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
RNF17_chr13_24759169_24884921	24881816	C C	CTATATAG others(610): Show CTATATAGATGCATCTATATATCTATATAGATGCATCTATATATCTATAT ATAGATATATAGATGCATCTATATAGATATATAATCTATATAGATATATA GATACATCTATATAGATATATAGATACATCTATATAGATATATAGATACA TCTATATAGATATATAGATACATCTATATAGATATATAGATACATCTATA TAGATATATAGATACATCTATATAGATATATAGATACATCTATATAGATA TATAGATACATCTATATAGATATATAGATACATCTATATAGATATATAGA TACATCTATATAGATATATATACATCTATATAGATATATAGATACATCTA TATAGATACATCTATATAGATACATCTATATAGATATATAGATACATCTA TATAGATATATAGATACATCTATATATATAGATACATCTATATATATAGA TACATCTATATAGATATATAGATACATCTATATAGATATATAGATACATC TATATAGATATATAGATACATCTATATAGATATATAGATACATCTATATA GATATATAGATACATCTATATAGATATATAGATACATCTATATAGATATA TAGATACATCTATATAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0151 a0003c0006t0001g0151	1	379	0.0026	617	c.20 others(628): Show c.2090_*2091insTATATAGATGCATCTATATATCTATATAGATGCA TCTATATATCTATATATAGATATATAGATGCATCTATATAGATATATAAT CTATATAGATATATAGATACATCTATATAGATATATAGATACATCTATAT AGATATATAGATACATCTATATAGATATATAGATACATCTATATAGATAT ATAGATACATCTATATAGATATATAGATACATCTATATAGATATATAGAT ACATCTATATAGATATATAGATACATCTATATAGATATATAGATACATCT ATATAGATATATAGATACATCTATATAGATATATATACATCTATATAGAT ATATAGATACATCTATATAGATACATCTATATAGATACATCTATATAGAT ATATAGATACATCTATATAGATATATAGATACATCTATATATATAGATAC ATCTATATATATAGATACATCTATATAGATATATAGATACATCTATATAG ATATATAGATACATCTATATAGATATATAGATACATCTATATAGATATAT AGATACATCTATATAGATATATAGATACATCTATATAGATATATAGATAC ATCTATATAGATATATAGATACATCTATATAGA	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		1896		chr13	TogoVar
RPA3_chr7_7631518_7723607	7679116	G G	GTTTATAA others(610): Show GTTTATAAACATATATTTATATATTTAGTTTATAAATATATATTTATATA TTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATATTTA TATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATA TTTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATA TATATTTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATA AATATATATTTATATATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATATTTACATATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAGTTTATAAATACATATTTATAT ATTTAGTTTATAAATACATATTTATATATTTAGTTTATAAATACATATTT ATATATTTAGTTTATAAATACATATTTATATATTTAATTTATAGATAAAT ATATATTTATATATTTAA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0280 a0001c0001t0001g0280	1	278	0.0036	617	c.-75 others(636): Show c.-758+6713_-758+6714insTTAAATATATAAATATATATTTATCT ATAAATTAAATATATAAATATGTATTTATAAACTAAATATATAAATATGT ATTTATAAACTAAATATATAAATATGTATTTATAAACTAAATATATAAAT ATGTATTTATAAACTAAATATATAAATATGTATTTATAAACTAAATATAT AAATATGTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAAT ATGTAAATATGTATTTATAAACTAAATATGTAAATATTTATAAACTAAAT ATGTAAATATGTATTTATAAACTAAATAAATATATATTTATAAACTAAAT ATGTAAATATATATTTATAAACTAAATATATAAATATATATTTATAAACT AAATATATAAATATATATTTATAAACTAAATATATAAATATATATTTATA AACTAAATATATAAATATATATTTATAAACTAAATATATAAATATATATT TATAAACTAAATATATAAATATATATTTATAAACTAAATATATAAATATA TATTTATAAACTAAATATATAAATATATATTTATAAACTAAATATATAAA TATATATTTATAAACTAAATATATAAATATATGTTTATAAA	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPH3AL_chr17_207389_357807	304168	A A	AGGGAGGG others(610): Show AGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGGGCAGTGACCGTG TCTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAA TTATTGAGCAGTGACCGTGTCTCAGGAAAGAGATGGGGAGGGAGGGAGGC TGTACTGAGGTTTTAATAATTATTGGGCAGTGACCGTGTCTCAGGAAAGA GATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGT GACCGTGTCTCAGGAAAGAGGTGGGGAGGGAGGGAGGCTGTACTGAGGTT TTAATAATTATTGAGCAGTGACCGTGTCTCAGGAAAGAGATGGGGAGGGA GGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGTGACCGTGTCTCA GGAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATT GAGCAGTGACCGTGTCTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGTAC TGAGGTTTTAATAATTATTGAGCAGTGACCGTGTCTCAGGAAAGAGGTGG GGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGTGACCG TGTCTCAGGAAAGAGATG	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0063 a0001c0001t0033g0063	1	119	0.0084	617	c.351 others(636): Show c.351+15251_351+15252insCATCTCTTTCCTGAGACACGGTCACT GCTCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCACCTCT TTCCTGAGACACGGTCACTGCTCAATAATTATTAAAACCTCAGTACAGCC TCCCTCCCTCCCCATCTCTTTCCTGAGACACGGTCACTGCTCAATAATTA TTAAAACCTCAGTACAGCCTCCCTCCCTCCCCATCTCTTTCCTGAGACAC GGTCACTGCTCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCC CATCTCTTTCCTGAGACACGGTCACTGCTCAATAATTATTAAAACCTCAG TACAGCCTCCCTCCCTCCCCACCTCTTTCCTGAGACACGGTCACTGCTCA ATAATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCATCTCTTTCCT GAGACACGGTCACTGCCCAATAATTATTAAAACCTCAGTACAGCCTCCCT CCCTCCCCATCTCTTTCCTGAGACACGGTCACTGCTCAATAATTATTAAA ACCTCAGTACAGCCTCCCTCCCTCCCCATCTCTTTCCTGAGACACGGTCA CTGCCCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	304168	A A	AGGGAGGG others(610): Show AGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGGGCAGTGACCGTG TCTCAGGAAAGAGGTGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAA TTATTGAGCAGTGACCGTGTCTCAGGAAAGAGATGGGGAGGGAGGGAGGC TGTACTGAGGTTTTAATAATTATTGAGCAGTGACCGTGTCTCAGGAAAGA GATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGT GACCGTGTCTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAGGTT TTAATAATTATTGGGCAGTGACCGTGTCTCAGGAAAGAGATGGGGAGGGA GGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGTGACCGTGTCTCA GGAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATT GAGCAGTGACCGTGTCTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGTAC TGAGGTTTTAATAATTATTGAGCAGTGACCGTGTCTCAGGAAAGAGGTGG GGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGTGACCG TGTCTCAGGAAAGAGATG	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	119	0.0084	617	c.351 others(636): Show c.351+15251_351+15252insCATCTCTTTCCTGAGACACGGTCACT GCTCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCACCTCT TTCCTGAGACACGGTCACTGCTCAATAATTATTAAAACCTCAGTACAGCC TCCCTCCCTCCCCATCTCTTTCCTGAGACACGGTCACTGCTCAATAATTA TTAAAACCTCAGTACAGCCTCCCTCCCTCCCCATCTCTTTCCTGAGACAC GGTCACTGCTCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCC CATCTCTTTCCTGAGACACGGTCACTGCCCAATAATTATTAAAACCTCAG TACAGCCTCCCTCCCTCCCCATCTCTTTCCTGAGACACGGTCACTGCTCA ATAATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCATCTCTTTCCT GAGACACGGTCACTGCTCAATAATTATTAAAACCTCAGTACAGCCTCCCT CCCTCCCCATCTCTTTCCTGAGACACGGTCACTGCTCAATAATTATTAAA ACCTCAGTACAGCCTCCCTCCCTCCCCACCTCTTTCCTGAGACACGGTCA CTGCCCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
SAMD11_chr1_918923_949574	934329	G G	GCGTTACA others(610): Show GCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAG GCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCG GGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCTGCTCCGTTACAGG TGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGT TACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGGGGGCT GCTCCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGG GAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGG GCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTAC AGGTGGGCGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTC CGTTACAGGTGGGCGGGGGAGGCTGCTCCGTTACAGGTGGGCGGGGGAGG CGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGG GGGGGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGT GGGCGGGGGGGGCTGCTC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	403	0.0025	617	c.843 others(634): Show c.843-1424_843-1423insGGGCGGCTGCGTTACAGGTGGGCGGGGG AGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGG CGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCTGCTCCGTTACA GGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGC GTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGGGGG CTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGG GGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGT GGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTT ACAGGTGGGCGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGC TCCGTTACAGGTGGGCGGGGGAGGCTGCTCCGTTACAGGTGGGCGGGGGA GGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGC GGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAG GTGGGCGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934461	A A	AGGCTGCT others(610): Show AGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGG CGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACA GGTGGGCGGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTC CGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGG CGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGG GGGAGGCGGCTCCGTTACAGGTGGGCGGGGGGGGCTGCTCCGTTACAGGT GGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGAGGCTGCTCCGTT ACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGC TCCGTTACAGGTGGGCGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGA GGCGGCTCCGTTACAGGTGGGCGGGGGGGGCTGCTCCGTTACAGGTGGGC GGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAG GTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCG TTACAGGTGGGCGGGGGG	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	380	0.0026	617	c.843 others(634): Show c.843-1308_843-1307insTGCTCCGTTACAGGTGGGCGGGGGAGGC GGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGG GGAGGCGGCTCCGTTACAGGTGGGCGGGGGGGGGCTGCTCCGTTACAGGT GGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTT ACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGC TGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGG GGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGC GGGGGAGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAG GTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGGGGCTGCTCCG TTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGGGGCT GCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGG GAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGG GCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGC	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCUBE1_chr22_43192280_43348372	43339755	C C	CCCCCACT others(610): Show CCCCCACTCTCCTCATTCTATCCCCCCACAAGCATAGCTCCAACCCTCCC CCCACTCTCCTCATTCTATCCCCCCACAAGCATTGCTCCAACCCTCCCCC ACTCTCCTCATTCTACCCCCCACAAGCATAGCTCCAACCCTCCCCCCACT CTCCTCATTCTATCCCCCCACAAGCATTGCTTCAACCCTCCCCCACGCTC CTCATTCTATCCCCCCACAAGCATCGCTCCAACCCTCCCCTACTCTCCTC ACTCTATCCCCCCACAAGCATCACTCCAGCCCTCCCCTACTCTCCTCACT ATCCCCCCACAAGCATCACTCCAACCCTCCCCCACTCTCCTCATTCTATC CCCCCACAAGCATCACTCCAACCCTCCCCCCACTCTCCTCATTCTATCCC CCCACAAGCATCACTCCAACCCTCCCCCCACTCTCCTCATTCTATCCCCC CACAAGCATCACTCCAACCCTCCCCTACTCTCCTCATTCTACCCCCCCCC AAGCATAGCTCCAACCCTCCCCCAACTCTCCTCATTCTACCCCCCCCACA AGCATAGCTCCAACCCTCCCCCCACTCTCCTCATTCTACCCCCCCCCCAC AAGCACTGCTCCAACCCT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0027 a0002c0002t0002g0027	1	192	0.0052	617	c.89- others(630): Show c.89-521_89-520insAGGGTTGGAGCAGTGCTTGTGGGGGGGGGGTA GAATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGTGGGGGGGGTAG AATGAGGAGAGTTGGGGGAGGGTTGGAGCTATGCTTGGGGGGGGGTAGAA TGAGGAGAGTAGGGGAGGGTTGGAGTGATGCTTGTGGGGGGATAGAATGA GGAGAGTGGGGGGAGGGTTGGAGTGATGCTTGTGGGGGGATAGAATGAGG AGAGTGGGGGGAGGGTTGGAGTGATGCTTGTGGGGGGATAGAATGAGGAG AGTGGGGGAGGGTTGGAGTGATGCTTGTGGGGGGATAGTGAGGAGAGTAG GGGAGGGCTGGAGTGATGCTTGTGGGGGGATAGAGTGAGGAGAGTAGGGG AGGGTTGGAGCGATGCTTGTGGGGGGATAGAATGAGGAGCGTGGGGGAGG GTTGAAGCAATGCTTGTGGGGGGATAGAATGAGGAGAGTGGGGGGAGGGT TGGAGCTATGCTTGTGGGGGGTAGAATGAGGAGAGTGGGGGAGGGTTGGA GCAATGCTTGTGGGGGGATAGAATGAGGAGAGTGGGGGGAGGGTTGGAGC TATGCTTGTGGGGGGATAGAATGAGGAGAGTGGGG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	1/21			chr22	TogoVar
SLC25A41_chr19_6421037_6438763	6429376	G G	GGAAGGGA others(610): Show GGAAGGGAGGTGGAGGGAGAAAAGAGGAGGAGGAGGAAGGAAAGAAGGAG AAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGGAG AAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGAGA AAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGAGG GACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGTGA AGGGGAGGAGGGAGAAGTGGAGAAAAGAAGAGAAAGGAGGAGGGAAGGAG GAGGAGGGAGAAAGGAAGGGAGGAGGAGGGGAGAAAGGAGGGGAGGAGGA GGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAGGG GAGGAGGAGAGAGGAGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAGGA GAGAAGAGGAGGGGAGGAGGAGGAGAGGAAGGAGGGGAGGAGGAGAGAAG AGGGGAGGAGGAGAGGAAGGAAGAGAGGAGGAGGAGGAGAGGAAGGAGGA GGGGAGGAGGAGGCAGAAAGGAGGAAGGAGGGGGAGGAGGAGAGGAAAGA GTCCGGGAGGAGGAGGGA	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0002 a0006c0014t0002	a0006c0014t0002g0092 a0006c0014t0002g0092	1	2	0.5000	617	c.624 others(632): Show c.624+347_624+348insTCCCTCCTCCTCCCGGACTCTTTCCTCTCC TCCTCCCCCTCCTTCCTCCTTTCTGCCTCCTCCTCCCCTCCTCCTTCCTC TCCTCCTCCTCCTCTCTTCCTTCCTCTCCTCCTCCCCTCTTCTCTCCTCC TCCCCTCCTTCCTCTCCTCCTCCTCCCCTCCTCTTCTCTCCTCCTCCCCT CCTCCTCTCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCTTCTCTC CTCCTCCCCTCTTCTCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCCT CCTTTCTCCCCTCCTCCTCCCTTCCTTTCTCCCTCCTCCTCCTTCCCTCC TCCTTTCTCTTCTTTTCTCCACTTCTCCCTCCTCCCCTTCACTTCCTCCT CCTCCCCTTTCTCCCTCCTCCTCTTCTCCTCTTTTGTCCCTCCTCTCCCT CCTCCCTTTCACCTTTTCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCCCC TCCCCTCATCTTTTCTCCCTCCTCCTCCTCTCCTCTTTCTCCTCCTCTAT TCTCCCTCCTCTCCCTTCTCCCCCTTCACTTCTTCCTTCTCCTTCTTTCC TTCCTCCTCCTCCTCTTTTCTCCCTCCACCTCCCTTC	SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding	4/6			chr19	TogoVar
SLC25A41_chr19_6421037_6438763	6429376	G G	GGAAGGGA others(610): Show GGAAGGGAGGTGGAGGGAGAAAAGAGGAGGAGGAGGAAGGAAAGAAGGAG AAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGGAG AAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGAGA AAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGAGG GACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGTGA AGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAGGA GGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAGGA GGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAGGG GAGGAGGAGAGAGGAGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAGGA GAGAAGAGGAGGGGAGGAGGAGGAGAGGAAGGAGGGGAGGAGGAGAGAAG AGGGGAGGAGGAGAGGAAGGAAGAGAGGAGGAGGAGGAGAGGAAGGAGGA GGGGAGGAGGAGGCAGAAAGGAGGAAGGAGGGGGAGGAGGAGAGGAAAGA GTCCGGGAGGAGGAGGGA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03516.hp1 NA18986.hp2 others(1): Show HG02572.hp1 HG03516.hp1 NA18986.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0080 a0001c0001t0002g0119 a0001c0001t0002g0120 others(1): Show a0001c0001t0002g0080 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0124	4	5	0.8000	617	c.624 others(632): Show c.624+347_624+348insTCCCTCCTCCTCCCGGACTCTTTCCTCTCC TCCTCCCCCTCCTTCCTCCTTTCTGCCTCCTCCTCCCCTCCTCCTTCCTC TCCTCCTCCTCCTCTCTTCCTTCCTCTCCTCCTCCCCTCTTCTCTCCTCC TCCCCTCCTTCCTCTCCTCCTCCTCCCCTCCTCTTCTCTCCTCCTCCCCT CCTCCTCTCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCTTCTCTC CTCCTCCCCTCTTCTCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCCT CCTTTCTCCCTCCTCCTCCCTTCCTTTCTCCCTCCTCCTCCTTCCCTCCT CCTTTCTCTTCTTTTCTCCCACTTCTCCCTCCTCCCCTTCACTTCCTCCT CCTCCCCTTTCTCCCTCCTCCTCTTCTCCTCTTTTGTCCCTCCTCTCCCT CCTCCCTTTCACCTTTTCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCCCC TCCCCTCATCTTTTCTCCCTCCTCCTCCTCTCCTCTTTCTCCTCCTCTAT TCTCCCTCCTCTCCCTTCTCCCCCTTCACTTCTTCCTTCTCCTTCTTTCC TTCCTCCTCCTCCTCTTTTCTCCCTCCACCTCCCTTC	SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding	4/6			chr19	TogoVar
SLIT3_chr5_168656740_169306139	168726538	G G	GAGGGAGG others(610): Show GAGGGAGGCAGGGAGGGAGCGAGGGAGAGGGAGGCAAGGAGGGAGGGAGG GAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGCAAGGAGGGAGGGA GAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGGGAGG GAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGGGA GGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGAGGGAGG GAGGGTGGGAGGGAGGGAGAGGGAGGCAGGGAGACAGGGAGGCAGGGAGG GAGGGAGAGGGAGGCAGGGAGACAGGGAGGCAGGGAGGGAGGGAGAGGGA GGCAGGGAGGGAGGGAGAGGGAGGCAGGGAGAGGGGGAGGCAGGGAGGGA GGGAGAGGGAGGCAGGGAGGGAGGGAGGGAGAGGGAGGCAGGGAGGGAGG GAGGGGGAGGGAGGCAGGGAGAGGGAGGCAAGGAGGGAGGGAGGGAGAGG GAGGGAGGGAGGGAGAGGGAGGGAGAGGGAGGCAGGGAGAGAGGGAGGGA GAGGGAGGCAGGGAGGGAGAGGGACGCAGGGGGAGAGGTAGGGAGGGAGA GAGGGAGGGAGGGAGAGA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02622.hp2 HG02895.hp2 others(3): Show HG02615.hp2 HG02622.hp2 HG02895.hp2 HG02897.hp1 HG03195.hp2 HG03516.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0004 a0002c0002 a0009c0024 a0001c0004 a0002c0002 a0009c0024	a0001c0004t0013 a0001c0004t0018 a0002c0002t0018 others(2): Show a0001c0004t0013 a0001c0004t0018 a0002c0002t0018 a0002c0002t0023 a0009c0024t0028	a0001c0004t0013g0001 a0001c0004t0013g0002 a0001c0004t0018g0102 others(3): Show a0001c0004t0013g0001 a0001c0004t0013g0002 a0001c0004t0018g0102 a0002c0002t0018g0107 a0002c0002t0023g0086 a0009c0024t0028g0076	6	7	0.8571	617	c.227 others(636): Show c.2271-2055_2271-2054insTCTCTCCCTCCCTCCCTCTCTCCCTC CCTACCTCTCCCCCTGCGTCCCTCTCCCTCCCTGCCTCCCTCTCCCTCCC TCTCTCCCTGCCTCCCTCTCCCTCCCTCTCCCTCCCTCCCTCCCTCTCCC TCCCTCCCTCCTTGCCTCCCTCTCCCTGCCTCCCTCCCCCTCCCTCCCTC CCTGCCTCCCTCTCCCTCCCTCCCTCCCTGCCTCCCTCTCCCTCCCTCCC TGCCTCCCCCTCTCCCTGCCTCCCTCTCCCTCCCTCCCTGCCTCCCTCTC CCTCCCTCCCTGCCTCCCTGTCTCCCTGCCTCCCTCTCCCTCCCTCCCTG CCTCCCTGTCTCCCTGCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTC CCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCC ACCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTC CCACCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCC TCCTTGCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTC CCTCCTTGCCTCCCTCTCCCTCGCTCCCTCCCTGCCTCCCT	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	20/35			chr5	TogoVar
SULF2_chr20_47652406_47790481	47670707	G G	GGGGGTGG others(610): Show GGGGGTGGGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTG GGAGCGGGGTGGGAGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTG GGGGTGGGAGCGGGGTGGGAGAACGGGGTGAGAGCGGGGTGGGACAGCGG GGTGGGAGAACGGGGTGGGAGAGCGGGGTGGGAGAGCAGGGTGGGAGGGG TGGGAGAACGGGGTGGGGGTGGGAGGGGGTGGGAGAACGGGGTGGGAGCG AGGTGGGAGAACGGGGTGAGAGCGGGGTGGGAGAGCGGGGTGGGGGTGAG AGCGGGGTGGGAGAACGGGGTGAGAGCGGGGTGGGGGAACGGGGAGAGAG CGGGGTGGGGGAACGGGGAGGGAGCGGGGTGGGGGAACGGGGTGGGAGCG GGGGTGGGGGAACGGGGAGAGAGCGGGGTGGGGGAACGGGGGTGGGAGCG GGGTGGGGGAACGGGGAGAGAGCGGGGTGGGGGAACGGGGGTGGGAGCGG GGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGG TGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTG GGAGCGGGGTGGGAGAAC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0179 a0001c0002t0001g0179	1	4	0.2500	617	c.157 others(636): Show c.1576+1490_1576+1491insGTTCTCCCACCCCGCTCCCACCCCGC TCCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTC CCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCC ACCCCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCCCA CCCCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCCGCTCCCA CCCCGTTCCCCCACCCCGCTCCCTCCCCGTTCCCCCACCCCGCTCTCTCC CCGTTCCCCCACCCCGCTCTCACCCCGTTCTCCCACCCCGCTCTCACCCC CACCCCGCTCTCCCACCCCGCTCTCACCCCGTTCTCCCACCTCGCTCCCA CCCCGTTCTCCCACCCCCTCCCACCCCCACCCCGTTCTCCCACCCCTCCC ACCCTGCTCTCCCACCCCGCTCTCCCACCCCGTTCTCCCACCCCGCTGTC CCACCCCGCTCTCACCCCGTTCTCCCACCCCGCTCCCACCCCCACCCCGT TCTCCCACCCCGTTCTCCCACCCCGCTCTCCCACCCCGCTCCCACCCCCA CCCCGTTCTCCCACCCCGTTCTCCCACCCCGCTCCCACCCC	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	11/20			chr20	TogoVar
TBC1D22A_chr22_46757650_47180693	46859378	C C	CATAGAGG others(610): Show CATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAATCCTTTT TTGATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAATCCTT TTCCATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAATCCT TTTTTGATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAATC CTTTTCCATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGAAT CCTTTTCCATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGAA TCCTTTTCGATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCTGGGACCAGA ATCCTTTGTTGATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCA GAATCCTTTTCCATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACC AGAATCCTTTTTTGATAGAGGTCCGCACAGTGCCGTGCCCCTTCCCGGGA CCAGAATCCTTTTCCATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGG ACCAGAATCCTTTTCCATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGG GACCAGAATCCTTTTTTG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01261.hp1 HG00741.hp2 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0102 a0001c0001t0004g0020 a0001c0001t0003g0102 a0001c0001t0004g0020	2	77	0.0260	617	c.638 others(636): Show c.638-19153_638-19152insCGTGCCCCTTCCCGGGACCAGAATCC TTTTTTGATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAAT CCTTTTCCATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGAA TCCTTTTCCATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGA ATCCTTTTCGATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCTGGGACCAG AATCCTTTGTTGATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACC AGAATCCTTTTCCATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGAC CAGAATCCTTTTTTGATAGAGGTCCGCACAGTGCCGTGCCCCTTCCCGGG ACCAGAATCCTTTTCCATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGG GACCAGAATCCTTTTCCATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCG GGACCAGAATCCTTTTTTGATAGAGGTCCGCGCAGTGCCGTGCCCCTTCC CGGGACCAGAATCCTTTTTTGATAGAGGTCCGCGCAGTGCCGTGCCCCTT CCCGGGACCAGAATCCTTTTCCATAGAGGTCCGCGCAGTGC	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBCD_chr17_82747065_82950914	82764895	G G	GTGTGCTC others(610): Show GTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTC ATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTG CTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTT ACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTTACAAGCTT GCGGGTGTCTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCT GCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAG TCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTGCTTT TCTTACAAGCTTGCGGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTTACA AGCTTGCGGGTGTCTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGG TGTCTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCT CATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCT GCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTGCTTTTCT TACAAGCTTGCGGGTGTC	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0241 a0001c0002t0001g0241	1	225	0.0044	617	c.333 others(632): Show c.333+835_333+836insTGCTCATAGTCTGCTTTTCTTACAAGCTTG CGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTC TGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCT CATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCT GCTTTTCTTACAAGCTTGCGGGTGTCTGTGCTCATAGTCTGCTTTTCTTA CAAGCTTGCGGGTGTCTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGG TGTCTGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTG TGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGGTGTCTGTGTGCTCAT AGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGCTCATAGTCTGCTTT TCTTACAAGCTTGCGGGTGTCTGCTCATAGTCTGCTTTTCTTACAAGCTT GCGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGT CTGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGC TCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTG	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	3/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TERT_chr5_1248167_1300068	1273332	A A	ACATCAGA others(610): Show ACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCAC GACCGCCATCCACAGTCACCACACATCAGACCCCACAACCGCCATCCACA GTCACATCAGACCCCCACAACCGCCATCCACAGTCACCACATCAGACCCC ACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCA CAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACATCA GACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCA TCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACAC ATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGA CCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCA CCACATCAGACCCCACGACCGCCATCCACAGTCACATCAGACCCCACGAC CGCCATCCACAGTCACCACATCAGACCCTACGACCGCCATCCACAGTCAC CACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACG ACCGCCATCCACAGTCAC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	357	0.0028	617	c.228 others(636): Show c.2287-1053_2287-1052insGTGACTGTGGATGGCGGTCGTGGGGT CTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGT GGATGGCGGTCGTAGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGG GTCTGATGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTG GATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGG TCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTG ACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTC GTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGG TGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGC GGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTG ATGTGGTGACTGTGGATGGCGGTTGTGGGGGTCTGATGTGACTGTGGATG GCGGTTGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTC TGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
THEG_chr19_356747_381026	376741	T T	TCTGTGCC others(610): Show TCTGTGCCCCCACCCAGCCTCTCCCCCCCCGTGCCTCCACCCAGCCTCTC CCCCTGTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCT CCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCT CTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCC TCTCCCCCTGTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGC CTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCA GCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCC AGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCGTGTGCCCCACC CAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCAC CCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCA CCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCGTGTGCCCC ACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCC CCACCCAGCCTCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0050 a0001c0001t0002g0050	1	315	0.0032	617	c.-77 others(626): Show c.-772_-771insGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAG GCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACACGGGGGAGAG GCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAG AGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGA GAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACACGGGGGA GAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGG GAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACAGAGGG GGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGG GGGAGAGGCTGGGTGGGGCACACAGGGGGAGAGGCTGGGTGGGGCACAGG GGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAG AGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCAC AGGGGGGAGAGGCTGGGTGGGGCACACAGGGGGAGAGGCTGGGTGGAGGC ACGGGGGGGGAGAGGCTGGGTGGGGGCACAG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		716		chr19	TogoVar
TMCO3_chr13_113486021_113555229	113543378	C C	CACCTCCT others(610): Show CACCTCCTCCCCGTGCCCCCCGCCCTACCTCTGTCCGGACCCCACCTCCT CCCCCTGCCCCCTGCCCTCCCTGTCCGTGACCACCTCCTCCCCCTGCGCC CCTACCCTCCCTGTGTGTTACCCCCACCTCCTCTCCCTGCCCCCACTCTG TCCGTGACCCCCACCTCCTCCCCTTGCCCCCCCGCCCTCCCTCTGTCCGT GACCCCCACCTCCTCTCCCTGCCCCCACTCTGTCCGTGACCCCCACCTCC TCCCCCTGACCCCCTGCCCTCCCTCTGTCCGTGACCCCCTCCTCCCCCTG TGCCCCACCCTCCCTGTGTGTGACCCCCACCTCCTCCCCCTGCCCCCGCC CTCCCTCTGTGGGTGACTCCACTTCCTCCCCCTGCCCCCCGCCCTCCCTG TCCGTGACCACCTCCTCCTCCCCTTGCCCCCCCGCCCTCCCTCTGTCCGT GACCCCCTCCTCCCCCTGTGCCCCACCCTCTCTGTCTGTGACCCCCACCT CCTCCCCCTGCCCCCCGCCCTCCCTCTGTGGGTGACTCCACTTCCTCCCC CTGCCCCCCGCCCTCCCTGTCCGTGACCACCTCCTCCCCCTGCCCCCGCC CTCCCTCTGTGGGTGACT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0050 a0003c0002t0002g0050	1	319	0.0031	617	c.169 others(636): Show c.1690+3871_1690+3872insACCTCCTCCCCGTGCCCCCCGCCCTA CCTCTGTCCGGACCCCACCTCCTCCCCCTGCCCCCTGCCCTCCCTGTCCG TGACCACCTCCTCCCCCTGCGCCCCTACCCTCCCTGTGTGTTACCCCCAC CTCCTCTCCCTGCCCCCACTCTGTCCGTGACCCCCACCTCCTCCCCTTGC CCCCCCGCCCTCCCTCTGTCCGTGACCCCCACCTCCTCTCCCTGCCCCCA CTCTGTCCGTGACCCCCACCTCCTCCCCCTGACCCCCTGCCCTCCCTCTG TCCGTGACCCCCTCCTCCCCCTGTGCCCCACCCTCCCTGTGTGTGACCCC CACCTCCTCCCCCTGCCCCCGCCCTCCCTCTGTGGGTGACTCCACTTCCT CCCCCTGCCCCCCGCCCTCCCTGTCCGTGACCACCTCCTCCTCCCCTTGC CCCCCCGCCCTCCCTCTGTCCGTGACCCCCTCCTCCCCCTGTGCCCCACC CTCTCTGTCTGTGACCCCCACCTCCTCCCCCTGCCCCCCGCCCTCCCTCT GTGGGTGACTCCACTTCCTCCCCCTGCCCCCCGCCCTCCCTGTCCGTGAC CACCTCCTCCCCCTGCCCCCGCCCTCCCTCTGTGGGTGACT	TMCO3	ENSG00000150403.18	transcript	ENST00000434316.7	protein_coding	10/12			chr13	TogoVar
TMPRSS9_chr19_2355265_2431261	2377639	C C	CTCTCCCC others(610): Show CTCTCCCCTCCCCCTCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTC TCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCTTCCCCCTCTCCTAC CCCTCCCCCTTACCCTTCCCCCTTCCCCCCCTCTGCCCTCCCCTATCCCC TCCTCTGCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTATCCCCTCTC CCCTCTCCCCCTCCCCTCTCCCCTCTCCCCCTCCCCTCTCCCCTCTCCCC TCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCCTCCCC TCCCCTCCCCTTCCCCTCCCCCCTCCCTTCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCCCTCCCCCTCCCCCCCTCCCCTCCCCCCCTCCCCTC CCCCCTCTCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCTCTCCTCCCTTTCCT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0014 a0002c0002t0001g0014	1	10	0.1000	617	c.-25 others(636): Show c.-25-12110_-25-12109insCTCTCCCCTCCCCTCCCCTCCCCTCT CCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCTTCC CCCTCTCCTACCCCTCCCCCTTACCCTTCCCCCTTCCCCCCCTCTGCCCT CCCCTATCCCCTCCTCTGCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCC TATCCCCTCTCCCCTCTCCCCCTCCCCTCTCCCCTCTCCCCCTCCCCTCT CCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCT CTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCT CCCCCCTCCCCTCCCCTCCCCTTCCCCTCCCCCCTCCCTTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCCCCTCCCCTCCC CCCCTCCCCTCCCCCCTCTCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCC CCTCTCCCCTCCCCTCTCCTCCCTTTCCTTCTCCCCTCCCC	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(610): Show CTCCTCCTCCTCTTCCTCCTCCTCTGCTCCTGTCCTCCTCTTCTTCCTCC TCCCCTTTTCCTCTTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTGCTCT GCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCTCCCCTCCTTTCCTCC TCCTCCCCTTCTCTTCTTCCTCCTCCTCCACTTCTCTCCTCCTCCTTCTC CTCTCCCTCCTCCTCCCCTCCTCTCCCCTCCTCCTCCTCTTCCTCCTCCT CCTGCTCTTCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCTCTCC TCCTCCTCCCCTTCTCTTCCTCCTCCTCCCTTCCTCCTCCTCCGCTTCTC TTTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTTCCTCCTCCTCCCCT TCTCTTCCTCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCCCCTCCTC TCCTCCTCCCCTTCCTCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCC TCCATCTTCTCTTTCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCCCTCCT CCTCCTCTCCCCTCCTCTCCTCCTCCTCTCCTCCTCTCCTCCTCCTCTTC CTCCTCCTCCCCTTCTCT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0024 a0001c0001t0006g0024	1	8	0.1250	617	c.424 others(634): Show c.424+8165_424+8166insTTCCTCCTCCTCTGCTCCTGTCCTCCTC TTCTTCCTCCTCCCCTTTTCCTCTTCCTCCTCCTCCCCTCCTCTCCTCCT CCTCTGCTCTGCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCTCCCCT CCTTTCCTCCTCCTCCCCTTCTCTTCTTCCTCCTCCTCCACTTCTCTCCT CCTCCTTCTCCTCTCCCTCCTCCTCCCCTCCTCTCCCCTCCTCCTCCTCT TCCTCCTCCTCCTGCTCTTCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCC CCTTCTCTCCTCCTCCTCCCCTTCTCTTCCTCCTCCTCCCTTCCTCCTCC TCCGCTTCTCTTTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTTCCTC CTCCTCCCCTTCTCTTCCTCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCC TCCCCTCCTCTCCTCCTCCCCTTCCTCTCCTCCCCTTCCTCCTCCTCCCC TTCCTCCTCCTCCATCTTCTCTTTCTCCTCCTCCCCTCCTCTCCCTCCTC CTCCCCTCCTCCTCCTCTCCCCTCCTCTCCTCCTCCTCTCCTCCTCTCCT CCTCCTCTTCCTCCTCCTCCCCTTCTCTTCCTCCTCCTC	TNFSF13B	ENSG00000102524.12	transcript	ENST00000375887.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr13	TogoVar
TOX_chr8_58800412_59124147	59092275	A A	ATATTATA others(610): Show ATATTATATATACATTATATATATATATATTATATATACATTATATATAT ATATTATATATACATTATATATATATATTATATATACATTATATATATAT ATTATATATACATTATATATATATATATTATATATACATTATATATATAT ATATTATATATACATTATATATAATATATATATACATTATATATATATAT TATATATACATTATATATATATATTATATATACATTATATATATATATTA TATATACATTATATATATATATTATATATACATTATATATATATATATTA TATATACATTATATATATATATTATATATACATTATATATATATATTATA TATACATTATATATATATATTATATATACATTATATATATATTATATATA CATTATATATATATATTATATATACATTATATATATATTATATATACATT ATATATATTATATATTATATATACATTATATATATTATATATTATATATA CATTATATATTATATATTATATATACATTATATATATCATATATTATATA TACATTATATATATTATATATTATATATACATTATATATATTATATATTA TATATACATTATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	149	0.0067	617	c.102 others(636): Show c.102+26610_102+26611insATATATATAATGTATATATAATATAT AATATATATAATGTATATATAATATATAATATATATAATGTATATATAAT ATATGATATATATAATGTATATATAATATATAATATATAATGTATATATA ATATATAATATATATAATGTATATATAATATATAATATATATAATGTATA TATAATATATATATAATGTATATATAATATATATATATAATGTATATATA ATATATATATAATGTATATATAATATATATATATAATGTATATATAATAT ATATATATAATGTATATATAATATATATATATAATGTATATATAATATAT ATATATATAATGTATATATAATATATATATATAATGTATATATAATATAT ATATATAATGTATATATAATATATATATATAATGTATATATAATATATAT ATATAATGTATATATATATTATATATAATGTATATATAATATATATATAT ATAATGTATATATAATATATATATATATAATGTATATATAATATATATAT ATAATGTATATATAATATATATATATAATGTATATATAATATATATATAT AATGTATATATAATATATATATATATAATGTATATATAATA	TOX	ENSG00000198846.6	transcript	ENST00000361421.2	protein_coding	1/8			chr8	TogoVar
TP53AIP1_chr11_128930370_128947871	128930556	C C	CTGGGGTT others(610): Show CTGGGGTTAGGAAGGCCGGGGTTAGGGAGGCCAGGGGTCAGGGAGGCTGG GGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGCCCGGGGTTA GGGAGGCTGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGTTAGGGAGG CCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGG GTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAG GGAGGCCAGGGGTTAGGGAGGCCAGGGTTAGGGAGGCCGGGGTTAGGGAG GCCAGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGG GGTTAAGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGCCCGGGGTTA GGGAGGCTGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGTTAGGGAGG CTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGG GTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGGTT AGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGA GGCCAGGGGTTAGGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	434	0.0023	617	c.50 others(628): Show c.5034_*5035insCCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCT CCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCTGGCCTCCCT AACCCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACC CCGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGC CTCCCTACCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGGCTCCCT AACCCCGGCCTCCCTAACCCCGGCCTCCTTAACCCCGGCCTCCCTAACCC CGGCCTCCCTAACCCCGGCCTCCCTAACCCTGGCCTCCCTAACCCCGGCC TCCCTAACCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCCC TAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACC CCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGC CTCCCTACCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGGCTCCCT AACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTGACCC CTGGCCTCCCTAACCCCGGCCTTCCTAACCCCA	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4813		chr11	TogoVar
TP53AIP1_chr11_128930370_128947871	128930741	C C	CGGGGTTA others(610): Show CGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGCCCGGGG TTAGGGAGGCTGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGTTAGGG AGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCC GGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGG TTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGTTAGG GAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAAGGAGGC CGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCGGG GTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGGTT AGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGA GGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCG GGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTT AGGGAGCCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGTAGGGAG GCTGGGGTTAGGGAGGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	339	0.0029	617	c.48 others(628): Show c.4849_*4850insAGCCTCCCTAACCCCAGCCTCCCTACCCTGGCCT CCCTAACCCCAGCCTCCCTAACCCCGGGCTCCCTAACCCCGGCCTCCCTA ACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCC AGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCT CCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCTGGCCTCCCT AACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACC CCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCTTAACCCCGG CCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCTGGCCTCC CTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCTGGCCTCCCTAA CCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCG GCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTC CCTACCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGGCTCCCTAAC CCCGGCCTCCCTAACCCCAGCCTCCCTAACCCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4628		chr11	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(610): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCCC TCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTC CCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCG TCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCC CTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCT CCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTC CCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTC CTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTC CCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCT TATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCC TTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCT CCCTCCTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0137 a0001c0002t0002g0137	1	8	0.1250	617	c.657 others(632): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCC CTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCC CTCCCTCCTCCCTTCCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCC TCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCC CTTCCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCC TCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTC TTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTT CCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTC CTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCT TCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCC TTCCACCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCT CTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTCTCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TTLL8_chr22_50013575_50063298	50028634	C C	CCTCGTAA others(610): Show CCTCGTAAAGACCCCCATCACACCGTCCTGAAGACCCCACACACACTCGT AAAGACCCCATCACACCGTCCTGAAGACCCCACACACACTCGTAAAGACC CCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCAC ACCATCCTGAAGACCCCCACACACACTCGTAAAGACCCCATCACACCGTC CTGAAGACCCCACACACACTCGTAAAGACCCCCGTCATACCATCCTGAAG ACCCCACACACCCTCGTAAAGACCCCCATCATACCATCCTAAAGACCCCC ACACACACTCGTAAAGACCCCATCACACCGTCCTGAAGACCCACACATAC CCTCGTAAAGACCCCATCACACCATCCTAAAGACCCCCACATACCCTCGT AAAGACCCCCATCACACCATCCTGAAGACCCCCACACACACTCGTAAAGA CCCCCATCACACCGTCCTGAAGACCCCACACACACTCGTAAAGACCCCCG TCATACCATCCTAAAGACCCCCACACACACTCGTAAAGACCCCATCACAC CGTCCTGAAGACCCCCACATACCCTCGTAAAGACCCCCATCACACCATCC TGAAGACCCCCACACACA	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18980.hp1 NA18951.hp2 NA18980.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0001 a0008c0008t0001	a0008c0008t0001g0164 a0008c0008t0001g0165 a0008c0008t0001g0164 a0008c0008t0001g0165	2	192	0.0104	617	c.225 others(636): Show c.2251+1795_2251+1796insTGTGTGTGGGGGTCTTCAGGATGGTG TGATGGGGGTCTTTACGAGGGTATGTGGGGGTCTTCAGGACGGTGTGATG GGGTCTTTACGAGTGTGTGTGGGGGTCTTTAGGATGGTATGACGGGGGTC TTTACGAGTGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGGTCTTTACG AGTGTGTGTGGGGGTCTTCAGGATGGTGTGATGGGGGTCTTTACGAGGGT ATGTGGGGGTCTTTAGGATGGTGTGATGGGGTCTTTACGAGGGTATGTGT GGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGGTCT TTAGGATGGTATGATGGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGA TGGTATGACGGGGGTCTTTACGAGTGTGTGTGGGGTCTTCAGGACGGTGT GATGGGGTCTTTACGAGTGTGTGTGGGGGTCTTCAGGATGGTGTGATGGG GTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTA CGAGTGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGTGT GTGTGGGGTCTTCAGGACGGTGTGATGGGGGTCTTTACGAG	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TTLL8_chr22_50013575_50063298	50028634	C C	CCTCGTAA others(610): Show CCTCGTAAAGACCCCCATCACACCGTCCTGAAGACCCCACACACACTCGT AAAGACCCCATCACACCGTCCTGAAGACCCCACACACACTCGTAAAGACC CCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCAC ACCATCCTGAAGACCCCCACACACACTCGTAAAGACCCCCATCACACCGT CCTGAAGACCCCACACACACTCGTAAAGACCCCCGTCATACCATCCTGAA GACCCCACACACCCTCGTAAAGACCCCCATCATACCATCCTAAAGACCCC CACACACACTCGTAAAGACCCCATCACACCGTCCTGAAGACCCACACATA CCCTCGTAAAGACCCCATCACACCATCCTAAAGACCCCCACACACACTCG TAAAGACCCCATCACACCATCCTGAAGACCCCCACACACACTCGTAAAGA CCCCCATCACACCGTCCTGAAGACCCCACACACACTCGTAAAGACCCCCG TCATACCATCCTAAAGACCCCCACACACACTCGTAAAGACCCCATCACAC CGTCCTGAAGACCCCCACATACCCTCGTAAAGACCCCCATCACACCATCC TGAAGACCCCCACACACA	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0020 a0020	a0020c0024 a0020c0024	a0020c0024t0001 a0020c0024t0001	a0020c0024t0001g0183 a0020c0024t0001g0183	1	191	0.0052	617	c.225 others(636): Show c.2251+1795_2251+1796insTGTGTGTGGGGGTCTTCAGGATGGTG TGATGGGGGTCTTTACGAGGGTATGTGGGGGTCTTCAGGACGGTGTGATG GGGTCTTTACGAGTGTGTGTGGGGGTCTTTAGGATGGTATGACGGGGGTC TTTACGAGTGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGGTCTTTACG AGTGTGTGTGGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGTGTG TGTGGGGGTCTTTAGGATGGTGTGATGGGGTCTTTACGAGGGTATGTGTG GGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGGTCTT TAGGATGGTATGATGGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGAT GGTATGACGGGGGTCTTTACGAGTGTGTGTGGGGTCTTCAGGACGGTGTG ATGGGGGTCTTTACGAGTGTGTGTGGGGGTCTTCAGGATGGTGTGATGGG GTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTA CGAGTGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGTGT GTGTGGGGTCTTCAGGACGGTGTGATGGGGGTCTTTACGAG	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
ULK1_chr12_131889622_131928150	131917167	C C	CGGAGGCT others(610): Show CGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCT GTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATG GGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGG AGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCT CGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGG GGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGA GGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTC GGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCT GTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGT TCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGG GATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGG CTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATG GGGGTCGGGTGGGGCTTG	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp1 HG03490.hp1 HG03492.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0231 a0001c0003t0010g0253 a0001c0003t0010g0231 a0001c0003t0010g0253	2	69	0.0290	617	c.218 others(634): Show c.2182+106_2182+107insGAGGCTGTGGGATGGGGGTCGGAGGCTG TGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGG GGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGA GGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGG GATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGG CTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATG GGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCG GAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGG TCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGG CTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGG GTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGT GGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTC GGCTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTTGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
UMAD1_chr7_7635752_7884223	7679116	G G	GTTTATAA others(610): Show GTTTATAAACATATATTTATATATTTAGTTTATAAATATATATTTATATA TTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATATTTA TATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATA TTTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATA TATATTTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATA AATATATATTTATATATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATATTTACATATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAGTTTATAAATACATATTTATAT ATTTAGTTTATAAATACATATTTATATATTTAGTTTATAAATACATATTT ATATATTTAGTTTATAAATACATATTTATATATTTAATTTATAGATAAAT ATATATTTATATATTTAA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0078 a0001c0001t0078	a0001c0001t0078g0149 a0001c0001t0078g0149	1	225	0.0044	617	c.82+ others(632): Show c.82+5669_82+5670insAACATATATTTATATATTTAGTTTATAAAT ATATATTTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTAT AAATATATATTTATATATTTAGTTTATAAATATATATTTATATATTTAGT TTATAAATATATATTTATATATTTAGTTTATAAATATATATTTATATATT TAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATATTTATA TATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATATT TACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATACATATT TACATATTTAGTTTATAAATATTTACATATTTAGTTTATAAATACATATT TACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATACA TATTTATATATTTAGTTTATAAATACATATTTATATATTTAGTTTATAAA TACATATTTATATATTTAGTTTATAAATACATATTTATATATTTAGTTTA TAAATACATATTTATATATTTAGTTTATAAATACATATTTATATATTTAA TTTATAGATAAATATATATTTATATATTTAATTTATA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
WDR7_chr18_56646359_57034792	57024511	G G	GATTTCAC others(610): Show GATTTCACATATCCCTATTCTCAGGCAGGAATAGGGATATGTGACTATGA TAGTTATGTCCCTTATAGAATTTCACATATCCCTATTCTCAGACAGGAAT AGGGATATGTGAACTATGATAGTTATGTCCCTTATAGAATTTCACATATC CCTATTCTCAGACAGGAATAGGGATATGTGAACTATGGTAGTTATGTCCC TTATAGAATTTCACATATCCCTATTCTCAGACAGGAATAGGGATATGTGA ACTATGATAGTTATGTCCCTTACAGGATTTCACATATCCCTATTCTCAGA CAGGAATAGGGATATGTGACTATGATAGTTATGTCCCTTATAGAATTTCA CATATCCCTATTCTCAGACAGGAATAGGGATATGTGAACTATGGTAGTTA TGTCCCTTACAGGATTTCACATATCCCTATTCTCAGGCAGGAATAGGGAT ATGTGACTATGATAGTTATGTCCCTTATAGAATTTCACATATCCCTATTC TCAGACAGGAATAGGGATATGTGAACTATGATAGTTATGTCCCTTACAGG ATTTCACATATCCCTATTCTCAGACAGGAATAGGGATATGTGACTATGAT AGTTATGTCCCTTATAGA	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0016 a0001c0001t0003g0016	1	128	0.0078	617	c.427 others(636): Show c.4270-2470_4270-2469insGCAGGAATAGGGATATGTGACTATGA TAGTTATGTCCCTTATAGAATTTCACATATCCCTATTCTCAGACAGGAAT AGGGATATGTGAACTATGATAGTTATGTCCCTTATAGAATTTCACATATC CCTATTCTCAGACAGGAATAGGGATATGTGAACTATGGTAGTTATGTCCC TTATAGAATTTCACATATCCCTATTCTCAGACAGGAATAGGGATATGTGA ACTATGATAGTTATGTCCCTTACAGGATTTCACATATCCCTATTCTCAGA CAGGAATAGGGATATGTGACTATGATAGTTATGTCCCTTATAGAATTTCA CATATCCCTATTCTCAGACAGGAATAGGGATATGTGAACTATGGTAGTTA TGTCCCTTACAGGATTTCACATATCCCTATTCTCAGGCAGGAATAGGGAT ATGTGACTATGATAGTTATGTCCCTTATAGAATTTCACATATCCCTATTC TCAGACAGGAATAGGGATATGTGAACTATGATAGTTATGTCCCTTACAGG ATTTCACATATCCCTATTCTCAGACAGGAATAGGGATATGTGACTATGAT AGTTATGTCCCTTATAGAATTTCACATATCCCTATTCTCAG	WDR7	ENSG00000091157.15	transcript	ENST00000254442.8	protein_coding	27/27		INFO_REALIGN_3_PRIME	chr18	TogoVar
ZBTB8A_chr1_32534427_32610941	32581182	T T	TTATATAT others(610): Show TTATATATAAATATATAACTATATTATAATATAGTTATAATATATAATAT ATATTATAACTATATTAAATATATAAATTATATAATATATATTATATATT GTATATTATATAATTTATATAATATATTATATGTTATATAATATATATTA TATATTGTATATATTATATTATATATTATATATTTTATATATCATATATA GTATGCTATATAATATATATTTTTATATATTATATAGTATACTATATATT TTTATATATTATATATAATATATATAATTATATATCATATATATTTATAT AATATATGATATATAATATATAATATATATTATGTATTATATAATTATAT AAAATATATCATATATTATATATTATAAATAATATATTATATATATTATA TATTATAAATAATATATTATATATATTATATATTATAAATAATATATTAT ATATATTATATATTATAAATAATATATTATATATTATATTATATATTATA AATAATATATTATATATTATATTATATATTATAAATAATATATTATATAT TATATTATATATTATAAATAATATATTATATATTATATTATAAATAATAT ATTATATATAATATGTTA	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0242 a0001c0001t0002g0242	1	44	0.0227	617	c.-1- others(634): Show c.-1-11744_-1-11743insATAAATATATAACTATATTATAATATAG TTATAATATATAATATATATTATAACTATATTAAATATATAAATTATATA ATATATATTATATATTGTATATTATATAATTTATATAATATATTATATGT TATATAATATATATTATATATTGTATATATTATATTATATATTATATATT TTATATATCATATATAGTATGCTATATAATATATATTTTTATATATTATA TAGTATACTATATATTTTTATATATTATATATAATATATATAATTATATA TCATATATATTTATATAATATATGATATATAATATATAATATATATTATG TATTATATAATTATATAAAATATATCATATATTATATATTATAAATAATA TATTATATATATTATATATTATAAATAATATATTATATATATTATATATT ATAAATAATATATTATATATATTATATATTATAAATAATATATTATATAT TATATTATATATTATAAATAATATATTATATATTATATTATATATTATAA ATAATATATTATATATTATATTATATATTATAAATAATATATTATATATT ATATTATAAATAATATATTATATATAATATGTTATATAT	ZBTB8A	ENSG00000160062.15	transcript	ENST00000373510.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ABCC1_chr16_15944616_16148053	15999866	C C	CCTTCCTT others(611): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTTCTTTTCTTT TCTTTTCTTTTCCTTTCCTTTCCTTTCCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0010 a0001c0002t0004g0010	1	209	0.0048	618	c.49- others(633): Show c.49-7950_49-7949insCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCTTTCTTTTCTTTTCTTTTCTTTTCTTTTCCTTTCCTTTCCTTTCCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	1/30			chr16	TogoVar
ABCC6_chr16_16144565_16228494	16172068	G G	GGTGGGAT others(611): Show GGTGGGATGGCTAAATGAGTGGGTGGGATGGATAAATGAATGGGTGGGAT GCATAAATGAGTGAGTGGGATGGATAAATGGGTGGGTGGGATGGATAAAT GAGTGGGTGGGATGCATAAATGAGTGAGTGGGATGGATAAATGGGTGGGT GGGATGGATAAATGAGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGA TAAATGAGTGGGTGGGATGGATAAATGAGTGGGTGGGATGCATAAATGAG TGGGTGGGATGCATAAATGAGGTGGGATGGATAAATGAGTGGGTGGGATG GATAAATGAGTGGGTGGGATGGATAAATGAGGGGGTGGGATGGATGGATA AATGAGTGGGTGGGATGGATAAATGAGTGGGTGGGATGGATAAATGGGTG GGTGGGATGGCTAAATGAGTGGGTGGGATGGATAAATGAGGGGGTGGGAT GGATGGATAAATGAGTGGGTGGGATGGATAAATGAGTGGGTGGGATGGAT AAATGGGTGGGTGGGATGGATAAATGAGTGGTTGGGTGGGTGGGATGGAT AAATAAGTGGATGGGATGGATAAATGGGAGGGTGGGATGGATAAATGAGT AGGTGGGATGCATAAATGA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02109.hp1 HG02818.hp2 others(1): Show HG00639.hp2 HG02109.hp1 HG02818.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0049 a0002c0068 a0001c0001 a0001c0049 a0002c0068	a0001c0001t0001 a0001c0049t0001 a0002c0068t0001 a0001c0001t0001 a0001c0049t0001 a0002c0068t0001	a0001c0001t0001g0233 a0001c0001t0001g0305 a0001c0049t0001g0352 others(1): Show a0001c0001t0001g0233 a0001c0001t0001g0305 a0001c0049t0001g0352 a0002c0068t0001g0097	4	312	0.0128	618	c.278 others(637): Show c.2787+1215_2787+1216insTCATTTATGCATCCCACCTACTCATT TATCCATCCCACCCTCCCATTTATCCATCCCATCCACTTATTTATCCATC CCACCCACCCAACCACTCATTTATCCATCCCACCCACCCATTTATCCATC CCACCCACTCATTTATCCATCCCACCCACTCATTTATCCATCCATCCCAC CCCCTCATTTATCCATCCCACCCACTCATTTAGCCATCCCACCCACCCAT TTATCCATCCCACCCACTCATTTATCCATCCCACCCACTCATTTATCCAT CCATCCCACCCCCTCATTTATCCATCCCACCCACTCATTTATCCATCCCA CCCACTCATTTATCCATCCCACCTCATTTATGCATCCCACCCACTCATTT ATGCATCCCACCCACTCATTTATCCATCCCACCCACTCATTTATCCATCC CACCCACCCATTTATCCATCCCACCCACTCATTTATCCATCCCACCCACC CATTTATCCATCCCACTCACTCATTTATGCATCCCACCCACTCATTTATC CATCCCACCCACCCATTTATCCATCCCACTCACTCATTTATGCATCCCAC CCATTCATTTATCCATCCCACCCACTCATTTAGCCATCCCAC	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	21/30			chr16	TogoVar
ADPRHL1_chr13_113394611_113458488	113424685	T T	TATCCACC others(611): Show TATCCACCCATCCACCCACCCATCCATTCACCATCCACTCATCCATCCAC CCATCCATTCGCCCACCCATTTATCAACCCATCCATTCACCCACCCTTCC ACCACCCACCCACCCACCCATCCATATACCCACCCACCCATCAATTCACC CGTCCACTCATCCATCCACCCACCCATTCATCCATTCACCCACCCATTCA TCCATCCACCCACCCATTCATCCATTCACCCACCCATTCATCCATCCACC CATCCATTCATCCATCCACCCACCCATTCATCCATCCACCCATCCATTCA TCCATCCACCCATCCATTCATCCATTCACCCACCCATTCATCCATCCACC CATCCATTCATCCATTCACCCACCCACTCATCCATCCACCCATCCATTCA TCCATCCACCCATCCATTCATCCATTCGCCCACCCATTTACCTACCCATT AATTCACCCACCCTTCCACCACCCACCCACCCATCCATATACCCACCCAC CCATTCACCCATCCATTCATCCATCCACCCACCCACCCATTCACCCACCC ACCCAGCCATCTCACCCATTCACCCATCCACTCATCCATTCACCTATCCA CCCACCCATCCACTCATCC	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0003 a0003	a0003c0040 a0003c0040	a0003c0040t0035 a0003c0040t0035	a0003c0040t0035g0193 a0003c0040t0035g0193	1	7	0.1429	618	c.775 others(633): Show c.775-337_775-336insGGATGAGTGGATGGGTGGGTGGATAGGTGA ATGGATGAGTGGATGGGTGAATGGGTGAGATGGCTGGGTGGGTGGGTGAA TGGGTGGGTGGGTGGATGGATGAATGGATGGGTGAATGGGTGGGTGGGTA TATGGATGGGTGGGTGGGTGGTGGAAGGGTGGGTGAATTAATGGGTAGGT AAATGGGTGGGCGAATGGATGAATGGATGGGTGGATGGATGAATGGATGG GTGGATGGATGAGTGGGTGGGTGAATGGATGAATGGATGGGTGGATGGAT GAATGGGTGGGTGAATGGATGAATGGATGGGTGGATGGATGAATGGATGG GTGGATGGATGAATGGGTGGGTGGATGGATGAATGGATGGGTGGATGGAT GAATGGGTGGGTGAATGGATGAATGGGTGGGTGGATGGATGAATGGGTGG GTGAATGGATGAATGGGTGGGTGGATGGATGAGTGGACGGGTGAATTGAT GGGTGGGTGGGTATATGGATGGGTGGGTGGGTGGGTGGTGGAAGGGTGGG TGAATGGATGGGTTGATAAATGGGTGGGCGAATGGATGGGTGGATGGATG AGTGGATGGTGAATGGATGGGTGGGTGGATGGGTGGAT	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	5/7			chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113424685	T T	TATCCACC others(611): Show TATCCACCCATCCACCCACCCATCCATTCACCATCCACTCATCCATCCAC CCATCCATTCGCCCACCCATTTATCAACCCATCCATTCACCCACCCTTCC ACCACCCACCCACCCACCCATCCATATACCCACCCACCCATCAATTCACC CGTCCACTCATCCATCCACCCACCCATTCATCCATTCACCCACCCATTCA TCCATCCACCCATCCATTCATCCATCCACCCATCCATTCATCCATCCACC CATCCATTCATCCATTCACCCACCCATTCATCCATCCACCCACCCATTCA TCCATCCACCCACCCATTCATCCATCCACCCACCCATTCATCCATCCACC CACCCATTCATCCATCCACCCATCCATTCATCCATCCACCCATCCATTCA TCCATCCACCCATCCATTCATCCATTCACCCACCCATTTACCTACCCATT AATTCACCCACCCTTCCACCACCCACCCACCCATCCATATACCCACCCAC CCATTCACCCATCCATTCATCCATCCACCCACCCACCCATTCACCCACCC ACCCAGCCATCTCACCCATTCACCCATCCACTCATCCATTCACCTATCCA CCCACCCATCCACTCATCC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03130.hp1 HG03471.hp2 HG02572.hp2 HG03130.hp1 HG03471.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0017 a0002c0005t0090 a0002c0005t0091 a0001c0001t0017 a0002c0005t0090 a0002c0005t0091	a0001c0001t0017g0079 a0002c0005t0090g0055 a0002c0005t0091g0112 a0001c0001t0017g0079 a0002c0005t0090g0055 a0002c0005t0091g0112	3	9	0.3333	618	c.775 others(633): Show c.775-337_775-336insGGATGAGTGGATGGGTGGGTGGATAGGTGA ATGGATGAGTGGATGGGTGAATGGGTGAGATGGCTGGGTGGGTGGGTGAA TGGGTGGGTGGGTGGATGGATGAATGGATGGGTGAATGGGTGGGTGGGTA TATGGATGGGTGGGTGGGTGGTGGAAGGGTGGGTGAATTAATGGGTAGGT AAATGGGTGGGTGAATGGATGAATGGATGGGTGGATGGATGAATGGATGG GTGGATGGATGAATGGATGGGTGGATGGATGAATGGGTGGGTGGATGGAT GAATGGGTGGGTGGATGGATGAATGGGTGGGTGGATGGATGAATGGGTGG GTGGATGGATGAATGGGTGGGTGAATGGATGAATGGATGGGTGGATGGAT GAATGGATGGGTGGATGGATGAATGGATGGGTGGATGGATGAATGGGTGG GTGAATGGATGAATGGGTGGGTGGATGGATGAGTGGACGGGTGAATTGAT GGGTGGGTGGGTATATGGATGGGTGGGTGGGTGGGTGGTGGAAGGGTGGG TGAATGGATGGGTTGATAAATGGGTGGGCGAATGGATGGGTGGATGGATG AGTGGATGGTGAATGGATGGGTGGGTGGATGGGTGGAT	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	5/7			chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113424685	T T	TATCCACC others(611): Show TATCCACCCATCCACCCACCCATCCATTCACCATCCACTCATCCATCCAC CCATCCATTCGCCCACCCATTTATCAACCCATCCATTCACCCACCGTTCC ACCACCCACCCACCCACCCATCCATATACCCACCCACCCATCAATTCACC CGTCCACTCATCCATCCACCCACCCATTCATCCATTCACCCACCCATTCA TCCATCCACCCATCCATTCATCCATTCACCCACCCATTCATCCATCCACC CATCCATTCATCCATTCACCCACCCATTCATCCATCCACCCACCCATTCA TCCATTCACCCACCCATTCATCCATCCACCCATCCATTCATCCATTCACC CACCCATTCATCCATTCACCCATCCATTCATCCATTCACCCACCCATTCA TCCATCCACCCATCCATTCATCCATTCACCCACCCATTTACCTACCCATT AATTCACCCACCCTTCCACCACCCACCCACCCATCCATATACCCACCCAC CCATTCACCCATCCATTCATCCATCCACCCACCCACCCATTCACCCACCC ACCCAGCCATCTCACCCATTCACCCATCCACTCATCCATTCACCTATCCA CCCACCCATCCACTCATCC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0029 a0002c0029	a0002c0029t0025 a0002c0029t0025	a0002c0029t0025g0122 a0002c0029t0025g0122	1	7	0.1429	618	c.775 others(633): Show c.775-337_775-336insGGATGAGTGGATGGGTGGGTGGATAGGTGA ATGGATGAGTGGATGGGTGAATGGGTGAGATGGCTGGGTGGGTGGGTGAA TGGGTGGGTGGGTGGATGGATGAATGGATGGGTGAATGGGTGGGTGGGTA TATGGATGGGTGGGTGGGTGGTGGAAGGGTGGGTGAATTAATGGGTAGGT AAATGGGTGGGTGAATGGATGAATGGATGGGTGGATGGATGAATGGGTGG GTGAATGGATGAATGGATGGGTGAATGGATGAATGGGTGGGTGAATGGAT GAATGGATGGGTGGATGGATGAATGGGTGGGTGAATGGATGAATGGGTGG GTGGATGGATGAATGGGTGGGTGAATGGATGAATGGATGGGTGGATGGAT GAATGGGTGGGTGAATGGATGAATGGATGGGTGGATGGATGAATGGGTGG GTGAATGGATGAATGGGTGGGTGGATGGATGAGTGGACGGGTGAATTGAT GGGTGGGTGGGTATATGGATGGGTGGGTGGGTGGGTGGTGGAACGGTGGG TGAATGGATGGGTTGATAAATGGGTGGGCGAATGGATGGGTGGATGGATG AGTGGATGGTGAATGGATGGGTGGGTGGATGGGTGGAT	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	5/7			chr13	TogoVar
AFF2_chrX_148495617_149005663	148581275	T T	TACGTATA others(611): Show TACGTATACGTATACACACATATACGTATACGTATACACACATATACACG TATACGTATACACACATATACACGTATACGTATACACACATATACACGTA TACGTATACGTGTACACACATATACACGTATATACGTATACGTGTACACA CATATACACGTATATACGTATACGTGTACACACATATACACGTATATACG TATACGTGTACACACATATACACGTATATACGTATACGTGTACACACATA TATATACACGTATATATACGTATACGTGTACACACACACACGTATATATA CGTATACGTGTACACACACACGTATATATACGTATACGTGTACACACACA CGTATATATACGTATACGTGTACACACACACGTATATATACGTATACGTG TACACACACACGTATATATACGTATACGTGTACACACACACGTATATACG TATACGTGTACACACACACACGTATATACGTATACGTGTACACACACATA CACGTATATACGTATACGTGTACACACATATACACGTATACGTGTACACA CATATACACGTATACGTGTACACACATATACACGTATACGTGTACACACA TATACACGTATACGTGTAC	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	104	0.0096	618	c.48- others(635): Show c.48-70722_48-70721insGTATACGTATACACACATATACGTATAC GTATACACACATATACACGTATACGTATACACACATATACACGTATACGT ATACACACATATACACGTATACGTATACGTGTACACACATATACACGTAT ATACGTATACGTGTACACACATATACACGTATATACGTATACGTGTACAC ACATATACACGTATATACGTATACGTGTACACACATATACACGTATATAC GTATACGTGTACACACATATATATACACGTATATATACGTATACGTGTAC ACACACACACGTATATATACGTATACGTGTACACACACACGTATATATAC GTATACGTGTACACACACACGTATATATACGTATACGTGTACACACACAC GTATATATACGTATACGTGTACACACACACGTATATATACGTATACGTGT ACACACACACGTATATACGTATACGTGTACACACACACACGTATATACGT ATACGTGTACACACACATACACGTATATACGTATACGTGTACACACATAT ACACGTATACGTGTACACACATATACACGTATACGTGTACACACATATAC ACGTATACGTGTACACACATATACACGTATACGTGTACAC	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
APOOL_chrX_84998877_85098315	85088071	C C	CGTATTAA others(611): Show CGTATTAATACATATATGTATAAATACGTATTAATACATATATGTATAAA TACATACATATTTATACATATATGTATACATACATATTTATACATATATA TGTATAAATACATACATATTTATACATATATATGTATAAATACATACATA TTTATACATATATATGTATAAATACGTACATATTTATACATATATATGTA TAAATACGTACATATTTATACATATATATGTATAAATACGTACATATTTA TACATATATATGTATAAATACGTACATATTTATACATATATATGTATAAA TACGTACATATTTATACATATATATGTATAAATACGTACATATTTATACA TATATATGTATAAATACGTACATATTTATACATATATGTATAAATACATA TACATATTTATACATATATGTATAAATACATATACATATTTATACATATA TGTATAAATACATATACATATTTATACATATATGTATAAATACATATACA TATTTATACATATATGTATAAATACATATACATATATGTATAAATACATA TACATATTTATACATATATGTATAAATACATACACATATTTATACATATA TGTATAAATACATACATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0058 a0001c0001t0006g0058	1	221	0.0045	618	c.39 others(627): Show c.393_*394insGTATTAATACATATATGTATAAATACGTATTAATAC ATATATGTATAAATACATACATATTTATACATATATGTATACATACATAT TTATACATATATATGTATAAATACATACATATTTATACATATATATGTAT AAATACATACATATTTATACATATATATGTATAAATACGTACATATTTAT ACATATATATGTATAAATACGTACATATTTATACATATATATGTATAAAT ACGTACATATTTATACATATATATGTATAAATACGTACATATTTATACAT ATATATGTATAAATACGTACATATTTATACATATATATGTATAAATACGT ACATATTTATACATATATATGTATAAATACGTACATATTTATACATATAT GTATAAATACATATACATATTTATACATATATGTATAAATACATATACAT ATTTATACATATATGTATAAATACATATACATATTTATACATATATGTAT AAATACATATACATATTTATACATATATGTATAAATACATATACATATAT GTATAAATACATATACATATTTATACATATATGTATAAATACATACACAT ATTTATACATATATGTATAAATACATACATAT	APOOL	ENSG00000155008.16	transcript	ENST00000373173.7	protein_coding	9/9	394		chrX	TogoVar
AZU1_chr19_822837_837018	835500	G G	GCAGCCCC others(611): Show GCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGT GCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCA CCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCC CCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGT GCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCC CCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCAGCCCCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCG TGCAGCCTCCTGGCAGAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0006 a0001c0004t0001g0006	1	296	0.0034	618	c.36 others(629): Show c.3623_*3624insCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGG CCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGA CGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGC CCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTC CAGGCCCCGACGCGTGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCC CCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTG CGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCTGGCAGAGCCAGCCCCGT CCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3483		chr19	TogoVar
B3GNTL1_chr17_82937149_83056770	82972591	C C	CAGAAGGA others(611): Show CAGAAGGACCTGGTACTGACCACACCACACCACAGGGGATAGAAGGACCC AGTACTGACCACACCACACCACAGGGGCTAGAAGGACCTGGTGCCGACCA CAGCACACCACAGGGGCTAGAAGGACCTGGTGCTGACCACACCACACCAC AGGGGCTAGAAGGACCTGGTGCCGACACACCACACCATGGGCCAGAAGGA CCTGGTGCCGACCACACCACACCACAGGGGATAGAAGGACCCAGTACTGA CCACACCACACCACAGGGGCTAGAAGGACCTGGTGCCGACCACAGCACAC CACAGGGGCTAGAAGGACCTGGTGCTGACCACACCACACCACAGGGGCTA GAAGGACCTGGTGCCGACACACCACACCATGGGCCAGAAGGACCTGGTGC CGACCACACCACACCACAGGGGATAGAAGGACCCAGTACTGACCACACCA CACCACAGGGGCTAGAAGGACCTGGTGCCGACCACAGCACACCACAGGGG CTAGAAGGACCTGGTGCTGACCACACCACACCACAGGGGCTAGAAGGACC TGGTGCCGACCACAGCACACCACAGGGGCTAGAAGGACCTGGTGCCGACC ACACCACACCACAGGGGCT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	264	0.0038	618	c.460 others(635): Show c.460-6846_460-6845insAGCCCCTGTGGTGTGGTGTGGTCGGCAC CAGGTCCTTCTAGCCCCTGTGGTGTGCTGTGGTCGGCACCAGGTCCTTCT AGCCCCTGTGGTGTGGTGTGGTCAGCACCAGGTCCTTCTAGCCCCTGTGG TGTGCTGTGGTCGGCACCAGGTCCTTCTAGCCCCTGTGGTGTGGTGTGGT CAGTACTGGGTCCTTCTATCCCCTGTGGTGTGGTGTGGTCGGCACCAGGT CCTTCTGGCCCATGGTGTGGTGTGTCGGCACCAGGTCCTTCTAGCCCCTG TGGTGTGGTGTGGTCAGCACCAGGTCCTTCTAGCCCCTGTGGTGTGCTGT GGTCGGCACCAGGTCCTTCTAGCCCCTGTGGTGTGGTGTGGTCAGTACTG GGTCCTTCTATCCCCTGTGGTGTGGTGTGGTCGGCACCAGGTCCTTCTGG CCCATGGTGTGGTGTGTCGGCACCAGGTCCTTCTAGCCCCTGTGGTGTGG TGTGGTCAGCACCAGGTCCTTCTAGCCCCTGTGGTGTGCTGTGGTCGGCA CCAGGTCCTTCTAGCCCCTGTGGTGTGGTGTGGTCAGTACTGGGTCCTTC TATCCCCTGTGGTGTGGTGTGGTCAGTACCAGGTCCTTCT	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
CACNA1C_chr12_2047987_2702950	2407255	C C	CACATCGT others(611): Show CACATCGTCTCCACCGACACCATGTGGGTACTGGGGAGCCTCATCATGAC CCAGTGGGAAGGAACGTCCTTTTGATAATAGCCGTCCTGATAAGTGTGCA GTGGACATCGTCTCCACCGACACCATGTGGGTACTGGGGAGCTTCATCAT GACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCGTCCTGATAAGTGT GCAGTGGACATCGTCTCCACCGACACCATGTGGGTACTGGGGAGCCTCAT CATGACCCAGTGGGAAGGAATGTCCTTTTGATAATAGCCGTCCTGATAAG TGTGCGGTGGACATCGTCTCCACCGACACCATGTGGGTACTGGGGAGCTT CATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCGTCCTGAT AAGTGTGCAGTGGACATCGTCTCCACCGACACCATGTGGGTACTGGGGAG CCTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCGTCCT GATAAGTGTGCAGTGGACATCGTCTCCACCGACACCATGTGGGTACTGGG GAGCTTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCGT CCTGATAAGTGTGCGGTGG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0049	1	94	0.0106	618	c.478 others(637): Show c.478-41452_478-41451insTGTCCTTTTGATAATAGCCGTCCTGA TAAGTGTGCGGTGGACATCGTCTCCACCGACACCATGTGGGTACTGGGGA GCTTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCGTCC TGATAAGTGTGCAGTGGACATCGTCTCCACCGACACCATGTGGGTACTGG GGAGCCTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCG TCCTGATAAGTGTGCAGTGGACATCGTCTCCACCGACACCATGTGGGTAC TGGGGAGCTTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAG CCGTCCTGATAAGTGTGCGGTGGACATCGTCTCCACCGACACCATGTGGG TACTGGGGAGCCTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAA TAGCCGTCCTGATAAGTGTGCAGTGGACATCGTCTCCACCGACACCATGT GGGTACTGGGGAGCTTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGA TAATAGCCGTCCTGATAAGTGTGCAGTGGACATCGTCTCCACCGACACCA TGTGGGTACTGGGGAGCCTCATCATGACCCAGTGGGAAGGAA	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2407706	C C	CTCATCAT others(611): Show CTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCGTCCTG ATAAGTGTGCAGTGGACATCGTCTCCACCGACACCATGTGGGTACTGGGG AGCTTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCGTC CTGATAAGTGTGCGGTGGACATCGTCTCCACCGACACCATGTGGGTACTG GGGAGCCTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCC GTCCTGATAAGTGTGCAGTGGACATCGTCTCCACCGACACCATGTGGGTA CTGGGGAGCTTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATA GCCGTCCTGATAAGTGTGCGGTGGACATCGTCTCCACCGACACCATGTGG GTACTGGGGAGCTTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATA ATAGCCGTCCTGATAAGTGTGCGGTGGACATCGTCTCCACCGACACCATG TGGGTACTGGGGAGCCTCATCATGACCCAGTGGGAAGGAACGTCCTTTTG ATAATAGCCGTCCTGATAAGTGTGCAGTGGACATCGTCTCCACCGACACC ATGTGGGTACTGGGGAGCT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0040 a0001c0003t0040	a0001c0003t0040g0011 a0001c0003t0040g0011	1	93	0.0108	618	c.478 others(637): Show c.478-41246_478-41245insCGTCCTTTTGATAATAGCCGTCCTGA TAAGTGTGCAGTGGACATCGTCTCCACCGACACCATGTGGGTACTGGGGA GCTTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCGTCC TGATAAGTGTGCGGTGGACATCGTCTCCACCGACACCATGTGGGTACTGG GGAGCCTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCG TCCTGATAAGTGTGCAGTGGACATCGTCTCCACCGACACCATGTGGGTAC TGGGGAGCTTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAG CCGTCCTGATAAGTGTGCGGTGGACATCGTCTCCACCGACACCATGTGGG TACTGGGGAGCTTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAA TAGCCGTCCTGATAAGTGTGCGGTGGACATCGTCTCCACCGACACCATGT GGGTACTGGGGAGCCTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGA TAATAGCCGTCCTGATAAGTGTGCAGTGGACATCGTCTCCACCGACACCA TGTGGGTACTGGGGAGCTTCATCATGACCCAGTGGGAAGGAA	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1H_chr16_1148106_1226768	1185649	T T	TCAGCGTG others(611): Show TCAGCGTGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGTGAGTAGA CGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGT AGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTGTGTACGGGGCGGGTG AGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGG GCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGG CGGGCGAGTAGACGGTCAGCGTGCATAGGGCCGGAGGCGGGGTACGTGGG GGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTG TACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTG TACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGG TGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTG TACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACG TGGGGGGCGGGTGAGTAGA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0038 a0038	a0038c0119 a0038c0119	a0038c0119t0001 a0038c0119t0001	a0038c0119t0001g0306 a0038c0119t0001g0306	1	308	0.0032	618	c.300 others(635): Show c.300-9322_300-9321insAGCGTGCATAGGGCCGGGGGCGGGGTAC GTGGGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGG TACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCG GGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGG GCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCG GGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCAGCGTGCATAGGG CCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGGG CCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTA GGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTA GGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTG CGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTA GGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTA GGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGAC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185658	A A	ATAGGGCC others(611): Show ATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCA TGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCG GCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGG TCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGA CGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGTGAGT AGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGTG AGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTG AGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCA GGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCG GGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGG GGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCA GGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCG GGTGAGTAGACGGCATGTG	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0001 a0002c0013t0001	a0002c0013t0001g0159 a0002c0013t0001g0159	1	103	0.0097	618	c.300 others(635): Show c.300-9309_300-9308insCCGGGGGCGGGGTACGTGGGGGGCGGGC GAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCG GGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGG GCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGG GGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACG TGGGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGT ACGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGT GTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCG GGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCG GGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGA GGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCG GGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCG GGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CALN1_chr7_71774491_72417338	72209170	T T	TTCCTTCC others(611): Show TTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTTTCCCTCCTTCC CTCTTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCTT CCGTCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCC TTCCTTCCGTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTT CCCTCTTTCCTTCCCTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCC CTCTTTCCTTCCCTCCTTCCCTCCTTCCTTCCGTCCTTCCCTCCTTCCCT CCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCGTCCGTCCTTCCCTCC TTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTT CCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCCTCTTTCCTTCC CTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCTTCCCT CCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCTTTCCTTCC CTCCTTCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCT CCTTCCCTCCTTCCTTCCC	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0131 a0001c0001t0050g0131	1	127	0.0079	618	c.244 others(637): Show c.244+69515_244+69516insGGGAAGGAAGGAGGGAAGGAGGGAAG GAGGGAAGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGA AAGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAG GAAGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGA AAGAGGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAGG GAAGGAAAGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGA AGGACGGACGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAG GAGGGAAGGACGGAAGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAGGA GGGAAGGAAAGAGGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGG GAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGACGGAAGGAAGGAGGGA AGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGACGGAAGGAAG GAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAAAGAGGGAAGGA GGGAAAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72209170	T T	TTCCTTCC others(611): Show TTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTTTCCCTCCTTCC CTCTTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCTT CCGTCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCC TTCCTTCCGTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTT CCCTCTTTCCTTCCCTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCC CTCTTTCCTTCCCTCCTTCCCTCCTTCCTTCCGTCCTTCCCTCCTTCCCT CCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCTTCCGTCCTTCCCTCC TTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTT CCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCCTCTTTCCTTCC CTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCTTCCCT CCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCC CTCCTTCCCTCTTTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCCT CCTTCCCTCCTTCCTTCCC	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG03704.hp2 HG02129.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0044 a0001c0001t0021 a0001c0001t0044	a0001c0001t0021g0083 a0001c0001t0044g0098 a0001c0001t0021g0083 a0001c0001t0044g0098	2	128	0.0156	618	c.244 others(637): Show c.244+69515_244+69516insGGGAAGGAAGGAGGGAAGGAGGGAAG GAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGA AGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAG GAAGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGA AAGAGGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAGG GAAGGAAAGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGA AGGACGGAAGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAG GAGGGAAGGACGGAAGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAGGA GGGAAGGAAAGAGGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGG GAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGACGGAAGGAAGGAGGGA AGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGACGGAAGGAAG GAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAAAGAGGGAAGGA GGGAAAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72209170	T T	TTCCTTCC others(611): Show TTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTTTCCCTCCTTCC CTCTTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCTT CCGTCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCC TTCCTTCCGTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCTTT CCTTCCCTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCTTTCC TTCCCTCCTTCCCTCCTTCCTTCCGTCCTTCCCTCCTTCCCTCCTTCCCT CTTTCCTTCCCTCCTTCCCTCCTTCCTTCCGTCCTTCCCTCCTTCCCTCC TTCCTTCCCTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTT CCCTCTTTCCTTCCCTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCC CTCCTTCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCT CCTTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCC CTCTTTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCCT CCTTCCCTCCTTCCTTCCC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0133 a0001c0001t0052g0133	1	127	0.0079	618	c.244 others(637): Show c.244+69515_244+69516insGGGAAGGAAGGAGGGAAGGAGGGAAG GAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAAGAGGGAAGGA GGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAAG GAGGGAAGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGA GGGAAGGAAAGAGGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGG GAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGA AGGAGGGAAGGACGGAAGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAG GAGGGAAGGAGGGAAGGACGGAAGGAAGGAGGGAAGGAGGGAAGGAAAGA GGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAGGGAAGGAAAGAGG GAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGACGGAAGGAAGGAGGGA AGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGACGGAAGGAAG GAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAAAGAGGGAAGGA GGGAAAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CAMTA1_chr1_6780454_7774706	6940929	A A	AGGGGGGT others(611): Show AGGGGGGTCCTCAGAGGGAGAGGGATCCTCCCGGGGAAGGGGGATCCTCA CGGGGAAGGGCATCCTCAGGGGGAAGGGGGATCCTCATGGGGAGGGGGAT CCTCAGGGGGAGGGGAGATCCTCATGAGGAGGGGGGATCCTCACGGGGAG GGGGGGATCCTCCTCACAGGGAGGTGGATCCTCACGGGGAAGGGATCCTC AGGGGGAGGGGGATCCTCACAGGGAGGGGATCCTCGGGAAGGTGGATCCT CACGGGGAGGAGGATCCTCACGGGGAGGGGGATCCTCAGGGGGAGGAGGA TCCTCACGGGGAGGGGGATCCTCAGGGGGAGGGGGATCCTCACGGGGAGG GGATCCTCAGGGGGAGGTGGATCCTCACGGGGAGGAGGATCCTCACGGGG AGGGGGATCCTCAGGGGGAGGGGGATCCTCACGGGGAGGGGGATCCTCAG GGGGAGGGGGATCCTCACGGGGAGGGGGATCCTCAGGGGGAGGGGGATCC TCAGGGGGAGGGGGATCCTCACGGGGAGGCGGGTCCTCAGAGGGAGGGGG GATCCTTGTGGGGAGGGGGATCCTCACAGGGTGGGGGGATCCTCACAGGG TGGGGGGATCCTCACAGGG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0036	1	55	0.0182	618	c.234 others(639): Show c.234+115719_234+115720insGGGGGGTCCTCAGAGGGAGAGGGA TCCTCCCGGGGAAGGGGGATCCTCACGGGGAAGGGCATCCTCAGGGGGAA GGGGGATCCTCATGGGGAGGGGGATCCTCAGGGGGAGGGGAGATCCTCAT GAGGAGGGGGGATCCTCACGGGGAGGGGGGGATCCTCCTCACAGGGAGGT GGATCCTCACGGGGAAGGGATCCTCAGGGGGAGGGGGATCCTCACAGGGA GGGGATCCTCGGGAAGGTGGATCCTCACGGGGAGGAGGATCCTCACGGGG AGGGGGATCCTCAGGGGGAGGAGGATCCTCACGGGGAGGGGGATCCTCAG GGGGAGGGGGATCCTCACGGGGAGGGGATCCTCAGGGGGAGGTGGATCCT CACGGGGAGGAGGATCCTCACGGGGAGGGGGATCCTCAGGGGGAGGGGGA TCCTCACGGGGAGGGGGATCCTCAGGGGGAGGGGGATCCTCACGGGGAGG GGGATCCTCAGGGGGAGGGGGATCCTCAGGGGGAGGGGGATCCTCACGGG GAGGCGGGTCCTCAGAGGGAGGGGGGATCCTTGTGGGGAGGGGGATCCTC ACAGGGTGGGGGGATCCTCACAGGGTGGGGGGATCCTCACAGGG	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	3/22			chr1	TogoVar
CCDC57_chr17_82096470_82217842	82148365	G G	GTGGGTGG others(611): Show GTGGGTGGATGGGTAGATGGATGGATGGATGGTTGGGTGGGTGGGTGGAT GGATGGGTGGATGGATACATGGATGCATGGGTGGGTGAAATGATGAATGG GTGGGTGGATGGATGGATAGATAGGTGGGTGGATGGATGGGTGGGTGAAT GGTAGATGGATGGATGGATGGGTGGGTGGGTAGATGGATAGATGGATGGG TGGGCAGATAGATGAATGGGTGGGTGGATGGGTAGATGGATGGATGGTTG GGTGGGTGGACAGATGGACGGGTGGATGAATACATGGATGGGTGGGTGGA TGGATGGATGGAAGGATAGATAGGTGGGTGGATGGATGGGTGGGTGGGTG GGTGGATGGATGGGTGGGTGGGTGGATGGATGGGTGGGTGGGTGGATGGA TGGGTGGGTGGGTAGATGGGTGGATGGATAGATGGATGGGTGGGGGGGAT AAGTGGTTGGATGGTTAGACGGATGGATGGATGGATGAATAGATAGGTGG GTGGATGGATGGGTGGGTGGATAGTGGATGGATGGATGGGTGGGTGGGTA GATGGGTAGATGGATGGATGGATGGGTGGGTGGATGGATGGTAGATGGAT GGATGGGTGGGTGGATACA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02280.hp2 HG03098.hp1 others(1): Show HG01884.hp1 HG02280.hp2 HG03098.hp1 HG03471.hp2	a0008 a0020 a0008 a0020	a0008c0012 a0020c0026 a0008c0012 a0020c0026	a0008c0012t0001 a0020c0026t0001 a0008c0012t0001 a0020c0026t0001	a0008c0012t0001g0024 a0008c0012t0001g0025 a0008c0012t0001g0026 others(1): Show a0008c0012t0001g0024 a0008c0012t0001g0025 a0008c0012t0001g0026 a0020c0026t0001g0023	4	125	0.0320	618	c.245 others(637): Show c.2455+3194_2455+3195insTGTATCCACCCACCCATCCATCCATC TACCATCCATCCACCCACCCATCCATCCATCCATCTACCCATCTACCCAC CCACCCATCCATCCATCCACTATCCACCCACCCATCCATCCACCCACCTA TCTATTCATCCATCCATCCATCCGTCTAACCATCCAACCACTTATCCCCC CCACCCATCCATCTATCCATCCACCCATCTACCCACCCACCCATCCATCC ACCCACCCACCCATCCATCCACCCACCCACCCATCCATCCACCCACCCAC CCACCCATCCATCCACCCACCTATCTATCCTTCCATCCATCCATCCACCC ACCCATCCATGTATTCATCCACCCGTCCATCTGTCCACCCACCCAACCAT CCATCCATCTACCCATCCACCCACCCATTCATCTATCTGCCCACCCATCC ATCTATCCATCTACCCACCCACCCATCCATCCATCCATCTACCATTCACC CACCCATCCATCCACCCACCTATCTATCCATCCATCCACCCACCCATTCA TCATTTCACCCACCCATGCATCCATGTATCCATCCACCCATCCATCCACC CACCCACCCAACCATCCATCCATCCATCTACCCATCCACCCA	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding	15/18			chr17	TogoVar
CCDC57_chr17_82096470_82217842	82148365	G G	GTGGGTGG others(611): Show GTGGGTGGATGGGTAGATGGATGGATGGATGGTTGGGTGGGTGGGTGGAT GGATGGGTGGATGGATACATGGATGCGTGGGTGGGTGAAATGATGAATGG GTGGGTGGATGGATGGATAGATAGGTGGGTGGATGGATGGGTGGGTGAAT GGTAGATGGATGGATGGATGGGTGGGTGGGTAGATGGATAGATGGATGGG TGGGCAGATAGATGAATGGGTGGGTGGATGGGTAGATGGATGGATGGTTG GGTGGGTGGACAGATGGACGGGTGGATGAATACATGGATGGGTGGGTGGA TGGATGGATGGAAGGATAGATAGGTGGGTGGATGGATGGGTGGGTGGGTG GGTGGATGGATGGGTGGGTGGGTGGATGGATGGATGGGTGGGTGGATGGA TGGGTGGGTGGGTAGATGGGTGGATGGATAGATGGATGGGTGGGGGGGAT AAGTGGTTGGATGGTTAGACGGATGGATGGATGGATGAATAGATAGGTGG GTGGATGGATGGGTGGGTGGATAGTGGATGGATGGATGGGTGGGTGGGTA GATGGGTAGATGGATGGATGGATGGGTGGGTGGATGGATGGTAGATGGAT GGATGGGTGGGTGGATACA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02109.hp1 HG02922.hp1 others(2): Show HG01255.hp2 HG02109.hp1 HG02922.hp1 HG03579.hp2 NA20129.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0098 a0002c0005t0002g0099 a0002c0005t0002g0100 others(2): Show a0002c0005t0002g0098 a0002c0005t0002g0099 a0002c0005t0002g0100 a0002c0005t0002g0101 a0002c0005t0002g0102	5	126	0.0397	618	c.245 others(637): Show c.2455+3194_2455+3195insTGTATCCACCCACCCATCCATCCATC TACCATCCATCCACCCACCCATCCATCCATCCATCTACCCATCTACCCAC CCACCCATCCATCCATCCACTATCCACCCACCCATCCATCCACCCACCTA TCTATTCATCCATCCATCCATCCGTCTAACCATCCAACCACTTATCCCCC CCACCCATCCATCTATCCATCCACCCATCTACCCACCCACCCATCCATCC ACCCACCCATCCATCCATCCACCCACCCACCCATCCATCCACCCACCCAC CCACCCATCCATCCACCCACCTATCTATCCTTCCATCCATCCATCCACCC ACCCATCCATGTATTCATCCACCCGTCCATCTGTCCACCCACCCAACCAT CCATCCATCTACCCATCCACCCACCCATTCATCTATCTGCCCACCCATCC ATCTATCCATCTACCCACCCACCCATCCATCCATCCATCTACCATTCACC CACCCATCCATCCACCCACCTATCTATCCATCCATCCACCCACCCATTCA TCATTTCACCCACCCACGCATCCATGTATCCATCCACCCATCCATCCACC CACCCACCCAACCATCCATCCATCCATCTACCCATCCACCCA	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding	15/18			chr17	TogoVar
CCDC57_chr17_82096470_82217842	82148365	G G	GTGGGTGG others(611): Show GTGGGTGGATGGGTAGATGGATGGATGGATGGTTGGGTGGGTGGGTGGAT GGATGGGTGGATGGATACATGGATGCGTGGGTGGGTGAAATGATGAATGG GTGGGTGGATGGATGGATAGATAGGTGGGTGGATGGATGGGTGGGTGAAT GGTAGATGGATGGATGGATGGGTGGGTGGGTAGATGGATAGATGGATGGG TGGGCAGATAGATGAATGGGTGGGTGGATGGGTAGATGGATGGATGGTTG GGTGGGTGGACAGATGGACGGGTGGATGAATACATGGATGGGTGGGTGGA TGGATGGATGGAAGGATAGATAGGTGGGTGGATGGATGGGTGGGTGGGTG GGTGGATGGATGGGTGGGTGGGTGGATGGATGGGTGGGTGGGTGGATGGA TGGGTGGGTGGGTAGATGGGTGGATGGATAGATGGATGGGTGGGGGGGAT AAGTGGTTGGATGGTTAGACGGATGGATGGATGGATGAATAGATAGGTGG GTGGATGGATGGGTGGGTGGATAGTGGATGGATGGATGGGTGGGTGGGTA GATGGGTAGATGGATGGATGGATGGGTGGGTGGATGGATGGTAGATGGAT GGATGGGTGAGTGGATACA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01891.hp2 HG02895.hp2 others(2): Show HG01261.hp2 HG01891.hp2 HG02895.hp2 HG03579.hp1 HG06807.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0004 a0002c0003t0001g0005 a0002c0003t0001g0006 others(2): Show a0002c0003t0001g0004 a0002c0003t0001g0005 a0002c0003t0001g0006 a0002c0003t0001g0007 a0002c0003t0001g0008	5	126	0.0397	618	c.245 others(637): Show c.2455+3194_2455+3195insTGTATCCACTCACCCATCCATCCATC TACCATCCATCCACCCACCCATCCATCCATCCATCTACCCATCTACCCAC CCACCCATCCATCCATCCACTATCCACCCACCCATCCATCCACCCACCTA TCTATTCATCCATCCATCCATCCGTCTAACCATCCAACCACTTATCCCCC CCACCCATCCATCTATCCATCCACCCATCTACCCACCCACCCATCCATCC ACCCACCCACCCATCCATCCACCCACCCACCCATCCATCCACCCACCCAC CCACCCATCCATCCACCCACCTATCTATCCTTCCATCCATCCATCCACCC ACCCATCCATGTATTCATCCACCCGTCCATCTGTCCACCCACCCAACCAT CCATCCATCTACCCATCCACCCACCCATTCATCTATCTGCCCACCCATCC ATCTATCCATCTACCCACCCACCCATCCATCCATCCATCTACCATTCACC CACCCATCCATCCACCCACCTATCTATCCATCCATCCACCCACCCATTCA TCATTTCACCCACCCACGCATCCATGTATCCATCCACCCATCCATCCACC CACCCACCCAACCATCCATCCATCCATCTACCCATCCACCCA	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding	15/18			chr17	TogoVar
CCDC57_chr17_82096470_82217842	82148365	G G	GTGGGTGG others(611): Show GTGGGTGGATGGGTAGATGGATGGATGGATGGTTGGGTGGGTGGGTGGAT GGATGGGTGGATGGATACATGGATGCGTGGGTGGGTGAAATGATGAATGG GTGGGTGGATGGATGGATAGATAGGTGGGTGGATGGATGGGTGGGTGAAT GGTAGATGGATGGATGGATGGGTGGGTGGGTAGATGGATAGATGGATGGG TGGGCAGATAGATGAATGGGTGGGTGGATGGGTAGATGGATGGATGGTTG GGTGGGTGGACAGATGGACGGGTGGATGAATACATGGATGGGTGGGTGGA TGGATGGATGGAAGGATAGATAGGTGGGTGGATGGATGGGTGGGTGGGTG GGTGGATGGATGGGTGGGTGGGTGGATGGATGGGTGGGTGGGTGGATGGA TGGGTGGGTGGGTAGATGGGTGGATGGATAGATGGATGGGTGGGGGGGAT AAGTGGTTGGATGGTTAGACGGATGGATGGATGGATGAATAGATAGGTGG GTGGATGGATGGGTGGGTGGATAGTGGATGGATGGATGGGTGGGTGGGTA GATGGGTAGATGGATGGATGGATGGGTGGGTGGATGGATGGTAGATGGAT GGATGGGTGGGTGGATACA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00558.hp2 others(32): Show HG00140.hp2 HG00280.hp1 HG00558.hp2 HG00642.hp1 HG01192.hp1 HG01256.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG02129.hp2 HG02132.hp1 HG02145.hp1 HG02486.hp2 HG02622.hp2 HG02809.hp2 HG02818.hp2 HG02896.hp1 HG02897.hp2 HG03492.hp2 HG03710.hp1 HG03834.hp2 HG04228.hp1 NA18747.hp1 NA18906.hp2 NA18959.hp1 NA18964.hp1 NA18980.hp2 NA18982.hp2 NA19002.hp2 NA19010.hp2 NA19070.hp1 NA20752.hp2 NA20805.hp2	a0002 a0009 a0019 others(1): Show a0002 a0009 a0019 a0022	a0002c0003 a0002c0005 a0002c0006 others(4): Show a0002c0003 a0002c0005 a0002c0006 a0002c0009 a0009c0013 a0019c0019 a0022c0032	a0002c0003t0002 a0002c0005t0002 a0002c0006t0002 others(5): Show a0002c0003t0002 a0002c0005t0002 a0002c0006t0002 a0002c0009t0002 a0002c0009t0005 a0009c0013t0002 a0019c0019t0001 a0022c0032t0002	a0002c0003t0002g0001 a0002c0003t0002g0035 a0002c0003t0002g0039 others(31): Show a0002c0003t0002g0001 a0002c0003t0002g0035 a0002c0003t0002g0039 a0002c0003t0002g0040 a0002c0003t0002g0041 a0002c0003t0002g0044 a0002c0003t0002g0045 a0002c0003t0002g0046 a0002c0003t0002g0047 a0002c0003t0002g0050 a0002c0003t0002g0051 a0002c0003t0002g0053 a0002c0003t0002g0056 a0002c0003t0002g0060 a0002c0003t0002g0062 a0002c0003t0002g0063 a0002c0005t0002g0247 a0002c0005t0002g0248 a0002c0005t0002g0249 a0002c0006t0002g0034 a0002c0006t0002g0043 a0002c0006t0002g0048 a0002c0006t0002g0049 a0002c0006t0002g0052 a0002c0006t0002g0054 a0002c0006t0002g0061 a0002c0009t0002g0020 a0002c0009t0002g0021 a0002c0009t0005g0019 a0009c0013t0002g0057 a0009c0013t0002g0058 a0009c0013t0002g0059 a0019c0019t0001g0017 a0022c0032t0002g0055	35	156	0.2244	618	c.245 others(637): Show c.2455+3194_2455+3195insTGTATCCACCCACCCATCCATCCATC TACCATCCATCCACCCACCCATCCATCCATCCATCTACCCATCTACCCAC CCACCCATCCATCCATCCACTATCCACCCACCCATCCATCCACCCACCTA TCTATTCATCCATCCATCCATCCGTCTAACCATCCAACCACTTATCCCCC CCACCCATCCATCTATCCATCCACCCATCTACCCACCCACCCATCCATCC ACCCACCCACCCATCCATCCACCCACCCACCCATCCATCCACCCACCCAC CCACCCATCCATCCACCCACCTATCTATCCTTCCATCCATCCATCCACCC ACCCATCCATGTATTCATCCACCCGTCCATCTGTCCACCCACCCAACCAT CCATCCATCTACCCATCCACCCACCCATTCATCTATCTGCCCACCCATCC ATCTATCCATCTACCCACCCACCCATCCATCCATCCATCTACCATTCACC CACCCATCCATCCACCCACCTATCTATCCATCCATCCACCCACCCATTCA TCATTTCACCCACCCACGCATCCATGTATCCATCCACCCATCCATCCACC CACCCACCCAACCATCCATCCATCCATCTACCCATCCACCCA	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding	15/18			chr17	TogoVar
CCDC88C_chr14_91266323_91422820	91293493	T T	TCCTCACC others(611): Show TCCTCACCCGCCACAGCTCACTTTCCCATCCTCACGTGCCACAGCTCACC TTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCAGAG CTCACCTTCCCATCCTCACGTGCCACAGCTCACCTTCCCATCCTCACCCG CCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCT CACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCC CATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCA CCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCAC AGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACC CGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATC CTCACCTGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTT CCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCTGCCACAGCT CACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCTGCC ACAGCCCACCTTCCTGTCC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	205	0.0049	618	c.411 others(635): Show c.4112+679_4112+680insGGACAGGAAGGTGGGCTGTGGCAGGTGA GGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGC AGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGC TGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCAGGTGAGGATGGGAAG GTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGAT GGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGT GAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTG GCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGA GCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGA AGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGG ATGGGAAGGTGAGCTGTGGCACGTGAGGATGGGAAGGTGAGCTCTGGCGG GTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTG TGGCACGTGAGGATGGGAAAGTGAGCTGTGGCGGGTGAGG	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar

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