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
NFIB_chr9_14076848_14319141	14205256	G G	GGGGAAGG others(280): Show GGGGAAGGAAGGAAGGAGGGAGGGAGGGAGGGAGGAAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGGAGGAAATGAAGGGAGGGA AAGGAGGGTGAGAGGGAGGGAGGGAAGGAAGGGAGGGAGGGAGGGGAGGA AATGAAGGGAGGAAAAGGAGAAAATGAAAGGAAGGGAAGGGAAGGAAGGG AGAGAGGAAGGGAGGGAGGAAAGGAAGGAGAGGAGGGAGGGAAAGCAGGG AAGGAAGGAAGAAAGGGAGGGAGAGAGGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0026 a0001c0001t0041g0026	1	32	0.0313	287	c.563 others(306): Show c.563-25477_563-25476insTCCCTCCCTCCCTCTCTCCCTCCCTT TCTTCCTTCCTTCCCTGCTTTCCCTCCCTCCTCTCCTTCCTTTCCTCCCT CCCTTCCTCTCTCCCTTCCTTCCCTTCCCTTCCTTTCATTTTCTCCTTTT CCTCCCTTCATTTCCTCCCCTCCCTCCCTCCCTTCCTTCCCTCCCTCCCT CTCACCCTCCTTTCCCTCCCTTCATTTCCTCCCTTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTTCCTCCCTCCCTCCCTCCCTCCTT CCTTCCTTCCC	NFIB	ENSG00000147862.18	transcript	ENST00000380953.6	protein_coding	2/10			chr9	TogoVar
NFIB_chr9_14076848_14319141	14205256	G G	GGGGAAGG others(280): Show GGGGAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAAGGGAGGAAATGAAGGGAGGGAAAGGAGGG TGAGAGGGAGGGAGGGAAGGAAGGGAGGGAGGGAGGGGAGGAAATGAAGG GAGGAAAAGGAGAAAATGAAAGGAAGGGAAGGGAAGGAAGGGAGAGAGGA AGGGAGGGAGGAAAGGAAGGAGAGGAGGGAGGGAAAGCAGGGAAGGAAGG AAGAAAGGGAGGGAGAGAGGGAGGGAGGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG02300.hp2 NA19005.hp2 HG02300.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0032 a0001c0001t0001 a0001c0001t0032	a0001c0001t0001g0128 a0001c0001t0032g0275 a0001c0001t0001g0128 a0001c0001t0032g0275	2	33	0.0606	287	c.563 others(306): Show c.563-25477_563-25476insTCCCTCCCTCCCTCCCTCCCTCTCTC CCTCCCTTTCTTCCTTCCTTCCCTGCTTTCCCTCCCTCCTCTCCTTCCTT TCCTCCCTCCCTTCCTCTCTCCCTTCCTTCCCTTCCCTTCCTTTCATTTT CTCCTTTTCCTCCCTTCATTTCCTCCCCTCCCTCCCTCCCTTCCTTCCCT CCCTCCCTCTCACCCTCCTTTCCCTCCCTTCATTTCCTCCCTTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCCTCCCTCCCTCCCT CCTTCCTTCCC	NFIB	ENSG00000147862.18	transcript	ENST00000380953.6	protein_coding	2/10			chr9	TogoVar
NFIB_chr9_14076848_14319141	14205256	G G	GGGGAAGG others(280): Show GGGGAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAAGGGAGGAAATGAAGGGAGGGAAAGG AGGGTGAGAGGGAGGGAGGGAAGGAAGGGAGGGAGGGAGGGGAGGAAATG AAGGGAGGAAAAGGAGAAAATGAAAGGAAGGGAAGGGAAGGAAGGGAGAG AGGAAGGGAGGGAGGAAAGGAAGGAGAGGAGGGAGGGAAAGCAGGGAAGG AAGGAAGAAAGGGAGGGAGAGAGGGAGGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG01884.hp2 others(11): Show HG00423.hp1 HG00423.hp2 HG01884.hp2 HG01934.hp1 HG02257.hp1 HG02615.hp1 NA18522.hp2 NA18944.hp1 NA18971.hp1 NA18983.hp2 NA19001.hp1 NA19066.hp1 NA19074.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 a0001c0001t0021 a0001c0001t0028 a0001c0001t0034 a0001c0001t0073 a0001c0001t0109	a0001c0001t0001g0186 a0001c0001t0001g0239 a0001c0001t0001g0241 others(11): Show a0001c0001t0001g0186 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0002g0184 a0001c0001t0003g0067 a0001c0001t0004g0291 a0001c0001t0005g0144 a0001c0001t0006g0039 a0001c0001t0011g0208 a0001c0001t0021g0249 a0001c0001t0028g0046 a0001c0001t0034g0157 a0001c0001t0073g0161 a0001c0001t0109g0172	14	45	0.3111	287	c.563 others(306): Show c.563-25477_563-25476insTCCCTCCCTCCCTCCCTCTCTCCCTC CCTTTCTTCCTTCCTTCCCTGCTTTCCCTCCCTCCTCTCCTTCCTTTCCT CCCTCCCTTCCTCTCTCCCTTCCTTCCCTTCCCTTCCTTTCATTTTCTCC TTTTCCTCCCTTCATTTCCTCCCCTCCCTCCCTCCCTTCCTTCCCTCCCT CCCTCTCACCCTCCTTTCCCTCCCTTCATTTCCTCCCTTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCCTCCCTCCCTCCCT CCTTCCTTCCC	NFIB	ENSG00000147862.18	transcript	ENST00000380953.6	protein_coding	2/10			chr9	TogoVar
NFIB_chr9_14076848_14319141	14205256	G G	GGGGAAGG others(280): Show GGGGAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGGAGGAAATGAAGGGAGGGA AAGGAGGGTGAGAGGGAGGGAGGGAAGGAAGGGAGGGAGGGAGGGGAGGA AATGAAGGGAGGAAAAGGAGAAAATGAAAGGAAGGGAAGGGAAGGAAGGG AGAGAGGAAGGGAGGGAGGAAAGGAAGGAGAGGAGGGAGGGAAAGCAGGG AAGGAAGGAAGAAAGGGAGGGAGAGAGGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG02132.hp2 HG02886.hp2 others(3): Show HG01928.hp1 HG02132.hp2 HG02886.hp2 HG03098.hp2 NA18975.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0016 others(2): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0016 a0001c0001t0047 a0001c0001t0082	a0001c0001t0004g0167 a0001c0001t0004g0194 a0001c0001t0005g0106 others(3): Show a0001c0001t0004g0167 a0001c0001t0004g0194 a0001c0001t0005g0106 a0001c0001t0016g0212 a0001c0001t0047g0040 a0001c0001t0082g0105	6	37	0.1622	287	c.563 others(306): Show c.563-25477_563-25476insTCCCTCCCTCCCTCTCTCCCTCCCTT TCTTCCTTCCTTCCCTGCTTTCCCTCCCTCCTCTCCTTCCTTTCCTCCCT CCCTTCCTCTCTCCCTTCCTTCCCTTCCCTTCCTTTCATTTTCTCCTTTT CCTCCCTTCATTTCCTCCCCTCCCTCCCTCCCTTCCTTCCCTCCCTCCCT CTCACCCTCCTTTCCCTCCCTTCATTTCCTCCCTTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCCTCCCTCCCTCCCT CCTTCCTTCCC	NFIB	ENSG00000147862.18	transcript	ENST00000380953.6	protein_coding	2/10			chr9	TogoVar
NFIB_chr9_14076848_14319141	14205256	G G	GGGGAAGG others(280): Show GGGGAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGGAGGAAATGAAGGGA GGGAAAGGAGGGTGAGAGGGAGGGAGGGAAGGAAGGGAGGGAGGGAGGGG AGGAAATGAAGGGAGGAAAAGGAGAAAATGAAAGGAAGGGAAGGGAAGGA AGGGAGAGAGGAAGGGAGGGAGGAAAGGAAGGAGAGGAGGGAGGGAAAGC AGGGAAGGAAGGAAGAAAGGGAGGGAGAGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02698.hp1 HG00597.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0112 a0001c0001t0001 a0001c0001t0112	a0001c0001t0001g0250 a0001c0001t0112g0132 a0001c0001t0001g0250 a0001c0001t0112g0132	2	33	0.0606	287	c.563 others(306): Show c.563-25477_563-25476insTCCCTCCCTCTCTCCCTCCCTTTCTT CCTTCCTTCCCTGCTTTCCCTCCCTCCTCTCCTTCCTTTCCTCCCTCCCT TCCTCTCTCCCTTCCTTCCCTTCCCTTCCTTTCATTTTCTCCTTTTCCTC CCTTCATTTCCTCCCCTCCCTCCCTCCCTTCCTTCCCTCCCTCCCTCTCA CCCTCCTTTCCCTCCCTTCATTTCCTCCCTTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCCTCCCTCCCTCCCT CCTTCCTTCCC	NFIB	ENSG00000147862.18	transcript	ENST00000380953.6	protein_coding	2/10			chr9	TogoVar
NFIB_chr9_14076848_14319141	14205256	G G	GGGGAAGG others(280): Show GGGGAAGGAAGGAGGGAGGGAGGGAGGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGGAGGAAATGAAGGGAGGGA AAGGAGGGTGAGAGGGAGGGAGGGAAGGAAGGGAGGGAGGGAGGGGAGGA AATGAAGGGAGGAAAAGGAGAAAATGAAAGGAAGGGAAGGGAAGGAAGGG AGAGAGGAAGGGAGGGAGGAAAGGAAGGAGAGGAGGGAGGGAAAGCAGGG AAGGAAGGAAGAAAGGGAGGGAGAGAGGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02818.hp2 HG03098.hp1 others(3): Show HG02486.hp1 HG02818.hp2 HG03098.hp1 HG03453.hp2 NA19043.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0011 others(2): Show a0001c0001t0003 a0001c0001t0009 a0001c0001t0011 a0001c0001t0030 a0001c0001t0071	a0001c0001t0003g0013 a0001c0001t0003g0066 a0001c0001t0009g0074 others(3): Show a0001c0001t0003g0013 a0001c0001t0003g0066 a0001c0001t0009g0074 a0001c0001t0011g0209 a0001c0001t0030g0175 a0001c0001t0071g0219	6	37	0.1622	287	c.563 others(306): Show c.563-25477_563-25476insTCCCTCCCTCCCTCTCTCCCTCCCTT TCTTCCTTCCTTCCCTGCTTTCCCTCCCTCCTCTCCTTCCTTTCCTCCCT CCCTTCCTCTCTCCCTTCCTTCCCTTCCCTTCCTTTCATTTTCTCCTTTT CCTCCCTTCATTTCCTCCCCTCCCTCCCTCCCTTCCTTCCCTCCCTCCCT CTCACCCTCCTTTCCCTCCCTTCATTTCCTCCCTTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCT CCTTCCTTCCC	NFIB	ENSG00000147862.18	transcript	ENST00000380953.6	protein_coding	2/10			chr9	TogoVar
NFIB_chr9_14076848_14319141	14205256	G G	GGGGAAGG others(280): Show GGGGAAGGAAGGAGGGAGGGAGGGAGGGACGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGGAGGAAATGAAGGGAGGGA AAGGAGGGTGAGAGGGAGGGAGGGAAGGAAGGGAGGGAGGGAGGGGAGGA AATGAAGGGAGGAAAAGGAGAAAATGAAAGGAAGGGAAGGGAAGGAAGGG AGAGAGGAAGGGAGGGAGGAAAGGAAGGAGAGGAGGGAGGGAAAGCAGGG AAGGAAGGAAGAAAGGGAGGGAGAGAGGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	32	0.0313	287	c.563 others(306): Show c.563-25477_563-25476insTCCCTCCCTCCCTCTCTCCCTCCCTT TCTTCCTTCCTTCCCTGCTTTCCCTCCCTCCTCTCCTTCCTTTCCTCCCT CCCTTCCTCTCTCCCTTCCTTCCCTTCCCTTCCTTTCATTTTCTCCTTTT CCTCCCTTCATTTCCTCCCCTCCCTCCCTCCCTTCCTTCCCTCCCTCCCT CTCACCCTCCTTTCCCTCCCTTCATTTCCTCCCTTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCGTCCCTCCCTCCCTCCCT CCTTCCTTCCC	NFIB	ENSG00000147862.18	transcript	ENST00000380953.6	protein_coding	2/10			chr9	TogoVar
NFIB_chr9_14076848_14319141	14205256	G G	GGGGAAGG others(280): Show GGGGAAGGAAGGAGGGAGGGAGGGAGGGACGGAGGAAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGGAGGAAATGAAGGGA GGGAAAGGAGGGTGAGAGGGAGGGAGGGAAGGAAGGGAGGGAGGGAGGGG AGGAAATGAAGGGAGGAAAAGGAGAAAATGAAAGGAAGGGAAGGGAAGGA AGGGAGAGAGGAAGGGAGGGAGGAAAGGAAGGAGAGGAGGGAGGGAAAGC AGGGAAGGAAGGAAGAAAGGGAGGGAGAGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01361.hp1 HG01981.hp1 others(5): Show HG00642.hp2 HG01361.hp1 HG01981.hp1 HG02004.hp2 HG02129.hp2 HG02300.hp1 HG03540.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0015	a0001c0001t0002g0112 a0001c0001t0002g0192 a0001c0001t0002g0247 others(5): Show a0001c0001t0002g0112 a0001c0001t0002g0192 a0001c0001t0002g0247 a0001c0001t0002g0263 a0001c0001t0002g0266 a0001c0001t0003g0033 a0001c0001t0011g0215 a0001c0001t0015g0162	8	39	0.2051	287	c.563 others(306): Show c.563-25477_563-25476insTCCCTCCCTCTCTCCCTCCCTTTCTT CCTTCCTTCCCTGCTTTCCCTCCCTCCTCTCCTTCCTTTCCTCCCTCCCT TCCTCTCTCCCTTCCTTCCCTTCCCTTCCTTTCATTTTCTCCTTTTCCTC CCTTCATTTCCTCCCCTCCCTCCCTCCCTTCCTTCCCTCCCTCCCTCTCA CCCTCCTTTCCCTCCCTTCATTTCCTCCCTTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTTCCTCCGTCCCTCCCTCCCTCCCT CCTTCCTTCCC	NFIB	ENSG00000147862.18	transcript	ENST00000380953.6	protein_coding	2/10			chr9	TogoVar
NKD2_chr5_1003802_1043943	1025618	T T	TCTGTGGG others(280): Show TCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCACCCGCTGTGGGC GTCCCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCC CATTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCATTGTCCC TGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCC CACCCTCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCACTCTCTG TGGGCGTCCCAGCCCATTGTCCCTGCTCTTCCCACCCG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0010 a0005c0009t0010	a0005c0009t0010g0110 a0005c0009t0010g0110	1	267	0.0037	287	c.142 others(304): Show c.142-6523_142-6522insTCAGCCCATTGTCCCTGCTCTTCCCACC CGCTGTGGGCGTCCCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGG CGTCTCAGCCCATTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGC CCATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCATTGTCC CTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTC CCACTCTCTGTGGGCGTCCCAGCCCATTGTCCCTGCTCTTCCCACCCGCT GTGGGCGTC	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NLRP8_chr19_55942832_55993629	55993551	C C	CCCCTCCC others(280): Show CCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCTCCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTC CCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCC CCCTCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0005 a0005	a0005c0014 a0005c0014	a0005c0014t0014 a0005c0014t0014	a0005c0014t0014g0171 a0005c0014t0014g0171	1	275	0.0036	287	c.56 others(298): Show c.5638_*5639insCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCC CCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCC CCT	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4923		chr19	TogoVar
OPRM1_chr6_154034240_154137356	154100218	C C	CATATATC others(280): Show CATATATCATAATATATATTATCATATTATGACATATATCATAATATATA TTATCATATTATGACATATATCATAATATATATTATCATATTATGACATA TATCATAATATATATTATCATATTATGACATATATCATAATATATATTAT CATATTATGACATATATCATAATATATATTATCATATTATGACATATATC ATAATATATATTATATTATGACATATATCATAATATATATTATCATATTA TGACATATATCATAATATATATTATCATATTATGACAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0164 a0002c0002t0001g0164	1	58	0.0172	287	c.116 others(306): Show c.1164+8750_1164+8751insATCATAATATATATTATCATATTATG ACATATATCATAATATATATTATCATATTATGACATATATCATAATATAT ATTATCATATTATGACATATATCATAATATATATTATCATATTATGACAT ATATCATAATATATATTATCATATTATGACATATATCATAATATATATTA TCATATTATGACATATATCATAATATATATTATATTATGACATATATCAT AATATATATTATCATATTATGACATATATCATAATATATATTATCATATT ATGACATATAT	OPRM1	ENSG00000112038.18	transcript	ENST00000330432.12	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
OTOF_chr2_26452203_26483124	26476523	C C	CCCCTTCC others(280): Show CCCCTTCCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCACCC CTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCT TCCCCCACCTCCTTCCCCACCCCTTCCCCCACCCCTTCCCCCACCCCTTC CCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCCCTTCCC CCACCTCCTTCCCCACCCCTTCCCCCACGTCCTTCCCCACCCCTTCCCCC ACCTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCAG	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18986.hp2 NA18970.hp1 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	2	261	0.0077	287	c.436 others(302): Show c.436-207_436-206insCTGGGGAAGGAGGTGGGGGAAGGGGTGGGG AAGGAGGTGGGGGAAGGGGTGGGGAAGGACGTGGGGGAAGGGGTGGGGAA GGAGGTGGGGGAAGGGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAG GGGTGGGGGAAGGGGTGGGGGAAGGGGTGGGGGAAGGGGTGGGGAAGGAG GTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGT GGGGGAAGGGGTGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGG GGAAGGG	OTOF	ENSG00000115155.19	transcript	ENST00000339598.8	protein_coding	5/28			chr2	TogoVar
OTOF_chr2_26452203_26483124	26476523	C C	CCCCTTCC others(280): Show CCCCTTCCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCACCC CTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCT TCCCCCACCTCCTTCCCCACCCCTTCCCCCACCCCTTCCCCCACCCCTTC CCCCACCTCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCCCTTCCC CCACCTCCTTCCCCACCCCTTCCCCCACGTCCTTCCCCACCCCTTCCCCC ACCTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCAG	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	260	0.0038	287	c.436 others(302): Show c.436-207_436-206insCTGGGGAAGGAGGTGGGGGAAGGGGTGGGG AAGGAGGTGGGGGAAGGGGTGGGGAAGGACGTGGGGGAAGGGGTGGGGAA GGAGGTGGGGGAAGGGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAG AGGTGGGGGAAGGGGTGGGGGAAGGGGTGGGGGAAGGGGTGGGGAAGGAG GTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGT GGGGGAAGGGGTGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGG GGAAGGG	OTOF	ENSG00000115155.19	transcript	ENST00000339598.8	protein_coding	5/28			chr2	TogoVar
PALD1_chr10_70473767_70573450	70554970	T T	TCCCCCAC others(280): Show TCCCCCACTCCCTCCCCACCCCTCCCCCTCCCTCCCCCTCCCCTCCCCTC CTCCCCCCCTCCCTCCCCCTCCTCCCCCTCCCCTCCCCCTCCTCCCCTTC CTCCCCTCCCCCCTCCTCCCCTTCCTCCCCTCCCCCTCCTCCCCCCTCCT CCCCCCTCCTCCCCCCCTCCCCTCCCCCGTCCCCTCCACTCCCCTTTCCC CTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTC CCCTCCTCCCCTCCCCTCCCCTCTTCCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0004 a0001c0007t0004	a0001c0007t0004g0308 a0001c0007t0004g0308	1	68	0.0147	287	c.226 others(306): Show c.2262+7526_2262+7527insCCCACTCCCTCCCCACCCCTCCCCCT CCCTCCCCCTCCCCTCCCCTCCTCCCCCCCTCCCTCCCCCTCCTCCCCCT CCCCTCCCCCTCCTCCCCTTCCTCCCCTCCCCCCTCCTCCCCTTCCTCCC CTCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCTCCCCTCCCCCG TCCCCTCCACTCCCCTTTCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTC CACTCCCCTTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCTTCCCC CTCCCCTCCCC	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PARP10_chr8_143972158_143991460	143981712	A A	ATGGTGAT others(280): Show ATGGTGATGATGATGAGTGGGGATGATGGTGGTGATGGTGACTGTTGTGA TGGTGATGGTGGTGATGGTGATGGTGGTGGTGATGACAGTGAGTGGTGAG GGTCATGGTGATGGTGATGATGATGATGAGTGGGGATGATTATGGTGATG GTGGTGGTGATGGTGATTGTTGTGATGGTGATGGTGGTGATGACAGTGAG TGGTGAGGGTCATGGTGATGGTGATGGTGATGATGATGAGTGGGGATGAT TATGGTGATGGTGGTGGTGATGGTGATTGTTGTGATGG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	357	0.0028	287	c.255 others(306): Show c.2556+1219_2556+1220insCCATCACAACAATCACCATCACCACC ACCATCACCATAATCATCCCCACTCATCATCATCACCATCACCATCACCA TGACCCTCACCACTCACTGTCATCACCACCATCACCATCACAACAATCAC CATCACCACCACCATCACCATAATCATCCCCACTCATCATCATCATCACC ATCACCATGACCCTCACCACTCACTGTCATCACCACCACCATCACCATCA CCACCATCACCATCACAACAGTCACCATCACCACCATCATCCCCACTCAT CATCATCACCA	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar
PARP10_chr8_143972158_143991460	143981752	A A	ATGGTGAT others(280): Show ATGGTGATGATGATGAGTGGGGATGATGGTGGTGATGGTGACTGTTGTGA TGGTGATGGTGGTGATGGTGATGGTGGTGGTGATGACAGTGAGTGGTGAG GGTCATGGTGATGGTGATGATGATGATGAGTGGGGATGATTATGGTGATG GTGGTGGTGATGGTGATTGTTGTGATGGTGATGGTGGTGATGACAGTGAG TGGTGAGGGTCATGGTGATGGTGATGGTGATGATGATGAGTGGGGATGAT TATGGTGATGGTGGTGGTGATGGTGATTGTTGTGATGG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01975.hp1 HG00597.hp2 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0155 a0001c0001t0001g0156	2	377	0.0053	287	c.255 others(306): Show c.2556+1179_2556+1180insCCATCACAACAATCACCATCACCACC ACCATCACCATAATCATCCCCACTCATCATCATCACCATCACCATCACCA TGACCCTCACCACTCACTGTCATCACCACCATCACCATCACAACAATCAC CATCACCACCACCATCACCATAATCATCCCCACTCATCATCATCATCACC ATCACCATGACCCTCACCACTCACTGTCATCACCACCACCATCACCATCA CCACCATCACCATCACAACAGTCACCATCACCACCATCATCCCCACTCAT CATCATCACCA	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar
PCSK6_chr15_101298933_101494707	101493369	T T	TTCCCTCC others(280): Show TTCCCTCCCCTCTCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTC CCCCTCCCCTGCCCTCCCCCTCCCTTCCCCTGCCCTCCCCCTCCCCCTCC CCTCCCCACTTCCCCTCCCCCTCCCCTGCCCTCCTCCTCCCCCTCCCTCA TCCCCTCCCCACTCCCCCTCCCCCTCCCCTGCCCTCCCCCTCCCCTCCCC CTCCCCCTCCCTCATCCCCTCCCCACTCCCCCTCCCCCTCCCCTGCCCTC CCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00639.hp1 HG01069.hp2 others(8): Show HG00323.hp2 HG00639.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01099.hp2 HG01109.hp2 HG01257.hp1 HG03942.hp1 HG04199.hp2 NA20752.hp2	a0001 a0004 a0009 a0001 a0004 a0009	a0001c0001 a0001c0002 a0001c0009 others(4): Show a0001c0001 a0001c0002 a0001c0009 a0001c0011 a0001c0061 a0004c0068 a0009c0055	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0009t0001 a0001c0011t0001 a0001c0061t0001 a0004c0068t0001 a0009c0055t0001	a0001c0001t0001g0236 a0001c0001t0002g0228 a0001c0001t0002g0237 others(8): Show a0001c0001t0001g0236 a0001c0001t0002g0228 a0001c0001t0002g0237 a0001c0002t0002g0229 a0001c0002t0002g0235 a0001c0009t0001g0232 a0001c0011t0001g0230 a0001c0011t0001g0238 a0001c0061t0001g0309 a0004c0068t0001g0326 a0009c0055t0001g0153	11	17	0.6471	287	c.-37 others(298): Show c.-3700_-3699insGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGA GGGGGAGGGCAGGGGAGGGGGAGGGGGAGTGGGGAGGGGATGAGGGAGGG GGAGGGGGAGGGGAGGGGGAGGGCAGGGGAGGGGGAGGGGGAGTGGGGAG GGGATGAGGGAGGGGGAGGAGGAGGGCAGGGGAGGGGGAGGGGAAGTGGG GAGGGGAGGGGGAGGGGGAGGGCAGGGGAAGGGAGGGGGAGGGCAGGGGA GGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGAGAGGGGAG GGA	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding		3663		chr15	TogoVar
PDPK1_chr16_2533021_2608188	2551667	T T	TTTTTTTG others(280): Show TTTTTTTGAGACGGAGTCTTGCTGTGTCGCCCAGGCTGGAGTGCAGTGGC GCAATCTCGACTCACTGCAAGCTCCACCTCCCAGGTTCACACCATTCTCC TACCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGTCC AGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCA GGATGGTCTTGATCTCCTGACCTTGTGATCCACCTGCCTCAGCCTCCCAA AGTCCTGGGATTTCAGGCATGAGCCACAGCACCCGGCC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01943.hp2 NA19065.hp2 HG01261.hp1 HG01943.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0111 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0111	3	182	0.0165	287	c.25- others(302): Show c.25-6030_25-6029insGAGACGGAGTCTTGCTGTGTCGCCCAGGCT GGAGTGCAGTGGCGCAATCTCGACTCACTGCAAGCTCCACCTCCCAGGTT CACACCATTCTCCTACCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACC CGCCACCACGTCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTC ACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTTGTGATCCACCTGC CTCAGCCTCCCAAAGTCCTGGGATTTCAGGCATGAGCCACAGCACCCGGC CTTTTTT	PDPK1	ENSG00000140992.19	transcript	ENST00000342085.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
PERM1_chr1_970198_987093	976875	C C	CCAACCCC others(280): Show CCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCC TCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAA CCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCC GCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCC GGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTC CCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0016 a0009c0013t0016	a0009c0013t0016g0181 a0009c0013t0016g0181	1	392	0.0026	287	c.215 others(304): Show c.2150-252_2150-251insCGGGGGGAGCGGGAGGCGGTTCCCGGGG TTGGTGGGGGGAGCGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGCGGGA GGCGGTTCCCGGGGTTGGTGGGGGGAGCGGGAGGCGGTTCCCGGGGTTGG TGGGGGGAGCGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGCGGGAGGCG GTTCCCGGGGTTGGTGGGGGGAGCGGGAGGCGGTTCCCGGGGTTGGTGGG GGGAGCGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGCGGGAGGCGGTTC CCGGGGTTG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PEX5_chr12_7184686_7216459	7203172	A A	AACTGGAC others(280): Show AACTGGACTGGACTGGACTGGACTGGACTAGACTAGACTAGACTAGACGA CTAGACTAGACTCTAGACTAGACACTAGACTAGACTAGACACTAGACTAG ACTAGACACTAGACTAGACTAGACACTAGACTAGACTAGACACGACTAGA CTATAGACTAGACACTAGACTAGACACTAGACTAGACTATAGACTAGACA CTAGACTAGACTATAGACTAGACACTAGACTAGACACTAGACTAGACTAT AGACTAGACACTAGACTAGACTATAGACTAGACTATAG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0215 a0001c0001t0008g0215	1	419	0.0024	287	c.847 others(302): Show c.847-257_847-256insGGACTGGACTGGACTGGACTGGACTAGACT AGACTAGACTAGACGACTAGACTAGACTCTAGACTAGACACTAGACTAGA CTAGACACTAGACTAGACTAGACACTAGACTAGACTAGACACTAGACTAG ACTAGACACGACTAGACTATAGACTAGACACTAGACTAGACACTAGACTA GACTATAGACTAGACACTAGACTAGACTATAGACTAGACACTAGACTAGA CACTAGACTAGACTATAGACTAGACACTAGACTAGACTATAGACTAGACT ATAGACT	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PKHD1L1_chr8_109357461_109542207	109358643	C C	CAAAAAAT others(280): Show CAAAAAATATTAAGGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGT CAGGAGATCGAGACCATCCTGGCTAACAAGGGGAAACCCCGTCTCTACTA AAAATACAAAAAATTAGCCGGGCACGGTGGCGGGCGCCTGTAGTCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCT TGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCTGGCCTGGGCGA CAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp2 HG02738.hp1 HG03491.hp2 others(2): Show HG02683.hp2 HG02738.hp1 HG03491.hp2 HG03831.hp2 HG03927.hp1	a0003 a0045 a0003 a0045	a0003c0003 a0045c0040 a0003c0003 a0045c0040	a0003c0003t0003 a0045c0040t0003 a0003c0003t0003 a0045c0040t0003	a0003c0003t0003g0152 a0003c0003t0003g0158 a0003c0003t0003g0161 others(2): Show a0003c0003t0003g0152 a0003c0003t0003g0158 a0003c0003t0003g0161 a0003c0003t0003g0163 a0045c0040t0003g0166	5	250	0.0200	287	c.-39 others(298): Show c.-3938_-3937insAAAAAATATTAAGGCACTTTGGGAGGCCGAGGCG GGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGGGAA ACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCACGGTGGCGGGC GCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAC CCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCA GTCTGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAA AAA	PKHD1L1	ENSG00000205038.12	transcript	ENST00000378402.10	protein_coding		3817		chr8	TogoVar
PLPP2_chr19_276043_296403	291551	A A	AGGGGAGG others(280): Show AGGGGAGGGAGGAGGGGGGGACGGCAGCGGCGGGCAGGGGAGCGGCGGGC GGGGCGGGGAGGGGAGGGCAGCAGGGGAGAGGGGAGGAGGGGAGGGGGCG GGGAGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGAGGGAGGGGGGACGGC AGCGGCGGGCAGGGGAGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGA GGAGGGGAGGAGGGGAAGGGAGGAGGGGGGGAGGGGAGGGGAGGAAGGCG GGGACGGCAGCGGCGGGCAGGGGAGCAGCGGGCGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0150 a0002c0002t0007g0150	1	277	0.0036	287	c.-21 others(296): Show c.-216_-215insGCCCCGCCCGCTGCTCCCCTGCCCGCCGCTGCCGTC CCCGCCTTCCTCCCCTCCCCTCCCCCCCTCCTCCCTTCCCCTCCTCCCCT CCTCCCCGCCCCGCCCGCCGCTCCCCTGCCCGCCGCTCCCCTGCCCGCCG CTGCCGTCCCCCCTCCCTCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCTC CCCGCCCCCTCCCCTCCTCCCCTCTCCCCTGCTGCCCTCCCCTCCCCGCC CCGCCCGCCGCTCCCCTGCCCGCCGCTGCCGTCCCCCCCTCCTCCCTCCC C	PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding		149		chr19	TogoVar
PLXNB2_chr22_50269979_50312646	50285652	A A	ACCGGCCG others(280): Show ACCGGCCGGCACCCCTCCCTCCGTACCTGAGCCTGCCTGTCACCGGCCGG CACCCCCTCTCCGCACCTGAGCCTGCCTGTCACCGGCCGGCACCCCTCCC TCCGTACCTGAGCCTGCCTGTCACCGGCCGGCACCCCTCCCTCCGTACCT GAGCCTGCCTGTCACCGGCCGGCACCCCTCCCTCCGCACCTTAGCCTGCC TGTCACCAACCGGCACCCCTCCCTCCGCACCTGAGCCTGCCTGTCACCGG CCGGCACCCCTCCCTCCGTACCTGAGCCTGCCTGTCAC	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0004 a0004	a0004c0021 a0004c0021	a0004c0021t0001 a0004c0021t0001	a0004c0021t0001g0269 a0004c0021t0001g0269	1	214	0.0047	287	c.208 others(304): Show c.2088+147_2088+148insGTGACAGGCAGGCTCAGGTACGGAGGGA GGGGTGCCGGCCGGTGACAGGCAGGCTCAGGTGCGGAGGGAGGGGTGCCG GTTGGTGACAGGCAGGCTAAGGTGCGGAGGGAGGGGTGCCGGCCGGTGAC AGGCAGGCTCAGGTACGGAGGGAGGGGTGCCGGCCGGTGACAGGCAGGCT CAGGTACGGAGGGAGGGGTGCCGGCCGGTGACAGGCAGGCTCAGGTGCGG AGAGGGGGTGCCGGCCGGTGACAGGCAGGCTCAGGTACGGAGGGAGGGGT GCCGGCCGG	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding	11/36			chr22	TogoVar
PNMA5_chrX_152983824_152999116	152998757	A A	ATATATTT others(280): Show ATATATTTATATAAAAATATATAATATATATTTATATAAAAATATATTAT ATATAATATAATTATTATATATAAAAATATATTTATATATATTATATTAT ATATAATATATTATATATATTATATTATATATAATATATTATATATATTA TATTATATATAATATATTATATATATTATATTATATATAATATATTATAT ATATTATATTATATATAATATATTATATATATTATATTATATATAATATA TTATATATATTATATTATATATAATATATTATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG06807.hp2 HG03516.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0001 a0001c0001t0001g0006	2	278	0.0072	287	c.-50 others(298): Show c.-5055_-5054insATATATATAATATATTATATATAATATAATATAT ATAATATATTATATATAATATAATATATATAATATATTATATATAATATA ATATATATAATATATTATATATAATATAATATATATAATATATTATATAT AATATAATATATATAATATATTATATATAATATAATATATATAATATATT ATATATAATATAATATATATAAATATATTTTTATATATAATAATTATATT ATATATAATATATTTTTATATAAATATATATTATATATTTTTATATAAAT ATA	PNMA5	ENSG00000198883.12	transcript	ENST00000535214.6	protein_coding		4642		chrX	TogoVar
PPM1E_chr17_58750854_58990179	58966535	A A	ACTGACGC others(280): Show ACTGACGCAGTTTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTCACATATTCTTCTTTGTTTTATTTATAATTTTTTT TTTTTACAATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTAT ACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATG TATACATGTGCCATGCTGGTGCACTGCACCCACTAATGTGTCATCTAGCA TTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCC	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0208 a0001c0001t0002g0208	1	310	0.0032	287	c.783 others(302): Show c.783+659_783+660insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTCACATATTCTTCTTTGTTTTATTTATAATTTTT TTTTTTTACAATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATT ATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATA TGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATGTGTCATCTAG CATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCTGACGCAGT TTATTTC	PPM1E	ENSG00000175175.6	transcript	ENST00000308249.4	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
PTPN2_chr18_12787152_12889237	12884832	T T	TAAGAAAA others(280): Show TAAGAAAACGTCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGT CAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTA AAAATACAAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGC CTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02451.hp1 NA19240.hp1 HG01891.hp2 HG02451.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0086 a0001c0001t0011g0083 a0001c0001t0011g0084 a0001c0001t0001g0086 a0001c0001t0011g0083 a0001c0001t0011g0084	3	367	0.0082	287	c.-69 others(296): Show c.-692_-691insTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGC AGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGACGTTTTCT T	PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding		596		chr18	TogoVar
PXDN_chr2_1626887_1749515	1719898	C C	CAGAGAGA others(280): Show CAGAGAGAGAGGGAGGGATGCAGAGAGAGAGGGAGGGGAGGGATGTAGAG AGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGAGAGGGAGGGAGGGAT GCAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGAGGGAGGGAG GGATGCAGAGAGAGAGGGAGGGGAGGGATGTAGAGAGAGAGAGAGGGAGG GATGCAGAGAGAGAGGGAGGGGAGGGATGTAGAGAGAGAGAGAGAGAGGG AGGGATGCAGAGAGAGAGAGAGGGAGGGAGGGATGCAG	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0199 a0001c0001t0002g0199	1	258	0.0039	287	c.200 others(306): Show c.200+24357_200+24358insCTGCATCCCTCCCTCCCTCTCTCTCT CTCTGCATCCCTCCCTCTCTCTCTCTCTCTCTACATCCCTCCCCTCCCTC TCTCTCTGCATCCCTCCCTCTCTCTCTCTCTACATCCCTCCCCTCCCTCT CTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTGCATCCCTCCCTCCCTCT CTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTCTGCATCCCTCCCT CCCTCTCTCTCTCTCTACATCCCTCCCCTCCCTCTCTCTCTGCATCCCTC CCTCTCTCTCT	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
REEP6_chr19_1486181_1502927	1500842	A A	AGGGAGGA others(280): Show AGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGAG GGGAGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGGGGGAGA GGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGGAGGAGG GGAGGGGGAGGAGGGAAGGGGAGGGGGAGGAGGGGGGAGGGGGGGAGGAG GGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACG GGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02486.hp2 HG02647.hp1 others(5): Show HG02257.hp1 HG02486.hp2 HG02647.hp1 HG02965.hp1 HG03041.hp1 HG03486.hp2 NA18522.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0002 a0001c0001t0002 a0001c0003t0002	a0001c0001t0002g0146 a0001c0003t0002g0012 a0001c0003t0002g0048 others(2): Show a0001c0001t0002g0146 a0001c0003t0002g0012 a0001c0003t0002g0048 a0001c0003t0002g0049 a0001c0003t0002g0051	8	293	0.0273	287	c.36 others(298): Show c.3631_*3632insGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGA GGAGGGGAGGGGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGG AGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAG GAGGGAAGGAGGAGGGGAGGGGGAGGAGGGAAGGGGAGGGGGAGGAGGGG GGAGGGGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGC GGGGAGGAGGGGACGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2916		chr19	TogoVar
RNF17_chr13_24759169_24884921	24881964	A A	ATATAGAT others(280): Show ATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATAT ATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATAT AGATACATCTATATATAGATACATCTATATATAGATACATCTATATATAG ATACATCTATATATAGATACATCTATATATAGATACATCATCTATATATA GATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGA TACATCTATATATAGATACATCTATATATAGATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	399	0.0025	287	c.22 others(298): Show c.2238_*2239insTATAGATACATCTATATATAGATACATCTATATA TAGATACATCTATATATAGATACATCTATATATAGATACATCTATATATA GATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGA TACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATA CATCATCTATATATAGATACATCTATATATAGATACATCTATATATAGAT ACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATAC ATC	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2044		chr13	TogoVar
RPH3AL_chr17_207389_357807	340736	C C	CCAGGCCT others(280): Show CCAGGCCTCCCCACGTCCACACTCACTGCCCCCCTCCCAGGCCTCCCCAC ATCCACACTCACTGCCTCCCACCCAGGCCTCCCCACATCCACACTCACTG CCCCCCACCCAGGCCTCCCCACATCCAATCTCACTGCCCCGACCCAGGCC TCCCCACATCCACACTCACTGCCCCCCACCCAGGCCTCCCCACATCCACA CTCACTGTCCCCCACCCAGGCTTCCCCACATCCACACTCACTGCCCCCCA CCCAGGCCTCCCCACATCCACACTCACTGCCCCGGGCT	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA18522.hp2 HG02976.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0029 a0001c0001t0001 a0001c0002t0029	a0001c0001t0001g0104 a0001c0002t0029g0103 a0001c0001t0001g0104 a0001c0002t0029g0103	2	128	0.0156	287	c.-21 others(306): Show c.-212-6803_-212-6802insAGCCCGGGGCAGTGAGTGTGGATGTG GGGAGGCCTGGGTGGGGGGCAGTGAGTGTGGATGTGGGGAAGCCTGGGTG GGGGACAGTGAGTGTGGATGTGGGGAGGCCTGGGTGGGGGGCAGTGAGTG TGGATGTGGGGAGGCCTGGGTCGGGGCAGTGAGATTGGATGTGGGGAGGC CTGGGTGGGGGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGTGGGAGGCA GTGAGTGTGGATGTGGGGAGGCCTGGGAGGGGGGCAGTGAGTGTGGACGT GGGGAGGCCTG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	1/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	340736	C C	CCAGGCCT others(280): Show CCAGGCCTCCCCACGTCCACACTCACTGCCCCCCTCCCAGGCCTCCCCAC ATCCACACTCACTGCCTCCCACCCAGGCCTCCCCACATCCACACTCACTG CCCCCCACCCAGGCCTCCCCACATCCAATCTCACTGCCCCGACCCAGGCC TCCTCACATCCACACTCACTGCCCCCCACCCAGGCCTCCCCACATCCACA CTCACTGTCCCCCACCCAGGCTTCCCCACATCCACACTCACTGCCCCCCA CCCAGGCCTCCCCACATCCACACTCACTGCCCCGGGCT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01358.hp2 HG01361.hp2 HG01192.hp1 HG01358.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0013 a0001c0001t0002 a0001c0001t0013	a0001c0001t0002g0061 a0001c0001t0013g0107 a0001c0001t0013g0108 a0001c0001t0002g0061 a0001c0001t0013g0107 a0001c0001t0013g0108	3	129	0.0233	287	c.-21 others(306): Show c.-212-6803_-212-6802insAGCCCGGGGCAGTGAGTGTGGATGTG GGGAGGCCTGGGTGGGGGGCAGTGAGTGTGGATGTGGGGAAGCCTGGGTG GGGGACAGTGAGTGTGGATGTGGGGAGGCCTGGGTGGGGGGCAGTGAGTG TGGATGTGAGGAGGCCTGGGTCGGGGCAGTGAGATTGGATGTGGGGAGGC CTGGGTGGGGGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGTGGGAGGCA GTGAGTGTGGATGTGGGGAGGCCTGGGAGGGGGGCAGTGAGTGTGGACGT GGGGAGGCCTG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	1/9			chr17	TogoVar
RSPH1_chr21_42467486_42501224	42477006	G G	GGGGGTGC others(280): Show GGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATGCC CCACACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGCCCTACACCCT CTGCCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCC TCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCACTCCA CAGCCCGGGGGTGCCCTACACCCTCTGCCCCCTCCACCCCACAGCCCGGG GATGCCCCACACCCTCTGACCCCTCCACCCCACAGCCC	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0060	1	403	0.0025	287	c.727 others(302): Show c.727+284_727+285insGGGCTGTGGGGTGGAGGGGTCAGAGGGTGT GGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTAGGGCACCC CCGGGCTGTGGAGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGT GGGGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAG GGGGGCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGA GGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGG GCACCCC	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
RSPH1_chr21_42467486_42501224	42477223	G G	GCCCCCTC others(280): Show GCCCCCTCCACCCCTCAGCCCGGGGATGCCCCACACCCTCTGACCCCTCC ACTCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAG CCCGGGGATGCCCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGAT GCCCCACACCCTCTGTCCCACAGCCCGGGGGTGCCCCACACCCTCTGCCC CCTCCACCCCACAGCCCGGGGGTGCCCCACACCCTCTGACCCCTCCACTC CACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0367 a0001c0001t0001g0367	1	389	0.0026	287	c.727 others(300): Show c.727+67_727+68insTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGG GCTGTGGAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGG TGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGACAGAGGGTG TGGGGCATCCCCGGGCTGTGGGGTGGAGGGGTCAGAGGGTGTGGGGCATC CCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTG TGGAGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGAGGGGTGGA GGGGG	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
RSPH1_chr21_42467486_42501224	42477225	C C	CCCACAGC others(280): Show CCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCC CGGGGGTGCCCCACACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGC CCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCC TCTGACCCCTCCACCCCACAGCCCGGGGGTGCCCTACACCCTCTGCCCCC TCCACTCCACAGCCCGGGGGTGCCCCACACCCTCTGACCCCTCCACCCCA CAGCCCGGGGGTGCCCTACACCCTCTGCCCCCTCCACT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0227 a0001c0001t0002g0227	1	122	0.0082	287	c.727 others(300): Show c.727+65_727+66insAGTGGAGGGGGCAGAGGGTGTAGGGCACCCCC GGGCTGTGGGGTGGAGGGGTCAGAGGGTGTGGGGCACCCCCGGGCTGTGG AGTGGAGGGGGCAGAGGGTGTAGGGCACCCCCGGGCTGTGGGGTGGAGGG GTCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGG TGTGGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGGTGTGGGGCA CCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGC TGTGG	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
RSPH1_chr21_42467486_42501224	42477225	C C	CCCCTCCA others(280): Show CCCCTCCACTCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCCTCCAC CCCACAGCCCGGGGATGCCCCACACCCTCTGTCCCACAGCCCGGGGGTGC CCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCC TCTGACCCCTCCACTCCACAGCCCGGGGGTGCCCTACACCCTCTGACCCC TCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCCTCCACCCCA CAGCCCGGGGGTGCCCCACACCCTCTGACCCCTCCACT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0142 a0001c0001t0002g0142	1	122	0.0082	287	c.727 others(300): Show c.727+65_727+66insAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCC GGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCATCCCCGGGCTGTGG GGTGGAGGGGTCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTGGAGGG GTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGG TGTGGGGCACCCCCGGGCTGTGGGACAGAGGGTGTGGGGCATCCCCGGGC TGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCATCCCCGGGCTGTGGAGTG GAGGG	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
RSPH1_chr21_42467486_42501224	42477245	C C	CACACCCT others(280): Show CACACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGCCCCACACCCTC TGCCCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTC CACCCCACAGCCCGGGGGTGCCCCACACCCTCTGACCCCTCCACCCCACA GCCCGGGGGTGCCCCACACCCTCTGACCCCTCCACTCCACAGCCCGGGGG TGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGGTGCCCCACA CCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGCCCT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0164 a0001c0001t0010g0164	1	153	0.0065	287	c.727 others(300): Show c.727+45_727+46insAGGGCACCCCCGGGCTGTGGAGTGGAGGGGTC AGAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGT GGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGGTGTGGGGCACCC CCGGGCTGTGGGGTGGAGGGGTCAGAGGGTGTGGGGCACCCCCGGGCTGT GGGGTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGAG GGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGAG GGTGT	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
RSPH1_chr21_42467486_42501224	42477245	C C	CACACCCT others(280): Show CACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTC TGACCCCTCCACTCCACAGCCCGGGGGTGCCCTACACCCTCTGCCCCCTC CACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCACTCCACA GCCCGGGGGTGCCCTACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGA TGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGGTGCCCCACA CCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGCCCT	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18954.hp2 NA18955.hp2 others(3): Show NA18940.hp1 NA18954.hp2 NA18955.hp2 NA18960.hp2 NA18984.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0259 a0001c0001t0001g0263 a0001c0001t0001g0264 others(3): Show a0001c0001t0001g0259 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0003g0212 a0001c0001t0003g0276 a0001c0001t0003g0289	6	158	0.0380	287	c.727 others(300): Show c.727+45_727+46insAGGGCACCCCCGGGCTGTGGAGTGGAGGGGTC AGAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGT GGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTAGGGCACCC CCGGGCTGTGGAGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGT GGGGTGGAGGGGGCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTGGAG GGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAG GGTGT	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
RSPH1_chr21_42467486_42501224	42477245	C C	CACACCCT others(280): Show CACACCCTCTGCCCCCTCCACTCCACAGCCCGGGGATGCCCCACACCCTC TGCCCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCCTCTGACCCCTC CACTCCACAGCCCGGGGGTGCCCTACACCCTCTGCCCCCTCCACCCCACA GCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGA TGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGGTGCCCCACA CCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGCCCT	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18982.hp2 NA19004.hp2 NA18943.hp1 NA18982.hp2 NA19004.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0090 a0001c0002t0002g0110 a0001c0002t0002g0138 a0001c0002t0002g0090 a0001c0002t0002g0110 a0001c0002t0002g0138	3	155	0.0194	287	c.727 others(300): Show c.727+45_727+46insAGGGCACCCCCGGGCTGTGGAGTGGAGGGGTC AGAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGT GGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCACCC CCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTAGGGCACCCCCGGGCTGT GGAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGAG GGGGCAGAGGGTGTGGGGCATCCCCGGGCTGTGGAGTGGAGGGGGCAGAG GGTGT	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
RSPH1_chr21_42467486_42501224	42477266	C C	CCCACAGC others(280): Show CCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCACTCCACAGCC CGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATGC CCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCC TCTGCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCC TCCACTCCACAGCCCGGGGGTGCCCTACACCCTCTGCCCCCTCCACCCCA CAGCCCGGGGGTGCCCCACACCCTCTGACCCCTCCACT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0118 a0002c0011t0001g0118	1	399	0.0025	287	c.727 others(300): Show c.727+24_727+25insAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCC GGGCTGTGGGGTGGAGGGGGCAGAGGGTGTAGGGCACCCCCGGGCTGTGG AGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGG GGCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGG TGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCA CCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGC TGTGG	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
SASH1_chr6_148337838_148557044	148481015	T T	TAAAAATG others(280): Show TAAAAATGTTCTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAAATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGT GAGCCGAGATCGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGC GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01175.hp2 HG01243.hp2 others(14): Show HG00741.hp2 HG01175.hp2 HG01243.hp2 HG01358.hp1 HG01433.hp1 HG02083.hp1 HG02083.hp2 HG03017.hp1 HG03017.hp2 HG03239.hp2 HG03516.hp1 HG03927.hp1 HG03927.hp2 NA18959.hp2 NA19011.hp2 NA19012.hp2 NA19085.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0006 a0001c0001 a0002c0002 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0020 a0001c0001t0025 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0003c0006t0009	a0001c0001t0001g0151 a0001c0001t0002g0154 a0001c0001t0005g0224 others(14): Show a0001c0001t0001g0151 a0001c0001t0002g0154 a0001c0001t0005g0224 a0001c0001t0006g0302 a0001c0001t0009g0011 a0001c0001t0009g0166 a0001c0001t0020g0170 a0001c0001t0025g0005 a0002c0002t0001g0216 a0002c0002t0001g0254 a0002c0002t0001g0300 a0002c0002t0002g0010 a0002c0002t0002g0023 a0002c0002t0003g0180 a0002c0002t0004g0193 a0002c0002t0004g0277 a0003c0006t0009g0069	17	287	0.0592	287	c.628 others(304): Show c.628-6590_628-6589insCTTTGGGAGGCCGAGGCGGGCGGATCAC GAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTC TACTAAAAATACAAAAAAATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGT CCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGC GGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCAGTCCGCAGTCCGGCCT GGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA AAAAATGTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SCAPER_chr15_76342904_76910340	76800144	T T	TATACATG others(280): Show TATACATGGATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGTTCTGTCGCCCAGGCGGGAGTGCAGTGGCGCGATCTCCGCTCAC TGCAAGCTCCGCCTTCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTTTTGTA TTTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	217	0.0046	287	c.611 others(302): Show c.611+103_611+104insGTAATCCCAGCACTTTGGGAGGCCGAGGCG GGCGGATCACGAGGTCAGGAGATCGAGACCACGGTGAAACCCCGTCTCTA CTAAAAAATACAAAAAATTAGCCGGGCGCAGTGGCGGGCGCCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGAAGGCGG AGCTTGCAGTGAGCGGAGATCGCGCCACTGCACTCCCGCCTGGGCGACAG AACGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATC CATGTAT	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	7/31			chr15	TogoVar
SCARB1_chr12_124771856_124868864	124839644	T T	TCCCAACA others(280): Show TCCCAACAGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACAG CACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACAGCACACATGG GCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGGGCCCCGATT TCTCCGCACCCTCACCCCAACAGCACACATGGGCCCCGATTTCTCCGCAC CCTCACCCCAACAGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCC AACGGCACACATGGGCCCCGATTTCTCCGCACCCTCAC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0004 a0002c0006t0004	a0002c0006t0004g0012 a0002c0006t0004g0012	1	173	0.0058	287	c.127 others(306): Show c.127-21938_127-21937insGTGAGGGTGCGGAGAAATCGGGGCCC ATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCT GTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCTGTTGGGGTG AGGGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTGCGG AGAAATCGGGGCCCATGTGTGCTGTTGGGGTGAGGGTGCGGAGAAATCGG GGCCCATGTGTGCTGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGT GTGCTGTTGGG	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12			chr12	TogoVar
SCARB1_chr12_124771856_124868864	124839644	T T	TCCCAACA others(280): Show TCCCAACAGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACAG CACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGG GCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGGGCCCCGATT TCTCCGCACCCTCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCAC CCTCACCCCAACAGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCC AACAGCACACATGGGCCCCGATTTCTCCGCACCCTCAC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0164 a0001c0002t0003g0164	1	173	0.0058	287	c.127 others(306): Show c.127-21938_127-21937insGTGAGGGTGCGGAGAAATCGGGGCCC ATGTGTGCTGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCT GTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTG AGGGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTGCGG AGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAATCGG GGCCCATGTGTGCTGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGT GTGCTGTTGGG	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12			chr12	TogoVar
SCARB1_chr12_124771856_124868864	124839644	T T	TCCCAACA others(280): Show TCCCAACAGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACAG CACACATGGGCCCCGATTTCTCCGCATCCTCACCCCAACAGCACACATGG GCCCCGATTTCTCCGCACCCTCACCCCAACAGCACACATGGGCCCCGATT TCTCCGCACCCTCACCCCAACAGCACACATGGGCCCCGATTTCTCCGCAC CCTCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCC AACGGCACACATGGGCCCCGATTTCTCCGCACCCTCAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0081 a0001c0002t0001g0081	1	173	0.0058	287	c.127 others(306): Show c.127-21938_127-21937insGTGAGGGTGCGGAGAAATCGGGGCCC ATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCC GTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCTGTTGGGGTG AGGGTGCGGAGAAATCGGGGCCCATGTGTGCTGTTGGGGTGAGGGTGCGG AGAAATCGGGGCCCATGTGTGCTGTTGGGGTGAGGATGCGGAGAAATCGG GGCCCATGTGTGCTGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGT GTGCTGTTGGG	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12			chr12	TogoVar
SCARB1_chr12_124771856_124868864	124839644	T T	TCCCAACA others(280): Show TCCCAACAGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACGG CACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGG GCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGGGCCCCGATT TCTCCGCACCCTCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCAC CCTCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCC AACGGCACACATGGGCCCCGATTTCTCCGCACCCTCAC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0225 a0001c0001t0006g0225	1	173	0.0058	287	c.127 others(306): Show c.127-21938_127-21937insGTGAGGGTGCGGAGAAATCGGGGCCC ATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCC GTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTG AGGGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTGCGG AGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAATCGG GGCCCATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGT GTGCTGTTGGG	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12			chr12	TogoVar
SCARB1_chr12_124771856_124868864	124839692	G G	GGCACACA others(280): Show GGCACACATGGGCCCCGATTTCTCCGCACACTCACCCCAACAGCACACAT GGGCCCCGATTTCTCTGCACCCTCACCCCAACAGCACACATGGGCCCCGA TTTCTCCGCACCCTCACCCCAACAGCACACATGGGCCCCGATTTCTCCGC ACACTCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCACACTCACC CCAACGGCACACATGGGCCCCGATTTCTCTGCACCCTCACCCCAACAGCA CACATGGGCCCCGATTTCTCTGCACCCTCACCCCAACA	intron_variant intron_variant	MODIFIER	HG02135.hp2 NA18944.hp1 HG02135.hp2 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0004 a0001c0007t0010 a0001c0001t0004 a0001c0007t0010	a0001c0001t0004g0297 a0001c0007t0010g0156 a0001c0001t0004g0297 a0001c0007t0010g0156	2	236	0.0085	287	c.127 others(306): Show c.127-21986_127-21985insTGTTGGGGTGAGGGTGCAGAGAAATC GGGGCCCATGTGTGCTGTTGGGGTGAGGGTGCAGAGAAATCGGGGCCCAT GTGTGCCGTTGGGGTGAGTGTGCGGAGAAATCGGGGCCCATGTGTGCCGT TGGGGTGAGTGTGCGGAGAAATCGGGGCCCATGTGTGCTGTTGGGGTGAG GGTGCGGAGAAATCGGGGCCCATGTGTGCTGTTGGGGTGAGGGTGCAGAG AAATCGGGGCCCATGTGTGCTGTTGGGGTGAGTGTGCGGAGAAATCGGGG CCCATGTGTGC	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12			chr12	TogoVar
SCARB1_chr12_124771856_124868864	124839733	G G	GGCACACA others(280): Show GGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACAT GGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGGGCCCCGA TTTCTCCGCACCCTCACCCCAACAGCACACATGGGCCCCGATTTCTCCGC ACCCTCACCCCAACAGCACACATGGGCCCCGATTTCTCCGCACCCTCACC CCAACAGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACAGCA CACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01891.hp1 HG02280.hp2 HG01243.hp1 HG01891.hp1 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0016 a0001c0005t0003 a0001c0005t0004 a0001c0001t0016 a0001c0005t0003 a0001c0005t0004	a0001c0001t0016g0240 a0001c0005t0003g0349 a0001c0005t0004g0347 a0001c0001t0016g0240 a0001c0005t0003g0349 a0001c0005t0004g0347	3	309	0.0097	287	c.127 others(306): Show c.127-22027_127-22026insTGTTGGGGTGAGGGTGCGGAGAAATC GGGGCCCATGTGTGCTGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCAT GTGTGCTGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCTGT TGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCTGTTGGGGTGAG GGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTGCGGAG AAATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAATCGGGG CCCATGTGTGC	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12			chr12	TogoVar
SCARB1_chr12_124771856_124868864	124839759	C C	CACCCTCA others(280): Show CACCCTCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCACCCTCAC CCCAACGGCACACATGGGCCCCGATTTCTCCGCACACTCACCCCAACAGC ACACATGGGCCCCGATTTCTCTGCACCCTCACCCCAACAGCACACATGGG CCCCGATTTCTCTGCACCCTCACCCCAACAGCACACATGGGCCCCGATTT CTCCGCACCCTCACCCCAACAGCACACATGGGCCCCGATTTCTCCACACC CTCACCCCAACAGCACACATGGGCCCCGATTTCTCCGT	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0275 a0001c0003t0002g0275	1	349	0.0029	287	c.127 others(306): Show c.127-22053_127-22052insACGGAGAAATCGGGGCCCATGTGTGC TGTTGGGGTGAGGGTGTGGAGAAATCGGGGCCCATGTGTGCTGTTGGGGT GAGGGTGCGGAGAAATCGGGGCCCATGTGTGCTGTTGGGGTGAGGGTGCA GAGAAATCGGGGCCCATGTGTGCTGTTGGGGTGAGGGTGCAGAGAAATCG GGGCCCATGTGTGCTGTTGGGGTGAGTGTGCGGAGAAATCGGGGCCCATG TGTGCCGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCCGTT GGGGTGAGGGT	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12			chr12	TogoVar
SCARB1_chr12_124771856_124868864	124839925	C C	CCCTCACC others(280): Show CCCTCACCCCAACAGCACACATGGGCCCCGATTTCTCCGCACCCTCACCC CAACAGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACAGCAC ACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGGGCC CCGATTTCTCCGCACCCTCACCCCAACGGCACACATGGGCCCCGATTTCT CCGCACCCTCACCCCAACAGCACACATGGGCCCCGATTTCTCCGCACCCT CACCCCAACGGCACACATGGGCCCCGATTTCTCCGCAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0351 a0001c0005t0003g0351	1	345	0.0029	287	c.127 others(306): Show c.127-22219_127-22218insATGCGGAGAAATCGGGGCCCATGTGT GCCGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCTGTTGGG GTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTG CGGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAAT CGGGGCCCATGTGTGCTGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCA TGTGTGCTGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCTG TTGGGGTGAGG	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12			chr12	TogoVar
SCARB1_chr12_124771856_124868864	124840024	C C	CACATGGG others(280): Show CACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGGGC CCCGATTTCTCCGCACCCTCACCCCAACAGCACACATGGGCCCCGATTTC TCCGCACCCTCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCATCC TCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCACACTCACCCCAA CGGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACA TGGGCCCCGATTTCTCCGCATCCTCACCCCAACAGCAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0005 a0001c0017t0005	a0001c0017t0005g0341 a0001c0017t0005g0341	1	21	0.0476	287	c.127 others(306): Show c.127-22318_127-22317insATGCTGTTGGGGTGAGGATGCGGAGA AATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAATCGGGGC CCATGTGTGCCGTTGGGGTGAGTGTGCGGAGAAATCGGGGCCCATGTGTG CCGTTGGGGTGAGGATGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGG TGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCTGTTGGGGTGAGGGTGC GGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAATC GGGGCCCATGT	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12			chr12	TogoVar

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