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
FERMT1_chr20_6069845_6128030	6125413	C C	CTGTCCTA others(708): Show CTGTCCTAGGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAGGGGGTTT TATTTTTTTATTATTTTTTTATTTTTTTTTATTTATTTATTTATTTTTTT TATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTA CATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCAT CTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCC CACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCT CATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTT GTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTC CCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCAT GGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATT TGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATA CGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGTATAT ACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCC TGAGGAATTGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCC CACCAACAGTGTAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02896.hp1 HG02809.hp2 HG02896.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0027 a0001c0003t0010g0030 a0001c0003t0010g0027 a0001c0003t0010g0030	2	357	0.0056	715	c.-26 others(726): Show c.-2659_-2658insTTTTACACTGTTGGTGGGACTGTAAACTAGTTCA ACCATTGTGGAAGTCAGTGTGGCAATTCCTCAGGGATCTAGAACTAGAAA TACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGAGTAT AAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACT ATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAG ACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCC ATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATTGGA AACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCA TATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGG AAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGA GGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAGTGGGTG CAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATG TGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAATAAATAAATAA ATAAAAAAAAATAAAAAAATAATAAAAAAATAAAACCCCCTAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAGCCTAGGACA	FERMT1	ENSG00000101311.17	transcript	ENST00000217289.9	protein_coding		2384		chr20	TogoVar
FLT3_chr13_27998274_28105576	27998945	T T	TTATATGC others(708): Show TTATATGCATATACATATATATTTATATGCATATAAATATATATTTATAT GCATATAAATATATATGTATATACATATAAATATATGTATATACATATAA ATATATATGTATATACATATAAATATATATGTATATACATATATATATGT ATATACATATATATATGTATATACATATATATATGTATATACATATATAT ATATGTATATACATATAAATATATATGTATATACATATAAATATATATGT ATATACATATAAATATATATGTATATACATATAAATATATATGTATGTAT ATTATATACATATAAATATATATATTTATATACATATAAATATATATATT TATATACATATAAATATATATATTTATATACATATAAATATATATATTTA TATACATATAAATATATATATTTATATACATATAAATATATATATTTATA TACATATAAATATATATTTATATACATATAAATATATATTTATATACATA TAAATATATATTTATATACATATAAATATATATTTACATACATATAAATA TATATTTACATACATATAAATATATACATTTATATACATATAAATATATA CATATATACATATAAATATATATTTATATACATATAAATATATATATTTA TATATATTTATATATATATAAATATATATATATTTATATATATATAAATA TATATATATTTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0026 a0002c0026	a0002c0026t0001 a0002c0026t0001	a0002c0026t0001g0175 a0002c0026t0001g0175	1	223	0.0045	715	c.51 others(726): Show c.5106_*5107insTATATAAATATATATATATTTATATATATATAAA TATATATATATTTATATATATATAAATATATATAAATATATATATTTATA TGTATATAAATATATATTTATATGTATATATGTATATATTTATATGTATA TAAATGTATATATTTATATGTATGTAAATATATATTTATATGTATGTAAA TATATATTTATATGTATATAAATATATATTTATATGTATATAAATATATA TTTATATGTATATAAATATATATTTATATGTATATAAATATATATATTTA TATGTATATAAATATATATATTTATATGTATATAAATATATATATTTATA TGTATATAAATATATATATTTATATGTATATAAATATATATATTTATATG TATATAAATATATATATTTATATGTATATAATATACATACATATATATTT ATATGTATATACATATATATTTATATGTATATACATATATATTTATATGT ATATACATATATATTTATATGTATATACATATATATATATGTATATACAT ATATATATGTATATACATATATATATGTATATACATATATATATGTATAT ACATATATATTTATATGTATATACATATATATTTATATGTATATACATAT ATTTATATGTATATACATATATATTTATATGCATATAAATATATATTTAT ATGCATATAAATATATATGTATATGCATATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4328		chr13	TogoVar
FLT3_chr13_27998274_28105576	27998959	A A	ATATATAT others(708): Show ATATATATTTATATACATATAAATATATATGTATATACATATAAATATAT GTATATACATATAAATATATATGTATATACATATAAATATATATGTATAT ACATATATATATGTATATACATATAAATATATATGTATATACATATATAT ATGTATATACATATATATATATGTATATACATATATATATGTATATACAT ATATATATATGTATATACATATAAATATGTATATACATATAAATATATAT GTATATACATATAAATATATATGTATATACATATAAATATATATGTATAT ACATATAAATATATATGTATGTATATTATATACATATAAATATATATATT TATATACATATAAATATATATATTTATATACATATAAATATATATATTTA TATACATATAAATATATATATTTATATACATATAAATATATATTTATATA CATATAAATATATATTTATATACATATAAATATATATATTTATATACATA TAAATATATATTTACATACATATAAATATATATTTACATACATATAAATA TATACATTTATATACATATAAATATATACATATATACATATAAATATATA TTTATATACATATAAATATATATATTTATATATATTTATATATATATAAA TATATATATATTTGTATATATATATAAATATATATATATTTATATATATA TAAATATATATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0005 a0005	a0005c0018 a0005c0018	a0005c0018t0002 a0005c0018t0002	a0005c0018t0002g0187 a0005c0018t0002g0187	1	277	0.0036	715	c.50 others(726): Show c.5092_*5093insAATATATATATATTTATATATATATAAATATATA TATATTTATATATATATACAAATATATATATATTTATATATATATAAATA TATATAAATATATATATTTATATGTATATAAATATATATTTATATGTATA TATGTATATATTTATATGTATATAAATGTATATATTTATATGTATGTAAA TATATATTTATATGTATGTAAATATATATTTATATGTATATAAATATATA TATTTATATGTATATAAATATATATTTATATGTATATAAATATATATTTA TATGTATATAAATATATATATTTATATGTATATAAATATATATATTTATA TGTATATAAATATATATATTTATATGTATATAAATATATATATTTATATG TATATAATATACATACATATATATTTATATGTATATACATATATATTTAT ATGTATATACATATATATTTATATGTATATACATATATATTTATATGTAT ATACATATTTATATGTATATACATATATATATATGTATATACATATATAT ATGTATATACATATATATATATGTATATACATATATATATGTATATACAT ATATATTTATATGTATATACATATATATATGTATATACATATATATTTAT ATGTATATACATATATATTTATATGTATATACATATATTTATATGTATAT ACATATATATTTATATGTATATAAATATATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4314		chr13	TogoVar
FLT3_chr13_27998274_28105576	27999091	G G	GTATATAC others(708): Show GTATATACATATATATATATATGTATATACATATAAATATATATGTATAT ACATATAAATATATATGTATGTATATTATATACATATAAATATATATATT TATATACATATAAATATATATATTTATATACATATAAATATATATATTTA TATACATATAAATATATATATTTATATACATATAAATATATATTTATATA CATATAAATATATATATTTATATACATATAAATATATATTTATATACATA TAAATATATATTTATATACATATAAATATATATATTTATATACATATAAA TATATATTTATATACATATAAATATATATATTTATATACATATAAATATA TATTTACATACATATAAATATATATTTACATACATATAAATATATACATT TATATACATATAAATATATACATATATACATATAAATATATATTTATATA CATATAAATATATATTTATATACATATAAATATATATATTTATATATATT TATATATATATAAATATATATATATTTGTATATATATAAATATATATATA TTTATATATATATACATATAAATATATATTTATATACATATAAATATATA ATTATATACATATAAATATATAATTATATACATATAAATATATATAATTA TATACATATAAATATATATTTATATACATATAAATTTATATACATATAAA TATAAATATTTATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0143 a0001c0001t0002g0143	1	28	0.0357	715	c.49 others(726): Show c.4960_*4961insAATATAAATATTTATATTTATATGTATATAAATT TATATGTATATAAATATATATTTATATGTATATAATTATATATATTTATA TGTATATAATTATATATTTATATGTATATAATTATATATTTATATGTATA TAAATATATATTTATATGTATATATATATAAATATATATATATTTATATA TATACAAATATATATATATTTATATATATATAAATATATATAAATATATA TATTTATATGTATATAAATATATATTTATATGTATATAAATATATATTTA TATGTATATATGTATATATTTATATGTATATAAATGTATATATTTATATG TATGTAAATATATATTTATATGTATGTAAATATATATTTATATGTATATA AATATATATATTTATATGTATATAAATATATATTTATATGTATATAAATA TATATATTTATATGTATATAAATATATATTTATATGTATATAAATATATA TTTATATGTATATAAATATATATATTTATATGTATATAAATATATATTTA TATGTATATAAATATATATATTTATATGTATATAAATATATATATTTATA TGTATATAAATATATATATTTATATGTATATAAATATATATATTTATATG TATATAATATACATACATATATATTTATATGTATATACATATATATTTAT ATGTATATACATATATATATATATGTATATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4182		chr13	TogoVar
GNG13_chr16_793041_805734	795593	T T	TGCTGCCC others(708): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCCAACCACACT GCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGT GGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTG CCCCCGGCCCCGTGCCCCTCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCG GCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGGCCCCGT GCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTT CTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCC CAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCAACCA CACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCGCCCCTC CCCTCCCCCCCCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	8	0.1250	715	c.31 others(726): Show c.3125_*3126insGCGGGGGGGGGGAGGGGAGGGGCGGGGCGGGGCG GCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGG GGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGGGGCCGG GGGCAGCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGG GCAGCCACACGGGCAGTGTGGTTGGGGGGGGGGCACGGGGCCGGGGGCAG CCACACGGGCAGTGTGTTTGGGGGGGAGGGGCACGGGGCCGGGGGCAGCC ACACGGGCAGCACAGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGG CAGCACAGGGGGGAGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGT GTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGT TGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGTTTG GGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGTTTGGGG GGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGAG AAGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGG GGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGTTTGGGGGGGAGGG GCACGGGGCCGGGGGCAGCCACACGGGCAGC	GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding		2447		chr16	TogoVar
GNG13_chr16_793041_805734	795593	T T	TGCTGCCC others(708): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCCAACCACACT GCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGT GGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTG CCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGG CCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCC CCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGT GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCCCCCCAACCACACTGCCCGTGTGGCTGCCCCTGGCCCCGTGCCCCCCC CAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCAACCA CACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCGCCCCTC CCCTCCCCCCCCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	8	0.1250	715	c.31 others(726): Show c.3125_*3126insGCGGGGGGGGGGAGGGGAGGGGCGGGGCGGGGCG GCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGG GGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGGGGCCAG GGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGGGGCCGGGGGCAG CCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCC ACACGGGCAGTGTGGTTGGGGGGGGGGCACGGGGCCGGGGGCAGCCACAC GGGCAGTGTGTTTGGGGGGGAGGGGCACGGGGCCGGGGGCAGCCACACGG GCAGCACAGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGT GTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGT TGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGTTTG GGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGTTTGGGG GGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGAG AAGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGG GGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGTTTGGGGGGGAGGG GCACGGGGCCGGGGGCAGCCACACGGGCAGC	GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding		2447		chr16	TogoVar
GRK4_chr4_2958571_3045760	2961219	T T	TAGTAACT others(708): Show TAGTAACTATATTAATATAGTTAGTATATATTAATATATAGTAACTATAT TAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAG TTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTA ATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAA CTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATA ATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGT ATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATA TAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATA TTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATA GTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATT AATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTA ACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAAT AATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAG TATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATAT ATAGTAACTATATTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp2 NA18957.hp1 NA18989.hp2 HG01361.hp2 NA18957.hp1 NA18989.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0038 a0003c0003t0002g0186 a0003c0003t0002g0247 a0003c0003t0002g0038 a0003c0003t0002g0186 a0003c0003t0002g0247	3	136	0.0221	715	c.-28 others(726): Show c.-2852_-2851insAGTAACTATATTAATATAGTTAGTATATATTAAT ATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACT ATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAAT ATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTAT ATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATA GTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATT AATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGT TAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAA TATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAAC TATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAA TATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTA TATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATAT AGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATAT TAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAG TTAGTATATTAATATATAGTAACTATATTAA	GRK4	ENSG00000125388.20	transcript	ENST00000398052.9	protein_coding		2351		chr4	TogoVar
IQSEC3_chr12_61767_183455	103862	C C	CGGGGCTC others(708): Show CGGGGCTCGGGGGGTAGGTGGGGGCTCAGGAGGGGAGGTGGGACTCAGGA GGGAGAGGTGGAGTTCGGGGGGAGGCGGGGCTCGGGGGGTAGGTGGGGGC TCAGGAGGGGAGGTAGGACTCAGGAGGGAGAGGTGGAGTTCAGGGGGGAG GCAGGGCTGGGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCAGGGGG GAGGCGGGGCTCGGGAGGGGAGGCGGGGGCTCGGGGGGAGGCGGGGCTCA GGGGGGAGGCGGGGCTCAGGAGGGAGAGGTGGAGTTCGGTGGGGAGGCAG GGCTCTGGAGGGGAGGCGGGGGCTCGGGAGGGGAGGCGGGGCTCGGGAGG GGAGGCGGGGCTCGGGAGGGGAGGCGGGGGCTCGGGGGGAGGCGGGGGCT CGGGAGGGGAGGCGGGGGCTCGGGGGGAGGCGGGGCTCAGGGGGGAGGCG GGGGCTCTGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAG GGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGG CTCGGGGGGAGGCGGGGGCTCGGGAGGGGAGGCGGGGGCTCGGGGGGAGG CGGGGCTCAGGGGGGAGGCGGGGGCTCTGGAGGGGAGGCGGGGCTCTGGA GGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGG CTCGGGGGGAGGCGGG	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0009 a0006c0013t0009	a0006c0013t0009g0248 a0006c0013t0009g0248	1	100	0.0100	715	c.623 others(732): Show c.623+4650_623+4651insGGCTCGGGGGGTAGGTGGGGGCTCAGGA GGGGAGGTGGGACTCAGGAGGGAGAGGTGGAGTTCGGGGGGAGGCGGGGC TCGGGGGGTAGGTGGGGGCTCAGGAGGGGAGGTAGGACTCAGGAGGGAGA GGTGGAGTTCAGGGGGGAGGCAGGGCTGGGGGGAGGCGGGGCTCTGGAGG GGAGGCGGGGCTCAGGGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGGCT CGGGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGCTCAGGAGGGAGAGGTG GAGTTCGGTGGGGAGGCAGGGCTCTGGAGGGGAGGCGGGGGCTCGGGAGG GGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGGC TCGGGGGGAGGCGGGGGCTCGGGAGGGGAGGCGGGGGCTCGGGGGGAGGC GGGGCTCAGGGGGGAGGCGGGGGCTCTGGAGGGGAGGCGGGGCTCTGGAG GGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGC TCGGGAGGGGAGGCGGGGGCTCGGGGGGAGGCGGGGGCTCGGGAGGGGAG GCGGGGGCTCGGGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGGCTCTGGA GGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGG CTCTGGAGGGGAGGCGGGGCTCGGGGGGAGGCGGGGG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
KHSRP_chr19_6408102_6429811	6429376	G G	GGAAGGGA others(708): Show GGAAGGGAGGTGGAGGGAGAAAAGAGGAGGAGGAGGAAGGAAAGAAGGAG AAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGGAG AAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGAGA AAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGAGG GACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGTGA AGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAGGA GGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAGGA GGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAGGG GAGGAGGAGAGAAGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAGGAGAG AGGAGGAGGGGAGGAGGAGAGAAGAGGAAGGAGGGGAGGAGGAGAGAAGA GGGGAGGAGGAGAGGAAGGAAGAGAGGAGGAGGAGGAGAGGAAGGAGGAG GGGAGGAGGAGGCAGAAAGGAGGAAGGAGGGGAGGAGGAGAGGAAAGAGT CCGGGAGGAGGAGGGAGAAAGGAGGAGGGGAGGAGGAGGGAGAAAGGAGG AGGGGAGGAGGAGGGAGAAAGGAGGAGGGGAGGAGGAGGGAGAAAGGAAG AGGGGAGGAGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0128 a0001c0001t0012g0128	1	5	0.2000	715	c.-46 others(726): Show c.-4676_-4675insTCCCTCCTCCTCCCCTCTTCCTTTCTCCCTCCTC CTCCCCTCCTCCTTTCTCCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCTC CTCCCCTCCTCCTTTCTCCCTCCTCCTCCCGGACTCTTTCCTCTCCTCCT CCCCTCCTTCCTCCTTTCTGCCTCCTCCTCCCCTCCTCCTTCCTCTCCTC CTCCTCCTCTCTTCCTTCCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCCC TCCTTCCTCTTCTCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCCT CCTCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCTTCTCTCCTCCTC CCCTCTTCTCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCCTCCTTTC TCCCTCCTCCTCCCTTCCTTTCTCCCTCCTCCTCCTTCCCTCCTCCTTTC TCTTCTTTTCTCCCACTTCTCCCTCCTCCCCTTCACTTCCTCCTCCTCCC CTTTCTCCCTCCTCCTCTTCTCCTCTTTTGTCCCTCCTCTCCCTCCTCCC TTTCACCTTTTCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCCCCTCCCCT CATCTTTTCTCCCTCCTCCTCCTCTCCTCTTTCTCCTCCTCTATTCTCCC TCCTCTCCCTTCTCCCCCTTCACTTCTTCCTTCTCCTTCTTTCCTTCCTC CTCCTCCTCTTTTCTCCCTCCACCTCCCTTC	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4566		chr19	TogoVar
KIF25_chr6_167992671_168050091	167997264	G G	GCGGGGGA others(708): Show GCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGG TCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGG GCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGG ACGGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGG CGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCG GGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGGCGG GGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGG GGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGG GAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGCGACGGG GGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGG GGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGG GAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGA ATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAAT CTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATC TGCAGAGATGGGGCGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	296	0.0034	715	c.-22 others(726): Show c.-2205_-2204insCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATC TGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAA TCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAAT CTGCAGAGATGGGGGACGGGGGGAATCTGCAGAGATGGGGGCGGGGGAAT CTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCT GCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTG CAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGC AGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCA GAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAG AGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCA GAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAG AGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGA GGTGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGA TGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATG GGGGGCGGGGGAATCTGCAGAGATGGGGCGA	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		406		chr6	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(708): Show TCCTCTCCCTCTCCCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTC CCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCT CCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTC CTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTC CCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCT CCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTGTCCC TCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTC CCTCCTCTCCCTCTCCCTCCTCTCCCTCCTCTCCCTCACTCTCCCTCTCC CTCACTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	77	0.0130	715	c.-27 others(726): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGACAGGGAGAGGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAG AGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAG GGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGA GGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG AGGGAGAGGGAGAGGGAGGGAGAGGGAGAGG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2705		chr12	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(708): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTC CCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTC CCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCT CCCTCTCCTCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTGTCCC TCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTC CCTCCTCTCCCTCTCCCTCCTCTCCCTCCTCTCCCTCACTCTCCCTCTCC CTCACTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	77	0.0130	715	c.-27 others(726): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGACAGGGAGAGGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGAGAGGAGAGGGAGAGGGAGAGGAGGGAGA GGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGA GAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGA GGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGG AGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAG GAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2705		chr12	TogoVar
LHFPL3_chr7_104323603_104913561	104824186	T T	TATATATA others(708): Show TATATATATTATATATTATATATTATATATATAATATATATATTATATAT TATATATATAATATATATATTATATATTATATATATAATATATATTATAT ATTATATATAATATATTATATATTATATATTATATATATAATATATTATA TATTATATATTATATATATATTATATTATATATTATATATAATATATTAT ATATTATATATTATATATATAATATATTATATATTATATATTATATATAT ATTATATTATATATTATATATAATTATATATATATTATATATTATATATT ATATATTATATATTATATATTATATATATTATATATTATATATTATATAT TATATATATTATATATTATATATACAATTATATATATTATATATATTATA TATTATATAATATATTATATATATAATATATATTATATATTATATATTAT ATAATATATTATATATATAATATATTATATATTATATATTATATAATATA TTATATATTATATATATTATATATTATATATTATATATTATATATATAAT ATATATTATATATTATATATTATATATATTATATATATTATATATATTAT ATATAATATATATAATTGTATATATAATATATAATATATAATATATATAA TATATAATATATAATATATAATATATATAATATATTATATATAATATATA ATATATAATATATATA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0020 a0001c0001t0005g0020	1	78	0.0128	715	c.683 others(734): Show c.683-81995_683-81994insATTATATATTATATATTATATATATA ATATATATATTATATATTATATATATAATATATATATTATATATTATATA TATAATATATATTATATATTATATATAATATATTATATATTATATATTAT ATATATAATATATTATATATTATATATTATATATATATTATATTATATAT TATATATAATATATTATATATTATATATTATATATATAATATATTATATA TTATATATTATATATATATTATATTATATATTATATATAATTATATATAT ATTATATATTATATATTATATATTATATATTATATATTATATATATTATA TATTATATATTATATATTATATATATTATATATTATATATACAATTATAT ATATTATATATATTATATATTATATAATATATTATATATATAATATATAT TATATATTATATATTATATAATATATTATATATATAATATATTATATATT ATATATTATATAATATATTATATATTATATATATTATATATTATATATTA TATATTATATATATAATATATATTATATATTATATATTATATATATTATA TATATTATATATATTATATATAATATATATAATTGTATATATAATATATA ATATATAATATATATAATATATAATATATAATATATAATATATATAATAT ATTATATATAATATATAATATATAATATATATAATATAT	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
LHPP_chr10_124456823_124619141	124471482	T T	TTATATAT others(708): Show TTATATATATATAAATTTTTTTATATTTATATATTTTTTATATATTTATA TATATTACATATATTTTTATATTTTATATATATTTATATATTTTATATAT TTATATATTTTTTATATATTTATATATTTATATATATATTTATATATATT TATGTATATTTATATATATATTTATATATATTTATGTATATTTATATATA TATTTATATATATTTATGTATATTTATATATATATTTATATATATTTATG TATATTTATATATATTTATATATTTATGTATATATTTATATATATTTATA TATTTATGTATAAATTTATATATATTTATATGTATTTATATATATATTTA TATGTATTTATATATATTTATATATTTATATGTATTTATACATATATATT TATATGTATTTATACATATATATTTATATGTATTTATATATATTTATATA TATTTTTTATGTATTTATATATATTTATATATATATTTATATATATTTAT ATATATATTTATATATATTTATATATATATTTATATATATTTATATATAT ATTTATATATATATTTATATATATTTATATATATATTTATATATATTTAT ATATATTTATATATATATTTATATATATTTATATATATATTTATATATAT ATTTATATATATTTATATATATTTATATATATATTTATATATATATTTAT ATATATATTATTTATA	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	164	0.0061	715	c.125 others(732): Show c.125+9502_125+9503insATATAAATTTTTTTATATTTATATATTT TTTATATATTTATATATATTACATATATTTTTATATTTTATATATATTTA TATATTTTATATATTTATATATTTTTTATATATTTATATATTTATATATA TATTTATATATATTTATGTATATTTATATATATATTTATATATATTTATG TATATTTATATATATATTTATATATATTTATGTATATTTATATATATATT TATATATATTTATGTATATTTATATATATTTATATATTTATGTATATATT TATATATATTTATATATTTATGTATAAATTTATATATATTTATATGTATT TATATATATATTTATATGTATTTATATATATTTATATATTTATATGTATT TATACATATATATTTATATGTATTTATACATATATATTTATATGTATTTA TATATATTTATATATATTTTTTATGTATTTATATATATTTATATATATAT TTATATATATTTATATATATATTTATATATATTTATATATATATTTATAT ATATTTATATATATATTTATATATATATTTATATATATTTATATATATAT TTATATATATTTATATATATTTATATATATATTTATATATATTTATATAT ATATTTATATATATATTTATATATATTTATATATATTTATATATATATTT ATATATATATTTATATATATATTATTTATATATATAT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LMF1_chr16_848634_975984	922519	A A	AGTTGCCT others(708): Show AGTTGCCTCGGTTTTCGGGTGTGACGTGATGTTGGTGTCGTGTTGTTGCG AAGGCCCTGTGTGAAAGTCGCCTGGGTTTTCGTGTGTGACATGGTGTTGG CGTCGCATTGTTGCGAAGGCCCTGTGTGAAAGTCGCCTGGGTTTTCGGGT GTGATGTGGTGTTGGCGTCGTGTTGTTGCGAAGGCCCTGTGTGAAAGTCG CCTGGGTTTTCGGGTGTGATGTGGTGTTGGCGTCGTGTTGTTGCGAAGGC CCTGTGTGAAAGTCGCCTGGGTTTTCGGGTGTGATGTGGTGTTGGCGTCG TGTTGTTGCGAAGGCCCTGTGTGAAGGTCGCCTGGGTTTTCGGGTGTGAT GTGGTGTTGGTGTCGTGTTGTTGCGAAGGCCCTGTGTGAAGGTCGCCTCG GTTTTCGGGTGTGATGTGGTGTTGGTGTCGTGTTGTTGCGAAGGCCCTGT GTGAAAGTCGCCGGGGTTTTCGGGTGTGATGTGGTGTTGGTGTCGTGTTG TTGCGAAGGCCCTGTGTGAAGGTCGCCTGGGTTTTCGGGTGTGATGTGGT GTTGGTGTCGTGTTGTTGCGAAGGCCCTGTGTGAAGGTCGCCTCGGTTTT CGGGTGTGATGTGGTGTTGGTGTCGTGTTGTTGCGAAGGCCCTGTGTGAA AGTCGCCTGGGTTTTCGGGTGTGATGTGGTGTTGGTGTCGTGTTGTTGAG AAGGCCCTGTGTGAAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01069.hp2 HG01261.hp2 others(2): Show HG00099.hp2 HG01069.hp2 HG01261.hp2 HG01515.hp1 HG01517.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0001 a0003c0009t0001	a0003c0009t0001g0001 a0003c0009t0001g0002 a0003c0009t0001g0003 others(2): Show a0003c0009t0001g0001 a0003c0009t0001g0002 a0003c0009t0001g0003 a0003c0009t0001g0005 a0003c0009t0001g0006	5	279	0.0179	715	c.515 others(734): Show c.515-11441_515-11440insCTTCACACAGGGCCTTCTCAACAACA CGACACCAACACCACATCACACCCGAAAACCCAGGCGACTTTCACACAGG GCCTTCGCAACAACACGACACCAACACCACATCACACCCGAAAACCGAGG CGACCTTCACACAGGGCCTTCGCAACAACACGACACCAACACCACATCAC ACCCGAAAACCCAGGCGACCTTCACACAGGGCCTTCGCAACAACACGACA CCAACACCACATCACACCCGAAAACCCCGGCGACTTTCACACAGGGCCTT CGCAACAACACGACACCAACACCACATCACACCCGAAAACCGAGGCGACC TTCACACAGGGCCTTCGCAACAACACGACACCAACACCACATCACACCCG AAAACCCAGGCGACCTTCACACAGGGCCTTCGCAACAACACGACGCCAAC ACCACATCACACCCGAAAACCCAGGCGACTTTCACACAGGGCCTTCGCAA CAACACGACGCCAACACCACATCACACCCGAAAACCCAGGCGACTTTCAC ACAGGGCCTTCGCAACAACACGACGCCAACACCACATCACACCCGAAAAC CCAGGCGACTTTCACACAGGGCCTTCGCAACAATGCGACGCCAACACCAT GTCACACACGAAAACCCAGGCGACTTTCACACAGGGCCTTCGCAACAACA CGACACCAACATCACGTCACACCCGAAAACCGAGGCAAC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	3/10			chr16	TogoVar
LMF1_chr16_848634_975984	922519	A A	AGTTGCCT others(708): Show AGTTGCCTCGGTTTTCGGGTGTGACGTGATGTTGGTGTCGTGTTGTTGCG AAGGCCCTGTGTGAAAGTCGCCTGGGTTTTCGTGTGTGACGTGGTGTTGG CGTCGCATTGTTGCGAAGGCCCTGTGTGAAAGTCGCCTGGGTTTTCGGGT GTGATGTGGTGTTGGCGTCGTGTTGTTGCGAAGGCCCTGTGTGAAAGTCG CCTGGGTTTTCGGGTGTGATGTGGTGTTGGCGTCGTGTTGTTGCGAAGGC CCTGTGTGAAAGTCGCCTGGGTTTTCGGGTGTGATGTGGTGTTGGCGTCG TGTTGTTGCGAAGGCCCTGTGTGAAGGTCGCCTGGGTTTTCGGGTGTGAT GTGGTGTTGGTGTCGTGTTGTTGCGAAGGCCCTGTGTGAAGGTCGCCTCG GTTTTCGGGTGTGATGTGGTGTTGGTGTCGTGTTGTTGCGAAGGCCCTGT GTGAAAGTCGCCGGGGTTTTCGGGTGTGATGTGGTGTTGGTGTCGTGTTG TTGCGAAGGCCCTGTGTGAAGGTCGCCTGGGTTTTCGGGTGTGATGTGGT GTTGGTGTCGTGTTGTTGCGAAGGCCCTGTGTGAAGGTCGCCTCGGTTTT CGGGTGTGATGTGGTGTTGGTGTCGTGTTGTTGCGAAGGCCCTGTGTGAA AGTCGCCTGGGTTTTCGGGTGTGATGTGGTGTTGGTGTCGTGTTGTTGAG AAGGCCCTGTGTGAAG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02738.hp1 HG00733.hp2 HG02738.hp1	a0003 a0003	a0003c0009 a0003c0032 a0003c0009 a0003c0032	a0003c0009t0001 a0003c0032t0001 a0003c0009t0001 a0003c0032t0001	a0003c0009t0001g0004 a0003c0032t0001g0007 a0003c0009t0001g0004 a0003c0032t0001g0007	2	276	0.0072	715	c.515 others(734): Show c.515-11441_515-11440insCTTCACACAGGGCCTTCTCAACAACA CGACACCAACACCACATCACACCCGAAAACCCAGGCGACTTTCACACAGG GCCTTCGCAACAACACGACACCAACACCACATCACACCCGAAAACCGAGG CGACCTTCACACAGGGCCTTCGCAACAACACGACACCAACACCACATCAC ACCCGAAAACCCAGGCGACCTTCACACAGGGCCTTCGCAACAACACGACA CCAACACCACATCACACCCGAAAACCCCGGCGACTTTCACACAGGGCCTT CGCAACAACACGACACCAACACCACATCACACCCGAAAACCGAGGCGACC TTCACACAGGGCCTTCGCAACAACACGACACCAACACCACATCACACCCG AAAACCCAGGCGACCTTCACACAGGGCCTTCGCAACAACACGACGCCAAC ACCACATCACACCCGAAAACCCAGGCGACTTTCACACAGGGCCTTCGCAA CAACACGACGCCAACACCACATCACACCCGAAAACCCAGGCGACTTTCAC ACAGGGCCTTCGCAACAACACGACGCCAACACCACATCACACCCGAAAAC CCAGGCGACTTTCACACAGGGCCTTCGCAACAATGCGACGCCAACACCAC GTCACACACGAAAACCCAGGCGACTTTCACACAGGGCCTTCGCAACAACA CGACACCAACATCACGTCACACCCGAAAACCGAGGCAAC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	3/10			chr16	TogoVar
MKNK2_chr19_2032471_2056244	2037237	G G	GGCCTCCC others(708): Show GGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCATCCGGCTGA TATCCTGTCTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGCAGGG CGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGC AGATCACAAGGTCAGGATTTCGAGACCAGCCTGGCTAATATGGTGAAACC CCGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCT GTAATCCCAGCTACTCGGGAAGCTGAGGCAGACTCTCTTGAACCCGGGAG GCATAGGTTGCAGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGG GCAATAGAGCAAGACTCCGTTTCAAAAAAAAAAAAAAAAAAAAGGCAGCT GAGCCCTGCAATGGAGTCACCCCAGCTCGCAGGAATGAGGCCACCTGTGT ATGAAGAGCTCAGCTTTTTTTTTTTTTTTTTTTGAGGTGGACTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCATTGCAAACTC TGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGG GATTACAGGTGTGCACCATCACGCCGGGCTAATTTTTGTATTTTTAGTAG AGACAGGGTTTCACCGTGTTTATTAGGCTGGTCTAGAACTGCTGACCTCG TGATCTGCCCGCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0104 a0001c0001t0014g0104	1	82	0.0122	715	c.23 others(726): Show c.2375_*2376insAGAGGCGGGCAGATCACGAGGTCAGCAGTTCTAG ACCAGCCTAATAAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAA TTAGCCCGGCGTGATGGTGCACACCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGTTTGCAATGAGCCGA GATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGAGTCCACCTCA AAAAAAAAAAAAAAAAAAGCTGAGCTCTTCATACACAGGTGGCCTCATTC CTGCGAGCTGGGGTGACTCCATTGCAGGGCTCAGCTGCCTTTTTTTTTTT TTTTTTTTTGAAACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTGCAGTG GCGCGATCTTGGCTCACTGCTGCAACCTATGCCTCCCGGGTTCAAGAGAG TCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGC CTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAGCC AGGCTGGTCTCGAAATCCTGACCTTGTGATCTGCTCGCCTCGGCCTCCCA AAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCTGCCCTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTAAGACAGGATATCAGCCGGATGCAGTGGC TCATGCCTGTAATCCCAGCACTTTGGGAGGC	MKNK2	ENSG00000099875.16	transcript	ENST00000250896.9	protein_coding		233		chr19	TogoVar
MKNK2_chr19_2032471_2056244	2037237	G G	GGCCTCCC others(708): Show GGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCATCCGGCTGA TATCCTGTCTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGCAGGGCG CGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGCAG ATCACAAGGTCAGGATTTCGAGACCAGCCTGGCTAATATGGTGAAACCCC GTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGT AATCCCAGCTACTCGGGAAGCTGAGGCAGACTCTCTTGAACCCGGGAGGC ATAGGTTGCAGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGC AATAGAGCAAGACTCCGTTTCAAAAAAAAAAAAAAAAAAAAGGCAGCTGA GCCCTGCAATGGAGTCACCCCAGCTCGCAGGAATGAGGCCACCTGTGTAT GAAGAGCTCAGCTTTTTTTTTTTTTTTTTTTTTGAGGTGGACTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCATTGCAAACTC TGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGG GATTACAGGTGTGCACCATCACGCCGGGCTAATTTTTGTATTTTTAGTAG AGACAGGGTTTCACCGTGTTTATTAGGCTGGTCTAGAACTGCTGACCTCG TGATCTGCCCGCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp1 NA19087.hp1 HG02080.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0010 a0001c0001t0004 a0001c0001t0010	a0001c0001t0004g0005 a0001c0001t0010g0035 a0001c0001t0004g0005 a0001c0001t0010g0035	2	83	0.0241	715	c.23 others(726): Show c.2375_*2376insAGAGGCGGGCAGATCACGAGGTCAGCAGTTCTAG ACCAGCCTAATAAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAA TTAGCCCGGCGTGATGGTGCACACCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGTTTGCAATGAGCCGA GATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGAGTCCACCTCA AAAAAAAAAAAAAAAAAAAAGCTGAGCTCTTCATACACAGGTGGCCTCAT TCCTGCGAGCTGGGGTGACTCCATTGCAGGGCTCAGCTGCCTTTTTTTTT TTTTTTTTTTTGAAACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTGCAG TGGCGCGATCTTGGCTCACTGCTGCAACCTATGCCTCCCGGGTTCAAGAG AGTCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCAC GCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAG CCAGGCTGGTCTCGAAATCCTGACCTTGTGATCTGCTCGCCTCGGCCTCC CAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCTGCCCTTTTTTTT TTTTTTTTTTTTTTTTTTTTTAAGACAGGATATCAGCCGGATGCAGTGGC TCATGCCTGTAATCCCAGCACTTTGGGAGGC	MKNK2	ENSG00000099875.16	transcript	ENST00000250896.9	protein_coding		233		chr19	TogoVar
MKNK2_chr19_2032471_2056244	2037237	G G	GGCCTCCC others(708): Show GGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCATCCGGCTGA TATCCTGTCTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGCAGGGCGC GGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGCAGA TCACAAGGTCAGGATTTCGAGACCAGCCTGGCTAATATGGTGAAACCCCG TCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTA ATCCCAGCTACTCGGGAAGCTGAGGCAGACTCTCTTGAACCCGGGAGGCA TAGGTTGCAGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCA ATAGAGCAAGACTCCGTTTCAAAAAAAAAAAAAAAAAAAAGGCAGCTGAG CCCTGCAATGGAGTCACCCCAGCTCGCAGGAATGAGGCCACCTGTGTATG AAGAGCTCAGCTTTTTTTTTTTTTTTTTTTTTTGAGGTGGACTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCATTGCAAACTC TGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGG GATTACAGGTGTGCACCATCACGCCGGGCTAATTTTTGTATTTTTAGTAG AGACAGGGTTTCACCGTGTTTATTAGGCTGGTCTAGAACTGCTGACCTCG TGATCTGCCCGCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0087 a0001c0001t0026g0087	1	82	0.0122	715	c.23 others(726): Show c.2375_*2376insAGAGGCGGGCAGATCACGAGGTCAGCAGTTCTAG ACCAGCCTAATAAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAA TTAGCCCGGCGTGATGGTGCACACCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGTTTGCAATGAGCCGA GATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGAGTCCACCTCA AAAAAAAAAAAAAAAAAAAAAGCTGAGCTCTTCATACACAGGTGGCCTCA TTCCTGCGAGCTGGGGTGACTCCATTGCAGGGCTCAGCTGCCTTTTTTTT TTTTTTTTTTTTGAAACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTGCA GTGGCGCGATCTTGGCTCACTGCTGCAACCTATGCCTCCCGGGTTCAAGA GAGTCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCA CGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTA GCCAGGCTGGTCTCGAAATCCTGACCTTGTGATCTGCTCGCCTCGGCCTC CCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCTGCCCTTTTTTT TTTTTTTTTTTTTTTTTTTTTAAGACAGGATATCAGCCGGATGCAGTGGC TCATGCCTGTAATCCCAGCACTTTGGGAGGC	MKNK2	ENSG00000099875.16	transcript	ENST00000250896.9	protein_coding		233		chr19	TogoVar
MLPH_chr2_237482251_237560322	237544349	T T	TGGGGGGA others(708): Show TGGGGGGACAGTGGTGAGTGGGCACAGTAGTGAGTGGGGGGACAGTGGTG AGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGGACAGTGG TGAGTGGGCACGGTAGTGAGTGGGGGGACAGTGGCAAGTGGGCACAGTGG TGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGCACGGTAG TGAGTGGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGCACGGTAG TGAGTGGGGGCACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTGG TGAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGG TGAGTGGGGGGACAGTGGTGAGTGGGCACAGTAGTGAGTGGGGGGACAGT GGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGGACA GTGGTGAGTGGGCACGGTAGTGAGTGGGGGGACAGTGGCAAGTGGGCACA GTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGCACG GTAGTGAGTGGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGCACG GTAGTGAGTGGGGGCACAGTGGTGAGTGGGGACAGTGGTGAGTTGGGGGA CAGTGGTGAGTGGGTGCACGGTAGTGAGTCGGGGGACAGTGGTGAGTGGG GGAACAGTGGTGAGTG	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0155 a0002c0002t0002g0155	1	228	0.0044	715	c.153 others(734): Show c.1539+1694_1539+1695insGGACAGTGGTGAGTGGGCACAGTAGT GAGTGGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTG GTGAGTGGGGGGACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGGGACAG TGGCAAGTGGGCACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAG TGGTGAGTGGGCACGGTAGTGAGTGGGGGGACAGTGGTGAGTGGGGACAG TGGTGAGTGGGCACGGTAGTGAGTGGGGGCACAGTGGTGAGTGGGGACAG TGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTG GTGAGTGGGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGCACAG TAGTGAGTGGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGAC AGTGGTGAGTGGGGGGACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGGG ACAGTGGCAAGTGGGCACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGG ACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGGGACAGTGGTGAGTGGGG ACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGGCACAGTGGTGAGTGGGG ACAGTGGTGAGTTGGGGGACAGTGGTGAGTGGGTGCACGGTAGTGAGTCG GGGGACAGTGGTGAGTGGGGGAACAGTGGTGAGTGGGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MRTFA_chr22_40405289_40641719	40537879	G G	GGCCGCCC others(708): Show GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTG TCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCTGGGCCAGCCGCCCCGT CTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCCACCCGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGGT CAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTG CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCC CCGTCCAGGAGGGAGGTGGGGGGGGGGGTCAGCCCCCCCGCCCGGACAGC CGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGA GGGGCGCCTCTGCCCA	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0072 a0001c0001t0003g0072	1	59	0.0169	715	c.241 others(734): Show c.241+14226_241+14227insTGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGTCCGGG CGGGGGGGCTGACCCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCCA CCTCCCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGGCTGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGC TGGCCCAGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537879	G G	GGCCGCCC others(708): Show GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTG TCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCTGGGCCAGCCGCCCCGT CTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCCACCCGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCCAGGAGGGAGGTGGGGGGGGGGGGTCAGCCCCCCCGCCCGGACAGC CGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGA GGGGCGCCTCTGCCCA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02572.hp2 HG02809.hp2 others(6): Show HG00741.hp2 HG02572.hp2 HG02809.hp2 HG02895.hp1 NA18612.hp2 NA18952.hp1 NA18959.hp2 NA18971.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0013	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0001 a0001c0013t0001	a0001c0001t0001g0085 a0001c0001t0001g0167 a0001c0001t0001g0168 others(6): Show a0001c0001t0001g0085 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0002g0243 a0001c0002t0001g0214 a0001c0002t0001g0217 a0001c0003t0001g0012 a0001c0003t0001g0194 a0001c0013t0001g0165	9	67	0.1343	715	c.241 others(734): Show c.241+14226_241+14227insTGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGTCCGGG CGGGGGGGCTGACCCCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCA CCTCCCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGGCTGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGC TGGCCCAGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537879	G G	GGCCGCCC others(708): Show GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTG TCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCTGGGCCAGCCGCCCCGT CTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCCACCCGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCCAGGAGGGAGGTGGGGGGGGGGGTCAGCCCCCCCCGCCCGGACAGC CGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGA GGGGCGCCTCTGCCCA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG04204.hp2 HG02145.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0195 a0001c0003t0001g0014 a0001c0001t0001g0195 a0001c0003t0001g0014	2	60	0.0333	715	c.241 others(734): Show c.241+14226_241+14227insTGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGTCCGGG CGGGGGGGGCTGACCCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCA CCTCCCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGGCTGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGC TGGCCCAGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537879	G G	GGCCGCCC others(708): Show GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTG TCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCTGGGCCAGCCGCCCCGT CTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCCACCCGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCCAGGAGGGAGGTGGGGGGGGGGGTCAGCCCCCCCGCCCGGACAGCC GCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGA AGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGA GGGGCGCCTCTGCCCA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01167.hp1 HG01516.hp2 others(5): Show HG01109.hp2 HG01167.hp1 HG01516.hp2 HG02698.hp1 HG03041.hp2 HG03654.hp2 NA18961.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0021	a0001c0001t0001 a0001c0001t0002 a0001c0002t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0004 a0001c0003t0001 a0001c0007t0001 a0001c0021t0002	a0001c0001t0001g0166 a0001c0001t0002g0173 a0001c0002t0004g0162 others(5): Show a0001c0001t0001g0166 a0001c0001t0002g0173 a0001c0002t0004g0162 a0001c0003t0001g0068 a0001c0003t0001g0188 a0001c0003t0001g0213 a0001c0007t0001g0223 a0001c0021t0002g0237	8	66	0.1212	715	c.241 others(734): Show c.241+14226_241+14227insTGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGTCCGG GCGGGGGGGCTGACCCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCA CCTCCCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGGCTGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGC TGGCCCAGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537879	G G	GGCCGCCC others(708): Show GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTG TCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCTGGGCCAGCCGCCCCGT CTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCCACCCGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC TGTCCAGGAGGGAGGTGGGGGGGGGGGGTCAGCCCCCCCGCCCGGACAGC CGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGA GGGGCGCCTCTGCCCA	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	59	0.0169	715	c.241 others(734): Show c.241+14226_241+14227insTGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGTCCGGG CGGGGGGGCTGACCCCCCCCCCCCACCTCCCTCCTGGACAGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCA CCTCCCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGGCTGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGC TGGCCCAGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
NOP14_chr4_2932936_2968406	2961219	T T	TAGTAACT others(708): Show TAGTAACTATATTAATATAGTTAGTATATATTAATATATAGTAACTATAT TAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAG TTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTA ATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAA CTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATA ATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGT ATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATA TAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATA TTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATA GTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATT AATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTA ACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAAT AATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAG TATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATAT ATAGTAACTATATTAA	intron_variant intron_variant	MODIFIER	HG01361.hp1 NA18989.hp2 NA19062.hp2 others(1): Show HG01361.hp1 NA18989.hp2 NA19062.hp2 NA19080.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0005 a0002c0002t0001 a0002c0002t0005	a0002c0002t0001g0047 a0002c0002t0001g0267 a0002c0002t0005g0268 a0002c0002t0001g0047 a0002c0002t0001g0267 a0002c0002t0005g0268	4	279	0.0143	715	c.195 others(732): Show c.195+1905_195+1906insTTAATATAGTTACTATATATTAATATAC TAACTATATTATTAATATAGTTACTATATATTAATATACTAACTATATTA TTAATATAGTTACTATATATTAATATACTAACTATATTATTAATATAGTT ACTATATATTAATATACTAACTATATTATTAATATAGTTACTATATATTA ATATACTAACTATATTATTAATATAGTTACTATATATTAATATACTAACT ATATTATTAATATAGTTACTATATATTAATATACTAACTATATTATTAAT ATAGTTACTATATATTAATATACTAACTATATTATTAATATAGTTACTAT ATATTAATATACTAACTATATTATTAATATAGTTACTATATATTAATATA CTAACTATATTATTAATATAGTTACTATATATTAATATACTAACTATATT ATTAATATAGTTACTATATATTAATATACTAACTATATTATTAATATAGT TACTATATATTAATATACTAACTATATTATTAATATAGTTACTATATATT AATATACTAACTATATTATTAATATAGTTACTATATATTAATATACTAAC TATATTATTAATATAGTTACTATATATTAATATACTAACTATATTATTAA TATAGTTACTATATATTAATATACTAACTATATTATTAATATAGTTACTA TATATTAATATATACTAACTATATTAATATAGTTACT	NOP14	ENSG00000087269.16	transcript	ENST00000416614.7	protein_coding	1/17			chr4	TogoVar
NUDT4B_chr1_148743774_148757415	148745798	C C	CTCTCATA others(708): Show CTCTCATAGAGCATGGGTTACAGGGGGAGGAATAGACAACAGCCCAGAAA AATAAGTCAGGTAAAATGATAAGCGTTGGAAGAATAAAGCAAGGAAGAAC AGGATATGCTAGAGGCTGAGGGATGGGAGGAAGATAGCAAGTTTAAATAC GATTGTCAGGAAAAGAAAGTATCATTGGTTACATTTGAACAAAGATCTGA AGGCAGTGAAGGAACAAACTAATGGATATCTGGGAGAAGAGACTCTGAGG CAGAGGGAAGAGTCAAAAGTCACTGGGGCAGGAGGAGGCCTGTTATATTC AAGAAACAGTTAGGAGGCCTATATGTTCAGAATGGAGTTACAGGAAGAAA AATATCAGATGAAGTCACAGATGGAGGCCAGATGAGGTAGGGCCCAGGAC TAATCAAAGACATTGGCTTTTATACTAAATGAGAAGGAGCCATGGAAACT TTTGAGTAGTGGATGACACATTTAGGTTTTCTTTTTAAATTTTAAATACA TTTTTATTTCAATAACTTTAAGGGTATAAGTGGTGTTTGGTTACATGGAT GAACTGTATAGTGGTGAAGTCTGATATTTTAGTACCCCTGTCACCCAAGT AGTATACATTGTACCCAATATGCAGTTTTTTATCCCTCACCTTCCTCCCA ACCTTCCCCTGTCTGAATCTCAAATGTCCATTATACCACTTTGTAAGCCT TTGTGTACCCATAACT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0000 a0001c0001t0005g0000	1	33	0.0303	715	c.-31 others(726): Show c.-3155_-3154insTCTCATAGAGCATGGGTTACAGGGGGAGGAATAG ACAACAGCCCAGAAAAATAAGTCAGGTAAAATGATAAGCGTTGGAAGAAT AAAGCAAGGAAGAACAGGATATGCTAGAGGCTGAGGGATGGGAGGAAGAT AGCAAGTTTAAATACGATTGTCAGGAAAAGAAAGTATCATTGGTTACATT TGAACAAAGATCTGAAGGCAGTGAAGGAACAAACTAATGGATATCTGGGA GAAGAGACTCTGAGGCAGAGGGAAGAGTCAAAAGTCACTGGGGCAGGAGG AGGCCTGTTATATTCAAGAAACAGTTAGGAGGCCTATATGTTCAGAATGG AGTTACAGGAAGAAAAATATCAGATGAAGTCACAGATGGAGGCCAGATGA GGTAGGGCCCAGGACTAATCAAAGACATTGGCTTTTATACTAAATGAGAA GGAGCCATGGAAACTTTTGAGTAGTGGATGACACATTTAGGTTTTCTTTT TAAATTTTAAATACATTTTTATTTCAATAACTTTAAGGGTATAAGTGGTG TTTGGTTACATGGATGAACTGTATAGTGGTGAAGTCTGATATTTTAGTAC CCCTGTCACCCAAGTAGTATACATTGTACCCAATATGCAGTTTTTTATCC CTCACCTTCCTCCCAACCTTCCCCTGTCTGAATCTCAAATGTCCATTATA CCACTTTGTAAGCCTTTGTGTACCCATAACT	NUDT4B	ENSG00000177144.8	transcript	ENST00000322209.5	protein_coding		2975		chr1	TogoVar
NXN_chr17_794310_984776	952763	A A	AGTCAGAC others(708): Show AGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACAC TGTGGGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAACCCGGCAGGTAC CACGGACGGTCACACTGTGGGGGGGGCTGGAGTCAGAGAGACCAAGGTTG GAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGGCTGGAGTCA GACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGG GGGGGCTGGAGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACGGA CGGTCACACTGTGGGGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAACC CGGCAGGTACCACGGACGGTCACACTGTGGGGGGGGCTGGAGTCAGAGAG ACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGG GCTGGAGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGT CACACTGTGGGGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAACCCGGC AGGTACCACGGACGGTCACACTGTGGGGGGGGGCTGGAGTCAGAGAGACC AAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGCTG GAGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACA CTGTGGGGGGGCTGGG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0037	1	148	0.0068	715	c.360 others(734): Show c.360+26555_360+26556insCCCAGCCCCCCCACAGTGTGACCGTC CGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACTCCAGCCCCCCC ACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTG ACTCCAGCCCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCC AACCTTGGTCTGTCTGACTCCAGCCCCCCCCCACAGTGTGACCGTCCGTG GTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCCCCCCCACA GTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACT CCAGCCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACC TTGGTCTGTCTGACTCCAGCCCCCCCCCACAGTGTGACCGTCCGTGGTAC CTGCCGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCCCCCCACAGTGTG ACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACTCCAGC CCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGT CTCTCTGACTCCAGCCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCG GGTTCCAACCTTGGTCTGTCTGACTCCAGCCCCCCCCACAGTGTGACCGT CCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGAC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
PHACTR3_chr20_59599540_59852711	59821980	G G	GATCCCAC others(708): Show GATCCCACCCCTTCCCCAGCAATCCCACCCCTTCCCCAGCAATCCCACCC CTTCCCCAGCGATCCCACCCCTTCCCCAGCAATCCCACCCCTTCCCCAGC AATCCCACCCCTTCCCCAGCGATCCCACCCCTTCCCCAGCGATCCCACCC CTTCCCCAGCGATCCGCCCCCCAACGATCCCACCCCTTCTCCAGCGATCC CACCCCCTCCGCAGCGATCCCACCCCCTCCGCAGCGATCCCACCCCTTCC CCAGCGATCCCACCCCTTCCCCAGCGATCCCACCCCTTCCCCAGCGATCC CACCCCTTCCCCAGCGATCCCACCCCTTCCCCAGCGATCCCACCCCTTCC CCAGCGATCCCACCCCTTCCCCAGCGATCCCACCCCTTCCCCAGCGATCC CACCCCTTCCCCAGCGATCCCACCCCTTCCCCAGCGATCCCACCCCTTCC CCAGCGATCCCACCCCTTCCCCAGCGATCCCACCCCTTCCCCAGCGATCC CACCCCTTCCCCAGCGATCCCACCCCTTCCCCAGCGATCCCACCCCTTCC CCAGCGATCCCACCCCTTCCCCAGCGATCCCACCCCTTCCCCAGCGATCC CACCCCTTCCCCAGCAATCCCACCCCTTCCCCAGCGATCCCACCCCTTCC CCAGCGATCCCACCCCTTCCCCAGCGATCCCACCCCTTCCCCAGCGATCC CACCCCTTCCCCAGCA	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	115	0.0087	715	c.132 others(736): Show c.1329-14486_1329-14485insAATCCCACCCCTTCCCCAGCGATC CCACCCCTTCCCCAGCAATCCCACCCCTTCCCCAGCAATCCCACCCCTTC CCCAGCGATCCCACCCCTTCCCCAGCGATCCCACCCCTTCCCCAGCGATC CGCCCCCCAACGATCCCACCCCTTCTCCAGCGATCCCACCCCCTCCGCAG CGATCCCACCCCCTCCGCAGCGATCCCACCCCTTCCCCAGCGATCCCACC CCTTCCCCAGCGATCCCACCCCTTCCCCAGCGATCCCACCCCTTCCCCAG CGATCCCACCCCTTCCCCAGCGATCCCACCCCTTCCCCAGCGATCCCACC CCTTCCCCAGCGATCCCACCCCTTCCCCAGCGATCCCACCCCTTCCCCAG CGATCCCACCCCTTCCCCAGCGATCCCACCCCTTCCCCAGCGATCCCACC CCTTCCCCAGCGATCCCACCCCTTCCCCAGCGATCCCACCCCTTCCCCAG CGATCCCACCCCTTCCCCAGCGATCCCACCCCTTCCCCAGCGATCCCACC CCTTCCCCAGCGATCCCACCCCTTCCCCAGCGATCCCACCCCTTCCCCAG CAATCCCACCCCTTCCCCAGCGATCCCACCCCTTCCCCAGCGATCCCACC CCTTCCCCAGCGATCCCACCCCTTCCCCAGCGATCCCACCCCTTCCCCAG CAATCCCACCCCTTCCCCAGCAATCCCACCCCTTCCCCAGC	PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
PIEZO1_chr16_88710338_88790220	88731922	A A	AGAGGGCG others(708): Show AGAGGGCGGGGCGTGGGGATGCACTGAGTCTGGGGAGAGGGCGGGGCATG GGGATGCACTGAGTCTGGGGATGGGCGGGGTGTGGGGATGCACTGAGTCT GGGGGGAGGGGGGGCGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGGTG TGGGGATGCACTGAGTCTGGGGATGGGCGGGGTGTGGGGATGCACTGAGT CTGGGGATGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGCGGGG TGTGGGGATGCACTGAGTCTGGGGATGGGCGGGGTGTGGGGATGCACTGA GTCGGGGGGAGGGTGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGGGG GGTGTGGGGATGCACTGAGTCTGGGGATGGGCGGGGTGTGGGGATGCACT GAGTCTGGGGATGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGC GGGGTGTGGGGATGCACTGAGTCTGGGGGGAGGGGGGGCGTGGGGATGCA CTGAGTCTGGGGAGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGG GGGGGTGTGGGGATGCACTGAGTCTGGGGAGGGGGGGGTGTGGGGATGCA CTGAGTCTGGGGGGAGGGCGGGGCGTGGGGATGCACTGAGTCTGGGGGGA GGGCGGGGCGTGGGGATGCACTGAGTCTGGGGAGGGGGGGGTGTGGGGAT GCACTGAGTCTGGGGG	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA18612.hp2 HG02027.hp1 NA18612.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0010 a0001c0001 a0002c0010	a0001c0001t0001 a0002c0010t0001 a0001c0001t0001 a0002c0010t0001	a0001c0001t0001g0152 a0002c0010t0001g0040 a0001c0001t0001g0152 a0002c0010t0001g0040	2	35	0.0571	715	c.299 others(730): Show c.2992-13_2992-12insCCCCCAGACTCAGTGCATCCCCACACCCCC CCCTCCCCAGACTCAGTGCATCCCCACGCCCCGCCCTCCCCCCAGACTCA GTGCATCCCCACGCCCCGCCCTCCCCCCAGACTCAGTGCATCCCCACACC CCCCCCTCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCCCCAGACT CAGTGCATCCCCACACCCCCCCCTCCCCAGACTCAGTGCATCCCCACGCC CCCCCTCCCCCCAGACTCAGTGCATCCCCACACCCCGCCCTCCCCCAGAC TCAGTGCATCCCCACACCCCGCCCATCCCCAGACTCAGTGCATCCCCACA CCCCGCCCATCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCCCCAG ACTCAGTGCATCCCCACACCCCACCCTCCCCCCGACTCAGTGCATCCCCA CACCCCGCCCATCCCCAGACTCAGTGCATCCCCACACCCCGCCCTCCCCC AGACTCAGTGCATCCCCACACCCCGCCCATCCCCAGACTCAGTGCATCCC CACACCCCGCCCATCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCC CCAGACTCAGTGCATCCCCACGCCCCCCCTCCCCCCAGACTCAGTGCATC CCCACACCCCGCCCATCCCCAGACTCAGTGCATCCCCATGCCCCGCCCTC TCCCCAGACTCAGTGCATCCCCACGCCCCGCCCTC	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	21/50			chr16	TogoVar
PLCB1_chr20_8127266_8889900	8662114	T T	TATATATA others(708): Show TATATATATATAATTATATATAATTATATATAATTATATAATTATATATA ATTGTATATAATTATTTATTATATAATATATATTATTTATTATATAATTA TATAATTATATATTATTTATTATATATTATATAATTATATAATTATATAT TATTTATTATATAATATATAATTATATATTATTTATTATATAATTATATA TTATTTATTATATATATTATTTATTATATAATTATATATTATGTATTATA TAATTATATAATTATATATTATGTATTATATAATTATATATTATGTATTA TATAATTATATAATTATATATTATGTATTATATAATTATATAATTATATA TTATGTATTATATATAATTATATAATATATTATATATTATTTATTATATA ATTATATAATTATATATTATTTATTATATAATTATATAATTATATATTAT TTATTATATAATTATATAATTATATATTATTATATAATTATATAATTATA TATTATTTATTATATAATTATATAATTATATATTATTTATTATATAATTA TATATTATTTATTACATAAATATATATTATTTATTACATAAGTATATATC ACTTATTATATAATTGCATATAATTATTTATTATATAATTGCATATAATT ATTTATTATATAATTGTATATAGTTATTTATTATATAATTGTATATAGTT ATTTATTATATAATTC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0025 a0002c0025	a0002c0025t0001 a0002c0025t0001	a0002c0025t0001g0044 a0002c0025t0001g0044	1	83	0.0120	715	c.862 others(732): Show c.862+3410_862+3411insATATATATATAATTATATATAATTATAT ATAATTATATAATTATATATAATTGTATATAATTATTTATTATATAATAT ATATTATTTATTATATAATTATATAATTATATATTATTTATTATATATTA TATAATTATATAATTATATATTATTTATTATATAATATATAATTATATAT TATTTATTATATAATTATATATTATTTATTATATATATTATTTATTATAT AATTATATATTATGTATTATATAATTATATAATTATATATTATGTATTAT ATAATTATATATTATGTATTATATAATTATATAATTATATATTATGTATT ATATAATTATATAATTATATATTATGTATTATATATAATTATATAATATA TTATATATTATTTATTATATAATTATATAATTATATATTATTTATTATAT AATTATATAATTATATATTATTTATTATATAATTATATAATTATATATTA TTATATAATTATATAATTATATATTATTTATTATATAATTATATAATTAT ATATTATTTATTATATAATTATATATTATTTATTACATAAATATATATTA TTTATTACATAAGTATATATCACTTATTATATAATTGCATATAATTATTT ATTATATAATTGCATATAATTATTTATTATATAATTGTATATAGTTATTT ATTATATAATTGTATATAGTTATTTATTATATAATTC	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	9/31			chr20	TogoVar
PXDN_chr2_1626887_1749515	1706550	A A	ACCTGCCC others(708): Show ACCTGCCCCACTAATAATACAACCTGAGAGCACGCTGCAGTGTTCACCAA TCAGCTCTAAACATCACCTGCCCCACTAATAATACAATCCGAGAGCACAC TTCACTGTTCACCAATCAGCTCTAAGCATCACCTGCCCCACTAATAATAC AATCCGAGAGCACGCTTCACTGTTCACCAATCAGCTCTAAGCATCACCTG CCCCACTAATAATACAATCTGAGAGCACACTTCAGTGTTCACCAATCAGC TCTAAGCATCGCCTGCCCCACTAATAATACAATCTGAGAGCACGCTTCAC TGTTCACCAATCAGCTCTAAGCATCACCTGCCCCACTAATGATACAATCC GAGAGCACGCTTCACTGTTCACCAATCAGCTCTAAGCATCACCTGCCCCA CTAATAATACAATCCGAGAGCACGCTTCACTGTTCACCAATCAGCTCTAA GCATCACCTGCCCCACTAATAATACAATCCGAGAGCATGCTTCACTGTTC ACCAATCAGCTCTAAGCATCACCTGCCCCACTAATAATACAATCTGAGAG CACGCTTCAGTGTTCAGCGATCAGCTCTAAACATCACCTGCCCCACTAAT AATACAATCCGAGAGCACGCTTCACTGTTCACCAATCAGCTCTAAGCATC ACCTGCCCCACTAATAATACAATCTGAGAGCACACTTCAGTGTTCACCAA TCAGCTCTAAGCATCG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01106.hp2 HG02572.hp2 others(1): Show HG00140.hp1 HG01106.hp2 HG02572.hp2 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0011 others(1): Show a0001c0001 a0001c0002 a0001c0011 a0002c0009	a0001c0001t0001 a0001c0002t0003 a0001c0011t0004 others(1): Show a0001c0001t0001 a0001c0002t0003 a0001c0011t0004 a0002c0009t0026	a0001c0001t0001g0162 a0001c0002t0003g0024 a0001c0011t0004g0043 others(1): Show a0001c0001t0001g0162 a0001c0002t0003g0024 a0001c0011t0004g0043 a0002c0009t0026g0237	4	320	0.0125	715	c.201 others(734): Show c.201-13417_201-13416insCGATGCTTAGAGCTGATTGGTGAACA CTGAAGTGTGCTCTCAGATTGTATTATTAGTGGGGCAGGTGATGCTTAGA GCTGATTGGTGAACAGTGAAGCGTGCTCTCGGATTGTATTATTAGTGGGG CAGGTGATGTTTAGAGCTGATCGCTGAACACTGAAGCGTGCTCTCAGATT GTATTATTAGTGGGGCAGGTGATGCTTAGAGCTGATTGGTGAACAGTGAA GCATGCTCTCGGATTGTATTATTAGTGGGGCAGGTGATGCTTAGAGCTGA TTGGTGAACAGTGAAGCGTGCTCTCGGATTGTATTATTAGTGGGGCAGGT GATGCTTAGAGCTGATTGGTGAACAGTGAAGCGTGCTCTCGGATTGTATC ATTAGTGGGGCAGGTGATGCTTAGAGCTGATTGGTGAACAGTGAAGCGTG CTCTCAGATTGTATTATTAGTGGGGCAGGCGATGCTTAGAGCTGATTGGT GAACACTGAAGTGTGCTCTCAGATTGTATTATTAGTGGGGCAGGTGATGC TTAGAGCTGATTGGTGAACAGTGAAGCGTGCTCTCGGATTGTATTATTAG TGGGGCAGGTGATGCTTAGAGCTGATTGGTGAACAGTGAAGTGTGCTCTC GGATTGTATTATTAGTGGGGCAGGTGATGTTTAGAGCTGATTGGTGAACA CTGCAGCGTGCTCTCAGGTTGTATTATTAGTGGGGCAGG	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
SLC25A41_chr19_6421037_6438763	6429376	G G	GGAAGGGA others(708): Show GGAAGGGAGGTGGAGGGAGAAAAGAGGAGGAGGAGGAAGGAAAGAAGGAG AAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGGAG AAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGAGA AAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGAGG GACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGTGA AGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAGGA GGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAGGA GGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAGGG GAGGAGGAGAGAAGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAGGAGAG AGGAGGAGGGGAGGAGGAGAGAAGAGGAAGGAGGGGAGGAGGAGAGAAGA GGGGAGGAGGAGAGGAAGGAAGAGAGGAGGAGGAGGAGAGGAAGGAGGAG GGGAGGAGGAGGCAGAAAGGAGGAAGGAGGGGAGGAGGAGAGGAAAGAGT CCGGGAGGAGGAGGGAGAAAGGAGGAGGGGAGGAGGAGGGAGAAAGGAGG AGGGGAGGAGGAGGGAGAAAGGAGGAGGGGAGGAGGAGGGAGAAAGGAAG AGGGGAGGAGGAGGGA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	2	0.5000	715	c.624 others(730): Show c.624+347_624+348insTCCCTCCTCCTCCCCTCTTCCTTTCTCCCT CCTCCTCCCCTCCTCCTTTCTCCCTCCTCCTCCCCTCCTCCTTTCTCCCT CCTCCTCCCCTCCTCCTTTCTCCCTCCTCCTCCCGGACTCTTTCCTCTCC TCCTCCCCTCCTTCCTCCTTTCTGCCTCCTCCTCCCCTCCTCCTTCCTCT CCTCCTCCTCCTCTCTTCCTTCCTCTCCTCCTCCCCTCTTCTCTCCTCCT CCCCTCCTTCCTCTTCTCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCC TCCTCCTCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCTTCTCTCCT CCTCCCCTCTTCTCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCCTCC TTTCTCCCTCCTCCTCCCTTCCTTTCTCCCTCCTCCTCCTTCCCTCCTCC TTTCTCTTCTTTTCTCCCACTTCTCCCTCCTCCCCTTCACTTCCTCCTCC TCCCCTTTCTCCCTCCTCCTCTTCTCCTCTTTTGTCCCTCCTCTCCCTCC TCCCTTTCACCTTTTCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCCCCTC CCCTCATCTTTTCTCCCTCCTCCTCCTCTCCTCTTTCTCCTCCTCTATTC TCCCTCCTCTCCCTTCTCCCCCTTCACTTCTTCCTTCTCCTTCTTTCCTT CCTCCTCCTCCTCTTTTCTCCCTCCACCTCCCTTC	SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding	4/6			chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784590	G G	GGGAGGGA others(708): Show GGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAAGGAGGGGGGAGGGTG GGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGGGAGGTGAGG GCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAGGAGGGGAAG GGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAGGGGGAAGGG GGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGGAGGGGGAGG GGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGGAGGAGGGAGGGGG AGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAGGGA GGGGAGGGGGAGGGGGAGGAGGGAGGGGAGGGGGAGGGGGAGGAGGGAGG GGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGGGGGGAGGAGGGA GGGGGAGGGGAGGGGAAGGGGGAGGAGGGAGGGGAGGGGAGGGGAAGGGG GGAAGGGGAAGGGGGAGGAGGGAGGGGGAGGGGAGGCGAAGGGGGAGGAG GGAGGGGAGAGGGGAGGGGAGGAGGGAGGGGAGGAGGGAGGGGGAGGGGG AAGGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGGAAGGGGGAAGGGGGAG GAGGGAGGGGAGAGGGGAGGGGGAGGGGGAGAGGGGAGAGGAGGGGGAGG GGGAGGGGTGGCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG03491.hp2 HG03492.hp2 others(2): Show HG00438.hp1 HG03491.hp2 HG03492.hp2 HG03927.hp1 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0001 a0001c0001t0001g0003	5	139	0.0360	715	c.12 others(726): Show c.1221_*1222insTCCCGCCACCCCTCCCCCTCCCCCTCCTCTCCCC TCTCCCCCTCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTCC CCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTCCCCCTCCCCCTCCCTCC TCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCGCCTC CCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCCCCCCTTCCCCTCCCCTCC CCTCCCTCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCCCTCC CCCTTCCCCTTCCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTCC CCCTCCCCTCCCTCCTCCCCCTCCCCCTCCCCTCCCTCCTCCCCTCCCCT CTCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCCCTCCCTCCTCCCCT CCCCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCCTCCCCTTCCC CTCCTCTGCCCTCCCCTCCCCTCTCCCCGTCCCCCTTCCCCCTCCCCTCT CCTCTCCTCCTCACCCCTCCTCTCCCCTCTCCCTTCCCCTCCTCTGCCCT CCCCTCCCTCCTCCCCCTCTCCCCTCCTCTGCCCTCACCTCCCTCCTCCC CCTCTCCCCTCCCTGCCCTGCCCTCCCCTCCCCACCCTCCCCCCTCCTTT CCCCTTCCTTCCTCCCTCCCTCCCTCCCTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1137		chr19	TogoVar
TGM2_chr20_38122385_38170270	38124008	A A	ATATATAT others(708): Show ATATATATAATATACCTATTATATATATAATATACCTATTATATATATAA TATACCTATTATATATATAATATACCTATTATATATAATATACCTATTAT ATATAAAATATACCTATTATATATAATATACCTATTATATACATTATATA TAATATACCTATTATATGCATTATATATAATATACCTATTATATGCATTA TATATAATATACCTATTATATGCATTATATATAATATACCTATTATATGC ATTATATATAATATACCTATTATATGCATTATATATAATATACCTATTAT ATGCATTATATATAATATACCTATTATATGCATTATATAATATATTATAT ATAATATGCATATTATATGTATTATATATTATATATTATATATATAATAT ACATATTATATGTATTATATATAATATATTATATATATAATATACATATT ATATGTATTATATATTATATATAATATACATATTATATATTATATATTAT ATACATATTATATATTATATATTATATATTATATACATATTATATATTAT ATACATATTATATATTATATATTATATACATATTATACATTATATATATC TAAAATATATAATACACATTATATATTATATAATACACATTATATATTAT ATATAATACACATTATATATTATATATAATACACATTATATATTATATAT AATACACATTATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0193 a0001c0001t0004g0193	1	322	0.0031	715	c.62 others(726): Show c.6210_*6211insATATATAATGTGTATTATATATAATATATAATGT GTATTATATATAATATATAATGTGTATTATATATAATATATAATGTGTAT TATATAATATATAATGTGTATTATATATTTTAGATATATATAATGTATAA TATGTATATAATATATAATATATAATATGTATATAATATATAATATGTAT ATAATATATAATATATAATATATAATATGTATATAATATATAATATATAA TATGTATATTATATATAATATATAATACATATAATATGTATATTATATAT ATAATATATTATATATAATACATATAATATGTATATTATATATATAATAT ATAATATATAATACATATAATATGCATATTATATATAATATATTATATAA TGCATATAATAGGTATATTATATATAATGCATATAATAGGTATATTATAT ATAATGCATATAATAGGTATATTATATATAATGCATATAATAGGTATATT ATATATAATGCATATAATAGGTATATTATATATAATGCATATAATAGGTA TATTATATATAATGCATATAATAGGTATATTATATATAATGTATATAATA GGTATATTATATATAATAGGTATATTTTATATATAATAGGTATATTATAT ATAATAGGTATATTATATATATAATAGGTATATTATATATATAATAGGTA TATTATATATATAATAGGTATATTATATATA	TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding		3376		chr20	TogoVar
THADA_chr2_43225851_43601038	43298032	C C	CCCCGGCC others(708): Show CCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCG CCCCATCTGGGAGGGAGGTGGGGGTGTCAGCCCCCCGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCA CCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAA GTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGGATCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGG CGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGTGTGTCAGCCCCCAGCCCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTGGTCAGCCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTA CTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAG GTGAGGGGCGCCTCTG	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0006 a0006	a0006c0015 a0006c0015	a0006c0015t0001 a0006c0015t0001	a0006c0015t0001g0068 a0006c0015t0001g0068	1	66	0.0152	715	c.443 others(734): Show c.4439-4820_4439-4819insCAGAGGCGCCCCTCACCTCCCGGACG GGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGGCTGACCACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCTGG GGGCTGACACACCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGATCCCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGCCG GGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACACCCCCACCTCCCTCCCAGATGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG	THADA	ENSG00000115970.19	transcript	ENST00000405975.7	protein_coding	31/37			chr2	TogoVar
THEG_chr19_356747_381026	377502	C C	CCCCACCC others(708): Show CCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCT GTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCC TCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCC CCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTC TCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGC CTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCCCCGTGCCCCACCC AGCCTCTCCCCCCCCGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCA CCCAGCCTCTCCCCCCCCGTGCCCCACCCAGCCTCTCCCCCCCCGTGCCC CCACCCAGCCTCTCCCCCCCTGTGCCCCCACCCAGCCTCTCCCCCTCTGT GCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCC TGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCC CCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCC CCCCCCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCC TCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAG CCTCTCCCCCTCTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	318	0.0031	715	c.-15 others(726): Show c.-1533_-1532insCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGG GGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAG AGGGGGAGAGGCTGGGTGGGGGCACAGGGGGGGGAGAGGCTGGGTGGGGC ACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGGAGAGGCTGGGTGGG GGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGGGAGAGGCTGGG TGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTG GGTGGGGGCACAGGGGGGGAGAGGCTGGGTGGGGGCACGGGGGGGGAGAG GCTGGGTGGGGCACGGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAG AGGCTGGGTGGGGGCACGGGGGGGGAGAGGCTGGGTGGGGCACGGGGGGG GAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAG GGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACA GAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGC ACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGG GGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGG TGGGGGCACAGAGGGGGAGAGGCTGGGTGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1477		chr19	TogoVar
TMPRSS9_chr19_2355265_2431261	2377642	T T	TCCCCTCC others(708): Show TCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTTCCCTCTCCC CTCCCTCTCCCCTCCCCTTCCCTCCCCCTCTCCCCTCCCCCTTCCCCCTC TCCTACCCCTCCCCCTTACCCTCCCCCTTCCCCCCCTCTGCCCTCCCCTA TCCCCTCCTCTGCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTATCCC CTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTC TCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTC TCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCC TCCCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTCCCCTC CCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCGTCCCCCC TCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCCTCCCCCTCCCCCTCC CCATCCCCCTCCCCCTCCCCCTTCCCCTCCCCTCCCCCTCCCCTCCCCCC CTCCCCTCCCCTCCCCCCTCTCCTCTCCCCTCCCCTCTCCCCTCCCCTCT CCTCCCTTTCCTTCTC	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0003 a0004c0014t0003	a0004c0014t0003g0042 a0004c0014t0003g0042	1	112	0.0089	715	c.-25 others(734): Show c.-25-12108_-25-12107insCCCTCTCCCCTCCCCTCTCCCCTCCC CTTCCCTCTCCCCTCCCTCTCCCCTCCCCTTCCCTCCCCCTCTCCCCTCC CCCTTCCCCCTCTCCTACCCCTCCCCCTTACCCTCCCCCTTCCCCCCCTC TGCCCTCCCCTATCCCCTCCTCTGCCCTCCCCTCTCCCCTCCCCTCCCCC CTCCCCTATCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTC CCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTC TCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCTCCCC TCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCCCCCC TCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCC TCCCGTCCCCCCTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCCTCC CCCTCCCCCTCCCCATCCCCCTCCCCCTCCCCCTTCCCCTCCCCTCCCCC TCCCCTCCCCCCCTCCCCTCCCCTCCCCCCTCTCCTCTCCCCTCCCCTCT CCCCTCCCCTCTCCTCCCTTTCCTTCTCCCCCTCCCCTC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TNFSF13B_chr13_108264718_108313478	108278578	C C	CTCCTCCT others(708): Show CTCCTCCTCCTCTTCCTCCTCCTCTGCTCCTGTCCTCCTCTTCTTCCTCC TCCCCTTTTCCTCTTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTGCTCT GCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCTCCCCTCCTTTCCTCC TCCTCCCCTTCTCTTCTTCCTCCTCCTCCACTTCTCTCCCTCCTCCTTCT CCTCTCCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCTTCCTCCTCCT CCTGCTCTTCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCTCTTC CTCCTCCTCCCCTTCTCTTCCTCCTCCTCCCCTTCCTCCTCCTCCGCTTC TCTTTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTTCCTCCTCCTCCC CTTCTCTTCCTCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCCCCTCC TCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCC TCCTCCACTTCTCTTTCTCCTCCTCCCCTCCTCTCCTCCTCCTCCTCCCC TCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCT CTCCTCCTCTCCTCCTCCTCTTCCTCCTCCTCCCCTTCTCTTCCTCCTCC TCCCCTTCTCTTCCTCCTCCTCCCCTTCTCTTCCTCCTCCTCCCTTTCCT CCTCCTCCCCTTCTCT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	8	0.1250	715	c.424 others(732): Show c.424+8165_424+8166insTTCCTCCTCCTCTGCTCCTGTCCTCCTC TTCTTCCTCCTCCCCTTTTCCTCTTCCTCCTCCTCCCCTCCTCTCCTCCT CCTCTGCTCTGCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCTCCCCT CCTTTCCTCCTCCTCCCCTTCTCTTCTTCCTCCTCCTCCACTTCTCTCCC TCCTCCTTCTCCTCTCCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCT TCCTCCTCCTCCTGCTCTTCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCC CCTTCTCTTCCTCCTCCTCCCCTTCTCTTCCTCCTCCTCCCCTTCCTCCT CCTCCGCTTCTCTTTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTTCC TCCTCCTCCCCTTCTCTTCCTCCTCCTCCTCCCCTCCTCTCCCTCCTCCT CCTCCCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCCTC CCCTTCCTCCTCCTCCACTTCTCTTTCTCCTCCTCCCCTCCTCTCCTCCT CCTCCTCCCCTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCCCCTCCTC TCCTCCTCCTCTCCTCCTCTCCTCCTCCTCTTCCTCCTCCTCCCCTTCTC TTCCTCCTCCTCCCCTTCTCTTCCTCCTCCTCCCCTTCTCTTCCTCCTCC TCCCTTTCCTCCTCCTCCCCTTCTCTTCCTCCTCCTC	TNFSF13B	ENSG00000102524.12	transcript	ENST00000375887.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr13	TogoVar
TNS1_chr2_217794791_218007995	217805592	C C	CCACCACA others(708): Show CCACCACACACCACACACACCACCACACACACACCACCACACACACACCA CCACACACACCACACACACAACACCACACACCACACACACACCACCACAC ACCACCACACACCACACACACCACCACACACACACCACCACACACACACC ACACACCACACACACATACACCACCACACACCACCACACACACCACACAC ACAACACACACCACACACCACACACACCACCACACACACCACCACACACA CACCACACACCATACACACACTACCACACACCACCACACACCACCACACA CACACCACACACACAGCACCACACACACACCACCACACACAACACACACC ACACACACCACCACACACATACCACCACACACACCACCACACACATACAC ACCACACCACCACCACATACATACACACCACACACCACCACACACATACA CACCACACACCACACACATACACACCACACACACTACCACCGCATACATA CACACCACACACGCCACCACATACATACCACACACACATACACACCACCC ACACACCACCACACACACCACCACCACACACACCACCACACACACACCAC CACATACATACACACCACACACATACCACCACACACACACCATCACGCAC ACCACCACATACACACACCACAGACATACCACCACACACATACCATCACA CACCACTACGCACACA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01081.hp1 HG01884.hp1 others(6): Show HG01070.hp1 HG01081.hp1 HG01884.hp1 HG03130.hp1 HG03195.hp2 HG03710.hp1 NA19030.hp1 NA19043.hp2 NA20300.hp1	a0003 a0006 a0009 others(2): Show a0003 a0006 a0009 a0011 a0045	a0003c0024 a0003c0033 a0003c0115 others(4): Show a0003c0024 a0003c0033 a0003c0115 a0006c0070 a0009c0059 a0011c0017 a0045c0050	a0003c0024t0005 a0003c0033t0038 a0003c0115t0063 others(4): Show a0003c0024t0005 a0003c0033t0038 a0003c0115t0063 a0006c0070t0064 a0009c0059t0005 a0011c0017t0014 a0045c0050t0014	a0003c0024t0005g0096 a0003c0033t0038g0193 a0003c0115t0063g0012 others(5): Show a0003c0024t0005g0096 a0003c0033t0038g0193 a0003c0115t0063g0012 a0006c0070t0064g0118 a0009c0059t0005g0213 a0011c0017t0014g0001 a0011c0017t0014g0121 a0045c0050t0014g0059	9	57	0.1579	715	c.537 others(732): Show c.5376-990_5376-989insTGTGTGCGTAGTGGTGTGTGATGGTATG TGTGTGGTGGTATGTCTGTGGTGTGTGTATGTGGTGGTGTGCGTGATGGT GTGTGTGTGGTGGTATGTGTGTGGTGTGTATGTATGTGGTGGTGTGTGTG TGGTGGTGTGTGTGGTGGTGGTGTGTGTGGTGGTGTGTGGGTGGTGTGTA TGTGTGTGTGGTATGTATGTGGTGGCGTGTGTGGTGTGTATGTATGCGGT GGTAGTGTGTGTGGTGTGTATGTGTGTGGTGTGTGGTGTGTATGTGTGTG GTGGTGTGTGGTGTGTATGTATGTGGTGGTGGTGTGGTGTGTATGTGTGT GGTGGTGTGTGTGGTGGTATGTGTGTGGTGGTGTGTGTGGTGTGTGTTGT GTGTGGTGGTGTGTGTGTGGTGCTGTGTGTGTGGTGTGTGTGTGGTGGTG TGTGGTGGTGTGTGGTAGTGTGTGTATGGTGTGTGGTGTGTGTGTGGTGG TGTGTGTGGTGGTGTGTGTGGTGTGTGGTGTGTGTTGTGTGTGTGGTGTG TGTGGTGGTGTGTGGTGGTGTATGTGTGTGTGGTGTGTGGTGTGTGTGTG GTGGTGTGTGTGTGGTGGTGTGTGTGGTGTGTGGTGGTGTGTGGTGGTGT GTGTGTGGTGTGTGGTGTTGTGTGTGTGGTGTGTGTGGTGGTGTGTGTGT GGTGGTGTGTGTGTGGTGGTGTGTGTGGTGTGTGGTG	TNS1	ENSG00000079308.21	transcript	ENST00000682258.1	protein_coding	32/32			chr2	TogoVar
TP53AIP1_chr11_128930370_128947871	128930893	T T	TGGGGTTA others(708): Show TGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGG GTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGGTTAGGGAGGCCAGGGGTT AGGGAGGCCAGGGTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAG GCCAGGGGGTTAGGGAGACCAAGGGTTAGGGAGGCTGGGGTTAGGGAGGC CGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTTAAGGAGGCCGGG GTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAG GGAGGCTGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGTTAGGGAGGC TGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGG TTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGTAGGG AGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGGTTAGGGAGA CCAAGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAG GGGTTAGGGAGGCCAGGGTTAAGGAGGCCGGGGTTAGGGAGGCCGGGGTT AGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGA GGCCAGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCC GGGGTTAGGGAGGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18993.hp2 NA19009.hp1 NA18993.hp2 NA19009.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0025 a0002c0002t0002g0025	2	77	0.0260	715	c.46 others(726): Show c.4697_*4698insTGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGC CTCCCTAACCCCGGCCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCC CTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAAC CCCGGCCTCCTTAACCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCG GCCTCCCTAACCCCAGCCTCCCTAACCCTTGGTCTCCCTAACCCCCTGGC CTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTACCCTGGCCTCCCT AACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCC CAGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCC TCCCTACCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTA ACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCTTAACCCT GGCCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCC TCCCTAACCCTTGGTCTCCCTAACCCCCTGGCCTCCCTAACCCCAGCCTC CCTAACCCCAGCCTCCCTACCCTGGCCTCCCTAACCCCTGGCCTCCCTAA CCCCCAGCCTCCCTAACCCCAGCCTCCCTAACCCCTGGCCTCCCTAACCC CGGCCTCCCTAACCCCGGCCTCCCTAACCCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4476		chr11	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(708): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTT CCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCC CCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTC CTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTC CCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCT TCCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTACCCCCTTCCTC TCTTCCTCCTTCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCC CCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCTT CCCCCTTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTT CTTCCTCCCTCCCTCCTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCC CCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCC CCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTT ACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCC CTCCTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02896.hp1 HG02818.hp1 HG02896.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0118 a0001c0002t0001g0119	2	9	0.2222	715	c.657 others(730): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCT CCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTC CCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTC CTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTC CCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCT TCCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCC CTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCCCTTCCCCCTTCC CCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTT CCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCCCCTTCCTTCT TCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCTTCCTCCCTCCCTCCTC CCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCT CCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTT CCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCT CTTCCCCCTTCCTCCCTCCTCCTTTCCTTTCTCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TWIST2_chr2_238843085_238915534	238870575	C C	CACCACAC others(708): Show CACCACACACACCCCACACACACCACACACACACATCACATACCACACAC CCGACACACGCCACACACACACCATACACCCCCCACACACCACACCCCAC ACACCATACACACCACACACCCCACACACACCACACACCCCACACACACC ACACCCCATACACACCACACCCCACACACACCACACACCCCACACACACC ACACACCCCACACACACCACACAAACCACACACCCCACACACACCACACA CACCACACACCCCACACACACCACACCCCATACACACCACACCCCACACA CACCACACACCCCACACACACCACACACCCCACACACACCACACCCCACA CACACCACACAAACCACACACCCTACACACCCCACACACACCACACACCA CACACACCCCACACACACCACACCCCACACACACCACACACCCCCCACAC ACACCACACCCCATACACACCACACCCCACACACACCACACCCCATACAC ACCACACACCCCACACACACCACACACCCCACACACACCACACCCCATAC ACACCACACCCCCCACACACCACACACCCCACACACACCACACCCCATAC ACACCACACCCCACACACACCACACACCCCACACACACCACACCCCATAC ACACCACACACCCCACACACCACACACACACATCACATACCACACACACA TCACATACCACACACA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	272	0.0037	715	c.35 others(734): Show c.35+21842_*35+21843insACCACACACACCCCACACACACCACA CACACACATCACATACCACACACCCGACACACGCCACACACACACCATAC ACCCCCCACACACCACACCCCACACACCATACACACCACACACCCCACAC ACACCACACACCCCACACACACCACACCCCATACACACCACACCCCACAC ACACCACACACCCCACACACACCACACACCCCACACACACCACACAAACC ACACACCCCACACACACCACACACACCACACACCCCACACACACCACACC CCATACACACCACACCCCACACACACCACACACCCCACACACACCACACA CCCCACACACACCACACCCCACACACACCACACAAACCACACACCCTACA CACCCCACACACACCACACACCACACACACCCCACACACACCACACCCCA CACACACCACACACCCCCCACACACACCACACCCCATACACACCACACCC CACACACACCACACCCCATACACACCACACACCCCACACACACCACACAC CCCACACACACCACACCCCATACACACCACACCCCCCACACACCACACAC CCCACACACACCACACCCCATACACACCACACCCCACACACACCACACAC CCCACACACACCACACCCCATACACACCACACACCCCACACACCACACAC ACACATCACATACCACACACACATCACATACCACACACA	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
VEZF1_chr17_57966552_57993254	57969305	G G	GCACTTTG others(708): Show GCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGAT CATCCTGGCTAACACGGTGAAACCCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATGGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAACAACAAAGAAAAAAAAAACAAATGAACAAAAAA CCACCCTGATAGTTTTTGTTGTTGTTGTTGTTTTTGAGATGGTGTTTCAC TCTTGTTGCCCGGGCTGTAGTGCAATGGCGCGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCACCACCACGCCCCGCTAATTTTTCTATTTTTAG TAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACC TTGTGATCCTCCCGCCTCAGCCTTCCAAAGTGCTGGGATTACAGGCGTGA GCCACTGCGCCCGACCCGGTAGAGAATCTTAAGTATAAAACTTCTTTCTC TTATCATGTCATGATAAAAACTATAAGGGCGGGGCTGGGCACGGTGGCTC ACGCCTGTAATCCCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0044 a0002c0003t0001g0044	1	119	0.0084	715	c.51 others(726): Show c.5167_*5168insTTGGGATTACAGGCGTGAGCCACCGTGCCCAGCC CCGCCCTTATAGTTTTTATCATGACATGATAAGAGAAAGAAGTTTTATAC TTAAGATTCTCTACCGGGTCGGGCGCAGTGGCTCACGCCTGTAATCCCAG CACTTTGGAAGGCTGAGGCGGGAGGATCACAAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAGAAAAATTA GCGGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CGCGCCATTGCACTACAGCCCGGGCAACAAGAGTGAAACACCATCTCAAA AACAACAACAACAACAAAAACTATCAGGGTGGTTTTTTGTTCATTTGTTT TTTTTTTCTTTGTTGTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCACCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGGTTTCACCGTGTTAGCCAGGATGATCTCGATCTCCTGACCT CGTGATCCACCCGCCTCGGCCTCCCAAAGTG	VEZF1	ENSG00000136451.9	transcript	ENST00000581208.2	protein_coding		2246		chr17	TogoVar
ZFYVE28_chr4_2264597_2423645	2299660	G G	GGGAAAGG others(708): Show GGGAAAGGAAGGGAGGGGAGGGAGGGAGGGAGAAAAGGGAAGTGAGAGGA AGGAGGGAGGGAGGAAAGGGAAGGGAGAGGAGGGAGGGAGTGAGGGAAGG GAAGGGAGGGGAGGGAGGTAGGCAGGGAAGGGAGGGGAGGGAGGGGGGGA GGGAGGGGAGGGAGGGAAGGGGAGGGAGGGGAGGGAGGTAGGCAGGGAAG GGAGGGGAGGGAGGGAGAGGAGGGAGGGGAGGGAGGGGAGGGAGGGGAGG GAAGGGGAGGGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGGAGGG AAGTGAGGGGAGGGAGGGAGGGAAGGCAGGGAGGGGAGGGAGGGAGGGGA GGGAGGGGAGGGAGGGAAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGGG AGGGAGGGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGCGAG GGAGGGAAGGCAGGGAGGGGAGGGGAGGGAGGGAGGGGAGGGAAGGGGAG GGAGGGGAGGGAAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGGAGG GAAGTGAGGGGAGGGAGGGAGGGAAGGCAGGGAGGGGAGGGAGGGAGGGA AGGGAGGGGAGGGAGGGAGGGAAGTGAAGGAAAGGGAAAGAGGGAGGGAG GGAAGGGAAGGGAGGGGAGGGTGGGGAGGGTGGGATGAAGGAAATGGAAA GAAAGGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00741.hp2 HG01074.hp1 others(6): Show HG00735.hp2 HG00741.hp2 HG01074.hp1 HG01167.hp2 HG01169.hp1 HG01255.hp1 HG01261.hp1 HG03017.hp1 HG04228.hp1	a0001 a0002 a0013 a0001 a0002 a0013	a0001c0001 a0001c0005 a0002c0007 others(2): Show a0001c0001 a0001c0005 a0002c0007 a0002c0009 a0013c0034	a0001c0001t0001 a0001c0005t0011 a0002c0007t0002 others(2): Show a0001c0001t0001 a0001c0005t0011 a0002c0007t0002 a0002c0009t0002 a0013c0034t0001	a0001c0001t0001g0069 a0001c0001t0001g0108 a0001c0001t0001g0262 others(6): Show a0001c0001t0001g0069 a0001c0001t0001g0108 a0001c0001t0001g0262 a0001c0005t0011g0231 a0002c0007t0002g0095 a0002c0007t0002g0107 a0002c0007t0002g0237 a0002c0009t0002g0106 a0013c0034t0001g0004	9	80	0.1125	715	c.205 others(734): Show c.2051+4628_2051+4629insTTCTTTCTTTCCTTTCTTTCCATTTC CTTCATCCCACCCTCCCCACCCTCCCCTCCCTTCCCTTCCCTCCCTCCCT CTTTCCCTTTCCTTCACTTCCCTCCCTCCCTCCCCTCCCTTCCCTCCCTC CCTCCCCTCCCTGCCTTCCCTCCCTCCCTCCCCTCACTTCCCTCCCTCCC TCCCCTCACTTCCCTCCCTCCCTCCCCTTCCCTCCCCTCCCTCCCCTTCC CTCCCCTCCCTCCCTCCCCTCCCCTCCCTGCCTTCCCTCCCTCGCTCCCC TCACTTCCCTCCCTCCCTCCCCTCACTTCCCTCCCTCCCTCCCCTCCCTC CCCTTCCCTCCCCTCCCTCCCCTTCCCTCCCTCCCCTCCCTCCCCTCCCT CCCTCCCCTCCCTGCCTTCCCTCCCTCCCTCCCCTCACTTCCCTCCCTCC CTCCCCTCACTTCCCTCCCTCCCTCCCCTCCCTCCCCTTCCCTCCCCTCC CTCCCCTCCCTCCCCTCCCTCCTCTCCCTCCCTCCCCTCCCTTCCCTGCC TACCTCCCTCCCCTCCCTCCCCTTCCCTCCCTCCCCTCCCTCCCCCCCTC CCTCCCCTCCCTTCCCTGCCTACCTCCCTCCCCTCCCTTCCCTTCCCTCA CTCCCTCCCTCCTCTCCCTTCCCTTTCCTCCCTCCCTCCTTCCTCTCACT TCCCTTTTCTCCCTCCCTCCCTCCCCTCCCTTCCTTTCC	ZFYVE28	ENSG00000159733.14	transcript	ENST00000290974.7	protein_coding	8/12			chr4	TogoVar
ZNF627_chr19_11592483_11624161	11613145	C C	CCCTCCCC others(708): Show CCCTCCCCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTCCTCTCCTCCTC CCTCCCCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCCCTTCTT CCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCTCCTCTCCT CCTCCCTCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCC CCCTTCCTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCC CTTCCCCTTCCTCCTCTCCTCCTCCCTCCCCTCCCCCTTCCCTCCTCCCT CCCCTCCCCCTTCCCTCCTCCCTCCCCTCCCCCTCCCCTCCCCTACCCTC CTCCCTACCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCCTCCTCCTCCC CCTCCCCTCCTCCCTCCCCCTCCCCTCCTCCCTCCCCTCCCCTCTCCCCT CCCCTCCCCCTCCCCTCCCCTTCCCCTCTCTTCCTCTCCCCTTCCCCTCC CCTCCCCTCCCCCTCTCCTCCCCCTCCTCTTCCCCTCTCCTCCCCTCCCC CCTCCCCCTTCTCCCCTCTCCCCTCCCCTCCCCTTCCCTTCTCCTCCCCT CCTCCCTCCCCTCCCCATCTTCCCTCCCCTCCCCATCTTCCCTCCCCTCT ACTCCCGTCACCTGTCCCTCCCCTCTCCTCCCCTCACCTGTCCCTCCCCT CTCCCCTTCCCCCTCA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	9	0.1111	715	c.4-1 others(728): Show c.4-1376_4-1375insCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTC CTCTCCTCCTCCCTCCCCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCC TCCCCCTTCTTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTT CCTCCTCTCCTCCTCCCTCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCCC CCCTCCCCTCCCCCTTCCTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTC CTCCCCTTCCCCTTCCCCTTCCTCCTCTCCTCCTCCCTCCCCTCCCCCTT CCCTCCTCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCTCCCCCTCCCCT CCCCTACCCTCCTCCCTACCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCC CTCCTCCTCCCCCTCCCCTCCTCCCTCCCCCTCCCCTCCTCCCTCCCCTC CCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCTTCCCCTCTCTTCCTCTCC CCTTCCCCTCCCCTCCCCTCCCCCTCTCCTCCCCCTCCTCTTCCCCTCTC CTCCCCTCCCCCCTCCCCCTTCTCCCCTCTCCCCTCCCCTCCCCTTCCCT TCTCCTCCCCTCCTCCCTCCCCTCCCCATCTTCCCTCCCCTCCCCATCTT CCCTCCCCTCTACTCCCGTCACCTGTCCCTCCCCTCTCCTCCCCTCACCT GTCCCTCCCCTCTCCCCTTCCCCCTCACCTCCC	ZNF627	ENSG00000198551.10	transcript	ENST00000361113.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF627_chr19_11592483_11624161	11613145	C C	CCCTCCCC others(708): Show CCCTCCCCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTCCTCTCCTCCTC CCTCCCCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCCCTTCTT CCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCTCCTCTCCT CCTCCCTCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCC CCCTTCCTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCC CTTCCCCTTCCTCCTCTCCTCCTCCCTCCCCTCCCCCTTCCCTCCTCCCT CCCCTCCCCCTTCCCTCCTCCCTCCCCTCCCCCTCCCCTCCCCTACCCTC CTCCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCCTCCCCCTCCCC CTCCCCCTCCTCCCTCCCCCTCCCCTCCTCCCTCCCCTCCCCTCTCCCCT CCCCTCCCCCTCCCCTCCCCTTCCCCTCTCTTCCTCTCCCCTTCCCCTCC CCTCCCCTCCCCCTCTCCTCCCCCTCCTCTTCCCCTCTCCTCCCCTCCCC CCTCCCCCTTCTCCCCTCTCCCCTCCCCTCCCCTTCCCTTCTCCTCCCCT CCTCCCTCCCCTCCCCATCTTCCCTCCCCTCCCCATCTTCCCTCCCCTCT ACTCCCGTCACCTGTCCCTCCCCTCTCCTCCCCTCACCTGTCCCTCCCCT CTCCCCTTCCCCCTCA	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	9	0.1111	715	c.4-1 others(728): Show c.4-1376_4-1375insCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTC CTCTCCTCCTCCCTCCCCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCC TCCCCCTTCTTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTT CCTCCTCTCCTCCTCCCTCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCCC CCCTCCCCTCCCCCTTCCTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTC CTCCCCTTCCCCTTCCCCTTCCTCCTCTCCTCCTCCCTCCCCTCCCCCTT CCCTCCTCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCTCCCCCTCCCCT CCCCTACCCTCCTCCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCC TCCCCCTCCCCCTCCCCCTCCTCCCTCCCCCTCCCCTCCTCCCTCCCCTC CCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCTTCCCCTCTCTTCCTCTCC CCTTCCCCTCCCCTCCCCTCCCCCTCTCCTCCCCCTCCTCTTCCCCTCTC CTCCCCTCCCCCCTCCCCCTTCTCCCCTCTCCCCTCCCCTCCCCTTCCCT TCTCCTCCCCTCCTCCCTCCCCTCCCCATCTTCCCTCCCCTCCCCATCTT CCCTCCCCTCTACTCCCGTCACCTGTCCCTCCCCTCTCCTCCCCTCACCT GTCCCTCCCCTCTCCCCTTCCCCCTCACCTCCC	ZNF627	ENSG00000198551.10	transcript	ENST00000361113.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF627_chr19_11592483_11624161	11613145	C C	CCCTCCCC others(708): Show CCCTCCCCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTCCTCTCCTCCTC CCTCCCCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCCCTTCTT CCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCTCCTCTCCT CCTCCCTCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCC CCCTTCCTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCC CTTCCCCTTCCTCCTCTCCTCCTCCCTCCCCTCCCCCTTCCCTCCTCCCT CCCCTCCCCCTTCCCTCCTCCCTCCCCTCCCCCTCCCCTCCCCTACCCTC CTCCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCCTCCTCCTCCCC CTCCCCCTCCTCCCTCCCCCTCCCCTCCTCCCTCCCCTCCCCTCTCCCCT CCCCTCCCCCTCCCCTCCCCTTCCCCTCTCTTCCTCTCCCCTTCCCCTCC CCTCCCCTCCCCCTCTCCTCCCCCTCCTCTTCCCCTCTCCTCCCCTCCCC CCTCCCCCTTCTCCCCTCTCCCCTCCCCTCCCCTTCCCTTCTCCTCCCCT CCTCCCTCCCCTCCCCATCTTCCCTCCCCTCCCCATCTTCCCTCCCCTCT ACTCCCGTCACCTGTCCCTCCCCTCTCCTCCCCTCACCTGTCCCTCCCCT CTCCCCTTCCCCCTCA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp2 HG00558.hp2 others(56): Show HG00438.hp1 HG00544.hp2 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00673.hp1 HG01074.hp2 HG01168.hp2 HG01192.hp1 HG01243.hp1 HG01433.hp2 HG01891.hp1 HG02004.hp1 HG02015.hp2 HG02027.hp2 HG02074.hp1 HG02109.hp2 HG02129.hp1 HG02155.hp2 HG02165.hp2 HG02258.hp1 HG02280.hp2 HG02523.hp2 HG02559.hp1 HG02630.hp1 HG02647.hp2 HG02723.hp1 HG02922.hp2 HG02970.hp1 HG03139.hp1 HG03239.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03540.hp1 HG03710.hp1 HG03834.hp2 HG04199.hp1 NA18522.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18945.hp1 NA18952.hp2 NA18970.hp1 NA18971.hp1 NA18977.hp2 NA18979.hp2 NA18991.hp1 NA18991.hp2 NA19000.hp1 NA19003.hp1 NA19003.hp2 NA19010.hp1 NA19079.hp2 NA19240.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0003 a0001c0001 a0001c0007 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0007t0005 a0002c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0015 others(37): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0082 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0264 a0001c0001t0001g0267 a0001c0001t0001g0270 a0001c0001t0001g0273 a0001c0001t0003g0089 a0001c0001t0005g0147 a0001c0007t0005g0149 a0002c0003t0001g0004	59	67	0.8806	715	c.4-1 others(728): Show c.4-1376_4-1375insCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTC CTCTCCTCCTCCCTCCCCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCC TCCCCCTTCTTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTT CCTCCTCTCCTCCTCCCTCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCCC CCCTCCCCTCCCCCTTCCTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTC CTCCCCTTCCCCTTCCCCTTCCTCCTCTCCTCCTCCCTCCCCTCCCCCTT CCCTCCTCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCTCCCCCTCCCCT CCCCTACCCTCCTCCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCC TCCTCCTCCCCCTCCCCCTCCTCCCTCCCCCTCCCCTCCTCCCTCCCCTC CCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCTTCCCCTCTCTTCCTCTCC CCTTCCCCTCCCCTCCCCTCCCCCTCTCCTCCCCCTCCTCTTCCCCTCTC CTCCCCTCCCCCCTCCCCCTTCTCCCCTCTCCCCTCCCCTCCCCTTCCCT TCTCCTCCCCTCCTCCCTCCCCTCCCCATCTTCCCTCCCCTCCCCATCTT CCCTCCCCTCTACTCCCGTCACCTGTCCCTCCCCTCTCCTCCCCTCACCT GTCCCTCCCCTCTCCCCTTCCCCCTCACCTCCC	ZNF627	ENSG00000198551.10	transcript	ENST00000361113.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF627_chr19_11592483_11624161	11613145	C C	CCCTCCCC others(708): Show CCCTCCCCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTCCTCTCCTCCTC CCTCCCCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCCCTTCTT CCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCTCCTCTCCT CCTCCCTCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCC CCCTTCCTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCC CTTCCCCTTCCTCCTCTCCTCCTCCCTCCCCTCCCCCTTCCCTCCTCCCT CCCCTCCCCCTTCCCTCCTCCCTCCCCTCCCCCTCCCCTCCCCTACCCTC CTCCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCCTCCTCCTCCCC CTCCCCCTCCTCCCTCCCCCTCCCCTCCTCCCTTCCCTCCCCTCTCCCCT CCCCTCCCCCTCCCCTCCCCTTCCCCTCTCTTCCTCTCCCCTTCCCCTCC CCTCCCCTCCCCCTCTCCTCCCCCTCCTCTTCCCCTCTCCTCCCCTCCCC CCTCCCCCTTCTCCCCTCTCCCCTCCCCTCCCCTTCCCTTCTCCTCCCCT CCTCCCTCCCCTCCCCATCTTCCCTCCCCTCCCCATCTTCCCTCCCCTCT ACTCCCGTCACCTGTCCCTCCCCTCTCCTCCCCTCACCTGTCCCTCCCCT CTCCCCTTCCCCCTCA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	9	0.1111	715	c.4-1 others(728): Show c.4-1376_4-1375insCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTC CTCTCCTCCTCCCTCCCCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCC TCCCCCTTCTTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTT CCTCCTCTCCTCCTCCCTCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCCC CCCTCCCCTCCCCCTTCCTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTC CTCCCCTTCCCCTTCCCCTTCCTCCTCTCCTCCTCCCTCCCCTCCCCCTT CCCTCCTCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCTCCCCCTCCCCT CCCCTACCCTCCTCCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCC TCCTCCTCCCCCTCCCCCTCCTCCCTCCCCCTCCCCTCCTCCCTTCCCTC CCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCTTCCCCTCTCTTCCTCTCC CCTTCCCCTCCCCTCCCCTCCCCCTCTCCTCCCCCTCCTCTTCCCCTCTC CTCCCCTCCCCCCTCCCCCTTCTCCCCTCTCCCCTCCCCTCCCCTTCCCT TCTCCTCCCCTCCTCCCTCCCCTCCCCATCTTCCCTCCCCTCCCCATCTT CCCTCCCCTCTACTCCCGTCACCTGTCCCTCCCCTCTCCTCCCCTCACCT GTCCCTCCCCTCTCCCCTTCCCCCTCACCTCCC	ZNF627	ENSG00000198551.10	transcript	ENST00000361113.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF627_chr19_11592483_11624161	11613145	C C	CCCTCCCC others(708): Show CCCTCCCCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTCCTCTCCTCCTC CCTCCCCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCCCTTCTT CCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCTCCTCTCCT CCTCCCTCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCC CCCTTCCTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCC CTTCCCCTTCCTCCTCTCCTCCTCCCTCCCCTCCCCCTTCCCTCCTCCCT CCCCTCCCCCTTCCCTCTTCCCTCCCCTCCCCCTCCCCTCCCCTACCCTC CTCCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCCTCCTCCTCCCC CTCCCCCTCCTCCCTCCCCCTCCCCTCCTCCCTCCCCTCCCCTCTCCCCT CCCCTCCCCCTCCCCTCCCCTTCCCCTCTCTTCCTCTCCCCTTCCCCTCC CCTCCCCTCCCCCTCTCCTCCCCCTCCTCTTCCCCTCTCCTCCCCTCCCC CCTCCCCCTTCTCCCCTCTCCCCTCCCCTCCCCTTCCCTTCTCCTCCCCT CCTCCCTCCCCTCCCCATCTTCCCTCCCCTCCCCATCTTCCCTCCCCTCT ACTCCCGTCACCTGTCCCTCCCCTCTCCTCCCCTCACCTGTCCCTCCCCT CTCCCCTTCCCCCTCA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	9	0.1111	715	c.4-1 others(728): Show c.4-1376_4-1375insCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTC CTCTCCTCCTCCCTCCCCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCC TCCCCCTTCTTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTT CCTCCTCTCCTCCTCCCTCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCCC CCCTCCCCTCCCCCTTCCTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTC CTCCCCTTCCCCTTCCCCTTCCTCCTCTCCTCCTCCCTCCCCTCCCCCTT CCCTCCTCCCTCCCCTCCCCCTTCCCTCTTCCCTCCCCTCCCCCTCCCCT CCCCTACCCTCCTCCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCC TCCTCCTCCCCCTCCCCCTCCTCCCTCCCCCTCCCCTCCTCCCTCCCCTC CCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCTTCCCCTCTCTTCCTCTCC CCTTCCCCTCCCCTCCCCTCCCCCTCTCCTCCCCCTCCTCTTCCCCTCTC CTCCCCTCCCCCCTCCCCCTTCTCCCCTCTCCCCTCCCCTCCCCTTCCCT TCTCCTCCCCTCCTCCCTCCCCTCCCCATCTTCCCTCCCCTCCCCATCTT CCCTCCCCTCTACTCCCGTCACCTGTCCCTCCCCTCTCCTCCCCTCACCT GTCCCTCCCCTCTCCCCTTCCCCCTCACCTCCC	ZNF627	ENSG00000198551.10	transcript	ENST00000361113.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar

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