGGGGGGAGAGGGGGGAGAGGGGG AGGGGGGAGAGGGGGAGAGGGGGAGAGGGGGGAGAGAGGTGGGGGAGAGG GGGGAGAGAGGTGGGGGAGAGGGGGGAGAGAGGTGGGGGAGAGGGGGGAG AGAGGTG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0130 a0002c0002t0007g0130	1	163	0.0061	356	c.525 others(373): Show c.525+8507_525+8508insCACCTCTCTCCCCCCTCTCCCCCACCTC TCTCCCCCCTCTCCCCCACCTCTCTCCCCCCTCTCCCCCACCTCTCTCCC CCCTCTCCCCCTCTCCCCCTCTCCCCCCTCCCCCTCTCCCCCCTCTCCCC CCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCC CCTCCCCCCTCTCCCCCCTCTCCCCCTCTCCCCCATCTCCCCCCTCTCCC CCATCTCCCCCCTCTCTCCCCCTCTCCCCCCTCTCTCCTCCCTCTCCCCC CTCTCCCTCCCCTCTCCCCTCTCTCTCCCCCATCCCTCCCTCCCTCTCTC TCTCTCTCCCCACCCCTCCCTCCCTCTC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MEI4_chr6_77648039_77932045	77814797	T T	TTAAATAT others(349): Show TTAAATATTTAAACTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACA GGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGGCGG GGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCC GCCCGCCTCGGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGCCACCGCG CCCGGCC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0211 a0001c0001t0006g0211	1	360	0.0028	356	c.769 others(375): Show c.769-14117_769-14116insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGGCGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGCC ACCGCGCCCGGCCTAAATATTTAAACTCTT	MEI4	ENSG00000269964.4	transcript	ENST00000684080.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
METRNL_chr17_83074609_83100122	83090368	G G	GCCACACA others(349): Show GCCACACACACACACCCCCCCACACACACACCCCGCCCCACACACACACC CCCCGCCCCACACACACACACCCCGCCCCACACACACACCCCCCGCCCCA CACACACACACCCCGCCCCACACACACACCCCCCGCCCCACACACACACA CACCCCCGCCCCACACACACACACCCCCCGCCCCACACACACACCCCCCG CCCCACACACACACACACCCCCGCCCCACACACACACCCCCCGCCCCACA CACACACACACCCCCCGCCCCACACACACACACCCCCCGCCCCACACACA CACACCCCCCGCCCCACACACACACACCCCCCGCCCCACACACACACACC CCCCGCC	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03834.hp2 HG03017.hp1 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0034 a0001c0001t0001g0019 a0001c0001t0001g0034	2	399	0.0050	356	c.557 others(373): Show c.557-2785_557-2784insCCCCCCACACACACACCCCGCCCCACAC ACACACCCCCCGCCCCACACACACACACCCCGCCCCACACACACACCCCC CGCCCCACACACACACACCCCGCCCCACACACACACCCCCCGCCCCACAC ACACACACACCCCCGCCCCACACACACACACCCCCCGCCCCACACACACA CCCCCCGCCCCACACACACACACACCCCCGCCCCACACACACACCCCCCG CCCCACACACACACACACCCCCCGCCCCACACACACACACCCCCCGCCCC ACACACACACACCCCCCGCCCCACACACACACACCCCCCGCCCCACACAC ACACACCCCCCGCCCCACACACACACAC	METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
MIGA1_chr1_77774649_77884540	77870084	C C	CGGGGGGC others(349): Show CGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGACTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCCCCAC CTCCCTCCCGGTCGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCGCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGATGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACTGGGCGGCTG GCCGGGT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0248 a0001c0001t0003g0248	1	280	0.0036	356	c.146 others(375): Show c.1468-2797_1468-2796insAGGCGGGGGGCTGACCCCCCCCCCAC CTCCCTCCCGGTCGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCGCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGATGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACTGGGCGGCTG GCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGACTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAG CCCCTCACCTCCCGGACGGGGCGGCTGGCC	MIGA1	ENSG00000180488.17	transcript	ENST00000370791.9	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
MROH9_chr1_170930534_171069765	170994904	T T	TAAGATTA others(349): Show TAAGATTATAGCCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0004 a0003c0006t0004	a0003c0006t0004g0138 a0003c0006t0004g0138	1	226	0.0044	356	c.119 others(373): Show c.1195-470_1195-469insGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCG AGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGC CGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAGATTATAGCCCAG	MROH9	ENSG00000117501.15	transcript	ENST00000367759.9	protein_coding	12/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
MS4A4E_chr11_60195270_60248137	60206479	A A	ATATATAT others(349): Show ATATATATATGTATATATATATATGTATATATATATGTATATATATATGT ATATATATGTATATATATGTATATATATGTATATATATGTGTATATATGT ATATATATGTATATATATGTATATATATATGTGTATATATATGTATATAT ATGTATATATATGTGTATATATATGTATATATATGTATATATATGTATAT ATATGTATATATATGTATATATATGTATATATATGTATATATATGTATAT ATATGTATATATATATGTATATATATATGTATATATATGTATATATATGT ATATATATATGTATATATATATGTATATATATGTATATATATACGTATAT ATATATG	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0177 a0003c0004t0002g0177	1	410	0.0024	356	c.484 others(371): Show c.484-660_484-659insCATATATATATACGTATATATATACATATA TATACATATATATATACATATATATATACATATATATACATATATATACA TATATATATACATATATATATACATATATATACATATATATACATATATA TACATATATATACATATATATACATATATATACATATATATACATATATA TACATATATATACACATATATATACATATATATACATATATATACACATA TATATATACATATATATACATATATATACATATATACACATATATATACA TATATATACATATATATACATATATATACATATATATATACATATATATA TACATATATATATATACATATATATA	MS4A4E	ENSG00000214787.11	transcript	ENST00000651255.1	protein_coding	6/8			chr11	TogoVar
MSLN_chr16_755734_773862	767629	A A	AGGGGCGC others(349): Show AGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGTGTG GAGGGGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAGGGGGGTGCGT GGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGGGGGGT GTGGAGGGGGGCGCGTGGGGGTGTGTGGGGGGGGCACGTGGAGGGGGGCG TGTGGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGG AGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGGAGCGTGGGGGGCGTGG AGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGC GTGGAGG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0031 a0005c0005t0001g0031	1	388	0.0026	356	c.159 others(373): Show c.1596+173_1596+174insGGGCCGTGTGGGGGGGCGTGGAGGAGGG GCGTGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAGGGG GGTGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTG GGGGGGTGTGGAGGGGGGCGCGTGGGGGTGTGTGGGGGGGGCACGTGGAG GGGGGCGTGTGGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGC GTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGGAGCGTGGGG GGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTG GGGGGGCGTGGAGGGGGGCGCGTGGAGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MYO1G_chr7_44957662_44984015	44961195	G G	GTTGAGGG others(349): Show GTTGAGGGGCTGAGGGGGCTGAGAGGGCTGAGGGGCTGAGTGGTTGAGGG GGTTGAGGGGGCTGGGGGCTGGGGGGCTGAGGGCTGAGGGGGCTGAGGGC TGAGGGGGGTAAGGGCTGAGGGCTGAGGGAGCTGAGGGGGCTGAGGGGAT GAGGGGTTGAGGGGACTGAGGACTGAGGGGCTGAGGGTTTGAGGGGGCTG AGCACTGAGGGGCTGAGGGATTGAGGAGGCTGAGGGCTGAGGGGCTGAGG GAGTTGAGGGGTTGAGGGGGCTGACGGCTGAGGGCTGAGGGGCTAAGGAG GCTGAGGGGCTGAGGGGCTGGGGGGCTGGGGGGCTGAGGGGGCTGAGGGG CTGAGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG01928.hp1 HG01943.hp1 others(16): Show HG01496.hp2 HG01928.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG02004.hp2 HG02155.hp2 NA18942.hp2 NA18973.hp2 NA18983.hp2 NA19002.hp2 NA19005.hp2 NA19007.hp2 NA19057.hp1 NA19060.hp1 NA19068.hp1	a0001 a0013 a0001 a0013	a0001c0001 a0013c0022 a0001c0001 a0013c0022	a0001c0001t0001 a0013c0022t0001 a0001c0001t0001 a0013c0022t0001	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0015 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0096 a0013c0022t0001g0054	19	378	0.0503	356	c.15 others(367): Show c.1543_*1544insAACTCAGCCCCTCAGCCCCCTCAGCCCCCCAGCC CCCCAGCCCCTCAGCCCCTCAGCCTCCTTAGCCCCTCAGCCCTCAGCCGT CAGCCCCCTCAACCCCTCAACTCCCTCAGCCCCTCAGCCCTCAGCCTCCT CAATCCCTCAGCCCCTCAGTGCTCAGCCCCCTCAAACCCTCAGCCCCTCA GTCCTCAGTCCCCTCAACCCCTCATCCCCTCAGCCCCCTCAGCTCCCTCA GCCCTCAGCCCTTACCCCCCTCAGCCCTCAGCCCCCTCAGCCCTCAGCCC CCCAGCCCCCAGCCCCCTCAACCCCCTCAACCACTCAGCCCCTCAGCCCT CTCAGCCCCCTCAGCCCCTCAA	MYO1G	ENSG00000136286.16	transcript	ENST00000258787.12	protein_coding		1466		chr7	TogoVar
MYT1L_chr2_1784113_2336275	1952717	T T	TCCTTCCT others(349): Show TCCTTCCTTCCCTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCT TCTCTTCCCTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCT CTTCCCTCCCTCCCTCCCCCTTCCTCCCTCTCCCCCTCCCTCCTTCTCTT CCCTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCC TCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCC CTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCCCTC CCTTTCTTTCCTTCCCTCCTTCCTTTCCTTCCCTTCTTTCCCTCCTTCCT TCCTTTC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03209.hp2 HG03098.hp2 HG03209.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0043 a0002c0011t0001g0078 a0002c0011t0001g0043 a0002c0011t0001g0078	2	104	0.0192	356	c.153 others(373): Show c.153-9384_153-9383insGAAAGGAAGGAAGGAGGGAAAGAAGGGA AGGAAAGGAAGGAGGGAAGGAAAGAAAGGGAGGGAGGGAAGAGAAGGAGG GAGGGAGAGAGGGAGGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAG GGAGAGAGGGAGGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGA GAGAGGGAGGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGGGAG AGGGAGGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGG GAGGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGGAG GAAGGGGGAGGGAGGGAGGGAAGGAAGG	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	8/24			chr2	TogoVar
MYT1L_chr2_1784113_2336275	1952717	T T	TCCTTCCT others(349): Show TCCTTCCTTCCCTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCT TCTCTTCCCTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCT CTTCCCTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTT CCCTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCC TCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCC CTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCCCTC CCTTTCTTTCCTTCCCTCCTTCCTTTCCTTCCCTTCTTTCCCTCCTTCCT TCCTTTC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02083.hp2 HG02135.hp1 others(6): Show HG00140.hp1 HG02083.hp2 HG02135.hp1 HG02165.hp2 HG02698.hp1 HG02735.hp1 NA18945.hp2 NA18971.hp1 NA19060.hp2	a0001 a0003 a0001 a0003	a0001c0004 a0001c0006 a0001c0014 others(3): Show a0001c0004 a0001c0006 a0001c0014 a0001c0021 a0001c0022 a0003c0010	a0001c0004t0001 a0001c0006t0001 a0001c0006t0003 others(5): Show a0001c0004t0001 a0001c0006t0001 a0001c0006t0003 a0001c0014t0002 a0001c0021t0002 a0001c0022t0016 a0003c0010t0003 a0003c0010t0009	a0001c0004t0001g0102 a0001c0006t0001g0018 a0001c0006t0001g0024 others(6): Show a0001c0004t0001g0102 a0001c0006t0001g0018 a0001c0006t0001g0024 a0001c0006t0003g0028 a0001c0014t0002g0070 a0001c0021t0002g0026 a0001c0022t0016g0012 a0003c0010t0003g0039 a0003c0010t0009g0013	9	104	0.0865	356	c.153 others(373): Show c.153-9384_153-9383insGAAAGGAAGGAAGGAGGGAAAGAAGGGA AGGAAAGGAAGGAGGGAAGGAAAGAAAGGGAGGGAGGGAAGAGAAGGAGG GAGGGAGAGAGGGAGGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAG GGAGAGAGGGAGGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGA GAGAGGGAGGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAG AGGGAGGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGG GAGGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGGAG GAAGGGGGAGGGAGGGAGGGAAGGAAGG	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	8/24			chr2	TogoVar
MYT1L_chr2_1784113_2336275	1952717	T T	TCCTTCCT others(349): Show TCCTTCCTTCCCTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCT TCTCTTCCCTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCT CTTCCCTCCCTCCCTCCCCCTTCCTCCCTCTGTCCCTCCCTCCTTCTCTT CCCTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCC TCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCC CTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCCCTC CCTTTCTTTCCTTCCCTCCTTCCTTTCCTTCCCTTCTTTCCCTCCTTCCT TCCTTTC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02647.hp2 HG02897.hp1 HG02280.hp2 HG02647.hp2 HG02897.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0017 a0001c0005t0002 a0001c0005t0026 a0001c0003t0017 a0001c0005t0002 a0001c0005t0026	a0001c0003t0017g0014 a0001c0005t0002g0099 a0001c0005t0026g0103 a0001c0003t0017g0014 a0001c0005t0002g0099 a0001c0005t0026g0103	3	104	0.0289	356	c.153 others(373): Show c.153-9384_153-9383insGAAAGGAAGGAAGGAGGGAAAGAAGGGA AGGAAAGGAAGGAGGGAAGGAAAGAAAGGGAGGGAGGGAAGAGAAGGAGG GAGGGAGAGAGGGAGGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAG GGAGAGAGGGAGGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGA GAGAGGGAGGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGACAG AGGGAGGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGG GAGGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGGAG GAAGGGGGAGGGAGGGAGGGAAGGAAGG	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	8/24			chr2	TogoVar
MYT1_chr20_64159452_64247253	64233262	T T	TCCCCTTT others(349): Show TCCCCTTTCCCTCCTCCCCTCTTCCCTCCCTCTCTCTCCTCCCCCTCCCC TCTTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCC CTCCCCTCCCCCTCCCCTCTCCCTCCCCTTCCCCTCCCCTCTCCCTCCCC TTCCCCTCCCCTCTCCCTCCCCTTCCTCTCCCCTCTCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCCTCCCCTTCCCCTCCCCT CTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCT CCCCTCTCCCTCCCCTTCCTCTCCCCTCTCCCTCCCCTTCCTCTCCCCTC TCCCTCC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0015 a0001c0006t0015	a0001c0006t0015g0024 a0001c0006t0015g0024	1	223	0.0045	356	c.289 others(373): Show c.2897+879_2897+880insCCTTTCCCTCCTCCCCTCTTCCCTCCCT CTCTCTCCTCCCCCTCCCCTCTTCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCTCTCCCTCCCCTCCCCCTCCCCTCTCCCTCCCCTTC CCCTCCCCTCTCCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTTCCTCTCC CCTCTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTC CCTCCCCTTCCCCTCCCCTCTCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTTCCTCTCCCCTCTCC CTCCCCTTCCTCTCCCCTCTCCCTCCCC	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
NBPF10_chr1_146059711_146149804	146109343	C C	CACACACA others(349): Show CACACACACATACACACACAGAGAGAGAGAACGAGCTCAGTGAATTGTCC AGGTGACACACTGATGAGGGAGTAACAAGACACTCTGAGTTAGTGCCCTC AGGACACACAGCATACAGGGATCATGAAAAGACTGTGCTCAATAATTTTC CATAAAATGTGCTCAAGTTTCCATGCAGTCGCCATGAGAATACAGTTTTT GAAGTCTGGTCCACCTACAGTAGGTTAGTAAATGATAAGGGGAGGAAGAA ATGGAAACCTAAATATCTACTGCAATGAAAACCAACAGCAATGTTAGTAG GAATAATTCAGGCTTGCACACACACACACACACACACACACACACACACA CACACAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0107 a0107	a0107c0117 a0107c0117	a0107c0117t0002 a0107c0117t0002	a0107c0117t0002g0103 a0107c0117t0002g0103	1	283	0.0035	356	c.450 others(373): Show c.4500-230_4500-229insATGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGCAAGCCTGAATTATTCCTACTAACATTGCTGTTGGTT TTCATTGCAGTAGATATTTAGGTTTCCATTTCTTCCTCCCCTTATCATTT ACTAACCTACTGTAGGTGGACCAGACTTCAAAAACTGTATTCTCATGGCG ACTGCATGGAAACTTGAGCACATTTTATGGAAAATTATTGAGCACAGTCT TTTCATGATCCCTGTATGCTGTGTGTCCTGAGGGCACTAACTCAGAGTGT CTTGTTACTCCCTCATCAGTGTGTCACCTGGACAATTCACTGAGCTCGTT CTCTCTCTCTGTGTGTGTATGTGTGTGT	NBPF10	ENSG00000271425.9	transcript	ENST00000583866.9	protein_coding	35/89			chr1	TogoVar
NEU4_chr2_241804193_241822413	241805561	C C	CCCTCCCC others(349): Show CCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTC AACCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCTTCCCTCCCCCCCTCAGCCCAGGGACCTCGGCAGGCC ACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCCTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCAC CTTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0183 a0001c0001t0003g0183	1	319	0.0031	356	c.-37 others(367): Show c.-3717_-3716insCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA CCTTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCTTCCCTCCCC CTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCCTCAGCCCAG GGACCTCGGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTC CGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC CTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCC CTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAACCCAGGG ACCTCCGCAGGCCACCTTCCCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3631		chr2	TogoVar
NME4_chr16_392199_405754	397703	G G	GGGGGGTG others(349): Show GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGGTGGGGGG GGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGGGTGAGGGAGTC GGGGGGT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	356	0.0028	356	c.91+ others(369): Show c.91+393_91+394insGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGG GGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGGTGGGGGTGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTC GGGGGGGTGGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTTG GGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGG GGGGTGAGGGAGTCGGGGGGTGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NME4_chr16_392199_405754	397707	T T	TGTGGGGG others(349): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGG GGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAG TCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGG	intron_variant intron_variant	MODIFIER	NA21309.hp2 homoSapiens_chm13v2.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	2	356	0.0056	356	c.91+ others(369): Show c.91+432_91+433insGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGG GTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGG GGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTTGGGGG GTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NOTCH1_chr9_136489433_136551048	136535597	A A	AGGGGCAA others(349): Show AGGGGCAATGGGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCC GGGGCAATGGGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCC CAGGGGCAATGGGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCC CGGGGCAATGGGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTC CCGGGGCAATGGGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCT CCCAGGGGCAATGGGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCC CTCCCAGGGGCAATGGGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGAT CCCTCCC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0143 a0001c0006t0002g0143	1	324	0.0031	356	c.140 others(373): Show c.140+8426_140+8427insGGGAGGGATCCTGAGTGCTCCCCTCTCC ACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCTCT CCACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCT CTCCACCCACCCTGCACCCATTGCCCCGGGAGGGATCCTGAGTGCTCCCC TCTCCACCCACCCTGCACCCATTGCCCCGGGAGGGATCCTGAGTGCTCCC CCCGACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCC CTCTCCACCCACCCTGCACCCATTGCCCCGGGAGGGATCCTGAGTGCTCC CCCCGACCCACCCTGCACCCATTGCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NRIP1_chr21_14956235_15070000	14980613	T T	TGATCAAT others(349): Show TGATCAATGTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG GCACCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCG CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGCCC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0385 a0001c0001t0025g0385	1	398	0.0025	356	c.-33 others(377): Show c.-334-12088_-334-12087insGGGCCGGGCGCGGTGGCTCACGCC TGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGG AGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAA TACAAAAAATTAGCCGGGCGTGGTAGCGGGTGCCTGTAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAGAACATTGATC	NRIP1	ENSG00000180530.11	transcript	ENST00000318948.7	protein_coding	3/3			chr21	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(349): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCCCCTCCCTCCCCTCCCCCTCCCCTTCCCCTCCCCT CCCCTTCCCCTCCCCTCTCCCCTCCCCCTCCCCTCCCCCTTCCCCTCCCC CTTCCCCTCCCCCTCCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCT CCCCTCC	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0066 a0001c0001t0013g0066	1	326	0.0031	356	c.433 others(373): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGGAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGG AGGGGGAGGGGAGAGGGGAGGGGAAGGGGAGGGGAGGGGAAGGGGAGGGG GAGGGGAGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NTRK2_chr9_84664729_85032054	84783049	T T	TAAGAAAT others(349): Show TAAGAAATAGGCTGTTCTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0083 a0001c0001t0003g0083	1	170	0.0059	356	c.139 others(377): Show c.1396+30982_1396+30983insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTT GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAGAAATAGGCTGTTCTC	NTRK2	ENSG00000148053.18	transcript	ENST00000277120.8	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUBP1_chr16_10738842_10774351	10764693	A A	ATTGGAGC others(349): Show ATTGGAGCATCTCAGTCTGCTGGAGTATGTCAGTCTGTTGGAGCATCTCA GTCTGCTGGAGTATGTCAGTCTATTGGAGCATCTCAGTCTGCTGGAGTAT GTCAGTCTATTGGAGCATCTCAGTCTGCTGGAGTATGTCAGTCTATTGGA GCATCTCAGTCTGCTGGAGTAGGTCTATTGGAGCATCTCAGTCTGCTGGA GTATGTCAGTCTGTTGGAGCATCTCAGTCTGCTGGAGTATGTCAGTCTGT TGGAGCATCTCAGTCTGCTGGAGTATGTCAGTCTGTTGGAGCATCTCAGT CTGCTGGAGTATGTCAGTCTGTTGGAGCATCTCAGTCTGCTGGAGTATGT CAGTCTG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02486.hp1 HG02965.hp2 others(6): Show HG02257.hp1 HG02486.hp1 HG02965.hp2 HG03098.hp1 HG03195.hp2 HG03225.hp2 HG03486.hp1 HG03516.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0051 a0001c0001t0002g0241 a0001c0001t0002g0242 others(3): Show a0001c0001t0002g0051 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0004g0024 a0001c0001t0004g0239 a0001c0001t0004g0240	9	424	0.0212	356	c.820 others(373): Show c.820+2905_820+2906insATTGGAGCATCTCAGTCTGCTGGAGTAT GTCAGTCTATTGGAGCATCTCAGTCTGCTGGAGTATGTCAGTCTATTGGA GCATCTCAGTCTGCTGGAGTAGGTCTATTGGAGCATCTCAGTCTGCTGGA GTATGTCAGTCTGTTGGAGCATCTCAGTCTGCTGGAGTATGTCAGTCTGT TGGAGCATCTCAGTCTGCTGGAGTATGTCAGTCTGTTGGAGCATCTCAGT CTGCTGGAGTATGTCAGTCTGTTGGAGCATCTCAGTCTGCTGGAGTATGT CAGTCTGTTGGAGCATCTCAGTCTGCTGGAGTATGTCAGTCTGTTGGAGC ATCTCAGTCTGCTGGAGTATGTCAGTCT	NUBP1	ENSG00000103274.11	transcript	ENST00000283027.10	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56739406	A A	AACCTCCC others(349): Show AACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGTGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGGCTGACTCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCCGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGA CTCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CATCCCC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01346.hp2 HG03654.hp2 HG00733.hp2 HG01346.hp2 HG03654.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0041 a0001c0002t0010 a0001c0002t0041	a0001c0002t0010g0111 a0001c0002t0010g0112 a0001c0002t0041g0113 a0001c0002t0010g0111 a0001c0002t0010g0112 a0001c0002t0041g0113	3	378	0.0079	356	c.-14 others(373): Show c.-14-8768_-14-8767insTGGCCGGGCAGAGGCGCCCCTCACCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACTCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCCGGGGGCTGACACCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGT GGGGGGGCTGACTCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGG	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56739504	C C	CGGCTGGC others(349): Show CGGCTGGCCGGGCGGGGGGGCTGACTCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCCGGGGGCTGACACCCCCACCTCCCTCCAGGACGGGG CGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCT GACTCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCT GACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGT	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA19010.hp1 NA18983.hp2 NA19010.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0060 a0001c0002t0001g0061	2	378	0.0053	356	c.-14 others(373): Show c.-14-8706_-14-8705insTCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCCGGGGGCTGACACCCCCACCTCCCTCCAGGACGGGGCGG CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGAC TCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC ATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGTGGCTGGCCGGGCGGGGGGGCTGAC	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56739504	C C	CGGCTGGC others(349): Show CGGCTGGCCGGGCGGGGGGGCTGACTCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCCGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCT GACTCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCT GACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00609.hp2 others(98): Show HG00099.hp1 HG00323.hp2 HG00609.hp2 HG00621.hp1 HG00673.hp2 HG00735.hp1 HG01069.hp2 HG01123.hp1 HG01167.hp1 HG01255.hp1 HG01258.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01981.hp1 HG01993.hp2 HG02015.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02148.hp1 HG02165.hp2 HG02257.hp1 HG02280.hp1 HG02293.hp1 HG02300.hp2 HG02451.hp1 HG02572.hp1 HG02602.hp2 HG02622.hp1 HG02647.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03098.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03490.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03688.hp2 HG03704.hp1 HG03834.hp2 HG04199.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18940.hp2 NA18943.hp2 NA18944.hp1 NA18946.hp2 NA18949.hp1 NA18953.hp1 NA18954.hp2 NA18961.hp2 NA18965.hp2 NA18966.hp2 NA18970.hp1 NA18981.hp1 NA18982.hp2 NA18988.hp1 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA19000.hp1 NA19002.hp1 NA19004.hp2 NA19011.hp1 NA19060.hp2 NA19064.hp2 NA19066.hp1 NA19068.hp1 NA19080.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19087.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp2	a0001 a0006 a0007 a0001 a0006 a0007	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0011 a0001c0012 a0001c0014 a0001c0016 a0001c0017 a0001c0019 a0006c0021 a0007c0020	a0001c0001t0001 a0001c0001t0036 a0001c0001t0038 others(14): Show a0001c0001t0001 a0001c0001t0036 a0001c0001t0038 a0001c0002t0001 a0001c0002t0010 a0001c0002t0037 a0001c0002t0040 a0001c0003t0002 a0001c0007t0012 a0001c0011t0001 a0001c0012t0001 a0001c0014t0001 a0001c0016t0001 a0001c0017t0001 a0001c0019t0001 a0006c0021t0001 a0007c0020t0001	a0001c0001t0001g0003 a0001c0001t0001g0045 a0001c0001t0001g0046 others(97): Show a0001c0001t0001g0003 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0036g0148 a0001c0001t0038g0150 a0001c0002t0001g0001 a0001c0002t0001g0057 a0001c0002t0001g0064 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0001g0107 a0001c0002t0001g0127 a0001c0002t0001g0164 a0001c0002t0001g0167 a0001c0002t0001g0344 a0001c0002t0010g0048 a0001c0002t0010g0049 a0001c0002t0010g0050 a0001c0002t0037g0084 a0001c0002t0040g0097 a0001c0003t0002g0047 a0001c0007t0012g0065 a0001c0011t0001g0089 a0001c0011t0001g0090 a0001c0012t0001g0079 a0001c0014t0001g0137 a0001c0016t0001g0117 a0001c0017t0001g0158 a0001c0019t0001g0078 a0006c0021t0001g0011 a0007c0020t0001g0063	101	378	0.2672	356	c.-14 others(373): Show c.-14-8706_-14-8705insTCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCCGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGAC TCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC ATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGTGGCTGGCCGGGCGGGGGGGCTGAC	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56739504	C C	CGGCTGGC others(349): Show CGGCTGGCCGGGCGGGGGGGCTGACTCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCT GACTCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCT GACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 NA18949.hp2 HG01069.hp1 HG01071.hp2 NA18949.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0256 a0001c0003t0002g0257 a0001c0003t0002g0258 a0001c0003t0002g0256 a0001c0003t0002g0257 a0001c0003t0002g0258	3	378	0.0079	356	c.-14 others(373): Show c.-14-8706_-14-8705insTCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGAC TCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC ACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGTGGCTGGCCGGGCGGGGGGGCTGAC	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56739504	C C	CGGCTGGC others(349): Show CGGCTGGCCGGGCGGGGGGGCTGACTCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGC AGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCT GACTCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCT GACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0018 a0001c0009t0018	a0001c0009t0018g0019 a0001c0009t0018g0019	1	378	0.0027	356	c.-14 others(373): Show c.-14-8706_-14-8705insTCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGAC TCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC ACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGTGGCTGGCCGGGCGGGGGGGCTGAC	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56739504	C C	CGGCTGGC others(349): Show CGGCTGGCCGGGCGGGGGGGCTGACTCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGC AGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGTGGGGGCT GACTCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCT GACACCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG00558.hp2 others(18): Show HG00423.hp2 HG00438.hp2 HG00558.hp2 HG00639.hp2 HG01358.hp1 HG02818.hp1 HG02965.hp2 HG03017.hp2 NA18612.hp2 NA18906.hp1 NA18943.hp1 NA18948.hp2 NA18951.hp1 NA18967.hp1 NA18971.hp2 NA18972.hp1 NA18977.hp2 NA18988.hp2 NA18989.hp1 NA19079.hp1 NA19081.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0015 a0001c0004t0024 a0001c0004t0005 a0001c0004t0015 a0001c0004t0024	a0001c0004t0005g0020 a0001c0004t0005g0021 a0001c0004t0005g0022 others(18): Show a0001c0004t0005g0020 a0001c0004t0005g0021 a0001c0004t0005g0022 a0001c0004t0005g0023 a0001c0004t0005g0024 a0001c0004t0005g0025 a0001c0004t0005g0026 a0001c0004t0005g0027 a0001c0004t0005g0028 a0001c0004t0005g0029 a0001c0004t0005g0036 a0001c0004t0005g0037 a0001c0004t0005g0038 a0001c0004t0005g0040 a0001c0004t0005g0041 a0001c0004t0005g0043 a0001c0004t0015g0015 a0001c0004t0015g0016 a0001c0004t0015g0017 a0001c0004t0024g0039 a0001c0004t0024g0042	21	378	0.0556	356	c.-14 others(373): Show c.-14-8706_-14-8705insTCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGTGGGGGCTGAC TCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC ACCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGTGGCTGGCCGGGCGGGGGGGCTGAC	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56739504	C C	CGGCTGGC others(349): Show CGGCTGGCCGGGCGGGGGGGCTGACTCCCCCCACCTCCCTCCCGGACGGG GTGGCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGC AGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCT GACTCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCT GACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03209.hp1 HG02451.hp2 HG03209.hp1	a0001 a0003 a0001 a0003	a0001c0009 a0003c0024 a0001c0009 a0003c0024	a0001c0009t0018 a0003c0024t0018 a0001c0009t0018 a0003c0024t0018	a0001c0009t0018g0018 a0003c0024t0018g0010 a0001c0009t0018g0018 a0003c0024t0018g0010	2	378	0.0053	356	c.-14 others(373): Show c.-14-8706_-14-8705insTCCCCCCACCTCCCTCCCGGACGGGGTG GCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGAC TCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC ACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGTGGCTGGCCGGGCGGGGGGGCTGAC	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56739504	C C	CGGGTGGC others(349): Show CGGGTGGCCGGGCGGGGGGGCTGACTCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCCGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCT GACTCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCT GACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0165 a0001c0002t0001g0165	1	378	0.0027	356	c.-14 others(373): Show c.-14-8728_-14-8727insGTGGCCGGGCGGGGGGGCTGACTCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCCGGGGGCTGACACCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGG CTGGCCGGGTGGGGGGGCTGACTCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCTGACATCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGTGG	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr16	TogoVar

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