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
TRAF3IP1_chr2_238315518_238405897	238398143	G G	GGGCCCTG others(504): Show GGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCC TGCAGCAGGAGCAGAGGTGAGGGGTAGTAATGGGGAGGGGGCCCTGCAGC AGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGC AGAGGTGAGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGT GAGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGAGGGG TAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGAGGGGAAGTAA TGGGGAGGGGGCCCTGCAGCAGGAGGAGAGGTGGGGGGTAGCAGGGGGAT ACTGGGGAGGAGGCCCTGCAGCAGGAGCAGAGGCGGGGGGTAGCAGGGGG GTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGGAGAGGTGGGGGGTAGTA ATGGGGGGGTGCCCTGCAGCAGGAGCAGAGTTGGGGGGTAGCAGGAGGGT AATGGGGAGGGT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03209.hp2 HG03130.hp2 HG03209.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0063 a0001c0003t0004g0064 a0001c0003t0004g0063 a0001c0003t0004g0064	2	205	0.0098	511	c.191 others(528): Show c.1910+465_1910+466insGCCCTGCAGCAGGAGCAGAGGTGGGGGG TAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGAGGGGTAGTAA TGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGA GGGGGCCCTGCAGCAGGAGCAGAGGTGAGGGGTAGTAATGGGGAGGGGGC CCTGCAGCAGGAGCAGAGGTGAGGGGTAGTAATGGGGAGGGGGCCCTGCA GCAGGAGCAGAGGTGAGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGA GCAGAGGTGAGGGGAAGTAATGGGGAGGGGGCCCTGCAGCAGGAGGAGAG GTGGGGGGTAGCAGGGGGATACTGGGGAGGAGGCCCTGCAGCAGGAGCAG AGGCGGGGGGTAGCAGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGG AGGAGAGGTGGGGGGTAGTAATGGGGGGGTGCCCTGCAGCAGGAGCAGAG TTGGGGGGTAGCAGGAGGGTAATGGGGAGGGTG	TRAF3IP1	ENSG00000204104.12	transcript	ENST00000373327.5	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
VCX3B_chrX_8459830_8471510	8467180	T T	TGTGGGGA others(504): Show TGTGGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAG GGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGCGGTGGTGTGTG GGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAG GAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGTGTG GGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGG TGTGTGGGGAGGGAGGGAGGGAGGAAGCGGTGGTGTGTGGGGAGGGAGGG AGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGAGGT GTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGGAGGGAGGGAGG GAGGAAGCGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTG TGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGG AGGGAGGAAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0006 a0005c0004t0006	a0005c0004t0006g0004 a0005c0004t0006g0004	1	209	0.0048	511	c.79 others(520): Show c.797_*798insGTGGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTG GGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAA GCGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGA GGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAG GAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGG AGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGCGGTGGTGTG TGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGG AGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGG GGAGGGAGGGAGGGAGGAAGCGGTGGTGTGTGGGGAGGGAGGGAGGGAGG AAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGG GAGGGAGGGAGGGAGGGAGGAAGAG	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		671		chrX	TogoVar
ABCB11_chr2_168915781_169036324	168975303	T T	TTATAGAT others(505): Show TTATAGATAAATATATAAATATATAAATATTTTTATATTTATAGATAAAT ATATAAATATATAAATATTTATATATTTATAGATAAATATATAAATATAT AAATATTTTTATATTTATAGATAAATATATAAATATATAAATATTTTTAT ATTTATAGATAAATATATAAATATATAAATATTTTTATATTTATAGATAA ATATATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATAT TTTTATATTTATAGATAAATATATAAATATTTTTATATTTATAGATAAAT ATATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTT ATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATAT TTTTATATTTATAGATAAATATATAAATATTTTTATATTTATAGATAAAT ATATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTT ATAGATAAATATA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0004 a0004c0009t0004	a0004c0009t0004g0105 a0004c0009t0004g0105	1	280	0.0036	512	c.130 others(531): Show c.1308+1273_1308+1274insTATATTTATCTATAAATATAAAAATA TTTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAAA TATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATATATT TATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAATA TTTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAAA TATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATATATT TATCTATAAATATAAAAATATTTATATATTTATATATTTATCTATAAATA TAAAAATATTTATATATTTATATATTTATCTATAAATATAAAAATATTTA TATATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATATA TTTATCTATAAATATATAAATATTTATATATTTATATATTTATCTATAAA TATAAAAATATTTATATATTTATATATTTATCTATA	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ACAP3_chr1_1287391_1312930	1288275	C C	CCGTGTCT others(505): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCG TCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGT CCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGT GTCCCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0145 a0001c0001t0002g0145	1	255	0.0039	512	c.52 others(523): Show c.5288_*5289insACGGAGCAGGGACACGGGACGGAGCAGAGACACG GGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGACACGGGACGGAGCA GAGACACGGGACGGAGCAGAGACACGGGACGGGGCAGAGACACGGGACGG AGCAGAGACACGGGACGGAGCAGAGACACGGGACGGGGCAGAGACACGGG ACGGAGCAGAGACACGGGACGGAGCAGGGACACGGGACGGGGCAGAGACA CGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGGGGCA GAGACACGGGACGGAGCAGGGACACGGGACGGGGCAGAGACACGGGACGG AGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGGGGCAGAGACACG GGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGGAGCAGA GACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGGG CAGAGACACGGGACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		4115		chr1	TogoVar
AFF2_chrX_148495617_149005663	148581275	T T	TACGTATA others(505): Show TACGTATACGTATACACACATATACGTATACGTATACACACATATACACG TATACGTATACACACATATACACGTATACGTATACACACATATACACGTA TACGTATACGTGTACACACATATACACGTATATACGTATACGTGTACACA CATATACACGTATATACGTATACGTGTACACACATACACGTATATACGTA TACGTGTACACACATATATATACACGTATATATACGTATACGTGTACACA CACACACGTATATATACGTATACGTGTACACACACACGTATATATACGTA TACGTGTACACACACACGTATATATACGTATACGTGTACACACACACGTA TATATACGTATACGTGTACACACACACGTATATATACGTATACGTGTACA CACACACGTATATACGTATACGTGTACACACACACACGTATATACGTATA CGTGTACACACACATACACGTATATACGTATACGTGTACACACATATACA CGTATACGTGTAC	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0061 a0001c0001t0014g0061	1	104	0.0096	512	c.48- others(529): Show c.48-70722_48-70721insGTATACGTATACACACATATACGTATAC GTATACACACATATACACGTATACGTATACACACATATACACGTATACGT ATACACACATATACACGTATACGTATACGTGTACACACATATACACGTAT ATACGTATACGTGTACACACATATACACGTATATACGTATACGTGTACAC ACATACACGTATATACGTATACGTGTACACACATATATATACACGTATAT ATACGTATACGTGTACACACACACACGTATATATACGTATACGTGTACAC ACACACGTATATATACGTATACGTGTACACACACACGTATATATACGTAT ACGTGTACACACACACGTATATATACGTATACGTGTACACACACACGTAT ATATACGTATACGTGTACACACACACGTATATACGTATACGTGTACACAC ACACACGTATATACGTATACGTGTACACACACATACACGTATATACGTAT ACGTGTACACACATATACACGTATACGTGTACAC	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AGMO_chr7_15195317_15567015	15529638	A A	ATATAGTA others(505): Show ATATAGTATATATATTCTATATACAGAATATATATAGTATATATATTCTA TATACAGAATATATATAGTATATATATTCTATATACAGAATATATATAGT ATATATATTCTATATACAGAATATATATAGTATATATATTCTATATACAG AATATATATACTATATATATTCTATATACAGAATATATATAGTATATATA TTCTATATACAGAATATATATAGTATATATATTCTATATACAGAATATAT ATAGTATATATATTCTGTATACAGAATATATAGTATATATATTCTATATA CAGAATATATATAGTATATATATTCTGTATACAGAATATATATACTATAT ATATTCTATATACAGAATATATATAGTATATATATTCTATATATAGAATA TATATATAGTATATATATTCTGTATATAGAATATATATAGTATATATATT CTGTATATAGAATATATATAGTATATATATTCTGTATATAGAATATATAT ACTATATTAATTC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	57	0.0175	512	c.409 others(531): Show c.409+15133_409+15134insGAATTAATATAGTATATATATTCTAT ATACAGAATATATATACTATATATATTCTATATACAGAATATATATACTA TATATATTCTATATACAGAATATATATACTATATATATATTCTATATATA GAATATATATACTATATATATTCTGTATATAGAATATATATAGTATATAT ATTCTGTATACAGAATATATATACTATATATATTCTGTATATAGAATATA TATACTATATATTCTGTATACAGAATATATATACTATATATATTCTGTAT ATAGAATATATATACTATATATATTCTGTATATAGAATATATATACTATA TATATTCTGTATATAGAATATATATAGTATATATATTCTGTATATAGAAT ATATATACTATATATATTCTGTATATAGAATATATATACTATATATATTC TGTATATAGAATATATATACTATATATATTCTGTATATAGAATATATATA CTATATATATTCTGTATATAGAATATATATACTATA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15529638	A A	ATATAGTA others(505): Show ATATAGTATATATATTCTATATACAGAATATATATAGTATATATATTCTA TATACAGAATATATATAGTATATATATTCTATATACAGAATATATATAGT ATATATATTCTATATACAGAATATATATAGTATATATATTCTATATACAG AATATATATAGTATATATATTCTGTATACAGAATATATATACTATATATA TTCTATATACAGAATATATATAGTATATATATTCTATATACAGAATATAT ATAGTATATATATTCTGTATACAGAATATATAGTATATATATTCTATATA CAGAATATATATAGTATATATATTCTGTATACAGAATATATATACTATAT ATATTCTATATACAGAATATATATAGTATATATATTCTATATATAGAATA TATATATAGTATATATATTCTGTATATAGAATATATATAGTATATATATT CTGTATATAGAATATATATAGTATATATATTCTGTATATAGAATATATAT ACTATATTAATTC	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	57	0.0175	512	c.409 others(531): Show c.409+15133_409+15134insGAATTAATATAGTATATATATTCTAT ATACAGAATATATATACTATATATATTCTATATACAGAATATATATACTA TATATATTCTATATACAGAATATATATACTATATATATATTCTATATATA GAATATATATACTATATATATTCTGTATATAGAATATATATAGTATATAT ATTCTGTATACAGAATATATATACTATATATATTCTGTATATAGAATATA TATACTATATATTCTGTATACAGAATATATATACTATATATATTCTGTAT ATAGAATATATATACTATATATATTCTGTATATAGAATATATATAGTATA TATATTCTGTATACAGAATATATATACTATATATATTCTGTATATAGAAT ATATATACTATATATATTCTGTATATAGAATATATATACTATATATATTC TGTATATAGAATATATATACTATATATATTCTGTATATAGAATATATATA CTATATATATTCTGTATATAGAATATATATACTATA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AHRR_chr5_316714_443285	344423	A A	ATGTGTGA others(505): Show ATGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTG TGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGAGGCTGTG GGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGG AGCTGTGTGTGTGTGGGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTG TGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTG TGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGG CTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGAGGCT GTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGG GGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTG TGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGT GTGTGGGTGTGTG	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0053 a0002c0002t0001g0053	1	57	0.0175	512	c.62+ others(525): Show c.62+550_62+551insAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGT GTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGA GGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCG CGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGC TGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGT GTGTGTGTGGGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTG TGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTG TGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCT GTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCT GTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGG GGGAGCTGTGTGTGTGTGGGTGTGTGTGTG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
ALG13_chrX_111676170_111765649	111721071	A A	AAGAAGGA others(505): Show AAGAAGGAAGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTTAA TTCTTCCTTCTTCATAGAAGGAAGAAACTTAATTCTTCCTTCTTCATAGA AGGAAGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTTAATTCT TCCTTCTTCATAGAAGGAAGAAACTTAATTCTTCCTTCTTCATAGAAGGA AGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTTAATTCTTCCT TCTTCATAGAAGGAAGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAA ACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTTAATTCTTCCTTCTT CATAGAAGGAAGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTT AATTCTTCCTTCTTCATAGAAGGAAGAAACTTAATTCTTCCTTCTTCATA GAAGGAAGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTTAATT CTTCCTTCTTCAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03579.hp1 NA19030.hp2 HG02486.hp1 HG03579.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0005 a0001c0002 a0002c0005	a0001c0002t0001 a0002c0005t0001 a0001c0002t0001 a0002c0005t0001	a0001c0002t0001g0032 a0001c0002t0001g0060 a0002c0005t0001g0025 a0001c0002t0001g0032 a0001c0002t0001g0060 a0002c0005t0001g0025	3	23	0.1304	512	c.132 others(527): Show c.1327-42_1327-41insAACTTAATTCTTCCTTCTTCATAGAAGGAA GAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTTAATTCTTCCTT CTTCATAGAAGGAAGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAAA CTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTTAATTCTTCCTTCTTC ATAGAAGGAAGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTTA ATTCTTCCTTCTTCATAGAAGGAAGAAACTTAATTCTTCCTTCTTCATAG AAGGAAGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTTAATTC TTCCTTCTTCATAGAAGGAAGAAACTTAATTCTTCCTTCTTCATAGAAGG AAGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTTAATTCTTCC TTCTTCATAGAAGGAAGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGA AACTTAATTCTTCCTTCTTCATAGAAGGAAGA	ALG13	ENSG00000101901.13	transcript	ENST00000394780.8	protein_coding	11/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
ALPK2_chr18_58476247_58634091	58550503	T T	TATACAAC others(505): Show TATACAACCCCATCCCCATCTCTATCACCTACAACCCCATCCCCATCTCC ATCACCTACAACCCCATCCCCATCTCCATCATATATGACTCTACCCCCAT CTATATCATATACAACCCCATCCCCATCTCTATCACCTACAACCCCATCC CCATCTCCATCACCTACAACCCCATCCCCATCTCCATCATATATGACTCT ACCCCCATCTATATCATATACAACCCCATCCCCATCTCTATCACCTACAA CCCCATCTCCATCTCCATCACCTACAACCCCATCCCCATCTCCATCATAT ATGACTCTATCCCCATCTGTGTCATATACAACCCATCCCCATCTATATCA CATACAACTCCATCCCCATCTCCATCACATAAAACCCCATCCCTGACTTC ATCATGAACAACCCCATCCCTGTCTCTATCACATATAACCTCATCCCCAT CTCCATCACCTACAACCCCATCCCCATCTCCATCATGTATGACTCTACAC CCATCTATATCAC	intron_variant intron_variant	MODIFIER	HG02148.hp2 NA19056.hp1 HG02148.hp2 NA19056.hp1	a0009 a0012 a0009 a0012	a0009c0059 a0012c0010 a0009c0059 a0012c0010	a0009c0059t0015 a0012c0010t0001 a0009c0059t0015 a0012c0010t0001	a0009c0059t0015g0028 a0012c0010t0001g0293 a0009c0059t0015g0028 a0012c0010t0001g0293	2	115	0.0174	512	c.196 others(533): Show c.1963-12280_1963-12279insGTGATATAGATGGGTGTAGAGTCA TACATGATGGAGATGGGGATGGGGTTGTAGGTGATGGAGATGGGGATGAG GTTATATGTGATAGAGACAGGGATGGGGTTGTTCATGATGAAGTCAGGGA TGGGGTTTTATGTGATGGAGATGGGGATGGAGTTGTATGTGATATAGATG GGGATGGGTTGTATATGACACAGATGGGGATAGAGTCATATATGATGGAG ATGGGGATGGGGTTGTAGGTGATGGAGATGGAGATGGGGTTGTAGGTGAT AGAGATGGGGATGGGGTTGTATATGATATAGATGGGGGTAGAGTCATATA TGATGGAGATGGGGATGGGGTTGTAGGTGATGGAGATGGGGATGGGGTTG TAGGTGATAGAGATGGGGATGGGGTTGTATATGATATAGATGGGGGTAGA GTCATATATGATGGAGATGGGGATGGGGTTGTAGGTGATGGAGATGGGGA TGGGGTTGTAGGTGATAGAGATGGGGATGGGGTTGTAT	ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding	4/12			chr18	TogoVar
ALPK2_chr18_58476247_58634091	58550503	T T	TATACAAC others(505): Show TATACAACCCCATCCCCATCTCTATCACCTACAATCCCATCCCCATCTCC ATCACCTACAACCCCATCCCCATCTCCATCATATATGACTCTACCCCCAT CTATATCATATACAACCCCATCCCCATCTCTATCACCTACAACCCCATCC CCATCTCCATCACCTACAACCCCATCCCCATCTCCATCATATATGACTCT ACCCCCATCTATATCATATACAACCCCATCCCCATCTCTATCACCTACAA CCCCATCTCCATCTCCATCACCTACAACCCCATCCCCATCTCCATCATAT ATGACTCTATCCCCATCTGTGTCATATACAACCCATCCCCATCTATATCA CATACAACTCCATCCCCATCTCCATCACATAAAACCCCATCCCTGACTTC ATCATGAACAACCCCATCCCTGTCTCTATCACATATAACCTCATCCCCAT CTCCATCACCTACAACCCCATCCCCATCTCCATCATGTATGACTCTACAC CCATCTATATCAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp2 HG00738.hp2 others(96): Show HG00140.hp1 HG00423.hp2 HG00738.hp2 HG01081.hp1 HG01106.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01192.hp2 HG01243.hp1 HG01884.hp2 HG01943.hp2 HG01975.hp2 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02145.hp1 HG02165.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02717.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02970.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03579.hp2 HG03654.hp1 HG03704.hp1 HG03710.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp2 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18948.hp2 NA18949.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18969.hp2 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18978.hp2 NA18983.hp2 NA18986.hp2 NA18990.hp1 NA18991.hp1 NA18994.hp1 NA18998.hp1 NA18999.hp2 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19030.hp2 NA19060.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19076.hp2 NA19080.hp2 NA19090.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(20): Show a0001 a0002 a0003 a0004 a0007 a0008 a0011 a0012 a0013 a0014 a0016 a0017 a0019 a0021 a0023 a0026 a0028 a0034 a0036 a0039 a0041 a0046 a0047	a0001c0002 a0001c0014 a0001c0023 others(38): Show a0001c0002 a0001c0014 a0001c0023 a0001c0077 a0001c0092 a0001c0093 a0002c0001 a0002c0006 a0003c0004 a0003c0021 a0003c0056 a0003c0067 a0003c0068 a0004c0003 a0004c0012 a0004c0071 a0007c0024 a0007c0034 a0008c0027 a0008c0035 a0008c0041 a0011c0008 a0012c0010 a0012c0069 a0013c0025 a0013c0036 a0014c0072 a0016c0030 a0016c0050 a0017c0026 a0019c0033 a0021c0031 a0023c0058 a0026c0037 a0028c0076 a0034c0074 a0036c0049 a0039c0094 a0041c0089 a0046c0060 a0047c0070	a0001c0002t0001 a0001c0002t0003 a0001c0014t0001 others(62): Show a0001c0002t0001 a0001c0002t0003 a0001c0014t0001 a0001c0014t0020 a0001c0023t0001 a0001c0023t0013 a0001c0077t0005 a0001c0092t0003 a0001c0093t0001 a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0006t0003 a0002c0006t0011 a0003c0004t0001 a0003c0004t0002 a0003c0004t0004 a0003c0021t0001 a0003c0021t0006 a0003c0056t0006 a0003c0067t0009 a0003c0068t0002 a0004c0003t0001 a0004c0003t0002 a0004c0003t0003 a0004c0003t0004 a0004c0003t0005 a0004c0003t0016 a0004c0012t0001 a0004c0012t0002 a0004c0012t0007 a0004c0071t0001 a0007c0024t0001 a0007c0024t0005 a0007c0024t0013 a0007c0034t0004 a0008c0027t0002 a0008c0035t0006 a0008c0035t0008 a0008c0041t0001 a0008c0041t0003 a0011c0008t0002 a0011c0008t0003 a0012c0010t0001 a0012c0010t0004 a0012c0069t0007 a0013c0025t0010 a0013c0025t0014 a0013c0036t0003 a0013c0036t0013 a0014c0072t0003 a0016c0030t0001 a0016c0050t0006 a0017c0026t0017 a0019c0033t0008 a0021c0031t0001 a0023c0058t0012 a0026c0037t0014 a0028c0076t0010 a0034c0074t0001 a0036c0049t0004 a0039c0094t0005 a0041c0089t0001 a0046c0060t0003 a0047c0070t0002	a0001c0002t0001g0246 a0001c0002t0003g0180 a0001c0002t0003g0181 others(96): Show a0001c0002t0001g0246 a0001c0002t0003g0180 a0001c0002t0003g0181 a0001c0014t0001g0249 a0001c0014t0020g0089 a0001c0023t0001g0137 a0001c0023t0013g0092 a0001c0077t0005g0271 a0001c0092t0003g0320 a0001c0093t0001g0140 a0002c0001t0001g0155 a0002c0001t0001g0169 a0002c0001t0001g0172 a0002c0001t0001g0205 a0002c0001t0001g0245 a0002c0001t0002g0055 a0002c0001t0003g0198 a0002c0006t0003g0213 a0002c0006t0011g0116 a0003c0004t0001g0208 a0003c0004t0002g0035 a0003c0004t0004g0165 a0003c0004t0004g0207 a0003c0004t0004g0209 a0003c0021t0001g0274 a0003c0021t0001g0275 a0003c0021t0006g0066 a0003c0056t0006g0087 a0003c0067t0009g0042 a0003c0068t0002g0076 a0004c0003t0001g0193 a0004c0003t0001g0194 a0004c0003t0001g0211 a0004c0003t0001g0218 a0004c0003t0001g0265 a0004c0003t0001g0266 a0004c0003t0001g0268 a0004c0003t0001g0276 a0004c0003t0001g0294 a0004c0003t0001g0295 a0004c0003t0001g0304 a0004c0003t0002g0059 a0004c0003t0002g0060 a0004c0003t0002g0065 a0004c0003t0002g0088 a0004c0003t0003g0230 a0004c0003t0003g0254 a0004c0003t0003g0262 a0004c0003t0003g0305 a0004c0003t0004g0203 a0004c0003t0004g0263 a0004c0003t0004g0270 a0004c0003t0004g0313 a0004c0003t0005g0183 a0004c0003t0016g0261 a0004c0003t0016g0286 a0004c0012t0001g0195 a0004c0012t0001g0292 a0004c0012t0002g0001 a0004c0012t0007g0038 a0004c0012t0007g0040 a0004c0071t0001g0291 a0007c0024t0001g0272 a0007c0024t0005g0279 a0007c0024t0013g0090 a0007c0034t0004g0247 a0008c0027t0002g0074 a0008c0035t0006g0058 a0008c0035t0008g0149 a0008c0041t0001g0136 a0008c0041t0003g0135 a0011c0008t0002g0054 a0011c0008t0003g0314 a0012c0010t0001g0186 a0012c0010t0001g0312 a0012c0010t0004g0298 a0012c0069t0007g0036 a0013c0025t0010g0110 a0013c0025t0014g0109 a0013c0025t0014g0111 a0013c0036t0003g0319 a0013c0036t0013g0107 a0014c0072t0003g0161 a0016c0030t0001g0242 a0016c0050t0006g0080 a0017c0026t0017g0064 a0019c0033t0008g0160 a0019c0033t0008g0287 a0021c0031t0001g0278 a0023c0058t0012g0093 a0026c0037t0014g0106 a0026c0037t0014g0108 a0028c0076t0010g0113 a0034c0074t0001g0162 a0036c0049t0004g0248 a0039c0094t0005g0315 a0041c0089t0001g0156 a0046c0060t0003g0206 a0047c0070t0002g0039	99	212	0.4670	512	c.196 others(533): Show c.1963-12280_1963-12279insGTGATATAGATGGGTGTAGAGTCA TACATGATGGAGATGGGGATGGGGTTGTAGGTGATGGAGATGGGGATGAG GTTATATGTGATAGAGACAGGGATGGGGTTGTTCATGATGAAGTCAGGGA TGGGGTTTTATGTGATGGAGATGGGGATGGAGTTGTATGTGATATAGATG GGGATGGGTTGTATATGACACAGATGGGGATAGAGTCATATATGATGGAG ATGGGGATGGGGTTGTAGGTGATGGAGATGGAGATGGGGTTGTAGGTGAT AGAGATGGGGATGGGGTTGTATATGATATAGATGGGGGTAGAGTCATATA TGATGGAGATGGGGATGGGGTTGTAGGTGATGGAGATGGGGATGGGGTTG TAGGTGATAGAGATGGGGATGGGGTTGTATATGATATAGATGGGGGTAGA GTCATATATGATGGAGATGGGGATGGGGTTGTAGGTGATGGAGATGGGGA TGGGATTGTAGGTGATAGAGATGGGGATGGGGTTGTAT	ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding	4/12			chr18	TogoVar
AP3D1_chr19_2095988_2156566	2128442	G G	GCACTGCA others(505): Show GCACTGCACCCCGTGGAGCCGGCCCACCCCACAGCTCCGACACTGCACCC CGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGG CCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGC CGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACAC TGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGT GGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCC GCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGC TCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGC ACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGA GCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCC CCCGCCGCTCCGA	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	298	0.0034	512	c.806 others(527): Show c.806+647_806+648insTCGGAGCGGCGGGGGCGGGCCGGCTCCACG GGGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGT CGGAGCGGCGGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTG GGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCCGG CTCCACGGGGTGCAGTGTCGGAGCGGCGGGGGCGGGCCGGCTCCACGGGG TGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGG AGCGGCGGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGG CGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCGGCGGGGGCGGGCCGGCT CCACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGC AGTGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGC TGTGGGGTGGGCCGGCTCCACGGGGTGCAGTG	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
APOOL_chrX_84998877_85098315	85088050	T T	TTATACAT others(505): Show TTATACATATATGTATAAATACGTATTAATACATATATGTATAAATACGT ATTAATACATATATGTATAAATACATACATATTTATACATATATGTATAC ATACATATTTATACATATATATGTATAAATACATACATATTTATACATAT ATATGTATAAATACGTACATATTTATACATATATATGTATAAATACGTAC ATATTTATACATATATATGTATAAATACGTACATATTTATACATATATAT GTATAAATACGTACATATTTATACATATATATGTATAAATACGTACATAT TTATACATATATATGTATAAATACGTACATATTTATACATATATATGTAT AAATACGTACATATTTATACATATATATGTATAAATACGTACATATTTAT ACATATATGTATAAATACGTACATATTTATACATATATGTATAAATACAT ATACATATTTATACATATATGTATAAATACATATACATATTTATACATAT ATGTATAAATACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01069.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0003 a0001c0001t0036g0063 a0001c0001t0036g0003 a0001c0001t0036g0063	2	248	0.0081	512	c.39 others(521): Show c.393_*394insGTATTAATACATATATGTATAAATACGTATTAATAC ATATATGTATAAATACATACATATTTATACATATATGTATACATACATAT TTATACATATATATGTATAAATACATACATATTTATACATATATATGTAT AAATACGTACATATTTATACATATATATGTATAAATACGTACATATTTAT ACATATATATGTATAAATACGTACATATTTATACATATATATGTATAAAT ACGTACATATTTATACATATATATGTATAAATACGTACATATTTATACAT ATATATGTATAAATACGTACATATTTATACATATATATGTATAAATACGT ACATATTTATACATATATATGTATAAATACGTACATATTTATACATATAT GTATAAATACGTACATATTTATACATATATGTATAAATACATATACATAT TTATACATATATGTATAAATACATATACATATTTATACATATATGTATAA ATACATATACATATATGTATAAATAC	APOOL	ENSG00000155008.16	transcript	ENST00000373173.7	protein_coding	9/9	394	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARFRP1_chr20_63693647_63712976	63693729	A A	ACCACCAC others(505): Show ACCACCACCTCCACCTCCACCTCCACCTCCACCACCTCCACCTCCACCAC CACCACCTCCACCACCACCTCCACCACCACCACCTCCACCTCCACCACCT CCACCACCACCACCTCCACCACCACCACCTCCACCTCCACCTCCACCTCC ACCACCACCACCACCACCTCCACCACCACCACCTCCACCTCCACCACCAC CACCTCCACCTCCACCACCACCACCTCCACCTCCACCACCACCACCTCCA CCACCTCCACCTCCACCACCACCACCTCCACCACCTCCACCACCACCACC ACCACCACCACCACCTCCACCACCACCACCACCACCACCTCCACCACCTC CACCTCCACCACCACCACCACCACCACCTCCACCACCACCTCCAACTCCA CCACCTCCACCTCCACCTCCACCACCTCCACCACCACCTCCACCACCACC TCCTCCACCTCACCACCTCCACCACCACCTCCACCACCACCTCCACCACC ACCTCCTCCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	167	0.0060	512	c.67 others(523): Show c.6713_*6714insAGGTGGAGGAGGTGGTGGTGGAGGTGGTGGTGGA GGTGGTGGTGGAGGTGGTGAGGTGGAGGAGGTGGTGGTGGAGGTGGTGGT GGAGGTGGTGGAGGTGGAGGTGGAGGTGGTGGAGTTGGAGGTGGTGGTGG AGGTGGTGGTGGTGGTGGTGGTGGAGGTGGAGGTGGTGGAGGTGGTGGTG GTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGGTGGTGGAGGTGGT GGAGGTGGTGGTGGTGGAGGTGGAGGTGGTGGAGGTGGTGGTGGTGGAGG TGGAGGTGGTGGTGGTGGAGGTGGAGGTGGTGGTGGTGGAGGTGGAGGTG GTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGAGGTGGAGGTGGAGGTGGA GGTGGTGGTGGTGGAGGTGGTGGTGGTGGAGGTGGTGGAGGTGGAGGTGG TGGTGGTGGAGGTGGTGGTGGAGGTGGTGGTGGTGGAGGTGGAGGTGGTG GAGGTGGAGGTGGAGGTGGAGGTGGTGG	ARFRP1	ENSG00000101246.20	transcript	ENST00000622789.5	protein_coding		4917		chr20	TogoVar
ARHGEF10_chr8_1818926_1963641	1840143	T T	TGGTGTGG others(505): Show TGGTGTGGAAGCTGTCTGGTGTGGAAGCTGTCTGGTGTGGGGACAGTCTG GTGTGGGGACTGTCTGGTGTGGGGACTGTCCGGTGTGGAAGCTGTCTGGT GTGGAAGCTGTCTGGTGTGGAAGCTGTCTGGTGTGGAAGCTGTCTGGTGT GGGGACTGTCTGGTGTGGAAGCTGTCTGGTGTGGGGACTGTCCGGCATGG GCACTGTCCGGTGTGGGGACTGTCCGGTGTGGAAGCTGTCTGGTGTGGAA GCTGTCTGGTGTGGAAGCTGTCTGGTGTGGGGACAGTCTGGTGTGGGGAC TGTCTGGTGTGGGGACTGTCCGGTGTGGAAGCTGTCTGGTGTGGAAGCTG TCTGGTGTGGAAGCTGTCTGGTGTGGGGACTGTCTGGTGTGGGGACTGTC TGCTGTGGGGACTATCTGGTGTGGAAGCTGTCTGGTGTGGGGACAGTCTG GTGTGGGGACTGTCTGGTGTGGAAGTTGTCTGGTGTGGGGACTGTCTGGT GTGGGGACTGTCC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0012 a0012	a0012c0130 a0012c0130	a0012c0130t0061 a0012c0130t0061	a0012c0130t0061g0342 a0012c0130t0061g0342	1	346	0.0029	512	c.-47 others(529): Show c.-47-3203_-47-3202insAAGCTGTCTGGTGTGGAAGCTGTCTGGT GTGGGGACAGTCTGGTGTGGGGACTGTCTGGTGTGGGGACTGTCCGGTGT GGAAGCTGTCTGGTGTGGAAGCTGTCTGGTGTGGAAGCTGTCTGGTGTGG AAGCTGTCTGGTGTGGGGACTGTCTGGTGTGGAAGCTGTCTGGTGTGGGG ACTGTCCGGCATGGGCACTGTCCGGTGTGGGGACTGTCCGGTGTGGAAGC TGTCTGGTGTGGAAGCTGTCTGGTGTGGAAGCTGTCTGGTGTGGGGACAG TCTGGTGTGGGGACTGTCTGGTGTGGGGACTGTCCGGTGTGGAAGCTGTC TGGTGTGGAAGCTGTCTGGTGTGGAAGCTGTCTGGTGTGGGGACTGTCTG GTGTGGGGACTGTCTGCTGTGGGGACTATCTGGTGTGGAAGCTGTCTGGT GTGGGGACAGTCTGGTGTGGGGACTGTCTGGTGTGGAAGTTGTCTGGTGT GGGGACTGTCTGGTGTGGGGACTGTCCGGTGTGG	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1840361	G G	GCTGTCTG others(505): Show GCTGTCTGGTGTGGAAGCTGTCTGGTTTGGGGACTGTCTGGTGTGGAAGC TGTCTGGTGTGGGGACTGTCCGGTGTGGAAGCTGTCTGTTGTGGAAGCTG CGTGGTGTGGGGAATGTCTTGTGTGGAAGCTGTCTGGTGTGGGGACTGTC TGGTGTGGAAGCTGTCTGGTGTGGGGACTGTCTGGTGTGGGGACCGTCTG GTGTGGAAGCTGTCTGGTGTGGAAGCTGTCTGGTGTGGGGACTGTCTGGT GTGGAAGCTGTCTGGTGTGGGGACTGTCCGGTGTGGAAGCTGTCTGGTGT GGAAGCTGTCTGGTGTGGGGTCTGTCTGGTGTGGAAGATGTCTGGTGTGG GGACTGTCTGGTGTGGGGACTGTCCGGTGTGGGGACTGTCTGGTGTGGGG ACTGTCTGCTGTGGAAGCTGTCTGCTGTGGAAGCTGTCTGGTGTGGGGAC TGTCTGGTGTGGAAGCTCTCTGGTGTGGGGACTGTCTTGTGTGGGGACTG TCCGGTGTGGGGA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0012 a0012	a0012c0130 a0012c0130	a0012c0130t0061 a0012c0130t0061	a0012c0130t0061g0342 a0012c0130t0061g0342	1	354	0.0028	512	c.-47 others(529): Show c.-47-2987_-47-2986insTGGTGTGGAAGCTGTCTGGTTTGGGGAC TGTCTGGTGTGGAAGCTGTCTGGTGTGGGGACTGTCCGGTGTGGAAGCTG TCTGTTGTGGAAGCTGCGTGGTGTGGGGAATGTCTTGTGTGGAAGCTGTC TGGTGTGGGGACTGTCTGGTGTGGAAGCTGTCTGGTGTGGGGACTGTCTG GTGTGGGGACCGTCTGGTGTGGAAGCTGTCTGGTGTGGAAGCTGTCTGGT GTGGGGACTGTCTGGTGTGGAAGCTGTCTGGTGTGGGGACTGTCCGGTGT GGAAGCTGTCTGGTGTGGAAGCTGTCTGGTGTGGGGTCTGTCTGGTGTGG AAGATGTCTGGTGTGGGGACTGTCTGGTGTGGGGACTGTCCGGTGTGGGG ACTGTCTGGTGTGGGGACTGTCTGCTGTGGAAGCTGTCTGCTGTGGAAGC TGTCTGGTGTGGGGACTGTCTGGTGTGGAAGCTCTCTGGTGTGGGGACTG TCTTGTGTGGGGACTGTCCGGTGTGGGGACTGTC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARID1B_chr6_156772378_157215779	157147298	A A	ACCCTGCC others(505): Show ACCCTGCCCGCCTTCCCTCACCCCCGCCTCCGGCCCTGCCCTCCGGCCCT CACCCCAGCCTCCGACCCTGCCCTCCGTCCCCCACCCCCGCCTCCGGCCC TGCCCTCCGTCCCCCACCCCCGCCTCCGGCCCTGTCCTCCGTCCCCCACC CCAGCCTCCGGCCCTGCCCTCCGTCCCCCACCCCCGCCTCCGACCCTGCC CTCCGTCCCCCACCCCCGCCTCCGGCTCTGCCCTCCGTCCCCCACCCCCG CCTCCGACCCTGCCCTCCGTCCCCCACCCCCGCCTCCGGCCCTGCCCTCC ATCCCCCACCCCCGCCTCCGGCCCTGCCCTCCGTCCCTCACCTCCACCTC CGACCCTGACCTCCGTCCCTCACCCCCGCCTCCGGCCCTGCCCTCCGTCC CTCACCTCCGCCTCCGGCCCTGCCCTCCGTCCCCCACCCCCGTCTCCGGC CCTGCCCGCCAGCCCTCACCTCCACCTCCGGCCCTGCCCTCCATCCCCCA CCCCCGCCTCCGG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03195.hp1 NA18522.hp1 HG02559.hp1 HG03195.hp1 NA18522.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0009 a0001c0001 a0004c0009	a0001c0001t0001 a0004c0009t0001 a0001c0001t0001 a0004c0009t0001	a0001c0001t0001g0059 a0001c0001t0001g0118 a0004c0009t0001g0088 a0001c0001t0001g0059 a0001c0001t0001g0118 a0004c0009t0001g0088	3	132	0.0227	512	c.276 others(531): Show c.2762-1318_2762-1317insGCCTTCCCTCACCCCCGCCTCCGGCC CTGCCCTCCGGCCCTCACCCCAGCCTCCGACCCTGCCCTCCGTCCCCCAC CCCCGCCTCCGGCCCTGCCCTCCGTCCCCCACCCCCGCCTCCGGCCCTGT CCTCCGTCCCCCACCCCAGCCTCCGGCCCTGCCCTCCGTCCCCCACCCCC GCCTCCGACCCTGCCCTCCGTCCCCCACCCCCGCCTCCGGCTCTGCCCTC CGTCCCCCACCCCCGCCTCCGACCCTGCCCTCCGTCCCCCACCCCCGCCT CCGGCCCTGCCCTCCATCCCCCACCCCCGCCTCCGGCCCTGCCCTCCGTC CCTCACCTCCACCTCCGACCCTGACCTCCGTCCCTCACCCCCGCCTCCGG CCCTGCCCTCCGTCCCTCACCTCCGCCTCCGGCCCTGCCCTCCGTCCCCC ACCCCCGTCTCCGGCCCTGCCCGCCAGCCCTCACCTCCACCTCCGGCCCT GCCCTCCATCCCCCACCCCCGCCTCCGGCCCTGCCC	ARID1B	ENSG00000049618.25	transcript	ENST00000636930.2	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
ATP10A_chr15_25673712_25868327	25757973	A A	ACTCATTC others(505): Show ACTCATTCCGACCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCC TAACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCT CCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCA CCTGCTCCACCCTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGAT CACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCAT TCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTC ATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCC TAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCT CCACCCTAACTCATTCCGACCACCTGCTCCACCCTCATTCCGACCACCTG CTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGAT CACCTGCTCCACC	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0129 a0002c0002t0001g0129	1	284	0.0035	512	c.655 others(531): Show c.655-21833_655-21832insGGTGGAGCAGGTGATCGGAATGAGTT AGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAA TGAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGG AATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGT GATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAGCAG GTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTG GAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTT AGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAGCAGGTGGTCGGAATGAG TTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGG AATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGT GGTCGGAATGAGGGTGGAGCAGGTGGTCGGAATGAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
B4GALNT4_chr11_364499_387117	375125	A A	AAGGGAGG others(505): Show AAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGG AGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGA GGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAG GAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGGAG GAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGA AGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGA GGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAG GAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGA AGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGA GGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAG GGAGGAGGAAGGG	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0020 a0020	a0020c0032 a0020c0032	a0020c0032t0001 a0020c0032t0001	a0020c0032t0001g0147 a0020c0032t0001g0147	1	150	0.0067	512	c.784 others(527): Show c.784-325_784-324insGAGGAGGAAGGGAGGGAGGAGGAAGGGAGG GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGG AGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGA GGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAG GGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGG GAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGA GGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAG GGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGG GAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGA GGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAG GAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BFSP2_chr3_133395056_133480208	133425964	A A	AGGGGAGG others(505): Show AGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGG AGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGA GGGGAGGGGAGGGGAGGGGATGGGAGGGGGAGGGGAGGGGATGGGAGGGG GAGGGGAGGGGATGGGAGGGGGAGGGGAGGGGATGGGAGGGGGAGGGGAG GGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGG GGGAGGGGAAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAG GGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGAG AGGGAGGGGATGGGGAGGGGAGGGGGAGGGGGAGGGGGGGAGGGGGGAGG GGGAGGGGAGGGGAGAGGGAGGGGATGGGGAGGGGAGGGGGAGGGGGGGA GGGGAAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGGAGGGG AGGGGGAGGGGAT	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	254	0.0039	512	c.490 others(531): Show c.490-21348_490-21347insGGGGGAGGGGGAGGGGAGGGGGAGGG GAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGG GAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGATGGGAGGGGGAG GGGAGGGGATGGGAGGGGGAGGGGAGGGGATGGGAGGGGGAGGGGAGGGG ATGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGA GGGGAGGGGGAGGGGAGGGGGAGGGGAAGGGGAGGGGGAGGGGAGGGGGA GGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGG AGGGGGAGGGGAGGGGAGAGGGAGGGGATGGGGAGGGGAGGGGGAGGGGG AGGGGGGGAGGGGGGAGGGGGAGGGGAGGGGAGAGGGAGGGGATGGGGAG GGGAGGGGGAGGGGGGGAGGGGAAGGGGGAGGGGAGGGGAGGGGGAGGGG AGGGGGAGGGGGGAGGGGAGGGGGAGGGGATGGGGA	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
C1orf159_chr1_1076823_1121089	1080916	G G	GGTCCCTG others(505): Show GGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCC TCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTC CCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCG CCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTG TCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCC CACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTC CTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACC TCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTC CCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGG TCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTC CGCCCCCATCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp1 NA18955.hp2 NA18940.hp1 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0261 a0001c0001t0001g0144 a0001c0001t0001g0261	2	208	0.0096	512	c.19 others(523): Show c.1976_*1977insAGAGATGGGGGCGGAGGGAAGGAGACAGGGACCG AGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAA GGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGT GGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAG ACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGG GCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAG GGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGG AGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGAC CGAGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGG AAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAG GTGGGGGCGGAGGGAAGGAGACAGGGAC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		906		chr1	TogoVar
C20orf96_chr20_265863_295750	279077	A A	AGGGCGGG others(505): Show AGGGCGGGACGGAGGGAGGGCGGGAGGGCGGGAGGGCGGGACGGAGGGAG GGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGAGGGAGGGAGGG AGGGAGGGACGGAGGGAGGAAGGGCGGGACAGAGGGAGGGAGGGAGGGAG GAAGGGCGGGACAGAGGGAGGGAGGGAGGGAGGGAGGGCGGGACAGAGGG AGGGAGGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGAGGGAG GGACGGAGGGAGGAAGGGCGGGACGGAGGGAGGGAGGGAGGGAGGGAGGG AGGGACGGAGGGAGGAAGGGCGGGACGGAGGGAGGGAGGGAGGGAGGGAG GGCGGGACGGAGGGAGGGAGGGAGGGCGGGACGGAGGGCGGGAGGGCGGG ACGGAGGGAGGGAGGGAGGGCGGGACGGAGGGAGGGCGGGAGGGCGGGAG GGCGGGACGGAGGGAGGGAGGGAGGGAGGGCGGGACGGAGGGAGGGCGGG AGGGCGGGAGGGC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	398	0.0025	512	c.465 others(525): Show c.465+94_465+95insGCCCTCCCGCCCTCCCGCCCTCCCTCCGTCCC GCCCTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCGCCCTCCCGCCCTC CCTCCGTCCCGCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCGCCCTCCG TCCCGCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCCTCCCTC CCTCCGTCCCGCCCTTCCTCCCTCCGTCCCTCCCTCCCTCCCTCCCTCCC TCCCTCCGTCCCGCCCTTCCTCCCTCCGTCCCTCCCTCCCTCCCTCCCTC CCTCCGTCCCGCCCTCCCTCCCTCCCTCCCTCCCTCTGTCCCGCCCTCCC TCCCTCCCTCCCTCCCTCTGTCCCGCCCTTCCTCCCTCCCTCCCTCCCTC TGTCCCGCCCTTCCTCCCTCCGTCCCTCCCTCCCTCCCTCCCTCCCGCCC TCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCCTCCCTCCGTCCCGCCCTC CCGCCCTCCCGCCCTCCCTCCGTCCCGCCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
CACNG7_chr19_53904278_53948950	53922213	T T	TCATTGGT others(505): Show TCATTGGTGGACTTGCCCCAGGTCTGGTCATTGGTGGAGTTGCCTCAGGT CTGGTCATTGGCGGACTTGCCCCAGGTCTGGTCATTGGTGGACTTGCCCC AGGCTGGTCATTGGTGGAGTCGTCCCCAGGTCTGGTCATTGGTGGAGTTG CCTCAGGTCTGGTCATTGGTGGAGTTGCCCCAGGCTGGTCATTGGTGGAG TTGCCCCAGGTCTGGTATTGCTGGAGTTGTCCCCAGGCCTGGTCATTGGT GGAGTTGCCCCAGGTCTGGTATTGGTGGAGTTGCCCCAGGTCTGGTCATT GGTGGAGTTGCCCCAGGCTGGTCATTGGTGGAGTTGCCCCAGGTCTGGTC ATTGGTGGAGTCGTCCCCAGGTCTGGTCATTGGTGGACTTGCCCCAGGTC TGGTCATTGGTGGAGCTGTCCCAGGCTGGTCATTGGTGGAGCTGTCCCCA GGCCTGGTATTGGTGGAGTTGTCCCCAGGCCTGGTCATTGGTGGAGTTGC CCCAGGCCTGGTC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0329 a0001c0001t0001g0329	1	345	0.0029	512	c.424 others(529): Show c.424+6708_424+6709insCATTGGTGGACTTGCCCCAGGTCTGGTC ATTGGTGGAGTTGCCTCAGGTCTGGTCATTGGCGGACTTGCCCCAGGTCT GGTCATTGGTGGACTTGCCCCAGGCTGGTCATTGGTGGAGTCGTCCCCAG GTCTGGTCATTGGTGGAGTTGCCTCAGGTCTGGTCATTGGTGGAGTTGCC CCAGGCTGGTCATTGGTGGAGTTGCCCCAGGTCTGGTATTGCTGGAGTTG TCCCCAGGCCTGGTCATTGGTGGAGTTGCCCCAGGTCTGGTATTGGTGGA GTTGCCCCAGGTCTGGTCATTGGTGGAGTTGCCCCAGGCTGGTCATTGGT GGAGTTGCCCCAGGTCTGGTCATTGGTGGAGTCGTCCCCAGGTCTGGTCA TTGGTGGACTTGCCCCAGGTCTGGTCATTGGTGGAGCTGTCCCAGGCTGG TCATTGGTGGAGCTGTCCCCAGGCCTGGTATTGGTGGAGTTGTCCCCAGG CCTGGTCATTGGTGGAGTTGCCCCAGGCCTGGTC	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5			chr19	TogoVar
CAMKK2_chr12_121232692_121301709	121255235	T T	TATATATA others(505): Show TATATATATAATTATATATATATATAATTATATATATAATTTTATATATA TATAATTATATATATAATTTTATATATATATAATTATATATATAATTATA TATATATATAATTATATATATAATTATATATATATAAAATTATATATAAA ATTATATATATATAAAATTATATATAAAATTATATATATAATTATATATA TATTATATATATAATTTTATATATATATTATATATATAATTATATATATA TAATTATATATATAATTTTATATATATAATTATATATATAATTATATATA TAATTATATATATATAATTATATATATAATTTTATATATAATTTTATATA TAATTTTATATATATAATTATATATATAATTTTATATATATATAATTATA TATATAATTTTATATATAATTATATATATATAATTATATATATATTTTTA TATATATAATTATATATATAATTATATATATAATTTTATATATATATATA ATTATATATATAA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0012 a0001c0001t0003g0012	1	274	0.0036	512	c.907 others(527): Show c.907+314_907+315insTTATATATATAATTATATATATATATAAAA TTATATATATAATTATATATATAATTATATATATAAAAATATATATATAA TTATATATATATAATTATATATAAAATTATATATATAATTATATATATAT AAAATTATATATATAATTATATATATAAAATTATATATAAAATTATATAT AAAATTATATATATAATTATATATATATAATTATATATATAATTATATAT ATAATTATATATATAAAATTATATATATAATTATATATATATAATTATAT ATATAATATATATATAAAATTATATATATAATATATATATAATTATATAT ATAATTTTATATATAATTTTATATATATATAATTTTATATATAATTTTAT ATATATATAATTATATATATAATTATATATATATATAATTATATATATAA TTATATATATATAAAATTATATATATAATTATATATATATAAAATTATAT ATATAATTATATATATATATAATTATATATAT	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CAPN11_chr6_44153820_44189401	44182049	A A	ACACACAC others(505): Show ACACACACACATACAGACACAACCACACCACACACACACACACACATACA CACTCACATACAGACACAACCACACCACACTCACACACACACACTCACAT ACAGACACAACCACACCACACTCACACACACACACACACTCACATACAGA CACAACCACACCACACTCACACACACACACACACTCACATACAGACACAA CCACACCACACTCACACACACACTCACATACAGACACAACCACACCACAC TCACACACACACACACTCACATACAGACACAACCACACCACACTCACACA CACACATACACACTCACATACAGACACAACCACACCACACACACACATAC ACACTCACATACAGACACAACCACACCACACACACACACACACTCACATA CAGACACAACCACACCACACTCACACACACACACTCACATACAGACACAA CCACACCACACTCACACACACACACTCACATACAGACACAACCACACCAC ACACACACACACT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02976.hp1 HG03139.hp1 HG02055.hp1 HG02976.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0012 a0001c0001t0002g0002 a0001c0001t0002g0012	3	318	0.0094	512	c.193 others(529): Show c.1938+733_1938+734insCACACATACAGACACAACCACACCACAC ACACACACACACATACACACTCACATACAGACACAACCACACCACACTCA CACACACACACTCACATACAGACACAACCACACCACACTCACACACACAC ACACACTCACATACAGACACAACCACACCACACTCACACACACACACACA CTCACATACAGACACAACCACACCACACTCACACACACACTCACATACAG ACACAACCACACCACACTCACACACACACACACTCACATACAGACACAAC CACACCACACTCACACACACACATACACACTCACATACAGACACAACCAC ACCACACACACACATACACACTCACATACAGACACAACCACACCACACAC ACACACACACTCACATACAGACACAACCACACCACACTCACACACACACA CTCACATACAGACACAACCACACCACACTCACACACACACACTCACATAC AGACACAACCACACCACACACACACACACTCACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN11_chr6_44153820_44189401	44182049	A A	ACACACAC others(505): Show ACACACACATACAGACACAACCACACCACACACACACACACACATACACA CTCACATACAGACACAACCACACCACACTCACACACACACACTCACATAC AGACACAACCACACCACACTCACACACACACACACACACTCACATACAGA CACAACCACACCACACTCACACACACACACACTCACATACAGACACAACC ACACCACACTCACACACACACACTCACATACAGACACAACCACACCACAC TCACACACACACACACTCACATACAGACACAACCACACCACACTCACACA CACACATACACACTCACATACAGACACAACCACACCACACACACACATAC ACACTCACATACAGACACAACCACACCACACACACACACACACTCACATA CAGACACAACCACACCACACTCACACACACACACTCACATACAGACACAA CCACACCACACTCACACACACACACTCACATACAGACACAACCACACCAC ACACACACACACT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	316	0.0032	512	c.193 others(529): Show c.1938+733_1938+734insCACATACAGACACAACCACACCACACAC ACACACACACATACACACTCACATACAGACACAACCACACCACACTCACA CACACACACTCACATACAGACACAACCACACCACACTCACACACACACAC ACACACTCACATACAGACACAACCACACCACACTCACACACACACACACT CACATACAGACACAACCACACCACACTCACACACACACACTCACATACAG ACACAACCACACCACACTCACACACACACACACTCACATACAGACACAAC CACACCACACTCACACACACACATACACACTCACATACAGACACAACCAC ACCACACACACACATACACACTCACATACAGACACAACCACACCACACAC ACACACACACTCACATACAGACACAACCACACCACACTCACACACACACA CTCACATACAGACACAACCACACCACACTCACACACACACACTCACATAC AGACACAACCACACCACACACACACACACTCACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARD11_chr7_2901142_3048867	2909378	T T	TGCCCCTC others(505): Show TGCCCCTCACCCCTCCGCCCCCCACCCCTCCGCCCCCACCCTCCGCCTCT CATCCCTCCGCCCCTCGCCCCTCCGCCCCCACCCCTCCGCCCCCCACCCC TCGGCCCCCACCCTCCGCCTCTCATCCCTCCGCCCCTCGCCCCTCCGCCC CTCGCCCCTCCGCCCCCACCCCTCCGCCCCCCACCCCTCCGCCCCCACCC TCCGCCTCTCATCCCTCCGCCCCTCGCCCCTCCGCCCCCACCCCTCCGCC CCTCACCCCTGCGCCCCTCACCCTCCGCCTCTCACCCCTCCGCCCCCCAC CCCTCCGCCCCCCACCCCTCCGCCCCTCACCCTCCGCCTCTCATCCCTCT GCCCCTCACCCCTCCGCCCCTCACCCCTGCGCCCCTCACCCCTCCGCCCC CCACCCCTCCGCCCCCCACCCCTCCGCCCCTCACCCTCCGCCTCTCATCC CTCCGCCCCTCACCCCTCCGCCCCTCACCCCTCCACCCCTCACCCTCTGC CTCTCACCCCTGC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0044 a0001c0044	a0001c0044t0003 a0001c0044t0003	a0001c0044t0003g0267 a0001c0044t0003g0267	1	241	0.0041	512	c.326 others(529): Show c.3260+671_3260+672insGCAGGGGTGAGAGGCAGAGGGTGAGGGG TGGAGGGGTGAGGGGCGGAGGGGTGAGGGGCGGAGGGATGAGAGGCGGAG GGTGAGGGGCGGAGGGGTGGGGGGCGGAGGGGTGGGGGGCGGAGGGGTGA GGGGCGCAGGGGTGAGGGGCGGAGGGGTGAGGGGCAGAGGGATGAGAGGC GGAGGGTGAGGGGCGGAGGGGTGGGGGGCGGAGGGGTGGGGGGCGGAGGG GTGAGAGGCGGAGGGTGAGGGGCGCAGGGGTGAGGGGCGGAGGGGTGGGG GCGGAGGGGCGAGGGGCGGAGGGATGAGAGGCGGAGGGTGGGGGCGGAGG GGTGGGGGGCGGAGGGGTGGGGGCGGAGGGGCGAGGGGCGGAGGGGCGAG GGGCGGAGGGATGAGAGGCGGAGGGTGGGGGCCGAGGGGTGGGGGGCGGA GGGGTGGGGGCGGAGGGGCGAGGGGCGGAGGGATGAGAGGCGGAGGGTGG GGGCGGAGGGGTGGGGGGCGGAGGGGTGAGGGGC	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	24/24			chr7	TogoVar
CDH15_chr16_89166748_89200492	89192567	C C	CTCATTAC others(505): Show CTCATTACCAGCCACGCCGCTTCCTCCCAGCTCCTCCTCCTCCCTAACCC CGCCCCGTCATTACCAGCCACGCCGCTTCCTCCCCAGCTCCTCCTCCTCC CTAACCCCGCCCCTCAGTACCAGCCACGCCGCTTCCTCCCCAGCTCCTCC TCCTCCGTAACCCCGCCCCCTCAGTACCAGCCACGCCCCTTCCTCCCCAG TTCCACCTCCTCCGCAACACCACCCACTCATTACCAGCCACGCCGCTTCC ACCCAACCCGCCCCCTGCTCGCCAACCCCGCCCCCTCATTACTAGCCACG CCCCTTCCTCCCCAGCTCCGCCTCCTCCCTAACCCCGCCCCCTCATTACC AGCCACGCCGCTTCCTCCCCAGCTCCGCCTCCTCCCTAACCCCGCCCCGT CATTACCAGCCACGCCGCTTCCTCCCCAGCTCCGCCTCCTCCCTAACCCC GCCCCCTCATTACCAGCCACGCCGCTTCCTCCCCAGCTCCTCCTCCTCCC TAACCCCGCCCCG	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0290 a0004c0005t0001g0290	1	382	0.0026	512	c.185 others(529): Show c.1855+150_1855+151insAGCTCCTCCTCCTCCCTAACCCCGCCCC GTCATTACCAGCCACGCCGCTTCCTCCCCAGCTCCTCCTCCTCCCTAACC CCGCCCCTCAGTACCAGCCACGCCGCTTCCTCCCCAGCTCCTCCTCCTCC GTAACCCCGCCCCCTCAGTACCAGCCACGCCCCTTCCTCCCCAGTTCCAC CTCCTCCGCAACACCACCCACTCATTACCAGCCACGCCGCTTCCACCCAA CCCGCCCCCTGCTCGCCAACCCCGCCCCCTCATTACTAGCCACGCCCCTT CCTCCCCAGCTCCGCCTCCTCCCTAACCCCGCCCCCTCATTACCAGCCAC GCCGCTTCCTCCCCAGCTCCGCCTCCTCCCTAACCCCGCCCCGTCATTAC CAGCCACGCCGCTTCCTCCCCAGCTCCGCCTCCTCCCTAACCCCGCCCCC TCATTACCAGCCACGCCGCTTCCTCCCCAGCTCCTCCTCCTCCCTAACCC CGCCCCGTCATTACCAGCCACGCCGCTTCCTCCC	CDH15	ENSG00000129910.8	transcript	ENST00000289746.3	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(505): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTAT TAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTA AGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAG AGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAG GTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGT GATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp1 NA18977.hp2 NA19005.hp1 HG03017.hp1 NA18977.hp2 NA19005.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0060 a0002c0002t0087 a0002c0002t0009 a0002c0002t0060 a0002c0002t0087	a0002c0002t0009g0280 a0002c0002t0060g0224 a0002c0002t0087g0301 a0002c0002t0009g0280 a0002c0002t0060g0224 a0002c0002t0087g0301	3	68	0.0441	512	c.-25 others(523): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAA TACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATA CTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACT ATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTAT CACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTAT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2168		chr11	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(505): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTAT TAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTA AGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAG AGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAG GTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGGTAGTATTAAGAGGT GGTAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0011 a0011	a0011c0018 a0011c0018	a0011c0018t0005 a0011c0018t0005	a0011c0018t0005g0213 a0011c0018t0005g0213	1	66	0.0152	512	c.-25 others(523): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTACCACCTCTTAATACTACCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAA TACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATA CTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACT ATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTAT CACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTAT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2168		chr11	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(505): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTAT TAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTA AGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAG AGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGATAGTATTAAGAG GTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGT GATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	66	0.0152	512	c.-25 others(523): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAA TACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATA CTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACT ACCACCTCTTAATACTACCACCTCTTAATACTATCACCTCTTAATACTAT CACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTAT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2168		chr11	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(505): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGT ATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTAT TAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTA AGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAG AGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAG GTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGT GATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0017 a0002c0003t0005g0017	1	66	0.0152	512	c.-25 others(523): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAA TACTATCACCTCTTAATACTATCACCTCTTAATACTACCACCTCTTAATA CTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACT ACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTAC CACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTAT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2168		chr11	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(505): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGT ATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTAT TAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTA AGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAG AGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAG GTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGT GATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0004 a0004	a0004c0039 a0004c0039	a0004c0039t0001 a0004c0039t0001	a0004c0039t0001g0091 a0004c0039t0001g0091	1	66	0.0152	512	c.-25 others(523): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTACCACCTCTT AATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAA TACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATA CTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACT ACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTAC CACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTAT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2168		chr11	TogoVar
CELF2_chr10_11012872_11341675	11107986	A A	ACTTCCCT others(505): Show ACTTCCCTCCCTCCCTCTCCCCCTTCTTCCCCTCCCCTTCCCCACTTCCC CCTTCTTCCCCTCCCCTTCCCCACTTCCCCCTTCTTCCCCCCCTTCCCCA CTTCCCCCTTCTTCCCCTTCCTACTCCCCCTCCCCCTTCCCACTCCCCCT TCCCCTTCCCACTCCCCCTTCCCCCTTCCCACTCCCCCTTCCCACTTCCC ACTCCCCCCTTCCCCCTTCCTACTCCCCCTTCCCCCTCTTCCTACTGCCC CTTCTCCCTCTTCCTACTTTCTACTCTCCCTTCCTCCTTCCCCCTACCGT CTTCCCCTCTCCCCCTCTCCCTACTCCCTCCATCTCCGCCTCTCCCCACT CCCCACTCCCTCCCTCTCCCTACTCCCCACTCCCTCCTTCTCCCCCCTCT CCCCACTCCCTCCCTCTCCCCCTCTCCCTCTCTCCCCACTCTCTCCCTCT CCCCACTCCGCACTCCCTCCCTCTCCCCCCTCCCCACTCCCCACTCCCTC CCTCTTCCCCCCC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp2 HG00735.hp1 others(23): Show HG00642.hp1 HG00642.hp2 HG00735.hp1 HG01074.hp2 HG01496.hp1 HG01517.hp2 HG01952.hp2 HG01978.hp2 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02300.hp1 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02622.hp1 HG02698.hp2 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG04199.hp2 HG06807.hp2 NA18906.hp2 NA19030.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(19): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0001t0016 a0001c0001t0019 a0001c0001t0021 a0001c0001t0025 a0001c0001t0041 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0008 a0001c0002t0009 a0001c0002t0033 a0001c0002t0051 a0001c0003t0002 a0001c0003t0004 a0001c0003t0022 a0001c0004t0001 a0001c0004t0003 a0001c0004t0040 a0001c0004t0047	a0001c0001t0001g0026 a0001c0001t0003g0071 a0001c0001t0003g0149 others(23): Show a0001c0001t0001g0026 a0001c0001t0003g0071 a0001c0001t0003g0149 a0001c0001t0011g0157 a0001c0001t0016g0153 a0001c0001t0019g0036 a0001c0001t0021g0022 a0001c0001t0025g0065 a0001c0001t0041g0100 a0001c0002t0001g0033 a0001c0002t0002g0002 a0001c0002t0002g0073 a0001c0002t0003g0165 a0001c0002t0008g0028 a0001c0002t0009g0055 a0001c0002t0033g0001 a0001c0002t0051g0020 a0001c0003t0002g0021 a0001c0003t0004g0024 a0001c0003t0004g0029 a0001c0003t0022g0155 a0001c0004t0001g0072 a0001c0004t0001g0152 a0001c0004t0003g0025 a0001c0004t0040g0141 a0001c0004t0047g0156	26	27	0.9630	512	c.75- others(529): Show c.75-57499_75-57498insTTCCCTCCCTCCCTCTCCCCCTTCTTCC CCTCCCCTTCCCCACTTCCCCCTTCTTCCCCTCCCCTTCCCCACTTCCCC CTTCTTCCCCCCCTTCCCCACTTCCCCCTTCTTCCCCTTCCTACTCCCCC TCCCCCTTCCCACTCCCCCTTCCCCTTCCCACTCCCCCTTCCCCCTTCCC ACTCCCCCTTCCCACTTCCCACTCCCCCCTTCCCCCTTCCTACTCCCCCT TCCCCCTCTTCCTACTGCCCCTTCTCCCTCTTCCTACTTTCTACTCTCCC TTCCTCCTTCCCCCTACCGTCTTCCCCTCTCCCCCTCTCCCTACTCCCTC CATCTCCGCCTCTCCCCACTCCCCACTCCCTCCCTCTCCCTACTCCCCAC TCCCTCCTTCTCCCCCCTCTCCCCACTCCCTCCCTCTCCCCCTCTCCCTC TCTCCCCACTCTCTCCCTCTCCCCACTCCGCACTCCCTCCCTCTCCCCCC TCCCCACTCCCCACTCCCTCCCTCTTCCCCCCCC	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF2_chr10_11012872_11341675	11107986	A A	ACTTCCCT others(505): Show ACTTCCCTCCCTCCCTCTCCCCCTTCTTCCCCTCCCCTTCCCCACTTCCC CCTTCTTCCCCTCCCCTTCCCCACTTCCCCCTTCTTCCCCCCTTCCCCAC TTCCCCCTTCTTCCCCTTCCTACTCCCCCTCCCCCTTCCCACTCCCCCTT CCCCTTCCCACTCCCCCTTCCCCCTTCCCACTCCCCCTTCCCACTTCCCA CTCCCCCCTTCCCCCTTCCAACTCCCCCTTCCCCCTCTTCCTACTGCCCC TTCTCCCTCTTCCTACTTTCTACTCTCCCTTCCTCCTTCCCCCTACCGTC TTCCCCTCTCCCCCTCTCCCTACTCCCTCCATCTCCGCCTCTCCCCACTC CCCACTCCCTCCCTCTCCCTACTCCCCACTCCCTCCTTCTCCCCCCTCTC CCCACTCCCTCCCTCTCCCCCTCTCCCTCTCTCCCCACTCTCTCCCTCTC CCCACTCCGCACTCCCTCCCTCTCCCCCCTCCCCACTCCCCACTCCCTCC CTCTTCCCCCCCC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0061 a0001c0002t0002g0061	1	2	0.5000	512	c.75- others(529): Show c.75-57499_75-57498insTTCCCTCCCTCCCTCTCCCCCTTCTTCC CCTCCCCTTCCCCACTTCCCCCTTCTTCCCCTCCCCTTCCCCACTTCCCC CTTCTTCCCCCCTTCCCCACTTCCCCCTTCTTCCCCTTCCTACTCCCCCT CCCCCTTCCCACTCCCCCTTCCCCTTCCCACTCCCCCTTCCCCCTTCCCA CTCCCCCTTCCCACTTCCCACTCCCCCCTTCCCCCTTCCAACTCCCCCTT CCCCCTCTTCCTACTGCCCCTTCTCCCTCTTCCTACTTTCTACTCTCCCT TCCTCCTTCCCCCTACCGTCTTCCCCTCTCCCCCTCTCCCTACTCCCTCC ATCTCCGCCTCTCCCCACTCCCCACTCCCTCCCTCTCCCTACTCCCCACT CCCTCCTTCTCCCCCCTCTCCCCACTCCCTCCCTCTCCCCCTCTCCCTCT CTCCCCACTCTCTCCCTCTCCCCACTCCGCACTCCCTCCCTCTCCCCCCT CCCCACTCCCCACTCCCTCCCTCTTCCCCCCCCC	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF5_chr19_3219661_3302076	3235518	A A	ATGGATTG others(505): Show ATGGATTGGTGGATGGATGAATGTGTGGACAGATGGATGGGTGGATGGAT GAATGGGTGGATGGATGGAAGGGTTTGTGGATGAATGGGTGGATGGATGG ATGGGTGTGTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGAT GGATGGATAGATGGGTGGATGGGTGGATGAATGATGGGTGGATGGGTGAG TGGGTGGATATATGGGTGGGTGGATTGGTGAATGAATTGTGGGTGGATAG GTGGGTGGGTGGATGGGTGGATGGTGGGTGGTGGGTGAATGGGTGTGTAT TTGGGTGAGTGAGTAGGTGGATGGATGGATGGGTGGATGAATAGGTGGGT GGGTGGATGGATGAATGAATGGATGGATGGATGAATAGGTGGGTGGGTGG ATGGGTGAATGAATGGATGGATGGATGAATAGGTGGGTGGGTGGATGGGT GGATGAGTGGATGGGTGGATGGATGTGTGGATGGGTGGGTGGATGGATGA ATGAATGGATGGG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02559.hp2 HG02145.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0003t0002 a0001c0001t0004 a0001c0003t0002	a0001c0001t0004g0189 a0001c0003t0002g0232 a0001c0001t0004g0189 a0001c0003t0002g0232	2	129	0.0155	512	c.259 others(531): Show c.259+10525_259+10526insTGGTGGATGGATGAATGTGTGGACAG ATGGATGGGTGGATGGATGAATGGGTGGATGGATGGAAGGGTTTGTGGAT GAATGGGTGGATGGATGGATGGGTGTGTGGTTGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATAGATGGGTGGATGGGTGGATGAAT GATGGGTGGATGGGTGAGTGGGTGGATATATGGGTGGGTGGATTGGTGAA TGAATTGTGGGTGGATAGGTGGGTGGGTGGATGGGTGGATGGTGGGTGGT GGGTGAATGGGTGTGTATTTGGGTGAGTGAGTAGGTGGATGGATGGATGG GTGGATGAATAGGTGGGTGGGTGGATGGATGAATGAATGGATGGATGGAT GAATAGGTGGGTGGGTGGATGGGTGAATGAATGGATGGATGGATGAATAG GTGGGTGGGTGGATGGGTGGATGAGTGGATGGGTGGATGGATGTGTGGAT GGGTGGGTGGATGGATGAATGAATGGATGGGTGGAT	CELF5	ENSG00000161082.13	transcript	ENST00000292672.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CENPJ_chr13_24877279_24927861	24881903	G G	GATATATA others(505): Show GATATATAGATGCATCTATATAGATATATAGATGCATCTATATAGATATA TAGATGCATCTATATAGATATATAATCTATATAGATGATATATAGATACA TCTATATAGATATATAGATACATCTATATAGATATATAGATACATCTATA TAGATACATCTATATATAGATACATCTATATATAGATACATCTATATATA GATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGA TACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATA CATCTATATATAGATACATCTATATATAGATACATCTATATATAGATACA TCTATATATAGATACATCTATATATAGATACATCTATATATAGATACATC TATATATAGATACATCTATATATAGATACATCTATATATAGATACATCTA TATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATA TATAGATACATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0012 a0001c0002t0001g0012	1	411	0.0024	512	c.12 others(523): Show c.1273_*1274insAGATGTATCTATATATAGATGTATCTATATATAG ATGTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGAT GTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGT ATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGTAT CTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGTATCT ATATATAGATGTATCTATATATAGATGTATCTATATATAGATGTATCTAT ATATAGATGTATCTATATATAGATGTATCTATATATAGATGTATCTATAT ATAGATGTATCTATATATAGATGTATCTATATAGATGTATCTATATATCT ATATAGATGTATCTATATATCTATATAGATGTATCTATATATCATCTATA TAGATTATATATCTATATAGATGCATCTATATATCTATATAGATGCATCT ATATATCTATATAGATGCATCTATATAT	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		375		chr13	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(505): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCT TCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTTC CTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCT CCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCC TTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCTTCCCCCTTCCTTCT TCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCC TCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCC CTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTTACC CCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTC CTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0046 a0002c0001t0002g0046	1	8	0.1250	512	c.69 others(523): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCC CTCCTCCCTTCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTC CCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCG TCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCC CTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCC TTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCC TTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCC CTTTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCA CCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTT CCCCCTTCCTCCCTCCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CFAP61_chr20_20047532_20365698	20356115	C C	CTGAGGGG others(505): Show CTGAGGGGAAGTGGTCACACTGAGGGGGGGTGGTCACACTGAGGGGAAGT GGTCACACTGAGGGGGGGTGGTCACACTGAGGGGAGGTGGTCATACTGTG AGTGAGGAGCTAGTCACACTGAGGGGAGGGGTCATACTGCGAGTGGAGGT AGTCACACTGTGAAGGGTGGTAGTCACACTGAGAGGAGGTGGTCACACTG AGGGGAAGTGGTCACACTGAGGGGAAGTGGTCACACTGAGGGGGGGTGGT CACACTGAGAGGGGAGGTGGTCACACTGAGAGGAGGTGGTCACACTGAGG GGAAGTGGTCACACTGAGGGGGGGTGGTCACACTGAGGGGAGGTGGTCAT ACTGTGAGTGAGGAGCTAGTCACACTGAGGGGAGGGGTCATACTGCGAGT GGAGGTAGTCACACTGTGAAGGGTGGTAGTCACACTGAGAGGAGGTGGTC ACACTGAGGGGAAGTGGTCACACTGAGGGGAAGTGGTCACACTGAGGGGG GGTGGTCACACTG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0003 a0006c0011t0003	a0006c0011t0003g0089 a0006c0011t0003g0089	1	27	0.0370	512	c.351 others(531): Show c.3514-4087_3514-4086insAGTGGTCACACTGAGGGGGGGTGGTC ACACTGAGGGGAAGTGGTCACACTGAGGGGGGGTGGTCACACTGAGGGGA GGTGGTCATACTGTGAGTGAGGAGCTAGTCACACTGAGGGGAGGGGTCAT ACTGCGAGTGGAGGTAGTCACACTGTGAAGGGTGGTAGTCACACTGAGAG GAGGTGGTCACACTGAGGGGAAGTGGTCACACTGAGGGGAAGTGGTCACA CTGAGGGGGGGTGGTCACACTGAGAGGGGAGGTGGTCACACTGAGAGGAG GTGGTCACACTGAGGGGAAGTGGTCACACTGAGGGGGGGTGGTCACACTG AGGGGAGGTGGTCATACTGTGAGTGAGGAGCTAGTCACACTGAGGGGAGG GGTCATACTGCGAGTGGAGGTAGTCACACTGTGAAGGGTGGTAGTCACAC TGAGAGGAGGTGGTCACACTGAGGGGAAGTGGTCACACTGAGGGGAAGTG GTCACACTGAGGGGGGGTGGTCACACTGTGAGGGGA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL19A1_chr6_69861556_70217468	69920974	G G	GTATATTC others(505): Show GTATATTCATATATATATTCATATGTATATTCATATATATGATATATATC ATATATACATATGATATATACATGATATATATGATATATATGATATATAT GATATATATATGATATATATGATACATATGATATATATGATATATATATG ATACAAATGATATATATGATATATATGATATATATCAGATATATATATCA TATATATCATATATATCATTTGTATCATATATATATCATATATATCATAT GTATCATATATATCATGTATATATCATATATATCATATATATCATATATG TATTCATATATATCATATATATTCATATATCATATATATTCATATATATC ATATATTCATATATATCATATATATTCATATATATCATATATATTCATAT ATATATCATATATATTCATATATATATCATATATATTCATATATATATCA TATATATTCATATATATATCATATATATTCATATATATATCATATATATT CATATATATCATA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0005 a0001c0007t0005	a0001c0007t0005g0096 a0001c0007t0005g0096	1	4	0.2500	512	c.267 others(529): Show c.267-6912_267-6911insGTATATTCATATATATGATATATATCAT ATATACATATGATATATACATGATATATATGATATATATGATATATATGA TATATATATGATATATATGATACATATGATATATATGATATATATATGAT ACAAATGATATATATGATATATATGATATATATCAGATATATATATCATA TATATCATATATATCATTTGTATCATATATATATCATATATATCATATGT ATCATATATATCATGTATATATCATATATATCATATATATCATATATGTA TTCATATATATCATATATATTCATATATCATATATATTCATATATATCAT ATATTCATATATATCATATATATTCATATATATCATATATATTCATATAT ATATCATATATATTCATATATATATCATATATATTCATATATATATCATA TATATTCATATATATATCATATATATTCATATATATATCATATATATTCA TATATATCATATATATTCATATATATATTCATAT	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL5A1_chr9_134636803_134849843	134760325	C C	CACACCCA others(505): Show CACACCCACACACCCCCACACATACACACATGCACACACACCACACATGC ACACACACCACACATGCACACATACGCATACACACCCACACACCCACACT CATACACACATGCACACACACCACACATGCATACACACCCACGCACCCCC ACACTCATACACACATGCACACACACCACACATGCACACACGCATACACA CCCACACCCCCCCCACTCACACACACGCACACCCCCACACCCCCACACTC ATACACACATGCACACACACCACACAGGCACACACACACCCACGCACCCC CACACTCATACATGCACACACACGCATACACGCCCACACACCCCCATACT CATACACGCCCACACACCCCCACACTCACATGTGCACAGACACCACACAT GCACACACATACATGCACACACACATACACACCCACACCCCCACACTCAT ACACACATGCACACACCACACATGCGCGCACACGCATACACACCCACACA CCCCACACTGATA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0065 a0001c0065	a0001c0065t0003 a0001c0065t0003	a0001c0065t0003g0009 a0001c0065t0003g0009	1	212	0.0047	512	c.193 others(531): Show c.1936-1600_1936-1599insACACCCACACACCCCCACACATACAC ACATGCACACACACCACACATGCACACACACCACACATGCACACATACGC ATACACACCCACACACCCACACTCATACACACATGCACACACACCACACA TGCATACACACCCACGCACCCCCACACTCATACACACATGCACACACACC ACACATGCACACACGCATACACACCCACACCCCCCCCACTCACACACACG CACACCCCCACACCCCCACACTCATACACACATGCACACACACCACACAG GCACACACACACCCACGCACCCCCACACTCATACATGCACACACACGCAT ACACGCCCACACACCCCCATACTCATACACGCCCACACACCCCCACACTC ACATGTGCACAGACACCACACATGCACACACATACATGCACACACACATA CACACCCACACCCCCACACTCATACACACATGCACACACCACACATGCGC GCACACGCATACACACCCACACACCCCACACTGATA	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	18/65			chr9	TogoVar
COMMD9_chr11_36267292_36294424	36287046	A A	ATATGTAT others(505): Show ATATGTATACTACATACTATGTATATCATATAGTATGTATACTACATACT ATGTATATCATATAGTATGTATACTACATACTATGTATATCATATAGTAT GTATACTACATACTATGTATATCATATAGTATGTATACTACATACTATGT ATATCATATAGTATGTATACTACATACTATGTATATCATATAGTATGTAT ACTACATACTATGTATATCATATAGTATGTATACTACATACTATGTATAT CATATAGTATGTATACTACATACTATGTATATCATATAGTATGTATACTA CATACTATGTATATCATATAGTATGTATACTACATACTATGTATATCATA TAGTATGTATACTACATACTATGTATATCATATAGTATGTATACTACATA CTATGTATATCATATAGTATGTATACTACATACTATGTATATCATATAGT ATGTATACTACATACTATGTATATCATATAGTATGTATACTACATACTAT GTATATCATATAG	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA19077.hp1 NA18986.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0046 a0001c0001t0003g0046	2	275	0.0073	512	c.51+ others(527): Show c.51+2315_51+2316insCTATATGATATACATAGTATGTAGTATACA TACTATATGATATACATAGTATGTAGTATACATACTATATGATATACATA GTATGTAGTATACATACTATATGATATACATAGTATGTAGTATACATACT ATATGATATACATAGTATGTAGTATACATACTATATGATATACATAGTAT GTAGTATACATACTATATGATATACATAGTATGTAGTATACATACTATAT GATATACATAGTATGTAGTATACATACTATATGATATACATAGTATGTAG TATACATACTATATGATATACATAGTATGTAGTATACATACTATATGATA TACATAGTATGTAGTATACATACTATATGATATACATAGTATGTAGTATA CATACTATATGATATACATAGTATGTAGTATACATACTATATGATATACA TAGTATGTAGTATACATACTATATGATATACATAGTATGTAGTATACATA CTATATGATATACATAGTATGTAGTATACATA	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
COMMD9_chr11_36267292_36294424	36287056	T T	TACATACT others(505): Show TACATACTATGTATATCATATAGTATGTATACCACATACTATGTATATCA TATAGTATGTATACCACATACTATGTATATCATATAGTATGTATACCACA TACTATGTATATCATATAGTATGTATACCACATACTATGTATATCATATA GTATGTATACCACATACTATGTATATCATATAGTATGTATACCACATACT ATGTATATCATATAGTATGTATACCACATACTATGTATATCATATAGTAT GTATACCACATACTATGTATATCATATAGTATGTATACCACATACTATGT ATATCATATAGTATGTATACCACATACTATGTATATCATATAGTATGTAT ACCACATACTATGTATATCATATAGTATGTATACCACATACTATGTATAT CATATAGTATGTATACCACATACTATGTATATCATATAGTATGTATACCA CATACTATGTATATCATATAGTATGTATACCACATACTATGTATATCATA TAGTATGTATACC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02965.hp2 HG03453.hp1 others(1): Show HG02895.hp2 HG02965.hp2 HG03453.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0007 a0001c0004t0007 a0001c0001t0007 a0001c0004t0007	a0001c0001t0007g0043 a0001c0001t0007g0154 a0001c0004t0007g0155 a0001c0001t0007g0043 a0001c0001t0007g0154 a0001c0004t0007g0155	4	445	0.0090	512	c.51+ others(527): Show c.51+2305_51+2306insGGTATACATACTATATGATATACATAGTAT GTGGTATACATACTATATGATATACATAGTATGTGGTATACATACTATAT GATATACATAGTATGTGGTATACATACTATATGATATACATAGTATGTGG TATACATACTATATGATATACATAGTATGTGGTATACATACTATATGATA TACATAGTATGTGGTATACATACTATATGATATACATAGTATGTGGTATA CATACTATATGATATACATAGTATGTGGTATACATACTATATGATATACA TAGTATGTGGTATACATACTATATGATATACATAGTATGTGGTATACATA CTATATGATATACATAGTATGTGGTATACATACTATATGATATACATAGT ATGTGGTATACATACTATATGATATACATAGTATGTGGTATACATACTAT ATGATATACATAGTATGTGGTATACATACTATATGATATACATAGTATGT GGTATACATACTATATGATATACATAGTATGT	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
COMMD9_chr11_36267292_36294424	36287061	A A	ACTATGTA others(505): Show ACTATGTACATCATATAGTATGTATACTACATGCTATGTACATCATATAG TATGTATACTACATGCTATGTACATCATATAGTATGTATACTACATGCTA TGTACATCATATAGTATGTATACTACATGCTATGTACATCATATAGTATG TATACTACATGCTATGTACATCATATAGTATGTATACTACATGCTATGTA CATCATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATA CTACATGCTATGTACATCATATAGTATGTATACTACATGCTATGTACATC ATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATACTAC ATGCTATGTACATCATATAGTATGTATACTACATGCTATGTACATCATAT AGTATGTATACTACATGCTATGTACATCATATAGTATGTATACTACATGC TATGTACATCATATAGTATGTATACTACATGCTATGTACATCATATAGTA TGTATACTACATG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0102 a0001c0001t0006g0102	1	426	0.0023	512	c.51+ others(527): Show c.51+2300_51+2301insCATGTAGTATACATACTATATGATGTACAT AGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATAC TATATGATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCA TGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATACTATA TGATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTA GTATACATACTATATGATGTACATAGCATGTAGTATACATACTATATGAT GTACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTAT ACATACTATATGATGTACATAGCATGTAGTATACATACTATATGATGTAC ATAGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTATACAT ACTATATGATGTACATAGCATGTAGTATACATACTATATGATGTACATAG CATGTAGTATACATACTATATGATGTACATAG	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
COMMD9_chr11_36267292_36294424	36287093	A A	ACTATGTA others(505): Show ACTATGTACATCATATAGTATGTATACTACATGCTATGTACATCATATAG TATGTATACTACATGCTATGTACATCATATAGTATGTATACTACATGCTA TGTACATCATATAGTATGTATACTACATGCTATGTACATCATATAGTATG TATACTACATGCTATGTACATCATATAGTATGTATACTACATGCTATGTA CATCATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATA CTACATGCTATGTACATCATATAGTATGTATACTACATGCTATGTACATC ATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATACTAC ATGCTATGTACATCATATAGTATGTATACTACATGCTATGTACATCATAT AGTATGTATACTACATGCTATGTACATCATATAGTATGTATACTACATGC TATGTACATCATATAGTATGTATACTACATGCTATGTACATCATATAGTA TGTATACTACATG	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0088 a0001c0001t0002g0088	1	353	0.0028	512	c.51+ others(527): Show c.51+2268_51+2269insCATGTAGTATACATACTATATGATGTACAT AGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATAC TATATGATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCA TGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATACTATA TGATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTA GTATACATACTATATGATGTACATAGCATGTAGTATACATACTATATGAT GTACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTAT ACATACTATATGATGTACATAGCATGTAGTATACATACTATATGATGTAC ATAGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTATACAT ACTATATGATGTACATAGCATGTAGTATACATACTATATGATGTACATAG CATGTAGTATACATACTATATGATGTACATAG	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
COMMD9_chr11_36267292_36294424	36287279	C C	CTACATAC others(505): Show CTACATACTATGTATATCATATAGTATGTATACTACATACTATGTATATC ATATAGTATGTATACTACATACTATGTATATCATATAGTATGTATACTAC ATACTATGTATATCATATAGTATGTATACTACATACTATGTATATCATAT AGTATGTATACTACATACTATGTATATCATATAGTATGTATACTACATAC TATGTATATCATATAGTATGTATACTACATACTATGTATATCATATAGTA TGTATACTACATACTATGTATATCATATAGTATGTATACTACATACTATG TATATCATATAGTATGTATACTACATACTATGTATATCATATAGTATGTA TACTACATACTATGTATATCATATAGTATGTATACTACATACTATGTATA TCATATAGTATGTATACTACATACTATGTATATCATATAGTATGTATACT ACATACTATGTATATCATATAGTATGTATACTACATACTATGTATATCAT ATAGTATGTATAG	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0277 a0001c0001t0017g0277	1	446	0.0022	512	c.51+ others(527): Show c.51+2082_51+2083insCTATACATACTATATGATATACATAGTATG TAGTATACATACTATATGATATACATAGTATGTAGTATACATACTATATG ATATACATAGTATGTAGTATACATACTATATGATATACATAGTATGTAGT ATACATACTATATGATATACATAGTATGTAGTATACATACTATATGATAT ACATAGTATGTAGTATACATACTATATGATATACATAGTATGTAGTATAC ATACTATATGATATACATAGTATGTAGTATACATACTATATGATATACAT AGTATGTAGTATACATACTATATGATATACATAGTATGTAGTATACATAC TATATGATATACATAGTATGTAGTATACATACTATATGATATACATAGTA TGTAGTATACATACTATATGATATACATAGTATGTAGTATACATACTATA TGATATACATAGTATGTAGTATACATACTATATGATATACATAGTATGTA GTATACATACTATATGATATACATAGTATGTA	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
CRELD2_chr22_49913634_49932537	49926713	C C	CCCCACCC others(505): Show CCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCCC CTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCC CCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCCC CTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCC CCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCCC CTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCC CCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCCC CTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCC CCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCCC CTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCC CCCCACCCCGGGT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	54	0.0185	512	c.101 others(529): Show c.1010-539_1010-538insACCCCGGGTCCCCTCTTGCCCCTCCCTC CCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCC CCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTC CCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCC CCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTC CCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCC CCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTC CCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCC CCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTC CCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCC CCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCC	CRELD2	ENSG00000184164.15	transcript	ENST00000328268.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr22	TogoVar
CRTC3_chr15_90524923_90650345	90647663	T T	TTCTCCTC others(505): Show TTCTCCTCCTCCACACCTGTCCTCCTCCACACTCATCCTCCTCACCGTTC CTCCACCACATCCCTCCTCCTCCACACCCCTCCTCACCCCTTGTCCTCCT CCAAACGCTTCTTCCTCCTGTTTCTTCCTCCACACCCCTCCTGCTCCACA TCCCTCCCCTCCATCCCCTCCACACCCCTCCCCCTCCTCACCCCGTCTCC TCCTCCACACCCCTCCTCCTCCATACCCCTCCTCCACCTCACACCTCCCC CTCACCCCTTCTCCTCCACCACACCCCTCCTCCTCCACACCCCTCCTCCG CCTCACACCTCCCTCACCCCTCCTCCTCCACACCTTGTCCTCCTCCACAC CCCTCCTCTGCCTCACCCCTCCTCCTCCTCCACACCCCTTGTCCTCCTCC ACACCCCTCCTCCGCCTCACCCCCCTCCTCACCCCTTCTCCTCTCCACAT CCCTCCTCCTCAACCCTCCTGCTCCACATCCCTCCCCTTCACACCCCTCC TCATCCTCACACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0028 a0003c0014t0028	a0003c0014t0028g0253 a0003c0014t0028g0253	1	271	0.0037	512	c.55 others(523): Show c.5523_*5524insTCTCCTCCTCCACACCTGTCCTCCTCCACACTCA TCCTCCTCACCGTTCCTCCACCACATCCCTCCTCCTCCACACCCCTCCTC ACCCCTTGTCCTCCTCCAAACGCTTCTTCCTCCTGTTTCTTCCTCCACAC CCCTCCTGCTCCACATCCCTCCCCTCCATCCCCTCCACACCCCTCCCCCT CCTCACCCCGTCTCCTCCTCCACACCCCTCCTCCTCCATACCCCTCCTCC ACCTCACACCTCCCCCTCACCCCTTCTCCTCCACCACACCCCTCCTCCTC CACACCCCTCCTCCGCCTCACACCTCCCTCACCCCTCCTCCTCCACACCT TGTCCTCCTCCACACCCCTCCTCTGCCTCACCCCTCCTCCTCCTCCACAC CCCTTGTCCTCCTCCACACCCCTCCTCCGCCTCACCCCCCTCCTCACCCC TTCTCCTCTCCACATCCCTCCTCCTCAACCCTCCTGCTCCACATCCCTCC CCTTCACACCCCTCCTCATCCTCACACC	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		2319		chr15	TogoVar
DCC_chr18_52335197_53540899	52465771	T T	TGAAAATG others(505): Show TGAAAATGTCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATG CTGGTGCGCTGCACCCACTAACGTGTCATCTAGCATTAGGTATATCTCCC AATGCTATCCCTCCCCACTCCCCCGACCCCACCACAGTCCCCAGAGTGTG ACATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTAT GAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGA GAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGACATGAACTCA TCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTT CTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTG CTATTGTGAATAGTGCCGCAATAAGCACATGTACCCTAAAACTTAGAGTA TAATAAAAAAAAAAAATTAAAAAAAAAAATAAAAATAAAAATAAAAAAAA AAAAAAAAAGAAA	intron_variant intron_variant	MODIFIER	HG01433.hp2 NA20129.hp1 HG01433.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0004 a0002c0001t0001 a0001c0003t0004 a0002c0001t0001	a0001c0003t0004g0092 a0002c0001t0001g0093 a0001c0003t0004g0092 a0002c0001t0001g0093	2	114	0.0175	512	c.91+ others(531): Show c.91+124902_91+124903insACATTGTGCAGGTTAGTTACATATGT ATACATGTGCCATGCTGGTGCGCTGCACCCACTAACGTGTCATCTAGCAT TAGGTATATCTCCCAATGCTATCCCTCCCCACTCCCCCGACCCCACCACA GTCCCCAGAGTGTGACATTCCCCTTCCTGTGTCCATGTGATCTCATTGTT CAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTG CGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAA AGGACATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTAT ATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTG GTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAGCACATGTACCC TAAAACTTAGAGTATAATAAAAAAAAAAAATTAAAAAAAAAAATAAAAAT AAAAATAAAAAAAAAAAAAAAAAGAAAGAAAATGTC	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DIP2C_chr10_269201_694668	478356	G G	GAAGAGGG others(505): Show GAAGAGGGGAGGGGAGAAGAGGGGAGGGGAGAAGAGGGGAGGGGAGAAGA GGGGAGGGGAGAAGAGGGGAGGGGAGAAGAGGGGAGGGGAGGGGAGAAGA GGGGAGGGGAGGGGAGAAAAGGGGAGGGGAGAAAAGGGGAGGGGAGAAAA GGGGAGGGGAGAAAAGGGGAGGGGAGAAAAGGGGAGGGGAGGGGAGGGGA GGGGAGAAGAGGGGAGGGGAGAGAAGGGAGGGGAGGGGAGAAGAAGGGAG GGGAGGGGAGAAGAAGGGAGGGGAGGGGGAGGGCGGGAGCAGGGAGGGAG GAGGGGAGAAGAAGGGAGGAGAGGGGGAGTGGATCGGGTGGCTGCTGGGT GTGCGGGAGGGGAGGGAGAAGAGGGAGGGAGGGGAGAAGAGGGGAGGGGA GGGGAGGGAGAGGGGAGGGGGAGAAGAAGGGAGGGGAGGGGAGGGAGGAG GAGGGGAGAAGAGGGAGGGGAGGGAGAGAGGGAGAGGGGAGGGGAGGAGA GGGAGGGAGGGGA	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0083 a0001c0004t0001g0083	1	86	0.0116	512	c.158 others(529): Show c.158-5808_158-5807insTCCCCTCCCTCCCTCTCCTCCCCTCCCC TCTCCCTCTCTCCCTCCCCTCCCTCTTCTCCCCTCCTCCTCCCTCCCCTC CCCTCCCTTCTTCTCCCCCTCCCCTCTCCCTCCCCTCCCCTCCCCTCTTC TCCCCTCCCTCCCTCTTCTCCCTCCCCTCCCGCACACCCAGCAGCCACCC GATCCACTCCCCCTCTCCTCCCTTCTTCTCCCCTCCTCCCTCCCTGCTCC CGCCCTCCCCCTCCCCTCCCTTCTTCTCCCCTCCCCTCCCTTCTTCTCCC CTCCCCTCCCTTCTCTCCCCTCCCCTCTTCTCCCCTCCCCTCCCCTCCCC TCCCCTTTTCTCCCCTCCCCTTTTCTCCCCTCCCCTTTTCTCCCCTCCCC TTTTCTCCCCTCCCCTTTTCTCCCCTCCCCTCCCCTCTTCTCCCCTCCCC TCCCCTCTTCTCCCCTCCCCTCTTCTCCCCTCCCCTCTTCTCCCCTCCCC TCTTCTCCCCTCCCCTCTTCTCCCCTCCCCTCTT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar

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