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
FLACC1_chr2_201283271_201362345	201284695	G G	GGGGAGAG others(351): Show GGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGG AGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAG GGAGAGGGAGAGGGAGACGGGAGACGGGGAGAGGGAGAGGGAGACGGGGA GAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGG GAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGA GGGAGACGGGGAGAGGGAGAGGGAGGCGGGGAGAGGGAGAGGGAGACGGG GAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGAGAGGGAGAGGG AGAGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0068 a0001c0001t0008g0068	1	370	0.0027	358	c.39 others(369): Show c.3959_*3960insTCTCCCTCTCCCTCTCCCTCTCGTCTCCCTCTCC CTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGC CTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCC CTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCT CCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCC GTCTCCCGTCTCCCTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTC CCCGTCTCCCTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCG TCTCCCTCTCCCTCTCCCTCTCCC	FLACC1	ENSG00000155749.13	transcript	ENST00000392257.8	protein_coding		3575		chr2	TogoVar
FLACC1_chr2_201283271_201362345	201284695	G G	GGGGAGAG others(351): Show GGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGG AGAGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGG AGACGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGA CGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGG GAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGA GGGAGAGGGAGACGGGGAGAGGGAGAGGGAGGCGGGGAGAGGGAGAGGGA GACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGAGAGGG AGAGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0194 a0002c0002t0002g0194	1	370	0.0027	358	c.39 others(369): Show c.3959_*3960insTCTCCCTCTCCCTCTCGTCTCCCTCTCCCTCTCC CCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGCCTCCCT CTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCC CTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGT CTCCCTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCC CTCTCCCTCTCCCCGTCTCCCGTCTCCCTCTCCCTCTCCCTCTCCCCGTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCG TCTCCCTCTCCCTCTCCCTCTCCC	FLACC1	ENSG00000155749.13	transcript	ENST00000392257.8	protein_coding		3575		chr2	TogoVar
FTCD_chr21_46131779_46160579	46145756	C C	CTTCCCCC others(351): Show CTTCCCCCTCCCCGCCCTCCCCCCAACAGCGCCTTCCCCCCACCCCGCGC TCCCCCCAACAGCGCCCTCCCCCCAACAGCGCCCTCCCCCCAACAGCGCC CTCCCCCCAACAGCGCCCTCCCCCCAACAACTGCGCCCTCCCCTTCCCCC TCCCCGCCCTCCCCCCAACAGCGCCCTCCCCCCAACAACTGCGCCCTCCC CTTCCCCCTCCCCGCCCTCCCCCCAACAGCGCCTTCCCCCCACCCCGCGC TCCCCCCAACAGCGCCCTCCCCCCAACAGCGCCCTCCCCCCAACAGCGCC CTCCCCCCAACAACTGTGCCCTCCCCTTCCCCCTCCCCGCCCTCCCCCCA ACAGCGCTG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02559.hp1 HG02559.hp2 others(2): Show HG02257.hp2 HG02559.hp1 HG02559.hp2 HG02897.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0001 a0001c0002t0006 a0001c0001t0006 a0001c0002t0001 a0001c0002t0006	a0001c0001t0006g0124 a0001c0001t0006g0126 a0001c0001t0006g0171 others(2): Show a0001c0001t0006g0124 a0001c0001t0006g0126 a0001c0001t0006g0171 a0001c0002t0001g0122 a0001c0002t0006g0123	5	230	0.0217	358	c.109 others(373): Show c.1098+61_1098+62insCAGCGCTGTTGGGGGGAGGGCGGGGAGGGG GAAGGGGAGGGCACAGTTGTTGGGGGGAGGGCGCTGTTGGGGGGAGGGCG CTGTTGGGGGGAGGGCGCTGTTGGGGGGAGCGCGGGGTGGGGGGAAGGCG CTGTTGGGGGGAGGGCGGGGAGGGGGAAGGGGAGGGCGCAGTTGTTGGGG GGAGGGCGCTGTTGGGGGGAGGGCGGGGAGGGGGAAGGGGAGGGCGCAGT TGTTGGGGGGAGGGCGCTGTTGGGGGGAGGGCGCTGTTGGGGGGAGGGCG CTGTTGGGGGGAGGGCGCTGTTGGGGGGAGCGCGGGGTGGGGGGAAGGCG CTGTTGGGGGGAGGGCGGGGAGGGGGAA	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	9/13			chr21	TogoVar
FTHL17_chrX_31066233_31077041	31067395	T T	TACACACA others(351): Show TACACACACGTGTGTATATACACATACGCACACGTGTGTATATACACATA CGCACACGTGTGTATATACACATACGCACACGTGTGTATATACACATACG CACACGTGTGTATATACACATACGCACACGTGTGTATATACACATACGCA CACGTGTGTATATACACATACGCACACGTGTGTATATACACATACGCACA CGTGTGTATATACACATACGCACACGTGTGTATATACACATACGCACACG TGTGTATATACACATACGCACACGTGTGTATATACACATACGCACACGTG TGTATATACACATACGCACACGTGTGTATATACACATACGCACACGTGTG TATATACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	336	0.0030	358	c.40 others(369): Show c.4006_*4007insGTGTATATACACACGTGTGCGTATGTGTATATAC ACACGTGTGCGTATGTGTATATACACACGTGTGCGTATGTGTATATACAC ACGTGTGCGTATGTGTATATACACACGTGTGCGTATGTGTATATACACAC GTGTGCGTATGTGTATATACACACGTGTGCGTATGTGTATATACACACGT GTGCGTATGTGTATATACACACGTGTGCGTATGTGTATATACACACGTGT GCGTATGTGTATATACACACGTGTGCGTATGTGTATATACACACGTGTGC GTATGTGTATATACACACGTGTGCGTATGTGTATATACACACGTGTGCGT ATGTGTATATACACACGTGTGTGT	FTHL17	ENSG00000132446.7	transcript	ENST00000359202.5	protein_coding		3837		chrX	TogoVar
GALNT9_chr12_132191372_132334589	132241454	C C	CTCCCTAT others(351): Show CTCCCTATACCCATTACACACACAACACACACCCTTCCCGGGGTCGTCCC TATACCCATTACACACACGCCACACCCCCCTTCCCGGGGCCCTCCCTATA CCCATTACACACACAACACACACTTCCCGGGGCCCTCCCTATACCCATTA CACACACAACACACCCTTCCAGGGGCCCTCCCTATCCCCATTACACACAC GCCACACCCCCTTCCCGGGGCCCTCCCTATACCCATTTACACACACGCCA CGCCCCCGTCCCGGGGCCCTCCCTATACCCATTACACACACGCCACACCC CCTTCCCGGGGCCCTCCCTATACCCATTACACACTCACCACACACCCTTC CAGGGGCCG	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0097 a0001c0006t0001g0097	1	183	0.0055	358	c.107 others(377): Show c.1077+6455_1077+6456insCGGCCCCTGGAAGGGTGTGTGGTGAG TGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGGCGTGTGTGT AATGGGTATAGGGAGGGCCCCGGGACGGGGGCGTGGCGTGTGTGTAAATG GGTATAGGGAGGGCCCCGGGAAGGGGGTGTGGCGTGTGTGTAATGGGGAT AGGGAGGGCCCCTGGAAGGGTGTGTTGTGTGTGTAATGGGTATAGGGAGG GCCCCGGGAAGTGTGTGTTGTGTGTGTAATGGGTATAGGGAGGGCCCCGG GAAGGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGACGACCCCGGGAAG GGTGTGTGTTGTGTGTGTAATGGGTATAGGGA	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132242243	C C	CCACACAC others(351): Show CCACACACCCTTCCCGGGGCCCTCCCTATACCCATTACACACACAACACA CACCCTTCCCGGGGCCCTCCCTATACCCATTACACACACGCCACACCCCC TTCCCGGGGCCCTCCCTATACCCATTACACACACGCCACACACCCTTCCC GGGGCCCTCCCTATACCCATTACACACACAACACACCCCCTTCCCAGGGC CCTCCCTATACCCATTACACACACAACACACACTTCCCGGGGCCTTCCCT ATACCCATTACACACACGCCACACCCCCTTCCCGGGGCCCTCCCTATACC CATTACACACACACCACACCCCCTTCCCGGGGCCCTCCCTATACCCATTA CACACACAA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG06807.hp1 HG03041.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0033 a0001c0002t0001g0079 a0001c0001t0001g0033 a0001c0002t0001g0079	2	183	0.0109	358	c.107 others(377): Show c.1077+5666_1077+5667insTTGTGTGTGTAATGGGTATAGGGAGG GCCCCGGGAAGGGGGTGTGGTGTGTGTGTAATGGGTATAGGGAGGGCCCC GGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAAGGCCCCGGGAA GTGTGTGTTGTGTGTGTAATGGGTATAGGGAGGGCCCTGGGAAGGGGGTG TGTTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGTGTGTGGCG TGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGGCGTGTGT GTAATGGGTATAGGGAGGGCCCCGGGAAGGGTGTGTGTTGTGTGTGTAAT GGGTATAGGGAGGGCCCCGGGAAGGGTGTGTG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GATB_chr4_151665504_151766007	151678620	A A	AAACAGAG others(351): Show AAACAGAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCCCGCTCTTTAGCCC AGGCCGGATTGCAGTGGCACAATCTTGGCTCACTGCAAGCTCCGCCTCCC AGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG GCGCCCGCCACTGCGCCCGGCTAATTTTTTGTATTTTTTTTAGTAGAGAC GGGGTTTCACCGTGTTAGCCAAGATGGTCTCGATCTCCTGACCTTGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCAGCC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	320	0.0031	358	c.141 others(377): Show c.1410+1192_1410+1193insGGCTGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGAGA TCGAGACCATCTTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAAA TACAAAAAATTAGCCGGGCGCAGTGGCGGGCGCCTGTAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCA GTGAGCCAAGATTGTGCCACTGCAATCCGGCCTGGGCTAAAGAGCGGGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAGCTCTGTT	GATB	ENSG00000059691.12	transcript	ENST00000263985.11	protein_coding	11/12			chr4	TogoVar
GET4_chr7_871554_901436	889926	C C	CGGGTGTT others(351): Show CGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGG ACGGGGTCTGGGAGTGGAGGGAGCGTGAGCGGGTGTTAGGACGGGGTCTG GGAGTGGAGGGAGCGCAAGCGGGTGTTAGGACGGGGCCTGGGAGTGGAGG GAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGTGAGC GGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGTGAGCGGGTGTCAGG ACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGTCTGG GAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGG AGCGTGAGT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0002 a0001c0017t0002	a0001c0017t0002g0049 a0001c0017t0002g0049	1	384	0.0026	358	c.467 others(373): Show c.467-996_467-995insTAGGACGGGTCTGGGAGTGGAGGGAGCGCG AGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGTGAGCGGGTGTT AGGACGGGGTCTGGGAGTGGAGGGAGCGCAAGCGGGTGTTAGGACGGGGC CTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGG AGGGAGCGTGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGTG AGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTT AGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTC TGGGAGTGGAGGGAGCGTGAGTGGGTGT	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GET4_chr7_871554_901436	889926	C C	CGGGTGTT others(351): Show CGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGG ACGGGGTCTGGGAGTGGAGGGAGCGTGAGCGGGTGTTAGGACGGGGTCTG GGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGCCTGGGAGTGGAGG GAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGC GGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGTGAGCGGGTGTCAGG ACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGTCTGG GAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGG AGCGTGAGT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0121 a0001c0002t0002g0121	1	384	0.0026	358	c.467 others(373): Show c.467-996_467-995insTAGGACGGGTCTGGGAGTGGAGGGAGCGCG AGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGTGAGCGGGTGTT AGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGC CTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGG AGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGTG AGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTT AGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTC TGGGAGTGGAGGGAGCGTGAGTGGGTGT	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GLIS3_chr9_3819127_4305068	3876693	G G	GGGAGGGA others(351): Show GGGAGGGAGGGAGGGGGAGGGAGGGAGGGGGGGAGGGAGGGGGAGGGAGG GAGGGGGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGA GGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGG GAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGA GGGAGGGGAAGGGAGGGAGGGGAAGGAAAGGAGGGAGGGAGGGGAAGGGA GGGAGGGAGGGGAAGGGAGGGAGGGAGGGGAAGGAAGGGAGGGAGGGAGG GAAGGGAGGGAGGGAGGGGAAGGAAGGAAGGGAGGGAGGGGAAGGAAGGG AGGGAGGGA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0088 a0001c0001t0018g0088	1	188	0.0053	358	c.229 others(377): Show c.2297+2733_2297+2734insTCCCTCCCTCCCTTCCTTCCCCTCCC TCCCTTCCTTCCTTCCCCTCCCTCCCTCCCTTCCCTCCCTCCCTCCCTTC CTTCCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTTCCCCTCCCTCC CTCCTTTCCTTCCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCC CTCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCT CCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCC CTCCCTCCCTTCCCCTCCCTCCCTCCCCCCCTCCCTCCCTCCCCCTCCCT CCCCCCCTCCCTCCCTCCCCCTCCCTCCCTCC	GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	8/10			chr9	TogoVar
GLRA2_chrX_14524536_14736812	14631915	C C	CATATGTA others(351): Show CATATGTATATGTATATATATAGACATACATATGTATATGTCTATATAGA CATACATATACATATGTCTATATAGACATACATATATGTATGTCTATATA GACATATATATCTATATATACACATATACGTATATATAGACATATACGTA TATGTGTATATATAGACATATACGTATATGTGTATATATAGACATATACG TATATGTGTATATACGTATATGTGTATATATAGACATATACGTATATGTG TATATATAGACATATACGTATATGTGTATATATAGACATATACGTATATG TGTATATATAGACATATACGTATATGTGTATATATAGACATATATATGTA TATGTGTAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0190 a0001c0001t0021g0190	1	232	0.0043	358	c.930 others(377): Show c.930+22728_930+22729insATAGACATACATATGTATATGTCTAT ATAGACATACATATACATATGTCTATATAGACATACATATATGTATGTCT ATATAGACATATATATCTATATATACACATATACGTATATATAGACATAT ACGTATATGTGTATATATAGACATATACGTATATGTGTATATATAGACAT ATACGTATATGTGTATATACGTATATGTGTATATATAGACATATACGTAT ATGTGTATATATAGACATATACGTATATGTGTATATATAGACATATACGT ATATGTGTATATATAGACATATACGTATATGTGTATATATAGACATATAT ATGTATATGTGTATATATGTATATGTATATAT	GLRA2	ENSG00000101958.14	transcript	ENST00000218075.9	protein_coding	7/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
GNA14_chr9_77418079_77653322	77475028	T T	TCCAGTGT others(351): Show TCCAGTGTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCTGGAGTGCAGTGGTGGGATCTCGGCTCACTGCAAGCTCCGCCTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTAC AGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGAC GGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0135 a0001c0002t0001g0135	1	240	0.0042	358	c.310 others(377): Show c.310-40507_310-40506insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAATA CAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCCCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAGAAACACTGG	GNA14	ENSG00000156049.7	transcript	ENST00000341700.7	protein_coding	2/6			chr9	TogoVar
GPBP1_chr5_57169059_57269673	57249817	T T	TCCTTCCC others(351): Show TCCTTCCCCCTCCTTCCCCTCCCCCTTCCCGTCCTTCCCCCTCCCCTCCT TCCCCCTCCCCTCCTTCCTCCCTCCTCCACCTTCCCCTCCCCTCCTTCTC CACCTTCCCCCTTCCCCCCACCTCCTTCCGCCTCCCCCTACCCTTCCCCC TCACCTTCCCCTCCTTCCCCCCTCCCCTTCCCCTCCTTCCCCTTCCCCAT CCTCCTCCTTCCCCATCCTCTTCCTTCCCCCTCCCCCTTCCCCACCTTCC CCCTCCCCCTTCCCCTCCTTCCCCCTCCCTCCCCCTTCCCCCTCCCCACC TTCCCTGTCCCCCTCCTTCCCCTTTCCCCCTCCCCTCCTTCCCCTTTCCC CCTTCCCCC	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0170 a0001c0001t0004g0170	1	290	0.0035	358	c.972 others(373): Show c.972+241_972+242insCCTTCCCCCTCCTTCCCCTCCCCCTTCCCG TCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCTCCCTCCTCCACC TTCCCCTCCCCTCCTTCTCCACCTTCCCCCTTCCCCCCACCTCCTTCCGC CTCCCCCTACCCTTCCCCCTCACCTTCCCCTCCTTCCCCCCTCCCCTTCC CCTCCTTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTCTTCCTTCCCCC TCCCCCTTCCCCACCTTCCCCCTCCCCCTTCCCCTCCTTCCCCCTCCCTC CCCCTTCCCCCTCCCCACCTTCCCTGTCCCCCTCCTTCCCCTTTCCCCCT CCCCTCCTTCCCCTTTCCCCCTTCCCCC	GPBP1	ENSG00000062194.16	transcript	ENST00000506184.7	protein_coding	9/11			chr5	TogoVar
GRHL1_chr2_9946693_10007277	9998811	T T	TATATATG others(351): Show TATATATGTACACACATATATACACATATATATGTACACACATATATACA CATATATATGTACACACATATATACACATATATATGTACACACATATATA CACATATATATGTACACACATATATACACATATATATGTACACACATATA TACACATATATATGTACACACATATATACACATATATATGTACACACATA TATACACATATATATGTACACACATATATACACATATATATGTACACACA TATATACACATATATATGTACACACATATATACACATATATATGTACACA TATATACACATATATATGTACACATATATACACATATATATGTACACATA TATATATAC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0341 a0002c0002t0002g0341	1	418	0.0024	358	c.167 others(375): Show c.1678-148_1678-147insGTACACACATATATACACATATATATGT ACACACATATATACACATATATATGTACACACATATATACACATATATAT GTACACACATATATACACATATATATGTACACACATATATACACATATAT ATGTACACACATATATACACATATATATGTACACACATATATACACATAT ATATGTACACACATATATACACATATATATGTACACACATATATACACAT ATATATGTACACACATATATACACATATATATGTACACACATATATACAC ATATATATGTACACATATATACACATATATATGTACACATATATACACAT ATATATGTACACATATATATATACATATAT	GRHL1	ENSG00000134317.18	transcript	ENST00000324907.14	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
GRIP1_chr12_66342431_66684076	66617788	C C	CAAAAGAA others(351): Show CAAAAGAAATGCATATTAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGA GACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCC GAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0007 a0007	a0007c0004 a0007c0004	a0007c0004t0002 a0007c0004t0002	a0007c0004t0002g0153 a0007c0004t0002g0153	1	224	0.0045	358	c.56- others(375): Show c.56-20862_56-20861insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGC TTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATG ATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCCTTTAATATGCATTTCTTTT	GRIP1	ENSG00000155974.14	transcript	ENST00000359742.9	protein_coding	1/24			chr12	TogoVar
GSE1_chr16_85608322_85681200	85653214	T T	TCCTCCTC others(351): Show TCCTCCTCCCCCCCTCCTCCTCCCCCCTCCCACTCCTCCCCCCTCCTCCC CCCCCTCCCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCC CCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCCCCCTCCTCCCCC CTCCTCCTCCCCCCTCCTCCTCCCCCCCCTCCTCCCCCCCTCCTCCTCCT CCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCT CCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCC CCCTCCTCCTCCTCCTCCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTC CTCCTCCTC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0001 a0002c0017t0001	a0002c0017t0001g0219 a0002c0017t0001g0219	1	290	0.0035	358	c.427 others(375): Show c.427-1062_427-1061insTCCTCCCCCCCTCCTCCTCCCCCCTCCC ACTCCTCCCCCCTCCTCCCCCCCCTCCCCCCCCTCCTCCCCCCTCCTCCC CCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCC TCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCCTC CTCCCCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCT CCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCC CCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCCTCCTCCTC CTCCTCCCCCCTCCTCCTCCTCCTCCTCCC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
GUCY1A2_chr11_106669019_107023476	106709971	A A	ACATGTAT others(351): Show ACATGTATATAACATATACTTATATATTATATACATGTATATAACATATA CTTATATATTATATACATGTATATAACATATACTTATATATTATATACAT GTATATAACATATACTTATATATTATATACATGTATATAACATATAGTTA TGTATATTATATACATGTATATAACATATAGTTATGTATATTATATACAT GTATATAACATATAGTTATGTATATTATATACATGTATATAACATATAGT TATGTATATTATATACATGTATATAACATATAGTTATGTATATTATATAC ATGTATATAACATATAGTTATGTATATTATATACATGTATATAACATATA GTTATGTAT	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA19068.hp1 NA19079.hp2 NA18950.hp1 NA19068.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0006 a0001c0001t0007	a0001c0001t0006g0036 a0001c0001t0007g0160 a0001c0001t0007g0164 a0001c0001t0006g0036 a0001c0001t0007g0160 a0001c0001t0007g0164	3	256	0.0117	358	c.183 others(377): Show c.1837-1306_1837-1305insATACATAACTATATGTTATATACATG TATATAATATACATAACTATATGTTATATACATGTATATAATATACATAA CTATATGTTATATACATGTATATAATATACATAACTATATGTTATATACA TGTATATAATATACATAACTATATGTTATATACATGTATATAATATACAT AACTATATGTTATATACATGTATATAATATACATAACTATATGTTATATA CATGTATATAATATATAAGTATATGTTATATACATGTATATAATATATAA GTATATGTTATATACATGTATATAATATATAAGTATATGTTATATACATG TATATAATATATAAGTATATGTTATATACATG	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	6/7			chr11	TogoVar
HCN2_chr19_584881_622159	602189	C C	CCCTCCTC others(351): Show CCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCT GCGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCC TCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGG ACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCT CTCTCCTCCTGCGTGGACGCCCCACCTCCTCCTCTCTCCTCCTGCGTGGA CGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTC TCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGAC GCCCCACCT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0078 a0001c0078	a0001c0078t0008 a0001c0078t0008	a0001c0078t0008g0031 a0001c0078t0008g0031	1	408	0.0025	358	c.633 others(375): Show c.633-1290_633-1289insTCCTCCTCTCCTGCGTGGACGCCCCACT CCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCT GCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTC CCTCCTCTCTCCTCCTGCGTGGACGCCCCACCTCCTCCTCTCTCCTCCTG CGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCC CTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGC GTGGACGCCCCACCTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCC TCCTCTCTCCTCCTGCGTGGACGCCCCACT	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HCN2_chr19_584881_622159	602200	C C	CCTCCTGC others(351): Show CCTCCTGCGTGGACGCCCCCACTCCCCTCCTCTCTCCTCCTGCGTGGACG CCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCCACTCCCTCCTCT CTCCTCCTGCGTGGACGCCCCCACTCCCTCCTCTCTCCTCCTGCGTGGAC GCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCT CCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCA CTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCCACTTCCTCCTCTCTCCT CCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCA CTTCCTCCT	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	408	0.0025	358	c.633 others(375): Show c.633-1326_633-1325insCACTCCCCTCCTCTCTCCTCCTGCGTGG ACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCCACTCCCTCC TCTCTCCTCCTGCGTGGACGCCCCCACTCCCTCCTCTCTCCTCCTGCGTG GACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCC TCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCC CCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCCACTTCCTCCTCTCT CCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCC CCACTTCCTCCTCTCCTGCGTGGACGCCCC	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HCN2_chr19_584881_622159	602360	T T	TCTCCTGC others(351): Show TCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCC CCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCT GCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTC CCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTG CGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACCTC CTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGC GTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCC TCCTCTCTC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0001	a0001c0018t0001g0048 a0001c0018t0001g0048	1	408	0.0025	358	c.633 others(375): Show c.633-1120_633-1119insCTGCGTGGACGCCCCACTCCCTCCTCTC TCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGC CCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCT CCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCC CCACCTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTC CTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCC CACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCC TCCTGCGTGGACGCCCCACTTCCTCCTCTC	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HCN2_chr19_584881_622159	602360	T T	TCTCTCCT others(351): Show TCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGACGCC CCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTC CTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCC CACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCCTG CGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTC CTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGC GTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCC TCCTCTCTC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01981.hp2 HG02602.hp1 others(4): Show HG00735.hp2 HG01981.hp2 HG02602.hp1 HG03017.hp1 NA18967.hp2 NA18998.hp1 NA19080.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0002 a0001c0006 others(3): Show a0001c0001 a0001c0002 a0001c0006 a0001c0026 a0002c0004 a0008c0092	a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 a0001c0006t0002 a0001c0026t0002 a0002c0004t0002 a0008c0092t0001	a0001c0001t0001g0155 a0001c0001t0002g0396 a0001c0002t0003g0154 others(4): Show a0001c0001t0001g0155 a0001c0001t0002g0396 a0001c0002t0003g0154 a0001c0006t0002g0073 a0001c0026t0002g0045 a0002c0004t0002g0279 a0008c0092t0001g0123	7	408	0.0172	358	c.633 others(375): Show c.633-1181_633-1180insTCCTCCTGCGTGGACGCCCCACTTCCTC CTCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGC CCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCT CCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCC CCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCT GCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTC CCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTG CGTGGACGCCCCACTCCCTCCTCTCTCCTC	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HCN2_chr19_584881_622159	602360	T T	TCTCTCCT others(351): Show TCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGACGCC CCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTC CTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCC CACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCCTG CGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTC CTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGC GTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCC TCCTCTCTC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00597.hp1 HG00642.hp1 others(39): Show HG00558.hp2 HG00597.hp1 HG00642.hp1 HG00741.hp2 HG01106.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01255.hp2 HG01261.hp1 HG01496.hp1 HG01515.hp2 HG01934.hp1 HG01952.hp1 HG02109.hp2 HG02273.hp2 HG03490.hp2 HG03654.hp2 NA18943.hp2 NA18946.hp1 NA18947.hp2 NA18951.hp1 NA18952.hp2 NA18961.hp1 NA18962.hp1 NA18966.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18980.hp2 NA18985.hp1 NA18985.hp2 NA18999.hp2 NA19012.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19079.hp1 NA19082.hp2 NA19088.hp2 NA19089.hp1	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0001 a0001c0002 a0001c0009 others(11): Show a0001c0001 a0001c0002 a0001c0009 a0001c0015 a0001c0023 a0001c0030 a0001c0031 a0001c0044 a0001c0100 a0002c0004 a0002c0005 a0002c0011 a0002c0012 a0012c0081	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0002t0003 a0001c0002t0004 a0001c0009t0001 a0001c0009t0010 a0001c0015t0002 a0001c0015t0005 a0001c0023t0001 a0001c0030t0004 a0001c0031t0001 a0001c0044t0001 a0001c0100t0003 a0002c0004t0001 a0002c0005t0003 a0002c0005t0004 a0002c0005t0025 a0002c0011t0001 a0002c0012t0001 a0012c0081t0002	a0001c0001t0001g0083 a0001c0001t0001g0141 a0001c0001t0001g0157 others(39): Show a0001c0001t0001g0083 a0001c0001t0001g0141 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0226 a0001c0001t0002g0164 a0001c0001t0009g0143 a0001c0002t0003g0142 a0001c0002t0003g0145 a0001c0002t0003g0147 a0001c0002t0003g0148 a0001c0002t0003g0162 a0001c0002t0003g0225 a0001c0002t0004g0080 a0001c0002t0004g0092 a0001c0009t0001g0395 a0001c0009t0010g0120 a0001c0015t0002g0079 a0001c0015t0005g0144 a0001c0023t0001g0122 a0001c0023t0001g0125 a0001c0030t0004g0234 a0001c0030t0004g0235 a0001c0031t0001g0146 a0001c0044t0001g0124 a0001c0044t0001g0209 a0001c0100t0003g0171 a0002c0004t0001g0257 a0002c0004t0001g0295 a0002c0005t0003g0251 a0002c0005t0003g0272 a0002c0005t0003g0321 a0002c0005t0003g0344 a0002c0005t0004g0282 a0002c0005t0025g0352 a0002c0011t0001g0277 a0002c0011t0001g0278 a0002c0011t0001g0283 a0002c0012t0001g0345 a0012c0081t0002g0398	42	408	0.1029	358	c.633 others(375): Show c.633-1181_633-1180insTCCTCCTGCGTGGACGCCCCACTTCCTC CTCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGC CCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCT CCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCC CCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCT GCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTT CCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTG CGTGGACGCCCCACTCCCTCCTCTCTCCTC	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HCN2_chr19_584881_622159	602360	T T	TCTCTCCT others(351): Show TCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGACGCC CCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTC CTCCTGCGTGGACGCCTCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCC CACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCCTG CGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTC CTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGC GTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCC TCCTCTCTC	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0002 a0002	a0002c0028 a0002c0028	a0002c0028t0004 a0002c0028t0004	a0002c0028t0004g0284 a0002c0028t0004g0284	1	408	0.0025	358	c.633 others(375): Show c.633-1181_633-1180insTCCTCCTGCGTGGACGCCCCACTTCCTC CTCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGC CCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCTCACTTCCTCCTCTCT CCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCC CCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCT GCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTT CCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTG CGTGGACGCCCCACTCCCTCCTCTCTCCTC	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HECTD4_chr12_112155195_112387431	112353274	T T	TGAGGGAT others(351): Show TGAGGGATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTA CAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCC	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0020 a0001c0001t0003g0020	1	270	0.0037	358	c.177 others(377): Show c.177+28677_177+28678insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAGAATCCCTC	HECTD4	ENSG00000173064.14	transcript	ENST00000682272.1	protein_coding	1/75			chr12	TogoVar
HMGCLL1_chr6_55429373_55584192	55477190	T T	TTATATAT others(351): Show TTATATATAATATATATTATATTTATATAATATATAATATATATAATATA TAATATATATTATATAATATATAATATATATTATATATATAATATATAAT ATATATAATATATAATATATATTATATAATATATATTATATAATATATAT TATATAATATATATTATATAATATATAATATATAATATATAATATATAAT ATATAAATATATAAAATATATTTATATATTATATTTATATATTATAATTA TATAATATATATTATATTTATATAATATATAATATATATAATATATAATA TATATTATATAATTATAATATATATTATATATATATTATATAATATATAT AATATATAA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	334	0.0030	358	c.795 others(377): Show c.795+18228_795+18229insTTATATATTATATATATTATATAATA TATATATAATATATATTATAATTATATAATATATATTATATATTATATAT ATTATATATTATATAAATATAATATATATTATATAATTATAATATATAAA TATAATATATAAATATATTTTATATATTTATATATTATATATTATATATT ATATATTATATATTATATAATATATATTATATAATATATATTATATAATA TATATTATATAATATATATTATATATTATATATATTATATATTATATATA TAATATATATTATATATTATATAATATATATTATATATTATATATATTAT ATATTATATAAATATAATATATATTATATATA	HMGCLL1	ENSG00000146151.14	transcript	ENST00000274901.9	protein_coding	7/8			chr6	TogoVar
HMGCLL1_chr6_55429373_55584192	55477220	A A	ATAATATA others(351): Show ATAATATATAATATATATAATATATAATATATATTATATAATATATAATA TATATTATATATATAATATATAATATATATAATATATAATATATATTATA TAATATATATTATATAATATATATTATATAATATATATTATATAATATAT AATATATAATATATAATATATAATATATAAATATATAAAATATATTTATA TATTATATTTATATATTATATATTATATAATATATATTATATTTATATAA TATATAATATATATAATATATAATATATATTATATAATATATATTATATA TATAATATATAATATATATAATATATAATATATATTATATAATATATAAT ATATATTAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0147 a0001c0001t0003g0147	1	334	0.0030	358	c.795 others(377): Show c.795+18198_795+18199insATAATATATATTATATATTATATAAT ATATATTATATATTATATATATTATATATTATATATATAATATATATTAT ATAATATATATTATATATTATATATATTATATATTATATAAATATAATAT ATATTATATAATATATAATATATAAATATAATATATAAATATATTTTATA TATTTATATATTATATATTATATATTATATATTATATATTATATAATATA TATTATATAATATATATTATATAATATATATTATATAATATATATTATAT ATTATATATATTATATATTATATATATAATATATATTATATATTATATAA TATATATTATATATTATATATATTATATATTA	HMGCLL1	ENSG00000146151.14	transcript	ENST00000274901.9	protein_coding	7/8			chr6	TogoVar
HTR4_chr5_148476547_148659527	148544084	T T	TAAAATGT others(351): Show TAAAATGTGTATTACAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATT AGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGACTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0259	1	310	0.0032	358	c.353 others(375): Show c.353+4583_353+4584insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGTCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCCCTGTAATACACATTTT	HTR4	ENSG00000164270.19	transcript	ENST00000377888.8	protein_coding	4/6			chr5	TogoVar
INPP5D_chr2_233055342_233212903	233137860	A A	ACACATAT others(351): Show ACACATATATGTGTGTATATATATATATATACACATATATATGTGTATAT ATATATATACACACACATATATGTGTATATATACATATATATATGTGTAT ATATATATATATATACACATATATATGTGTATATATATATATACACATAT ATATGTGTATATATACACATATATATGTGTATATATATATATACACATAT ATATGTGTATATATATATATACACATATATATGTGTATATATACACATAT ATATGTGTATATATACACATATATATGTGTGTGTATATATATATACACAT ATATGTGTATATATATATACACACATATATATGTATATATATACATATAT ATATATACG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0141 a0001c0001t0011g0141	1	310	0.0032	358	c.666 others(375): Show c.666-1982_666-1981insCACATATATGTGTGTATATATATATATA TACACATATATATGTGTATATATATATATACACACACATATATGTGTATA TATACATATATATATGTGTATATATATATATATATACACATATATATGTG TATATATATATATACACATATATATGTGTATATATACACATATATATGTG TATATATATATATACACATATATATGTGTATATATATATATACACATATA TATGTGTATATATACACATATATATGTGTATATATACACATATATATGTG TGTGTATATATATATACACATATATGTGTATATATATATACACACATATA TATGTATATATATACATATATATATATACG	INPP5D	ENSG00000168918.14	transcript	ENST00000445964.6	protein_coding	5/26			chr2	TogoVar
INS_chr11_2154779_2166209	2161579	G G	GACCCCTG others(351): Show GACCCCTGTCCCCAGGACCCCTGTCCCCAGGACCCCTGTCCCCAGGACCC CTGTGCCCACACCCCTGTCCTCAGACCCCTGTCCCCAGGACCCCTGTCCC CACACCCCTGTCCCCACACCCCTGTCCCCGGGACCCCTGTCCCCACACCC CTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCC GGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGGACCC CTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCC CACACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCC TATCCCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	376	0.0027	358	c.-43 others(367): Show c.-430_-429insGTGGGGATAGGGGTGTGGGGACAGGGGTCTGGGGAC AGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTG TGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGAC AGGGGTGTGGGGACAGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGGTG TGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCCGGGGAC AGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTC TGAGGACAGGGGTGTGGGCACAGGGGTCCTGGGGACAGGGGTCCTGGGGA CAGGGGTCCTGGGGACAGGGGT	INS	ENSG00000254647.7	transcript	ENST00000381330.5	protein_coding		371		chr11	TogoVar
JAK1_chr1_64828229_64971549	64881262	T T	TAAAAAAT others(351): Show TAAAAAATATTAAAATTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCTG AGATCGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0251 a0001c0003t0001g0251	1	326	0.0031	358	c.205 others(375): Show c.205+2014_205+2015insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCCGGACTGCGGACTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCAT GATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCCAAAATTTTAATATTTTTT	JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding	3/24			chr1	TogoVar
KCNK10_chr14_88175108_88328269	88310155	C C	CATATACC others(351): Show CATATACCATATCATATGGTATATGATATACCATATCATATGGTATATCA TATACCATATCATATGGTATATCATATACCATATCATATGGTATATCATA TACCATATCATATGGTATATGATATACCATATCATATGGTATATCATATA CCATATCATATGGTATATCATATACCATATCATATGGTATATCATATACC ATATCATATGGTATATCATATACCATATCATATGGTATATCATATACCAT ATCATATGGTATATCATATACCATATCATATGGTATATCATATACCATAT CATATGGTATATCATATACCATATCATATGGTATATCATATACCATATCA TATGGTATA	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0064	a0001c0001t0064g0074 a0001c0001t0064g0074	1	334	0.0030	358	c.52+ others(375): Show c.52+12591_52+12592insTATACCATATGATATGGTATATGATATA CCATATGATATGGTATATGATATACCATATGATATGGTATATGATATACC ATATGATATGGTATATGATATACCATATGATATGGTATATGATATACCAT ATGATATGGTATATGATATACCATATGATATGGTATATGATATACCATAT GATATGGTATATGATATACCATATGATATGGTATATGATATACCATATGA TATGGTATATCATATACCATATGATATGGTATATGATATACCATATGATA TGGTATATGATATACCATATGATATGGTATATGATATACCATATGATATG GTATATCATATACCATATGATATGGTATAT	KCNK10	ENSG00000100433.16	transcript	ENST00000319231.10	protein_coding	1/6			chr14	TogoVar
KCNK10_chr14_88175108_88328269	88310155	C C	CATATACC others(351): Show CATATACCATATCATATGGTATATGATATACCATATCATATGGTATATCA TATACCATATCATATGGTATATGATATACCATATCATATGGTATATCATA TACCATATCATATGGTATATCATATACCATATCATATGGTATATCATATA CCATATCATATGGTATATCATATACCATATCATATGGTATATCATATACC ATATCATATGGTATATCATATACCATATCATATGGTATATCATATACCAT ATCATATGGTATATCATATACCATATCATATGGTATATCATATACCATAT CATATGGTATATCATATACCATATCATATGGTATATCATATACCATATCA TATGGTATA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG04184.hp1 HG01978.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0022 a0001c0003t0001 a0001c0001t0022 a0001c0003t0001	a0001c0001t0022g0093 a0001c0003t0001g0193 a0001c0001t0022g0093 a0001c0003t0001g0193	2	334	0.0060	358	c.52+ others(375): Show c.52+12591_52+12592insTATACCATATGATATGGTATATGATATA CCATATGATATGGTATATGATATACCATATGATATGGTATATGATATACC ATATGATATGGTATATGATATACCATATGATATGGTATATGATATACCAT ATGATATGGTATATGATATACCATATGATATGGTATATGATATACCATAT GATATGGTATATGATATACCATATGATATGGTATATGATATACCATATGA TATGGTATATGATATACCATATGATATGGTATATGATATACCATATGATA TGGTATATCATATACCATATGATATGGTATATGATATACCATATGATATG GTATATCATATACCATATGATATGGTATAT	KCNK10	ENSG00000100433.16	transcript	ENST00000319231.10	protein_coding	1/6			chr14	TogoVar
KCNMB2_chr3_178531436_178849429	178757984	G G	GATATATA others(351): Show GATATATATATATCCAAGAGGATATATATATATATCTCCAAGAGGATATA TATATATACACAAGAGGATATATATATATACACACAAGAGGATATATATA TGTACACACAAGAGGATATATATATATGTACACACAAGAGGATATATATA TATATATCCAAGAGGATATATATATATATATATCCAAGAGGATATATATA TATATATATCCAAGAGGATATATATATATATATATCCAAGAGGATATATA TATATATATATCCAAGAGGATATATATATATATATATATCCAAGAGGATA TATATATATATATATATCCAAGAGGATATATATATATATATATATCCAAG AGGATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0092 a0001c0001t0002g0092	1	232	0.0043	358	c.-67 others(377): Show c.-67-49347_-67-49346insCCAAGAGGATATATATATATATCTCC AAGAGGATATATATATATACACAAGAGGATATATATATATACACACAAGA GGATATATATATGTACACACAAGAGGATATATATATATGTACACACAAGA GGATATATATATATATATCCAAGAGGATATATATATATATATATCCAAGA GGATATATATATATATATATCCAAGAGGATATATATATATATATATCCAA GAGGATATATATATATATATATCCAAGAGGATATATATATATATATATAT CCAAGAGGATATATATATATATATATATCCAAGAGGATATATATATATAT ATATATCCAAGAGGATATATATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758165	G G	GATATATA others(351): Show GATATATATATATATATATCCAAGAGGATATATATATATATATATCCAAG AGGATATATATATATATATATATCCAAGAGGATATATATATATATATATA TATCCAAGAGGATATATATATATATATATATATCCAAGAGGATATATATA TATATATATATCCAAGAGGATATATATATATATATATCCAAGAGGATATA TATATATATATATCCAAGAGGATATATATATATATATATATCCAAGAGGA TATATATATATATATATATCCAAGAGGATATATATATATATATATATCCA AGAGGATATATATATATATATATCCAAGAGGATATATATCTATATATATC CAAGAGGAT	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0036 a0001c0001t0003g0036	1	232	0.0043	358	c.-67 others(377): Show c.-67-49162_-67-49161insATCCAAGAGGATATATATATATATAT ATCCAAGAGGATATATATATATATATATATCCAAGAGGATATATATATAT ATATATATATCCAAGAGGATATATATATATATATATATATCCAAGAGGAT ATATATATATATATATATCCAAGAGGATATATATATATATATATCCAAGA GGATATATATATATATATATCCAAGAGGATATATATATATATATATATCC AAGAGGATATATATATATATATATATCCAAGAGGATATATATATATATAT ATATCCAAGAGGATATATATATATATATATCCAAGAGGATATATATCTAT ATATATCCAAGAGGATATATATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758165	G G	GATATATA others(351): Show GATATATATATATATATATCCAAGAGGATATATATATATATATCCAAGAG GATATATATATATATATATATCCAAGAGGATATATATATATATATATATC CAAGAGGATATATATATATATATATATCCAAGAGGATATATATATATATA TATATCCAAGAGGATATATATATATATATATATCCAAGAGGATATATATA TATATATATATCCAAGAGGATATATATATCTATATATATCCAAGAGGATA TATATATCTATATATATCCAAGAGGATATATATATCTATATATATCCAAG AGGATATATATATCTATATATATCCAAGAGGATATATATCTATATATATC CAAGAGGAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0029 a0001c0001t0003g0029	1	232	0.0043	358	c.-67 others(377): Show c.-67-49162_-67-49161insATCCAAGAGGATATATATATATATAT CCAAGAGGATATATATATATATATATATCCAAGAGGATATATATATATAT ATATATCCAAGAGGATATATATATATATATATATCCAAGAGGATATATAT ATATATATATATCCAAGAGGATATATATATATATATATATCCAAGAGGAT ATATATATATATATATATCCAAGAGGATATATATATCTATATATATCCAA GAGGATATATATATCTATATATATCCAAGAGGATATATATATCTATATAT ATCCAAGAGGATATATATATCTATATATATCCAAGAGGATATATATCTAT ATATATCCAAGAGGATATATATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KDM2A_chr11_67114263_67263082	67222609	G G	GTGGCCGG others(351): Show GTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGAGGGGGCTGAC CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGACCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGG ACGGGGCAGCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGA CGGGGCGGC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0169 a0001c0001t0004g0169	1	220	0.0046	358	c.957 others(375): Show c.957+3266_957+3267insCCTCCCGGACGGGGCGGCTGGCCGGGCG AGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGACCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCAC CTCCCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCTGACACCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCA	KDM2A	ENSG00000173120.15	transcript	ENST00000529006.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
KIAA0825_chr5_94145851_94623604	94608474	A A	ATATTATA others(351): Show ATATTATATATATAATATATATTATATATATAATATATATAATATATATA AAATATATATATTATATATATAATATATATTATATATATAATATATATTT TATATATATTATATATATAAAATATATATATTATATATATAATATATATT ATATATATAATATATATATTTTATATATATAATATATATTATATATATAA TATATATATTATATATATAATATATATTATATATATAAAATATATATATT ATATATATAATATATATTATATATATAATATATATATTTTATATATATAA TATATATTATATATATAATATATATATTATATATATAATATATATATTAT ATATATAAT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0011 a0003c0002t0002g0011	1	54	0.0185	358	c.-15 others(379): Show c.-153+10025_-153+10026insATTATATATATAATATATATATTA TATATATAATATATATATTATATATATAATATATATTATATATATAAAAT ATATATATTATATATATAATATATATTATATATATAATATATATATTTTA TATATATAATATATATTATATATATAATATATATATTATATATATAATAT ATATTATATATATAAAATATATATATTATATATATAATATATATTATATA TATAATATATATATTTTATATATATAATATATATAAAATATATATTATAT ATATAATATATATTATATATATAATATATATATTTTATATATATTATATA TATTATATATATAATATATATTATATATATAATA	KIAA0825	ENSG00000185261.16	transcript	ENST00000682413.1	protein_coding	1/20			chr5	TogoVar
KIAA1549L_chr11_33371108_33679102	33403294	C C	CACACGCA others(351): Show CACACGCAGACACACAGACACGCAGACACAGATACACATACAGACATACA CACAGGGACACACACAGACTCAGGGACACACACACACAGACACACAGACA TAGACATATGCAGACACACACAGACACACACATGCAGACACAGACACACA TGGACACACACATGCAGACACGCGGACAGACACACACAGACACAGAGACA CACACGCAGACAGAGACACAGACATACACAGAGACCCAGGGACACACACA CACACATATGCAGACACACAGAAACACACAGACACACATAGACACATGCA CACACACATGCAGACACACAGACACACACAGACACATGCACACACATGCA GACAGACAG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0003 a0001c0023t0003	a0001c0023t0003g0013 a0001c0023t0003g0013	1	226	0.0044	358	c.238 others(377): Show c.238+26409_238+26410insGCAGACACACAGACACGCAGACACAG ATACACATACAGACATACACACAGGGACACACACAGACTCAGGGACACAC ACACACAGACACACAGACATAGACATATGCAGACACACACAGACACACAC ATGCAGACACAGACACACATGGACACACACATGCAGACACGCGGACAGAC ACACACAGACACAGAGACACACACGCAGACAGAGACACAGACATACACAG AGACCCAGGGACACACACACACACATATGCAGACACACAGAAACACACAG ACACACATAGACACATGCACACACACATGCAGACACACAGACACACACAG ACACATGCACACACATGCAGACAGACAGACAC	KIAA1549L	ENSG00000110427.17	transcript	ENST00000658780.2	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
KIAA1549L_chr11_33371108_33679102	33403294	C C	CACACGCA others(351): Show CACACGCAGACACACAGACACGCAGACACAGATACACATACAGACATACA CACAGGGACACACACAGAGACCCAGGGACACACACACACAGACACACAGA CATAGACATATGCAGACACACACAGACACACACATGCAGACACAGACACA CATGGACACACACATGCAGACACGCGGACAGACACAGACACAGAGACACA CACGCAGACAGAGACACAGACATACACAGAGACCCAGGGACACACACACA CACATATGCAGACACACAGAAACACACAGACACACATAGACACATGCACA CACACATGCAGACACACACAGACACACACAGACACATGCACACACATGCA GACAGACAG	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0076 a0001c0076	a0001c0076t0042 a0001c0076t0042	a0001c0076t0042g0137 a0001c0076t0042g0137	1	226	0.0044	358	c.238 others(377): Show c.238+26409_238+26410insGCAGACACACAGACACGCAGACACAG ATACACATACAGACATACACACAGGGACACACACAGAGACCCAGGGACAC ACACACACAGACACACAGACATAGACATATGCAGACACACACAGACACAC ACATGCAGACACAGACACACATGGACACACACATGCAGACACGCGGACAG ACACAGACACAGAGACACACACGCAGACAGAGACACAGACATACACAGAG ACCCAGGGACACACACACACACATATGCAGACACACAGAAACACACAGAC ACACATAGACACATGCACACACACATGCAGACACACACAGACACACACAG ACACATGCACACACATGCAGACAGACAGACAC	KIAA1549L	ENSG00000110427.17	transcript	ENST00000658780.2	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
KNSTRN_chr15_40377721_40399288	40386235	A A	AAATAATA others(351): Show AAATAATACTTTTTATTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGC CGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTA CAGGCTCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTCTAGTAGAGAC GGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGAT CCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCC	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19060.hp2 NA19056.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	2	374	0.0054	358	c.305 others(373): Show c.305-113_305-112insTTTATTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTC CGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGG GACTACAGGCTCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTCTAGTA GAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTC ATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCCAATAATACTTTTTA	KNSTRN	ENSG00000128944.14	transcript	ENST00000249776.13	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
LAMA5_chr20_62304065_62372312	62349741	T T	TGGTGGGG others(351): Show TGGTGGGGGTGGGGGTGGTGATGGTGGGGGTGGGGGTGATGATGGTGATG GTGGGGGTGATGACGGTGGGGCTGGGGGTGATGATGGTGGGGGTGATGAC GGTGATGATGGGGGTGGAGGGGTGATGACGGTGATGATGGGGGTGGGGGG GTGATGACGGTGATGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACG GTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGT GGGGGTGATGACGGTGGGGGTGGGGGTGATGATGGTGATGGTGGGGGTGA TGATGGTGGGGGTGGGGGTGATGATGGTGAGGGTGATGATGGTGGGGGTA ATGACGGTG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0034 a0034	a0034c0106 a0034c0106	a0034c0106t0001 a0034c0106t0001	a0034c0106t0001g0154 a0034c0106t0001g0154	1	186	0.0054	358	c.956 others(375): Show c.956+1962_956+1963insCACCGTCATTACCCCCACCATCATCACC CTCACCATCATCACCCCCACCCCCACCATCATCACCCCCACCATCACCAT CATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCC CCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCC ACCGTCATCACCCCCACATCACCGTCATCACCCCCCCACCCCCATCATCA CCGTCATCACCCCTCCACCCCCATCATCACCGTCATCACCCCCACCATCA TCACCCCCAGCCCCACCGTCATCACCCCCACCATCACCATCATCACCCCC ACCCCCACCATCACCACCCCCACCCCCACC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	6/79			chr20	TogoVar
LARS1_chr5_146108034_146187650	146174505	T T	TATATATA others(351): Show TATATATATCCATATATATATATCCATATATATATCCATATATATATATC CATATATATATCCATATATATATCCATATATATATATCCATATATATATC CATATATATATATCCATATATATATCCATATATATATATCCATATATATG GATATATATATATCCATATATATCTATCCATATATATATCCATATATATC TATCCATATATATATCCATATATCTATCCATATATATATCCATATATATA TATCCATATATATATATATCCATATATATATCCATATATATATATCCATA TATATATATATCCATATATATATATCCATATATATATATATCCATATATA TATATATCC	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0203 a0002c0002t0002g0203	1	284	0.0035	358	c.126 others(375): Show c.126-1732_126-1731insGGATATATATATATATGGATATATATAT ATATGGATATATATATATGGATATATATATATATGGATATATATATATGG ATATATATATGGATATATATATATATGGATATATATATATGGATATATAT ATGGATAGATATATGGATATATATATGGATAGATATATATGGATATATAT ATGGATAGATATATATGGATATATATATATCCATATATATGGATATATAT ATATGGATATATATATGGATATATATATATGGATATATATATGGATATAT ATATATGGATATATATATGGATATATATATGGATATATATATATGGATAT ATATATGGATATATATATATGGATATATAT	LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding	2/31			chr5	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(351): Show CCACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACATACCCG GGCCACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACATACC CGGGCCACTTACCTACTACACACCCGGGCCGCTTACTTACCTACTACACA CCCGGGCCGCTTACTTACCTACTACACACCCGGGCCGCTTACTTACCTAC TACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTT ACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGC TTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCG GGCCGCTTA	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0099 a0002c0002t0001g0099	1	296	0.0034	358	c.368 others(375): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCC GGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAG CGGCCCGGGTGTGTAGTAGGTAAGTGGCCCGGGTATGTAGTAAGTAAGTA AGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAG TAAGTGGCCCGGGTATGTAGTAAGTAAGTG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LYN_chr8_55874835_56019169	55900835	G G	GCTCTTGG others(351): Show GCTCTTGGAAATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGC CGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCCGCTT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGCCCGCCATCGCGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGA TCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGC	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0129 a0001c0001t0004g0129	1	288	0.0035	358	c.-6+ others(375): Show c.-6+20746_-6+20747insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAGGC TCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCCATCGCGCCCGGCTAATTTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCCTCTTGGAAATCTT	LYN	ENSG00000254087.8	transcript	ENST00000519728.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
MAD1L1_chr7_1810795_2237945	1860080	G G	GTCCCTAG others(351): Show GTCCCTAGACCTGACATCCTGCGGGGCGGCCTCTGTGTCCCTAGACCTGA CATCTGGCGGGGCGGCCTCTGTCTCCCTAGATGTGACATCCTGCGGGGCG GCCTCTGTGTCCCTAGACCTGACATCTGGTGGGGCGGCCTCTGTGTCCCT AGACATGACATCCTGCGGGGCGGCCTCTGTTCCCTAGACCTGACATCCTG CGGGGCGGCCTCTGTGTCCCTAGACCTGACATCTGGCGGGGCGGCCTCTG TCTCCCTAGATGTGACATCCTGCGGGGCGGCCTCTGTGTCCCTAGACTTG ACATCCTGCGGGGCGGCCTCTGTCTCCCTAGATGTGACATCCTGCGGGGC GGCCTCTGT	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA18522.hp1 HG01884.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0148 a0001c0001t0001g0149	2	264	0.0076	358	c.199 others(379): Show c.1998+38119_1998+38120insACAGAGGCCGCCCCGCAGGATGTC ACATCTAGGGAGACAGAGGCCGCCCCGCAGGATGTCAAGTCTAGGGACAC AGAGGCCGCCCCGCAGGATGTCACATCTAGGGAGACAGAGGCCGCCCCGC CAGATGTCAGGTCTAGGGACACAGAGGCCGCCCCGCAGGATGTCAGGTCT AGGGAACAGAGGCCGCCCCGCAGGATGTCATGTCTAGGGACACAGAGGCC GCCCCACCAGATGTCAGGTCTAGGGACACAGAGGCCGCCCCGCAGGATGT CACATCTAGGGAGACAGAGGCCGCCCCGCCAGATGTCAGGTCTAGGGACA CAGAGGCCGCCCCGCAGGATGTCAGGTCTAGGGA	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	18/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1860253	C C	CCTCTGTT others(351): Show CCTCTGTTCCCTAGACCTGACATCCTGCGGGGCGGCCTCTGTGTCCCTAG ACCTGACATCTGGCGGGGCGGCCTCTGTCTCCCTAGATGTGACATCCTGC GGGGCGGCCTCTGTGTCCCTAGACTTGACATCCTGCGGGGCGGCCTCTGT CTCCCTAGATGTGACATCCTGCGGGGCGGCCTCTGTTCCCTAGACCTGAC ATCCTGCGGGGCGGCCTCTGTGTCCCTAGACCTGACATCTGGCGGGGCGG CCTCTGTCTCCCTAGATGTGACATCCTGCGGGGCGGCCTCTGTGTCCCTA GACCTGACATCTGGTGGGGCGGCCTCTGTGTCCCTAGACATGACATCCTG CGGGGCGGT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	264	0.0038	358	c.199 others(379): Show c.1998+37946_1998+37947insACCGCCCCGCAGGATGTCATGTCT AGGGACACAGAGGCCGCCCCACCAGATGTCAGGTCTAGGGACACAGAGGC CGCCCCGCAGGATGTCACATCTAGGGAGACAGAGGCCGCCCCGCCAGATG TCAGGTCTAGGGACACAGAGGCCGCCCCGCAGGATGTCAGGTCTAGGGAA CAGAGGCCGCCCCGCAGGATGTCACATCTAGGGAGACAGAGGCCGCCCCG CAGGATGTCAAGTCTAGGGACACAGAGGCCGCCCCGCAGGATGTCACATC TAGGGAGACAGAGGCCGCCCCGCCAGATGTCAGGTCTAGGGACACAGAGG CCGCCCCGCAGGATGTCAGGTCTAGGGAACAGAG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	18/18			chr7	TogoVar
MGRN1_chr16_4619826_4695972	4648843	G G	GACTCTTC others(351): Show GACTCTTCCCGTGGTCACCCGGGTCCTCCTCCCGGGGGCTCTTCCCGTGG TCACCCGGCTCCTCCTCTCGGGGACTCTTCCCGTGGTCACCCGGGTCCTC CTCCCGGGACTCTTCCCGTGGTCACCCGGCTCCTCCTCCCGGGGACTCTT CCCGTGGTCACCCGGGTCCTCCTCTCGGGGACTCTTCCCGTGGTCACCCG GGTCCTCCTCCCGGGGACTCTTCCCGTGGTCACCCGGGTCCTCCTCCCGG GGACTCTTCCCGTGGTCACCCGGGTCCTCCTCCCGGGGCTCTTCCCGTGG TCACCCGGGTCCTCCTCCCGGGACTCTTCCCGTGGTCACCCGGCTCCTCC TCTCGGGGA	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA19087.hp1 NA18979.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0260 a0001c0001t0003g0098 a0001c0001t0002g0260 a0001c0001t0003g0098	2	334	0.0060	358	c.89- others(373): Show c.89-1522_89-1521insACTCTTCCCGTGGTCACCCGGGTCCTCCTC CCGGGGGCTCTTCCCGTGGTCACCCGGCTCCTCCTCTCGGGGACTCTTCC CGTGGTCACCCGGGTCCTCCTCCCGGGACTCTTCCCGTGGTCACCCGGCT CCTCCTCCCGGGGACTCTTCCCGTGGTCACCCGGGTCCTCCTCTCGGGGA CTCTTCCCGTGGTCACCCGGGTCCTCCTCCCGGGGACTCTTCCCGTGGTC ACCCGGGTCCTCCTCCCGGGGACTCTTCCCGTGGTCACCCGGGTCCTCCT CCCGGGGCTCTTCCCGTGGTCACCCGGGTCCTCCTCCCGGGACTCTTCCC GTGGTCACCCGGCTCCTCCTCTCGGGGA	MGRN1	ENSG00000102858.13	transcript	ENST00000262370.12	protein_coding	1/16			chr16	TogoVar
MMD2_chr7_4900998_4964187	4960054	G G	GTGGGAAG others(351): Show GTGGGAAGTGGGGGTGTTGGAGGGAGTGGGGGACCTGGGGGTGGAGGGAG TGGGAAGTGGGGGTGTTGGGGGGTGGAGGGAGTGGAAAGTGGGGGGTTGG GGGGAGTGGGGGACCTGGGGGTGGAGGAAGTGGGGGGTTGGTGGGAAGAA GGGGACCTGGGGGTGGGGGGAGTGGGAAGTGGGGGTGTTGGGGGGGGAGT GAGGGGGTTAGTGGGAAGAGAGGGACTTGGAGGTTGGGGGAGTGGGAAGT GGGGGTGTTGGAGGGAGTGGGGGACCTGGGGGTGGGGGGAGTGGGAAGTG GGGGTGTTGGGGGGGAGTGAGGGGGTTAGTGGGAAGAGAGGGACTTGGAG GTTGGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG01069.hp1 HG01975.hp2 others(8): Show HG00735.hp2 HG01069.hp1 HG01975.hp2 HG02071.hp2 HG02293.hp1 NA18951.hp1 NA18966.hp1 NA19054.hp1 NA19060.hp2 NA19074.hp2 NA19091.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0005 a0001c0002t0023 a0001c0002t0001 a0001c0002t0005 a0001c0002t0023	a0001c0002t0001g0192 a0001c0002t0005g0137 a0001c0002t0005g0141 others(8): Show a0001c0002t0001g0192 a0001c0002t0005g0137 a0001c0002t0005g0141 a0001c0002t0005g0142 a0001c0002t0005g0143 a0001c0002t0005g0145 a0001c0002t0005g0158 a0001c0002t0005g0159 a0001c0002t0005g0172 a0001c0002t0005g0191 a0001c0002t0023g0005	11	382	0.0288	358	c.-10 others(369): Show c.-1038_-1037insTCCCCCAACCTCCAAGTCCCTCTCTTCCCACTAA CCCCCTCACTCCCCCCCAACACCCCCACTTCCCACTCCCCCCACCCCCAG GTCCCCCACTCCCTCCAACACCCCCACTTCCCACTCCCCCAACCTCCAAG TCCCTCTCTTCCCACTAACCCCCTCACTCCCCCCCCAACACCCCCACTTC CCACTCCCCCCACCCCCAGGTCCCCTTCTTCCCACCAACCCCCCACTTCC TCCACCCCCAGGTCCCCCACTCCCCCCAACCCCCCACTTTCCACTCCCTC CACCCCCCAACACCCCCACTTCCCACTCCCTCCACCCCCAGGTCCCCCAC TCCCTCCAACACCCCCACTTCCCA	MMD2	ENSG00000136297.15	transcript	ENST00000401401.8	protein_coding		868		chr7	TogoVar
MON1A_chr3_49903873_49934811	49913640	T T	TTAGTGTA others(351): Show TTAGTGTATTTCCTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTA CAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0047 a0001c0002t0001g0047	1	262	0.0038	358	c.-13 others(373): Show c.-13-282_-13-281insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAGAAGGAAATACACTA	MON1A	ENSG00000164077.15	transcript	ENST00000296473.8	protein_coding	1/5			chr3	TogoVar
MSLN_chr16_755734_773862	767614	T T	TGGAGGGG others(351): Show TGGAGGGGGGAGCGTGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGCCG TGTGGGGGGGCGTGGAGGAGGGGCGTGTGGAGGGGGGCGCGTGGGGGGGG CGCATGGGGGGGCGTGGAGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGA GGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGGGGCACGTG GAGGGGTCGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCG TGGAGGAGGGGCGCGTGGAGGGGGGCGCGTGGGGGGGTGTGGAGGGGGGC GCGTGGGGGTGTGTGGGGGGGGCACGTGGAGGGGGGCGTGTGGGGGGGTG CGTGGAGGA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03130.hp1 NA20805.hp1 HG02257.hp1 HG03130.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098	3	388	0.0077	358	c.159 others(375): Show c.1596+146_1596+147insAGGGGGGAGCGTGGGGGGCGTGGAGGAG GGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGTGTGGA GGGGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAGGGGGGTGCGTGG AGGAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGG CGCGTGGAGGGGGCACGTGGAGGGGTCGCGTGGAGGAGGGGCGCGTGGAG GGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGGCGCGTG GGGGGGTGTGGAGGGGGGCGCGTGGGGGTGTGTGGGGGGGGCACGTGGAG GGGGGCGTGTGGGGGGGTGCGTGGAGGAGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar

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