Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ZSCAN32_chr16_3377085_3406004	3393207	T T	TATATATA others(418): Show TATATATAAATATATATATATTTATATATATATAAATATATATATATTTA TATATATAAATATATATATATAAATATATATATATTTATATATATATATT TATATATATAAATATATATATTTATATATATATTTATATATATATAAATA TATATATATAAATATATATATATAAATATAAATAAATATATATTTATATA TATAAATAAATATATATTTATATATATATTTATATATATATAAATATATA TATATATTTATATATATAAATATATATATTTATATATATATAAATATATA TATATTTTATATATATATAAATATATATATATATTTTATATATATATATA AATATATATATATATTTTATATATATATATAAATATATATATATATTTTA TATATATATATATAAATATATATATA	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0051	1	400	0.0025	425	c.532 others(440): Show c.532+441_532+442insTATATATATATTTATATATATATATATAAA ATATATATATATATTTATATATATATATAAAATATATATATATATTTATA TATATATATAAAATATATATATATATTTATATATATATAAAATATATATA TATTTATATATATATAAATATATATATTTATATATATAAATATATATATA TATTTATATATATATAAATATATATATAAATATATATTTATTTATATATA TAAATATATATTTATTTATATTTATATATATATATTTATATATATATATT TATATATATATAAATATATATATAAATATATATATTTATATATATAAATA TATATATATAAATATATATATATTTATATATATATATTTATATATATAAA TATATATATATTTATATATATATAAATATATATATATTTATATAT		ZSCAN32	ENSG00000140987.21	transcript	ENST00000396852.9	protein_coding	3/6						chr16	TogoVar
ABR_chr17_998519_1184981	1064582	C C	CTGTTATG others(419): Show CTGTTATGTGAACTGAGGGCTATGCATGTTCCTCTAGACGCTGTTGTTAC GTGAACTGAGGGCTATGCATGTTCCTCTAGCACTGCTGTTACGTGAACTG AGGGCTATGCATGTTCCTCCAGACACTGTTGGTATGTGAACTGAGGGCTA TGCATGTTCCTCTAGACACTGTTGTTATGTGAACTGAGGGCTATGCATGT TCCTCTAGACACTGTTATGTGAACTGAGGGTTATGCATGTTCCTCTAGAC ACTGTTGTTATGTGAAGTGAGGGCTATGCATGTTCCTCTAGACACTGTTG TTATGTGAACTGAGGGCTATACATGTTCCTCTAGACACTGCTATTATGTG AACTGAGGGCTATGCATGTTCCTCTAGACACTGTTGTTACGTGAACTGAG GGCTATGCATGTTCCTCTAGACGCTGT	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0309 a0001c0001t0005g0309	1	337	0.0030	426	c.118 others(445): Show c.1182+2494_1182+2495insACAGCGTCTAGAGGAACATGCATAGC CCTCAGTTCACGTAACAACAGTGTCTAGAGGAACATGCATAGCCCTCAGT TCACATAATAGCAGTGTCTAGAGGAACATGTATAGCCCTCAGTTCACATA ACAACAGTGTCTAGAGGAACATGCATAGCCCTCACTTCACATAACAACAG TGTCTAGAGGAACATGCATAACCCTCAGTTCACATAACAGTGTCTAGAGG AACATGCATAGCCCTCAGTTCACATAACAACAGTGTCTAGAGGAACATGC ATAGCCCTCAGTTCACATACCAACAGTGTCTGGAGGAACATGCATAGCCC TCAGTTCACGTAACAGCAGTGCTAGAGGAACATGCATAGCCCTCAGTTCA CGTAACAACAGCGTCTAGAGGAACATGCATAGCCCTCAGTTCACATAACA		ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	10/22						chr17	TogoVar
ACAP3_chr1_1287391_1312930	1288457	C C	CCCCGTGT others(419): Show CCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGT GTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGC CCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCCCCGTCCCCCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	295	0.0034	426	c.51 others(437): Show c.5106_*5107insACGGAGCAGAGACACGGGGGACGGGGCAGAGACA CGGGACGGAGCAGAGACACGGGGGACGGGGCAGAGACACGGGACGGAGCA GAGACACGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGGG ACGGGGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGGGGCAGAGA CACGGGACGGAGCAGGGACACGGGACGGGGCAGAGACACGGGACGGAGCA GAGACACGGGGGACGGGGCAGAGACACGGGACGGAGCAGGGACACGGGAC GGAGCAGACACGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACG GGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGA CACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGG		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					3933		chr1	TogoVar
ADAMTS14_chr10_70667506_70767441	70688906	A A	AGGGAGAG others(419): Show AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGG	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0117 a0001c0002t0014g0117	1	354	0.0028	426	c.523 others(445): Show c.523-13405_523-13404insGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGGG		ADAMTS14	ENSG00000138316.11	transcript	ENST00000373207.2	protein_coding	2/21					INFO_REALIGN_3_PRIME	chr10	TogoVar
ADAMTS2_chr5_179105853_179350461	179277913	C C	CGAGACCA others(419): Show CGAGACCAAAGGCTGACCCCCCCCGAGACCAACGGCTGACGCCCCCGCGA GACCAAAGGCTGACCCCCTCCGAGACCAAAGGCTGACACCCCCCGAGACC AAAGGCTGACCGCCCCCGAGACCAAAGGCTGACCCCCCCGTGAGACCAAA GGCTGACCCCCCCCGAGACCAAAGGCTGACCCCCCCGCGAGACCAAAGGC TGACCCCCCCGCGAGACCAAAGGCTGACCCCCCCCGAGACCAAAGGCTGA CCCCCCCCGAGACCAAAGGCTGACCCCCCGCGAGACCAAAGGCTGACCCC CCCCCCCGAGACCAAAGGCTGACCCCCCCCCCCGAGACCAAAGGCTGACC CCCCCCGAGACCAAAGGCTGACCCCCCCGCGAGACCAAAGGCTGACCCCC CCGCGAGACCAAAGGCTGACCCCCCCG	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0004 a0001c0003t0004g0004	1	276	0.0036	426	c.535 others(443): Show c.535-4850_535-4849insCGGGGGGGTCAGCCTTTGGTCTCGCGGG GGGGTCAGCCTTTGGTCTCGCGGGGGGGTCAGCCTTTGGTCTCGGGGGGG GTCAGCCTTTGGTCTCGGGGGGGGGGGTCAGCCTTTGGTCTCGGGGGGGG GGGTCAGCCTTTGGTCTCGCGGGGGGTCAGCCTTTGGTCTCGGGGGGGGT CAGCCTTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCGCGGGGGGGTCAG CCTTTGGTCTCGCGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCCT TTGGTCTCACGGGGGGGTCAGCCTTTGGTCTCGGGGGCGGTCAGCCTTTG GTCTCGGGGGGTGTCAGCCTTTGGTCTCGGAGGGGGTCAGCCTTTGGTCT CGCGGGGGCGTCAGCCGTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTC		ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21						chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179277913	C C	CGAGACCA others(419): Show CGAGACCAAAGGCTGACCCCCCCCGAGACCAACGGCTGACGCCCCCGCGA GACCAAAGGCTGACCCCCTCCGAGACCAAAGGCTGACACCCCCCGAGACC AAAGGCTGACCGCCCCCGAGACCAAAGGCTGACCCCCCCGTGAGACCAAA GGCTGACCCCCCCCGAGACCAAAGGCTGACCCCCCCGCGAGACCAAAGGC TGACCCCCCCGCGAGACCAAAGGCTGACCCCCCCCGAGACCAAAGGCTGA CCCCCCCCGAGACCAAAGGCTGACCCCCCGCGAGACCAAAGGCTGACCCC CCCCCCGAGACCAAAGGCTGACCCCCCCCCCCCGAGACCAAAGGCTGACC CCCCCCGAGACCAAAGGCTGACCCCCCCGCGAGACCAAAGGCTGACCCCC CCGCGAGACCAAAGGCTGACCCCCCCG	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0022 a0003c0002t0022	a0003c0002t0022g0136 a0003c0002t0022g0136	1	276	0.0036	426	c.535 others(443): Show c.535-4850_535-4849insCGGGGGGGTCAGCCTTTGGTCTCGCGGG GGGGTCAGCCTTTGGTCTCGCGGGGGGGTCAGCCTTTGGTCTCGGGGGGG GTCAGCCTTTGGTCTCGGGGGGGGGGGGTCAGCCTTTGGTCTCGGGGGGG GGGTCAGCCTTTGGTCTCGCGGGGGGTCAGCCTTTGGTCTCGGGGGGGGT CAGCCTTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCGCGGGGGGGTCAG CCTTTGGTCTCGCGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCCT TTGGTCTCACGGGGGGGTCAGCCTTTGGTCTCGGGGGCGGTCAGCCTTTG GTCTCGGGGGGTGTCAGCCTTTGGTCTCGGAGGGGGTCAGCCTTTGGTCT CGCGGGGGCGTCAGCCGTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTC		ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21						chr5	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500849	A A	AGGGGAAG others(419): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGGAGGGGGGAGGGGGA GGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGG GAGGGGGGAGGGGGAGGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGG GGGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGG AGGGGGGGAGAGGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAG GGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAG GGGGAGGAGGGGAGGAGGGGAGGGGGGAGGAGGGGAAGGGGAGGGGGAGG AGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGG ACGGGGGAGGAGGGGAGGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0027 a0001c0003t0001g0027	1	352	0.0028	426	c.51 others(437): Show c.5165_*5166insCCCTCCCCCCCTCCCCTCCTCCCCCGTCCCCCTC CTCCCCGCCCTCCCCTCCTCCCCCCTCCCCCTCCCCTTCCCCTCCTCCCC CTCCCCTTCCCCTCCTCCCCCCTCCCCTCCTCCCCTCCTCCCCCTCCCCC TTCCCTCCTCCCCCTCCCCTCCTCCCCCTCCCCTCCTCCTTCCCTCCTCC CCCTCCCCTCCTCCCCTCTCCCCCTCCCCCCCTCTCCCCCCCTCCCCTCC TCCCTCCTCCCCCCTCCCCTCCTCCCCCCCTCCCCTCCTCCCCCCCTCCT CCCCCCTCCCCTCCTCCCTCCTCCCCCCTCCCCCTCCCCCCTCCCCTCCT CCCCCCTCCCCTCCTCCCTCTTCCCCTCCTCCCTCCTCCCCCCTCCCCCT CCCCCCTCCCCCTCCTCCCCCCTCCCCTCCTCCCTCTTCCCC		ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding					4172		chr19	TogoVar
ADARB2_chr10_1172313_1742525	1327452	C C	CCAGCGCC others(419): Show CCAGCGCCTCCCCACGGCCCAGCGCCTCCCCACGGCACAGCGCCTCCCCA CTGCCCAGCGCCTCCCCACTGCCCAGCGCCTCCCCACGGCACAGCGCCTC CCCACGGCACAGCGCCTCCCCACTGCCCAGCGCCTCCCCACTGCCCAGCG CCTCCCCACGGCACAGCGCCTCCCCACGGCACAGCGCCTCCCCACTGCCC AGCGCCTCCCCACTGCCCAGCGCCTCCCCACGGCCCAGCGCCTCCCCACG GCACAGCGCCTCACTGCACAGCGCCTCCTCACTGCCCAGCGCCTCCCCAC TGCCCAGCGCCTCCTCACTGCACAGCGCCTCCCCACGGCACAGCGCCTCA CTGCACAGCGCCTCCTCACTGCACAGTGCCTCGTCACAGTTTAGTGCCTG CCCACAGTTCAGCGCCTCCCCAAGGCA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0070 a0001c0003t0001g0070	1	106	0.0094	426	c.107 others(447): Show c.1077+35575_1077+35576insTGCCTTGGGGAGGCGCTGAACTGT GGGCAGGCACTAAACTGTGACGAGGCACTGTGCAGTGAGGAGGCGCTGTG CAGTGAGGCGCTGTGCCGTGGGGAGGCGCTGTGCAGTGAGGAGGCGCTGG GCAGTGGGGAGGCGCTGGGCAGTGAGGAGGCGCTGTGCAGTGAGGCGCTG TGCCGTGGGGAGGCGCTGGGCCGTGGGGAGGCGCTGGGCAGTGGGGAGGC GCTGGGCAGTGGGGAGGCGCTGTGCCGTGGGGAGGCGCTGTGCCGTGGGG AGGCGCTGGGCAGTGGGGAGGCGCTGGGCAGTGGGGAGGCGCTGTGCCGT GGGGAGGCGCTGTGCCGTGGGGAGGCGCTGGGCAGTGGGGAGGCGCTGGG CAGTGGGGAGGCGCTGTGCCGTGGGGAGGCGCTGGGCCGTGGGGAGGCGC TG		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	3/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1327485	T T	TGCCCAGC others(419): Show TGCCCAGCGCCTCCCCACTGCCCAGCGCCTCCCCACGGCACAGCGCCTCC CCACGGCACAGCGCCTCCCCACTGCCCAGCGCCTCCCCACTGCCCAGCGC CTCCCCACGGCACAGCGCCTCCCCACGGCACAGCGCCTCCCCACTGCCCA GCGCCTCCCCACTGCCCAGCGCCTCCCCACTGCCCAGCGCCTCCCCACGG CCCAGCGCCTCCCCACGGCACAGCGCCTCACTGCACAGCGCCTCCTCACT GCCCAGCGCCTCCCCACTGCCCAGCGCCTCCTCACTGCACAGCGCCTCCC CACGGCACAGCGCCTCACTGCACAGCGCCTCCTCACTGCACAGTGCCTCG TCACAGTTTAGTGCCTGCCCACAGTTCAGCGCCTCCCCAAGGCACAGCGC CTCCTCACAGTTCAGCGCCTCCCCACG	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0008 a0002c0015t0008	a0002c0015t0008g0060 a0002c0015t0008g0060	1	106	0.0094	426	c.107 others(447): Show c.1077+35542_1077+35543insCGTGGGGAGGCGCTGAACTGTGAG GAGGCGCTGTGCCTTGGGGAGGCGCTGAACTGTGGGCAGGCACTAAACTG TGACGAGGCACTGTGCAGTGAGGAGGCGCTGTGCAGTGAGGCGCTGTGCC GTGGGGAGGCGCTGTGCAGTGAGGAGGCGCTGGGCAGTGGGGAGGCGCTG GGCAGTGAGGAGGCGCTGTGCAGTGAGGCGCTGTGCCGTGGGGAGGCGCT GGGCCGTGGGGAGGCGCTGGGCAGTGGGGAGGCGCTGGGCAGTGGGGAGG CGCTGGGCAGTGGGGAGGCGCTGTGCCGTGGGGAGGCGCTGTGCCGTGGG GAGGCGCTGGGCAGTGGGGAGGCGCTGGGCAGTGGGGAGGCGCTGTGCCG TGGGGAGGCGCTGTGCCGTGGGGAGGCGCTGGGCAGTGGGGAGGCGCTGG GC		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	3/9						chr10	TogoVar
ADGRG2_chrX_18984307_19127468	19074544	T T	TTTCTTCT others(419): Show TTTCTTCTTCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCT TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTC TCCTTCTCCTTCTCCTTCTCCTTCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTCCTTCTTCTTCTCCTTCTTCCTTCTTCTTCCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCC	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	188	0.0053	426	c.-1- others(441): Show c.-1-5710_-1-5709insGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG GAAGAAGAAGGAAGAAGGAGAAGAAGAAGGAGAAGGAGAAGGAGAAGGAG AAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAA GGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG AGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGAAGAAGAAGAA		ADGRG2	ENSG00000173698.18	transcript	ENST00000379869.8	protein_coding	2/28						chrX	TogoVar
AFF2_chrX_148495617_149005663	148581451	T T	TATATACG others(419): Show TATATACGTATACGTGTACACACACACACGTATATATACGTATACGTGTA CACACACACGTATATATACGTATACGTGTACACACACACGTATATATACG TATACGTGTACACACACACGTATATATACGTATACGTGTACACACACACG TATATATACGTATACGTGTACACACACACGTATATATACGTATACGTGTA CACACACACGTATATATACGTATACGTGTACACACACACGTATATACGTA TACGTGTACACACACACACGTATATACGTATACGTGTACACACACATACA CGTATATACGTATACGTGTACACACATATACACGTATACGTGTACACACA TATACACGTATACGTGTACACACATATACACGTATACGTGTACACACATA TACACGTATACGTGTACACACATATAC	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0065 a0001c0001t0003g0065	1	169	0.0059	426	c.48- others(443): Show c.48-70547_48-70546insTATACGTATACGTGTACACACACACACG TATATATACGTATACGTGTACACACACACGTATATATACGTATACGTGTA CACACACACGTATATATACGTATACGTGTACACACACACGTATATATACG TATACGTGTACACACACACGTATATATACGTATACGTGTACACACACACG TATATATACGTATACGTGTACACACACACGTATATATACGTATACGTGTA CACACACACGTATATACGTATACGTGTACACACACACACGTATATACGTA TACGTGTACACACACATACACGTATATACGTATACGTGTACACACATATA CACGTATACGTGTACACACATATACACGTATACGTGTACACACATATACA CGTATACGTGTACACACATATACACGTATACGTGTACACACATATACA		AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20					INFO_REALIGN_3_PRIME	chrX	TogoVar
APOOL_chrX_84998877_85098315	85088046	G G	GTATTTAT others(419): Show GTATTTATACATATATGTATAAATACGTATTAATACATATATGTATAAAT ACGTATTAATACATATATGTATAAATACATACATATTTATACATATATGT ATACATACATATTTATACATATATATGTATAAATACATACATATTTATAC ATATATATGTATAAATACATACATATTTATACATATATATGTATAAATAC GTACATATTTATACATATATATGTATAAATACGTACATATTTATACATAT ATATGTATAAATACGTACATATTTATACATATATATGTATAAATACGTAC ATATTTATACATATATATGTATAAATACGTACATATTTATACATATATGT ATAAATACGTACATATTTATACATATATGTATAAATACATATACATATTT ATACATATATGTATAAATACATATACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19001.hp2 NA19006.hp1 NA19066.hp1 NA19001.hp2 NA19006.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0088 a0001c0001t0027 a0001c0001t0088	a0001c0001t0027g0035 a0001c0001t0027g0058 a0001c0001t0088g0050 a0001c0001t0027g0035 a0001c0001t0027g0058 a0001c0001t0088g0050	3	256	0.0117	426	c.39 others(435): Show c.393_*394insGTATTAATACATATATGTATAAATACGTATTAATAC ATATATGTATAAATACATACATATTTATACATATATGTATACATACATAT TTATACATATATATGTATAAATACATACATATTTATACATATATATGTAT AAATACATACATATTTATACATATATATGTATAAATACGTACATATTTAT ACATATATATGTATAAATACGTACATATTTATACATATATATGTATAAAT ACGTACATATTTATACATATATATGTATAAATACGTACATATTTATACAT ATATATGTATAAATACGTACATATTTATACATATATGTATAAATACGTAC ATATTTATACATATATGTATAAATACATATACATATTTATACATATATGT ATAAATACATATACATATTTATACATATATGTATAAATAC		APOOL	ENSG00000155008.16	transcript	ENST00000373173.7	protein_coding	9/9				394	INFO_REALIGN_3_PRIME	chrX	TogoVar
APOOL_chrX_84998877_85098315	85088046	G G	GTATTTAT others(419): Show GTATTTATACATATATGTATAAATACGTATTAATACATATATGTATAAAT ACGTATTAATACATATATGTATAAATACATACATATTTATACATATATGT ATACATACATATTTATACATATATATGTATAAATACATACATATTTATAC ATATATATGTATAAATACATACATATTTATACATATATATGTATAAATAC GTACATATTTATACATATATATGTATAAATACGTACATATTTATACATAT ATATGTATAAATACGTACATATTTATACATATATATGTATAAATACGTAC ATATTTATACATATATGTATAAATACGTACATATTTATACATATATATGT ATAAATACGTACATATTTATACATATATGTATAAATACATATACATATTT ATACATATATGTATAAATACATATACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0090 a0001c0001t0090	a0001c0001t0090g0010 a0001c0001t0090g0010	1	256	0.0039	426	c.39 others(435): Show c.393_*394insGTATTAATACATATATGTATAAATACGTATTAATAC ATATATGTATAAATACATACATATTTATACATATATGTATACATACATAT TTATACATATATATGTATAAATACATACATATTTATACATATATATGTAT AAATACATACATATTTATACATATATATGTATAAATACGTACATATTTAT ACATATATATGTATAAATACGTACATATTTATACATATATATGTATAAAT ACGTACATATTTATACATATATATGTATAAATACGTACATATTTATACAT ATATGTATAAATACGTACATATTTATACATATATATGTATAAATACGTAC ATATTTATACATATATGTATAAATACATATACATATTTATACATATATGT ATAAATACATATACATATTTATACATATATGTATAAATAC		APOOL	ENSG00000155008.16	transcript	ENST00000373173.7	protein_coding	9/9				394	INFO_REALIGN_3_PRIME	chrX	TogoVar
APOOL_chrX_84998877_85098315	85088046	G G	GTATTTAT others(419): Show GTATTTATACATATATGTATAAATACGTATTAATACATATATGTATAAAT ACGTATTAATACATATATGTATAAATACATACATATTTATACATATATGT ATACATACATATTTATACATATATATGTATAAATACATACATATTTATAC ATATATATGTATAAATACGTACATATTTATACATATATATGTATAAATAC GTACATATTTATACATATATATGTATAAATACGTACATATTTATACATAT ATATGTATAAATACGTACATATTTATACATATATATGTATAAATACGTAC ATATTTATACATATATATGTATAAATACGTACATATTTATACATATATGT ATAAATACGTACATATTTATACATATATGTATAAATACATATACATATTT ATACATATATGTATAAATACATATACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02004.hp1 NA20752.hp1 HG02004.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0098 a0001c0001t0099 a0001c0001t0098 a0001c0001t0099	a0001c0001t0098g0156 a0001c0001t0099g0036 a0001c0001t0098g0156 a0001c0001t0099g0036	2	256	0.0078	426	c.39 others(435): Show c.393_*394insGTATTAATACATATATGTATAAATACGTATTAATAC ATATATGTATAAATACATACATATTTATACATATATGTATACATACATAT TTATACATATATATGTATAAATACATACATATTTATACATATATATGTAT AAATACGTACATATTTATACATATATATGTATAAATACGTACATATTTAT ACATATATATGTATAAATACGTACATATTTATACATATATATGTATAAAT ACGTACATATTTATACATATATATGTATAAATACGTACATATTTATACAT ATATATGTATAAATACGTACATATTTATACATATATGTATAAATACGTAC ATATTTATACATATATGTATAAATACATATACATATTTATACATATATGT ATAAATACATATACATATTTATACATATATGTATAAATAC		APOOL	ENSG00000155008.16	transcript	ENST00000373173.7	protein_coding	9/9				394	INFO_REALIGN_3_PRIME	chrX	TogoVar
APOOL_chrX_84998877_85098315	85088071	C C	CGTATTAA others(419): Show CGTATTAATACATATATGTATAAATACGTATTAATACATATATGTATAAA TACATACATATTTATACATATATGTATACATACATATTTATACATATATA TGTATAAATACATACATATTTATACATATATATGTATAAATACATACATA TTTATACATATATATGTATAAATACGTACATATTTATACATATATATGTA TAAATACGTACATATTTATACATATATATGTATAAATACGTACATATTTA TACATATATATGTATAAATACGTACATATTTATACATATATATGTATAAA TACGTACATATTTATACATATATATGTATAAATACGTACATATTTATACA TATATGTATAAATACGTACATATTTATACATATATGTATAAATACATATA CATATATGTATAAATACATATACATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0080 a0001c0001t0080	a0001c0001t0080g0070 a0001c0001t0080g0070	1	256	0.0039	426	c.39 others(435): Show c.393_*394insGTATTAATACATATATGTATAAATACGTATTAATAC ATATATGTATAAATACATACATATTTATACATATATGTATACATACATAT TTATACATATATATGTATAAATACATACATATTTATACATATATATGTAT AAATACATACATATTTATACATATATATGTATAAATACGTACATATTTAT ACATATATATGTATAAATACGTACATATTTATACATATATATGTATAAAT ACGTACATATTTATACATATATATGTATAAATACGTACATATTTATACAT ATATATGTATAAATACGTACATATTTATACATATATATGTATAAATACGT ACATATTTATACATATATGTATAAATACGTACATATTTATACATATATGT ATAAATACATATACATATATGTATAAATACATATACATAT		APOOL	ENSG00000155008.16	transcript	ENST00000373173.7	protein_coding	9/9				394		chrX	TogoVar
APOOL_chrX_84998877_85098315	85088071	C C	CGTATTAA others(419): Show CGTATTAATACATATATGTATAAATACGTATTTATACATATATGTATAAA TACGTATTAATACATATATGTATAAATACGTATTAATACATATATGTATA AATACATACATATTTATACATATATGTATACATACATATTTATACATATA TATGTATAAATACGTACATATTTATACATATATATGTATAAATACGTACA TATTTATACATATATATGTATAAATACGTACATATTTATACATATATATG TATAAATACGTACATATTTATACATATATATGTATAAATACGTACATATT TATACATATATATGTATAAATACGTACATATTTATACATATATATGTATA AATACGTACATATTTATACATATATATGTATAAATACGTACATATTTATA CATATATATGTATAAATACGTACATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0112 a0001c0001t0112	a0001c0001t0112g0019 a0001c0001t0112g0019	1	256	0.0039	426	c.39 others(435): Show c.393_*394insGTATTAATACATATATGTATAAATACGTATTTATAC ATATATGTATAAATACGTATTAATACATATATGTATAAATACGTATTAAT ACATATATGTATAAATACATACATATTTATACATATATGTATACATACAT ATTTATACATATATATGTATAAATACGTACATATTTATACATATATATGT ATAAATACGTACATATTTATACATATATATGTATAAATACGTACATATTT ATACATATATATGTATAAATACGTACATATTTATACATATATATGTATAA ATACGTACATATTTATACATATATATGTATAAATACGTACATATTTATAC ATATATATGTATAAATACGTACATATTTATACATATATATGTATAAATAC GTACATATTTATACATATATATGTATAAATACGTACATAT		APOOL	ENSG00000155008.16	transcript	ENST00000373173.7	protein_coding	9/9				394		chrX	TogoVar
ARHGAP39_chr8_144524179_144690846	144687084	A A	ACCCCGTG others(419): Show ACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCCGTGACCACA CACTAGCAGTGAGCACTTCCCACCCCGTGACCACACACTAGCAGTGAGCA CTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCCGTG ACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTGGCGG TGAGCACTTCCCACCCCCGTGACCACACACTAGCGGTGAGCACTTCCCAC CCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCCGTGACCACACA CTAGCAGTGAGCACTTCCCACCCCCGTGACCACACACTAGCAGTGAGCAC TTCCCACCCCGTGACCACACATTTACAGCGAGCACTTCCCACCCCGTGAC CACACACTAGCAGTGAGCACTTCCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02896.hp2 HG02895.hp1 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0234 a0001c0001t0002g0235	2	246	0.0081	426	c.-14 others(437): Show c.-1481_-1480insGTGGGAAGTGCTCACTGCTAGTGTGTGGTCACGG GGTGGGAAGTGCTCGCTGTAAATGTGTGGTCACGGGGTGGGAAGTGCTCA CTGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACTGCTAGTGTGTGG TCACGGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAA GTGCTCACCGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCCAG TGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGG GTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCAC TGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACTGCTAGTGTGTGGTC ACGGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGG		ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding					1239		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687177	G G	GGCGAGCA others(419): Show GGCGAGCACTTCCCACCCCTGTGACCACGCACTGGCGGTGAGCACTTCCC ACCCCGTGACCACTCATTTACAGCGAGCACTTCTCACCCCCGTGACCACA CACTGGCGGTGAGCACTTCCCACCCCGTGACCACTCATTTACAGCGAGCA CTTCTCACCCCCGTGACCACACACTGGCGGCGAGCACTTCCCACCCCGTG ACCACTCATTTACAGCGAGCACTTCCCACCCCCGTGACCACGCACTGGCG GCGAGCACTTCCCACCCCGTGACCACTCATTTACAGCGAGCACTTCCCAC CCCCGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCGTGACCACACA CTGGCGGCGAGCACTTCCCACCCCTGTGACCACGCACTGGCGGCGAGCAC TTCCCACCCCGTGACCACTCATTTACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	246	0.0041	426	c.-15 others(437): Show c.-1574_-1573insTGTAAATGAGTGGTCACGGGGTGGGAAGTGCTCG CCGCCAGTGCGTGGTCACAGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGG TCACGGGGTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACGGGGGTGGGAA GTGCTCGCTGTAAATGAGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGT GCGTGGTCACGGGGGTGGGAAGTGCTCGCTGTAAATGAGTGGTCACGGGG TGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGGTGAGAAGTGCTCGC TGTAAATGAGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTC ACGGGGGTGAGAAGTGCTCGCTGTAAATGAGTGGTCACGGGGTGGGAAGT GCTCACCGCCAGTGCGTGGTCACAGGGGTGGGAAGTGCTCGC		ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding					1332		chr8	TogoVar
ARMCX4_chrX_101480456_101500807	101494029	G G	GGGGCTGA others(419): Show GGGGCTGAGGCTGGGGCTGGGGTTGGGGCTGGGGTTGGGGCTGGGGCTGG GGCTGAGGCTGAGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGG CTGGAGCTGGGACTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCT GGGGCTGGGGCTGGGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGA GGCTGGGGCTGGGACTGAGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGG CTGAGGTTGGGGCTGGGACTGAGGCTGGGGCTAGGGCTGGGGCTGAGGCT GGGGCTAGGGCTGAGGCTGAGGTTGGGGCTGGGGCTGGGGCTGAGGCTGG GGCTGAGGCTCGGGCTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGG CTGGGGCTGAGGCTGGGGCTGAGGCTC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00140.hp1 HG00280.hp1 HG00323.hp1 others(128): Show HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00597.hp1 HG00621.hp1 HG00639.hp1 HG00673.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01074.hp1 HG01106.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01928.hp1 HG01975.hp1 HG01978.hp1 HG01981.hp2 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02080.hp2 HG02083.hp1 HG02132.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02486.hp1 HG02572.hp1 HG02630.hp2 HG02683.hp1 HG02698.hp1 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02970.hp1 HG03017.hp1 HG03239.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03831.hp1 HG03927.hp1 HG04115.hp1 HG04204.hp1 NA18941.hp1 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18950.hp2 NA18952.hp1 NA18954.hp1 NA18955.hp1 NA18959.hp1 NA18960.hp1 NA18962.hp1 NA18966.hp1 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18972.hp2 NA18974.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp2 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18987.hp2 NA18990.hp1 NA18994.hp1 NA18997.hp2 NA18998.hp1 NA18999.hp2 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19007.hp1 NA19030.hp1 NA19043.hp1 NA19055.hp1 NA19056.hp1 NA19057.hp1 NA19062.hp1 NA19065.hp1 NA19066.hp1 NA19074.hp1 NA19074.hp2 NA19078.hp1 NA19080.hp1 NA19081.hp2 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19087.hp2 NA19090.hp1 NA20129.hp1 NA20300.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0008 a0011 others(7): Show a0001 a0008 a0011 a0013 a0020 a0028 a0031 a0037 a0042 a0045	a0001c0001 a0001c0045 a0001c0057 others(11): Show a0001c0001 a0001c0045 a0001c0057 a0001c0058 a0001c0059 a0008c0010 a0011c0017 a0013c0018 a0020c0055 a0028c0047 a0031c0044 a0037c0065 a0042c0054 a0045c0053	a0001c0001t0001 a0001c0001t0003 a0001c0045t0001 others(12): Show a0001c0001t0001 a0001c0001t0003 a0001c0045t0001 a0001c0057t0001 a0001c0058t0001 a0001c0059t0010 a0008c0010t0001 a0011c0017t0006 a0013c0018t0001 a0020c0055t0001 a0028c0047t0003 a0031c0044t0001 a0037c0065t0001 a0042c0054t0001 a0045c0053t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0012 others(21): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0003g0002 a0001c0001t0003g0008 a0001c0045t0001g0002 a0001c0057t0001g0002 a0001c0058t0001g0002 a0001c0059t0010g0002 a0008c0010t0001g0003 a0011c0017t0006g0002 a0013c0018t0001g0003 a0020c0055t0001g0002 a0028c0047t0003g0002 a0031c0044t0001g0002 a0037c0065t0001g0008 a0042c0054t0001g0002 a0045c0053t0001g0025	131	326	0.4018	426	c.546 others(435): Show c.5461_5462insTTGGGGCTGGGGTTGGGGCTGGGGCTGGGGCTGAGG CTGAGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCT GGGACTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGG GGCTGGGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGCTGGGG CTGGGACTGAGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGTT GGGGCTGGGACTGAGGCTGGGGCTAGGGCTGGGGCTGAGGCTGGGGCTAG GGCTGAGGCTGAGGTTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGG CTCGGGCTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCT GAGGCTGGGGCTGAGGCTCGGGCTGAGGCTGGGGCTGGGG	p.Gly others(441): Show p.Gly1820_Ala1821insValGlyAlaGlyValGlyAlaGlyAlaGly AlaGluAlaGluAlaGlyAlaGluAlaGlyAlaGlyAlaGlyAlaGluAl aGlyAlaGlyThrGluAlaGlyAlaGlyAlaGlyAlaGlyAlaGluAlaG lyAlaGlyAlaGlyAlaGlyAlaGlyThrGluAlaGlyAlaGlyAlaGlu AlaGlyAlaGlyThrGluAlaGlyAlaGlyThrGluAlaGlyAlaGlyAl aGluValGlyAlaGlyThrGluAlaGlyAlaArgAlaGlyAlaGluAlaG lyAlaArgAlaGluAlaGluValGlyAlaGlyAlaGlyAlaGluAlaGly AlaGluAlaArgAlaGluAlaGlyAlaGlyAlaGluAlaGlyAlaGlyAl aGlyAlaGluAlaGlyAlaGluAlaArgAlaGluAlaGlyAlaGly	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	5973/7729	5462/6873	1821/2290		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101494029	G G	GGGGCTGA others(419): Show GGGGCTGAGGCTGGGGCTGGGGTTGGGGCTGGGGTTGGGGCTGGGGCTGG GGCTGAGGCTGAGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGG CTGGAGCTGGGACTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCT GGGGCTGGGGCTGGGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGA GGCTGGGGCTGGGACTGAGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGG CTGAGGTTGGGGCTGGGACTGGGGCTGGGGCTAGGGCTGGGGCTGAGGCT GGGGCTAGGGCTGAGGCTGAGGTTGGGGCTGGGGCTGGGGCTGAGGCTGG GGCTGAGGCTCGGGCTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGG CTGGGGCTGAGGCTGGGGCTGAGGCTC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0060 a0001c0060	a0001c0060t0001 a0001c0060t0001	a0001c0060t0001g0002 a0001c0060t0001g0002	1	326	0.0031	426	c.546 others(435): Show c.5461_5462insTTGGGGCTGGGGTTGGGGCTGGGGCTGGGGCTGAGG CTGAGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCT GGGACTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGG GGCTGGGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGCTGGGG CTGGGACTGAGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGTT GGGGCTGGGACTGGGGCTGGGGCTAGGGCTGGGGCTGAGGCTGGGGCTAG GGCTGAGGCTGAGGTTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGG CTCGGGCTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCT GAGGCTGGGGCTGAGGCTCGGGCTGAGGCTGGGGCTGGGG	p.Gly others(441): Show p.Gly1820_Ala1821insValGlyAlaGlyValGlyAlaGlyAlaGly AlaGluAlaGluAlaGlyAlaGluAlaGlyAlaGlyAlaGlyAlaGluAl aGlyAlaGlyThrGluAlaGlyAlaGlyAlaGlyAlaGlyAlaGluAlaG lyAlaGlyAlaGlyAlaGlyAlaGlyThrGluAlaGlyAlaGlyAlaGlu AlaGlyAlaGlyThrGluAlaGlyAlaGlyThrGluAlaGlyAlaGlyAl aGluValGlyAlaGlyThrGlyAlaGlyAlaArgAlaGlyAlaGluAlaG lyAlaArgAlaGluAlaGluValGlyAlaGlyAlaGlyAlaGluAlaGly AlaGluAlaArgAlaGluAlaGlyAlaGlyAlaGluAlaGlyAlaGlyAl aGlyAlaGluAlaGlyAlaGluAlaArgAlaGluAlaGlyAlaGly	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	5973/7729	5462/6873	1821/2290		INFO_REALIGN_3_PRIME	chrX	TogoVar
BDH1_chr3_197504783_197560968	197517675	C C	CATCAGTC others(419): Show CATCAGTCACTTCCTGCTCTATGGTCTCCATCCCCCCTCAGGCCGACCCC CTCATCAGTCATTTCCTGCTCTATGGTCTCCATCCCCCTTCAGGCCGACC CCCCCATCAGTCACTTCCTGCTCTATGGTCTCCATCCCCCTTCAGGCCAA CCCCCTCATCAGTCATTTCCTGCTCTATGGTCTCCATCCCCCTTCAGGCC GACCCCCCCATCAGTCACTTCCTGCTCTATGGTCTCCATCTCCCCCTCAG GCTGACCCCCCCAATCAGTCACTTCCTGCTCTATGGTCTCCATCTCCCCC TCAGGCTGACCCCCCCCATCAGTCACTTCCTGCTCTATGGTCTCCATCTC CCCCTCAGGCTGACCCCCCCCAATCAGTCACTTCCTGCTCTATGGTCTCC ATCTCCCCCTCAGGCTGACCCCCCCCA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03225.hp1 NA19240.hp1 HG03041.hp1 HG03225.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0115 a0001c0001t0121 a0001c0001t0140 a0001c0001t0115 a0001c0001t0121 a0001c0001t0140	a0001c0001t0115g0184 a0001c0001t0121g0185 a0001c0001t0140g0186 a0001c0001t0115g0184 a0001c0001t0121g0185 a0001c0001t0140g0186	3	319	0.0094	426	c.410 others(443): Show c.410-3260_410-3259insTGGGGGGGGTCAGCCTGAGGGGGAGATG GAGACCATAGAGCAGGAAGTGACTGATTGGGGGGGGTCAGCCTGAGGGGG AGATGGAGACCATAGAGCAGGAAGTGACTGATGGGGGGGGTCAGCCTGAG GGGGAGATGGAGACCATAGAGCAGGAAGTGACTGATTGGGGGGGTCAGCC TGAGGGGGAGATGGAGACCATAGAGCAGGAAGTGACTGATGGGGGGGTCG GCCTGAAGGGGGATGGAGACCATAGAGCAGGAAATGACTGATGAGGGGGT TGGCCTGAAGGGGGATGGAGACCATAGAGCAGGAAGTGACTGATGGGGGG GTCGGCCTGAAGGGGGATGGAGACCATAGAGCAGGAAATGACTGATGAGG GGGTCGGCCTGAGGGGGGATGGAGACCATAGAGCAGGAAGTGACTGAT		BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	6/7						chr3	TogoVar
BIN1_chr2_127043032_127112154	127105467	C C	CCCTCCTC others(419): Show CCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTCCTCCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0256 a0001c0002t0001g0256	1	344	0.0029	426	c.84+ others(441): Show c.84+1392_84+1393insAGGAGGAGGAGGAGGAGGAGGAGGAGGAGG AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGG AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGG AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGG		BIN1	ENSG00000136717.15	transcript	ENST00000316724.10	protein_coding	1/18						chr2	TogoVar
C17orf67_chr17_56786913_56838920	56792825	G G	GTGATGGT others(419): Show GTGATGGTGGTGGTGATGGTGATGATGGTGGTGATGGTGGTGGTGGTGAT GGTGATGGTGGTGATGGTGGTGGTGATGGTGGTGATGGTGGTGGTGATGG TGATGATGGTGATGGTGATGATGGTGGTGATGGTGATGGTGGTGGTGGTG GTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGATGATGGTGAT GGTGGTGGTGATGGTGATGATGGTGGTGATGGTGGTGGTGATGGTGGTGA TGGTGGTGGTGATGATGGTGGTGATGGTGATGATGGTGGTGATGGTGGTG GTGGTGATGGTGATGATGGTGGTGATGGTAGTGGTGGTGGTGATGGTGAT GATGATGGTGGTGATGGTAGTGGTGATGGTGATGATGGTGGTGATGGTGA TGATGGTGGTGATGGTGGTGATGGTGA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02258.hp2 HG01175.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0154 a0001c0001t0001g0149 a0001c0001t0001g0154	2	292	0.0069	426	c.21 others(441): Show c.21-474_*21-473insTCACCATCACCACCATCACCACCATCATCA CCATCACCACCATCATCACCATCACCACTACCATCACCACCATCATCATC ACCATCACCACCACCACTACCATCACCACCATCATCACCATCACCACCAC CACCATCACCACCATCATCACCATCACCACCATCATCACCACCACCATCA CCACCATCACCACCACCATCACCACCATCATCACCATCACCACCACCATC ACCATCATCACCATCACCACCACCACCACCATCACCACCATCACCACCAC CACCACCACCATCACCATCACCACCATCATCACCATCACCATCATCACCA TCACCACCACCATCACCACCATCACCACCACCATCACCACCATCACCATC ACCACCACCACCATCACCACCATCATCACCATCACCACCACCATCA		C17orf67	ENSG00000214226.9	transcript	ENST00000397861.7	protein_coding	7/7						chr17	TogoVar
C17orf67_chr17_56786913_56838920	56792825	G G	GTGATGGT others(419): Show GTGATGGTGGTGGTGATGGTGATGATGGTGGTGATGGTGGTGGTGGTGAT GGTGATGGTGGTGATGGTGGTGGTGATGGTGGTGATGGTGGTGGTGATGG TGATGATGGTGGTGATGGTGATGATGGTGGTGATGGTGATGGTGGTGGTG GTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGATGATGGT GATGGTGGTGGTGATGGTGATGATGGTGGTGATGGTGGTGGTGATGGTGG TGATGGTGGTGGTGATGATGGTGGTGATGGTGATGATGGTGGTGATGGTG GTGGTGGTGATGGTGATGATGGTGGTGATGGTAGTGGTGGTGGTGATGGT GATGATGGTGGTGATGGTAGTGGTGATGGTGATGATGGTGGTGATGGTGA TGATGGTGGTGATGGTGGTGATGGTGA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02572.hp1 HG02895.hp1 others(7): Show HG02109.hp1 HG02572.hp1 HG02895.hp1 HG03139.hp1 HG03540.hp1 HG03834.hp2 NA18946.hp2 NA18977.hp1 NA18988.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 others(7): Show a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0004g0127 a0001c0001t0004g0183 a0001c0001t0004g0184	10	292	0.0343	426	c.21 others(441): Show c.21-474_*21-473insTCACCATCACCACCATCACCACCATCATCA CCATCACCACCATCATCACCATCACCACTACCATCACCACCATCATCACC ATCACCACCACCACTACCATCACCACCATCATCACCATCACCACCACCAC CATCACCACCATCATCACCATCACCACCATCATCACCACCACCATCACCA CCATCACCACCACCATCACCACCATCATCACCATCACCACCACCATCACC ATCATCACCATCACCACCACCACCACCATCACCACCATCACCACCACCAC CACCACCATCACCATCACCACCATCATCACCATCACCACCATCATCACCA TCACCACCACCATCACCACCATCACCACCACCATCACCACCATCACCATC ACCACCACCACCATCACCACCATCATCACCATCACCACCACCATCA		C17orf67	ENSG00000214226.9	transcript	ENST00000397861.7	protein_coding	7/7						chr17	TogoVar
CACNA1B_chr9_137872782_138129619	138126363	G G	GAGGCCAT others(419): Show GAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGCCGCCAG CAGGGGGCGCAAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCC CCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTGAGCAAGAGGGCC CTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTGA GCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCAAGGCCA TGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGG GCGCAAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCC GCCAGCAGGGGGCGCAAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAG TGCCCCCGGCCGCCAGCAGGGGGCGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02886.hp2 HG02717.hp1 HG02886.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0009 a0001c0003 a0002c0009	a0001c0003t0005 a0002c0009t0012 a0001c0003t0005 a0002c0009t0012	a0001c0003t0005g0107 a0002c0009t0012g0220 a0001c0003t0005g0107 a0002c0009t0012g0220	2	248	0.0081	426	c.43 others(437): Show c.4364_*4365insAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAG TGCCCCCGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTGAGCAAGAG GGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACC GTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCAAG GCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCA GGGGGCGCAAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCC GGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTGAGCAAGAGGGCCCT GCAGTGCCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTGAGC AAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCA		CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding					1745		chr9	TogoVar
CAMK2B_chr7_44212154_44330594	44328554	A A	AGTGATGG others(419): Show AGTGATGGTGGTGATGATAGTGATGGTGGTAAGGGTGGTGGTGGTGGTGG TGGTGGTGATGGTAGTGATGATAATGATAATGATAGTGTTGGTGGTGATG GTGGTGGTGATAGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTAGT GATGATAATGATAATGATAGTGTTGGTGGTGATGGTGGTGGTGATAGTGG TGGTGGTGATGATGGTGGTGGTGGTGATGGTAGTGCTGCTGATGGTGGTG GTGGTGGTAATGGTGGTGGTGGTAATGGTGATGGTGATGATGGTAATGGT GGGGATGGCGATGGTGGTGGTGGTTATGATAATGATGGTAATGCTGATGC TGGTGGTGGTGATGGTGGTAGTGATGGCCGTGGTGATAGTTGTGTCAATG GTGGTGGTGGTGTCAATGGTGGTGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG01106.hp2 HG01109.hp1 others(7): Show HG01099.hp1 HG01106.hp2 HG01109.hp1 HG02622.hp1 HG02809.hp2 HG02818.hp2 HG02976.hp2 HG03225.hp2 HG03491.hp2 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0008 a0002c0005	a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 others(5): Show a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0004t0002 a0001c0004t0003 a0001c0008t0001 a0002c0005t0004 a0002c0005t0010	a0001c0001t0002g0017 a0001c0001t0004g0008 a0001c0002t0001g0009 others(7): Show a0001c0001t0002g0017 a0001c0001t0004g0008 a0001c0002t0001g0009 a0001c0002t0001g0015 a0001c0004t0002g0014 a0001c0004t0003g0011 a0001c0004t0003g0013 a0001c0008t0001g0012 a0002c0005t0004g0016 a0002c0005t0010g0007	10	242	0.0413	426	c.-31 others(437): Show c.-3134_-3133insCACCACCACCATTGACACCACCACCACCATTGAC ACAACTATCACCACGGCCATCACTACCACCATCACCACCACCAGCATCAG CATTACCATCATTATCATAACCACCACCACCATCGCCATCCCCACCATTA CCATCATCACCATCACCATTACCACCACCACCATTACCACCACCACCACC ATCAGCAGCACTACCATCACCACCACCACCATCATCACCACCACCACTAT CACCACCACCATCACCACCAACACTATCATTATCATTATCATCACTACCA TCACCACCACCACCATCACCACCACCACCACTATCACCACCACCATCACC ACCAACACTATCATTATCATTATCATCACTACCATCACCACCACCACCAC CACCACCACCCTTACCACCATCACTATCATCACCACCATCAC		CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding					2961		chr7	TogoVar
CAMKK2_chr12_121232692_121301709	121255266	A A	ATATATAT others(419): Show ATATATATAATTATATATATAATTATATATATATAATTATATATATAATT ATATATTTTTATATATATAATTATATATATAATTTTATATATATATAATT ATATATAATTATATATATATAATTATATATTATATATATAATTATATATA TATATTATATATATAATTTTATATATATATAATTATATATATAATTTTAT ATATATAATTATATATATATAAAATTATATATATAATTTTATATATAAAA TTATATATATAATTTTATATATATAATTATATATAATTTTATATATATAT AATTATATATATATAATTTTATATATATAATTATATATATATAATTTTAT ATATATAATTATATATATATAATTTTATATATATATAATTATATATAATT TTATATATATATAATTATATATATAAT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0271 a0002c0004t0002g0272 a0002c0004t0002g0271 a0002c0004t0002g0272	2	330	0.0061	426	c.907 others(441): Show c.907+283_907+284insATTATATATATAATTATATATATATAAAAT TATATATAATTATATATATATAAAATTATATATATATAATTATATATATA AAATTATATATATATAATTATATATATAAAATTATATATATATAATTATA TATATATAAAATTATATATAATTATATATATAAAATTATATATATAATTT TATATATAAAATTATATATATAATTTTATATATATATAATTATATATATA AAATTATATATATAATTATATATATATAAAATTATATATATAATATATAT ATATAATTATATATATAATATATAATTATATATATATAATTATATATAAT TATATATATATAAAATTATATATATAATTATATATATAAAAATATATAAT TATATATATAATTATATATATATAATTATATATATAATTATATATA		CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16						chr12	TogoVar
CAPN15_chr16_522712_559636	544701	A A	ACGTCGCC others(419): Show ACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCC TCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCAC GTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCCACGTC GCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTC CCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCT CCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCC ACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCAC GTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCACGTCGCCT CCCCCACGTCGTCGCCTCCCCCCACGT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0009 a0001c0007t0009	a0001c0007t0009g0244 a0001c0007t0009g0244	1	410	0.0024	426	c.-22 others(443): Show c.-22-2069_-22-2068insCCTCCCCCACGTCGCCTCCCCCACGTCG CCTCCCCCACGTCGCCTCCCCCACGTCGTCGTCTCCCCCACGTCGCCTCC CCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACG TCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTC GCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGT CGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCG CCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCC ACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCCACG TCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCG		CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr16	TogoVar
CASP8_chr2_201255536_201292709	201284695	G G	GGGGAGAG others(419): Show GGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAG ACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGG GGAGAGGGAGAGGGAGACGGGAGACGGGGAGAGGGAGACGGGAGACGGGG AGAGGGAGAGGGAGACGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGA GGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGA GAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGG GAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGGCGGGGA GAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGG GAGACGAGAGGGAGAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0260 a0001c0001t0005g0260	1	386	0.0026	426	c.803 others(440): Show c.803-100_803-99insAGACGGGGAGAGGGAGAGGGAGAGGGAGACG GGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGA GAGGGAGAGGGAGACGGGAGACGGGGAGAGGGAGACGGGAGACGGGGAGA GGGAGAGGGAGACGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGG AGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAG GGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAG ACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGGCGGGGAGAG GGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAG ACGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG		CASP8	ENSG00000064012.24	transcript	ENST00000673742.1	protein_coding	7/8					INFO_REALIGN_3_PRIME	chr2	TogoVar
CCDC63_chr12_110841987_110912535	110905917	A A	ATATATAA others(419): Show ATATATAATATATATTATATATAATATATATTATATTATATATAATATAT ATTATATAAAATATATATTATATTATATATAATATATATTATATAAAATA TATATTATATTATATATAATATATATTATATAAAATATATATTATATATA ATATATATTATATAAAATATATATTATATATAATATATATTATATAAAAT ATATATTATATTATATATAATATATATTATATAAAATATATATTATATTA TATATAATATATATTATATAAAATATATATTATATTATATAATATATATT ATATAAAATATATATTATATTATATAATATATATTTTATAAAATATATAT TATATTATATAATATATATTTTATAAAATATATATTATATTATATATAAT ATATATTATATAAAATATATATTATAT	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0200 a0001c0001t0002g0200	1	288	0.0035	426	c.154 others(445): Show c.1546+1146_1546+1147insTAATATATATTATATTATATATAATA TATATTATATAAAATATATATTATATTATATATAATATATATTATATAAA ATATATATTATATTATATATAATATATATTATATAAAATATATATTATAT ATAATATATATTATATAAAATATATATTATATATAATATATATTATATAA AATATATATTATATTATATATAATATATATTATATAAAATATATATTATA TTATATATAATATATATTATATAAAATATATATTATATTATATAATATAT ATTATATAAAATATATATTATATTATATAATATATATTTTATAAAATATA TATTATATTATATAATATATATTTTATAAAATATATATTATATTATATAT AATATATATTATATAAAATATATATTATATTATATAATATATATTATATA		CCDC63	ENSG00000173093.13	transcript	ENST00000308208.10	protein_coding	11/11					INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC88C_chr14_91266323_91422820	91293567	G G	GGCCCACC others(419): Show GGCCCACCTTCCTGCCCCCTCACCTGCCACAGCTCACCTTCCCATCCTCA CCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCA TCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACC TTCCCATCCTCACCTGCCACAGCTCACCTTCCCATCCTCACCTGCCACAG CCCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCG CCACAGCTCACCTTCCTGTCCCCTCGCCTGCCACAGCCCACCTTCCCATC CTCACCTGCCACAGCCCACCTTCCCATCCTCACCCGCCACAGCTCACCTT CCTGCCCCCTCACCTGCCACAGCCCACCTTCCCATCCTCACCCGCCACAG CTCACCTTCCCATCCTCACCCGCCACA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0026 a0001c0004t0001g0026	1	284	0.0035	426	c.411 others(443): Show c.4112+605_4112+606insTGTGGCGGGTGAGGATGGGAAGGTGAGC TGTGGCGGGTGAGGATGGGAAGGTGGGCTGTGGCAGGTGAGGGGGCAGGA AGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGGGCTGTGGCAGGTGAGG ATGGGAAGGTGGGCTGTGGCAGGCGAGGGGACAGGAAGGTGAGCTGTGGC GGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGGGC TGTGGCAGGTGAGGATGGGAAGGTGAGCTGTGGCAGGTGAGGATGGGAAG GTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGAT GGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGT GAGGATGGGAAGGTGAGCTGTGGCAGGTGAGGGGGCAGGAAGGTGGGC		CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29						chr14	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(419): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCCTCCCCCC TCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCC TCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCC CTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCC CCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCC CCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTT CCCCTCCTCTCCCCTCCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0196 a0001c0001t0032g0196	1	256	0.0039	426	c.-45 others(447): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCC CCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCT CCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCC TCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCC CTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCC CCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCT CCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCT CCCCCTCCCTTCCCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCC CC		CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr5	TogoVar
CENPH_chr5_69184583_69215357	69204022	T T	TATATAAA others(419): Show TATATAAATATATATAATATATAAATATATATAATTTCTATATATATTAT ATATAGAATATATATATATAGAATATATATATATAGAATATATATATAGA ATATATATATATAGAATATATATATAGAATATATATATATAGAATATATA TATATAGAATATATATATATAGAATATATATATATAGAATATATATATAT AGAATATATATATATAGAATATATATATAGAATATATATATATAGAATAT ATATATATAGAATATATATATATAGAATATATATATATAGAATATATATA TATAGAATATATATATATAGAATATATATATATAGAATATATATATATAG AATATATATATATAGAATATATATATATAGAATATATATATATAGAATAT ATATATATAGAATATATATATATAGAA	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	388	0.0026	426	c.487 others(443): Show c.487+1052_487+1053insATATAAATATATATAATATATAAATATA TATAATTTCTATATATATTATATATAGAATATATATATATAGAATATATA TATATAGAATATATATATAGAATATATATATATAGAATATATATATAGAA TATATATATATAGAATATATATATATAGAATATATATATATAGAATATAT ATATATAGAATATATATATATAGAATATATATATATAGAATATATATATA GAATATATATATATAGAATATATATATATAGAATATATATATATAGAATA TATATATATAGAATATATATATATAGAATATATATATATAGAATATATAT ATATAGAATATATATATATAGAATATATATATATAGAATATATATATATA GAATATATATATATAGAATATATATATATAGAATATATATATATAGAA		CENPH	ENSG00000153044.10	transcript	ENST00000283006.7	protein_coding	7/8						chr5	TogoVar
CENPH_chr5_69184583_69215357	69204071	A A	ATAGAATA others(419): Show ATAGAATATATATATATAGAATATATATATAGAATATATATATATAGAAT ATATATATAGAATATATATATATAGAATATATATATATAGAATATATATA TATAGAATATATATATATAGAATATATATATATAGAATATATATATATAG AATATATATATATAGAATATATATATATAGAATATATATATATAGAATAT ATATATATAGAATATATATATATAGAATATATATATATAGAATATATATA TATAGAATATATATATATAGAATATATATATATAGAATATATATATATAG AATATATATATATAGAATATATATATATAGAATATATATATATAGAATAT ATATATATAGAATATATATATATAGAATATATATATATAGAATATATATA TATAGAATATATATATATAGAATATAT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	388	0.0026	426	c.487 others(443): Show c.487+1101_487+1102insTAGAATATATATATATAGAATATATATA TAGAATATATATATATAGAATATATATATAGAATATATATATATAGAATA TATATATATAGAATATATATATATAGAATATATATATATAGAATATATAT ATATAGAATATATATATATAGAATATATATATATAGAATATATATATATA GAATATATATATATAGAATATATATATATAGAATATATATATATAGAATA TATATATATAGAATATATATATATAGAATATATATATATAGAATATATAT ATATAGAATATATATATATAGAATATATATATATAGAATATATATATATA GAATATATATATATAGAATATATATATATAGAATATATATATATAGAATA TATATATATAGAATATATATATATAGAATATATATATATAGAATATAT		CENPH	ENSG00000153044.10	transcript	ENST00000283006.7	protein_coding	7/8						chr5	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(419): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCTCCCCC TTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTC CCTCCTCCCTTCCCCCTTCTTCCTCCCCCCTTCCCCCTTCCTCCCTCCCC CTTCTTCCTCCTCCCTTCCCCTTCCCCCTTCCTTCTTCCTCCTCCTCTTC TTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTT CCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCC TTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCTC CCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTC CCCCTTCCTCCCTCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	354	0.0028	426	c.69 others(437): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTC CCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCTCCCCCCTTCCC CCTTCCTCCCTCCCCCTTCTTCCTCCTCCCTTCCCCTTCCCCCTTCCTTC TTCCTCCTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCT CCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCC TTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTC CCTTCCCCCTTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTC CTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC		CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding					4830		chr9	TogoVar
CHM_chrX_85856180_86052558	85911162	T T	TATATATA others(419): Show TATATATATGTGTGTATATATATATATATATGAATATATATATGAATATA TATATGAATATATATATGAATATATATATGAATATATATGAATATATATG AATATATATATGAATATATATGAATATATATATGAATATATATATGAATA TATATATGAATATATATATGAATATATATATGAATATATATATGAATATA TATATGAATATATATATATGAATATATATATATGAATATATATATATGAA TATATATATGAATATATATATATGAATATATATATATGAATATATATATA TGAATATATATATGAATATATATATATGAATATATATATATGAATATATA TATATGAATATATATATATGAATATATATATATGAATATATATATATGAA TATATATATATGAATATATATATATGA	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0072 a0001c0002t0002g0072	1	245	0.0041	426	c.124 others(441): Show c.1244+98_1244+99insTCATATATATATATTCATATATATATATTC ATATATATATATTCATATATATATATTCATATATATATATTCATATATAT ATATTCATATATATATATTCATATATATATATTCATATATATATTCATAT ATATATATTCATATATATATATTCATATATATATATTCATATATATATTC ATATATATATATTCATATATATATATTCATATATATATATTCATATATAT ATTCATATATATATTCATATATATATTCATATATATATTCATATATATAT TCATATATATATTCATATATATATTCATATATATTCATATATATATTCAT ATATATTCATATATATTCATATATATATTCATATATATATTCATATATAT ATTCATATATATATTCATATATATATATATATACACACATATATAT		CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	9/14						chrX	TogoVar
COL19A1_chr6_69861556_70217468	69920971	T T	TATATATG others(419): Show TATATATGATATATATCATATATACATATGATATATACATGATATATATG ATATATATGATACATATGATATATATGATATATATGATACATATGATATA TATGATATATATATGATACAAATGATATATATGATATATATGATATATAT CAGATATATATATCATATATATCATATATATCATTTGTATCATATATATA TCATATATATCATATGTATCATATATATCATATATATCATGTATATATCA TATATATCATATATGTATTCATATATATCATATATTCATATATAATATAT ATTCATATATCATATATATTCATATATATCATATAAATTCATATATCATA TATATTCATATATATCATATATATTCATATATATATCATATATATTCATA TATATCATATATATTCATATATATATC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0013 a0003c0010t0013	a0003c0010t0013g0172 a0003c0010t0013g0172	1	182	0.0055	426	c.267 others(443): Show c.267-6936_267-6935insATATGATATATATCATATATACATATGA TATATACATGATATATATGATATATATGATACATATGATATATATGATAT ATATGATACATATGATATATATGATATATATATGATACAAATGATATATA TGATATATATGATATATATCAGATATATATATCATATATATCATATATAT CATTTGTATCATATATATATCATATATATCATATGTATCATATATATCAT ATATATCATGTATATATCATATATATCATATATGTATTCATATATATCAT ATATTCATATATAATATATATTCATATATCATATATATTCATATATATCA TATAAATTCATATATCATATATATTCATATATATCATATATATTCATATA TATATCATATATATTCATATATATCATATATATTCATATATATATCAT		COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50					INFO_REALIGN_3_PRIME	chr6	TogoVar
COL4A2_chr13_110302284_110518209	110355326	A A	AGAGGGCT others(419): Show AGAGGGCTGCAGTAGCTCACCTGTGTGTGGGGGGGAGGGCTGCACTAGCT CACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGG GAGGGCTGTACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGTACTAGCTC ACCTGTGTGTGTGGGGGAGGGCTGTACTAGCTCACCTGTGTGTGTGGGGG AGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGTACTAGCTCA CCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGA GGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCAC CTGTGTGGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGC TGTACTAGCTCACCTGTGTGTGTGGGG	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0002 a0001c0024t0002	a0001c0024t0002g0339 a0001c0024t0002g0339	1	372	0.0027	426	c.100 others(443): Show c.100-2136_100-2135insGTAGCTCACCTGTGTGTGGGGGGGAGGG CTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTG TGTGTGTGGGGGAGGGCTGTACTAGCTCACCTGTGTGTGTGGGGGAGGGC TGTACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGTACTAGCTCACCTGT GTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCT GTACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTG TGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTG CACTAGCTCACCTGTGTGGGGGGAGGGCTGCACTAGCTCACCTGTGTGTG TGGGGGAGGGCTGTACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCA		COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47					INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A3_chr2_227159624_227319792	227203424	T T	TGTGTGTA others(419): Show TGTGTGTATATGTGTATATACACATACATGTGTGTATATGTGTATATACA CATACACATACATGTGTGTATATGTGTATATACACATACACATACATGTG TGTATATGTGTATATACACATACACATACATGTGTGTATATGTGTATATA CACATACACATACATGTGTGTATATGTGTATATACACATACACATACATG TGTGTATATGTGTATATACACATACACATACATGTGTGTATATGTATATA CACATACACATACATGTGTGTATATGTGTATATACACATACACATACATG TGTGTATATGTGTATATACACATACACATACATGTGTGTATATGTGTATA TACACATACACATACATGTGTGTATATGTGTATATACACATACACATACA TGTGTGTATATGTGTATATACACATAC	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0007 a0005c0005t0007	a0005c0005t0007g0280 a0005c0005t0007g0280	1	344	0.0029	426	c.88- others(443): Show c.88-34544_88-34543insGTGTGTATATGTGTATATACACATACAT GTGTGTATATGTGTATATACACATACACATACATGTGTGTATATGTGTAT ATACACATACACATACATGTGTGTATATGTGTATATACACATACACATAC ATGTGTGTATATGTGTATATACACATACACATACATGTGTGTATATGTGT ATATACACATACACATACATGTGTGTATATGTGTATATACACATACACAT ACATGTGTGTATATGTATATACACATACACATACATGTGTGTATATGTGT ATATACACATACACATACATGTGTGTATATGTGTATATACACATACACAT ACATGTGTGTATATGTGTATATACACATACACATACATGTGTGTATATGT GTATATACACATACACATACATGTGTGTATATGTGTATATACACATAC		COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51						chr2	TogoVar
DCDC2_chr6_24166755_24363059	24238175	A A	AGGGAGGG others(419): Show AGGGAGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAAG GGAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGAATGGAGGGAGGA ATGGAGGGATGGGGAGGGGGAGGGGAGGGGGAGGGGAGTGGAAGGGGGAG GGGAGGGGGAGGGGAGTGGAAGGGGGAGGGGAGGGGGAGGGGAGGGGGAG GGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAG GGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGG GGGAGGGGAAGGGGAAGGGGAGGGGAAGGGGAAGGGGAAGGGGAAGGGGA GGGGGAGGGGAAGGGGAAGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGG GAGGGGAAGGGGGAGACAGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03453.hp2 HG02976.hp1 HG03453.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0005 a0003c0003t0002 a0003c0003t0005	a0003c0003t0002g0151 a0003c0003t0005g0150 a0003c0003t0002g0151 a0003c0003t0005g0150	2	216	0.0093	426	c.923 others(445): Show c.923-33074_923-33073insCCTCCCCTCTGTCTCCCCCTTCCCCT CCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCTTCCCCTTCCCCTCCCC CTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTCCCCTTCCCCTTCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCC CCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTTCCACTCCCCTCCCCCTCC CCTCCCCCTTCCACTCCCCTCCCCCTCCCCTCCCCCTCCCCATCCCTCCA TTCCTCCCTCCATTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTC CCTTCCTCCCTCCCTCCCTTCATTCCTCCCTCCCTCCCTTCCTCCCTCCC		DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9						chr6	TogoVar
DECR2_chr16_396885_417482	397709	T T	TGGGGGGG others(419): Show TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGG GTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGGTGGGGGGGGTGGGGGGGGTGAGGGAGTCGGG TGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGGTGGGGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	367	0.0027	426	c.-42 others(437): Show c.-4255_-4254insGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGG TGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGA GGGAGTCGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGGTGGGGGGGGTGGGGGG GGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGGTGGGGGTG		DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding					4175		chr16	TogoVar
DECR2_chr16_396885_417482	397726	C C	CGGGGGGG others(419): Show CGGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTG GGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GGGTGAGGGAGTCGGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGGGGTGAGGGAGTCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	367	0.0027	426	c.-42 others(437): Show c.-4238_-4237insGGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGG TGAGGGAGTCGGGTGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCG		DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding					4158		chr16	TogoVar
DGKD_chr2_233349494_233477098	233397118	G G	GGCCAGAG others(419): Show GGCCAGAGTGAGAGGACACCAGAGGGGAGCAGGGTGGCTGGCAGAGGCCA GAGTGAGAGGACACCAGAGGGGACCAGGGTGGCTGCGGGGGGGGCCAGAG CGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGGGGGGGGGGTGTCAGAG TGAGAGGACACCAGAGGGGACCAGGGTGGCTGCGGGGGGGGCCAGAGTGA GAGGACTCCAGAGGGGACCAGGGTGGCTGGGGGGGGGGGTGCCAGAGTGA GAGGACTCCAGAGGGGACCAGGGTGGCTGGTAGAGGCCAGAGTGAGAGGA CACCAGAGGGGACCAGGGTGGCTGGCAGAGGCCAGAGTGAGAGGACACCA GAGGGGACCAGGGTGGCTGCGGGGGGGGCCAGAGCGAGAGGACTCCAGAG GGGACCAGGGTGGCTGGGGGGGGGGGT	intron_variant intron_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0294 a0001c0001t0009g0294	1	336	0.0030	426	c.348 others(443): Show c.348+6662_348+6663insGCAGGGTGGCTGGCAGAGGCCAGAGTGA GAGGACACCAGAGGGGACCAGGGTGGCTGCGGGGGGGGCCAGAGCGAGAG GACTCCAGAGGGGACCAGGGTGGCTGGGGGGGGGGGTGTCAGAGTGAGAG GACACCAGAGGGGACCAGGGTGGCTGCGGGGGGGGCCAGAGTGAGAGGAC TCCAGAGGGGACCAGGGTGGCTGGGGGGGGGGGTGCCAGAGTGAGAGGAC TCCAGAGGGGACCAGGGTGGCTGGTAGAGGCCAGAGTGAGAGGACACCAG AGGGGACCAGGGTGGCTGGCAGAGGCCAGAGTGAGAGGACACCAGAGGGG ACCAGGGTGGCTGCGGGGGGGGCCAGAGCGAGAGGACTCCAGAGGGGACC AGGGTGGCTGGGGGGGGGGGTGCCAGAGTGAGAGGACACCAGAGGGGA		DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	3/29					INFO_REALIGN_3_PRIME	chr2	TogoVar
DIDO1_chr20_62872743_62931505	62875284	C C	CCACCCCC others(419): Show CCACCCCCACCCGCACCGGCACCCCCACCCGCACCGGCACCCCCACCCTC ACCCTCACCCCCACCCCCACCCCCACCCCACCCCCACCCCCACCCTCACC CCCACCCCCACCCCACCCCCACCCCCACCCTCACCCCCACCCCCACCCCC ACCCCCACCCCCACCCGCACCGGCACCCCCACCCGCACCGGCACCCCCAC CCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCCGCACC CCCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCCACCCCCACCC CCACCCCCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCC ACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCAC CCCCACCCCCACCCTCACCCCCACCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0011 a0011	a0011c0070 a0011c0070	a0011c0070t0001 a0011c0070t0001	a0011c0070t0001g0130 a0011c0070t0001g0130	1	320	0.0031	426	c.39 others(437): Show c.3948_*3949insAGGGTGGGGGTGAGGGTGGGGGTGGGGGTGGGGG TGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTG GGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGG GGTGGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGGGGGTGCGG GGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGGGGG TGCCGGTGCGGGTGGGGGTGCCGGTGCGGGTGGGGGTGGGGGTGGGGGTG GGGGTGGGGGTGAGGGTGGGGGTGGGGGTGGGGTGGGGGTGGGGGTGAGG GTGGGGGTGGGGGTGGGGTGGGGGTGGGGGTGGGGGTGAGGGTGAGGGTG GGGGTGCCGGTGCGGGTGGGGGTGCCGGTGCGGGTGGGGGTG		DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding					2458		chr20	TogoVar
DLGAP2_chr8_732628_1713476	1695316	A A	AAGGGGGC others(419): Show AAGGGGGCACAGCCATGCCTGGCCCTACAGAAAGAGGGGGCACAGCCATG CCCGGCCCTACAGAAAGAGGGGGCACAGCCTTACCCGGCCCTACAGAAAG AGGGGGCACAGCCATGTCCGGCCCTACAGAAAGAGGGTGCACAGCCATGC CTGGCACTACAGAAAGAGGGGGCACAGCCATGCCCGGCCCTACAGAAAGA GGGGGCACAGCCTTACCCGGCCCTACAGAAAGAGGGGGCACAGCCATGTC CGGCCCTACAGAAAGAGGGTGCACAGCCATGCCTGGCACTACAGAAAGAG GGGCACAGCCATGACCGGCCCTACAGAAACAGGGGGCACAGCCATGCCCG GCCCTACAGAAAGAGGGGGCACAGTCATGCCCGGCCCTACAGAAAGGGGG CACAGCCATGCCCGGCCCTACAGAAAG	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0018 a0002c0004t0018	a0002c0004t0018g0010 a0002c0004t0018g0010	1	40	0.0250	426	c.279 others(445): Show c.2797-1813_2797-1812insTGGCCCTACAGAAAGAGGGGGCACAG CCATGCCCGGCCCTACAGAAAGAGGGGGCACAGCCTTACCCGGCCCTACA GAAAGAGGGGGCACAGCCATGTCCGGCCCTACAGAAAGAGGGTGCACAGC CATGCCTGGCACTACAGAAAGAGGGGGCACAGCCATGCCCGGCCCTACAG AAAGAGGGGGCACAGCCTTACCCGGCCCTACAGAAAGAGGGGGCACAGCC ATGTCCGGCCCTACAGAAAGAGGGTGCACAGCCATGCCTGGCACTACAGA AAGAGGGGCACAGCCATGACCGGCCCTACAGAAACAGGGGGCACAGCCAT GCCCGGCCCTACAGAAAGAGGGGGCACAGTCATGCCCGGCCCTACAGAAA GGGGGCACAGCCATGCCCGGCCCTACAGAAAGAGGGGGCACAGCCATGCC		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	13/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DOCK8_chr9_209865_470255	400154	C C	CCACCACC others(419): Show CCACCACCTCCACCATCACCACCACCACCTCCACCATCACCACCACCTCC ACCATCACCATCACCTCCACCACCACCAGCATCTTCACCACCACCACCAC CTCCACCATCACCACCACCACCTCCACCATCACCACCTCCTTCACCATCA CCATCACCATCACCACCACCTCCACCATCACCACCACCACCTCCACCATC ACCACCACCTCCACCACCACCACCATCACCTCCACCATCACCACCACCTC CACCATCACCACCACCACCTCCACCATCACCACCACCACCTCCACCATCA CCACCTCCTTCACCATCACCATCACCATCACCACCACCTCCACCATCACC ACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCACCACCTC CACCATCACCACCACCACCTCCACCAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0029 a0029	a0029c0137 a0029c0137	a0029c0137t0001 a0029c0137t0001	a0029c0137t0001g0155 a0029c0137t0001g0155	1	256	0.0039	426	c.323 others(443): Show c.3234+902_3234+903insTCCACCATCACCACCACCACCTCCACCA TCACCACCACCTCCACCATCACCATCACCTCCACCACCACCAGCATCTTC ACCACCACCACCACCTCCACCATCACCACCACCACCTCCACCATCACCAC CTCCTTCACCATCACCATCACCATCACCACCACCTCCACCATCACCACCA CCACCTCCACCATCACCACCACCTCCACCACCACCACCATCACCTCCACC ATCACCACCACCTCCACCATCACCACCACCACCTCCACCATCACCACCAC CACCTCCACCATCACCACCTCCTTCACCATCACCATCACCATCACCACCA CCTCCACCATCACCACCACCACCTCCACCATCACCACCACCTCCACCATC ACCACCACCACCTCCACCATCACCACCACCACCTCCACCATCACCACC		DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47					INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400975	C C	CACCACCA others(419): Show CACCACCACCTCCACCACCACCACCACCACCACCACCACCACCTCCACCA CCACCACCACCACCACCACCACCACCTCCACCATCACCACCTCCTTCACC ATCACCATCACCTCCACCTCCACCACCACCTCCACCACCACCACCTCCAC CATCACCACCACCTCCACCATCACCACCTCCACCATCACCACCACCTCCA CCATCACCACCACCTCCACCACCACCACCTCCACCACCACCACCACCTCC ACCACCAGCACTTCCACCATCACCACCTCCTTCACCATCACCATCACCAC CACCTCCACCACCACCACCACCTCCACCACCACCCTCACCACCTTCTCCA CCACCACCATCTTCACCATCACCACCATCGCCCTGCCCACCTCTAGCAAT ATTATCACCTTTCCTATCACCTCCAAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0038 a0038	a0038c0167 a0038c0167	a0038c0167t0018 a0038c0167t0018	a0038c0167t0018g0001 a0038c0167t0018g0001	1	256	0.0039	426	c.323 others(445): Show c.3234+1717_3234+1718insCCACCACCTCCACCACCACCACCACC ACCACCACCACCACCTCCACCACCACCACCACCACCACCACCACCACCTC CACCATCACCACCTCCTTCACCATCACCATCACCTCCACCTCCACCACCA CCTCCACCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACC TCCACCATCACCACCACCTCCACCATCACCACCACCTCCACCACCACCAC CTCCACCACCACCACCACCTCCACCACCAGCACTTCCACCATCACCACCT CCTTCACCATCACCATCACCACCACCTCCACCACCACCACCACCTCCACC ACCACCCTCACCACCTTCTCCACCACCACCATCTTCACCATCACCACCAT CGCCCTGCCCACCTCTAGCAATATTATCACCTTTCCTATCACCTCCAATA		DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47					INFO_REALIGN_3_PRIME	chr9	TogoVar
EFNA2_chr19_1280873_1306431	1282784	G G	GAGGGTGG others(419): Show GAGGGTGGGGGGATTGGGAGGGGTGTGTGTTGGGGAGTGGGTGGTGGGTG GGTGGGGTATTAATGGGGGAAGTGAGTGGGAGGGGAGGAGGGTGGGTGGG TTGTTGATGGGGGAGGAGGAGGTGGGTGGGGGGGTTGGTGTGTGGGAGGG GGGAGGTGGTTGGGTGGGTGGGGAGGTGTGGGGGGTGGTGGGTGGGTGGG TGGGGAGGTGTGGGAGGGGTGTGGGGAGGGGGTGGAGGGTGTGAAGGGTG GGTGGTGGGGTTGGGTGGGTGGGGGGTGGGGGGTGTGGGGTGAGGTGTGA GGGGGAGGGAGGGTGGGGTGGAGGGTGGGTGGGGGGTGTGGGGTGGAGGG GGTGGTTGTGAGGGTTGTGGGTGAGGGGGAGGGGGAGGGTGGAGGGTAGT TGGAGGGGAGGAGAGGGGGAGAGGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0072 a0001c0001t0072	a0001c0001t0072g0005 a0001c0001t0072g0005	1	294	0.0034	426	c.-33 others(437): Show c.-3385_-3384insAGGGTGGGGGGATTGGGAGGGGTGTGTGTTGGGG AGTGGGTGGTGGGTGGGTGGGGTATTAATGGGGGAAGTGAGTGGGAGGGG AGGAGGGTGGGTGGGTTGTTGATGGGGGAGGAGGAGGTGGGTGGGGGGGT TGGTGTGTGGGAGGGGGGAGGTGGTTGGGTGGGTGGGGAGGTGTGGGGGG TGGTGGGTGGGTGGGTGGGGAGGTGTGGGAGGGGTGTGGGGAGGGGGTGG AGGGTGTGAAGGGTGGGTGGTGGGGTTGGGTGGGTGGGGGGTGGGGGGTG TGGGGTGAGGTGTGAGGGGGAGGGAGGGTGGGGTGGAGGGTGGGTGGGGG GTGTGGGGTGGAGGGGGTGGTTGTGAGGGTTGTGGGTGAGGGGGAGGGGG AGGGTGGAGGGTAGTTGGAGGGGAGGAGAGGGGGAGAGGAGA		EFNA2	ENSG00000099617.4	transcript	ENST00000215368.4	protein_coding					3088		chr19	TogoVar
EML1_chr14_99788413_99947060	99927955	A A	AGGTGGTG others(419): Show AGGTGGTGGTGGTGGAGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGAG GTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGA GGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGA TGGTGGTGATGGTGGTGGAGGTGGTGGTGGTGATGGTGGTGATGGTGGTG GTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGA GGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGG AGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATG GTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGT GGTGGTGGTGGTGGTGGTGGTGATGGT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0008 a0003c0002t0008	a0003c0002t0008g0238 a0003c0002t0008g0238	1	288	0.0035	426	c.190 others(445): Show c.1909+7092_1909+7093insAGGTGGTGATGGTGGTGGTGGTGGTG GTGGTGGAGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGT GGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGG TGGTGGTGATGGTGGTGATGGTGGTGGAGGTGGTGGTGGTGATGGTGGTG ATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGT GGTGGTGGAGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGG TGGTGGTGGAGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTG GTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGT GGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGG		EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21					INFO_REALIGN_3_PRIME	chr14	TogoVar
FAM174C_chr19_1270530_1284228	1282690	A A	AGGAGGGT others(419): Show AGGAGGGTGTGAAGGGGAAGGAGGGAGGGGAGGATTGGAAAGGGGAGGAA GGTGTAAAAGAGGGAGAGAGGAAGGAAGGGAGGGGGTATTAATGGGGAAG AGAGTGGGAAGGGGGAGGAGGGAGGGGAGGGTAGTATGAAGGGGGAAGGA AGGAGGGAGGGGAGAAGGGTGGGAAGGGGAGGAAGGAGAGAGGGAGGGAG GGGAAGGTGTGAAGGGAAGGAGGGAGGGGAGGTGGGAGGGAAGTAGGGAG GGGGAGGGAGGGGGAAAGGTGTGTAGGGAAGGAGGGAGGAGGTGGGAGGA GGGTGGGAGGGAGGGTGGGTAGGGGGAGGGTGGTGGGTGGGTGGTGGGTT TGGGTGAGTGGGTGGGTGGGAGGTGGGTTGAAGGTGGTGAAGGGAGAGGG GAGGGGTGGAGGGGGGTAGGGAGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	254	0.0039	426	c.39 others(437): Show c.3913_*3914insGGAGGGTGTGAAGGGGAAGGAGGGAGGGGAGGAT TGGAAAGGGGAGGAAGGTGTAAAAGAGGGAGAGAGGAAGGAAGGGAGGGG GTATTAATGGGGAAGAGAGTGGGAAGGGGGAGGAGGGAGGGGAGGGTAGT ATGAAGGGGGAAGGAAGGAGGGAGGGGAGAAGGGTGGGAAGGGGAGGAAG GAGAGAGGGAGGGAGGGGAAGGTGTGAAGGGAAGGAGGGAGGGGAGGTGG GAGGGAAGTAGGGAGGGGGAGGGAGGGGGAAAGGTGTGTAGGGAAGGAGG GAGGAGGTGGGAGGAGGGTGGGAGGGAGGGTGGGTAGGGGGAGGGTGGTG GGTGGGTGGTGGGTTTGGGTGAGTGGGTGGGTGGGAGGTGGGTTGAAGGT GGTGAAGGGAGAGGGGAGGGGTGGAGGGGGGTAGGGAGGGAG		FAM174C	ENSG00000228300.14	transcript	ENST00000409293.6	protein_coding					3463		chr19	TogoVar

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