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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ZC3H3_chr8_143432659_143546447	143486847	G G	GCCCCATC others(407): Show GCCCCATCACCACGAAGCTCAGACACAGAACAGCACCCGCTACACGGCCC CATCATCACGAAGCTCAGACACAGAACAGCACCCGCTACACGACCCCACC ACCACGAAGCTCACATACAGAACAGCACCCGCTACACGACCCCACCACCA CGAAGCTCACACACAGAACAGCACCCGCTACACGACCCCACCACCACGAA GCTCACACACAGAACAGCACCCGCTACACGGCCCCACCACCACGAAGCTC AGACACACAACAGCACCCGCTACACGGCCCCACCACCACGAAGCTCAGAC ACAGAACAGCACCCGCTACACTGCCCCATCACCACGAAGCTCAGACACAG AACAGCACCCGCTACACGACCCCACCACCACGAAGCTCAGACACACAACA GCACCCGCTACACGA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01257.hp2 HG01358.hp2 others(3): Show HG01167.hp2 HG01257.hp2 HG01358.hp2 HG01952.hp2 HG02004.hp2 HG02148.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0188 a0005c0005t0001g0189 a0005c0005t0001g0190 others(3): Show a0005c0005t0001g0188 a0005c0005t0001g0189 a0005c0005t0001g0190 a0005c0005t0001g0191 a0005c0005t0001g0192 a0005c0005t0001g0220	6	300	0.0200	414	c.171 others(435): Show c.1716-11263_1716-11262insTCGTGTAGCGGGTGCTGTTGTGTG TCTGAGCTTCGTGGTGGTGGGGTCGTGTAGCGGGTGCTGTTCTGTGTCTG AGCTTCGTGGTGATGGGGCAGTGTAGCGGGTGCTGTTCTGTGTCTGAGCT TCGTGGTGGTGGGGCCGTGTAGCGGGTGCTGTTGTGTGTCTGAGCTTCGT GGTGGTGGGGCCGTGTAGCGGGTGCTGTTCTGTGTGTGAGCTTCGTGGTG GTGGGGTCGTGTAGCGGGTGCTGTTCTGTGTGTGAGCTTCGTGGTGGTGG GGTCGTGTAGCGGGTGCTGTTCTGTATGTGAGCTTCGTGGTGGTGGGGTC GTGTAGCGGGTGCTGTTCTGTGTCTGAGCTTCGTGATGATGGGGCCGTGT AGCGGGTGCTGTTCTGTGTCTGAGCTTCGTGGTGATGGGG		ZC3H3	ENSG00000014164.7	transcript	ENST00000262577.6	protein_coding	4/11						chr8	TogoVar
ZNF365_chr10_62369369_62407450	62370805	T T	TATATGAT others(407): Show TATATGATATATACATCATATATCACACATATGATATATACATCATATAT CACACATATGATATACATCATATATCACACATATGATATACATCATATAT CACACATATGATATACATCATATATCACACATATGATATACATCATATAT CACACATATGATATACATCATATATCACACATATGATATACATCATATAT CACACATATGATATATATCATATATCACACATATGATATATATCATATAT CACACATATGATATATATCACACATATCACATATATCATATATATCATAC ATATCACATATATCATATATATCATACATATCACATATATGATATATATC ATATATATCACATATATCATATATATCATATATATCACATATATCATATA TATCATATATATCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0065 a0002c0002t0001g0065	1	348	0.0029	414	c.-36 others(425): Show c.-3667_-3666insATATGATATATACATCATATATCACACATATGAT ATATACATCATATATCACACATATGATATACATCATATATCACACATATG ATATACATCATATATCACACATATGATATACATCATATATCACACATATG ATATACATCATATATCACACATATGATATACATCATATATCACACATATG ATATACATCATATATCACACATATGATATATATCATATATCACACATATG ATATATATCATATATCACACATATGATATATATCACACATATCACATATA TCATATATATCATACATATCACATATATCATATATATCATACATATCACA TATATGATATATATCATATATATCACATATATCATATATATCATATATAT CACATATATCATATATATCATATATATCAC		ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding					3563		chr10	TogoVar
ABCA7_chr19_1035107_1070572	1049900	C C	CCCCCCCA others(408): Show CCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCGGACCACTCCCTCCCTG TGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCGACCGCTCCCTCCCC GTGAGTCCCCCGACCACTCCCTCCCTGTGAGCCCCCCGACCGCTCCCTCC CCGTGAGCCCCCCACCACTCCCTCCCTGTGAGCCCCCCGACCGCTCCCTC CCTGTGAGTCCCCCGACCACTCCCTCCCTTTGAGCCCCCCCGGACCACTC CCTCCCTGTGAGCCCCCCACCACTCCCTCCCTGTGAGTCCCCCACCACTC CCTCCCTGTGAGTCCCCCGACCACTCCCTCCCTTTGAGCCCCCCCGGACC ACTCCCTCCCTGTGAGCCCCCCACCACTCCCTCCCTGTGAGTCCCCCACC ACTCCCTCCCTGTGAG	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0018 a0018	a0018c0007 a0018c0007	a0018c0007t0002 a0018c0007t0002	a0018c0007t0002g0005 a0018c0007t0002g0005	1	22	0.0455	415	c.255 others(432): Show c.2552+482_2552+483insCGTGAGCCCCCCCGGACCACTCCCTCCC TGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCGACCGCTCCCTCC CCGTGAGTCCCCCGACCACTCCCTCCCTGTGAGCCCCCCGACCGCTCCCT CCCCGTGAGCCCCCCACCACTCCCTCCCTGTGAGCCCCCCGACCGCTCCC TCCCTGTGAGTCCCCCGACCACTCCCTCCCTTTGAGCCCCCCCGGACCAC TCCCTCCCTGTGAGCCCCCCACCACTCCCTCCCTGTGAGTCCCCCACCAC TCCCTCCCTGTGAGTCCCCCGACCACTCCCTCCCTTTGAGCCCCCCCGGA CCACTCCCTCCCTGTGAGCCCCCCACCACTCCCTCCCTGTGAGTCCCCCA CCACTCCCTCCCTGTGAGCCCCCCACCACTCCCTCCC		ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	18/46					INFO_REALIGN_3_PRIME	chr19	TogoVar
ACTRT2_chr1_3016467_3027903	3026038	G G	GTGGTGGT others(408): Show GTGGTGGTGGTGATGATGATGGTGATGATGGTGATGGTGATGATGGTGAT GGTGGTGATGATGGTGGTGATGATGGTGGTGGTGGTGATGATGATGGTGA TGATGGTGATGGTGATGATGATGGTGATGATGGTAATGACAATGATGGTG ATGATGATAGTAATGACATGGTGGTGGTGATCATGATGATGGTGAGGATG GTGATGGTGATGATGGTGCTGGTGACGATAATGATGGTGGTGATGATGGT GATGGTGGTGGTGATGATGGTGATGATGACAATGATGGTGATCATGATGG TGATAATGATGGTGATGGCGATGGTGATGATGGTGGTAATAACATAGTGG TGATGATCATGATGATGGGGAAGATGGTGGTGGTGATGGTGACAGTGATG ATGATGATGATGGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp2 NA19077.hp2 NA19088.hp1 NA18948.hp2 NA19077.hp2 NA19088.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0000 a0003c0003t0001g0000	3	359	0.0084	415	c.32 others(426): Show c.3218_*3219insTGGTGGTGGTGATGATGATGGTGATGATGGTGAT GGTGATGATGGTGATGGTGGTGATGATGGTGGTGATGATGGTGGTGGTGG TGATGATGATGGTGATGATGGTGATGGTGATGATGATGGTGATGATGGTA ATGACAATGATGGTGATGATGATAGTAATGACATGGTGGTGGTGATCATG ATGATGGTGAGGATGGTGATGGTGATGATGGTGCTGGTGACGATAATGAT GGTGGTGATGATGGTGATGGTGGTGGTGATGATGGTGATGATGACAATGA TGGTGATCATGATGGTGATAATGATGGTGATGGCGATGGTGATGATGGTG GTAATAACATAGTGGTGATGATCATGATGATGGGGAAGATGGTGGTGGTG ATGGTGACAGTGATGATGATGATGATGGTGA		ACTRT2	ENSG00000169717.7	transcript	ENST00000378404.4	protein_coding					3136		chr1	TogoVar
ACTRT3_chr3_169761921_169774561	169770602	A A	AATATAAA others(408): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATAAATATAT AAAAATTTATATTTATATATCATAAATAAAAATTTATATTTATATATCAT AAATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATA TCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATATCATATAAAAATTTATATTTATATATCATATATAAAAATTTATATT TATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTA TATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAA TTTATATTTATATATCATATATAAAAATTTATATATATCATATATAAAAA TTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	224	0.0045	415	c.-10 others(426): Show c.-1083_-1082insGATATATAAATATAAATTTTTATATATGATATAT ATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATA TGATATATAAATATAAATTTTTATATGATATATAAATATAAATTTTTATA TATGATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTT TATATATGATATATAAATATAAATTTTTATTTATGATATATAAATATAAA TTTTTATTTATGATATATAAATATAAATTTTTATATATTTATATTTATGA TATATAAATATAAATTTTTATATATTTATAT		ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding					1042		chr3	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500849	A A	AGGGGAAG others(408): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGGG AGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGG GGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGG AGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAG GAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAA GGGGAGGGGGAGGGGGGAGGAGGGGAGGCGGGGAGGAGGGGACGGGGGAG GAGGGGAGGGGGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0186 a0001c0001t0004g0186	1	30	0.0333	415	c.51 others(426): Show c.5165_*5166insCCTCCCCCCTCCCCTCCTCCCCCGTCCCCTCCTC CCCGCCTCCCCTCCTCCCCCCTCCCCCTCCCCTTCCCCTCCTCCCCCTCC CCTTCCCCTCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCTCCCCCTTCCC TCCTCCCCCTCCCCTCCTCCCCCTCCCCTCCTCCTTCCCTCCTCCCCCTC CCCTCCTCCCCTCTCCCCCTCCCCCCTCTCCCCCCTCCCCTCCTCCCTCC TCCCCCCTCCCCTCCTCCCCCCCTCCCCTCCTCCCCCCCTCCTCCCCCCT CCCCTCCTCCCTCCTCCCCCTCCCCTCCCCCCTCCCCTCCTCCCCCCTCC CCTCCTCCCTCTTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCTCCC CTCCTCCCCCCTCCCCTCCTCCCTCTTCCCC		ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding					4172		chr19	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500849	A A	AGGGGAAG others(408): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGAGGGGGGAGGAGGGGGGA GGAGGGCAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGGG GGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGGA GGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGG AGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAAG GGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGAG GAGGGGAGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0019 a0001c0001t0004g0019	1	30	0.0333	415	c.51 others(426): Show c.5165_*5166insCCCTCCCCCTCCCCTCCTCCCCCGTCCCCTCCTC CCCGCCCTCCCCTCCTCCCCCCTCCCCCTCCCCTTCCCCTCCTCCCCCTC CCCTTCCCCTCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCTCCCCCTTCC CTCCTCCCCCTCCCCTCCTCCCCCTCCCCTCCTCCTTCCCTCCTCCCCCT CCCCTCCTCCCCTCTCCCCCTCCCCCCTCTCCCCCCTCCCCTCCTCCCTC CTCCCCCCTCCCCTCCTCCCCCCCTGCCCTCCTCCCCCCTCCTCCCCCCT CCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCTCCCCTCCTCCCCCCTCC CCTCCTCCCTCTTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCTCCC CTCCTCCCCCCTCCCCTCCTCCCTCTTCCCC		ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding					4172		chr19	TogoVar
ADGRB1_chr8_142444649_142550007	142500215	T T	TCCCCCCG others(408): Show TCCCCCCGCGCCGCTCCTCCACCTCCCCACGCGCCGCTCCTCCCCCGCCC CCCGCGCCGCTCCTCCCCCGCCCCCCGCGCCGCTCCTCCCCCGCCCCCCA CGCCGCTCCTCCCCCGCCCCCCACGCCGCTCCTCCCCCGCCCCCCGCGCC GCTCCTCCACCTCCCCACGCGCCGCTCCTCCACCTCCCCACGCGCCGCTC CTCCACCTCCCCACGCGCCGCTCCTCCACCTCCCCACGCGCCGCTCCTCC ACCTCCCCACGCGCCGCTCCTCCCCCGCCCCCCACGCCGCTCCTCCCCCG CCCCCCGCGCCGCTCCTCCCCCGCCCCCCCACGCCGCTCCTCCCCCGCCC CCCGCGCCGCTCCTCCCCCGCCCCCCGCGCCGCTCCTCCCCCGCCCCCCA CGCCGCTCCTCCCCCG	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0261 a0001c0002t0002g0261	1	306	0.0033	415	c.267 others(434): Show c.2675+9442_2675+9443insCCCGCCCCCCGCGCCGCTCCTCCCCC GCCCCCCGCGCCGCTCCTCCCCCGCCCCCCACGCCGCTCCTCCCCCGCCC CCCACGCCGCTCCTCCCCCGCCCCCCGCGCCGCTCCTCCACCTCCCCACG CGCCGCTCCTCCACCTCCCCACGCGCCGCTCCTCCACCTCCCCACGCGCC GCTCCTCCACCTCCCCACGCGCCGCTCCTCCACCTCCCCACGCGCCGCTC CTCCCCCGCCCCCCACGCCGCTCCTCCCCCGCCCCCCGCGCCGCTCCTCC CCCGCCCCCCCACGCCGCTCCTCCCCCGCCCCCCGCGCCGCTCCTCCCCC GCCCCCCGCGCCGCTCCTCCCCCGCCCCCCACGCCGCTCCTCCCCCGCCC CCCGCGCCGCTCCTCCACCTCCCCACGCGCCGCTCCTCC		ADGRB1	ENSG00000181790.13	transcript	ENST00000517894.6	protein_coding	17/30					INFO_REALIGN_3_PRIME	chr8	TogoVar
ADGRG2_chrX_18984307_19127468	19074562	C C	CTCCTTCT others(408): Show CTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTCCTTCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCTCC TTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTCCTT CTTCCTTCTTCTTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTTC TTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	183	0.0055	415	c.-1- others(430): Show c.-1-5728_-1-5727insAGAAGAAGAAGAAGAAGAAGGAGGAGGAGG AGGAGGAGGAGGAGGAGGAGGAGGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGGAAGAAGAAGGAAGAAGGAGAAGAAGAA GGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGAGGAGGA GGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGAGGA GGAGGAGGAGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGAGGAGGAGGA GGAGGAGGAGGAGGAGGAGGAGGAGGAGAAGGAGAAGGAGAAGGAGAAGG AGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAG AAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGA		ADGRG2	ENSG00000173698.18	transcript	ENST00000379869.8	protein_coding	2/28						chrX	TogoVar
ANKLE2_chr12_132720503_132766832	132729596	A A	AAGGGGAG others(408): Show AAGGGGAGGAGGAGGTGAGGGGAGTGGAAGGGTGGGAGGGGAGGGGGAGG TGAGGGGAGGGGGAGGTGAGGGGAGTGGACGGGTGGGAGGGGGAGGGGGA GGGGAGGGTGGGAGGGGGAGGGGAGGGGAAGGGGAGGTGAGGGAGGGGGA GGAGAGGGGAGTGGATGGGTGGGAGGGGAGGGGAAGGGGGAGGGGAGGGG AGTCGACGAGTGGGAGGGGAGGGGAAGGTGAGGGGAGGGGGAGGTGAGGG GAGGGGGGGTGGGAGGGGAGGGGGAGGGTGGGAGGGGAGGGGGAGGGGAG GATGGGAGGGGAGGGGGAGGGGAGGGGAAGGTGAGAGAAGGGGGAGGGGA AGGCGAGGGGAAGGCGAGGGGAGGGGGAGGGGAAGGCGAGGGGAGGGGGA GGGGGAGGGGGAGGCG	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	226	0.0044	415	c.248 others(430): Show c.2483+82_2483+83insCGCCTCCCCCTCCCCCTCCCCCTCCCCTCG CCTTCCCCTCCCCCTCCCCTCGCCTTCCCCTCGCCTTCCCCTCCCCCTTC TCTCACCTTCCCCTCCCCTCCCCCTCCCCTCCCATCCTCCCCTCCCCCTC CCCTCCCACCCTCCCCCTCCCCTCCCACCCCCCCTCCCCTCACCTCCCCC TCCCCTCACCTTCCCCTCCCCTCCCACTCGTCGACTCCCCTCCCCTCCCC CTTCCCCTCCCCTCCCACCCATCCACTCCCCTCTCCTCCCCCTCCCTCAC CTCCCCTTCCCCTCCCCTCCCCCTCCCACCCTCCCCTCCCCCTCCCCCTC CCACCCGTCCACTCCCCTCACCTCCCCCTCCCCTCACCTCCCCCTCCCCT CCCACCCTTCCACTCCCCTCACCTCCTCCTCCCCT		ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/12						chr12	TogoVar
ANO1_chr11_70073317_70194530	70122372	C C	CCACCTCT others(408): Show CCACCTCTCTCTGTCTGTCTCTCTATCTCTGTCTCTCCATCTGCCTCTGT CTCTGTCTCTCTCTCCATCTCCCCCACCTCTCTGTCTGTCTCTCTGTCTC TCCATCTGCCTCTGTCTCTGTCTCTCTCTCCATCTCCCCCACCTCTCTGT CTGTCTCTATCTCTGTCTCTCCATCTGCCTCTGTCTCTGTCTCTCTCTCC ATCTCCCCCGCCTCTCTCTGTCTCTCTGTCTCTGTCTCTCCATCTGCCTC TGTCTCTGTCTCTCTCTCCGTCTCCCTCACCTCTCTCTGTCTGTCTCTCT ATCTCTGTCTCTCCATCTGCCTCTGTCTCTGTCTCTCTCCACCTCCCCAC CTCTCTCTGTCTCTCTGTCTCTGTCTCTCCATCTGCCTCTGTCTCTGTCT CTCTCTCCGTCTCCCT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0002 a0001c0004t0001g0002	1	300	0.0033	415	c.898 others(432): Show c.898-1916_898-1915insTCCATCTCCCCCACCTCTCTGTCTGTCT CTCTGTCTCTCCATCTGCCTCTGTCTCTGTCTCTCTCTCCATCTCCCCCA CCTCTCTGTCTGTCTCTATCTCTGTCTCTCCATCTGCCTCTGTCTCTGTC TCTCTCTCCATCTCCCCCGCCTCTCTCTGTCTCTCTGTCTCTGTCTCTCC ATCTGCCTCTGTCTCTGTCTCTCTCTCCGTCTCCCTCACCTCTCTCTGTC TGTCTCTCTATCTCTGTCTCTCCATCTGCCTCTGTCTCTGTCTCTCTCCA CCTCCCCACCTCTCTCTGTCTCTCTGTCTCTGTCTCTCCATCTGCCTCTG TCTCTGTCTCTCTCTCCGTCTCCCTCACCTCTCTCTGTCTGTCTCTCTAT CTCTGTCTCTCCATCTGCCTCTGTCTCTGTCTCTCTC		ANO1	ENSG00000131620.18	transcript	ENST00000355303.10	protein_coding	8/25					INFO_REALIGN_3_PRIME	chr11	TogoVar
ARMCX4_chrX_101480456_101500807	101494029	G G	GGGGCTGA others(408): Show GGGGCTGAGGCTGGGGCTGGGGTTGGGGCTGGGGGCTGGGGCTGAGGCTG AGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCTGGG ACTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGC TGGGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTG GGACTGAGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGTTGGG GCTGGGACTGAGGCTGGGGCTAGGGCTGGGGCTGAGGCTGGGGCTAGGGC TGAGGCTGAGGTTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGCTC GGGCTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAG GCTGGGGCTGAGGCTC	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA18961.hp1 NA18961.hp1	a0034 a0034	a0034c0038 a0034c0038	a0034c0038t0002 a0034c0038t0002	a0034c0038t0002g0001 a0034c0038t0002g0001	1	3	0.3333	415	c.546 others(424): Show c.5461_5462insTTGGGGCTGGGGGCTGGGGCTGAGGCTGAGGCTGGG GCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCTGGGACTGAGGC TGGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTG GGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGACTGAG GCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGTTGGGGCTGGGAC TGAGGCTGGGGCTAGGGCTGGGGCTGAGGCTGGGGCTAGGGCTGAGGCTG AGGTTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGCTCGGGCTGAG GCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGC TGAGGCTCGGGCTGAGGCTGGGGCTGGGG	p.Ala others(6): Show p.Ala1821fs	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	5973/7729	5462/6873	1821/2290		INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMTL_chrX_1398139_1457909	1405746	G G	GTGAATAG others(408): Show GTGAATAGATGGTAGATGATGGGTAGGTAGGAAGATGAATAGATGGATGC ATGGATGAGATGGATGGTTGGGTGAATAGATGGTAGCTGATGGGTACATA GGTAGATGGATGGATGGATAGATGGATGCATGGATGAGATGGATGGGTGA ATAGATGGTAGATGATGGGTAGGTAGATGAGTGGATGGATGGATGAATGG ATGAGTAGATGGTAGATGATGGGTACGTAGATAGATGAATGGATGGATAG ATGGATGTATGGATGTGATGGATGGGTGAATAGATGGTAGACGATGGGTA GGTAGGTGGATGGATAGATGGAGGCATGGATGAGATGGATGGATGGGTGA ATAAATGGGTAGGTAGGTAGGTAGATGGATGTATAGATGGATGCATGGAT GAGATGGATGGATGGC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02559.hp2 HG02572.hp2 others(2): Show HG02109.hp1 HG02559.hp2 HG02572.hp2 HG02922.hp2 HG06807.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0003 a0003c0002t0001 a0003c0002t0003	a0003c0002t0001g0047 a0003c0002t0001g0154 a0003c0002t0001g0175 others(2): Show a0003c0002t0001g0047 a0003c0002t0001g0154 a0003c0002t0001g0175 a0003c0002t0001g0176 a0003c0002t0003g0100	5	183	0.0273	415	c.164 others(434): Show c.1646-2672_1646-2258dupGCCATCCATCCATCTCATCCATGCAT CCATCTATACATCCATCTACCTACCTACCTACCCATTTATTCACCCATCC ATCCATCTCATCCATGCCTCCATCTATCCATCCACCTACCTACCCATCGT CTACCATCTATTCACCCATCCATCACATCCATACATCCATCTATCCATCC ATTCATCTATCTACGTACCCATCATCTACCATCTACTCATCCATTCATCC ATCCATCCACTCATCTACCTACCCATCATCTACCATCTATTCACCCATCC ATCTCATCCATGCATCCATCTATCCATCCATCCATCTACCTATGTACCCA TCAGCTACCATCTATTCACCCAACCATCCATCTCATCCATGCATCCATCT ATTCATCTTCCTACCTACCCATCATCTACCATCTATTCA		ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	12/12						chrX	TogoVar
ATP11A_chr13_112685038_112892168	112714047	G G	GACCCCTG others(408): Show GACCCCTGATGCCGTGCCTCCTTTCCACTCCCCCAACCCCTGGTCCCAAC CTCCCTTCCGCTCCCCCAACCCCTGATCCCACACCTCCCTTCCACTCCCC CCACCCCTGATGCCATGCCTCCCTTCCACTCCCCCCACCGCTGGTCCCAG CCTCCCTTCCACTCCTCCCACCCGGCTTCCATTCCTGGCCCCAGCCTCCC TTCCACTCCCCCCACCCCTGATCCCACACCTCCCTTTCACTCCCCTGACC CCTGATGCCATGCCTCCCTTCCACTCTCCCCACCCCTGGTCCCAGCCTCC CTTCCACTCCCCCAACCCCTGATCCCACACCTCCCTTCCACTCCCCCTAC CCCTGATCCCACGCCTCCCTTCCACTCCCCCGACCCCTGATCCCACGCCT CCCTTCCACTCCCCCT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01074.hp1 others(6): Show HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01109.hp2 HG01243.hp2 HG01255.hp2 HG02738.hp1 HG04184.hp1 NA18522.hp2	a0001 a0002 a0007 others(2): Show a0001 a0002 a0007 a0010 a0012	a0001c0001 a0001c0006 a0002c0003 others(3): Show a0001c0001 a0001c0006 a0002c0003 a0007c0034 a0010c0037 a0012c0043	a0001c0001t0001 a0001c0006t0001 a0002c0003t0002 others(3): Show a0001c0001t0001 a0001c0006t0001 a0002c0003t0002 a0007c0034t0032 a0010c0037t0001 a0012c0043t0001	a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0151 others(6): Show a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0151 a0001c0006t0001g0077 a0002c0003t0002g0073 a0002c0003t0002g0074 a0007c0034t0032g0075 a0010c0037t0001g0076 a0012c0043t0001g0069	9	10	0.9000	415	c.39+ others(432): Show c.39+23601_39+23602insGCCGTGCCTCCTTTCCACTCCCCCAACC CCTGGTCCCAACCTCCCTTCCGCTCCCCCAACCCCTGATCCCACACCTCC CTTCCACTCCCCCCACCCCTGATGCCATGCCTCCCTTCCACTCCCCCCAC CGCTGGTCCCAGCCTCCCTTCCACTCCTCCCACCCGGCTTCCATTCCTGG CCCCAGCCTCCCTTCCACTCCCCCCACCCCTGATCCCACACCTCCCTTTC ACTCCCCTGACCCCTGATGCCATGCCTCCCTTCCACTCTCCCCACCCCTG GTCCCAGCCTCCCTTCCACTCCCCCAACCCCTGATCCCACACCTCCCTTC CACTCCCCCTACCCCTGATCCCACGCCTCCCTTCCACTCCCCCGACCCCT GATCCCACGCCTCCCTTCCACTCCCCCTACCCCTGAT		ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112714047	G G	GACCCCTG others(408): Show GACCCCTGATGCCGTGCCTCCTTTCCACTCCCCCAACCCCTGGTCCCAAC CTCCCTTCCGCTCCCCCAACCCCTGATCCCACACCTCCCTTCCACTCCCC CCACCCCTGATGCCATGCCTCCCTTCCACTCCCCCCACCGCTGGTCCCAG CCTCCCTTCCACTCCTCCCACCCGGCTTCCATTCCTGGCCCCAGCCTCCC TTCCACTCCCCCCACCCCTGATCCCACACCTCCCTTTCACTCCCCTGACC CCTGATGCCATGCCTCCCTTCCACTCTCCCCACCCCTGGTCCCAGCCTCC CTTCCACTCCCCCAACCCCTGATCCCACACCTCCCTTCCACTCCCCCTAC CCCTGATCCCACGCCTCCCTTCCACTCCCCCGACCCCTGATTCCACGCCT CCCTTCCACTCCCCCT	intron_variant intron_variant	MODIFIER	HG00597.hp1 NA19077.hp1 HG00597.hp1 NA19077.hp1	a0001 a0002 a0001 a0002	a0001c0006 a0002c0010 a0001c0006 a0002c0010	a0001c0006t0001 a0002c0010t0022 a0001c0006t0001 a0002c0010t0022	a0001c0006t0001g0070 a0002c0010t0022g0072 a0001c0006t0001g0070 a0002c0010t0022g0072	2	3	0.6667	415	c.39+ others(432): Show c.39+23601_39+23602insGCCGTGCCTCCTTTCCACTCCCCCAACC CCTGGTCCCAACCTCCCTTCCGCTCCCCCAACCCCTGATCCCACACCTCC CTTCCACTCCCCCCACCCCTGATGCCATGCCTCCCTTCCACTCCCCCCAC CGCTGGTCCCAGCCTCCCTTCCACTCCTCCCACCCGGCTTCCATTCCTGG CCCCAGCCTCCCTTCCACTCCCCCCACCCCTGATCCCACACCTCCCTTTC ACTCCCCTGACCCCTGATGCCATGCCTCCCTTCCACTCTCCCCACCCCTG GTCCCAGCCTCCCTTCCACTCCCCCAACCCCTGATCCCACACCTCCCTTC CACTCCCCCTACCCCTGATCCCACGCCTCCCTTCCACTCCCCCGACCCCT GATTCCACGCCTCCCTTCCACTCCCCCTACCCCTGAT		ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112714047	G G	GACCCCTG others(408): Show GACCCCTGATGGCCGTGCCTCCTTTCCACTCCCCCAACCCCTGGTCCCAA CCTCCCTTCCGCTCCCCCAACCCCTGATCCCACACCTCCCTTCCACTCCC CCCACCCCTGATGCCATGCCTCCTTTCCACTCCCCCCACCGCTGGTCCCA GCCTCCCTTCCACTCCTCCCACCCGGCTTCCATTCCTGGCCCCAGCCTCC CTTCCACTCCCCCCACCCCTGATCCCACACCTCCCTTCCACTCCCCCCAC CCCTGATGCCATGCCTCCCTTCCACTCCCCCCACCGCTGGTCCCAGCCTC CCTTCCACTCCCCCCACCCCTGATGCCATGCCTCCCTTCCACTCTCCCCA CCCCTGGTCCCAGCCTCCCTTCCACTCCCCCAACCCCTGATCCCACACCT CCCTTCCACTCCCCCT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03516.hp1 HG02970.hp1 HG03516.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0004 a0001c0009t0051 a0001c0009t0004 a0001c0009t0051	a0001c0009t0004g0140 a0001c0009t0051g0141 a0001c0009t0004g0140 a0001c0009t0051g0141	2	3	0.6667	415	c.39+ others(432): Show c.39+23601_39+23602insGGCCGTGCCTCCTTTCCACTCCCCCAAC CCCTGGTCCCAACCTCCCTTCCGCTCCCCCAACCCCTGATCCCACACCTC CCTTCCACTCCCCCCACCCCTGATGCCATGCCTCCTTTCCACTCCCCCCA CCGCTGGTCCCAGCCTCCCTTCCACTCCTCCCACCCGGCTTCCATTCCTG GCCCCAGCCTCCCTTCCACTCCCCCCACCCCTGATCCCACACCTCCCTTC CACTCCCCCCACCCCTGATGCCATGCCTCCCTTCCACTCCCCCCACCGCT GGTCCCAGCCTCCCTTCCACTCCCCCCACCCCTGATGCCATGCCTCCCTT CCACTCTCCCCACCCCTGGTCCCAGCCTCCCTTCCACTCCCCCAACCCCT GATCCCACACCTCCCTTCCACTCCCCCTACCCCTGAT		ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP13A3_chr3_194397677_194492002	194421126	A A	ATATATAT others(408): Show ATATATATATATATATATATATAGTTTATATATATATAGTTTATATATAT ATAAACTATATATATAGTATATATATAAACTATATATATAGTATATATAT ATACTATATATATAGTATATATATATACTATATATATAGTATATATATAT ACTATATATAGTTTATATATATATACTATATATATAGTTTATATATATAT ATACTATATATAGTATATATATATATAAACTATATATATAGTTTATATAT ATATAAACTATATATATAGTTTATATATATATAAACTATATATATAGTTT ATATATATATAAACTATATATATAGTTTATATATATATAAACTATATATA TAGTTTATATATATATACTATATATAGTTTATATATATATACTATATATA TAGTATATATATATAC	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0267 a0001c0001t0006g0267	1	288	0.0035	415	c.331 others(434): Show c.3314-1160_3314-1159insGTATATATATATACTATATATATAGT ATATATATATAAACTATATATAGTATATATATATAAACTATATATATAGT TTATATATATATAAACTATATATATAGTTTATATATATATAAACTATATA TATAGTTTATATATATATAAACTATATATATAGTTTATATATATATAAAC TATATATATAGTTTATATATATATATACTATATATAGTATATATATATAT AAACTATATATATAGTATATATATATAAACTATATATAGTATATATATAT ACTATATATATAGTATATATATATACTATATATATAGTATATATATATAC TATATATATAGTTTATATATATACTATATATATAGTTTATATATATATAA ACTATATATATATAAACTATATATATATATATATATATA		ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33						chr3	TogoVar
C2CD4C_chr19_400445_414147	404125	T T	TGGGGGGG others(408): Show TGGGGGGGGGGGGGACGGGGCCCTGCCCCGAGGGGTGTGGGGGGGGGGGG GACGGGGCCCTGCCCCGAGGGGTGTGGGGGGGGGGGGGACGGGGCCCTGC CCCGAGGGGGTGTGGGGGGGGGGGGGACGGGGCCCTGCCCCGAGGGGTGT GGGGGGGGGGGGGACGGGGCCCTGCCCCGAGGGGTGTGGGGGGGGGGGGG GACGGGGCCCTGCCCCGAGGGGTGTGGGGGGGGGGGGGGACGGGGCCCTG CCCCGAGGGGTGTGGGGGGGGGGGGACGGGGCCCTGCCCCGAGGGGTGTG GGGGGGGGGGGGACGGGGCCCTGCCCCGAGGGGTGTGGGGGGGGGGGGGA CGGGGCCCTGCCCCGAGGGGTGTGGGGGGGGGGGGGACGGGGCCCTGCCC CGAGGGGTGTGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0086 a0001c0001t0036g0086	1	184	0.0054	415	c.29 others(426): Show c.2970_*2971insCCCCCCACACCCCTCGGGGCAGGGCCCCGTCCCC CCCCCCCCCACACCCCTCGGGGCAGGGCCCCGTCCCCCCCCCCCCCACAC CCCTCGGGGCAGGGCCCCGTCCCCCCCCCCCCCACACCCCTCGGGGCAGG GCCCCGTCCCCCCCCCCCCACACCCCTCGGGGCAGGGCCCCGTCCCCCCC CCCCCCCACACCCCTCGGGGCAGGGCCCCGTCCCCCCCCCCCCCCACACC CCTCGGGGCAGGGCCCCGTCCCCCCCCCCCCCACACCCCTCGGGGCAGGG CCCCGTCCCCCCCCCCCCCACACCCCCTCGGGGCAGGGCCCCGTCCCCCC CCCCCCCACACCCCTCGGGGCAGGGCCCCGTCCCCCCCCCCCCCACACCC CTCGGGGCAGGGCCCCGTCCCCCCCCCCCCC		C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding					1319		chr19	TogoVar
CACNA1H_chr16_1148106_1226768	1185658	A A	ATAGGGCC others(408): Show ATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCA TGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCG GCATGCATAGGGGCCGGGGGCGGGGTACGTGGGGGGCGGGTGAGTAGACG GTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGTGAGTAG ACGGTCGGCATGCATAGGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGA GTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGG TGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGC GGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGC GGGTGAGTAGACGGCG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0013 a0013	a0013c0134 a0013c0134	a0013c0134t0003 a0013c0134t0003	a0013c0134t0003g0314 a0013c0134t0003g0314	1	103	0.0097	415	c.300 others(432): Show c.300-9309_300-9308insCCGGGGGCGGGGTACGTGGGGGGCGGGT GAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCG GGTGAGTAGACGGTCGGCATGCATAGGGGCCGGGGGCGGGGTACGTGGGG GGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTG GGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGGCCGGGGGCGGGGTA CGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGG GTACGTGGGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGC GGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGC GGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGG		CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34					INFO_REALIGN_3_PRIME	chr16	TogoVar
CCDC63_chr12_110841987_110912535	110905917	A A	ATATATAA others(408): Show ATATATAATATATATTATATATAATATATATTATATTATATATAATATAT ATTATATAAAATATATATTATATTATATATAATATATATTATATAAAATA TATATTATATTATATATAATATATATTATATAAAATATATATTATATTAT ATATAATATATATTATATAAAATATATATTATATTATATATAATATATAT TATATATAATATATATTATATTATATAATATATATTATATAAAATATATA TTATATTATATATAATATATATTTTATAAAATATATATTATATTATATAA TATATATTTTATAAAATATATATTATATTATATATAATATATATTATATA AAATATATATTATATTATATAATATATATTATATATAATATATATTATAT AAAATATATATTATAT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0260 a0001c0001t0003g0260	1	92	0.0109	415	c.154 others(434): Show c.1546+1146_1546+1147insTAATATATATTATATTATATATAATA TATATTATATAAAATATATATTATATTATATATAATATATATTATATAAA ATATATATTATATTATATATAATATATATTATATAAAATATATATTATAT TATATATAATATATATTATATAAAATATATATTATATTATATATAATATA TATTATATATAATATATATTATATTATATAATATATATTATATAAAATAT ATATTATATTATATATAATATATATTTTATAAAATATATATTATATTATA TAATATATATTTTATAAAATATATATTATATTATATATAATATATATTAT ATAAAATATATATTATATTATATAATATATATTATATATAATATATATTA TATAAAATATATATTATATTATATAATATATATTATATA		CCDC63	ENSG00000173093.13	transcript	ENST00000308208.10	protein_coding	11/11					INFO_REALIGN_3_PRIME	chr12	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(408): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCCCT CCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCC CTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCC CCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCC CTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTC CCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTC CCCTCCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	12	0.0833	415	c.-45 others(436): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCC CCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCC TCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCC CTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCC CCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCC CCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTT CCCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCC		CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr5	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(408): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTT CCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCC CCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCTTCTT CCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTC CCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCT CCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTT ACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCC CTCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0001 a0001c0002t0008g0001	1	8	0.1250	415	c.69 others(426): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCT CCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTC CCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTC CTTCTTCCTCTTCTTCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCC CCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTC TCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTT CCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCT CTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC		CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding					4830		chr9	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(408): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCC CTTCCCCCTTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCCTC CGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTT CCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCC CCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCT CCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTC CCCCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTT ACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCC CTCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0003 a0001c0003t0004g0003	1	8	0.1250	415	c.69 others(426): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTCCGTCCCCCTTCCTC CCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCT CCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCT TCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCT TCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTC CCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTT CCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCT CTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC		CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding					4830		chr9	TogoVar
CHTF18_chr16_783620_803074	795580	G G	GCCCTTCT others(408): Show GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCC CCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCA CACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCCCCCCCGTGCTGCCCGTGTGGCTGCC CACTCCCCATGCCCCCCCCATGCTGCCCGTGTGGCTGTCCCCTCCCCCGT GCCCCCCCCGTGCTGCCCGTGTGGGTGCCCCTGGCCCCGTGCCGCCCCGC CCCTCCCCTCCCCCCC	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA20905.hp2 HG03486.hp1 NA20905.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0026 a0004c0005t0002g0221 a0004c0005t0002g0026 a0004c0005t0002g0221	2	247	0.0081	415	c.217 others(432): Show c.2176-102_2176-101insTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCT GCCCCCGGCCCCGTGCCCCCCCCCCCCAACCACACTGCCCGTGTGGCTGC CCCCGGCCCCGTGCCCCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCC CCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCGT GCTGCCCGTGTGGCTGCCCACTCCCCATGCCCCCCCCATGCTGCCCGTGT GGCTGTCCCCTCCCCCGTGCCCCCCCCGTGCTGCCCGTGTGGGTGCCCCT GGCCCCGTGCCGCCCCGCCCCTCCCCTCCCCCCCCCC		CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21					INFO_REALIGN_3_PRIME	chr16	TogoVar
CHTF18_chr16_783620_803074	795580	G G	GCCCTTCT others(408): Show GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCC CCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCC ACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCAACCACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCGTGCTGCCCGTGTGGCTGC CCACTCCCCATGCCCCCCCCATGCTGCCCGTGTGGCTGTCCCCTCCCCCG TGCCCCCCCCGTGCTGCCCGTGTGGGTGCCCCTGGCCCCGTGCCGCCCCG CCCCTCCCCTCCCCCC	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0224 a0004c0005t0002g0224	1	246	0.0041	415	c.217 others(432): Show c.2176-102_2176-101insTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCT GCCCCCGGCCCCGTGCCCCCCCCCCCCCAACCACACTGCCCGTGTGGCTG CCCCCGGCCCCGTGCCCCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCC CCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCG TGCTGCCCGTGTGGCTGCCCACTCCCCATGCCCCCCCCATGCTGCCCGTG TGGCTGTCCCCTCCCCCGTGCCCCCCCCGTGCTGCCCGTGTGGGTGCCCC TGGCCCCGTGCCGCCCCGCCCCTCCCCTCCCCCCCCC		CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21					INFO_REALIGN_3_PRIME	chr16	TogoVar
CHTF18_chr16_783620_803074	795580	G G	GCCCTTCT others(408): Show GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCC CCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCC ACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCGTGCTGCCCGTGTGGCTGC CCACTCCCCATGCCCCCCCCATGCTGCCCGTGTGGCTGTCCCCTCCCCCG TGCCCCCCCCGTGCTGCCCGTGTGGGTGCCCCTGGCCCCGTGCCGCCCCG CCCCTCCCCTCCCCCC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03654.hp1 HG03669.hp1 HG02258.hp1 HG03654.hp1 HG03669.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0012 a0004c0005t0002g0220 a0004c0005t0002g0223 a0004c0005t0002g0012 a0004c0005t0002g0220 a0004c0005t0002g0223	3	248	0.0121	415	c.217 others(432): Show c.2176-102_2176-101insTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCT GCCCCCGGCCCCGTGCCCCCCCCCCCCCAACCACACTGCCCGTGTGGCTG CCCCCGGCCCCGTGCCCCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCC CCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCG TGCTGCCCGTGTGGCTGCCCACTCCCCATGCCCCCCCCATGCTGCCCGTG TGGCTGTCCCCTCCCCCGTGCCCCCCCCGTGCTGCCCGTGTGGGTGCCCC TGGCCCCGTGCCGCCCCGCCCCTCCCCTCCCCCCCCC		CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21					INFO_REALIGN_3_PRIME	chr16	TogoVar
CNOT3_chr19_54132762_54160681	54133829	C C	CCCTCCCT others(408): Show CCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCC CTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCC CTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCA CCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTC CCTCTCCACCTCCCCTCTCTCCCTCCCTCTCTCCACCTCCCCTGTCTCCA CCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTGTCCC TCCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCC TCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCC ACCTCCCCTCTCTCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0114 a0001c0005t0001g0114	1	68	0.0147	415	c.-42 others(426): Show c.-4215_-4214insCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCC CTCTCTCCACCTCCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCT CTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCT CCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCC CTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCTCCA CCTCCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTC CCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCC TCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTC TCCCTCCCTCTCTCCACCTCCCCTCTCTCTG		CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding					3932		chr19	TogoVar
CNST_chr1_246561456_246673595	246576200	A A	ACTCCAGC others(408): Show ACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAA AAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAACTGGTGG GGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACATCATGTT TTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00639.hp2 HG01074.hp1 others(32): Show HG00323.hp1 HG00639.hp2 HG01074.hp1 HG02004.hp1 HG02040.hp1 HG02074.hp2 HG02080.hp1 HG02129.hp1 HG02523.hp1 HG02559.hp1 HG02683.hp2 HG02698.hp2 HG02735.hp1 HG02818.hp2 HG03195.hp1 HG03225.hp1 HG03688.hp2 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18944.hp1 NA18946.hp2 NA18948.hp2 NA18966.hp1 NA18978.hp2 NA18979.hp2 NA18983.hp2 NA19011.hp2 NA19043.hp2 NA19085.hp2 NA19086.hp2 NA20752.hp1 NA20752.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0009	a0001c0001 a0002c0002 a0004c0004 others(1): Show a0001c0001 a0002c0002 a0004c0004 a0009c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0007 a0004c0004t0003 a0009c0013t0001	a0001c0001t0001g0119 a0001c0001t0001g0125 a0001c0001t0002g0127 others(31): Show a0001c0001t0001g0119 a0001c0001t0001g0125 a0001c0001t0002g0127 a0001c0001t0003g0109 a0001c0001t0003g0142 a0002c0002t0001g0004 a0002c0002t0001g0095 a0002c0002t0001g0108 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0118 a0002c0002t0001g0120 a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0001g0126 a0002c0002t0001g0128 a0002c0002t0001g0131 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0198 a0002c0002t0002g0112 a0002c0002t0002g0121 a0002c0002t0007g0140 a0002c0002t0007g0141 a0004c0004t0003g0117 a0009c0013t0001g0136	35	65	0.5385	415	c.-52 others(432): Show c.-52+9549_-52+9550insTGACAAGAGCGAGACTCTGTCTCAAAAA AAAAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTAT AACTGGTGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCA CATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGC CTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAG GAGATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAAA ATACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTAC TCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGC AGTGAGCCGAGATCCCGCCACTGCGCTCCAGCCTGGG		CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246576200	A A	ACTCCAGC others(408): Show ACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAA AAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAACTGGTGG GGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACATCATGTT TTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02897.hp1 NA20129.hp1 HG01243.hp2 HG02897.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0016 a0001c0001t0001 a0001c0001t0004 a0001c0001t0016	a0001c0001t0001g0132 a0001c0001t0004g0134 a0001c0001t0016g0133 a0001c0001t0001g0132 a0001c0001t0004g0134 a0001c0001t0016g0133	3	33	0.0909	415	c.-52 others(432): Show c.-52+9549_-52+9550insTGACAAGAGCGAGACTCTGTCTCAAAAA AAAAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTAT AACTGGTGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCA CATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGC CTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAG GAGATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAAA ATACAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTAC TCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGC AGTGAGCCGAGATCCCGCCACTGCGCTCCAGCCTGGG		CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr1	TogoVar
COL6A1_chr21_45976770_46010048	45999935	T T	TGGGAAGA others(408): Show TGGGAAGACCCGTGAGGATCATGGGGGGGACGTGTGAGGATCATAGGGGA GACCCGTGAGGGTCATGGGGGGATGTGTGAGGATCATGGGGGGGGAAGTG TGAGGATCATGGGGGGATGTGTGAGGATCATAGAGGGGACATGTGAGGAT CATGGAGGGCATGTGAGGATCATGGGGGGGACCCGTGAGGATCATGGGGG ACATGTGAGGATCATGGGGGACATGTGAGGATCATGGAGGGCATGTGAGG ATCATGGAGGGCATGTGAGGATCATGGAGGGCATGTGAGGATCATGGGGG ACATGTGAGGATCATGGGAAGACGTGAGGATCATGGGGGGGACGTGTGAG GATCATGGGGGGACCCATGAGGGTCATGGGGGGACGTGAGGATTGGGGGG ACCCGTGAGGATCATG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0001	a0001c0018t0001g0049 a0001c0018t0001g0049	1	23	0.0435	415	c.177 others(432): Show c.1776+246_1776+247insAAGACCCGTGAGGATCATGGGGGGGACG TGTGAGGATCATAGGGGAGACCCGTGAGGGTCATGGGGGGATGTGTGAGG ATCATGGGGGGGGAAGTGTGAGGATCATGGGGGGATGTGTGAGGATCATA GAGGGGACATGTGAGGATCATGGAGGGCATGTGAGGATCATGGGGGGGAC CCGTGAGGATCATGGGGGACATGTGAGGATCATGGGGGACATGTGAGGAT CATGGAGGGCATGTGAGGATCATGGAGGGCATGTGAGGATCATGGAGGGC ATGTGAGGATCATGGGGGACATGTGAGGATCATGGGAAGACGTGAGGATC ATGGGGGGGACGTGTGAGGATCATGGGGGGACCCATGAGGGTCATGGGGG GACGTGAGGATTGGGGGGACCCGTGAGGATCATGGGG		COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	27/34					INFO_REALIGN_3_PRIME	chr21	TogoVar
DIP2C_chr10_269201_694668	556156	G G	GCACCCAC others(408): Show GCACCCACCCCTCCCACAGCCGGATCCCAGGACGGCACCCACCCACCCCT CCCACAGCCGGATCCGAGGACAGCACCCACCCCTCCCACAGCCGGATCCC AGGACGGCACCCACCCACCCCTCCCACAGCCAGATCCCAGGACGGCACCC ACCCACCCCTCCCACAGCCGGATCCCAGGACGGCACCCACCCACCCCCTC CCACAGCCGGATCCCAGGACGGCACCCACCCACCCCTCCCACAGCCGGAT CCCAGGACAGCACCCACCCACCCCTCCCACAGCCGGATCCCAGGACGGCA CCCACCCACCCCTCCCACAGCCGGATCCCAGGACGGCACCCACCCACCCC TCCCACAGCCGGATCCCAGGACGGCACCCACCCACCCCTCCCACAGCCGG ATCCCAGGACGGCACC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	74	0.0135	415	c.86- others(432): Show c.86-69627_86-69626insGGTGCCGTCCTGGGATCCGGCTGTGGGA GGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGG TGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCCGTCCTGGG ATCCGGCTGTGGGAGGGGTGGGTGGGTGCTGTCCTGGGATCCGGCTGTGG GAGGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGGTGGGT GGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCCGTCCT GGGATCTGGCTGTGGGAGGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTG TGGGAGGGGTGGGTGCTGTCCTCGGATCCGGCTGTGGGAGGGGTGGGTGG GTGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTG		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36						chr10	TogoVar
DNAH10_chr12_123757301_123940714	123911548	G G	GGGGGGTC others(408): Show GGGGGGTCTGTCCCGGGGGGACTGTCCTGGGGGGTCTGTCCCAGGGGATC TGTCCTGGGGGGGGTCTGTCCCGGGGGGTCTGTCCTGGGGGGACTGTCCT GGGGGGATCTGTCCTGGGGGGGTCTGTCCTGGGGGCATCCGTCCTGGGGG GGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGATCTGTCCTGGGGGGTTTG TCCTGGGGGAGTCTGTCCTGGGGGTGGTCTGTCCTGGAGGAGTCTGTCCT GGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCCGGGGGGGTCTGTCCCGGG GGGACTGTCCTGGGGGGGTCTGTCCTGGGGGCGTCTGTCCTGGGGGTGGT CTGTCCTGGGGGGGGTCTGTCCCGGGGGGGTCTGTCCCAGGGGATCTGTC CTTGGGGGACTGTCCT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0042 a0042	a0042c0075 a0042c0075	a0042c0075t0001 a0042c0075t0001	a0042c0075t0001g0124 a0042c0075t0001g0124	1	162	0.0062	415	c.101 others(434): Show c.10134+878_10134+879insGGGTCTGTCCCGGGGGGACTGTCCTG GGGGGTCTGTCCCAGGGGATCTGTCCTGGGGGGGGTCTGTCCCGGGGGGT CTGTCCTGGGGGGACTGTCCTGGGGGGATCTGTCCTGGGGGGGTCTGTCC TGGGGGCATCCGTCCTGGGGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGG GGATCTGTCCTGGGGGGTTTGTCCTGGGGGAGTCTGTCCTGGGGGTGGTC TGTCCTGGAGGAGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGGTCTGT CCCGGGGGGGTCTGTCCCGGGGGGACTGTCCTGGGGGGGTCTGTCCTGGG GGCGTCTGTCCTGGGGGTGGTCTGTCCTGGGGGGGGTCTGTCCCGGGGGG GTCTGTCCCAGGGGATCTGTCCTTGGGGGACTGTCCTGG		DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78					INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAI7_chr12_25103289_25200160	25174371	G G	GATATATA others(408): Show GATATATATATGATATATATATCCCATATATATGATATATATATGATATA TATATCCCATATATATGATATATATATGATATATATATCCCATATATATG ATATATATGATATATATATCATATATATGGGATATATATATATCATATAT ATCATATATATGGGATATATATATCATATATATCATATATATGGGATATA TATATCATATATATCATATATATGGGATATATATATCATATATATCATAT ATATGGGATATATATATCATATATATCATATATATGGGATATATATATCA TATATATCATATATATGGGATATATATATCATATATATCATATATATGGG ATATATATATCATATATATGGGATATATATATCATATATATCATATATAT GGGATATATATATCAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	55	0.0182	415	c.22- others(432): Show c.22-13175_22-13174insATGATATATATATCCCATATATATGATA TATATGATATATATATCCCATATATATGATATATATATCCCATATATATG ATATATATGATATATATATCCCATATATATGATATATATGATATATATAT CCCATATATATGATATATATGATATATATATCCCATATATATGATATATA TGATATATATATCCCATATATATGATATATATGATATATATATCCCATAT ATATGATATATATGATATATATATCCCATATATATGATATATATGATATA TATATATCCCATATATATGATATATATATCATATATATCATATATATGGG ATATATATATCATATATATATCATATATATGGGATATATATATCATATAT ATATCATATATATGGGATATATATATCATATATATAT		DNAI7	ENSG00000118307.20	transcript	ENST00000395987.8	protein_coding	2/15						chr12	TogoVar
DNAJB6_chr7_157332004_157422439	157369638	T T	TTTCTTCA others(408): Show TTTCTTCACATTATTATTAAACAGGCCCCTTCTTAACATTATTATTAAAC AGGCCTTTCATAACGTTATTATTAAACGGGCCCCTTCTTCACATTATTAT TAAACAGGCCCCTTCTTAACATTATTATTAAACAGGCCTTTCATAACGTT ATTATTAAACGGGCCCCTTCTTCACATTATTATTAAACAGGCCCCTTCTT AACATTATTATTAAACAGGCCTTTCATAACGTTATTATTAAACGGGCCCC TTCTTCACATTATTATTAAACAGGCCCCTTCTTAACATTATTATTAAACA GGCCTTTCATAACGTTATTATTAAACGGGCCCCTTCTTCACATTATTACT AAACAGGCCCCTTCTTAACATTATTATTAAACAGGCCTTTCATAACATTA TTATTAAACGGGCCCC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0153 a0001c0003t0006g0153	1	356	0.0028	415	c.346 others(432): Show c.346+2301_346+2302insGTTATTATTAAACGGGCCCCTTCTTCAC ATTATTATTAAACAGGCCCCTTCTTAACATTATTATTAAACAGGCCTTTC ATAACGTTATTATTAAACGGGCCCCTTCTTCACATTATTATTAAACAGGC CCCTTCTTAACATTATTATTAAACAGGCCTTTCATAACGTTATTATTAAA CGGGCCCCTTCTTCACATTATTACTAAACAGGCCCCTTCTTAACATTATT ATTAAACAGGCCTTTCATAACATTATTATTAAACGGGCCCCTTCTTCACA TTATTATTAAACAGGCCCCTTCTTAACATTATTATTAAACAGGCCTTTCA TAACGTTATTATTAAACGGGCCCCTTCTTCACATTATTATTAAACAGGCC CCTTCTTAACATTATTATTAAACAGGCCTTTCATAAC		DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding	5/9					INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAJB6_chr7_157332004_157422439	157369638	T T	TTTCTTCA others(408): Show TTTCTTCACATTATTATTAAACAGGCCCCTTCTTAACATTATTATTAAAC AGGCCTTTCATAACGTTATTATTAAACGGGCCCCTTCTTCACATTATTAT TAAACAGGCCCCTTCTTAACATTATTATTAAACAGGCCTTTCATAACGTT ATTATTAAACGGGCCCCTTCTTCACATTATTATTAAACAGGCCCCTTCTT AACATTATTATTAAACAGGCCTTTCATAACGTTATTATTAAACGGGCCCC TTCTTCACATTATTATTAAACAGGCCCCTTCTTAACATTATTATTAAACA GGCCTTTCATAACGTTATTATTAAACGGGCCCCTTCTTCACATTGTTATT AAAGAGGCCCCTTCTTAACATTATTATTAAACAGGCCTTTCATAACGTTA TTATTAAACGGGCCCC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00735.hp1 HG02647.hp2 HG00733.hp1 HG00735.hp1 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0008g0353 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0008g0353	3	358	0.0084	415	c.346 others(432): Show c.346+2301_346+2302insGTTATTATTAAACGGGCCCCTTCTTCAC ATTATTATTAAACAGGCCCCTTCTTAACATTATTATTAAACAGGCCTTTC ATAACGTTATTATTAAACGGGCCCCTTCTTCACATTATTATTAAACAGGC CCCTTCTTAACATTATTATTAAACAGGCCTTTCATAACGTTATTATTAAA CGGGCCCCTTCTTCACATTGTTATTAAAGAGGCCCCTTCTTAACATTATT ATTAAACAGGCCTTTCATAACGTTATTATTAAACGGGCCCCTTCTTCACA TTATTATTAAACAGGCCCCTTCTTAACATTATTATTAAACAGGCCTTTCA TAACGTTATTATTAAACGGGCCCCTTCTTCACATTATTATTAAACAGGCC CCTTCTTAACATTATTATTAAACAGGCCTTTCATAAC		DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding	5/9					INFO_REALIGN_3_PRIME	chr7	TogoVar
DOC2B_chr17_137789_186650	140843	T T	TTGGTGAG others(408): Show TTGGTGAGGGGACATGGTGAGGAGGACCTGGTGAGGGGACATGGTGAGGG GACATGGTGAGGGGAGCATGGTGAGGAGGACCTGGTGAGGGGACCTGGTG AGGAGGACCTGCTGAGGGGACCTGGGGGGGACCTTGGTGAGGGGACATGG TGAGGAGGACCTGGTGAGGGGACATGGTGAGGGGAGCATGGTGAGGGGAA CATGGGTGGGGAGCCTTGGTGAGGGGACCTGGTGAGGAGGACCTGGTGAG GGGAACATGGGTGGGACCTTGGTGAGGAGGACCTGGTGAGGGGAACATGG GTGGGACCTTGGTGAGGGGACCTGGTGAGGAGGACCTGGGGGGGACCTTG GTGAGGGGACATGGTGAGGGGAGCATGGTGAGGAGGACCTGGTGAGGGGA CCTGGTGAGGGGGACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00733.hp1 HG00280.hp2 HG00733.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0277 a0001c0002t0016g0278 a0001c0002t0016g0277 a0001c0002t0016g0278	2	338	0.0059	415	c.65 others(426): Show c.6597_*6598insGGTCCCCCTCACCAGGTCCCCTCACCAGGTCCTC CTCACCATGCTCCCCTCACCATGTCCCCTCACCAAGGTCCCCCCCAGGTC CTCCTCACCAGGTCCCCTCACCAAGGTCCCACCCATGTTCCCCTCACCAG GTCCTCCTCACCAAGGTCCCACCCATGTTCCCCTCACCAGGTCCTCCTCA CCAGGTCCCCTCACCAAGGCTCCCCACCCATGTTCCCCTCACCATGCTCC CCTCACCATGTCCCCTCACCAGGTCCTCCTCACCATGTCCCCTCACCAAG GTCCCCCCCAGGTCCCCTCAGCAGGTCCTCCTCACCAGGTCCCCTCACCA GGTCCTCCTCACCATGCTCCCCTCACCATGTCCCCTCACCATGTCCCCTC ACCAGGTCCTCCTCACCATGTCCCCTCACCA		DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding					1945		chr17	TogoVar
DPYSL2_chr8_26509031_26663175	26556354	A A	ATATATAT others(408): Show ATATATATAGTATATATATAGTATATATATAGTATATATATAGTATATAT ATAGTATATATATAGTATATATATAGTATATATATAGTATATATATAGTA TATATATATAGTATATATATAGTATATATATAGTATATATATATAGTATA TATATAGTATATATATATAGTGTATATATATAGTATATATATATATAGTG TATATATATAGTATATATATAGTATATATATAGTATATATAGTATATATG TATATATATATAGTATATATATAGTATATATATATAGTATATATATAGTA TATATATATAGTATATATATAGTATATATATATAGTATATATATAGTATA TATATAGTATATATATATAGTATATATATAGTATATATATAGTATATATA TATAGTATATATATAG	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0181 a0001c0002t0001g0181	1	172	0.0058	415	c.355 others(434): Show c.355-25607_355-25606insGTATATATATAGTATATATATAGTAT ATATATAGTATATATATAGTATATATATAGTATATATATAGTATATATAT AGTATATATATAGTATATATATATAGTATATATATAGTATATATATAGTA TATATATATAGTATATATATAGTATATATATATAGTGTATATATATAGTA TATATATATATAGTGTATATATATAGTATATATATAGTATATATATAGTA TATATAGTATATATGTATATATATATAGTATATATATAGTATATATATAT AGTATATATATAGTATATATATATAGTATATATATAGTATATATATATAG TATATATATAGTATATATATAGTATATATATATAGTATATATATAGTATA TATATAGTATATATATATAGTATATATATAGTATATATA		DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr8	TogoVar
FAM200A_chr7_99541300_99557114	99549037	C C	CGCCTGGC others(408): Show CGCCTGGCTAATTTTGTATTTTTAGCAGAGATGGGGTTTCTCTATGTTGG TCAGGGCTGGTCTCGAACTCCCGACCTCAGATGATCCGCCTGCTTCAGCC TCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCCGATCTA GTCACTCTTATAAATGATCATCAAGGCCGGGCACGGTGGCTCACGCCTGT AACCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACATAGTGAAACACTGTCTCTACTAAAAATAC AAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCGCAGCTGCTCG GGAGGCTGAGGCAGGAGAATGGGAGGCAGACTTTGTAGTGAGCCGAGATT GGGCCACTGCACTCCA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02486.hp1 HG02717.hp1 others(3): Show HG02055.hp2 HG02486.hp1 HG02717.hp1 HG03471.hp1 HG03486.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	6	325	0.0185	415	c.-99 others(430): Show c.-99-532_-99-531insTGGAGTGCAGTGGCCCAATCTCGGCTCACT ACAAAGTCTGCCTCCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGCGAC TACAGGCGCCCGCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGA GACAGTGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCAT GATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCA CCGTGCCCGGCCTTGATGATCATTTATAAGAGTGACTAGATCGGCCAGGC ACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGCAGGCG GATCATCTGAGGTCGGGAGTTCGAGACCAGCCCTGACCAACATAGAGAAA CCCCATCTCTGCTAAAAATACAAAATTAGCCAGGC		FAM200A	ENSG00000221909.3	transcript	ENST00000449309.2	protein_coding	1/1						chr7	TogoVar
FAM200A_chr7_99541300_99557114	99549037	C C	CGCCTGGC others(408): Show CGCCTGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCTATGTTGG TCAGGGCTGGTCTCGAACTCCCGACCTCAGATGATCCGCCTGCTTCAGCC TCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCCGATCTA GTCACTCTTATAAATGATCATCAAGGCCGGGCACGGTGGCTCACGCCTGT AACCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACATAGTGAAACACTGTCTCTACTAAAAATAC AAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCGCAGCTGCTCG GGAGGCTGAGGCAGGAGAATGGGAGGCAGACTTTGTAGTGAGCCGAGATT GGGCCACTGCACTCCA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0035 a0001c0002t0001g0035	1	320	0.0031	415	c.-99 others(430): Show c.-99-532_-99-531insTGGAGTGCAGTGGCCCAATCTCGGCTCACT ACAAAGTCTGCCTCCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGCGAC TACAGGCGCCCGCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGA GACAGTGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCAT GATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCA CCGTGCCCGGCCTTGATGATCATTTATAAGAGTGACTAGATCGGCCAGGC ACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGCAGGCG GATCATCTGAGGTCGGGAGTTCGAGACCAGCCCTGACCAACATAGAGAAA CCCCGTCTCTACTAAAAATACAAAATTAGCCAGGC		FAM200A	ENSG00000221909.3	transcript	ENST00000449309.2	protein_coding	1/1						chr7	TogoVar
FAM200A_chr7_99541300_99557114	99549037	C C	CGCCTGGC others(408): Show CGCCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCTATGTTGG TCAGGGCTGGTCTCGAACTCCCGACCTCAGATGATCCGCCTGCTTCAGCC TCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCTGGCCGATCTA GTCACTCTTATAAATGATCATCAAGGCCGGGCACGGTGGCTCACGCCTGT AACCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACATAGTGAAACACTGTCTCTACTAAAAATAC AAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCGCAGCTGCTCG GGAGGCTGAGGCAGGAGAATGGGAGGCAGACTTTGTAGTGAGCCGAGATT GGGCCACTGCACTCCA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00639.hp1 HG01069.hp1 others(37): Show HG00323.hp1 HG00639.hp1 HG01069.hp1 HG01070.hp1 HG01074.hp1 HG01123.hp1 HG01243.hp1 HG01346.hp2 HG01516.hp2 HG01517.hp1 HG02083.hp2 HG02109.hp2 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02486.hp2 HG02622.hp1 HG02630.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03486.hp2 HG03540.hp2 HG03654.hp2 HG03669.hp2 NA18522.hp2 NA19030.hp1 NA19043.hp2 NA19240.hp1 NA20300.hp1 NA20752.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0026 others(3): Show a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0044 a0001c0005t0001g0036	40	359	0.1114	415	c.-99 others(430): Show c.-99-532_-99-531insTGGAGTGCAGTGGCCCAATCTCGGCTCACT ACAAAGTCTGCCTCCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGCGAC TACAGGCGCCCGCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGA GACAGTGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCAT GATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCA CCGTGCCCGGCCTTGATGATCATTTATAAGAGTGACTAGATCGGCCAGGC ATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGCAGGCG GATCATCTGAGGTCGGGAGTTCGAGACCAGCCCTGACCAACATAGAGAAA CCCCATCTCTACTAAAAATACAAAATTAGCCAGGC		FAM200A	ENSG00000221909.3	transcript	ENST00000449309.2	protein_coding	1/1						chr7	TogoVar
FAM200A_chr7_99541300_99557114	99549037	C C	CGCCTGGC others(408): Show CGCCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCTATGTTGG TCAGGGCTGGTCTCGAACTCCCGACCTCAGATGATCCGCCTGCTTCAGCC TCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCCGATCTA GTCACTCTTATAAATGATCATCAAGGCCGGGCACGGTGGCTCACACCTGT AACCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACATAGTGAAACACTGTCTCTACTAAAAATAC AAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCGCAGCTGCTCG GGAGGCTGAGGCAGGAGAATGGGAGGCAGACTTTGTAGTGAGCCGAGATT GGGCCACTGCACTCCA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0037 a0001c0002t0001g0037	1	320	0.0031	415	c.-99 others(430): Show c.-99-532_-99-531insTGGAGTGCAGTGGCCCAATCTCGGCTCACT ACAAAGTCTGCCTCCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGCGAC TACAGGCGCCCGCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGA GACAGTGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCAT GATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGGTTACAGGTGTGAGCCA CCGTGCCCGGCCTTGATGATCATTTATAAGAGTGACTAGATCGGCCAGGC ACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGCAGGCG GATCATCTGAGGTCGGGAGTTCGAGACCAGCCCTGACCAACATAGAGAAA CCCCATCTCTACTAAAAATACAAAATTAGCCAGGC		FAM200A	ENSG00000221909.3	transcript	ENST00000449309.2	protein_coding	1/1						chr7	TogoVar
FAM200A_chr7_99541300_99557114	99549037	C C	CGCCTGGC others(408): Show CGCCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCTATGTTGG TCAGGGCTGGTCTCGAACTCCCGACCTCAGATGATCCGCCTGCTTCAGCC TCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCCGATCTA GTCACTCTTATAAATGATCATCAAGGCCGGGCACGGTGGCTCACGCCTGT AACCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACATAGTGAAACACTGTCTCTACTAAAAATAC AAAAAAATTAGCTGGGCGTGGTGGCGGGCACCTGTAGTCGCAGCTGCTCG GGAGGCTGAGGCAGGAGAATGGGAGGCAGACTTTGTAGTGAGCCGAGATT GGGCCACTGCACTCCA	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18950.hp1 NA18946.hp2 NA18950.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0017 a0001c0002t0001g0017	2	321	0.0062	415	c.-99 others(430): Show c.-99-532_-99-531insTGGAGTGCAGTGGCCCAATCTCGGCTCACT ACAAAGTCTGCCTCCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGCGAC TACAGGTGCCCGCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGA GACAGTGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCAT GATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCA CCGTGCCCGGCCTTGATGATCATTTATAAGAGTGACTAGATCGGCCAGGC ACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGCAGGCG GATCATCTGAGGTCGGGAGTTCGAGACCAGCCCTGACCAACATAGAGAAA CCCCATCTCTACTAAAAATACAAAATTAGCCAGGC		FAM200A	ENSG00000221909.3	transcript	ENST00000449309.2	protein_coding	1/1						chr7	TogoVar
FAM200A_chr7_99541300_99557114	99549037	C C	CGCCTGGC others(408): Show CGCCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCTATGTTGG TCAGGGCTGGTCTCGAACTCCCGACCTCAGATGATCCGCCTGCTTCAGCC TCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCCGATCTA GTCACTCTTATAAATGATCATCAAGGCCGGGCACGGTGGCTCACGCCTGT AACCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACATAGTGAAACACTGTCTCTACTAAAAATAC AAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCGCAGCTGCTCG GGAGGCTGAGGCAGGAGAATGGGAGGCAGACTTTGCAGTGAGCCGAGATT GGGCCACTGCACTCCA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02630.hp1 HG02886.hp1 others(2): Show HG02572.hp2 HG02630.hp1 HG02886.hp1 HG03098.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	5	324	0.0154	415	c.-99 others(430): Show c.-99-532_-99-531insTGGAGTGCAGTGGCCCAATCTCGGCTCACT GCAAAGTCTGCCTCCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGCGAC TACAGGCGCCCGCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGA GACAGTGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCAT GATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCA CCGTGCCCGGCCTTGATGATCATTTATAAGAGTGACTAGATCGGCCAGGC ACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGCAGGCG GATCATCTGAGGTCGGGAGTTCGAGACCAGCCCTGACCAACATAGAGAAA CCCCATCTCTACTAAAAATACAAAATTAGCCAGGC		FAM200A	ENSG00000221909.3	transcript	ENST00000449309.2	protein_coding	1/1						chr7	TogoVar
FAM200A_chr7_99541300_99557114	99549037	C C	CGCCTGGC others(408): Show CGCCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCTATGTTGG TCAGGGCTGGTCTTGAACTCCCGACCTCAGATGATCCGCCTGCTTCAGCC TCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCCGATCTA GTCACTCTTATAAATGATCATCAAGGCCGGGCACGGTGGCTCACGCCTGT AACCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACATAGTGAAACACTGTCTCTACTAAAAATAC AAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCGCAGCTGCTCG GGAGGCTGAGGCAGGAGAATGGGAGGCAGACTTTGTAGTGAGCCGAGATT GGGCCACTGCACTCCA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0034 a0001c0002t0001g0034	1	320	0.0031	415	c.-99 others(430): Show c.-99-532_-99-531insTGGAGTGCAGTGGCCCAATCTCGGCTCACT ACAAAGTCTGCCTCCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGCGAC TACAGGCGCCCGCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGA GACAGTGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCAT GATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCA CCGTGCCCGGCCTTGATGATCATTTATAAGAGTGACTAGATCGGCCAGGC ACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGCAGGCG GATCATCTGAGGTCGGGAGTTCAAGACCAGCCCTGACCAACATAGAGAAA CCCCATCTCTACTAAAAATACAAAATTAGCCAGGC		FAM200A	ENSG00000221909.3	transcript	ENST00000449309.2	protein_coding	1/1						chr7	TogoVar
FOXQ1_chr6_1307098_1319758	1317226	C C	CCTCCCCC others(408): Show CCTCCCCCCACCCATCCCTCCTCCCGCCCCCCCTCCAGCCTACCCCTCCC CCCGCCCACCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCACCC ATCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCACCCATCCCTC CTCCCGCCCCCCCTCCAGCCTACCCCTCCCCCCACCCACCTCTCCTCCCG CCTCCCCCCCAGCCTACCCCCTCCCCCGCCCACCCCCCTCCCGCCCCCCT CCAGCCTACCCCTCCCCCCGCCCACCCCCTCCTCCCGCCTCCCCCCCAGC CTACCCCCTCCCCCCGCCCACCCACTCCTCCCGCCCCCTCCAGCCTACCC CTCCCCCCGCCCACTTCTCCCGCCCCCCCAGCCTACCCCTCCCCCCGCCC ACCCCTCCTCCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 NA19007.hp2 HG02027.hp1 NA19007.hp2	a0004 a0004	a0004c0003 a0004c0013 a0004c0003 a0004c0013	a0004c0003t0005 a0004c0013t0001 a0004c0003t0005 a0004c0013t0001	a0004c0003t0005g0000 a0004c0013t0001g0000 a0004c0003t0005g0000 a0004c0013t0001g0000	2	115	0.0174	415	c.33 others(426): Show c.3310_*3311insCTCCCCCCACCCATCCCTCCTCCCGCCCCCCCTC CAGCCTACCCCTCCCCCCGCCCACCCCTCCTCCCGCCCCCCTCCAGCCTA CCCCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCC CCCCACCCATCCCTCCTCCCGCCCCCCCTCCAGCCTACCCCTCCCCCCAC CCACCTCTCCTCCCGCCTCCCCCCCAGCCTACCCCCTCCCCCGCCCACCC CCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCCCCTCCTCC CGCCTCCCCCCCAGCCTACCCCCTCCCCCCGCCCACCCACTCCTCCCGCC CCCTCCAGCCTACCCCTCCCCCCGCCCACTTCTCCCGCCCCCCCAGCCTA CCCCTCCCCCCGCCCACCCCTCCTCCCGCCT		FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding					2469		chr6	TogoVar
FOXQ1_chr6_1307098_1319758	1317226	C C	CCTCCCCC others(408): Show CCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCC CCACCCATCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCACCCA TCCCTCCTCCCGCCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCCCCT CCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCACCCACCTCTCCTCCCG CCTCCCCCCCAGCCTACCCCCTCCCCCCGCCCACCCCCCTCCCGCCCCCC TCCAGCCTACCCCTCCCCCCGCCCACCCCCTCCTCCCGCCTCCCCCCCAG CCTACCCCCTCCCCCCGCCCACCCCCTCCTCCCGCCCCCTCCAGCCTATC CCTCCCCCCGCCCACTTCTCCCGCCCCCCCAGCCTACCCCTCCCCCCGCC CACCCCCCTCCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG01069.hp2 HG01071.hp2 others(7): Show HG00741.hp1 HG01069.hp2 HG01071.hp2 HG01261.hp2 HG01516.hp1 HG01928.hp1 HG01943.hp1 HG02109.hp1 HG04199.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0002c0005 a0001c0001 a0002c0004 a0002c0005	a0001c0001t0002 a0002c0004t0001 a0002c0004t0016 others(1): Show a0001c0001t0002 a0002c0004t0001 a0002c0004t0016 a0002c0005t0001	a0001c0001t0002g0000 a0002c0004t0001g0000 a0002c0004t0016g0000 others(1): Show a0001c0001t0002g0000 a0002c0004t0001g0000 a0002c0004t0016g0000 a0002c0005t0001g0000	10	123	0.0813	415	c.33 others(426): Show c.3310_*3311insCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCC AGCCTACCCCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCCAGCCTAC CCCTCCCCCCACCCATCCCTCCTCCCGCCCCCCCTCCAGCCTACCCCTCC CCCCGCCCACCCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCAC CCACCTCTCCTCCCGCCTCCCCCCCAGCCTACCCCCTCCCCCCGCCCACC CCCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCCCCTCCTC CCGCCTCCCCCCCAGCCTACCCCCTCCCCCCGCCCACCCCCTCCTCCCGC CCCCTCCAGCCTATCCCTCCCCCCGCCCACTTCTCCCGCCCCCCCAGCCT ACCCCTCCCCCCGCCCACCCCCCTCCCGCCT		FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding					2469		chr6	TogoVar
FOXQ1_chr6_1307098_1319758	1317226	C C	CCTCCCCC others(408): Show CCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCC CCACCCATCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCACCCA TCCCTCCTCCCGCCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCCCTC CTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCACCCACCTCTCCTCCCGC CTCCCCCCCCAGCCTACCCCCTCCCCCGCCCACCCCCCTCCCGCCCCCCT CCAGCCTACCCCTCCCCCCGCCCACCCCCTCCTCCCGCCTCCCCCCCAGC CTACCCCCTCCCCCCGCCCACCCACTCCTCCCGCCCCCTCCAGCCTACCC CTCCCCCCGCCCACTTCTCCCGCCCCCCCAGCCTACCCCTCCCCCCGCCC ACCCCTCCTCCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	114	0.0088	415	c.33 others(426): Show c.3310_*3311insCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCC AGCCTACCCCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCCAGCCTAC CCCTCCCCCCACCCATCCCTCCTCCCGCCCCCCCTCCAGCCTACCCCTCC CCCCGCCCACCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCACC CACCTCTCCTCCCGCCTCCCCCCCCAGCCTACCCCCTCCCCCGCCCACCC CCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCCCCTCCTCC CGCCTCCCCCCCAGCCTACCCCCTCCCCCCGCCCACCCACTCCTCCCGCC CCCTCCAGCCTACCCCTCCCCCCGCCCACTTCTCCCGCCCCCCCAGCCTA CCCCTCCCCCCGCCCACCCCTCCTCCCGCCT		FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding					2469		chr6	TogoVar
FTCD_chr21_46131779_46160579	46145756	C C	CTTCCCCC others(408): Show CTTCCCCCTCCCCGCCCTCCCCCCCAACAGCGCCCTCCCCCCAACAACTG CGCCCTCCCCTTCCCCCTCCCCGCCCTCCCCCCAACAGCGCCCTCCCCCC AACAACTGCGCCCTCCCCTTCCCCCTCCCCGCCCTCCCCCCAACAGCGCC TTCCCCCCACCCCGCGCTCCCCCCAACAGCGCCCTCCCCCCAACAGCGCC CTCCCCCCAACAGCGCCCTCCCCCCAACAGCGCCCTCCCCTTCCCCCTCC CCGCCCTCCCCCCAACAGCGCCCTTCCCCCTCCCCGCCCTTCCCCCCTCC CCGCCCTCCCCCCAACAGCGCCCTCCCCCCAACAGCGCCCTCCCCCCAAC AGCGCCCTCCCCCCAACAACTGTGCCCTCCCCTTCCCCCTCCCCGCCCTC CCCCCCAACAGCGCCG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0119 a0001c0001t0002g0119	1	110	0.0091	415	c.109 others(430): Show c.1098+61_1098+62insCGGCGCTGTTGGGGGGGAGGGCGGGGAGGG GGAAGGGGAGGGCACAGTTGTTGGGGGGAGGGCGCTGTTGGGGGGAGGGC GCTGTTGGGGGGAGGGCGCTGTTGGGGGGAGGGCGGGGAGGGGGGAAGGG CGGGGAGGGGGAAGGGCGCTGTTGGGGGGAGGGCGGGGAGGGGGAAGGGG AGGGCGCTGTTGGGGGGAGGGCGCTGTTGGGGGGAGGGCGCTGTTGGGGG GAGGGCGCTGTTGGGGGGAGCGCGGGGTGGGGGGAAGGCGCTGTTGGGGG GAGGGCGGGGAGGGGGAAGGGGAGGGCGCAGTTGTTGGGGGGAGGGCGCT GTTGGGGGGAGGGCGGGGAGGGGGAAGGGGAGGGCGCAGTTGTTGGGGGG AGGGCGCTGTTGGGGGGGAGGGCGGGGAGGGGGAA		FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	9/13						chr21	TogoVar
FTCD_chr21_46131779_46160579	46145758	T T	TCCCCCTC others(408): Show TCCCCCTCCCCGCCCTCCCCCCAACAGCGCCCTCCCCCCAACAACTGCGC CCTCCCCTTCCCCCTCCCCGCCCTCCCCCCAACAGCGCCCTCCCCCCAAC AACTGCGCCCTCCCCTTCCCCCTCCCCGCCCTCCCCCCAACAGCGCCTTC CCCCCACCCCGCGCTCCCCCCAACAGCGCCCTCCCCCCAACAGCGCCCTC CCCCCAACAACTGTGCCCTCCCCTTCCCCCTCCCCGCCCTCCCCCCAACA GCGCCTTCCCCCCACCCCGCGCTCCCCCCAACAGCGCCCTCCCCCCAACA GCGCCCTCCCCCCAACAACTGCGCCCTCCCCTTCCCCCTCCCCGCCCTCC CCCCAACAGCGCCCTTCCCCCTCCCCGCCCTCCCCCCAACAGCGCCCTCC CCCCAACAGCGCCCTC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03453.hp2 HG02818.hp1 HG03453.hp2	a0002 a0002	a0002c0004 a0002c0005 a0002c0004 a0002c0005	a0002c0004t0002 a0002c0005t0002 a0002c0004t0002 a0002c0005t0002	a0002c0004t0002g0181 a0002c0005t0002g0129 a0002c0004t0002g0181 a0002c0005t0002g0129	2	213	0.0094	415	c.109 others(430): Show c.1098+59_1098+60insGAGGGCGCTGTTGGGGGGAGGGCGCTGTTG GGGGGAGGGCGGGGAGGGGGAAGGGCGCTGTTGGGGGGAGGGCGGGGAGG GGGAAGGGGAGGGCGCAGTTGTTGGGGGGAGGGCGCTGTTGGGGGGAGGG CGCTGTTGGGGGGAGCGCGGGGTGGGGGGAAGGCGCTGTTGGGGGGAGGG CGGGGAGGGGGAAGGGGAGGGCACAGTTGTTGGGGGGAGGGCGCTGTTGG GGGGAGGGCGCTGTTGGGGGGAGCGCGGGGTGGGGGGAAGGCGCTGTTGG GGGGAGGGCGGGGAGGGGGAAGGGGAGGGCGCAGTTGTTGGGGGGAGGGC GCTGTTGGGGGGAGGGCGGGGAGGGGGAAGGGGAGGGCGCAGTTGTTGGG GGGAGGGCGCTGTTGGGGGGAGGGCGGGGAGGGGG		FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	9/13						chr21	TogoVar
GNG13_chr16_793041_805734	795580	G G	GCCCTTCT others(408): Show GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCC CCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCA CACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCCCCCCCGTGCTGCCCGTGTGGCTGCC CACTCCCCATGCCCCCCCCATGCTGCCCGTGTGGCTGTCCCCTCCCCCGT GCCCCCCCCGTGCTGCCCGTGTGGGTGCCCCTGGCCCCGTGCCGCCCCGC CCCTCCCCTCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 NA20905.hp1 HG03486.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0013 a0001c0001t0002 a0001c0001t0013	a0001c0001t0002g0002 a0001c0001t0013g0048 a0001c0001t0002g0002 a0001c0001t0013g0048	2	244	0.0082	415	c.31 others(426): Show c.3138_*3139insGGGGGGGAGGGGAGGGGCGGGGCGGCACGGGGCC AGGGGCACCCACACGGGCAGCACGGGGGGGGCACGGGGGAGGGGACAGCC ACACGGGCAGCATGGGGGGGGCATGGGGAGTGGGCAGCCACACGGGCAGC ACGGGGGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGG GGGGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGG GCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGGGCACGGGGCCGGGG GCAGCCACACGGGCAGTGTGGTTGGGGGGGGGGGGCACGGGGCCGGGGGC AGCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAG CCACACGGGCAGTGTGGTTGGGGGAGAAGGG		GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding					2460		chr16	TogoVar

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