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
ICA1_chr7_8108184_8267167	8152669	C C	CATTATCT others(440): Show CATTATCTCCTTCATCACCACTACCCCCACCACTACCACCATCACCTCCT CCACCATCACCACCACCACCACAACCACCATCTCCTTCATCACCACTACC CCCACCACTACCACCACCACCACCATTATCTCCTTCATCACCACTACCCC CACCACTACCACCATCACCTCCTCCACCATCACCACCACCACCACAACCA CCATCTCCTTCATCACCACTACCCCCACCACTATCACCATCACCATCACC TCCACCACCACCACCATCTCCTTCACCACCACTACCCCCACCACTACCAC CATCACCTCTTCCACCACTACCACCATCTCCTCCACCACCACTACCACCA CCACCACCATCTCCTTCACCACCACTACCCCCAGCACTACCACCATCACC TCCTCCACCACTACCACCATCTCCTCCACCACCACCACCACCACCACA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0272 a0001c0001t0002g0272	1	274	0.0037	447	c.804 others(464): Show c.804+4446_804+4447insTGTGGTGGTGGTGGTGGTGGTGGAGGAG ATGGTGGTAGTGGTGGAGGAGGTGATGGTGGTAGTGCTGGGGGTAGTGGT GGTGAAGGAGATGGTGGTGGTGGTGGTAGTGGTGGTGGAGGAGATGGTGG TAGTGGTGGAAGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGGTGAAG GAGATGGTGGTGGTGGTGGAGGTGATGGTGATGGTGATAGTGGTGGGGGT AGTGGTGATGAAGGAGATGGTGGTTGTGGTGGTGGTGGTGATGGTGGAGG AGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGAAGGAGATAATGGTG GTGGTGGTGGTAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTGGTTGT GGTGGTGGTGGTGATGGTGGAGGAGGTGATGGTGGTAGTGGTGGGGGTAG TGGTGATGAAGGAGATAAT	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar
IFNAR1_chr21_33319970_33364864	33322606	T T	TACATGGA others(440): Show TACATGGAATATATGTATATGGAATATATACATGGAATATATGTATATGG AATATATACATGGAATATGTGTATATGGAATATATACATGGAATATGTGT ATATGGAATATATACATGGAATATGTGTATATGGAATATATACATGGAAT ATATGTATATGGAATATATACATGGAATATATATATGGAATATATACATG GAATATATATATGGAATATATACATGGAATATATATATATGGAATATATA CATGGAATATATATATATGGAATATATACATGGAATATATATATATAGAA TATATACATGGAATATATATATGGAATATATACATGGAATATATATATAT GGAATATATACATGGAACATATACATGGAATATATACATGGAACATATAC ATGGAATATATACATGGAACATATACATGGAATATATATATATGGAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	323	0.0031	447	c.-24 others(458): Show c.-2450_-2449insACATGGAATATATGTATATGGAATATATACATGG AATATATGTATATGGAATATATACATGGAATATGTGTATATGGAATATAT ACATGGAATATGTGTATATGGAATATATACATGGAATATGTGTATATGGA ATATATACATGGAATATATGTATATGGAATATATACATGGAATATATATA TGGAATATATACATGGAATATATATATGGAATATATACATGGAATATATA TATATGGAATATATACATGGAATATATATATATGGAATATATACATGGAA TATATATATATAGAATATATACATGGAATATATATATGGAATATATACAT GGAATATATATATATGGAATATATACATGGAACATATACATGGAATATAT ACATGGAACATATACATGGAATATATACATGGAACATATACATGGAATAT ATATATATGGAAC	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2363		chr21	TogoVar
INO80_chr15_40973880_41121280	41031547	G G	GAAGGGAG others(440): Show GAAGGGAGGAGGGAGGAAGGGAGGGAGGGAGGAGGGAGGAAGGGAGGAAG GGAGGAGGGAGGAAGGGAGGGAGGAAGGGAGAAAGGGAGGAAGGGAGGGA GGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGG GAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGAAGGGAGGAA GGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGG AAGGGAGGAGGGAGGAAGGGAGGAAGGGAGGAGGGAGGAAGGGAGGAAGG GAGGAGGGAGGAAGGGAGGGAGGAAGGGAGAAAGGGAGGAAGGGAGGGAG GAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGGAGGAAGGG AGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGGAGGA	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA18983.hp2 HG00544.hp1 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0128 a0001c0001t0002g0154 a0001c0001t0002g0128 a0001c0001t0002g0154	2	282	0.0071	447	c.290 others(466): Show c.2908-3812_2908-3811insTCCTCCCTCCCTTCCTCCCTTCCTCC CTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCTTCCT CCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCTTTCTCCCTTC CTCCCTCCCTTCCTCCCTCCTCCCTTCCTCCCTTCCTCCCTCCTCCCTTC CTCCCTTCCTCCCTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTC CCTTCCTCCCTTCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTTCC TCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTTCCTC CCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCTTTCTCCCTTCC TCCCTCCCTTCCTCCCTCCTCCCTTCCTCCCTTCCTCCCTCCTCCCTCCC TCCCTTCCTCCCTCCTCCCTT	INO80	ENSG00000128908.19	transcript	ENST00000648947.1	protein_coding	24/35			chr15	TogoVar
JMJD1C_chr10_63162225_63470977	63234660	T T	TGGTGGTT others(440): Show TGGTGGTTCACGCTTGTAATCCTAGCACTTTGGGAGGCTGAGGCAGGTGA AACGCTGAGCCCAGAGTTTGAGACCAGCCTGGGCAACATGGCGAGACCCT GTTTCTACAAGAAATACAAAAATTAGGCAGGTGTTATGGTGCATGCCTGT AGTCCCAGCTACTTGAGAGGCTGAAGTGGGAGGATTGCTTGAGCATGGGA GGTAGAGGCTGCAGTGAGCCACGATCGCACCACTGCACTCCAGCCTCATC AACAGAGAGAAACCTCCTCTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAACACCAAAAACAAAAACCTTCCCTATCCTATAAAAAAAAACC TTTTAATATGTTAATACTTAAATTTTTAGATTTGCTAAAAATATCGTTAA AGGCCTATAAAAAGAACGAGTTATTTAATGCAATATTAAGCTGGGCAC	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0011 a0011	a0011c0014 a0011c0014	a0011c0014t0001 a0011c0014t0001	a0011c0014t0001g0205 a0011c0014t0001g0205	1	310	0.0032	447	c.448 others(466): Show c.448-14678_448-14677insGTGCCCAGCTTAATATTGCATTAAAT AACTCGTTCTTTTTATAGGCCTTTAACGATATTTTTAGCAAATCTAAAAA TTTAAGTATTAACATATTAAAAGGTTTTTTTTTATAGGATAGGGAAGGTT TTTGTTTTTGGTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TAAGAGGAGGTTTCTCTCTGTTGATGAGGCTGGAGTGCAGTGGTGCGATC GTGGCTCACTGCAGCCTCTACCTCCCATGCTCAAGCAATCCTCCCACTTC AGCCTCTCAAGTAGCTGGGACTACAGGCATGCACCATAACACCTGCCTAA TTTTTGTATTTCTTGTAGAAACAGGGTCTCGCCATGTTGCCCAGGCTGGT CTCAAACTCTGGGCTCAGCGTTTCACCTGCCTCAGCCTCCCAAAGTGCTA GGATTACAAGCGTGAACCACC	JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	3/25			chr10	TogoVar
LMF1_chr16_848634_975984	857636	G G	GAGTGGTG others(440): Show GAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAG TGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGT GTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTC ACGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTC GGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGG GACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGA CGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGG TGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTG AGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGC	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0180 a0001c0003t0001g0180	1	294	0.0034	447	c.153 others(466): Show c.1530-2931_1530-2930insGCACACCCGTCCCGAGACACCACTGC ACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACAC CCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGT CCCGTGACACCACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCC GAGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGT GACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGA CACCACTGCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGAGACA CCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCAC TCACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGACACCACTGCA CACCCGTCCCGAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	857705	G G	GAGTGGTG others(440): Show GAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGT GGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGG TGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTG TCACGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTC TCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACG GGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGAC GGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGG TGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGT GAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGC	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0067 a0001c0067	a0001c0067t0001 a0001c0067t0001	a0001c0067t0001g0056 a0001c0067t0001g0056	1	294	0.0034	447	c.153 others(466): Show c.1530-3000_1530-2999insGCACACCCGTCCCGTGACACCACTCA CACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACC CGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCG TCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCC GAGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGA CACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACA CCACTGCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGAGACACC ACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGTGACACCAC TGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCA CACCCGTCCCGTGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	857706	C C	CAGTGGTG others(440): Show CAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGT GGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTG TCTCAGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTC TCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCAC GGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGG GACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACG GGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGT GTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTG AGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGCA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0073 a0001c0002t0001g0073	1	294	0.0034	447	c.153 others(466): Show c.1530-3001_1530-3000insTGCACACCCGTCCCGTGACACCACTC ACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACAC CCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCC GTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCC CGTGACACCACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGA GACACCACTGCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGAGA CACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGTGACA CCACTGCACACCCGTCCTGAGACACCACTCACACCCGTCCCGAGACACCA CTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACACCACTCA CACCCGTCCCGAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	922943	T T	TGCGTGTT others(440): Show TGCGTGTTGTTGCGAAGGCCCTGTGTGAAAGTCGCCTGGGTTTTCGGGTG TGATGTGGTGTTGGTGTCGTGTTGTTGCGAAGGCCCTGTGTGAAAGTCGC CTGGGTTTTCGGGTGTGATGTGGTGTTGGGGTCGTGTTGTTGCGAAGGCC CTGTGTGAAAGCCGCCTGGGTTTTCGGGTGTGATGTGGTGTTGGGGTCGT GTTGTTGCGAAGGCCCTGTCTGAAAGTCGCCTGGGTTTTCGGGTGTGATG TGGTGTTGGGGTCGTGTTGTTGCGAAGGCCGTGTGAAAGCCGCCTGGGTT TTCGGGTGTGATGTTGGTGTCGTGTTGTTGCGAAGGCCCTGTGTGAAAGT CGCCTGGGTTTTCGGGTGTGATGTGGTGTTGGTGTCGTGTTGTTGCGAAG GCCCTGTGTGAAAGTCGCCTCGGTTTTCGGGTGTGATGTGGTGTTGGC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01258.hp2 HG01978.hp1 others(3): Show HG00741.hp2 HG01258.hp2 HG01978.hp1 HG02300.hp1 HG02683.hp1 HG04204.hp1	a0001 a0001	a0001c0010 a0001c0033 a0001c0010 a0001c0033	a0001c0010t0001 a0001c0033t0001 a0001c0010t0001 a0001c0033t0001	a0001c0010t0001g0115 a0001c0010t0001g0271 a0001c0010t0001g0272 others(3): Show a0001c0010t0001g0115 a0001c0010t0001g0271 a0001c0010t0001g0272 a0001c0010t0001g0273 a0001c0010t0001g0276 a0001c0033t0001g0275	6	294	0.0204	447	c.514 others(466): Show c.514+11300_514+11301insGCCAACACCACATCACACCCGAAAAC CGAGGCGACTTTCACACAGGGCCTTCGCAACAACACGACACCAACACCAC ATCACACCCGAAAACCCAGGCGACTTTCACACAGGGCCTTCGCAACAACA CGACACCAACATCACACCCGAAAACCCAGGCGGCTTTCACACGGCCTTCG CAACAACACGACCCCAACACCACATCACACCCGAAAACCCAGGCGACTTT CAGACAGGGCCTTCGCAACAACACGACCCCAACACCACATCACACCCGAA AACCCAGGCGGCTTTCACACAGGGCCTTCGCAACAACACGACCCCAACAC CACATCACACCCGAAAACCCAGGCGACTTTCACACAGGGCCTTCGCAACA ACACGACACCAACACCACATCACACCCGAAAACCCAGGCGACTTTCACAC AGGGCCTTCGCAACAACACGC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	3/10			chr16	TogoVar
LOC128125818_chr4_6059977_6075162	6067579	G G	GCACTCAA others(440): Show GCACTCAAGCTCTTCTGCACACACAGGTCACCCCCCTGAGCTCCAGGTTC ACTCAAGCTCTTCTGCACACACACACACAGGTCACCCCCTGAGCTCCAGG TTCACTCAAGCTCTTCTGCACACACAGGTCACCCCCCTGAGCTCCAGGTT CACTCAAGCTCTTCTGCACACACAGGTCACCCCCCTGAGCTCCAGGTTCA CTCAAGCTCTTCTGCACACACACACACAGGTCACCCCCTGAGCTCCAGGT TCACTCAAGCTCTTCTGCACACACAGGTCACCCCCCTGAGCTCCAGGTTC ACTCAAGCTCTTCTGCACACACAGGTCACCCCCCTGAGCTCCAGGTTCAC TCAAGCTCTTCTGCACACACACACACAGGTCACCCCCTGAGCTCCAGGTT CACTCAAGCTCTTCTGCACACACAGGTCACCCCCCTGAGCTCCAGGTT	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0187 a0001c0001t0000g0187	1	462	0.0022	447	c.106 others(464): Show c.106+2477_106+2478insAACCTGGAGCTCAGGGGGGTGACCTGTG TGTGCAGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGTGACCTGTGTGT GTGTGTGCAGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGGTGACCTGT GTGTGCAGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGGTGACCTGTGT GTGCAGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGTGACCTGTGTGTG TGTGTGCAGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGGTGACCTGTG TGTGCAGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGGTGACCTGTGTG TGCAGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGTGACCTGTGTGTGT GTGTGCAGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGGTGACCTGTGT GTGCAGAAGAGCTTGAGTG	LOC128125818	ENSG00000284684.1	transcript	ENST00000636216.1	protein_coding	1/1			chr4	TogoVar
MBD3L3_chr19_7051207_7063676	7061746	T T	TATAATAT others(440): Show TATAATATAATATAATTATATAATATATAATTTATATATAATATAATTAT ATAATATATAATTTATATATAATATAATTATATAATATATAATTTATATA TAATATAATTATATAATATATAATTTATATATAATATAATTATATAATAT ATAATTTATATATAATATAATTATATAATATATAATTTATATATAATATA ATTATATAATATATAATTTATATATAATATAATTATATAATATATAATTT ATATATAATATAATTATATAATATATAATTTATATATAATATAATTATAT AATATATAATTTATATATAATATAATTATATAATATATAATTTATATATA ATATAATTATATAATATATAATTTATATATTATATAATTATATAATATAT AATTTATATATAATAGATAATATAATTATATAATATATAAATTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	288	0.0035	447	c.-31 others(458): Show c.-3142_-3141insTATATAATTTATATATTATATAATTATATTATCT ATTATATATAAATTATATATTATATAATTATATAATATATAAATTATATA TTATATAATTATATTATATATAAATTATATATTATATAATTATATTATAT ATAAATTATATATTATATAATTATATTATATATAAATTATATATTATATA ATTATATTATATATAAATTATATATTATATAATTATATTATATATAAATT ATATATTATATAATTATATTATATATAAATTATATATTATATAATTATAT TATATATAAATTATATATTATATAATTATATTATATATAAATTATATATT ATATAATTATATTATATATAAATTATATATTATATAATTATATTATATAT AAATTATATATTATATAATTATATTATATATAAATTATATATTATATAAT TATATTATATTAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3071		chr19	TogoVar
MYDGF_chr19_4652545_4675342	4663531	C C	CACAGCCT others(440): Show CACAGCCTCCAATCTGTGCCCTCTCCACCCACCCCATCCTCATTCTACAC AGCCTCCAATCTATCCTCCCCACCCACCCCACCCTCATTCTACAGCCTCC AATCTACCCTCCCCACCCGTCCTGTCCACATTCTACACAGTCTCCAATCT ACCCTCCCCACCCACCCCATCCTCATTCTACAGCCTCCAATCTGTGCCCT CTCCACCCACCCCATCCTCATTCTACAGCCTCCAATCTGTGCCCTCTCCA CCCATCCCATCCTCATTCTACACAGCCTCCAATCTACGCTCCCATCCACC CCATCCTCATTCTACAGCATCCAATCTACTCTCCCCACCTACCCCATCCT CATTCTACACAGCCTCCAATCTGTGCCCTCTCCACCCACCCCATCCTCAT TCTACACAGCCTCCAATCTACCCTCCCCACCCACCCCATCCTCATTCT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0109 a0002c0002t0002g0109	1	410	0.0024	447	c.287 others(464): Show c.287+1344_287+1345insAGAATGAGGATGGGGTGGGTGGGGAGGG TAGATTGGAGGCTGTGTAGAATGAGGATGGGGTGGGTGGAGAGGGCACAG ATTGGAGGCTGTGTAGAATGAGGATGGGGTAGGTGGGGAGAGTAGATTGG ATGCTGTAGAATGAGGATGGGGTGGATGGGAGCGTAGATTGGAGGCTGTG TAGAATGAGGATGGGATGGGTGGAGAGGGCACAGATTGGAGGCTGTAGAA TGAGGATGGGGTGGGTGGAGAGGGCACAGATTGGAGGCTGTAGAATGAGG ATGGGGTGGGTGGGGAGGGTAGATTGGAGACTGTGTAGAATGTGGACAGG ACGGGTGGGGAGGGTAGATTGGAGGCTGTAGAATGAGGGTGGGGTGGGTG GGGAGGATAGATTGGAGGCTGTGTAGAATGAGGATGGGGTGGGTGGAGAG GGCACAGATTGGAGGCTGT	MYDGF	ENSG00000074842.8	transcript	ENST00000262947.8	protein_coding	3/5			chr19	TogoVar
NFILZ_chr19_8625633_8686151	8656420	C C	CTTCTCTC others(440): Show CTTCTCTCTGAAGCCCACCTCCTCCCGCAGCGCACCTCCTCCCTGAAGCC CCCTTCTTCCTGAAGCCCACCTCTTCCCTGAAGCCCACCTTCTCCCTGAA GCCCACCTCCTCCCACAGCCCACCTCCTCCCTGAAGCCCACCTTCTCTCT GAAGCCCACCTCCTCCCGCAGCGCACCTCCTCCCTGAAGCCCCCTTCTTC CTGAAGCCCACCTCTTCCCTGAAGCCCACCTTCTCCCTACAGCCCACCTT GTGCACAAAGCCAGTGTTCTCCCTGCAGCCCACCTTCTCCCAGAAACCCT CCTGCCTTCTCCACGCAGCCCATCTTCTCTCTGAAGCCCACCTTCTCCCC ACAGCCCACCTCCTCCCGCAGCCCACCTCCTCCCTGAAGCCCACCTCCTC CCACAGCCCACCTCCTCCCTGAAGCCCACCTCCTCCCTGAAGCCCCCT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0099 a0002c0002t0099	a0002c0002t0099g0083 a0002c0002t0099g0083	1	366	0.0027	447	c.-16 others(468): Show c.-163-18130_-163-18129insTCTCTCTGAAGCCCACCTCCTCCC GCAGCGCACCTCCTCCCTGAAGCCCCCTTCTTCCTGAAGCCCACCTCTTC CCTGAAGCCCACCTTCTCCCTGAAGCCCACCTCCTCCCACAGCCCACCTC CTCCCTGAAGCCCACCTTCTCTCTGAAGCCCACCTCCTCCCGCAGCGCAC CTCCTCCCTGAAGCCCCCTTCTTCCTGAAGCCCACCTCTTCCCTGAAGCC CACCTTCTCCCTACAGCCCACCTTGTGCACAAAGCCAGTGTTCTCCCTGC AGCCCACCTTCTCCCAGAAACCCTCCTGCCTTCTCCACGCAGCCCATCTT CTCTCTGAAGCCCACCTTCTCCCCACAGCCCACCTCCTCCCGCAGCCCAC CTCCTCCCTGAAGCCCACCTCCTCCCACAGCCCACCTCCTCCCTGAAGCC CACCTCCTCCCTGAAGCCCCCTT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NHLRC4_chr16_562005_574495	571109	C C	CTGGCTAG others(440): Show CTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGT CTGGCTAGCCTGTGTGTGTGTGTGTCTGTCTGGCTAGCCTGGTGCCCGTG TGTGTGTGTATGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGC TAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGCT CCCGTGGCTAGCCTGGTGCCTGTGTGTGTGTGTGTGTATGTGTCTGGCTA GCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGGGGGGGGG GGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGC GTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGG CGCCCGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG01257.hp1 HG01496.hp1 others(6): Show HG00673.hp2 HG01257.hp1 HG01496.hp1 HG01978.hp2 HG02055.hp2 HG02300.hp1 HG02559.hp1 HG03710.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	9	424	0.0212	447	c.26 others(458): Show c.2690_*2691insTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCC TGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGTCTGGCT AGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTCTGGCTAG CCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGT CTGGCTAGCCTGGCTCCCGTGGCTAGCCTGGTGCCTGTGTGTGTGTGTGT GTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGT GTGTGTGGGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGT GTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGT GTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGTGTCTGGCT AGCCTGGCACCCG	NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding		1615		chr16	TogoVar
NHLRC4_chr16_562005_574495	571109	C C	CTGGCTAG others(440): Show CTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGT CTGGCTAGCCTGTGTGTGTGTGTGTCTGTCTGGCTAGCCTGGTGCCCGTG TGTGTGTGTATGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGC TAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGCT CCCGTGGCTAGCCTGGTGCCTGTGTGTGTGTGTGTGTATGTGTCTGGCTA GCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGTGGGGGGG GGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGC GTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGG CGCCCGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02976.hp1 NA19079.hp2 HG02717.hp1 HG02976.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0001 a0001c0001t0006g0003 a0001c0001t0001g0001 a0001c0001t0006g0003	3	424	0.0071	447	c.26 others(458): Show c.2690_*2691insTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCC TGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGTCTGGCT AGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTCTGGCTAG CCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGT CTGGCTAGCCTGGCTCCCGTGGCTAGCCTGGTGCCTGTGTGTGTGTGTGT GTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGT GTGTGTGTGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGT GTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGT GTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGTGTCTGGCT AGCCTGGCACCCG	NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding		1615		chr16	TogoVar
NINL_chr20_25447697_25590531	25562188	G G	GCCCGGCC others(440): Show GCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCAGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCACCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCCGCCAGCCGCCCCGTCCAG GAGGGAGGTGGGGGGGTCAGCCCCCTGCCTGGCCAGCCACCCCATCCGGG AGGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTCCAGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCC TCTGCCCGGCCAGCCGTCCCGTCCAGGAGGGAGGTGGGGGAGTCAGCCCC CCGCCCGGCCAGCCGCCCCGTCCAGGAGGCTGGTTGGGGGGTCAGCCCCC CGCCCGGCCAGCCGCCCCATCCGGGAGGTGGGGGGGGTCAGCCCCCCA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0097 a0002c0002t0002g0097	1	310	0.0032	447	c.-12 others(466): Show c.-12+23266_-12+23267insTGGGGGGCTGACCCCCCCCACCTCCC GGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCAGCCTCCTG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACTCCCCCACCTCCCTCCTGG ACGGGACGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCTGGACGGGGCGGCTGGCCGGGTGGG GGGCTGACCCCCCCACCTCCCTCCCGGATGGGGTGGCTGGCCAGGCAGGG GGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCGGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCAGAGGG GCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCC CGGACGGGGCGGCTGGCCGGG	NINL	ENSG00000101004.16	transcript	ENST00000278886.11	protein_coding	1/23			chr20	TogoVar
NINL_chr20_25447697_25590531	25562188	G G	GCCCGGCC others(440): Show GCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCAGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCACCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCCGCCAGCCGCCCCGTCCAG GAGGGAGGTGGGGGGGTCAGCCCCCTGCCTGGCCAGCCACCCCATCCGGG AGGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCC TCTGCCCGGCCAGCCGTCCCGTCCAGGAGGGAGGTGGGGGAGTCAGCCCC CCGCCCGGCCAGCCGCCCCGTCCAGGAGGCTGGTTGGGGGGTCAGCCCCC CGCCCGGCCAGCCGCCCCATCCGGGAGGTGGGGGGGGTCAGCCCCCCA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(59): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00639.hp1 HG00642.hp2 HG00735.hp2 HG00738.hp2 HG01081.hp1 HG01106.hp2 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01993.hp2 HG02004.hp1 HG02083.hp1 HG02148.hp1 HG02257.hp1 HG02280.hp2 HG02486.hp1 HG02602.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02886.hp1 HG02896.hp1 HG03017.hp1 HG03041.hp1 HG03239.hp1 HG03239.hp2 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG04204.hp1 NA18906.hp2 NA18962.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp1	a0002 a0012 a0016 others(2): Show a0002 a0012 a0016 a0021 a0027	a0002c0002 a0002c0023 a0002c0027 others(4): Show a0002c0002 a0002c0023 a0002c0027 a0012c0018 a0016c0041 a0021c0034 a0027c0040	a0002c0002t0002 a0002c0002t0005 a0002c0002t0008 others(6): Show a0002c0002t0002 a0002c0002t0005 a0002c0002t0008 a0002c0023t0005 a0002c0027t0002 a0012c0018t0005 a0016c0041t0002 a0021c0034t0002 a0027c0040t0002	a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0006 others(59): Show a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0006 a0002c0002t0002g0007 a0002c0002t0002g0008 a0002c0002t0002g0009 a0002c0002t0002g0010 a0002c0002t0002g0011 a0002c0002t0002g0012 a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0015 a0002c0002t0002g0072 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0095 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0108 a0002c0002t0002g0109 a0002c0002t0002g0112 a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0005g0052 a0002c0002t0005g0062 a0002c0002t0005g0063 a0002c0002t0005g0064 a0002c0002t0005g0065 a0002c0002t0005g0067 a0002c0002t0005g0068 a0002c0002t0005g0073 a0002c0002t0005g0074 a0002c0002t0005g0075 a0002c0002t0005g0116 a0002c0002t0008g0111 a0002c0023t0005g0066 a0002c0027t0002g0088 a0012c0018t0005g0060 a0012c0018t0005g0061 a0016c0041t0002g0094 a0021c0034t0002g0079 a0027c0040t0002g0100	62	310	0.2000	447	c.-12 others(466): Show c.-12+23266_-12+23267insTGGGGGGCTGACCCCCCCCACCTCCC GGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCAGCCTCCTG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACTCCCCCACCTCCCTCCTGG ACGGGACGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGTGGG GGGCTGACCCCCCCACCTCCCTCCCGGATGGGGTGGCTGGCCAGGCAGGG GGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCGGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCAGAGGG GCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCC CGGACGGGGCGGCTGGCCGGG	NINL	ENSG00000101004.16	transcript	ENST00000278886.11	protein_coding	1/23			chr20	TogoVar
NINL_chr20_25447697_25590531	25562188	G G	GCCCGGCC others(440): Show GCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCAGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCACCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCCGCCAGCCGCCCCGTCCAG GAGGGAGGTGGGGGGGTCAGCCCCCTGCCTGGCCAGCCACCCCATCCGGG AGGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCC TCTGCCCGGCCAGCCGTCCCGTCCAGGAGGGAGGTGGGGGAGTCAGCCCC CCGCCCGGCCAGCCGCCCCGTCCAGGAGGCTGGTTGGGGGGTCAGCCCCC CGCCCGGCCAGCCGCCCCATCCGGGAGGTGGGGGGGGTCAGCCCCCCA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0071 a0002c0002t0005g0071	1	310	0.0032	447	c.-12 others(466): Show c.-12+23266_-12+23267insTGGGGGGCTGACCCCCCCCACCTCCC GGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCAGCCTCCTG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACTCCCCCACCTCCCTCCTGG ACGGGACGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGTGGG GGGCTGACCCCCCCACCTCCCTCCCGGATGGGGTGGCTGGCCAGGCAGGG GGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCGGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCAGAGGG GCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCC CAGACGGGGCGGCTGGCCGGG	NINL	ENSG00000101004.16	transcript	ENST00000278886.11	protein_coding	1/23			chr20	TogoVar
NME4_chr16_392199_405754	397707	T T	TGTGGGGG others(440): Show TGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGTGTGGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTG TGGGGGGGTGAGGGAGTCGGGGGGTGGGTGTGGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGTGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGA GGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0263 a0001c0002t0001g0263	1	356	0.0028	447	c.91+ others(460): Show c.91+403_91+404insGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGTGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGG TGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGTGTGGGGGGGGTGA GGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NRDE2_chr14_90262860_90336941	90300885	G G	GGGGAGGG others(440): Show GGGGAGGGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGGAGGGGGAGGGGA GGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGGAGGGGGAGGGG TGGGGGAGGGAGAGGGGAAAGGGAGAGGGGAAAGGGAGGGGATGGGGGAG GGAGAAGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGA GGGGGAGGGGAGGGGGAGGGGAAAGGGGGAAGGGAGAAGGGGGAGGGGGA GGGGAAGGGGAGGAAGAGGGGAGGGGAGGAGGAAGGGGGAGGGGGAGGGG GAGGGGAAAGGAGGAGGAAGGGGGAGGGGGAAGGGGAGGGAGGGGAGGAG GGGGAAGGGAGGGGAGGAGGGGGAAGGGAGGGGAGGGGAGGAGGGGGGAG GGAGAGGGGAGGGGAGGAAGAAGGGGAAGGGGGAGGGGAGGGGAGGAA	intron_variant intron_variant	MODIFIER	HG03927.hp1 NA19076.hp2 HG03927.hp1 NA19076.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0019 a0002c0002t0047 a0002c0002t0019 a0002c0002t0047	a0002c0002t0019g0030 a0002c0002t0047g0084 a0002c0002t0019g0030 a0002c0002t0047g0084	2	344	0.0058	447	c.154 others(464): Show c.1545+353_1545+354insTTCCTCCCCTCCCCTCCCCCTTCCCCTT CTTCCTCCCCTCCCCTCTCCCTCCCCCCTCCTCCCCTCCCCTCCCTTCCC CCTCCTCCCCTCCCTTCCCCCTCCTCCCCTCCCTCCCCTTCCCCCTCCCC CTTCCTCCTCCTTTCCCCTCCCCCTCCCCCTCCCCCTTCCTCCTCCCCTC CCCTCTTCCTCCCCTTCCCCTCCCCCTCCCCCTTCTCCCTTCCCCCTTTC CCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTC CCCCTCCCCCTCCCTTCTCCCTCCCCCATCCCCTCCCTTTCCCCTCTCCC TTTCCCCTCTCCCTCCCCCACCCCTCCCCCTCCCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCTCCCCCTCCCCTCCT CCCCTCCTCCCCCCCTCCC	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13			chr14	TogoVar
NXN_chr17_794310_984776	952751	G G	GGGGGGGC others(440): Show GGGGGGGCTGGGGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACG GACGGTCACACTGTGGGGGGGCTGGGGTCAGAGAGACCAAGGTTGGAACC CGGCAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGAGTCAGAGAGA CCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGC TGGAGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCA CACTGTGGGGGGGCTGGGGTCAGACAGACCAAGGTTGGAACCCGGCAGGT ACCACGGACGGTCACACTGTGGGGGGGCTGGGGTCAGAGAGACCAAGGTT GGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGGGTCA GACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0023 a0001c0001t0007g0023	1	242	0.0041	447	c.360 others(466): Show c.360+26567_360+26568insACAGTGTGACCGTCCGTGGTACCTGC CGGGTTCCAACCTTGGTCTGTCTGACCCCAGCCCCCCCACAGTGTGACCG TCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACCCCAGCCCCC CCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTC TGACCCCAGCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCC AACCTTGGTCTGTCTGACTCCAGCCCCCCCACAGTGTGACCGTCCGTGGT ACCTGCCGGGTTCCAACCTTGGTCTCTCTGACTCCAGCCCCCCCACAGTG TGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACCCCA GCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGG TCTCTCTGACCCCAGCCCCCC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
ODF3_chr11_191761_205258	196141	A A	AGGGGGGC others(440): Show AGGGGGGCCTTGGTGAGGGGACCTGGTGAGGGGACATGGTGAGGGGAGCA TGGTGAGGGGAACATGGGTGGGGAGCCTTGGTGAGGGGACCTGGTGAGGG GACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGG ACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGG GGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAG GGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGG GGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGA GGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTG AGGAGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG01891.hp1 HG02572.hp2 others(4): Show HG01192.hp2 HG01891.hp1 HG02572.hp2 HG02717.hp2 HG03139.hp1 HG03225.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	7	388	0.0180	447	c.-91 others(456): Show c.-914_-913insGGGGGGCCTTGGTGAGGGGACCTGGTGAGGGGACAT GGTGAGGGGAGCATGGTGAGGGGAACATGGGTGGGGAGCCTTGGTGAGGG GACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGG GGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGG GACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAG GGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGA GGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGG GGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTG AGGGGACCTGGTGAGGAGGACATGGGGGGGACCTTGGTGAGGGGACCTGG TGAGGGGACAT	ODF3	ENSG00000177947.15	transcript	ENST00000325113.9	protein_coding		619		chr11	TogoVar
PALLD_chr4_168492052_168933441	168738636	G G	GGCCAGGC others(440): Show GGCCAGGCTGGCCTCGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGC CTCCCAAAATGCTGGGATTACAGGTGTGAGCCACCGTGCCCAACCAGTGC TCTCTCTACTTTTCTTTTCTTACTGCTACCACCCTGTTGTAGGCCTGGAC ATCTCACTTCTAAGTGCTCCACAACATCTAAACTGATCTTTCTCCCTTCA GTGTCTCCCCATGTTAATCCTTCTTAAACTCTTTTTTTTTGTTTGTTTGT TTTTTTTGAGACGGAGACTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGC GCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCCCGCCATTCTCC TGCCTCAGCCTCCGGAGTAGCTGGGACTACAGGCGCCCACCACCACGCCC GGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0098 a0001c0001t0020g0098	1	156	0.0064	447	c.196 others(468): Show c.1964+26729_1964+26730insACTCCTGACCTCAGGTGATCCGCC CGCCTCGGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACCGTGCCC AACCAGTGCTCTCTCTACTTTTCTTTTCTTACTGCTACCACCCTGTTGTA GGCCTGGACATCTCACTTCTAAGTGCTCCACAACATCTAAACTGATCTTT CTCCCTTCAGTGTCTCCCCATGTTAATCCTTCTTAAACTCTTTTTTTTTG TTTGTTTGTTTTTTTTGAGACGGAGACTCGCTCTGTCACCCAGGCTGGAG TGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCCCG CCATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGACTACAGGCGCCCACC ACCACGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCAC CATGTTAGCCAGGCTGGCCTCGA	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168738636	G G	GGCCAGGC others(440): Show GGCCAGGCTGGCCTCGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGC CTCCCAAAATGCTGGGATTACAGGTGTGAGCCACCGTGCCCAACCAGTGC TCTCTCTACTTTTCTTTTCTTACTGCTACCACCCTGTTGTAGGCCTGGAC ATCTCACTTCTAAGTGCTCCACAACATCTAAACTGATCTTTCTCCCTTCA GTGTCTCCCCATGTTAATCCTTCTTAAACTCTTTTTTTTTGTTTGTTTGT TTTTTTTGAGACGGAGACTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGC GCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCCCGCCATTCTCC TGCCTCAGCCTCCGGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCC GGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01099.hp2 HG01346.hp1 others(12): Show HG01074.hp1 HG01099.hp2 HG01346.hp1 HG02148.hp1 HG02559.hp2 HG02698.hp2 HG02976.hp2 HG03041.hp2 HG03130.hp2 HG03209.hp2 HG03491.hp2 HG03669.hp1 HG03669.hp2 HG04204.hp1 NA19074.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0002c0003 others(4): Show a0001c0001 a0001c0002 a0002c0003 a0002c0007 a0002c0012 a0003c0005 a0004c0025	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0002t0006 a0002c0003t0005 a0002c0007t0004 a0002c0007t0005 a0002c0007t0014 a0002c0012t0019 a0003c0005t0001 a0003c0005t0005 a0004c0025t0005	a0001c0001t0001g0068 a0001c0001t0002g0089 a0001c0001t0002g0104 others(12): Show a0001c0001t0001g0068 a0001c0001t0002g0089 a0001c0001t0002g0104 a0001c0001t0002g0136 a0001c0001t0008g0061 a0001c0001t0008g0064 a0001c0002t0006g0090 a0002c0003t0005g0109 a0002c0007t0004g0027 a0002c0007t0005g0138 a0002c0007t0014g0030 a0002c0012t0019g0141 a0003c0005t0001g0076 a0003c0005t0005g0126 a0004c0025t0005g0101	15	156	0.0962	447	c.196 others(468): Show c.1964+26729_1964+26730insACTCCTGACCTCAGGTGATCCGCC CGCCTCGGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACCGTGCCC AACCAGTGCTCTCTCTACTTTTCTTTTCTTACTGCTACCACCCTGTTGTA GGCCTGGACATCTCACTTCTAAGTGCTCCACAACATCTAAACTGATCTTT CTCCCTTCAGTGTCTCCCCATGTTAATCCTTCTTAAACTCTTTTTTTTTG TTTGTTTGTTTTTTTTGAGACGGAGACTCGCTCTGTCACCCAGGCTGGAG TGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCCCG CCATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGACTACAGGCGCCCGCC ACCGCGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCAC CATGTTAGCCAGGCTGGCCTCGA	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168738666	G G	GGTGATCC others(440): Show GGTGATCCACCCACCTCGGCCTCCCAAAATGCTGGGATTACAGGTGTGAG CCACCGTGCCCAACCAGTGTTCTCTCTACTTTTCTTTTCTTACTGCTACC ACCCTGTTGTAGGCCTGGACATCTCACTTCTAAGTGCTCCACAACATCTA AACTGATCTTTCTCCCTTCAGTGTCTCCCCATGTTAATCCTTCTTAAACT CTTTTTTTTTTTTTTTTTTTGTTTTTTTTGAGACGGAGTCTCGCTCTGTC ACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGACT ACAGGCGCCCGCCACCGCGCCCGTCTAATTTTTTTTGTATTTTTAGTAGA GATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02602.hp2 HG03225.hp2 HG01167.hp2 HG02602.hp2 HG03225.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0003 a0006c0020 a0001c0001 a0002c0003 a0006c0020	a0001c0001t0003 a0002c0003t0001 a0006c0020t0001 a0001c0001t0003 a0002c0003t0001 a0006c0020t0001	a0001c0001t0003g0016 a0002c0003t0001g0036 a0006c0020t0001g0024 a0001c0001t0003g0016 a0002c0003t0001g0036 a0006c0020t0001g0024	3	156	0.0192	447	c.196 others(468): Show c.1964+26750_1964+26751insACCCACCTCGGCCTCCCAAAATGC TGGGATTACAGGTGTGAGCCACCGTGCCCAACCAGTGTTCTCTCTACTTT TCTTTTCTTACTGCTACCACCCTGTTGTAGGCCTGGACATCTCACTTCTA AGTGCTCCACAACATCTAAACTGATCTTTCTCCCTTCAGTGTCTCCCCAT GTTAATCCTTCTTAAACTCTTTTTTTTTTTTTTTTTTTGTTTTTTTTGAG ACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCC TCCGGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGTCTAATTTT TTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTC TCGATCTCCTGACCTCGTGATCC	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168738666	G G	GGTGATCC others(440): Show GGTGATCCACCCACCTCGGCCTCCCCAAATGCTGGGATTACAGGTGTGAG CCACCGTGCCCAACCAGTGTTCTCTCTACTTTTCTTTTCTTACTGCTACC ACCCTGTTGTAGGCCTGGACATCTCACTTCTAAGTGCTCCACAACATCTA AACTGATCTTTCTCCCTTCAGTGTCTCCCCATGTTAATCCTTCTTAAACT CTTTTTTTTTTTGTTTTTTTGTTTTTTTTGAGACGGAGTCTCGCTCTGTC ACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGACT ACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTC	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0142 a0002c0003t0002g0142	1	156	0.0064	447	c.196 others(468): Show c.1964+26750_1964+26751insACCCACCTCGGCCTCCCCAAATGC TGGGATTACAGGTGTGAGCCACCGTGCCCAACCAGTGTTCTCTCTACTTT TCTTTTCTTACTGCTACCACCCTGTTGTAGGCCTGGACATCTCACTTCTA AGTGCTCCACAACATCTAAACTGATCTTTCTCCCTTCAGTGTCTCCCCAT GTTAATCCTTCTTAAACTCTTTTTTTTTTTGTTTTTTTGTTTTTTTTGAG ACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCC TCCGGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTC TCGATCTCCTGACCTCGTGATCC	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PAM16_chr16_4335251_4356321	4344665	A A	AGGGGATT others(440): Show AGGGGATTGTGTGAGGGGGGGGGGGTTCCGTGAGAGGAGGGGGTTCCGTG AGAGGAGGGGATTGTGTGAGGGGGGGGGTTCCGTGAGAGGAGGGGGTTCC GTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGATTGTGTGAGAGAAGGGGA CTGTGTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGGTTCTGTGAGAGGAG GGGACTGTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCTGTGAGA GGAGGGGGTTCTGTGAGGAGGGGGTTCCGTGAGAGGAGGGGATTGTGTGA GAGGAGGGGGTTCTGTGAGAGAAGGGGACTGTGTGAGAGGAGGGGGTTCC GTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGG TTCTGTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGATTGTGTGAGGGG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0189 a0002c0002t0001g0189	1	367	0.0027	447	c.4-1 others(460): Show c.4-1375_4-1374insCCCCTCACACAATCCCCTCCTCTCACGGAACC CCCTCCTCTCACAGAACCCCCTCCTCTCACAGAACCCCCTCCTCTCACGG AACCCCCTCCTCTCACGGAACCCCCTCCTCTCACACAGTCCCCTTCTCTC ACAGAACCCCCTCCTCTCACACAATCCCCTCCTCTCACGGAACCCCCTCC TCACAGAACCCCCTCCTCTCACAGAACCCCCTCCTCTCACAGAACCCCCT CCTCTCACACAGTCCCCTCCTCTCACAGAACCCCCTCCTCTCACGGAACC CCCTCCTCTCACACAGTCCCCTTCTCTCACACAATCCCCTCCTCTCACAG AACCCCCTCCTCTCACGGAACCCCCTCCTCTCACGGAACCCCCCCCCTCA CACAATCCCCTCCTCTCACGGAACCCCCTCCTCTCACGGAACCCCCCCCC CCTCACACAATCCCC	PAM16	ENSG00000217930.8	transcript	ENST00000318059.8	protein_coding	1/4			chr16	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(440): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAA TACATATATAACATATATGTATTACATATATGTAATACATATATAACATA TATGTATTACATATATGTAATACATATATAACATATATGTATTACATATA TGTAATACATATATAACATGTATTACATATATGTAATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0001 a0001c0001t0006g0001	1	400	0.0025	447	c.70 others(458): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTAATACATATATAACATATATGTATTACATATATGTAA TACATATATAACATATATGTATTACATATATGTAATACATATATAACATA TATGTATTACATATATGTAATACATATATAACATGTATTACATATATGTA ATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(440): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTAATACATATATAACATA TATGTATTACATATATGTAATACATATATAACATATATGTATTACATATA TGTAATACATATATAACATGTATTACATATATGTAATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp1 NA18954.hp2 HG02155.hp1 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0001 a0001c0001t0001g0005	2	400	0.0050	447	c.70 others(458): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAA TACATATATAACATATATGTATTACATATATGTAATACATATATAACATA TATGTATTACATATATGTAATACATATATAACATGTATTACATATATGTA ATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(440): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTAATACATATATAACATATATGTATTACATATA TGTAATACATATATAACATGTATTACATATATGTAATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	400	0.0025	447	c.70 others(458): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTAATACATATATAACATA TATGTATTACATATATGTAATACATATATAACATGTATTACATATATGTA ATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(440): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTAATACATATATAACATGTATTACATATATGTAATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 NA18989.hp2 HG03831.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0005 a0001c0001t0006	a0001c0001t0005g0003 a0001c0001t0006g0001 a0001c0001t0005g0003 a0001c0001t0006g0001	2	400	0.0050	447	c.70 others(458): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTAATACATATATAACATGTATTACATATATGTA ATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721649	G G	GTATTACA others(440): Show GTATTACATATATGTATTACATATATAACATATATGTATTACATATATGT ATTACATATATAACATATATGTATTACATATATGTATTACATATATAACA TATATGTATTACATATATGTATTACATATATAACATATATGTATTACATA TATGTATTACATATATAACATATATGTATTACATATATGTATTACATATA TAACATATATGTATTACATATATGTATTACATATATAACATATATGTATT ACATATATGTATTACATATATAACATATATGTATTACATATATGTATTAC ATATATAACATATATGTATTACATATATGTATTACATATATAACATATAT GTATTACATATATGTATTACATATATAACATATATGTATTACATATATGT AATACATATATAACATGTATTACATATATGTAATACATATATAACATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0002 a0001c0001t0041g0002	1	400	0.0025	447	c.70 others(458): Show c.7087_*7088insTATTACATATATGTATTACATATATAACATATAT GTATTACATATATGTATTACATATATAACATATATGTATTACATATATGT ATTACATATATAACATATATGTATTACATATATGTATTACATATATAACA TATATGTATTACATATATGTATTACATATATAACATATATGTATTACATA TATGTATTACATATATAACATATATGTATTACATATATGTATTACATATA TAACATATATGTATTACATATATGTATTACATATATAACATATATGTATT ACATATATGTATTACATATATAACATATATGTATTACATATATGTATTAC ATATATAACATATATGTATTACATATATGTATTACATATATAACATATAT GTATTACATATATGTAATACATATATAACATGTATTACATATATGTAATA CATATATAACATA	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3169		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721656	A A	ATATATGT others(440): Show ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTAATACATATATAACATATATGTATTACATATA TGTAATACATATATAACATATATGTATTACATATATGTAATACATATATA ACATATATGTATTACATATATGTAATACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATTACGTATATGTAATACACATATAACATATATTACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	400	0.0025	447	c.70 others(458): Show c.7094_*7095insTATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTAATACATATATAACATA TATGTATTACATATATGTAATACATATATAACATATATGTATTACATATA TGTAATACATATATAACATATATGTATTACATATATGTAATACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATTACGTATATGTAATACACATAT AACATATATTACG	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3176		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721656	A A	ATATATGT others(440): Show ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTAATACATATATA ACATATATGTATTACATATATGTAATACATATATAACATATATGTATTAC ATATATGTAATACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATTACGTATATGTAATACACATATAACATATATTACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	400	0.0025	447	c.70 others(458): Show c.7094_*7095insTATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTAATACATATATAACATATATGTATTACATATATGTAATACATATATA ACATATATGTATTACATATATGTAATACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATTACGTATATGTAATACACATAT AACATATATTACG	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3176		chr20	TogoVar
PCDH11Y_chrY_4995296_5747224	5525214	T T	TGGGAGGA others(440): Show TGGGAGGAGGAGGAGTGGGAGGAGGAGGGGGGAGGAGGCGGAGGGGGAGG AGGAGGGGGAGGAGGAGGGGGAGGGGGAGGAGGAGGGGGAGGGGAGGAGG AGGGGGCAGGAGGAGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGG AGGAGGGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGGGGGAGG AGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGCGGAGGGG GAGGAGGAGGGGGAGGAGGAGGGGGAGGGGGAGGAGGACGGGGAGGAGGA GGGGGAGGGGGAGGAGGACGGGGAGGAGGAGGGGGAGGGGGAGGAGGAGG GGGAGGAGGAGGAGTGGGGAGGAGGAGGGGGCAGGAGGAGGAGTGGGAGG TGGAGGGGGTAGGAGGAGGAGGGGGGAGGAGGGGGGAGGAGGAGGAGG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	115	0.0087	447	c.305 others(468): Show c.3052+23989_3052+23990insGAGGAGGCGGAGGGGGAGGAGGAG GGGGAGGAGGAGGGGGAGGGGGAGGAGGAGGGGGAGGGGAGGAGGAGGGG GCAGGAGGAGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGGAGGAG GGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGGGGGAGGAGGAG GAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGCGGAGGGGGAGGA GGAGGGGGAGGAGGAGGGGGAGGGGGAGGAGGACGGGGAGGAGGAGGGGG AGGGGGAGGAGGACGGGGAGGAGGAGGGGGAGGGGGAGGAGGAGGGGGAG GAGGAGGAGTGGGGAGGAGGAGGGGGCAGGAGGAGGAGTGGGAGGTGGAG GGGGTAGGAGGAGGAGGGGGGAGGAGGGGGGAGGAGGAGGAGGGGGAGGA GGAGGAGTGGGAGGAGGAGGGGG	PCDH11Y	ENSG00000099715.15	transcript	ENST00000698851.1	protein_coding	4/5		INFO_REALIGN_3_PRIME	chrY	TogoVar
PIGQ_chr16_564968_589109	571109	C C	CTGGCTAG others(440): Show CTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGT CTGGCTAGCCTGTGTGTGTGTGTGTCTGTCTGGCTAGCCTGGTGCCCGTG TGTGTGTGTATGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGC TAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGCT CCCGTGGCTAGCCTGGTGCCTGTGTGTGTGTGTGTGTATGTGTCTGGCTA GCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGGGGGGGGG GGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGC GTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGG CGCCCGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCCG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01243.hp1 HG01496.hp1 others(3): Show HG00673.hp1 HG01243.hp1 HG01496.hp1 HG01978.hp2 HG02055.hp1 HG02559.hp1	a0002 a0002	a0002c0001 a0002c0010 a0002c0001 a0002c0010	a0002c0001t0001 a0002c0010t0001 a0002c0001t0001 a0002c0010t0001	a0002c0001t0001g0092 a0002c0001t0001g0099 a0002c0001t0001g0112 others(3): Show a0002c0001t0001g0092 a0002c0001t0001g0099 a0002c0001t0001g0112 a0002c0001t0001g0113 a0002c0001t0001g0115 a0002c0010t0001g0108	6	408	0.0147	447	c.-10 others(464): Show c.-10+1024_-10+1025insTGTGTGTGTGTGTCTGGCTAGCCTGTGT GTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGTCTGGCTAGCCT GGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTCTGGCTAGCCTGG CGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGC TAGCCTGGCTCCCGTGGCTAGCCTGGTGCCTGTGTGTGTGTGTGTGTATG TGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTG TGGGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTG TCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTG GCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCT GGCACCCGTGGCTAGCCTG	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PIGQ_chr16_564968_589109	571109	C C	CTGGCTAG others(440): Show CTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGT CTGGCTAGCCTGTGTGTGTGTGTGTCTGTCTGGCTAGCCTGGTGCCCGTG TGTGTGTGTATGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGC TAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGCT CCCGTGGCTAGCCTGGTGCCTGTGTGTGTGTGTGTGTATGTGTCTGGCTA GCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGTGGGGGGG GGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGC GTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGG CGCCCGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCCG	intron_variant intron_variant	MODIFIER	HG02717.hp2 NA18987.hp2 NA19079.hp2 HG02717.hp2 NA18987.hp2 NA19079.hp2	a0002 a0002	a0002c0001 a0002c0007 a0002c0001 a0002c0007	a0002c0001t0005 a0002c0007t0001 a0002c0001t0005 a0002c0007t0001	a0002c0001t0005g0102 a0002c0001t0005g0116 a0002c0007t0001g0101 a0002c0001t0005g0102 a0002c0001t0005g0116 a0002c0007t0001g0101	3	408	0.0074	447	c.-10 others(464): Show c.-10+1024_-10+1025insTGTGTGTGTGTGTCTGGCTAGCCTGTGT GTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGTCTGGCTAGCCT GGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTCTGGCTAGCCTGG CGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGC TAGCCTGGCTCCCGTGGCTAGCCTGGTGCCTGTGTGTGTGTGTGTGTATG TGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTG TGTGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTG TCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTG GCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCT GGCACCCGTGGCTAGCCTG	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PKNOX2_chr11_125159751_125438389	125262894	T T	TCTTTTTT others(440): Show TCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAA ATTTAAAACTTTTTTTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTA GGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCA TGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTC CCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTG TGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCT ATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACT GAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACT CATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0143 a0001c0001t0010g0143	1	222	0.0045	447	c.-13 others(468): Show c.-130+27781_-130+27782insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTAAATTTAAAACTTTTTTTTTTTTTTTTTT TTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTA GTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTG TCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCG ACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTG ATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTT TTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCA TGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATT CCATGGTGTATATGTGCCACACT	PKNOX2	ENSG00000165495.16	transcript	ENST00000298282.14	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PRKCA_chr17_66297613_66815743	66799112	A A	ATGGTGGT others(440): Show ATGGTGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGAT GGTAATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTG GTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGT GGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGG TAATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATG GTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGACGGT GGTGACGGTGGTGACGGTGGTGGTGGTGGTGACGGTGGTGGTGGTGGTGA CGGTGGTGGTGACGGTGGTGGTGGTGACGGTGGTGGTGGTGGTGGTGG	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0124 a0001c0001t0027g0124	1	178	0.0056	447	c.185 others(466): Show c.1855-4761_1855-4760insTGGTGGTGGTGGTGATGGTGATGGTG GTGGTGGTGGTGGTGGTGGTGATGGTAATGGTGGTGGTGGTGGTGGTGGT GGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGA TGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTG GTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGT GGTGGTGGTGGTGGTGGTGATGGTAATGGTGGTGGTGGTGGTGATGGTGG TGGTGGTGGTGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGTGGTG GTGGTGGTGGTGGTGGTGACGGTGGTGACGGTGGTGACGGTGGTGGTGGT GGTGACGGTGGTGGTGGTGGTGACGGTGGTGGTGACGGTGGTGGTGGTGA CGGTGGTGGTGGTGGTGGTGG	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16			chr17	TogoVar
PRKCZ_chr1_2045411_2190395	2123797	G G	GTCATGGT others(440): Show GTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGT TAGGGTCGTGGTGGTTAGGTTCATGGTGGTAGTTAGGATCACGGCTGTAG TTAGGGTCATGGCTGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTG GTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCAC AGCGATAGTTAGCATCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGG TCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTTAGG GTCATGGTGGTAGTTAGGATCACGGCTGTAGTTAGGGTCATGGTGGTAGT TAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTA TAGTTGGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	286	0.0035	447	c.335 others(466): Show c.335-11464_335-11463insCATGGTGGTAGTTAGGGTCACGGCTG TAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTTAGGTTCATGGTG GTAGTTAGGATCACGGCTGTAGTTAGGGTCATGGCTGTAGTTAGGATCAT GGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGG TCATGGTGGTAGTTAGGGTCACAGCGATAGTTAGCATCATGGTGGTAGTT AGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGT AGTTAGGGTCGTGGTGGTTAGGGTCATGGTGGTAGTTAGGATCACGGCTG TAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATG GTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGAT CATGGCTGTAGTTAGGGTCAT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRPF31_chr19_54110754_54136713	54133778	T T	TCTCCACC others(440): Show TCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCA CCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCCCTCTGTCCC TCCCTCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTC TCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTC CCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTC TCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCC CCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCC TCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCAC CTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	227	0.0044	447	c.23 others(458): Show c.2346_*2347insCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCA CCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTC CCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCCCTCCCTCTC CACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTC CCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTC TCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCC TCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTC TCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTC CCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCC TCTCTCTCCCTCC	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2066		chr19	TogoVar
RNF213_chr17_80255852_80403794	80274638	T T	TGAGTGGG others(440): Show TGAGTGGGGTGAGTGTGGGGAGTGAGTGGGGTGAGTGTGGGGTGAGTGGG GTGAGTGGGGGGTGAGTGGGGTGTCTGTGGGGGGTGAGTGGGGTGAGTGT GGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGGGGTGAG TGGGGTGAATGTGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGA TGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGCGGGGTGAGTGTGGGGGT GAGTGGGGTGAGTGTGGGGAGTGAGTGGGGTGAGTGTGGGGTGATGGGGT GAGTGTGGGGGGTGAGGGGGGTGAGTGGGGTGTCTGTGGGGGGTGAGTGG GGTGAGTGTGGGGGGTGAGTGGGGTGAGTGGGGGGTGAGTGGGGTGAGTG GGGGGTGAGTGGGGTGTCTGGGGGGTGAGTGGGGTGAGTGGGGGGTGA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03041.hp2 NA19043.hp1 HG02895.hp2 HG03041.hp2 NA19043.hp1	a0005 a0014 a0090 a0005 a0014 a0090	a0005c0105 a0014c0020 a0090c0114 a0005c0105 a0014c0020 a0090c0114	a0005c0105t0021 a0014c0020t0014 a0090c0114t0066 a0005c0105t0021 a0014c0020t0014 a0090c0114t0066	a0005c0105t0021g0270 a0014c0020t0014g0257 a0090c0114t0066g0258 a0005c0105t0021g0270 a0014c0020t0014g0257 a0090c0114t0066g0258	3	292	0.0103	447	c.261 others(464): Show c.261+1235_261+1236insAGTGGGGTGAGTGTGGGGAGTGAGTGGG GTGAGTGTGGGGTGAGTGGGGTGAGTGGGGGGTGAGTGGGGTGTCTGTGG GGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTG AGTGGGGTGAGTGGGGTGAGTGGGGTGAATGTGGGGTGAGTGGGGTGAGT GTGGGGGGTGAGTGGGGTGATGGGGGTGAGTGGGGTGAGTGTGGGGGGTG AGCGGGGTGAGTGTGGGGGTGAGTGGGGTGAGTGTGGGGAGTGAGTGGGG TGAGTGTGGGGTGATGGGGTGAGTGTGGGGGGTGAGGGGGGTGAGTGGGG TGTCTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTG GGGGGTGAGTGGGGTGAGTGGGGGGTGAGTGGGGTGTCTGGGGGGTGAGT GGGGTGAGTGGGGGGTGAG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	3/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPH3AL_chr17_207389_357807	242419	C C	CTACCTTC others(440): Show CTACCTTCCTCTATTGACTACCTTCCTCTATTGATTACCTTCCTCTATTG ATTACCCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCTCTAT TGACTACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCTCTA TTGACTACCTTCCTCTATTGACTACCTTCCTCTATTGATTACCTTCCTCT ATTGATTACCCTTCCTCTATTGATTACCTTCCTCTATTGACTACCTTCCT CTATTGACTACCTTCCTCTATTGATTACCTTCCTCTATTGACTACCTTCC TCTATTGACTACCTTCCTCTATTGATTACCTTCCTCTATTGATTACCCTT CCTCTATTGATTACCTTCCTCTATTGATTACCCTTCCTCTATTGATTACC TTCCTCTATTGATTACCCTTCCTCTATTGACTACCTTCCTCTATTGAT	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0029	1	133	0.0075	447	c.613 others(464): Show c.613+4691_613+4692insATCAATAGAGGAAGGTAGTCAATAGAGG AAGGGTAATCAATAGAGGAAGGTAATCAATAGAGGAAGGGTAATCAATAG AGGAAGGTAATCAATAGAGGAAGGGTAATCAATAGAGGAAGGTAATCAAT AGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAATCAA TAGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAATCA ATAGAGGAAGGGTAATCAATAGAGGAAGGTAATCAATAGAGGAAGGTAGT CAATAGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAG TCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGTA GTCAATAGAGGAAGGGTAATCAATAGAGGAAGGTAATCAATAGAGGAAGG TAGTCAATAGAGGAAGGTA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RTEL1_chr20_63653312_63701245	63693729	A A	ACCACCAC others(440): Show ACCACCACCACCACCACCTCCACCACCACCTCCACCACCTCCACCACCAC CACCTCCACCTCCACCACCACCACCACCTCCACCTCCACCACCTCCACCA CCACCACCTCCACCACCACCTCCACCACCACCACCTCCACCTCCACCACC ACCACCTCCACCTCCACCACCACCACCACCTCCACCACCACCTCCACCTC CACCACCACCTCCACCACCACCTCCACCACCTCCACCACCTCCACCACCA CCACCTCCACCTCCACCACCTCCACCTCCACCTCCACCACCACCTCCACC ACCTCCACCACCACCACCACCACCTCCACCTCCACCTCCACCTCCACCTC CACCACCTCCACCTCCACCACCTCCACCACCTCCACCACCACCTCCACCA CCTCCACCACCACCTCCACCACCACCTCCACCACCACCTCCTCCACCT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0056 a0001c0002t0001g0056	1	60	0.0167	447	c.299 others(464): Show c.2992+448_2992+449insACCACCACCACCACCTCCACCACCACCT CCACCACCTCCACCACCACCACCTCCACCTCCACCACCACCACCACCTCC ACCTCCACCACCTCCACCACCACCACCTCCACCACCACCTCCACCACCAC CACCTCCACCTCCACCACCACCACCTCCACCTCCACCACCACCACCACCT CCACCACCACCTCCACCTCCACCACCACCTCCACCACCACCTCCACCACC TCCACCACCTCCACCACCACCACCTCCACCTCCACCACCTCCACCTCCAC CTCCACCACCACCTCCACCACCTCCACCACCACCACCACCACCTCCACCT CCACCTCCACCTCCACCTCCACCACCTCCACCTCCACCACCTCCACCACC TCCACCACCACCTCCACCACCTCCACCACCACCTCCACCACCACCTCCAC CACCACCTCCTCCACCTCC	RTEL1	ENSG00000258366.12	transcript	ENST00000360203.11	protein_coding	30/34		INFO_REALIGN_3_PRIME	chr20	TogoVar
RUNDC3B_chr7_87623398_87837296	87626684	T T	TTGTCATA others(440): Show TTGTCATATATGTGTCATATATATTGTCATATATATGTGTCATATATATT GTCATATATATGTGTCATATATATTGTCATATATATGTGTCATATATATT GTCATATATATGTGTCATATATATTGTCATATATATGTGTCATATATATT GTCATATATATGTGTCATATATATTGTCATATATATGTGTCATATATATT GTCATATATATGTGTCATATATATTGTCATATATATGTGTCATATATATT GTCATATATATGTGTCATATATATTGTCATATATATGTGTCATATATATT GTCATATATATGTGTCATATATATTGTCATATATATGTGTCATATATATT GTCATATATATGTGTCATATATATTGTCATATATATGTGTCATATATATT GTCATATATATGTGTCATATATATTGTCATATATATGTGTCATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0015 a0001c0001t0060g0015	1	202	0.0050	447	c.-21 others(458): Show c.-2140_-2139insTGTCATATATGTGTCATATATATTGTCATATATA TGTGTCATATATATTGTCATATATATGTGTCATATATATTGTCATATATA TGTGTCATATATATTGTCATATATATGTGTCATATATATTGTCATATATA TGTGTCATATATATTGTCATATATATGTGTCATATATATTGTCATATATA TGTGTCATATATATTGTCATATATATGTGTCATATATATTGTCATATATA TGTGTCATATATATTGTCATATATATGTGTCATATATATTGTCATATATA TGTGTCATATATATTGTCATATATATGTGTCATATATATTGTCATATATA TGTGTCATATATATTGTCATATATATGTGTCATATATATTGTCATATATA TGTGTCATATATATTGTCATATATATGTGTCATATATATTGTCATATATA TGTGTCATATATA	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		1713		chr7	TogoVar
SCGB1C1_chr11_188078_199575	196141	A A	AGGGGGGC others(440): Show AGGGGGGCCTTGGTGAGGGGACCTGGTGAGGGGACATGGTGAGGGGAGCA TGGTGAGGGGAACATGGGTGGGGAGCCTTGGTGAGGGGACCTGGTGAGGG GACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGG ACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGG GGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAG GGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGG GGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGA GGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTG AGGAGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG01891.hp1 HG02572.hp1 others(4): Show HG01192.hp1 HG01891.hp1 HG02572.hp1 HG02717.hp2 HG03139.hp1 HG03225.hp2 HG03516.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0001 a0001c0004t0001g0006 a0001c0004t0001g0019 a0001c0004t0001g0001 a0001c0004t0001g0006 a0001c0004t0001g0019	7	354	0.0198	447	c.16 others(458): Show c.1691_*1692insGGGGGGCCTTGGTGAGGGGACCTGGTGAGGGGAC ATGGTGAGGGGAGCATGGTGAGGGGAACATGGGTGGGGAGCCTTGGTGAG GGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGA GGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGG GGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTG AGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGT GAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGG GGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGG TGAGGGGACCTGGTGAGGAGGACATGGGGGGGACCTTGGTGAGGGGACCT GGTGAGGGGACAT	SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding		1567		chr11	TogoVar
SDHA_chr5_213320_262082	260234	C C	CCCGGCAG others(440): Show CCCGGCAGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCG TGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCG CCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTG AGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGACAG AGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCT CCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCA TTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGC CTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGGCAGAGCATTAC CGTGTGAGCTCCGCCTCCCATCAGAGCATTACCGTGTGAGCTCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0141 a0001c0002t0001g0141	1	266	0.0038	447	c.38 others(458): Show c.3814_*3815insCCGGCAGAGCATTACCGTGTGAGCTCCGCCTCCC GCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGT GAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCA GAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGC TCCGCCTCCCGACAGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGC ATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCG CCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTA CCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTC CCGGCAGAGCATTACCGTGTGAGCTCCGCCTCCCATCAGAGCATTACCGT GTGAGCTCCGCCT	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		3153		chr5	TogoVar
SGSM2_chr17_2332501_2386054	2355830	G G	GGTTGGGG others(440): Show GGTTGGGGGCAGGGGCCCCATATCTTAGAATGGTGGAATCGGGGTGTAAG GGTTGGGGGCAGGGGCCCCATATCTTAGAATGGTGGAATCGGGGTGTAAG GGTTGGGGGCAGGGGCCCCATATCTTAGAATGGTGGAATCGGGGTGTAAG GGTTGGGGGAAGGGGCCCCATATCTTAGAATGGTGGAATCGGGGTGTAAG AGTTGGGGGCAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAG GGTTGGGGCAGGGGCCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGA GTTGGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGG GTTGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGG TTGGGGCAGGGGCCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00558.hp1 HG01099.hp2 others(45): Show HG00099.hp1 HG00558.hp1 HG01099.hp2 HG02056.hp1 HG02083.hp1 HG02132.hp1 HG02258.hp2 HG02280.hp1 HG02717.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG02976.hp2 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03579.hp1 HG03710.hp1 HG03942.hp1 HG04204.hp1 NA18522.hp1 NA18906.hp2 NA18942.hp2 NA18944.hp1 NA18946.hp2 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18961.hp1 NA18973.hp2 NA18979.hp2 NA18981.hp1 NA18990.hp2 NA18992.hp1 NA19003.hp2 NA19004.hp2 NA19010.hp2 NA19011.hp1 NA19065.hp2 NA19067.hp1 NA19077.hp1 NA19091.hp1 NA19240.hp2 NA20129.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0005 others(2): Show a0001 a0004 a0005 a0009 a0017	a0001c0001 a0001c0003 a0001c0005 others(5): Show a0001c0001 a0001c0003 a0001c0005 a0004c0010 a0004c0011 a0005c0009 a0009c0021 a0017c0035	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0003t0001 a0001c0003t0002 a0001c0003t0016 a0001c0003t0019 a0001c0005t0002 a0004c0010t0001 a0004c0011t0001 a0005c0009t0002 a0009c0021t0001 a0017c0035t0001	a0001c0001t0001g0081 a0001c0001t0001g0122 a0001c0001t0001g0332 others(43): Show a0001c0001t0001g0081 a0001c0001t0001g0122 a0001c0001t0001g0332 a0001c0001t0001g0349 a0001c0001t0001g0351 a0001c0001t0002g0382 a0001c0001t0009g0355 a0001c0003t0001g0054 a0001c0003t0001g0194 a0001c0003t0001g0225 a0001c0003t0001g0258 a0001c0003t0001g0308 a0001c0003t0001g0325 a0001c0003t0001g0338 a0001c0003t0001g0339 a0001c0003t0001g0340 a0001c0003t0001g0353 a0001c0003t0001g0356 a0001c0003t0001g0360 a0001c0003t0001g0361 a0001c0003t0001g0362 a0001c0003t0001g0373 a0001c0003t0001g0374 a0001c0003t0001g0375 a0001c0003t0001g0379 a0001c0003t0001g0381 a0001c0003t0001g0386 a0001c0003t0001g0387 a0001c0003t0001g0393 a0001c0003t0002g0012 a0001c0003t0002g0273 a0001c0003t0002g0274 a0001c0003t0002g0380 a0001c0003t0016g0266 a0001c0003t0019g0352 a0001c0005t0002g0013 a0001c0005t0002g0272 a0001c0005t0002g0275 a0004c0010t0001g0350 a0004c0011t0001g0155 a0004c0011t0001g0385 a0005c0009t0002g0378 a0005c0009t0002g0383 a0005c0009t0002g0384 a0009c0021t0001g0174 a0017c0035t0001g0301	48	422	0.1137	447	c.134 others(464): Show c.134-5799_134-5798insCAGGGGCCCCATATCTTAGAATGGTGGA ATCGGGGTGTAAGGGTTGGGGGCAGGGGCCCCATATCTTAGAATGGTGGA ATCGGGGTGTAAGGGTTGGGGGCAGGGGCCCCATATCTTAGAATGGTGGA ATCGGGGTGTAAGGGTTGGGGGAAGGGGCCCCATATCTTAGAATGGTGGA ATCGGGGTGTAAGAGTTGGGGGCAGGGACCCCATATCTTAGAATGGTGGA ATCGGGGTGTAAGGGTTGGGGCAGGGGCCCCATATCTTAGAATGGTGGAA TCGGGGTGTAAGAGTTGGGGGAAGGGACCCCATATCTTAGAATGGTGGAA TCGGGGTGTAAGGGTTGGGGAAGGGACCCCATATCTTAGAATGGTGGAAT CGGGGTGTAAGGGTTGGGGCAGGGGCCCCATATCTTAGAATGGTGGAATC GGGGTGTAAGAGTTGGGGG	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SGSM2_chr17_2332501_2386054	2355830	G G	GGTTGGGG others(440): Show GGTTGGGGGCAGGGGCCCCATATCTTAGAATGGTGGAATCGGGGTGTAAG GGTTGGGGGCAGGGGCCCCATATCTTAGAATGGTGGAATCGGGGTGTAAG GGTTGGGGGCAGGGGCCCCATATCTTAGAATGGTGGAATCGGGGTGTAAG GGTTGGGGGAAGGGGCCCCATATCTTAGAATGGTGGAATCGGGGTGTAAG AGTTGGGGGCAGGGGCCCCATATCTTAGAATGGTGGAATCGGGGTGTAAG GGTTGGGGCAGGGGCCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGA GTTGGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGG GTTGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGG TTGGGGCAGGGGCCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03139.hp2 HG02559.hp2 HG03139.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0001 a0002c0012t0001	a0002c0012t0001g0129 a0002c0012t0001g0372 a0002c0012t0001g0129 a0002c0012t0001g0372	2	422	0.0047	447	c.134 others(464): Show c.134-5799_134-5798insCAGGGGCCCCATATCTTAGAATGGTGGA ATCGGGGTGTAAGGGTTGGGGGCAGGGGCCCCATATCTTAGAATGGTGGA ATCGGGGTGTAAGGGTTGGGGGCAGGGGCCCCATATCTTAGAATGGTGGA ATCGGGGTGTAAGGGTTGGGGGAAGGGGCCCCATATCTTAGAATGGTGGA ATCGGGGTGTAAGAGTTGGGGGCAGGGGCCCCATATCTTAGAATGGTGGA ATCGGGGTGTAAGGGTTGGGGCAGGGGCCCCATATCTTAGAATGGTGGAA TCGGGGTGTAAGAGTTGGGGGAAGGGACCCCATATCTTAGAATGGTGGAA TCGGGGTGTAAGGGTTGGGGAAGGGACCCCATATCTTAGAATGGTGGAAT CGGGGTGTAAGGGTTGGGGCAGGGGCCCCATATCTTAGAATGGTGGAATC GGGGTGTAAGAGTTGGGGG	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SGSM2_chr17_2332501_2386054	2355830	G G	GGTTGGGG others(440): Show GGTTGGGGGCAGGGGCCCCATATCTTAGAATGGTGGAATCGGGGTGTAAG GGTTGGGGGCAGGGGCCCCATATCTTAGAATGGTGGAATCGGGGTGTAAG GGTTGGGGGCAGGGGCCCCATATCTTAGAATGGTGGAATCGGGGTGTAAG GGTTGGGGGCAGGGGCCCCATATCTTAGAATGGTGGAATCGGGGTGTAAG AGTTGGGGGCAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAG GGTTGGGGCAGGGGCCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGA GTTGGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGG GTTGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGG TTGGGGCAGGGGCCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0294 a0001c0003t0001g0294	1	422	0.0024	447	c.134 others(464): Show c.134-5799_134-5798insCAGGGGCCCCATATCTTAGAATGGTGGA ATCGGGGTGTAAGGGTTGGGGGCAGGGGCCCCATATCTTAGAATGGTGGA ATCGGGGTGTAAGGGTTGGGGGCAGGGGCCCCATATCTTAGAATGGTGGA ATCGGGGTGTAAGGGTTGGGGGCAGGGGCCCCATATCTTAGAATGGTGGA ATCGGGGTGTAAGAGTTGGGGGCAGGGACCCCATATCTTAGAATGGTGGA ATCGGGGTGTAAGGGTTGGGGCAGGGGCCCCATATCTTAGAATGGTGGAA TCGGGGTGTAAGAGTTGGGGGAAGGGACCCCATATCTTAGAATGGTGGAA TCGGGGTGTAAGGGTTGGGGAAGGGACCCCATATCTTAGAATGGTGGAAT CGGGGTGTAAGGGTTGGGGCAGGGGCCCCATATCTTAGAATGGTGGAATC GGGGTGTAAGAGTTGGGGG	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SLC66A2_chr18_79897420_79956653	79921459	G G	GGAACCGA others(440): Show GGAACCGAGTGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGGGA GAGGTCAGGGTCAGTGGGGAGAGACGGAACCGAGGGAGAGGTCAAGGTCA GTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGAC GGAACCGAGTGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGGGA GAGGTCAGGGTCAGTGGGGAGAGACGGAACCGAGGGAGAGGTCAGGGTCA GTGAGGAGAGACGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACA GGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACGGAACCGAGGGAG AGGTCAAGGTCAGTGAGGAGAGACGGAACCGAGGGAGAGGTCAGGGTCAG TGAGGAGAGACGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGAC	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	352	0.0028	447	c.392 others(464): Show c.392-2060_392-2059insGTCTCTCCTCACTGACCTTGACCTCTCC CTCGGTTCCGTCTCTCCTCACTGACCCTGACCTCTCCCTCGGTTCCGTCT CTCCTCACTGACCTTGACCTCTCCCTCGGTTCCGTCTCTCCTCACTGACC TTGACCTCTCCCTCGGTTCCTGTCTCTCCTCACTGACCTTGACCTCTCCC TCGGTTCCGTCTCTCCTCACTGACCCTGACCTCTCCCTCGGTTCCGTCTC TCCCCACTGACCCTGACCTCTCCCTCGGTTCCTGTCTCTCCTCACTGACC TTGACCTCTCACTCGGTTCCGTCTCTCCTCACTGACCTTGACCTCTCCCT CGGTTCCTGTCTCTCCTCACTGACCTTGACCTCTCCCTCGGTTCCGTCTC TCCCCACTGACCCTGACCTCTCCCTCGGTTCCTGTCTCTCCTCACTGACC TTGACCTCTCACTCGGTTC	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar

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