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
ABCB11_chr2_168915781_169036324	168975232	T T	TTTATATA others(619): Show TTTATATATTTATATATTTATATATTCATAGATAAATATATAAATATATA AATATTTTTATATTTATAGATAAATATATAAATATATAAATATTTTTATA TTTATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAA TATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTATAGATA AATATATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATA TTTATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAA TATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTATAGATA AATATATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATA TTTATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAA TATATAAATATTTTTATATTTATAGATAAATATATAAATATATAAATATT TTTATATTTATAGATAAATATATAAATATATAAATATTTTTATATTTATA GATAAATATATAAATATTTATATATTTTTATATTTATAGATAAATATATA AATATTTATATATTTTTATATTTATAG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0001 a0003c0013t0001	a0003c0013t0001g0089 a0003c0013t0001g0089	1	286	0.0035	626	c.130 others(645): Show c.1308+1344_1308+1345insCTATAAATATAAAAATATATAAATAT TTATATATTTATCTATAAATATAAAAATATATAAATATTTATATATTTAT CTATAAATATAAAAATATTTATATATTTATATATTTATCTATAAATATAA AAATATTTATATATTTATATATTTATCTATAAATATAAAAATATTTATAT ATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAA ATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATATAT TTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAAT ATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAA ATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATATAT TTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAAT ATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAA ATATAAAAATATTTATATATTTATATATTTATCTATAAATATAAAAATAT TTATATATTTATATATTTATCTATGAATATATAAATATATAAATATATAA	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ADGRB3_chr6_68630282_69394506	69100947	A A	AAGGAGAG others(619): Show AAGGAGAGAGGGAAGAAGGCAGGGAGGGAAGGAGGGAGGGAAGGAAGAAA GGAAGGAGGGAGGGAGGGAAGGAAGGGAGGGAGGGAGGGAAGGAAGGAGG GAAGGAAGGAAGGAGGGAGTGAAGGAAGGCAGGGAGTGAGGGAGGGAGGA AAGGAAGGGACGAAGGAAGGAAGGAAGAAGGGAGGGAGGGAAGGAAGGAA GGAAGGAAGAAGGAAGGGAGGGAAGGAAGGAAGGAAGAAGCGAGGGAGGG AAGGAAGGAAGGAGGGAGGGAGGGAAGGAAGGAAGGAAGGAGAGAGGGAA GAAGGCAGGGAGGGAAGGAGGGAGGGAAGGAAGAAAGGAAGGAGGGAGGG AGGGAAGGAAGGAGGGAGGGAGGGAAGGAAGGAGGGAAGGAAGGAAGGAG GGAGTGAAGGAAGGAAGGCAGGGAGTGAGGGAGGGAGGAAAGGAAGGGAC GAAGGAAGGAAGAAGGGAGGGAGGGAAGGAAGGAAGGAGGAAGGGAAGGA AGAAAGGAAGGAGGAAGGGAAGGAAGGAGGAAGGGAAGGAAGGAGGAAGG GAAGGAAGGAGGAAGGGAAGGAAGGAAGGGAGGAAGGAAGGAAGAAGGGA GCGAGGGAGGGAGGGAAGGAAGGAGGG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03654.hp1 HG02895.hp2 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0091 a0001c0001t0002g0093 a0001c0001t0001g0091 a0001c0001t0002g0093	2	33	0.0606	626	c.248 others(647): Show c.2480+24910_2480+24911insGGAGAGAGGGAAGAAGGCAGGGAG GGAAGGAGGGAGGGAAGGAAGAAAGGAAGGAGGGAGGGAGGGAAGGAAGG GAGGGAGGGAGGGAAGGAAGGAGGGAAGGAAGGAAGGAGGGAGTGAAGGA AGGCAGGGAGTGAGGGAGGGAGGAAAGGAAGGGACGAAGGAAGGAAGGAA GAAGGGAGGGAGGGAAGGAAGGAAGGAAGGAAGAAGGAAGGGAGGGAAGG AAGGAAGGAAGAAGCGAGGGAGGGAAGGAAGGAAGGAGGGAGGGAGGGAA GGAAGGAAGGAAGGAGAGAGGGAAGAAGGCAGGGAGGGAAGGAGGGAGGG AAGGAAGAAAGGAAGGAGGGAGGGAGGGAAGGAAGGAGGGAGGGAGGGAA GGAAGGAGGGAAGGAAGGAAGGAGGGAGTGAAGGAAGGAAGGCAGGGAGT GAGGGAGGGAGGAAAGGAAGGGACGAAGGAAGGAAGAAGGGAGGGAGGGA AGGAAGGAAGGAGGAAGGGAAGGAAGAAAGGAAGGAGGAAGGGAAGGAAG GAGGAAGGGAAGGAAGGAGGAAGGGAAGGAAGGAGGAAGGGAAGGAAGGA AGGGAGGAAGGAAGGAAGAAGGGAGCGAGGGAGGGAGGGAAGGAAGGAGG GA	ADGRB3	ENSG00000135298.15	transcript	ENST00000370598.6	protein_coding	17/31		INFO_REALIGN_3_PRIME	chr6	TogoVar
ADPRHL1_chr13_113394611_113458488	113418980	T T	TTCCCTCC others(619): Show TTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCT TCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCC CTCCCTCCCTCCCTCCCTCTCTCCCTCCCTTCCTTTCTTCCCCTTCCCCT CCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTTC CTTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCC TCCCTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTT TCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCC TCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCC TTCCCCTCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCCTTCC TTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC TTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCTTC ACTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCC TCCCTTCCCTTCCTTCTTTTCCTTCCC	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0014 a0003c0015t0014	a0003c0015t0014g0100 a0003c0015t0014g0100	1	228	0.0044	626	c.106 others(645): Show c.1061+3845_1061+3846insGGGAAGGAAAAGAAGGAAGGGAAGGG AGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAG TGAAGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGA AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGA AGGAAGGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGAGGGGA AGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGG AGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAG AAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAGGG AGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAA GGAAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGG GAGGGGAAGGGGAAGAAAGGAAGGGAGGGAGAGAGGGAGGGAGGGAGGGA GGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGG AAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGA	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7			chr13	TogoVar
ATP9B_chr18_79064394_79383283	79200703	T T	TGTCAGAG others(619): Show TGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGG AGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGG GTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGA GGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGG TCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAG GTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGT CAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGG TGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTC AGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGT GGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCA GAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTG GGAACGTTGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGA GCAGAGGTGGAGGTGGGGACTGTCGGG	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	76	0.0132	626	c.955 others(643): Show c.955-6211_955-6210insAACTGTCGGGGTCAGAGCAGAGGTGGAG GTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGT CAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGG TGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTC AGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGT GGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCA GAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTG GGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAG AGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGG GGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGA GCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGG AACGTTGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGC AGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	9/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
C17orf67_chr17_56786913_56838920	56792709	A A	ATGGTGAT others(619): Show ATGGTGATGATGGGGTGATGGTGATGGTGGTGAGAGTGGTGGTGGGGGTG GTAGTGGTGGAGATGGAGGTAGTGGTGATGGTGACGATGGTAGTGATGGT GGTGGTGGTGGTGGTGGTGGTGACAGTGATGATGATGGTGAGAGTGGTGG TGGTGGTGGTCATGGTGGTGGTGGTGGTGGTGGTGATGGTAATGATGGGG GTGACGGTGGTGGTGATGATGGTGGTGATGGTGATGGTGGTGATGGTGGT GGTGATGGTGGTGGTGGTGGTGGTGATGATGGTGGTGATGGTGGTGATAG TGATGATGGTGGTGATGGTGGTGGTGATGGTGGTGGTGATGGTGATGATG GTGGTGATGGTGGTGGTGGTGATGGTGGTGACGGTGATGGTGGTGATGGT GGTGGTGATGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGATGATGG TGGTGATGGTGGTGGTGGTGGTGATGATGGTGGTGATGGTGGTGATGGTG GTGATGGTGATGGTGGCAGTGATGGTGGTGATGGTGGTGGTGGTGATGGT GATGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGATGGTGATGG TGGTGGTGGTGATGGTGGTGGTGGTGG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	290	0.0034	626	c.21 others(641): Show c.21-358_*21-357insCCACCACCACCACCATCACCACCACCACCA TCACCATCACCACCACCATCACCACCATCACCACCATCACCACCATCACC ATCACCACCACCACCATCACCACCATCACTGCCACCATCACCATCACCAC CATCACCACCATCACCACCATCATCACCACCACCACCACCATCACCACCA TCATCACCATCACCACCACCACCACCACCACCATCACCATCACCACCACC ATCACCACCATCACCGTCACCACCATCACCACCACCACCATCACCACCAT CATCACCATCACCACCACCATCACCACCACCATCACCACCATCATCACTA TCACCACCATCACCACCATCATCACCACCACCACCACCACCATCACCACC ACCATCACCACCATCACCATCACCACCATCATCACCACCACCGTCACCCC CATCATTACCATCACCACCACCACCACCACCACCATGACCACCACCACCA CCACTCTCACCATCATCATCACTGTCACCACCACCACCACCACCACCACC ATCACTACCATCGTCACCATCACCACTACCTCCATCTCCACCACTACCAC CCCCACCACCACTCTCACCACCATCACCATCACCCCATCATCACCA	C17orf67	ENSG00000214226.9	transcript	ENST00000397861.7	protein_coding	7/7			chr17	TogoVar
C20orf96_chr20_265863_295750	279069	A A	AGGGAGGG others(619): Show AGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAG GGAGGGACGGAGGGCGGGACGGCGGGAGGGCGGGACGGAGGGACGGAGGG AGGGCGGGACGGAGGGCGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGAC GGAGGGACGGAGGGCGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGG AGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGGAG GGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGACGGAGGG CGGGACGGCGGGAGGGCGGGACGGAGGGACGGAGGGAGGGCGGGACGGAG GGCGGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGAGGGCGGG ACGGAGGGAGGGAGGGAGGGAGGGACGGAGGGACGGAGGGAGGGAGGGAG GGAGGGACGGAGGGCGGGACGGAGGGAGGGAGGGCGGAGGGAGGGAGGGC GGGACGGAGGGAGGGAGGGAGGGACGGAGGGCGGGACGGAGGGAGGGAGG GCGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGAGGGATGGAG GGAGGGAGGGCGGGACGGAGGGAGGGC	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18970.hp1 NA18964.hp2 NA18970.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0183 a0002c0006t0001g0184 a0002c0006t0001g0183 a0002c0006t0001g0184	2	275	0.0073	626	c.465 others(641): Show c.465+102_465+103insGCCCTCCCTCCGTCCCGCCCTCCCTCCCTC CATCCCTCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGCCCT CCCTCCCTCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCGCC CTCCCTCCCTCCGCCCTCCCTCCCTCCGTCCCGCCCTCCGTCCCTCCCTC CCTCCCTCCCTCCGTCCCTCCGTCCCTCCCTCCCTCCCTCCCTCCGTCCC GCCCTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCCGCCCTC CGTCCCGCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCGCCGTCCCGCCC TCCGTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCTC CGTCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCTCCG TCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCCGCCCTCCGTCCCTCCGTC CCGCCCTCCCTCCCTCCGTCCCGCCCTCCCGCCCTCCGTCCCGCCCTCCC TCCGTCCCTCCGTCCCGCCCTCCCGCCGTCCCGCCCTCCGTCCCTCCCTC CCTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C2CD4C_chr19_400445_414147	404337	T T	TGAGGGGT others(619): Show TGAGGGGTGTGGGGGGGACGGGGCCCTGTCCTGAGGGGTGTGAGGGGGGG GACGGGGCCCTGTCCTGAGGGGTCTGAGGGGGGGACGGGGCCCTGTCCTG AGGGGTGTGAGGGGGAGACGGGTCCTGCCCCGAGGGGTGTGAGGGGGAGA CGGGGTCCTGCCCCGAGGGGTCTGAGGGGGGGACGGGGTCCTGCCCCGAG GGGTCTGAGGGGGGGACGGGGTCCTGCCCCGAGGGGTGTGGGGGGGGGAC GGGGCCCTGTCCTGAGGGGTGTGAGGGGGGGGACGGGGCCCTGTCCTGAG GGGTCTGAGGGGGGGACGGGGCCCTGTCCTGAGGGGTGTGAGGGGGAGAC GGGTCCTGCCCCGAGGGGTGTGAGGGGGGGACGGGGTCCTGCCCCGAGGG GTGTGAGGGGGGGGACGGGGCCCTGTCCCGAGGGGTCTGAGGGGGGGACG GGTCCTGCCCCGAGGGGTGTGAGGGGGGGACGGGGTCCTGCCCCGAGGGG TGTGAGGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGAGGGGGGGGACG GGGTCCTGCCCTGAGGGGTCTGAGGGGGGGACGGGTCCTGCCCCGAGGGG TGTGGGGGGGGGACGGGGTCCTGTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0011 a0001c0001t0009g0011	1	241	0.0041	626	c.27 others(637): Show c.2758_*2759insGGGACAGGACCCCGTCCCCCCCCCACACCCCTCG GGGCAGGACCCGTCCCCCCCTCAGACCCCTCAGGGCAGGACCCCGTCCCC CCCCTCACACCCCTCAGGGCAGGACCCCGTCCCCCCCCTCACACCCCTCG GGGCAGGACCCCGTCCCCCCCTCACACCCCTCGGGGCAGGACCCGTCCCC CCCTCAGACCCCTCGGGACAGGGCCCCGTCCCCCCCCTCACACCCCTCGG GGCAGGACCCCGTCCCCCCCTCACACCCCTCGGGGCAGGACCCGTCTCCC CCTCACACCCCTCAGGACAGGGCCCCGTCCCCCCCTCAGACCCCTCAGGA CAGGGCCCCGTCCCCCCCCTCACACCCCTCAGGACAGGGCCCCGTCCCCC CCCCACACCCCTCGGGGCAGGACCCCGTCCCCCCCTCAGACCCCTCGGGG CAGGACCCCGTCCCCCCCTCAGACCCCTCGGGGCAGGACCCCGTCTCCCC CTCACACCCCTCGGGGCAGGACCCGTCTCCCCCTCACACCCCTCAGGACA GGGCCCCGTCCCCCCCTCAGACCCCTCAGGACAGGGCCCCGTCCCCCCCC TCACACCCCTCAGGACAGGGCCCCGTCCCCCCCACACCCCTC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1107		chr19	TogoVar
CACNA1H_chr16_1148106_1226768	1185709	T T	TGCGTAGG others(619): Show TGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGTGGGCGAGTAGACGGCA TGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCG TAGGGGCCGGAGGCGGGGTGTGTATGGGGCGGGTGAGTAGACGGCGTGCA TAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGG GGCCGGAGGCGGGGTGTGTATGGGGCAGGTGAGTAGACGGCGTGCATAGG GGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCC GGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAG GCGGGGTGTGTATGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCC GGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAG GCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAG GCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGG GGTACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCTGGAGGCGG GGTGTGTACGGGGCGGGTGAGTAGACG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0003 a0003	a0003c0022 a0003c0022	a0003c0022t0026 a0003c0022t0026	a0003c0022t0026g0025 a0003c0022t0026g0025	1	326	0.0031	626	c.300 others(643): Show c.300-9241_300-9240insACGTGGGGGGTGGGCGAGTAGACGGCAT GTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGT AGGGGCCGGAGGCGGGGTGTGTATGGGGCGGGTGAGTAGACGGCGTGCAT AGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGG GCCGGAGGCGGGGTGTGTATGGGGCAGGTGAGTAGACGGCGTGCATAGGG GCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCG GAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGG CGGGGTGTGTATGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCG GAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGG CGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGG CGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGG GTACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCTGGAGGCGGG GTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGT	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185709	T T	TGCGTAGG others(619): Show TGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGTGGGCGAGTAGACGGCA TGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCG TAGGGGCCGGAGGCGGGGTGTGTATGGGGCGGGTGAGTAGACGGCGTGCA TAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGG GGCCGGAGGCGGGGTGTGTATGGGGCGGGTGAGTAGACGGCGTGCATAGG GGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCC GGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAG GCGGGGTGTGTATGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCC GGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAG GCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAG GCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGG GGTACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCTGGAGGCGG GGTGTGTACGGGGCGGGTGAGTAGACG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0049 a0049	a0049c0065 a0049c0065	a0049c0065t0007 a0049c0065t0007	a0049c0065t0007g0201 a0049c0065t0007g0201	1	326	0.0031	626	c.300 others(643): Show c.300-9241_300-9240insACGTGGGGGGTGGGCGAGTAGACGGCAT GTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGT AGGGGCCGGAGGCGGGGTGTGTATGGGGCGGGTGAGTAGACGGCGTGCAT AGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGG GCCGGAGGCGGGGTGTGTATGGGGCGGGTGAGTAGACGGCGTGCATAGGG GCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCG GAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGG CGGGGTGTGTATGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCG GAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGG CGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGG CGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGG GTACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCTGGAGGCGGG GTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGT	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CALN1_chr7_71774491_72417338	72209170	T T	TTCCTTCC others(619): Show TTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTTTCCCTCCTTCC CTCTTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCTT CCGTCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCC TTCCTTCCGTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTT CCCTCTTTCCTTCCCTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCC CTCTTTCCTTCCCTCCTTCCCTCCTTCCTTCCGTCCTTCCCTCCTTCCCT CCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCTTCCGTCCTTCCCTCC TTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTT CCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCC CTCCTTCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCT CCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCC CTCCTTCCCTCTTTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCCT CCTTCCCTCCTTCCCTCCTTCCTTCCC	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0096 a0001c0001t0016g0096	1	127	0.0079	626	c.244 others(645): Show c.244+69515_244+69516insGGGAAGGAAGGAGGGAAGGAGGGAAG GAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAAGAGGGAAGGA GGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAAG GAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGA GGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGG GAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGA AGGAGGGAAGGACGGAAGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAG GAGGGAAGGAGGGAAGGACGGAAGGAAGGAGGGAAGGAGGGAAGGAAAGA GGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAGGGAAGGAAAGAGG GAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGACGGAAGGA AGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGACG GAAGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAAAGA GGGAAGGAGGGAAAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CAMKK2_chr12_121232692_121301709	121255222	A A	ATATATAT others(619): Show ATATATATATAATTATATATATATAATTATATATATAATTTTATATATAT ATAATTATATATATAATTTTTATATATATATAATTATATATATTTATATA TATATAATTATATATATATATAAAATTATATATATAATTATATATATTAT ATATAATTATATATATAATTTTATATATATAATTATATATATTTATATAT ATATATATAATTATATATATATATAAAATTATATATATAATTATATATAT ATTATATATAATTATATATATATATTATATATAATTTTATATATATAATT ATATATATAATTTTATATATATAATTTTATATATATAATTTTATATATAT AATTTTATATATATAATTATATATATAATTTTATATATATATAATTATAT ATATAATTTTATATATATATAATTATATATATAATTTTATATATATATAA TTATATATATAATTTTATATATATATAATTATATATATAATTTTATATAT ATATAATTATATATATAATTATATATATAATTTTATATATATAATTATAT ATATAATTTTATATATATATAATTATATATATAATTTTATATATATAATT ATATATATAATTTTATATATATATAAT	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0007 a0002c0004t0007	a0002c0004t0007g0245 a0002c0004t0007g0245	1	94	0.0106	626	c.907 others(641): Show c.907+327_907+328insATTATATATATATAAAATTATATATATAAT TATATATATAAAATTATATATATAATTATATATATATAAAATTATATATA TAATTATATATATAAAATTATATATATAATTATATATATAATTATATATA TATAAAATTATATATATAATTATATATATATAAAATTATATATATAATTA TATATATATAAAATTATATATATAATTATATATATATAAAATTATATATA TAATTATATATATATAAAATTATATATATAATTATATATATAAAATTATA TATATAAAATTATATATATAAAATTATATATATAAAATTATATATATAAT TATATATATAAAATTATATATAATATATATATATAATTATATATAATATA TATATAATTATATATATAATTTTATATATATATATAATTATATATATATA TATAAATATATATAATTATATATATAAAATTATATATATAATTATATATA ATATATATAATTATATATATAATTTTATATATATATATAATTATATATAT ATAAATATATATAATTATATATATATAAAAATTATATATATAATTATATA TATATAAAATTATATATATAATTATATATATATAATTATATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CCDC57_chr17_82096470_82217842	82215658	G G	GCCCCCAC others(619): Show GCCCCCACACTGCAGCAACCCTCCCCCTCCTTCCCTGCCCCCCACACTGC AGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCC TCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCC CCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGC ACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTC CTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCC CCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCA CCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCT TCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCCA CACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCC CTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCC CTGCCCCCACACTGCAGCACCCCTCCCCTTCCTTCCCTGCCCCCCACACT GCAGCACCCCTCCCCCTCCTTCCCTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	50	0.0200	626	c.-28 others(637): Show c.-2883_-2882insGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGG GGGGCAGGGAAGGAAGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGA GGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCT GCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGG GCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGG GGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCA GTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCA GGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGG AGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAG TGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGG GAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAG GGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGT GGGGGGCAGGGAAGGAGGGGGAGGGTTGCTGCAGTGTGGGGG	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding		2817		chr17	TogoVar
CCDC57_chr17_82096470_82217842	82215658	G G	GCCCCCAC others(619): Show GCCCCCACACTGCAGCACCCCTCTCTCTCAACAACAACAACGGAGGAGGA GGAAAAGAGAGAGATCTCTCTCTCAACAACAACAACGGAGGAGGGAGGAA AAGAGAGAGATCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCC CCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGC ACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTC CTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCC CCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCA CCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCT TCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCCA CACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCC CTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCC CTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACT GCAGCACCCCTCCCCCTCCTTCCCTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	50	0.0200	626	c.-28 others(637): Show c.-2883_-2882insGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGG GGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGA GGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCT GCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGG GCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGG GGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCA GTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCA GGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGG AGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAG TGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGG GAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGATCTCTCTCTTTTCCTCC CTCCTCCGTTGTTGTTGTTGAGAGAGAGATCTCTCTCTTTTCCTCCTCCT CCGTTGTTGTTGTTGAGAGAGAGGGGTGCTGCAGTGTGGGGG	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding		2817		chr17	TogoVar
CCDC57_chr17_82096470_82217842	82215697	C C	CCCCCACA others(619): Show CCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAG CACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCC TCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCC CCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGC ACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTC CTTCCCTGCCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCC CCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCAC CCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTT CCCTGCCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCA CACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCC TCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCC TGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCCACAC TGCAGCACCCCTCCCCCTCCTTCCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	56	0.0179	626	c.-29 others(637): Show c.-2922_-2921insCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGG GGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGG AGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGC TGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGG CAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGGGAAGGAGG GGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGC AGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAG GGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGGGAAGGAGGGGG AGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAG TGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGG GAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGGA GGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGT GTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGG	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding		2856		chr17	TogoVar
CCDC57_chr17_82096470_82217842	82215697	C C	CCCCCACA others(619): Show CCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAG CACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCT CCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCC CCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCA CCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCC TTCCCTGCCCCCCCACACTGCAGCACCCCTCCCCCCTCCTTCCCTGCCCC CCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCAC CCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTT CCCTGCCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCA CACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCC TCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCC TGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCCACAC TGCAGCACCCCTCCCCCTCCTTCCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	56	0.0179	626	c.-29 others(637): Show c.-2922_-2921insCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGG GGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGG AGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGC TGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGG CAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGGGAAGGAGG GGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGC AGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAG GGAAGGAGGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGGGAAGGAGGGG GAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCA GTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAG GGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGA GGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGT GTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGG	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding		2856		chr17	TogoVar
CCDC57_chr17_82096470_82217842	82215697	C C	CCCCCACA others(619): Show CCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAG CACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCT CCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCC CCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCA CCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCC TTCCCTGCCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCC CACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACC CCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTC CCTGCCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCAC ACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCC TCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCC TGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCCACAC TGCAGCACCCCTCCCCCTCCTTCCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	56	0.0179	626	c.-29 others(637): Show c.-2922_-2921insCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGG GGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGG AGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGGTG CTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGG GCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGGGAAGGAG GGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTG CAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCA GGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGGGAAGGAGGGG GAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCA GTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAG GGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGA GGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGT GTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGG	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding		2856		chr17	TogoVar
CCDC57_chr17_82096470_82217842	82215697	C C	CCCCCCAC others(619): Show CCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCA GCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCC TCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCC CCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGC ACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTC CTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCC CACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCCACACTGCAGCA CCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCC TTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCAC ACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCT CCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCC TGCCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACAC TGCAGAACCCCTCCCCCTCCTTCCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02647.hp1 HG02886.hp1 others(1): Show HG02572.hp1 HG02647.hp1 HG02886.hp1 HG03139.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0002 a0007c0011t0002	a0007c0011t0002g0009 a0007c0011t0002g0010 a0007c0011t0002g0011 others(1): Show a0007c0011t0002g0009 a0007c0011t0002g0010 a0007c0011t0002g0011 a0007c0011t0002g0012	4	59	0.0678	626	c.-29 others(637): Show c.-2922_-2921insCAGGGAAGGAGGGGGAGGGGTTCTGCAGTGTGGG GGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGGGAAGG AGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTG CTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGG CAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGG GAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCA GTGTGGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCA GGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGG AGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAG TGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGG GAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAG GGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTG TGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGG	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding		2856		chr17	TogoVar
CCDC6_chr10_59783747_59911556	59882361	G G	GGAGAAGG others(619): Show GGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAG AAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAA AGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAA GCCGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGG GGAGAAGGAAAGGAAAGCCAGGGGGAGAAGGAAAGGAAAGCCGGCGGGAG AAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGG AAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAG GAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAA GCCGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGG GGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGGGAGA AGGAAAGGAAAGCCAGGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGA AAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAG CCGGGGGAGAAGGAAAGGAAAGCCGGC	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0089 a0001c0003t0003g0089	1	230	0.0043	626	c.303 others(645): Show c.303+23760_303+23761insGCCGGCTTTCCTTTCCTTCTCCCCCG GCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCT TTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCCTGGCTTTCCTTTCC TTCTCCCCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCC CCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCGG CTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCCCGGCTTT CCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTT TCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCT TCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCTGGCTTTCCTTTCCTTCTC CCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCGG CTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCC TTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCT TCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTC	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CCDC88C_chr14_91266323_91422820	91293498	A A	ACCCGCCA others(619): Show ACCCGCCACAGCTCACTTTCCCATCCTCACGTGCCACAGCTCACCTTCCC ATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCAGAGCTCAC CTTCCCATCCTCACGTGCCACAGCTCACCTTCCCATCCTCACCCGCCACA GCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCC GCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCC TCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTC CCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTC ACCTTCCCATCCTCACGTGCCACAGCTCACCTTCCCATCCTCACCCGCCA CAGCTCACCTTCCCATCCTCACGTGCCACAGCTCACCTTCCCATCCTCAC CCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCCCACCTTCCTGT CCCCTCACCTGCCACGGCCCACCTTCCTGTCCCCTCACCTGCCACGGCCC ACCTTCCTGCCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCTCGCCT GCCACGGCCCACCTTCCTGCCCCCTCG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0037 a0001c0037	a0001c0037t0001 a0001c0037t0001	a0001c0037t0001g0074 a0001c0037t0001g0074	1	229	0.0044	626	c.411 others(643): Show c.4112+674_4112+675insCGAGGGGGCAGGAAGGTGGGCCGTGGCA GGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGGCAGGAAGGTG GGCCGTGGCAGGTGAGGGGACAGGAAGGTGGGCCGTGGCAGGTGAGGGGA CAGGAAGGTGGGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGG TGAGGATGGGAAGGTGAGCTGTGGCACGTGAGGATGGGAAGGTGAGCTGT GGCGGGTGAGGATGGGAAGGTGAGCTGTGGCACGTGAGGATGGGAAGGTG AGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGG AAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAG GATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCG GGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCT GTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCACGTGAGGATGGGAAGG TGAGCTCTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATG GGAAGGTGAGCTGTGGCACGTGAGGATGGGAAAGTGAGCTGTGGCGGG	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CDC42SE2_chr5_131259053_131399672	131278747	C C	CCCCTCCC others(619): Show CCCCTCCCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCC CTCCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTC CCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCC CTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCC CCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTC CCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCT CCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCT CCCTTCCCCTCCTCTCCCCTCTCCCCT	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	254	0.0039	626	c.-45 others(647): Show c.-455+14589_-455+14590insCCCCTCCCCTCCCCCTCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCT CCCCCCTCCCCTCCCCCCTCCCCCCTCCCCCTCCCCCTCCCCTCCCCCTC CCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCC CTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCC CCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTC CCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCT CCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCT CCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCTCCCCTCCCTCC CC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CHTF18_chr16_783620_803074	795593	T T	TGCTGCCC others(619): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGC TGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTGC CCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGGC CCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCC CGTGCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCC CCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGC CCCGCCCCTCCCCTCCCCCCCCCCCGC	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	8	0.1250	626	c.217 others(641): Show c.2176-73_2176-72insCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGC TGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTGC CCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGGC CCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCC CGTGCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCC CCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGC CCCGCCCCTCCCCTCCCCCCCCCCCGCGCTGCCCGTGTGGCTGCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHTF18_chr16_783620_803074	795593	T T	TGCTGCCC others(619): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGC TGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTGC CCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGGC CCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCC CGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCC CCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCG CCCCGCCCCTCCCCTCCCCCCCCCCGC	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0066 a0003c0003t0001g0066	1	8	0.1250	626	c.217 others(641): Show c.2176-73_2176-72insCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGC TGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTGC CCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGGC CCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCC CGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCC CCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCG CCCCGCCCCTCCCCTCCCCCCCCCCGCGCTGCCCGTGTGGCTGCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHTF18_chr16_783620_803074	795593	T T	TGCTGCCC others(619): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCCAACCACACT GCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGT GGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCC CGGCCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCG GCCCCGTGCCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCC CCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCC GTGCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCC CCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGC CCCGCCCCTCCCCTCCCCCCCCCCCGC	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	8	0.1250	626	c.217 others(641): Show c.2176-73_2176-72insCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCCAACCACACT GCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGT GGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCC CGGCCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCG GCCCCGTGCCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCC CCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCC GTGCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCC CCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGC CCCGCCCCTCCCCTCCCCCCCCCCCGCGCTGCCCGTGTGGCTGCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
COL5A1_chr9_134636803_134849843	134714573	T T	TTGGTGAA others(619): Show TTGGTGAAGGTGGTGGTGGAGGTGATTGTGATGGTGTGATGCTGATGAAG GTGGTGGTGGAGGTGATGGTGGTGGTGGTGGTGGAGGCGATGATAGTGGT GGTGGTGGTGATGCTGGTGAAGGTGGTAGTGGAGGTGATGGTAGTGGTGG TGATGCTGGTGGAGGTGGTGATGGAGGTGATTGTGATGGTGTGATGCTGG TGAAGGTGGTGGTGGAGGTGATTGTGGTGGTGGTGGTGGTGGTGGAGGCG ATGATGGTGGTGGTGGTGATGCTGGTGAAGGTGGTAGTGGAGGTGATGGT AGTGCTGGTGATGCTGGTGAAGGTGGTGGTGGAGGTGATTGTGATGGTGT GATGCTGATGAAGGTGGTGGTGGAGGTGATGGTGGTGGTGGTGGTGGAGG CGATGATAGTGGTGGTGGTGGTGATGCTGGTGAAGGTGGTAGTGGAGGTG ATGGTAGTGGTGGTGATGCTGGTGGAGGTGGTGATGGAGGTGATTGTGAT GGTGTGATGCTGGTGAAGGTGGTGGTGGAGGTGATTGTGGTGGTGGTGGT GGTGGTGGAGGCGATGATGGTGGTGGTGGTGATGCTGGTGAAGGTGGTAG TGGAGGTGATGGTAGTGCTGGTGATGC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0004 a0001c0007t0004	a0001c0007t0004g0028 a0001c0007t0004g0028	1	270	0.0037	626	c.655 others(645): Show c.655-12390_655-12389insCTGGTGATGCTGGTGAAGGTGGTGGT GGAGGTGATTGTGATGGTGTGATGCTGATGAAGGTGGTGGTGGAGGTGAT GGTGGTGGTGGTGGTGGAGGCGATGATAGTGGTGGTGGTGGTGATGCTGG TGAAGGTGGTAGTGGAGGTGATGGTAGTGGTGGTGATGCTGGTGGAGGTG GTGATGGAGGTGATTGTGATGGTGTGATGCTGGTGAAGGTGGTGGTGGAG GTGATTGTGGTGGTGGTGGTGGTGGTGGAGGCGATGATGGTGGTGGTGGT GATGCTGGTGAAGGTGGTAGTGGAGGTGATGGTAGTGCTGGTGATGCTGG TGAAGGTGGTGGTGGAGGTGATTGTGATGGTGTGATGCTGATGAAGGTGG TGGTGGAGGTGATGGTGGTGGTGGTGGTGGAGGCGATGATAGTGGTGGTG GTGGTGATGCTGGTGAAGGTGGTAGTGGAGGTGATGGTAGTGGTGGTGAT GCTGGTGGAGGTGGTGATGGAGGTGATTGTGATGGTGTGATGCTGGTGAA GGTGGTGGTGGAGGTGATTGTGGTGGTGGTGGTGGTGGTGGAGGCGATGA TGGTGGTGGTGGTGATGCTGGTGAAGGTGGTAGTGGAGGTGATGGTAGTG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	4/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
CROCC2_chr2_240901336_240998311	240924567	C C	CCCCCACA others(619): Show CCCCCACACTAACCCAGCCCCCACACTAACCCAGCCCCCACACTATCCCG GCCCCCACACTAACCCGGCCCCCACACTAACCCAGCCCCCACACTAACCC GGCCCCCACACTAACCCAGCCCCCCACACTAACCCAGCCCCCACACTAAC CCAGCCCCCACACTAACCCGGCCCCCACACTAACCCAGTCCCCACACTAA CCCGGCCCCCCACACTGACCCGGCCCCCCACACTGACCCGGCCCCCCACA CTGACCCAGTCCCCCACACTAACCCGGCCCCCACACTAACCCGGTCCCCA CACTAACCCAGTCCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCC CACACTAACCCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCAGTC CCCACACTAACCCAGTCCCCACACTAACCCGGCCCCCCACACTAACCCGG CCCCCCACACTAACCCGGCCCCCCACACTAACGCAGTCCCCCACACTAAC CCAGTCCCCCACACTAACCCAGCCCCCACACTGACCCGGCCCCCAACACT AACCCAGCCCCCCACACTGACCCAGTCCCCACACTAACCCGGCCCCCACA CTAACCCGGCCCCCCACACTAACCCGG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0013 a0013	a0013c0075 a0013c0075	a0013c0075t0001 a0013c0075t0001	a0013c0075t0001g0007 a0013c0075t0001g0007	1	316	0.0032	626	c.489 others(643): Show c.489-1153_489-1152insACACTAACCCAGCCCCCACACTAACCCA GCCCCCACACTATCCCGGCCCCCACACTAACCCGGCCCCCACACTAACCC AGCCCCCACACTAACCCGGCCCCCACACTAACCCAGCCCCCCACACTAAC CCAGCCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCACACTAA CCCAGTCCCCACACTAACCCGGCCCCCCACACTGACCCGGCCCCCCACAC TGACCCGGCCCCCCACACTGACCCAGTCCCCCACACTAACCCGGCCCCCA CACTAACCCGGTCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCC ACACTAACCCGGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTC CCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCACACTAACCCGGC CCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCCACACTAACG CAGTCCCCCACACTAACCCAGTCCCCCACACTAACCCAGCCCCCACACTG ACCCGGCCCCCAACACTAACCCAGCCCCCCACACTGACCCAGTCCCCACA CTAACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
DCDC2_chr6_24166755_24363059	24238180	G G	GGGAGGAA others(619): Show GGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAATGAAGG GAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGAATGGAGGGAGGGAGGGA GGGAGGGAGGAATGGAGGAATGGAGGGATGGGGAGGGGGAGGGGAGGGGG AGGGGAGTGGAAGGGGGAGGGGAGGGGGAGGGGAGTGGAAGGGGGAGGGG AGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAG GGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGG GGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGGAG GGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGGAGGGGAG GGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGGAG GGGAAGGGGAAGGGGAGGGGGAGGGGAAGGGGAGGGGGAGGGGGAGGGGA AGGGGAAGGGGAGGGGGAGGGGAAGGGGGAGACAGAGGGGAGGGGGAGGG GAAGGGGGAGACAGAGGGGAGGGGGAA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	164	0.0061	626	c.923 others(645): Show c.923-33079_923-33078insTTCCCCCTCCCCTCTGTCTCCCCCTT CCCCTCCCCCTCCCCTCTGTCTCCCCCTTCCCCTCCCCCTCCCCTTCCCC TTCCCCTCCCCCTCCCCCTCCCCTTCCCCTCCCCCTCCCCTTCCCCTTCC CCTCCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCCTTCCACTCCCCTCCCCCTCCCCTCCCCCTTCCACTCCCC TCCCCCTCCCCTCCCCCTCCCCATCCCTCCATTCCTCCATTCCTCCCTCC CTCCCTCCCTCCCTCCATTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCT CCCTTCATTCCTCCCTCCCTCCCTTCATTCCTCCCTCCCTCCCTTCCTCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DHRSX_chrX_2214506_2505976	2228116	G G	GGGAGGAA others(619): Show GGGAGGAAGGGAGGGAGGGAAGGAGGGAGGGAGGAAGGAGGGAGGGAGGG AGGGAGGAAGGGATGGAGGAAGGGAGGGAGGAAGGGAGGGAGGGAGGGAG GAAGGGAGGGAGGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGG GAGGAAGGGAGGGAGGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGACGA AGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGGGAAGGAG GGAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGAAGGGATGGAGGAAGGG AGGGAGGGAGGGAGGAAGGGAGGGAGGGAAGGGAGGGAGGGAGGGAGGAA GGGAGGGAGGGAGGAAGGGAGGGAGGGAAGGGAGGAAGGGAGGGAGGGAG GGAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGGG AGGAAGGGAGGAAGGGAGGAGGGAGGGAGGAAGGGAGGGAGGAAGGGAGG GAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGAAGGGAGGGAGGGA GGGAGGAAGGGAGGGAGGGAAGGGAGGGAGGGAGGGAGGAAGGAAGGGAG GGAGGAAGGGAGGGAGGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0013 a0002c0002t0002g0013	1	40	0.0250	626	c.805 others(643): Show c.805-6888_805-6887insTCCCTCCCTCCCTCCCTCCCTTCCTCCC TCCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCCTCCCTCCCTTCCTCCCT CCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCC CTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCTCCCTTCCTCCCTTCCTC CCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTTCCTCCCTTCCCTCCCTCCCTTCCTCCCTCCCTCCCT TCCTCCCTCCCTCCCTCCCTTCCCTCCCTCCCTTCCTCCCTCCCTCCCTC CCTTCCTCCATCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCC TCCTTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTT CGTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCCTCCCTCCCTTCCTCC CTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCCTCCCTCCCTTCC TCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCATCCCTTCCTCCCTC CCTCCCTCCCTCCTTCCTCCCTCCCTCCTTCCCTCCCTCCCTTCCTCC	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	6/6			chrX	TogoVar
DPEP1_chr16_89608642_89643433	89619246	C C	CCCCCCCG others(619): Show CCCCCCCGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGC AGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTC CCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCC CCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCA GCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTC CCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCATGC CCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCA GCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCC CCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCC CCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCTCTGCAG CCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCC CTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCC CCCCGCTCCCCTCCCTGCAGCTCCATG	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	239	0.0042	626	c.-10 others(645): Show c.-107+5533_-107+5534insGCTCCCCTCCCTGCAGCTCCATGCCC CCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGC CCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCT CCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCC CCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGC CCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCC TCCCTGCAGCTCCATGCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCC CCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCC CCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTC CCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCC TGCTCCCCTCTCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTC CCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTC CCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCATGCCCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89619397	C C	CCCCCCCG others(619): Show CCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTG CAGCTCCATGCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTC CCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGC CCCCCCGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCA GCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCC CCTCTCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCC CCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCA GCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCC CTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCC CCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAG CCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCC CCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCATGCC CCCCGCTCCCCTCCCTGCAGCTCCCTG	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	235	0.0043	626	c.-10 others(645): Show c.-107+5684_-107+5685insGCTCCCCTCCCTGCAGCCCCCTGCCC CCCCGCTCCCCTCCCTGCAGCTCCATGCCCCCCTGCTCCCCTCCCTGCAG CTCCATGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCC TCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCATGCCCC CCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCT CCCTGCCCCCCTGCTCCCCTCTCTGCAGCCCCCTGCCCCCCCGCTCCCCT CCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCC CTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCT CCATGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTC CCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCC CGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCC CCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCT CCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DYM_chr18_49031387_49465645	49202952	T T	TGGTGGGG others(619): Show TGGTGGGGGTCGGCCCCCGGCCCGGCCAGCTGCCCCGTCCGGGAGGGAGG TGGGGGGGGGGGTCAGCCGCCCGGTCCGGGAGGTGAGGGGCGCCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCC CATCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGC CCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAG TGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GTGTCGGCCCCCCCGTCCGGCCAGCCGCTCCGTCCGGGAGGGAGGTGGGG GGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGGGTCAGCCCCCCTGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGG CGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGG CCAGCCGCCCGTCCGGGAGGGAGGTGG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0103 a0001c0001t0003g0103	1	245	0.0041	626	c.162 others(645): Show c.1625+6598_1625+6599insCCACCTCCCTCCCGGACGGGCGGCTG GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCAGGGGGGCTGACCCC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCC CCCCCACCTCCCTCCCGGACGGAGCGGCTGGCCGGACGGGGGGGCCGACA CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGAT GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCGGACCGGGCGGCTGACCCCCCCCCCC ACCTCCCTCCCGGACGGGGCAGCTGGCCGGGCCGGGGGCCGACCCCCACC	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	14/17			chr18	TogoVar
EBF2_chr8_25836725_26050413	26005367	A A	AATATATA others(619): Show AATATATAATTATATATAATATATAATTATATATTATATATAATTATATA TTATATATAATTATATATTATATATAATATATAATTATATATTATATATA ATATATAATTATATATAATATATAATATATTATATATTATATATATTATA TAAAATATAATATATTATATATAATTATATATTATATATTATATATAATA TATAATTATATGTTATATATTATATATATTATATATTATATATATATTAT ATATATAATATATATTATATATTAAATTATATATAATATATATTATATAT ATAATTTATATATATAAAATATATTATATATTATATAAATATATATATTT TATATATATAAAATATATATTTTATAATATATAATATAGAAATGTATATT ATATAATATATAATTATATATAATTATATATTATATAATATATATTTCTA TATTATATATTTATAATGTATAATATATAAATATATTATAAATATATATT ATATACTATATAATGCATTATAAATATATTATATTTATATATTATAAATA TATTACATATTTATATATTATATATATAATATATATATTATATATTATAA ATATATTTTATAAAATATAATATATAT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0112 a0001c0002t0001g0112	1	173	0.0058	626	c.551 others(645): Show c.551+27717_551+27718insATATATATTATATTTTATAAAATATA TTTATAATATATAATATATATATTATATATATAATATATAAATATGTAAT ATATTTATAATATATAAATATAATATATTTATAATGCATTATATAGTATA TAATATATATTTATAATATATTTATATATTATACATTATAAATATATAAT ATAGAAATATATATTATATAATATATAATTATATATAATTATATATTATA TAATATACATTTCTATATTATATATTATAAAATATATATTTTATATATAT AAAATATATATATTTATATAATATATAATATATTTTATATATATAAATTA TATATATAATATATATTATATATAATTTAATATATAATATATATTATATA TATAATATATATATAATATATAATATATATAATATATAACATATAATTAT ATATTATATATAATATATAATATATAATTATATATAATATATTATATTTT ATATAATATATATAATATATAATATATTATATATTATATATAATTATATA TTATATATAATATATAATTATATATTATATATAATATATAATTATATATA ATATATAATTATATATAATATATAATTATATATTATATATAATTATATAT	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15			chr8	TogoVar
EIPR1_chr2_3183970_3382818	3315642	C C	CCCCATCC others(619): Show CCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCCACACC CCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCACCACC ATCACCACCATCCCCATCCACAGCCCCTACCACCACCATCACCACCATCC CCATCCACAGCCCCTACCACCACCATCACCACCATCCCCATACACACCCC CTACCACCACCATCACCACCATCCCCATCCACAGCCCCTACCACCACCAT CACCACCATCCCCATCCACAGCCCCACCACCATCCTCACCACCATCCCCA TCCACACCCCCTACCACCACCATCACCACCATCCCCATCCACAGCCCCTA CCACCACCATCACCACCATCCCCATACACACCCCCTACCACCACCATCAC CACCATCCCCATCCACAGCCCCTACCACCACCATCACCACCATCCCCATC CACAGCCCCACCACCATCCTCACCACCATCCCCATCCACACCCCCTACCA CCACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCAC CATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCCAC ACCCCCTACCACCACCATCACCACCAT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01175.hp1 HG02965.hp2 HG00733.hp1 HG01175.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0050 a0001c0001t0003g0068 a0001c0001t0003g0131 a0001c0001t0001g0050 a0001c0001t0003g0068 a0001c0001t0003g0131	3	202	0.0149	626	c.259 others(645): Show c.259+22374_259+22375insATGGTGGTGATGGTGGTGGTAGGGGG TGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGAT GGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTG GTGGTAGGGGGTGTGGATGGGGATGGTGGTGAGGATGGTGGTGGGGCTGT GGATGGGGATGGTGGTGATGGTGGTGGTAGGGGCTGTGGATGGGGATGGT GGTGATGGTGGTGGTAGGGGGTGTGTATGGGGATGGTGGTGATGGTGGTG GTAGGGGCTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGG ATGGGGATGGTGGTGAGGATGGTGGTGGGGCTGTGGATGGGGATGGTGGT GATGGTGGTGGTAGGGGCTGTGGATGGGGATGGTGGTGATGGTGGTGGTA GGGGGTGTGTATGGGGATGGTGGTGATGGTGGTGGTAGGGGCTGTGGATG GGGATGGTGGTGATGGTGGTGGTAGGGGCTGTGGATGGGGATGGTGGTGA TGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGG GGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EXOC3L4_chr14_103089725_103115559	103109398	T T	TCCCTCCC others(619): Show TCCCTCCCTCCCTCTCCACCCTGTCCCCATGTCTCCCTCCCTCCCTCCCT CTCCACCCTGTCCCCATGTCTCCCTCCCTCCCTCCCTCTCCACCCTGCCC CCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGTCCCCGTGTCTCCCTCC CTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCC ACCCTGTCCCCGTGTCTCCCTCCCTCCCTCCCTCTCCACCCTGCCCCCAT GTCTCCCTCCTCCCTCCCTCTCCACCCTGTCCCCGTGTCTCCCTCCCTCC CTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCC TGTCCCCATGTCTCCCTCCCTCCCTCCCTCTCCACCCTGTCCCCATGTCT CCCTCCCTCCCTTCCTCTCCACCCTGTCCCCATGTCTCCCTCCCTCCCTC CCTCTCCACCCTGTCCCCATGTCTCCCTCCCTCCCTCCCTCTCCACCCTG TCCCCGTGTCTCCCTCCCTCCCTCCCTCTCCACCCTGTCCCCGTGTCTCC CTCCCTCCCTCCCTCTCCACCCTGTCCCCATGTCTCCCTCCCTCCCTTCC TCTCCACCCTGTCCCCATGTCTCCCTC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0003 a0003	a0003c0025 a0003c0025	a0003c0025t0001 a0003c0025t0001	a0003c0025t0001g0124 a0003c0025t0001g0124	1	340	0.0029	626	c.197 others(643): Show c.1977-631_1977-630insCTCCCTCCCTCTCCACCCTGTCCCCATG TCTCCCTCCCTCCCTCCCTCTCCACCCTGTCCCCATGTCTCCCTCCCTCC CTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCC TGTCCCCGTGTCTCCCTCCCTCCCTCCCTCTCCACCCTGCCCCCATGTCT CCCTCCTCCCTCCCTCTCCACCCTGTCCCCGTGTCTCCCTCCCTCCCTCC CTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGTC CCCGTGTCTCCCTCCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCT CCTCCCTCCCTCTCCACCCTGTCCCCATGTCTCCCTCCCTCCCTCCCTCT CCACCCTGTCCCCATGTCTCCCTCCCTCCCTTCCTCTCCACCCTGTCCCC ATGTCTCCCTCCCTCCCTCCCTCTCCACCCTGTCCCCATGTCTCCCTCCC TCCCTCCCTCTCCACCCTGTCCCCGTGTCTCCCTCCCTCCCTCCCTCTCC ACCCTGTCCCCGTGTCTCCCTCCCTCCCTCCCTCTCCACCCTGTCCCCAT GTCTCCCTCCCTCCCTTCCTCTCCACCCTGTCCCCATGTCTCCCTCCC	EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
FHIT_chr3_59742277_61256452	60861204	T T	TATATATG others(619): Show TATATATGATATATATCATATATGATATATATCATATATGATATATATGA TATATATCATATATGATATATATGATATATATGATATATATCATATGATA TGATATATATGATATATATGATATATATCATATGATATGATATATATGAT ATATATGATATATATCATATGATATGATATATATCATATATATGATATAT ATCATATGATATGATATATATCATATATATGATATATATCATATGATATG ATATATATGATATATATGATATATATCATATATATGATATCATATGATAT ATATCATATATATGATATATATGATATATATCATATATATGATATATATC ATATGATATCATATATATGATATATATCATATATATGATATATATCATAT GATATCATATATATGATATATATCATATATATCATATCTCATATGATATA TATCATATATATCATATCATATATGAAATATATGATATATATGATATATC ATATCATATATGATATATATGATATATATGATATATCATATCATATCATA TATGATATATATGATATATGATATATCATATCATATCATATATGATATAT ATGATATATGATATATCATATCATATC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0006 a0001c0001t0007g0006	1	23	0.0435	626	c.-11 others(647): Show c.-110-39194_-110-39193insGATATGATATGATATATCATATAT CATATATATCATATATGATATGATATGATATATCATATATCATATATATC ATATATGATATGATATGATATATCATATATATCATATATATCATATATGA TATGATATATCATATATATCATATATTTCATATATGATATGATATATATG ATATATATCATATGAGATATGATATATATGATATATATCATATATATGAT ATCATATGATATATATCATATATATGATATATATCATATATATGATATCA TATGATATATATCATATATATGATATATATCATATATATCATATATATGA TATATATCATATGATATCATATATATGATATATATCATATATATCATATA TATCATATCATATGATATATATCATATATATGATATATATCATATCATAT GATATATATCATATATATGATATATATCATATCATATGATATATATCATA TATATCATATATATCATATCATATGATATATATCATATATATCATATATA TCATATCATATGATATATATCATATATATCATATATATCATATATGATAT ATATCATATATATCATATATGATATATATCATATATGATATATATCATAT AT	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	3/9			chr3	TogoVar
FOXJ3_chr1_42171548_42340235	42222036	G G	GGAGGAGG others(619): Show GGAGGAGGAGGAGGAGGAGAGGAGGAGGAGGAGGAGAAGGAGGAGGAGGA GGAGAAGGAGGAAGAAGGGAGGAGAAGAAGAGGAGAAGGAGAGAGAAGGA GGAGAAGGAGGAGAAGGAGGAGAGAAAGGAGGGAGAAGGAGGAGAAGGAG GAGAGAGGAGGAGAAGGAGGAGAAGGGAGGAGAAGGAGGAGAAGGAGGAG AAGGAGGAGAAGGAGGAGAAGGAGGAGAAGGAGGAGAAGGAGGAGAAGGA GGAGAAGGAGGAGAAGAGAGAAGGAGGAGAAGGAGGAAGAAGGAAGAGAA GAAGAAGAAAGAAGAAAGAAAGAAGAAAGAAGAAAGAAGAAGAAGAAAGA AGAAAGAAGAAAGAAGAAAAGAAGAAAGAAGAAAGAAGAAAGAAGAAAGA AGAAAGAAGAAGAGGAAGAAAGAAGAAAGAAGAAAGAGAAGAAAGAAGAA AGAAGAAAGAAGAAAGAAGAAAGAAGAAAAGAAGAAAGAAGAAAAGAAGA AAGAAGAAAGAAAGAAAGAAGGAAAGAAGAAAGAAAGAAGAAAGAAGAAG AGAAGAAGAAAGAAGAAAGAAGAAAGAAGAAAGAAGAGAAGAAAGAAGAA AGAAGAAAGAAGAAAGAAGAAAGAAGA	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0299 a0001c0001t0002g0299	1	329	0.0030	626	c.528 others(643): Show c.528+5846_528+5847insTCTTCTTTCTTCTTTCTTCTTTCTTCTT TCTTCTTTCTTCTCTTCTTTCTTCTTTCTTCTTTCTTCTTTCTTCTTCTC TTCTTCTTTCTTCTTTCTTTCTTCTTTCCTTCTTTCTTTCTTTCTTCTTT CTTCTTTTCTTCTTTCTTCTTTTCTTCTTTCTTCTTTCTTCTTTCTTCTT TCTTCTTTCTTCTCTTTCTTCTTTCTTCTTTCTTCCTCTTCTTCTTTCTT CTTTCTTCTTTCTTCTTTCTTCTTTCTTCTTTTCTTCTTTCTTCTTTCTT CTTTCTTCTTCTTCTTTCTTCTTTCTTCTTTCTTTCTTCTTTCTTCTTCT TCTCTTCCTTCTTCCTCCTTCTCCTCCTTCTCTCTTCTCCTCCTTCTCCT CCTTCTCCTCCTTCTCCTCCTTCTCCTCCTTCTCCTCCTTCTCCTCCTTC TCCTCCTTCTCCTCCTTCTCCTCCCTTCTCCTCCTTCTCCTCCTCTCTCC TCCTTCTCCTCCTTCTCCCTCCTTTCTCTCCTCCTTCTCCTCCTTCTCCT CCTTCTCTCTCCTTCTCCTCTTCTTCTCCTCCCTTCTTCCTCCTTCTCCT CCTCCTCCTCCTTCTCCTCCTCCTCCTCCTCTCCTCCTCCTCCTCCTC	FOXJ3	ENSG00000198815.9	transcript	ENST00000361346.6	protein_coding	5/12			chr1	TogoVar
GALNT17_chr7_71127144_71718599	71680450	C C	CCCTCCCT others(619): Show CCCTCCCTTTCTTCCTCCCTCCTCTCTCCTTCCTCCCTCCCTCTCTTCCT CCCTCCCTCTCTCTTCCTCCCTCCCACTCTCCCTTCCTCCCTCCTCTCTC CCTTCCTCCCTCCCTTCTTCCTCCCTCCCCTCTCTCCCTTCCTCCCTCCC TCTCTCTCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTTCCTCCCTCCCT CTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTTCCTCC CTCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTT CCTCCCTCCCTCTCTCCTTCCTCCCTCCCTCTCTTCCTCCCTCCCTCTCT CCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTTCCTCCCTCCC TCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTTCCTC CCTCCCTCTCTCCCTTCCTCCCTCCTCTCTCCCTCCCCCCTCCCTCCTTC CTCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTTCCTCCTCCCTCTCTCC CTTCCTCCCTCCCTCTCTCCTTCCTCCCTCCCTCTCTTCCTCCCTCCCTC TCTCCCTTCCTCCCTCCTCTCTCCCTT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0019	1	76	0.0132	626	c.150 others(645): Show c.1500+3151_1500+3152insTTCTTCCTCCCTCCTCTCTCCTTCCT CCCTCCCTCTCTTCCTCCCTCCCTCTCTCTTCCTCCCTCCCACTCTCCCT TCCTCCCTCCTCTCTCCCTTCCTCCCTCCCTTCTTCCTCCCTCCCCTCTC TCCCTTCCTCCCTCCCTCTCTCTCCTCCCTCTCTCCCTTCCTCCCTCCCT CTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCC CTCCCTCTCTTCCTCCCTCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTT CCTCCCTCCCTCTCTTCCTCCCTCCCTCTCTCCTTCCTCCCTCCCTCTCT TCCTCCCTCCCTCTCTCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCC TCTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTC CCTCCCTCTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCTCTCTCCCT CCCCCCTCCCTCCTTCCTCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTT CCTCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCTTCCTCCCTCCCTC TCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCTCTCTCCCTTCCTCCCT	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GNG13_chr16_793041_805734	795593	T T	TGCTGCCC others(619): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGC TGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTGC CCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGGC CCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCC CGTGCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCC CCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGC CCCGCCCCTCCCCTCCCCCCCCCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	8	0.1250	626	c.31 others(637): Show c.3125_*3126insGCGGGGGGGGGGGAGGGGAGGGGCGGGGCGGGGC GGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACG GGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGG GCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGGCACGGGGCCGG GGGCAGCCACACGGGCAGTGTGTTTGGGGGGGAGGGGCACGGGGCCGGGG GCAGCCACACGGGCAGCACAGGGGGGCGGGCACGGGGCCGGGGGCAGCCA CACGGGCAGTGTGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACAC GGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGG GCAGTGTGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCA GTGTGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTG TGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTG GTTGGGGGGGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGTTT GGGGGGGAGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGC	GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding		2447		chr16	TogoVar
GNG13_chr16_793041_805734	795593	T T	TGCTGCCC others(619): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGC TGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTGC CCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGGC CCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCC CGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCC CCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCG CCCCGCCCCTCCCCTCCCCCCCCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	8	0.1250	626	c.31 others(637): Show c.3125_*3126insGCGGGGGGGGGGAGGGGAGGGGCGGGGCGGGGCG GCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGG GGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGG CCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGGGCACGGGGCCGG GGGCAGCCACACGGGCAGTGTGTTTGGGGGGGAGGGGCACGGGGCCGGGG GCAGCCACACGGGCAGCACAGGGGGGCGGGCACGGGGCCGGGGGCAGCCA CACGGGCAGTGTGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACAC GGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGG GCAGTGTGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCA GTGTGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTG TGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTG GTTGGGGGGGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGTTT GGGGGGGAGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGC	GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding		2447		chr16	TogoVar
GNG13_chr16_793041_805734	795593	T T	TGCTGCCC others(619): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCCAACCACACT GCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGT GGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCC CGGCCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCG GCCCCGTGCCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCC CCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCC GTGCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCC CCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGC CCCGCCCCTCCCCTCCCCCCCCCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	8	0.1250	626	c.31 others(637): Show c.3125_*3126insGCGGGGGGGGGGGAGGGGAGGGGCGGGGCGGGGC GGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACG GGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGGGGCCG GGGGCAGCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGG GGCAGCCACACGGGCAGTGTGGTTGGGGGGGGGGGCACGGGGCCGGGGGC AGCCACACGGGCAGTGTGTTTGGGGGGGAGGGGCACGGGGCCGGGGGCAG CCACACGGGCAGCACAGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACG GGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGG CAGTGTGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAG TGTGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGT GGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGG TTGGGGGGGGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGTTT GGGGGGGAGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGC	GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding		2447		chr16	TogoVar
JAKMIP3_chr10_132060946_132189858	132173126	C C	CTCTCTCT others(619): Show CTCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCCT CCTTCCCTCTCTCTCTCTCCCCCTCCCCTCCCCCTCTCTCTCCCCCTCCC CCTCTCTCTCCCCCTCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCC CTCCCCCCTCCCCCTCTCTCCCCTCCCCCTCCCCTCTCTCCCCCTCCCCC CCTCCCCCTCCCCCTCCCCCCTCCCCCCCCTCTCCCCCTCCCCTCCCCCC TCTCTCTCCCCCTCTCTCTCCCCCTTCCCTCCCCCCTCTCCCCCTCCTCC TCCCCCCTCCCCCTCCCCCCATCCCCCTCCCCCGTCCCCCTCCCCCTCCC CCTCCCCCTCCCCCATCCCCATCCCCCTCCTTCCCTCTCCCCCTCCCCCA TCCCCATCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCCCTCTCCCCC TCCCCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTCCCCCCTCCTTC CCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCCCCCCCTCCTTCCC TCTCTCTCTCTCCCCCCCTCCTTCCCTCTGTCTCTCTCCCCCCCTTCCCT CTCTCTCTCTCCCCCTCCTTCCCCCTG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0003 a0002c0008t0003	a0002c0008t0003g0010 a0002c0008t0003g0010	1	56	0.0179	626	c.11 others(647): Show c.1103+4110_*1103+4111insCCCTCCTTCCCTCTCTCTCTCCCC CTCCCCCTCCTTCCCTCTCTCTCTCTCCCCCTCCCCTCCCCCTCTCTCTC CCCCTCCCCCTCTCTCTCCCCCTCCCCCTCTCTCTCCCCCTCCCCCCTCT CTCTCCCCCTCCCCCCTCCCCCTCTCTCCCCTCCCCCTCCCCTCTCTCCC CCTCCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCCCCTCTCCCCCTCCC CTCCCCCCTCTCTCTCCCCCTCTCTCTCCCCCTTCCCTCCCCCCTCTCCC CCTCCTCCTCCCCCCTCCCCCTCCCCCCATCCCCCTCCCCCGTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCATCCCCATCCCCCTCCTTCCCTCTCCCC CTCCCCCATCCCCATCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCCC TCTCCCCCTCCCCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTCCCC CCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCCCCCCC TCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTGTCTCTCTCCCCC CCTTCCCTCTCTCTCTCTCCCCCTCCTTCCCCCTGTCTCTCTCTCCCCCT CC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
KIF1A_chr2_240708767_240825219	240812880	G G	GGGATCCG others(619): Show GGGATCCGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCCGCCTT CACCTCGGGGATCCGCCTTCACCTCGGAGATCTGCCTTCACCTCGGGGAT CCGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCTGCCTTCACCT CAAGGATCCGCCTTCACCTCAAGGATCCACCTTCACCTCAGGGATCAGCC TTCACCTCGAGATCCACCTTCACCTCAGGCAGGGATCAGCCTTCACCTCA GGGATCTGCCTTCACCTCGGGGATCCGCCTTCACCTCAGGATCTGCCTTC ACCTCTGGGTCCGCCTTCACCTCAAGATCCACCTTCACCTCAGGGATCAG CCTTCACCTCGGGGATCTGCCTTCACCTCGGGGATCAGCCATCACTCGGG GATCCGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCCGCCTTCA CCTCGGGGATCAGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCC GCCTTCACCTCGGGGATCTGCCTTCACCTCGGGGATCCGCCTTCACCTCA AGGATCCGCCTTCACCTCGGGGATCAGCCTTCACCTCGGGGATCCGCCTT CACCTCGGGGATCAGCCTTCACCTCAA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0168 a0001c0004t0004g0168	1	315	0.0032	626	c.-61 others(643): Show c.-61+7241_-61+7242insTTGAGGTGAAGGCTGATCCCCGAGGTGA AGGCGGATCCCCGAGGTGAAGGCTGATCCCCGAGGTGAAGGCGGATCCTT GAGGTGAAGGCGGATCCCCGAGGTGAAGGCAGATCCCCGAGGTGAAGGCG GATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCTGATCCCCGAGGT GAAGGCGGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCGGATCC CCGAGTGATGGCTGATCCCCGAGGTGAAGGCAGATCCCCGAGGTGAAGGC TGATCCCTGAGGTGAAGGTGGATCTTGAGGTGAAGGCGGACCCAGAGGTG AAGGCAGATCCTGAGGTGAAGGCGGATCCCCGAGGTGAAGGCAGATCCCT GAGGTGAAGGCTGATCCCTGCCTGAGGTGAAGGTGGATCTCGAGGTGAAG GCTGATCCCTGAGGTGAAGGTGGATCCTTGAGGTGAAGGCGGATCCTTGA GGTGAAGGCAGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCGGA TCCCCGAGGTGAAGGCAGATCTCCGAGGTGAAGGCGGATCCCCGAGGTGA AGGCGGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCGGATCC	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	1/48			chr2	TogoVar
KIF1A_chr2_240708767_240825219	240812880	G G	GGGATCCG others(619): Show GGGATCCGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCCGCCTT CACCTCGGGGATCCGCCTTCACCTCGGAGATCTGCCTTCACCTCGGGGAT CCGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCTGCCTTCACCT CAAGGATCCGCCTTCACCTCAAGGATCCACCTTCACCTCAGGGATCAGCC TTCACCTCGAGATCCACCTTCACCTCAGGCAGGGATCAGCCTTCACCTCA GGGATCTGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGATCTGCCTTC ACCTCTGGGTCCGCCTTCACCTCAAGATCCACCTTCACCTCAGGGATCAG CCTTCACCTCGGGGATCTGCCTTCACCTCGGGGATCAGCCATCACTCGGG GATCCGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCCGCCTTCA CCTCGGGGATCAGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCC GCCTTCACCTCGGGGATCTGCCTTCACCTCGGGGATCCGCCTTCACCTCA AGGATCCGCCTTCACCTCGGGGATCAGCCTTCACCTCGGGGATCCGCCTT CACCTCGGGGATCAGCCTTCACCTCAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02559.hp2 HG02723.hp2 others(5): Show HG02258.hp1 HG02559.hp2 HG02723.hp2 HG02970.hp1 HG03130.hp1 HG03225.hp1 HG03579.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0015 a0001c0016 a0001c0022 others(3): Show a0001c0015 a0001c0016 a0001c0022 a0001c0049 a0001c0050 a0002c0029	a0001c0015t0004 a0001c0015t0009 a0001c0016t0007 others(5): Show a0001c0015t0004 a0001c0015t0009 a0001c0016t0007 a0001c0022t0004 a0001c0022t0007 a0001c0049t0022 a0001c0050t0005 a0002c0029t0029	a0001c0015t0004g0157 a0001c0015t0009g0158 a0001c0016t0007g0163 others(5): Show a0001c0015t0004g0157 a0001c0015t0009g0158 a0001c0016t0007g0163 a0001c0022t0004g0159 a0001c0022t0007g0162 a0001c0049t0022g0160 a0001c0050t0005g0164 a0002c0029t0029g0161	8	322	0.0248	626	c.-61 others(643): Show c.-61+7241_-61+7242insTTGAGGTGAAGGCTGATCCCCGAGGTGA AGGCGGATCCCCGAGGTGAAGGCTGATCCCCGAGGTGAAGGCGGATCCTT GAGGTGAAGGCGGATCCCCGAGGTGAAGGCAGATCCCCGAGGTGAAGGCG GATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCTGATCCCCGAGGT GAAGGCGGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCGGATCC CCGAGTGATGGCTGATCCCCGAGGTGAAGGCAGATCCCCGAGGTGAAGGC TGATCCCTGAGGTGAAGGTGGATCTTGAGGTGAAGGCGGACCCAGAGGTG AAGGCAGATCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCAGATCCCT GAGGTGAAGGCTGATCCCTGCCTGAGGTGAAGGTGGATCTCGAGGTGAAG GCTGATCCCTGAGGTGAAGGTGGATCCTTGAGGTGAAGGCGGATCCTTGA GGTGAAGGCAGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCGGA TCCCCGAGGTGAAGGCAGATCTCCGAGGTGAAGGCGGATCCCCGAGGTGA AGGCGGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCGGATCC	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	1/48			chr2	TogoVar
KIF1A_chr2_240708767_240825219	240812880	G G	GGGATCCG others(619): Show GGGATCCGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCCGCCTT CACCTCGGGGATCCGCCTTCACCTCGGAGATCTGCCTTCACCTCGGGGAT CCGCCTTCACCTCGGGGATCTGCCTTCACCTCGGGGATCTGCCTTCACCT CAAGGATCCGCCTTCACCTCAAGGATCCACCTTCACCTCAGGGATCAGCC TTCACCTCGAGATCCACCTTCACCTCAGGCAGGGATCAGCCTTCACCTCA GGGATCTGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGATCTGCCTTC ACCTCTGGGTCCGCCTTCACCTCAAGATCCACCTTCACCTCAGGGATCAG CCTTCACCTCGGGGATCTGCCTTCACCTCGGGGATCAGCCATCACTCGGG GATCCGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCCGCCTTCA CCTCGGGGATCAGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCC GCCTTCACCTCGGGGATCTGCCTTCACCTCGGGGATCCGCCTTCACCTCA AGGATCCGCCTTCACCTCGGGGATCAGCCTTCACCTCGGGGATCCGCCTT CACCTCGGGGATCAGCCTTCACCTCAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03098.hp1 HG03195.hp2 others(1): Show HG01243.hp2 HG03098.hp1 HG03195.hp2 NA19240.hp1	a0001 a0001	a0001c0006 a0001c0018 a0001c0031 others(1): Show a0001c0006 a0001c0018 a0001c0031 a0001c0044	a0001c0006t0043 a0001c0018t0010 a0001c0031t0013 others(1): Show a0001c0006t0043 a0001c0018t0010 a0001c0031t0013 a0001c0044t0028	a0001c0006t0043g0061 a0001c0018t0010g0146 a0001c0031t0013g0145 others(1): Show a0001c0006t0043g0061 a0001c0018t0010g0146 a0001c0031t0013g0145 a0001c0044t0028g0144	4	318	0.0126	626	c.-61 others(643): Show c.-61+7241_-61+7242insTTGAGGTGAAGGCTGATCCCCGAGGTGA AGGCGGATCCCCGAGGTGAAGGCTGATCCCCGAGGTGAAGGCGGATCCTT GAGGTGAAGGCGGATCCCCGAGGTGAAGGCAGATCCCCGAGGTGAAGGCG GATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCTGATCCCCGAGGT GAAGGCGGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCGGATCC CCGAGTGATGGCTGATCCCCGAGGTGAAGGCAGATCCCCGAGGTGAAGGC TGATCCCTGAGGTGAAGGTGGATCTTGAGGTGAAGGCGGACCCAGAGGTG AAGGCAGATCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCAGATCCCT GAGGTGAAGGCTGATCCCTGCCTGAGGTGAAGGTGGATCTCGAGGTGAAG GCTGATCCCTGAGGTGAAGGTGGATCCTTGAGGTGAAGGCGGATCCTTGA GGTGAAGGCAGATCCCCGAGGTGAAGGCAGATCCCCGAGGTGAAGGCGGA TCCCCGAGGTGAAGGCAGATCTCCGAGGTGAAGGCGGATCCCCGAGGTGA AGGCGGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCGGATCC	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	1/48			chr2	TogoVar
KIF1A_chr2_240708767_240825219	240812899	G G	GGGATCCG others(619): Show GGGATCCGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCAGCCTT CACCTCGGGGATCCGCCTTCACCTCGGGGATCCGCCTTCACCTCGGAGAT CTGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCCGCCTTCACCT CGGGGATCTGCCTTCACCTCAAGGATCCGCCTTCACCTCAAGGATCCACC TTCACCTCAGGGATCAGCCTTCACCTCGAGATCCACCTTCACCTCAGGCA GGGATCAGCCTTCACCTCAGGGATCTGCCTTCACCTCGGGGATCCGCCTT CACCTCGGGATCTGCCTTCACCTCTGGGTCCGCCTTCACCTCAAGATCCA CCTTCACCTCAGGGATCAGCCTTCACCTCGGGGATCTGCCTTCACCTCGG GGATCAGCCATCACTCGGGGATCCGCCTTCACCTCGGGGATCCGCCTTCA CCTCGGGGATCCGCCTTCACCTCGGGGATCAGCCTTCACCTCGGGGATCC GCCTTCACCTCGGGGATCTGCCTTCACCTCGGGGATCCGCCTTCACCTCA AGGATCCGCCTTCACCTCGGGGATCAGCCTTCACCTCGGGGATCCGCCTT CACCTCGGGGATCAGCCTTCACCTCAA	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02735.hp1 HG03654.hp1 others(1): Show HG02683.hp1 HG02735.hp1 HG03654.hp1 HG03927.hp1	a0001 a0001	a0001c0006 a0001c0019 a0001c0027 a0001c0006 a0001c0019 a0001c0027	a0001c0006t0007 a0001c0019t0001 a0001c0019t0032 others(1): Show a0001c0006t0007 a0001c0019t0001 a0001c0019t0032 a0001c0027t0001	a0001c0006t0007g0174 a0001c0019t0001g0221 a0001c0019t0032g0220 others(1): Show a0001c0006t0007g0174 a0001c0019t0001g0221 a0001c0019t0032g0220 a0001c0027t0001g0222	4	284	0.0141	626	c.-61 others(643): Show c.-61+7222_-61+7223insTTGAGGTGAAGGCTGATCCCCGAGGTGA AGGCGGATCCCCGAGGTGAAGGCTGATCCCCGAGGTGAAGGCGGATCCTT GAGGTGAAGGCGGATCCCCGAGGTGAAGGCAGATCCCCGAGGTGAAGGCG GATCCCCGAGGTGAAGGCTGATCCCCGAGGTGAAGGCGGATCCCCGAGGT GAAGGCGGATCCCCGAGGTGAAGGCGGATCCCCGAGTGATGGCTGATCCC CGAGGTGAAGGCAGATCCCCGAGGTGAAGGCTGATCCCTGAGGTGAAGGT GGATCTTGAGGTGAAGGCGGACCCAGAGGTGAAGGCAGATCCCGAGGTGA AGGCGGATCCCCGAGGTGAAGGCAGATCCCTGAGGTGAAGGCTGATCCCT GCCTGAGGTGAAGGTGGATCTCGAGGTGAAGGCTGATCCCTGAGGTGAAG GTGGATCCTTGAGGTGAAGGCGGATCCTTGAGGTGAAGGCAGATCCCCGA GGTGAAGGCGGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCAGA TCTCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGA AGGCTGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCGGATCC	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	1/48			chr2	TogoVar
KIF1A_chr2_240708767_240825219	240812899	G G	GGGATCCG others(619): Show GGGATCCGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCCGCCTT CACCTCGGGGATCCGCCTTCACCTCGGGGATCCGCCTTCACCTCGGAGAT CTGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCCGCCTTCACCT CGGGGATCTGCCTTCACCTCAAGGATCCGCCTTCACCTCAAGGATCCACC TTCACCTCAGGGATCAGCCTTCACCTCGAGATCCACCTTCACCTCAGGCA GGGATCAGCCTTCACCTCAGGGATCTGCCTTCACCTCGGGGATCCGCCTT CACCTCGGGATCTGCCTTCACCTCTGGGTCCGCCTTCACCTCAAGATCCA CCTTCACCTCAGGGATCAGCCTTCACCTCGGGGATCTGCCTTCACCTCGG GGATCAGCCATCACTCGGGGATCCGCCTTCACCTCGGGGATCCGCCTTCA CCTCGGGGATCCGCCTTCACCTCGGGGATCAGCCTTCACCTCGGGGATCC GCCTTCACCTCGGGGATCTGCCTTCACCTCGGGGATCCGCCTTCACCTCA AGGATCCGCCTTCACCTCGGGGATCAGCCTTCACCTCGGGGATCCGCCTT CACCTCGGGGATCAGCCTTCACCTCAA	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0188 a0001c0003t0001g0188	1	281	0.0036	626	c.-61 others(643): Show c.-61+7222_-61+7223insTTGAGGTGAAGGCTGATCCCCGAGGTGA AGGCGGATCCCCGAGGTGAAGGCTGATCCCCGAGGTGAAGGCGGATCCTT GAGGTGAAGGCGGATCCCCGAGGTGAAGGCAGATCCCCGAGGTGAAGGCG GATCCCCGAGGTGAAGGCTGATCCCCGAGGTGAAGGCGGATCCCCGAGGT GAAGGCGGATCCCCGAGGTGAAGGCGGATCCCCGAGTGATGGCTGATCCC CGAGGTGAAGGCAGATCCCCGAGGTGAAGGCTGATCCCTGAGGTGAAGGT GGATCTTGAGGTGAAGGCGGACCCAGAGGTGAAGGCAGATCCCGAGGTGA AGGCGGATCCCCGAGGTGAAGGCAGATCCCTGAGGTGAAGGCTGATCCCT GCCTGAGGTGAAGGTGGATCTCGAGGTGAAGGCTGATCCCTGAGGTGAAG GTGGATCCTTGAGGTGAAGGCGGATCCTTGAGGTGAAGGCAGATCCCCGA GGTGAAGGCGGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCAGA TCTCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGA AGGCGGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCGGATCC	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	1/48			chr2	TogoVar
KIF1A_chr2_240708767_240825219	240812943	C C	CGCCTTCA others(619): Show CGCCTTCACCTCGGAGATCTGCCTTCACCTCGGGGATCCGCCTTCACCTC GGGGATCCGCCTTCACCTCGGGGATCTGCCTTCACCTCAAGGATCCGCCT TCACCTCAAGGATCCACCTTCACCTCAGGGATCAGCCTTCACCTCGAGAT CCACCTTCACCTCAGGCAGGGATCAGCCTTCACCTCAGGGATCTGCCTTC ACCTCGGGGATCCGCCTTCACCTCAGGATCTGCCTTCACCTCTGGGTCCG CCTTCACCTCAAGATCCACCTTCACCTCAGGGATCAGCCTTCACCTCGGG GATCTGCCTTCACCTCGGGGATCAGCCATCACTCGGGGATCCGCCTTCAC CTCGGGGATCCGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCAG CCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCCGCCTTCACCTCGG GGATCTGCCTTCACCTCGGGGATCCGCCTTCACCTCAAGGATCCGCCTTC ACCTCGGGGATCAGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATC AGCCTTCACCTCAAGGATCCGCCTTCACCTCGGGGATCCGCCTTCACCTC GGGGATCCGCCTTCACCTCGGGGATCT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02717.hp2 HG01261.hp1 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0038 a0001c0001t0033 a0001c0001t0038	a0001c0001t0033g0167 a0001c0001t0038g0166 a0001c0001t0033g0167 a0001c0001t0038g0166	2	328	0.0061	626	c.-61 others(643): Show c.-61+7178_-61+7179insAGATCCCCGAGGTGAAGGCGGATCCCCG AGGTGAAGGCGGATCCCCGAGGTGAAGGCGGATCCTTGAGGTGAAGGCTG ATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCTGATCCCCGAGGTG AAGGCGGATCCTTGAGGTGAAGGCGGATCCCCGAGGTGAAGGCAGATCCC CGAGGTGAAGGCGGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGC TGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCGGATCCCCGAGG TGAAGGCGGATCCCCGAGTGATGGCTGATCCCCGAGGTGAAGGCAGATCC CCGAGGTGAAGGCTGATCCCTGAGGTGAAGGTGGATCTTGAGGTGAAGGC GGACCCAGAGGTGAAGGCAGATCCTGAGGTGAAGGCGGATCCCCGAGGTG AAGGCAGATCCCTGAGGTGAAGGCTGATCCCTGCCTGAGGTGAAGGTGGA TCTCGAGGTGAAGGCTGATCCCTGAGGTGAAGGTGGATCCTTGAGGTGAA GGCGGATCCTTGAGGTGAAGGCAGATCCCCGAGGTGAAGGCGGATCCCCG AGGTGAAGGCGGATCCCCGAGGTGAAGGCAGATCTCCGAGGTGAAGGC	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	1/48			chr2	TogoVar
LAMC1_chr1_183018420_183150592	183150076	C C	CCTCACAC others(619): Show CCTCACACACCACACAGCTCACATCCCTCTCCTCACACACCACACAGCCC ACACCCCTGTCCTCCTCACACACCACACAGCCCACACCCCTCCTCACACA CCACACAGCTCACACCCCTCTCCTGCTCACACACCACACAGCCCACACCC CTCTCCTCCTCACACACCACACAGCTCACACCCCTCTCCTCACACACCAC ACAGCCCACACCCCTCTCCTCACACACCAGACAGCTCACACCCCTCTCCT CCTCACACACCACACAGCTCACACCCCTCTCCTCCTCACACACCACACAG CTCACACCCCTCTCCTGCTCACACACCACACAGCTCACACCCCTCTCCTC ACACACCACACAGCTCACACCCCTCTCCTGCTCACACACCACACAGCTCA CACCCCTCTCCTCACACACCACACAGCCCACACCCCTCTCCTCCTCACAC ACCACACAGCTCACACCCCTCTCCTCACACACCACACAGCCCACACCCCT CTCCTCCTCACACACCACACAGCTCACACCCCTCTCCTCACACACCACAC AGCCCACACCCCTCTCCTCACACACCAGACAGCTCACACCCCTCCTCCTC ACACACCACACAGCCCACACCCCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0020 a0001c0002t0002g0020	1	302	0.0033	626	c.72 others(637): Show c.7286_*7287insCTCACACACCACACAGCTCACATCCCTCTCCTCA CACACCACACAGCCCACACCCCTGTCCTCCTCACACACCACACAGCCCAC ACCCCTCCTCACACACCACACAGCTCACACCCCTCTCCTGCTCACACACC ACACAGCCCACACCCCTCTCCTCCTCACACACCACACAGCTCACACCCCT CTCCTCACACACCACACAGCCCACACCCCTCTCCTCACACACCAGACAGC TCACACCCCTCTCCTCCTCACACACCACACAGCTCACACCCCTCTCCTCC TCACACACCACACAGCTCACACCCCTCTCCTGCTCACACACCACACAGCT CACACCCCTCTCCTCACACACCACACAGCTCACACCCCTCTCCTGCTCAC ACACCACACAGCTCACACCCCTCTCCTCACACACCACACAGCCCACACCC CTCTCCTCCTCACACACCACACAGCTCACACCCCTCTCCTCACACACCAC ACAGCCCACACCCCTCTCCTCCTCACACACCACACAGCTCACACCCCTCT CCTCACACACCACACAGCCCACACCCCTCTCCTCACACACCAGACAGCTC ACACCCCTCCTCCTCACACACCACACAGCCCACACCCCTCTC	LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding		4485		chr1	TogoVar
LGR6_chr1_202188799_202324761	202205249	C C	CACACACA others(619): Show CACACACACACCTCCAAACACACACACACCTAGCACACACTCCTCCACAC ACACACACACCTAACACACACCTCCTTCAAACGCACACACACCTCCAAAC ACACATGCACCTCCAAACACACACACACACCTCCAAACACACATACACCT CCAAACACACACACCTAACACACACCTCCTTCAAACACACACACCTCCAA ACACACACACATCTAACACACACACCCCTCCTTCAAACACACACACACCT CCAAAGACACACACACACCTATCACACCTTCAAACACACACACACCTAAC ACAGACCTCCAAACACACACACACCTCCAAACACACACACACCTAACACA CACACACCTATCACACACCTCCTTCAAACACACACACCTAACACACCCGT CCTTCAAACACACACACACACCACACACATCTAACACCTCCTTCAGACAC ACACCTCCAAACACACACACACCTTACACACACCTTCAAACACACACACA CCTCCACACACACACCTAACACACACCTCCTTCAAACACACACACCTCCA AACACACACACCTAACACACACCTCCTTCAAACACACACACCTCCAAACA CACACACCTAACACACACCTCCTTCAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00741.hp2 HG01256.hp1 others(9): Show HG00408.hp1 HG00741.hp2 HG01256.hp1 HG01361.hp1 HG01891.hp1 HG02155.hp1 HG02486.hp2 HG03225.hp2 HG03516.hp2 HG03688.hp2 NA19068.hp2 NA20129.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0002c0002 a0003c0004 others(4): Show a0001c0001 a0002c0002 a0003c0004 a0003c0031 a0004c0003 a0005c0010 a0006c0009	a0001c0001t0001 a0002c0002t0002 a0003c0004t0001 others(4): Show a0001c0001t0001 a0002c0002t0002 a0003c0004t0001 a0003c0031t0001 a0004c0003t0003 a0005c0010t0001 a0006c0009t0004	a0001c0001t0001g0102 a0001c0001t0001g0137 a0001c0001t0001g0163 others(9): Show a0001c0001t0001g0102 a0001c0001t0001g0137 a0001c0001t0001g0163 a0002c0002t0002g0138 a0002c0002t0002g0165 a0003c0004t0001g0109 a0003c0004t0001g0164 a0003c0031t0001g0136 a0004c0003t0003g0052 a0005c0010t0001g0103 a0006c0009t0004g0017 a0006c0009t0004g0018	12	220	0.0545	626	c.212 others(645): Show c.212+11058_212+11059insCTCCAAACACACACACACCTAGCACA CACTCCTCCACACACACACACACCTAACACACACCTCCTTCAAACGCACA CACACCTCCAAACACACATGCACCTCCAAACACACACACACACCTCCAAA CACACATACACCTCCAAACACACACACCTAACACACACCTCCTTCAAACA CACACACCTCCAAACACACACACATCTAACACACACACCCCTCCTTCAAA CACACACACACCTCCAAAGACACACACACACCTATCACACCTTCAAACAC ACACACACCTAACACAGACCTCCAAACACACACACACCTCCAAACACACA CACACCTAACACACACACACCTATCACACACCTCCTTCAAACACACACAC CTAACACACCCGTCCTTCAAACACACACACACACCACACACATCTAACAC CTCCTTCAGACACACACCTCCAAACACACACACACCTTACACACACCTTC AAACACACACACACCTCCACACACACACCTAACACACACCTCCTTCAAAC ACACACACCTCCAAACACACACACCTAACACACACCTCCTTCAAACACAC ACACCTCCAAACACACACACCTAACACACACCTCCTTCAAACACACACAC	LGR6	ENSG00000133067.18	transcript	ENST00000367278.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
LOC128092252_chr15_50643802_50691717	50679477	T T	TATATATA others(619): Show TATATATATATTATATATATGTGTATATATATAATATATATATATATTAT ATATATGTGTATATATATAATATATATATATATTATATATATGTGTATAT ATATAATATATATATATATTATATATATGTGTATATATATAATATATATA TATATTATATATATGTGTATATATATAATATATATATATTATATATATGT GTATATATATAATATATATATATATTATATATATGTGTATATATATAATA TATATATATTATATATATGTGTATATATATAATATATATATATTATATAT ATGTGTATATATATAATATATATATATATTATATATATGTGTATATATAT AATATATATATATATTATATATATGTGTATATATATAATATATATATATT ATATATATGTGTATATATATAATATATATATATTATATATATGTGTATAT ATATAATATATATATATTATATATATGTGTATATATATAATATATATATA TTATATATATGTGTATATATATAATATATATATATTATATATATGTGTAT ATATATAATATATATATATATTATATATATGTGTATATATATAATATATA TATATTATATATATGTGTATATATATA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	383	0.0026	626	c.187 others(643): Show c.187+7053_187+7054insTATATATATACACATATATATAATATAT ATATATTATATATATACACATATATATAATATATATATATATTATATATA TACACATATATATAATATATATATATTATATATATACACATATATATAAT ATATATATATTATATATATACACATATATATAATATATATATATTATATA TATACACATATATATAATATATATATATTATATATATACACATATATATA ATATATATATATTATATATATACACATATATATAATATATATATATATTA TATATATACACATATATATAATATATATATATATTATATATATACACATA TATATAATATATATATATTATATATATACACATATATATAATATATATAT ATTATATATATACACATATATATAATATATATATATATTATATATATACA CATATATATAATATATATATATTATATATATACACATATATATAATATAT ATATATATTATATATATACACATATATATAATATATATATATATTATATA TATACACATATATATAATATATATATATATTATATATATACACATATATA TAATATATATATATATTATATATATACACATATATATAATATATATAT	LOC128092252	ENSG00000288645.1	transcript	ENST00000676296.1	protein_coding	1/3			chr15	TogoVar
LOC128092252_chr15_50643802_50691717	50679477	T T	TATATATA others(619): Show TATATATATATTATATATATGTGTATATATATAATATATATATATATTAT ATATATGTGTATATATATAATATATATATATTATATATATGTGTATATAT ATAATATATATATATTATATATATGTGTATATATATAATATATATATATA TTATATATATGTGTATATATATAATATATATATATATTATATATATGTGT ATATATATAATATATATATATATTATATATATGTGTATATATATAATATA TATATATATTATATATATGTGTATATATATAATATATATATATATTATAT ATATGTGTATATATATAATATATATATATATTATATATATGTGTATATAT ATAATATATATATATTATATATATGTGTATATATATAATATATATATATT ATATATATGTGTATATATATAATATATATATATTATATATATGTGTATAT ATATAATATATATATTATATATATGTGTATATATATAATATATATATATA TTATATATATGTGTATATATATAATATATATATATATTATATATATGTGT ATATATATAATATATATATATTATATATATGTGTATATATATAATATATA TATATTATATATATGTGTATATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	383	0.0026	626	c.187 others(643): Show c.187+7053_187+7054insTATATATATACACATATATATAATATAT ATATATTATATATATACACATATATATAATATATATATATTATATATATA CACATATATATAATATATATATATATTATATATATACACATATATATAAT ATATATATATATTATATATATACACATATATATAATATATATATTATATA TATACACATATATATAATATATATATATTATATATATACACATATATATA ATATATATATATTATATATATACACATATATATAATATATATATATTATA TATATACACATATATATAATATATATATATATTATATATATACACATATA TATAATATATATATATATTATATATATACACATATATATAATATATATAT ATATTATATATATACACATATATATAATATATATATATATTATATATATA CACATATATATAATATATATATATATTATATATATACACATATATATAAT ATATATATATATTATATATATACACATATATATAATATATATATATTATA TATATACACATATATATAATATATATATATTATATATATACACATATATA TAATATATATATATATTATATATATACACATATATATAATATATATAT	LOC128092252	ENSG00000288645.1	transcript	ENST00000676296.1	protein_coding	1/3			chr15	TogoVar

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