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
NME4_chr16_392199_405754	397703	G G	GGGGGGGT others(451): Show GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0234 a0001c0003t0001g0234	1	356	0.0028	458	c.91+ others(471): Show c.91+393_91+394insGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGT GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NME4_chr16_392199_405754	397716	G G	GTGAGGGA others(451): Show GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGG TGAGGGAGTCGGGGAGTGGGGGGTGGGGGGGGTGAGGGAGTCCGGGGGTG GGGGTGGGGGTGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGG TGGGGGGGC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0169 a0001c0005t0001g0169	1	356	0.0028	458	c.91+ others(471): Show c.91+432_91+433insGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGG GGAGTGGGGGGTGGGGGGGGTGAGGGAGTCCGGGGGTGGGGGTGGGGGTG TGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGCTGA GGGAGTCGGGGGGTGGGGGTGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NMRK2_chr19_3928069_3947416	3937900	C C	CGCTCCCC others(451): Show CGCTCCCCGTCCACTGTCCCCCCGGGGTCCACCCTCCTGCAATGCCCGCT CCCCCTCCACTGTCCCCCCGGGGTCTGCCCTCCTGCAATACCTGCTCCCC GTCCACTGTCCCCCCGGGGTCCACCCTCCTGCAATACCTGCTCCCCGTCC ACTGTTCCCCCGGGGTCCGCCCTCCTGCAATACCCGCTCCCCGTCCACTG TCCCCCCGGGGTCCACCCTCCTGCAATGCCCGCTCCCGTCCACTGTTCCC CCGGGGTCCACCCTCCTGCAATACCCGCTCCCCGTCCACTGTCCCCCCGG GGTCCACCCTCCTGCAATGCCCGCTCCCCTCCACTGTCCCCCCGGGGTCT GCCCTCCTGCAATACCTGCTCCCCGTCCACTGTCCCCCCGGGGTCCACCC TCCTGCAATACCTGCTCCCCGTCCACTGTTCCCCTGGGGTCCGCCCTCCT GCAATACCT	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	404	0.0025	458	c.166 others(473): Show c.166+628_166+629insCCCCCCGGGGTCCACCCTCCTGCAATGCCC GCTCCCCCTCCACTGTCCCCCCGGGGTCTGCCCTCCTGCAATACCTGCTC CCCGTCCACTGTCCCCCCGGGGTCCACCCTCCTGCAATACCTGCTCCCCG TCCACTGTTCCCCCGGGGTCCGCCCTCCTGCAATACCCGCTCCCCGTCCA CTGTCCCCCCGGGGTCCACCCTCCTGCAATGCCCGCTCCCGTCCACTGTT CCCCCGGGGTCCACCCTCCTGCAATACCCGCTCCCCGTCCACTGTCCCCC CGGGGTCCACCCTCCTGCAATGCCCGCTCCCCTCCACTGTCCCCCCGGGG TCTGCCCTCCTGCAATACCTGCTCCCCGTCCACTGTCCCCCCGGGGTCCA CCCTCCTGCAATACCTGCTCCCCGTCCACTGTTCCCCTGGGGTCCGCCCT CCTGCAATACCTGCTCCCCGTCCACTGT	NMRK2	ENSG00000077009.14	transcript	ENST00000168977.7	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
NOTCH1_chr9_136489433_136551048	136535464	C C	CGGGGAGC others(451): Show CGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTGG AGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGT GGAGAGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGG GTGGAGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTG GGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTG GGTGGAGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGT GGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGT GGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGG GTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGG GTGGGTGGG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0254 a0001c0001t0003g0254	1	324	0.0031	458	c.140 others(475): Show c.140+8559_140+8560insCCCACCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCC TGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCC TGGGAGGGATCCTGAGTGCTCCCCCTCCACCCACCCTGCACCCATTGCCC CTGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCC CTGGGAGGGATCCTGAGTGCTCCCCCTCCACCCACCCTGCACCCATTGCC CCTGGGAGGGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCACCCATTG CCCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCAT TGCCCCTGGGAGGGATCCTGAGTGCTCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535509	G G	GGTGGAGG others(451): Show GGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGGTGCAGG GTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGGTGC AGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGT GCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGG TGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGA GTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGGGCAAT GGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCA ATGGGTGCA	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0007 a0001c0008t0007	a0001c0008t0007g0277 a0001c0008t0007g0277	1	324	0.0031	458	c.140 others(475): Show c.140+8514_140+8515insTGCACCCATTGCCCCTGGGAGGGATCCT GAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATC CTGAGTGCTCCCCTCTCCACCCACCCTGCACTCATTGCCCCGGGAGGGAT CCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCGGGAGGGA TCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGG GATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCGGGAG GGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGG AGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCGG GAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCT GGGAGGGATCCTGAGTGCTCCCCCCTCCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NPRL3_chr16_80386_143673	81888	G G	GGGAAGGC others(451): Show GGGAAGGCCTCCTGAATGCTCCCCACACTGACCCCTTCTTCCCACCACCC CTATCTCCAGGAAGGCCTCCTGAATGCTCCCCACACTGACCCCTTCTTCC CACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCC TTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGC TGACCCCTTCTTCCCACCACCCTATCTCCAGGAAGGCCTCCTGAATGCTC CCCACACTGACCCCTTCTTCCCACCACCCCTATCTCCGGGAAGGCCTCGT GAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAG GCCTCCTGAATGCTCCCGGCGCTGACCCCTTCTTCCCACCACCCTACCTC CGGGAAGGCCTCCTGAATGCTCCCCACACTGACCCCTTCTTCCCACCACC CTATCTCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0350 a0001c0001t0013g0350	1	350	0.0029	458	c.48 others(469): Show c.4816_*4817insTGGAGATAGGGTGGTGGGAAGAAGGGGTCAGTGT GGGGAGCATTCAGGAGGCCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGGG TCAGCGCCGGGAGCATTCAGGAGGCCTTCCCGGAGGTAGGGTGGTGGGAA GAAGGGGTCAGCGCGGGGAGCATTCACGAGGCCTTCCCGGAGATAGGGGT GGTGGGAAGAAGGGGTCAGTGTGGGGAGCATTCAGGAGGCCTTCCTGGAG ATAGGGTGGTGGGAAGAAGGGGTCAGCGCGGGGAGCATTCAGGAGGCCTT CCCGGAGATAGGGTGGTGGGAAGAAGGGGTCAGCGCGGGGAGCATTCAGG AGGCCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGGGTCAGTGTGGGGAGC ATTCAGGAGGCCTTCCTGGAGATAGGGGTGGTGGGAAGAAGGGGTCAGTG TGGGGAGCATTCAGGAGGCCTTCC	NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding		3497		chr16	TogoVar
NRROS_chr3_196634694_196667004	196634835	G G	GTGGGGGC others(451): Show GTGGGGGCTGGGAGAAGTGGGGTCTGGAGAAGTGGGGGCTAGAGAAGTGG GGGCTAGAGAAGTGGGGGCTGGGAGAAGTGGGGTCTGGAGAAGTGGGGGC TAGAGAAGTGGGGGCTGGGAGAAGTGGGGTCTGGAGAAGTGGGGGCTGGA GAAGTGGAGGCTGGAGAAGTGGAGGCTGGAGAAGTGGGGGCTGGAGAAGT GGGGGCTGGGAGAAGTGGGGGCTGGAGAAGTGGAGGCTGGAGAATTGGAG GCTGGAGAAGTGGGGGCTGGGAGAAGTGGGGTCTGGAGAAGTGGGGGCTA GAGAAGTGGGGGCTGGGAGAAGTGGGGTCTGGAGAAGTGGGGGCTGGAGA AGTGGGGGCTGGAGAAGTGGGGGCTGGGAGAAGTGGGGGCTGGAGAAGTG GGGGCTGGAGAAGTGGGGGCTGGGAGAAGTGGGGTCTGGAGAAGTGGAGG CTGGAGAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0305 a0001c0002t0001g0305	1	472	0.0021	458	c.-50 others(469): Show c.-5054_-5053insTGGGGGCTGGGAGAAGTGGGGTCTGGAGAAGTGG GGGCTAGAGAAGTGGGGGCTAGAGAAGTGGGGGCTGGGAGAAGTGGGGTC TGGAGAAGTGGGGGCTAGAGAAGTGGGGGCTGGGAGAAGTGGGGTCTGGA GAAGTGGGGGCTGGAGAAGTGGAGGCTGGAGAAGTGGAGGCTGGAGAAGT GGGGGCTGGAGAAGTGGGGGCTGGGAGAAGTGGGGGCTGGAGAAGTGGAG GCTGGAGAATTGGAGGCTGGAGAAGTGGGGGCTGGGAGAAGTGGGGTCTG GAGAAGTGGGGGCTAGAGAAGTGGGGGCTGGGAGAAGTGGGGTCTGGAGA AGTGGGGGCTGGAGAAGTGGGGGCTGGAGAAGTGGGGGCTGGGAGAAGTG GGGGCTGGAGAAGTGGGGGCTGGAGAAGTGGGGGCTGGGAGAAGTGGGGT CTGGAGAAGTGGAGGCTGGAGAAT	NRROS	ENSG00000174004.6	transcript	ENST00000328557.5	protein_coding		4858		chr3	TogoVar
NT5DC3_chr12_103767310_103846234	103768598	G G	GGGGAGGG others(451): Show GGGGAGGGGGGAGGGAGAGGGACAGGGACAGGGAGAGGGAGAGGGAGAGA GAGGGAGGGAGAGGGGGAGGGAGAGGGAGAGGGACAGGGAGAGGGAGGGA GAGAGGGAGAGGGAGGGGAGGGGGGAGAGGGAGGGGAGGGGGAGAGGGGG GAGAGAGAGGGAGGGGGTGGGAGGGGAGGGAGGGAGAGGGACAGGGAGAG GGAGGGAGAGGGAGAGAAGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGGG AGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGGGAGGGGGGA GGGAGAGAGATGGGGGAGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGA TGGGGGAGGGAGAGGGACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAG GGAGAGGGGGAGAGAGGGAGAGGGAGAGAGAGGGAAAGGGAGTGAGAGAG AGAGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG01081.hp1 HG01243.hp1 others(4): Show HG00280.hp1 HG01081.hp1 HG01243.hp1 HG02004.hp2 HG02132.hp2 HG04204.hp1 NA18995.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0015 a0001c0002t0025 a0001c0002t0001 a0001c0002t0015 a0001c0002t0025	a0001c0002t0001g0074 a0001c0002t0001g0171 a0001c0002t0001g0324 others(4): Show a0001c0002t0001g0074 a0001c0002t0001g0171 a0001c0002t0001g0324 a0001c0002t0001g0336 a0001c0002t0001g0353 a0001c0002t0015g0323 a0001c0002t0025g0111	7	386	0.0181	458	c.92 others(469): Show c.9230_*9231insTCTCCCTCTCTCTCTCACTCCCTTTCCCTCTCTC TCCCTCTCCCTCTCTCCCCCTCTCCCTCCCCCTCTCCCTCTCCTTCTCCC TCCCCCTGTCCCTCTCCCTCCCCCATCCCTCTCCCTCCCCCATCCCTCTC CCTCCCCCTCCCCCATCTCTCTCCCTCCCCCCTCCCTCCCTCTCCCTCTC CCTCCCTCTCCCTCCCTCTCCCTCTCCCTCCCTCTCCCTCTCCCTCCCTC TCCCTCCTTCTCTCCCTCTCCCTCCCTCTCCCTGTCCCTCTCCCTCCCTC CCCTCCCACCCCCTCCCTCTCTCTCCCCCCTCTCCCCCTCCCCTCCCTCT CCCCCCTCCCCTCCCTCTCCCTCTCTCCCTCCCTCTCCCTGTCCCTCTCC CTCTCCCTCCCCCTCTCCCTCCCTCTCTCTCCCTCTCCCTCTCCCTGTCC CTGTCCCTCTCCCTCCCCCCTCCC	NT5DC3	ENSG00000111696.12	transcript	ENST00000392876.8	protein_coding		3711		chr12	TogoVar
NTN3_chr16_2466297_2479145	2466524	A A	ATACAAAA others(451): Show ATACAAAAAAATTAGCCCGGTGTGGTGGCATGCACCTGTGGTCCCAGTTA CCTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTG CAGTGAGCGGAGATGGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAG ACTCCGTCTCAAAGAAAACAAAAAAAAGTTAGCCGGCGTGGTGTGTGCCT GCATTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGG GAAGCAGAGGTTGCAGTGAGCCAAGATTGTGCCAATGTACTCCAGCCTGG GCGACAGAGCGAGACTCTGTGTCAAAAAAAAAAAAAAGGCAGGCACGGTG GCTCATGACTGTAATCCCAGCACTTTGGAAGGCCAAGGCAGGCGGATCAC GAGGTCAGGAGATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTC TACTAAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02451.hp1 HG02630.hp2 others(5): Show HG02145.hp1 HG02451.hp1 HG02630.hp2 HG02970.hp1 HG03041.hp1 HG03471.hp1 HG03516.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	8	300	0.0267	458	c.-51 others(469): Show c.-5178_-5177insTACAAAAAAATTAGCCCGGTGTGGTGGCATGCAC CTGTGGTCCCAGTTACCTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCC AGGAGGCAGAGGTTGCAGTGAGCGGAGATGGTGCCACTGCACTCCAGCCT GGGCAACAGAGTGAGACTCCGTCTCAAAGAAAACAAAAAAAAGTTAGCCG GCGTGGTGTGTGCCTGCATTCCCAGCTACTCAGGAGGCTGAGGCAGGAGA ATCACTTGAACCTGGGAAGCAGAGGTTGCAGTGAGCCAAGATTGTGCCAA TGTACTCCAGCCTGGGCGACAGAGCGAGACTCTGTGTCAAAAAAAAAAAA AAGGCAGGCACGGTGGCTCATGACTGTAATCCCAGCACTTTGGAAGGCCA AGGCAGGCGGATCACGAGGTCAGGAGATCAAGACCAGCCTGACCAACATG GTGAAACCTCGTCTCTACTAAAAC	NTN3	ENSG00000162068.2	transcript	ENST00000293973.2	protein_coding		4772		chr16	TogoVar
OPCML_chr11_132409981_133537501	133437698	G G	GCTCACCT others(451): Show GCTCACCTCTCCCCTCTCAACCCCGCTGACCTCTCCCCTTTGCAACCCCT CTCACCTCTCCCCTCTCAACCCCTCTCACCTCTCCCCTCTCAACCCCGCT CACCTCTCCCCTCTGCAACCCCTCTCACCTCTCCCCTCAACCCCGCTCAC CTCTCCCCTCTGCAACCCCTCTCACCTCTCCCCTCTCAACCCCTCTCACC TCTCCCCTCTCAACCCCTCTCACGTCTCCCCTCTCAACCCCTCTCACCTC TCCCCTCTAAACCCCGCTCACCTCTCCCCTCTGCAACCCCGCTCACCTCT CCCCTCTCAACCCCGCTCACCTCTCCCCTCTCAACCCCGCTCACCTCTCC CCTCTCAACCCCGCTCACCTCTCCCCTTTGCAACCCCTCTCACCTCTCCC CTCTCAACCCCTCTCACCTCTCCCCTCAACCCCGCTCACCTCTCCCCTCT GCAACCCCT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0046 a0001c0001t0003g0046	1	68	0.0147	458	c.61+ others(475): Show c.61+94565_61+94566insAGGGGTTGCAGAGGGGAGAGGTGAGCGG GGTTGAGGGGAGAGGTGAGAGGGGTTGAGAGGGGAGAGGTGAGAGGGGTT GCAAAGGGGAGAGGTGAGCGGGGTTGAGAGGGGAGAGGTGAGCGGGGTTG AGAGGGGAGAGGTGAGCGGGGTTGAGAGGGGAGAGGTGAGCGGGGTTGCA GAGGGGAGAGGTGAGCGGGGTTTAGAGGGGAGAGGTGAGAGGGGTTGAGA GGGGAGACGTGAGAGGGGTTGAGAGGGGAGAGGTGAGAGGGGTTGAGAGG GGAGAGGTGAGAGGGGTTGCAGAGGGGAGAGGTGAGCGGGGTTGAGGGGA GAGGTGAGAGGGGTTGCAGAGGGGAGAGGTGAGCGGGGTTGAGAGGGGAG AGGTGAGAGGGGTTGAGAGGGGAGAGGTGAGAGGGGTTGCAAAGGGGAGA GGTCAGCGGGGTTGAGAGGGGAGAGGTGAG	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
OR11H4_chr14_20234286_20249349	20237811	A A	AGTATATA others(451): Show AGTATATATAGTATATATAGTATATATACTCTATAGTATATATAGTATAT ATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATAT ATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATAT ATACTCTATAGTATATATAGTACATATAGTATATATACTATATGTACTAT ATAGTACATATAGTATATATACTATATGTACTATATATACTATAGAGTAT ATATACTATATATAGTATATATACTATATAGTACATATAGTATATATAGT ATATATAGTATATAGTACATATAGTATATATAGTATATATAGTATATAGT ATATATTTTATAGTATATATAGTATATATACTATATAGTATATATTATAT AGTATATATACTATAAAGTACATAATTTATATATTACATATAATACATAA TATATATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	439	0.0023	458	c.-15 others(469): Show c.-1532_-1531insGTATATATAGTATATATAGTATATATACTCTATA GTATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATA GTATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATA GTATATATAGTATATATACTCTATAGTATATATAGTACATATAGTATATA TACTATATGTACTATATAGTACATATAGTATATATACTATATGTACTATA TATACTATAGAGTATATATACTATATATAGTATATATACTATATAGTACA TATAGTATATATAGTATATATAGTATATAGTACATATAGTATATATAGTA TATATAGTATATAGTATATATTTTATAGTATATATAGTATATATACTATA TAGTATATATTATATAGTATATATACTATAAAGTACATAATTTATATATT ACATATAATACATAATATATATTT	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1474		chr14	TogoVar
OR11H4_chr14_20234286_20249349	20237811	A A	AGTATATA others(451): Show AGTATATATAGTATATATAGTATATATACTCTATAGTATATATAGTATAT ATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATAT ATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATAT ATACTCTATAGTATATATAGTATATATAGTATATATACTATATGTACTAT ATAGTACATATAGTATATATACTATATGTACTATATATACTATAGAGTAT ATATACTATATATAGTATATATACTATATAGTACATATAGTATATATAGT ATATATAGTATATAGTACATATAGTATATATAGTATATATAGTATATAGT ATATATTTTATAGTATATATAGTATATATACTATATAGTATATATTATAT AGTATATATACTATAAAGTACATAATTTATATATTACATATAATACATAA TATATATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp2 NA18984.hp1 HG02132.hp2 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0207 a0001c0001t0001g0009 a0001c0001t0001g0207	2	439	0.0046	458	c.-15 others(469): Show c.-1532_-1531insGTATATATAGTATATATAGTATATATACTCTATA GTATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATA GTATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATA GTATATATAGTATATATACTCTATAGTATATATAGTATATATAGTATATA TACTATATGTACTATATAGTACATATAGTATATATACTATATGTACTATA TATACTATAGAGTATATATACTATATATAGTATATATACTATATAGTACA TATAGTATATATAGTATATATAGTATATAGTACATATAGTATATATAGTA TATATAGTATATAGTATATATTTTATAGTATATATAGTATATATACTATA TAGTATATATTATATAGTATATATACTATAAAGTACATAATTTATATATT ACATATAATACATAATATATATTT	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1474		chr14	TogoVar
OSGIN1_chr16_83948240_83971332	83950741	G G	GCACACGT others(451): Show GCACACGTACACACATGCACACATGAGCACATGTGCACACATGCACATAC ATACTGGCACACACGTACACACATGCACACGAGCACATGTGCACACATGC ACATACATACTGGCACACACGTACACACACATGCACACATGAGCACATGT GCACACATGCACATACATACTGGCACACACGTACATGCACACATGAGCAC ATGTGCACACATGCACGTACATACTGGCACACGTACACACACGCACACAT GAGCACATGTGCACACATGCACATACATACTGGCACACGTACACGCACAC ATGAGCACATGTGCACACATGCACATACACACTGGCACACACGTACACAC ACACGCACACATGAGCACATGTGCACACATGCACACACATGCACACATGA GCACATGTGCACACATGCACACATGAGCACATGTGCACACATGCACATAC ATACTAGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0179 a0001c0003t0002g0179	1	350	0.0029	458	c.-26 others(469): Show c.-2662_-2661insCACACGTACACACATGCACACATGAGCACATGTG CACACATGCACATACATACTGGCACACACGTACACACATGCACACGAGCA CATGTGCACACATGCACATACATACTGGCACACACGTACACACACATGCA CACATGAGCACATGTGCACACATGCACATACATACTGGCACACACGTACA TGCACACATGAGCACATGTGCACACATGCACGTACATACTGGCACACGTA CACACACGCACACATGAGCACATGTGCACACATGCACATACATACTGGCA CACGTACACGCACACATGAGCACATGTGCACACATGCACATACACACTGG CACACACGTACACACACACGCACACATGAGCACATGTGCACACATGCACA CACATGCACACATGAGCACATGTGCACACATGCACACATGAGCACATGTG CACACATGCACATACATACTAGCA	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		2498		chr16	TogoVar
PCDH11Y_chrY_4995296_5747224	5525199	T T	TGGGAGGA others(451): Show TGGGAGGAGGAGGACTGGGAGGAGGAGGAGTGGGAGGAGGAGGGGGGAGG AGGCGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGGGGAGGAGGAG GGGGAGGGGAGGAGGAGGGGGCAGGAGGAGGAGTGGGAGGTGGAGGGGGT AGGAGGAGGAGGGGGAGGAGGGGGGAGGAGGAGGAGGGGGAGGAGGAGGG GGAGGAGGGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGG GAGGAGGAGGGGGAGGAGGCGGAGGGGGAGGAGGAGGGGGAGGAGGAGGG GGAGGGGGAGGAGGACGGGGAGGAGGAGGGGGAGGGGGAGGAGGACGGGG AGGAGGAGGGGGAGGGGGAGGAGGAGGGGGAGGAGGAGGAGTGGGGAGGA GGAGGGGGCAGGAGGAGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGG GGAGGAGGG	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	115	0.0087	458	c.305 others(479): Show c.3052+23957_3052+23958insCTGGGAGGAGGAGGAGTGGGAGGA GGAGGGGGGAGGAGGCGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAG GGGGAGGAGGAGGGGGAGGGGAGGAGGAGGGGGCAGGAGGAGGAGTGGGA GGTGGAGGGGGTAGGAGGAGGAGGGGGAGGAGGGGGGAGGAGGAGGAGGG GGAGGAGGAGGGGGAGGAGGGGGGAGGAGGAGGAGGGGGAGGAGGAGGGG GAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGCGGAGGGGGAGGAGGAGGG GGAGGAGGAGGGGGAGGGGGAGGAGGACGGGGAGGAGGAGGGGGAGGGGG AGGAGGACGGGGAGGAGGAGGGGGAGGGGGAGGAGGAGGGGGAGGAGGAG GAGTGGGGAGGAGGAGGGGGCAGGAGGAGGAGTGGGAGGTGGAGGGGGTA GGAGGAGGAGGGGGAGGAGGGGGGAGGAGGAGGA	PCDH11Y	ENSG00000099715.15	transcript	ENST00000698851.1	protein_coding	4/5		INFO_REALIGN_3_PRIME	chrY	TogoVar
PCDH11Y_chrY_4995296_5747224	5525212	A A	ACTGGGAG others(451): Show ACTGGGAGGAGGAGGAGTGGGAGGAGGAGGGGGGAGGAGGCGGAGGGGGA GGAGGAGGGGGAGGAGGAGGGGGAGGGGGAGGAGGAGGGGGAGGGGAGGA GGAGGGGGCAGGAGGAGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGG GGAGGAGGGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGGGGGA GGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGG AGGAGGCGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGGGGAGGAG GACGGGGAGGAGGAGGGGGAGGGGGAGGAGGACGGGGAGGAGGAGGGGGA GGGGGAGGAGGAGGGGGAGGAGGAGGAGTGGGGAGGAGGAGGGGGCAGGA GGAGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGGAGGAGGGGGGA GGAGGAGGG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	115	0.0087	458	c.305 others(479): Show c.3052+23957_3052+23958insCTGGGAGGAGGAGGAGTGGGAGGA GGAGGGGGGAGGAGGCGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAG GGGGAGGAGGAGGGGGAGGGGAGGAGGAGGGGGCAGGAGGAGGAGTGGGA GGTGGAGGGGGTAGGAGGAGGAGGGGGAGGAGGGGGGAGGAGGAGGAGGG GGAGGAGGAGGGGGAGGAGGGGGGAGGAGGAGGAGGGGGAGGAGGAGGGG GAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGCGGAGGGGGAGGAGGAGGG GGAGGAGGAGGGGGAGGGGGAGGAGGACGGGGAGGAGGAGGGGGAGGGGG AGGAGGACGGGGAGGAGGAGGGGGAGGGGGAGGAGGAGGGGGAGGAGGAG GAGTGGGGAGGAGGAGGGGGCAGGAGGAGGAGTGGGAGGTGGAGGGGGTA GGAGGAGGAGGGGGAGGAGGGGGGAGGAGGAGGG	PCDH11Y	ENSG00000099715.15	transcript	ENST00000698851.1	protein_coding	4/5			chrY	TogoVar
PCDH11Y_chrY_4995296_5747224	5525214	T T	TGGGAGGA others(451): Show TGGGAGGAGGAGGAGTGGGAGAAGGAGGGGGGAGGAGGCGGAGGGGGAGG AGGAGGGGGAGGAGGAGGGGGAGGGGGAGGAGGAGGGGGAGGGGAGGAGG AGGGGGCAGGAGGAGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGG AGGAGGGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGGGGGAGG AGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAG GAGGCGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGGGGAGGAGGA CGGGGAGGAGGAGGGGGAGGGGGAGGAGGACGGGGAGGAGGAGGGGGAGG GGGAGGAGGAGGGGGAGGAGGAGGAGTGGGGAGGAGGAGGGGGCAGGAGG AGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGGAGGAGGGGGGAGG AGGAGGAGG	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01515.hp1 HG01934.hp1 others(2): Show HG01358.hp1 HG01515.hp1 HG01934.hp1 HG01943.hp1 NA20752.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0032 a0002c0002t0002g0040 a0002c0002t0002g0044 others(2): Show a0002c0002t0002g0032 a0002c0002t0002g0040 a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0046	5	115	0.0435	458	c.305 others(479): Show c.3052+23979_3052+23980insAAGGAGGGGGGAGGAGGCGGAGGG GGAGGAGGAGGGGGAGGAGGAGGGGGAGGGGGAGGAGGAGGGGGAGGGGA GGAGGAGGGGGCAGGAGGAGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGA GGGGGAGGAGGGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGGG GGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGG GGGAGGAGGCGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGGGGAG GAGGACGGGGAGGAGGAGGGGGAGGGGGAGGAGGACGGGGAGGAGGAGGG GGAGGGGGAGGAGGAGGGGGAGGAGGAGGAGTGGGGAGGAGGAGGGGGCA GGAGGAGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGGAGGAGGGG GGAGGAGGAGGAGGGGGAGGAGGAGGAGTGGGAG	PCDH11Y	ENSG00000099715.15	transcript	ENST00000698851.1	protein_coding	4/5		INFO_REALIGN_3_PRIME	chrY	TogoVar
PCDH11Y_chrY_4995296_5747224	5525214	T T	TGGGAGGA others(451): Show TGGGAGGAGGAGGAGTGGGAGGAGGAGGGGGGAGGAGGCGGAGGGGGAGG AGGAGGGGGAGGAGGAGGGGGAGGGGGAGGAGGAGGGGGAGGGGAGGAGG AGGGGGCAGGAGGAGGAGTGGGAGGTGGAGGGCGTAGGAGGAGGAGGGGG AGGAGGGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGGGGGAGG AGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAG GAGGCGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGGGGAGGAGGA CGGGGAGGAGGAGGGGGAGGGGGAGGAGGACGGGGAGGAGGAGGGGGAGG GGGAGGAGGAGGGGGAGGAGGAGGAGTGGGGAGGAGGAGGGGGCAGGAGG AGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGGAGGAGGGGGGAGG AGGAGGAGG	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA18945.hp1 NA19086.hp1 HG02056.hp1 NA18945.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0052 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0052	3	115	0.0261	458	c.305 others(479): Show c.3052+23989_3052+23990insGAGGAGGCGGAGGGGGAGGAGGAG GGGGAGGAGGAGGGGGAGGGGGAGGAGGAGGGGGAGGGGAGGAGGAGGGG GCAGGAGGAGGAGTGGGAGGTGGAGGGCGTAGGAGGAGGAGGGGGAGGAG GGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGGGGGAGGAGGAG GAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGC GGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGGGGAGGAGGACGGGG AGGAGGAGGGGGAGGGGGAGGAGGACGGGGAGGAGGAGGGGGAGGGGGAG GAGGAGGGGGAGGAGGAGGAGTGGGGAGGAGGAGGGGGCAGGAGGAGGAG TGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGGAGGAGGGGGGAGGAGGAG GAGGGGGAGGAGGAGGAGTGGGAGGAGGAGGGGG	PCDH11Y	ENSG00000099715.15	transcript	ENST00000698851.1	protein_coding	4/5		INFO_REALIGN_3_PRIME	chrY	TogoVar
PCDH11Y_chrY_4995296_5747224	5525214	T T	TGGGAGGA others(451): Show TGGGAGGAGGAGGAGTGGGAGGAGGAGGGGGGAGGAGGCGGAGGGGGAGG AGGAGGGGGAGGAGGAGGGGGAGGGGGAGGAGGAGGGGGAGGGGAGGAGG AGGGGGCAGGAGGAGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGG AGGAGGGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGGGGGAGG AGGAGGAGGGGGAGGAGGAGGGGAAGGAGGAGGGGGAGGAGGAGGGGGAG GAGGCGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGGGGAGGAGGA CGGGGAGGAGGAGGGGGAGGGGGAGGAGGACGGGGAGGAGGAGGGGGAGG GGGAGGAGGAGGGGGAGGAGGAGGAGTGGGGAGGAGGAGGGGGCAGGAGG AGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGGAGGAGGGGGGAGG AGGAGGAGG	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	115	0.0087	458	c.305 others(479): Show c.3052+23989_3052+23990insGAGGAGGCGGAGGGGGAGGAGGAG GGGGAGGAGGAGGGGGAGGGGGAGGAGGAGGGGGAGGGGAGGAGGAGGGG GCAGGAGGAGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGGAGGAG GGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGGGGGAGGAGGAG GAGGGGGAGGAGGAGGGGAAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGC GGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGGGGAGGAGGACGGGG AGGAGGAGGGGGAGGGGGAGGAGGACGGGGAGGAGGAGGGGGAGGGGGAG GAGGAGGGGGAGGAGGAGGAGTGGGGAGGAGGAGGGGGCAGGAGGAGGAG TGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGGAGGAGGGGGGAGGAGGAG GAGGGGGAGGAGGAGGAGTGGGAGGAGGAGGGGG	PCDH11Y	ENSG00000099715.15	transcript	ENST00000698851.1	protein_coding	4/5		INFO_REALIGN_3_PRIME	chrY	TogoVar
PCDH11Y_chrY_4995296_5747224	5525214	T T	TGGGAGGA others(451): Show TGGGAGGAGGAGGAGTGGGAGGAGGAGGGGGGAGGAGGCGGAGGGGGAGG AGGAGGGGGAGGAGGAGGGGGAGGGGGAGGAGGAGGGGGAGGGGAGGAGG AGGGGGCAGGAGGAGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGG AGGAGGGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGGGGGAGG AGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAG GAGGCGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGGGGAGGAGGA CGGGGAGGAGGAGGGGGAGGGGGAGGAGGACGGGGAGGAGGAGGGGGAGG GGGAGGAGGAGCGGGAGGAGGAGGAGTGGGGAGGAGGAGGGGGCAGGAGG AGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGGAGGAGGGGGGAGG AGGAGGAGG	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18948.hp1 NA18967.hp1 others(3): Show NA18944.hp1 NA18948.hp1 NA18967.hp1 NA18983.hp1 NA18988.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0073 others(3): Show a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0079	6	115	0.0522	458	c.305 others(479): Show c.3052+23989_3052+23990insGAGGAGGCGGAGGGGGAGGAGGAG GGGGAGGAGGAGGGGGAGGGGGAGGAGGAGGGGGAGGGGAGGAGGAGGGG GCAGGAGGAGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGGAGGAG GGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGGGGGAGGAGGAG GAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGC GGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGGGGAGGAGGACGGGG AGGAGGAGGGGGAGGGGGAGGAGGACGGGGAGGAGGAGGGGGAGGGGGAG GAGGAGCGGGAGGAGGAGGAGTGGGGAGGAGGAGGGGGCAGGAGGAGGAG TGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGGAGGAGGGGGGAGGAGGAG GAGGGGGAGGAGGAGGAGTGGGAGGAGGAGGGGG	PCDH11Y	ENSG00000099715.15	transcript	ENST00000698851.1	protein_coding	4/5		INFO_REALIGN_3_PRIME	chrY	TogoVar
PCDH11Y_chrY_4995296_5747224	5525214	T T	TGGGAGGA others(451): Show TGGGAGGAGGAGGAGTGGGAGGAGGAGGGGGGAGGAGGCGGAGGGGGAGG AGGAGGGGGAGGAGGAGGGGGAGGGGGAGGAGGAGGGGGAGGGGAGGAGG AGGGGGCAGGAGGAGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGG AGGAGGGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGGGGGAGG AGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAG GAGGCGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGGGGAGGAGGA CGGGGAGGAGGAGGGGGAGGGGGAGGAGGACGGGGAGGAGGAGGGGGAGG GGGAGGAGGAGGGGGAGGAGGAGGAGTGGGGAGGAGGAGGGGGCAGGAGG AGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGGAGGAGGGGGGAGG AGGAGGAGG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00609.hp1 HG01069.hp1 others(37): Show HG00140.hp1 HG00609.hp1 HG01069.hp1 HG01106.hp1 HG01256.hp1 HG01258.hp1 HG01433.hp1 HG02015.hp1 HG02027.hp1 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02602.hp1 HG02647.hp1 HG02698.hp1 HG02735.hp1 HG02738.hp1 HG03490.hp1 HG03942.hp1 HG04204.hp1 HG04228.hp1 NA18952.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18970.hp1 NA18986.hp1 NA18990.hp1 NA18994.hp1 NA18995.hp1 NA19000.hp1 NA19004.hp1 NA19005.hp1 NA19009.hp1 NA19043.hp1 NA19060.hp1 NA19070.hp1 NA19088.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 a0002c0002t0002	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0009 others(37): Show a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0110 a0001c0001t0005g0055 a0001c0001t0005g0056 a0001c0001t0008g0034 a0002c0002t0002g0010 a0002c0002t0002g0027 a0002c0002t0002g0028 a0002c0002t0002g0030 a0002c0002t0002g0031	40	115	0.3478	458	c.305 others(479): Show c.3052+23989_3052+23990insGAGGAGGCGGAGGGGGAGGAGGAG GGGGAGGAGGAGGGGGAGGGGGAGGAGGAGGGGGAGGGGAGGAGGAGGGG GCAGGAGGAGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGGAGGAG GGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGGGGGAGGAGGAG GAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGC GGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGGGGAGGAGGACGGGG AGGAGGAGGGGGAGGGGGAGGAGGACGGGGAGGAGGAGGGGGAGGGGGAG GAGGAGGGGGAGGAGGAGGAGTGGGGAGGAGGAGGGGGCAGGAGGAGGAG TGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGGAGGAGGGGGGAGGAGGAG GAGGGGGAGGAGGAGGAGTGGGAGGAGGAGGGGG	PCDH11Y	ENSG00000099715.15	transcript	ENST00000698851.1	protein_coding	4/5		INFO_REALIGN_3_PRIME	chrY	TogoVar
PCDH11Y_chrY_4995296_5747224	5525214	T T	TGGGAGGA others(451): Show TGGGAGGAGGAGGAGTGGGAGGAGGAGGGGGGAGGAGGCGGAGGGGGAGG AGGAGGGGGAGGAGGAGGGGGAGGGGGAGGAGGAGGGGGAGGGGAGGAGG AGGGGGCAGGAGGAGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGG AGGAGGGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGGGGGAGG AGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAG GAGGCGGAGGGGGAGGAGGAGGGGGAGGGGGAGGGGGAGGGGGAGGAGGA CGGGGAGGAGGAGGGGGAGGGGGAGGAGGACGGGGAGGAGGAGGGGGAGG GGGAGGAGGAGGGGGAGGAGGAGGAGTGGGGAGGAGGAGGGGGCAGGAGG AGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGGAGGAGGGGGGAGG AGGAGGAGG	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA19079.hp1 NA18612.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0088 a0001c0001t0003g0090 a0001c0001t0003g0088 a0001c0001t0003g0090	2	115	0.0174	458	c.305 others(479): Show c.3052+23989_3052+23990insGAGGAGGCGGAGGGGGAGGAGGAG GGGGAGGAGGAGGGGGAGGGGGAGGAGGAGGGGGAGGGGAGGAGGAGGGG GCAGGAGGAGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGGAGGAG GGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGGGGGAGGAGGAG GAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGC GGAGGGGGAGGAGGAGGGGGAGGGGGAGGGGGAGGGGGAGGAGGACGGGG AGGAGGAGGGGGAGGGGGAGGAGGACGGGGAGGAGGAGGGGGAGGGGGAG GAGGAGGGGGAGGAGGAGGAGTGGGGAGGAGGAGGGGGCAGGAGGAGGAG TGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGGAGGAGGGGGGAGGAGGAG GAGGGGGAGGAGGAGGAGTGGGAGGAGGAGGGGG	PCDH11Y	ENSG00000099715.15	transcript	ENST00000698851.1	protein_coding	4/5		INFO_REALIGN_3_PRIME	chrY	TogoVar
PCGF3_chr4_700832_775089	744755	G G	GCCCCGGG others(451): Show GCCCCGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGT GGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTG AGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGG AGGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGCT CGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGT TAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCT GCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGG GGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGG GCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGT GGGCGGGGC	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0056 a0001c0003t0056	a0001c0003t0056g0314 a0001c0003t0056g0314	1	366	0.0027	458	c.462 others(471): Show c.462+70_462+71insCGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGG AGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTC TCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTT AGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCT GCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGG GGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGG GCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGT GGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTG AGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGG AGGCGTGAGCAGGTGGGCGGGGCCCC	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCSK5_chr9_75885673_76367975	76063865	G G	GTGGCCGG others(451): Show GTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCAGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGAC CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCCGAC ACCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCAGAGGGGCTCCT CTCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAAG GGGGGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGACGGGGGCCGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGA CGGGGCGGC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01123.hp2 HG01243.hp2 others(12): Show HG01106.hp2 HG01123.hp2 HG01243.hp2 HG01358.hp2 HG01496.hp2 HG02258.hp2 HG02572.hp2 HG02717.hp2 HG02723.hp1 HG02895.hp2 HG02897.hp1 HG03130.hp2 HG03486.hp1 HG04199.hp2 NA21309.hp1	a0001 a0002 a0004 others(10): Show a0001 a0002 a0004 a0007 a0008 a0010 a0015 a0022 a0023 a0027 a0031 a0033 a0035	a0001c0001 a0001c0013 a0002c0016 others(11): Show a0001c0001 a0001c0013 a0002c0016 a0004c0070 a0007c0015 a0008c0003 a0010c0007 a0015c0023 a0022c0028 a0023c0024 a0027c0027 a0031c0073 a0033c0055 a0035c0068	a0001c0001t0002 a0001c0013t0023 a0002c0016t0020 others(11): Show a0001c0001t0002 a0001c0013t0023 a0002c0016t0020 a0004c0070t0042 a0007c0015t0003 a0008c0003t0001 a0010c0007t0034 a0015c0023t0004 a0022c0028t0061 a0023c0024t0004 a0027c0027t0005 a0031c0073t0031 a0033c0055t0010 a0035c0068t0001	a0001c0001t0002g0097 a0001c0013t0023g0137 a0002c0016t0020g0057 others(12): Show a0001c0001t0002g0097 a0001c0013t0023g0137 a0002c0016t0020g0057 a0004c0070t0042g0050 a0007c0015t0003g0049 a0008c0003t0001g0145 a0010c0007t0034g0096 a0015c0023t0004g0005 a0022c0028t0061g0044 a0023c0024t0004g0071 a0023c0024t0004g0072 a0027c0027t0005g0013 a0031c0073t0031g0108 a0033c0055t0010g0002 a0035c0068t0001g0069	15	166	0.0904	458	c.633 others(475): Show c.633-4052_633-4051insGGCCAGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGTCGGGCGGGGGGCCGACACCCCCACCTCCCTCCC GGACGGGGTGGCTGGCCGGGCAGAGGGGCTCCTCTCTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCCGGAAGGGGGGGCTGGCCGGGCA GGGGGGCTGACCCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGACGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGC	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	5/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCSK5_chr9_75885673_76367975	76063865	G G	GTGGCCGG others(451): Show GTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCAGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGAC CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCCGAC ACCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCAGAGGGGCTCCT CTCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAAG GGGGGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGACGGGGGCCGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGA CGGGGCGGC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0018 a0018	a0018c0069 a0018c0069	a0018c0069t0003 a0018c0069t0003	a0018c0069t0003g0063 a0018c0069t0003g0063	1	166	0.0060	458	c.633 others(475): Show c.633-4052_633-4051insGGCCAGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGTCGGGCGGGGGGCCGACACCCCCACCTCCCTCCC GGACGGGGTGGCTGGCCGGGCAGAGGGGCTCCTCTCTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCCGGAAGGGGGGGCTGGCCGGGCA GGGGGGCTGACCCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGACGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGC	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	5/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCSK5_chr9_75885673_76367975	76063865	G G	GTGGCCGG others(451): Show GTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCAGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGAC CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCCGAC ACCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCAGAGGGGCTCCT CTCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAAG GGGGGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGACGGGGGCCGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCTGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGA CGGGGCGGC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0020 a0020	a0020c0030 a0020c0030	a0020c0030t0022 a0020c0030t0022	a0020c0030t0022g0128 a0020c0030t0022g0128	1	166	0.0060	458	c.633 others(475): Show c.633-4052_633-4051insGGCCAGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGTCGGGCGGGGGGCCGACACCCCCACCTCCCTCCC GGACGGGGTGGCTGGCCGGGCAGAGGGGCTCCTCTCTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCCGGAAGGGGGGGCTGGCCGGGCA GGGGGGCTGACCCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGACGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTG GGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGC	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	5/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PDCD6_chr5_266646_319974	318187	A A	ACCCTGCA others(451): Show ACCCTGCACCTCCCCCATCCTTCACCTCCCCCACTCACCCTCCACCTCCC CCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCA CCTCCCCCATCCTTCACCTCCCCTCTCACCCTCCACCTCCCCCACTCACC CTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCC CTCACCCTGCACCTCCCCCATCCTTCACCTCCCCTCTCACCCTCCACCTC CCCCACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTG CACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCAC CCTCCATCTGCCCCCAACCCTGCACCTCCCCCAATCCTTCACCTCCCCCC TCCCTTCATCTCCCCCCTCACCCTCCACCTCCCCCCCGCACCCTGCACCT CCCACCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0094 a0001c0002t0001g0094	1	360	0.0028	458	c.36 others(469): Show c.3672_*3673insCCCTGCACCTCCCCCATCCTTCACCTCCCCCACT CACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCC CGCCCTCACCCTGCACCTCCCCCATCCTTCACCTCCCCTCTCACCCTCCA CCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCC CCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCATCCTTCACCTCCCCT CTCACCCTCCACCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCAC CTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCC TTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCAAT CCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTCCCCC CCGCACCCTGCACCTCCCACCCTT	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3214		chr5	TogoVar
PIEZO1_chr16_88710338_88790220	88713173	C C	CCCCCCTT others(451): Show CCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCT TCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCTTCCCCGGG CCCTGACCCCCACTCATACCCGAGAGCCCCCTTCCCCGGGCCCTGACCCC CACTCATACCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATG CCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAG AGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTT CCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCTTCCCCGGGC CCTGACCCCCACTCATACCCGAGAGCCCCCTTCCCCGGGCCCTGACCCCC ACTCATACCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATGC CCCTGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0011 a0011	a0011c0035 a0011c0035	a0011c0035t0001 a0011c0035t0001	a0011c0035t0001g0182 a0011c0035t0001g0182	1	282	0.0036	458	c.24 others(469): Show c.2431_*2432insCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGGG GAAGGGGGCTCTCAGGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGG CTCTCGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGCTCTCAGGGG CATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCGGGTATGAGTGG GGGTCAGGGCCCGGGGAAGGGGGCTCTCAGGGGTATGAGTGGGGGTCAGG GCCCGGGGAAGGGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGGGG AAGGGGGCTCTCAGGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGC TCTCGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGCTCTCAGGGGC ATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCAGGGGTATGAGTG GGGGTCAGGGCCCGGGGAAGGGGG	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding		2164		chr16	TogoVar
PIMREG_chr17_6439455_6456469	6455724	G G	GAGGGGAG others(451): Show GAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGGGAGGGGAGGGGG AAGAGGGGAGGGGAGGGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAGGG GAGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGGGAG GGGAGGGGGAAGAGGGGAGGGGAGGAGATGGGAGGGGGAAGAGGGGAAGG GAGGGGAGGGGGAATAGGGGAGGGGAGAGGAGGGAAGAGGGAAGAGGGGA GGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGG GGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGG AGGGGGAAGAGGGGAAGGGAGGGGAGGGAGAAGAGGAAGGGAGGGGAGGG GGAAGAGGGGAAGGGGGAAGGGGAGAGGAGGGAAGGGGGAAGAGGGGATG GGAGGGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0057 a0001c0001t0006g0057	1	312	0.0032	458	c.53 others(469): Show c.5377_*5378insAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGGA GGGGAGGGGAGGGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAGGGGAGG GGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGGGG AAGAGGGGAGGGGAGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGGGAGG GGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAGGGA AGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGA AGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAG AGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGAGAAGAG GAAGGGAGGGGAGGGGGAAGAGGGGAAGGGGGAAGGGGAGAGGAGGGAAG GGGGAAGAGGGGATGGGAGGGGAA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4256		chr17	TogoVar
PLEKHG4B_chr5_87168_194966	92369	G G	GGCGCGGG others(451): Show GGCGCGGGGGTAGGGGCGGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGG GGCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGG GCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGG CGCGAGCGGACGCGGGAGTAGGGGCGGGTGGGGGCGCCGGGGTAGGGGCG GGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCGGGGGTAGGGGTGG GGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGG GTGGGGGCGCGAGCGGACGCGGGAGTAGGGGCGGGTGGGGGCGCCGGGGT AGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCCGGGGTA GGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCGGGGGTAG GGGTGGGGT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0048 a0001c0011t0048	a0001c0011t0048g0179 a0001c0011t0048g0179	1	210	0.0048	458	c.45+ others(469): Show c.45+94_45+95insCGCGGGGGTAGGGGCGGGGTGGGGGCGCGGGGGT AGGGGTGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTA GGGGTGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTAG GGGTGGGGTGGGGGCGCGAGCGGACGCGGGAGTAGGGGCGGGTGGGGGCG CCGGGGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGC GGGGGTAGGGGTGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGGCGCG GGGGTAGGGGTGGGGTGGGGGCGCGAGCGGACGCGGGAGTAGGGGCGGGT GGGGGCGCCGGGGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTG GGGGCGCCGGGGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGG GGGCGCGGGGGTAGGGGTGGGGTG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PRKCB_chr16_23830983_24225611	24109274	C C	CGGGCGGG others(451): Show CGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCGCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCA CCCATCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCC CCACCTCCCTTCCGGACGGGGCGGCTGGCCGGGCGAGGGGCTGATCCCCC CCACCTCCCTCCAAGATGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCC CCCACCTCCCTCCCGGATGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGTGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGG CGGCTGGCCTGGCGGGGGGGCTGACCCCCCTACCTCCCTCCCGGATGGGG CGGCTGGTG	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0050 a0001c0002t0050	a0001c0002t0050g0008 a0001c0002t0050g0008	1	148	0.0068	458	c.822 others(475): Show c.822-3678_822-3677insCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCGCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCA CCCATCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCC CCACCTCCCTTCCGGACGGGGCGGCTGGCCGGGCGAGGGGCTGATCCCCC CCACCTCCCTCCAAGATGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCC CCCACCTCCCTCCCGGATGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGTGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGG CGGCTGGCCTGGCGGGGGGGCTGACCCCCCTACCTCCCTCCCGGATGGGG CGGCTGGTGGGGCGGGGGGCTGACCCCCCC	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PWWP2B_chr10_132392200_132422859	132392564	G G	GTGATGAT others(451): Show GTGATGATGGTGATGGTGATGATGGTGATGGTGGTGATGATGGTGATGGT GGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGA TGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGGTAGTGGTGATG GGGGTGGTGGTAATGATGATGGTGATGGTGATGATGGTGATGATGATGGT GGTGGTGGTGATAATGGTGATGGTGGTGATGGTGGTGGTAATGGTGATGG TGATGATGGTGATGGTGATGATGGTGATGTGATAATGGTGATGGTGATGG TAGTGGTGATGGGGGTGGTGGTAATGGTGATGATGGTGATGGTGATGGTG GTGGTGGTGATAATGGTGATGGTGATGGTGGTGGTGGTAATGGTGATGGT GATGATGGTGATGGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGG TGGTGGTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0051 a0001c0011t0001g0051	1	374	0.0027	458	c.-46 others(469): Show c.-4663_-4662insTGATGATGGTGATGGTGATGATGGTGATGGTGGT GATGATGGTGATGGTGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGA TGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTG ATGGTAGTGGTGATGGGGGTGGTGGTAATGATGATGGTGATGGTGATGAT GGTGATGATGATGGTGGTGGTGGTGATAATGGTGATGGTGGTGATGGTGG TGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGTGATAA TGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGGTGATGATG GTGATGGTGATGGTGGTGGTGGTGATAATGGTGATGGTGATGGTGGTGGT GGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGG TAGTGGTGATGGGGGTGGTGGTAA	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding		4635		chr10	TogoVar
PWWP2B_chr10_132392200_132422859	132392564	G G	GTGATGAT others(451): Show GTGATGATGGTGATGGTGATGATGGTGGTGGTGGTGATAATGGTGATGGT GGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGA TGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGGTAGTGGTGATG GGGGTGGTGGTAATGATGATGGTGATGGTGATGATGGTGATGATGATGGT GGTGGTGGTGATAATGGTGATGGTGGTGATGGTGGTGGTAATGGTGATGG TGATGATGGTGATGGTGATGATGGTGATGTGATAATGGTGATGGTGATGG TAGTGGTGATGGGGGTGGTGGTAATGGTGATGATGGTGATGGTGATGGTG GTGGTGGTGATAATGGTGATGGTGATGGTGGTGGTGGTAATGGTGATGGT GATGATGGTGATGGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGG TGGTGGTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00621.hp2 HG00735.hp1 others(46): Show HG00438.hp2 HG00621.hp2 HG00735.hp1 HG00738.hp2 HG01074.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01255.hp2 HG01496.hp1 HG01928.hp1 HG01943.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02055.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp2 HG02155.hp2 HG02165.hp2 HG02293.hp2 HG02698.hp2 HG02735.hp1 HG02965.hp1 HG03195.hp2 HG03239.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 NA18612.hp2 NA18941.hp2 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp2 NA18951.hp1 NA18955.hp2 NA18963.hp1 NA18965.hp2 NA18967.hp1 NA18990.hp2 NA19009.hp1 NA19066.hp2 NA19068.hp1 NA19090.hp2 NA19091.hp1 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0007 a0009	a0001c0001 a0002c0002 a0002c0003 others(5): Show a0001c0001 a0002c0002 a0002c0003 a0003c0005 a0003c0008 a0003c0013 a0007c0015 a0009c0017	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(7): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0008 a0002c0003t0001 a0003c0005t0001 a0003c0008t0001 a0003c0013t0001 a0007c0015t0001 a0009c0017t0002	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0010 others(28): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0033 a0001c0001t0001g0118 a0001c0001t0001g0157 a0001c0001t0001g0213 a0002c0002t0001g0001 a0002c0002t0001g0003 a0002c0002t0001g0029 a0002c0002t0001g0038 a0002c0002t0001g0110 a0002c0002t0001g0142 a0002c0002t0001g0145 a0002c0002t0001g0151 a0002c0002t0001g0156 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0214 a0002c0002t0001g0243 a0002c0002t0002g0001 a0002c0002t0008g0003 a0002c0003t0001g0016 a0003c0005t0001g0136 a0003c0005t0001g0141 a0003c0008t0001g0027 a0003c0008t0001g0061 a0003c0008t0001g0115 a0003c0013t0001g0196 a0007c0015t0001g0144 a0009c0017t0002g0001	49	374	0.1310	458	c.-46 others(469): Show c.-4663_-4662insTGATGATGGTGATGGTGATGATGGTGGTGGTGGT GATAATGGTGATGGTGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGA TGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTG ATGGTAGTGGTGATGGGGGTGGTGGTAATGATGATGGTGATGGTGATGAT GGTGATGATGATGGTGGTGGTGGTGATAATGGTGATGGTGGTGATGGTGG TGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGTGATAA TGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGGTGATGATG GTGATGGTGATGGTGGTGGTGGTGATAATGGTGATGGTGATGGTGGTGGT GGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGG TAGTGGTGATGGGGGTGGTGGTAA	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding		4635		chr10	TogoVar
RAP1GAP2_chr17_2791438_3042741	2831065	T T	TCCTTCCC others(451): Show TCCTTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCCTCCCTTCCCCTCCCC TCCTTCCCCTCCTCCCCTCCCTTCCTTCCCCTCTCCTTCCTTCCCTCCCC TCCCCTTCCCTCCCTTTCCCTCCCCTCCCTTCCCCTCCCCTCCCCTTCCC TCCCTTCCCCTCCCCTCCTCTCCCCTCCCTCCCCTCCCCTTTTCTCCCTT CCCCTCCCATCCCCTACACTTCCCTCCCCTCCCCTTCCCTACACTTCCGT CCCCTCCCCTTCCCTACACTTCCCTTCCCTCCCCTCCCCTCCCTTTCCCT CCTCTTCCCTCCCCTCCCTTCCCGTCCCCTTCCCTCCCTTCCCCTCCCCC CACCCTCCCTTCCCCTCCCTTCTTCTCTCCCCCCTCCCCTCCCTTCCCTC CCTTCCCCTCCCCTCCCCTCCCTTTCCCTCCCCTCCCCTCCCCCTCCCTT CCCATCCCC	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0090 a0001c0002t0090	a0001c0002t0090g0168 a0001c0002t0090g0168	1	218	0.0046	458	c.80+ others(475): Show c.80+30515_80+30516insCCTTCCCCTCCCCTTCCCTCCCTTCCCC TCCCCCTCCCTTCCCCTCCCCTCCTTCCCCTCCTCCCCTCCCTTCCTTCC CCTCTCCTTCCTTCCCTCCCCTCCCCTTCCCTCCCTTTCCCTCCCCTCCC TTCCCCTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCTCTCCCCTCCC TCCCCTCCCCTTTTCTCCCTTCCCCTCCCATCCCCTACACTTCCCTCCCC TCCCCTTCCCTACACTTCCGTCCCCTCCCCTTCCCTACACTTCCCTTCCC TCCCCTCCCCTCCCTTTCCCTCCTCTTCCCTCCCCTCCCTTCCCGTCCCC TTCCCTCCCTTCCCCTCCCCCCACCCTCCCTTCCCCTCCCTTCTTCTCTC CCCCCTCCCCTCCCTTCCCTCCCTTCCCCTCCCCTCCCCTCCCTTTCCCT CCCCTCCCCTCCCCCTCCCTTCCCATCCCC	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	2/24			chr17	TogoVar
RASA3_chr13_113972783_114137623	114120293	T T	TCTCTCCA others(451): Show TCTCTCCAGCCAGGCGTCGATCAAGTCCCCCCCTTCTCTCCAGCCAGACG TCGATCAGGGCCCCCCTCCCCTCTCCAGCCAGACGTCGATCAGGGCCCCC CTCCCCTCTCCAGCCAGGCGTCGATCAGGGCCCCCCCTCCCTCTCTCCAG CCAGACGTCGATCAGGGCCCCCCCTCCCCTCTCCAGCCTGGCGTCGATCA GGGCCCCCCTCCCCTCTCCAGCCAGGCGTCGATCAGGGCCCCTCCCTCTC TCCAGCCAGGCGTCGATCAAGTCCCCCCCTTCTCTCCAGCCAGGCGTCGA TCAGGGCCCCCCCTCCCTCTCTCCAGCCAGGCGTCGATCAGGGCCCCCCC TCCCTCTCTCCAGCCAGGCGTCGATCAGCGCCCCCCTCCCCTCTCCAGCC AGGCGTCGATCAGGGCCCCTCCCTCTCTCCAGCCAGGCGTCGATCAGGGC CCCCCTCCC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0029 a0002c0004t0004g0029	1	67	0.0149	458	c.55+ others(475): Show c.55+12141_55+12142insGGGAGGGGGGCCCTGATCGACGCCTGGC TGGAGAGAGGGAGGGGCCCTGATCGACGCCTGGCTGGAGAGGGGAGGGGG GCGCTGATCGACGCCTGGCTGGAGAGAGGGAGGGGGGGCCCTGATCGACG CCTGGCTGGAGAGAGGGAGGGGGGGCCCTGATCGACGCCTGGCTGGAGAG AAGGGGGGGACTTGATCGACGCCTGGCTGGAGAGAGGGAGGGGCCCTGAT CGACGCCTGGCTGGAGAGGGGAGGGGGGCCCTGATCGACGCCAGGCTGGA GAGGGGAGGGGGGGCCCTGATCGACGTCTGGCTGGAGAGAGGGAGGGGGG GCCCTGATCGACGCCTGGCTGGAGAGGGGAGGGGGGCCCTGATCGACGTC TGGCTGGAGAGGGGAGGGGGGCCCTGATCGACGTCTGGCTGGAGAGAAGG GGGGGACTTGATCGACGCCTGGCTGGAGAG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RNF17_chr13_24759169_24884921	24881925	G G	GATATATA others(451): Show GATATATAGATGCATCTATATAGATATATAGATGCATCTATATAGATATA TAATCTATATAGATGATATATAGATACATCTATATAGATATATAGATACA TCTATATAGATATATAGATACATCTATATAGATACATCTATATATAGATA CATCTATATATAGATACATCTATATATAGATACATCTATATATAGATACA TCTATATATAGATACATCTATATATAGATACATCTATATATAGATACATC TATATATAGATACATCTATATATAGATACATCTATATATAGATACATCTA TATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATA TATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATA TAGATACATCTATATATAGATACATCTATATATAGATACATCTATATATA GATACATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	426	0.0024	458	c.21 others(469): Show c.2199_*2200insATATATAGATGCATCTATATAGATATATAGATGC ATCTATATAGATATATAATCTATATAGATGATATATAGATACATCTATAT AGATATATAGATACATCTATATAGATATATAGATACATCTATATAGATAC ATCTATATATAGATACATCTATATATAGATACATCTATATATAGATACAT CTATATATAGATACATCTATATATAGATACATCTATATATAGATACATCT ATATATAGATACATCTATATATAGATACATCTATATATAGATACATCTAT ATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATAT ATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATAT AGATACATCTATATATAGATACATCTATATATAGATACATCTATATATAG ATACATCTATATATAGATACATCT	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2005		chr13	TogoVar
RPA3_chr7_7631518_7723607	7679092	T T	TATAAATA others(451): Show TATAAATATATATTTACATATTTAGTTTATAAATATATATTTATTTAGTT TATAAATATATATTTACATATTTAGTTTATAAATATATATTTATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTACATATTT AGTTTATAAATACATATTTATATATTTAGTTTATAAATACATATTTATAT ATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAAT ATATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAAT TTATAGATAAATATATATTTATATATTTAATTTATAGATAAATATATTTA TATATTTAATTTATAGATAAATATATATTTATATATTTAGTTTATAGATA AATATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTT AGTTTATAG	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	308	0.0033	458	c.-75 others(477): Show c.-758+6737_-758+6738insCTATAAACTAAATATATAAATATATA TTTATCTATAAACTAAATATATAAATATATATTTATCTATAAACTAAATA TATAAATATATATTTATCTATAAATTAAATATATAAATATATTTATCTAT AAATTAAATATATAAATATATATTTATCTATAAATTAAATATATAAATAT ATATTTATCTATAAATTAAATATATAAATATATATTTATCTATAAATTAA ATATATAAATATATATTTATCTATAAATTAAATATATAAATATGTATTTA TAAACTAAATATATAAATATGTATTTATAAACTAAATATGTAAATATGTA TTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATAAATATATA TTTATAAACTAAATATGTAAATATATATTTATAAACTAAATAAATATATA TTTATAAACTAAATATGTAAATATATATTTAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
SATL1_chrX_85087284_85248779	85088046	G G	GTATTTAT others(451): Show GTATTTATACATATATGTATAAATACGTATTAATACATATATGTATAAAT ACGTATTAATACATATATGTATAAATACATACATATTTATACATATATGT ATACATACATATTTATACATATATATGTATAAATACATACATATTTATAC ATATATATGTATAAATACATACATATTTATACATATATATGTATAAATAC ATACATATTTATACATATATATGTATAAATACGTACATATTTATACATAT ATATGTATAAATACGTACATATTTATACATATATATGTATAAATACGTAC ATATTTATACATATATATGTATAAATACGTACATATTTATACATATATAT GTATAAATACGTACATATTTATACATATATGTATAAATACGTACATATTT ATACATATATGTATAAATACATATACATATTTATACATATATGTATAAAT ACATATACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01081.hp2 HG01168.hp1 HG01074.hp1 HG01081.hp2 HG01168.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0149 a0002c0002t0001g0155 a0002c0002t0002g0025 a0002c0002t0001g0149 a0002c0002t0001g0155 a0002c0002t0002g0025	3	232	0.0129	458	c.43 others(469): Show c.4344_*4345insTGTATATGTATTTATACATATATGTATAAATATG TATATGTATTTATACATATATGTATAAATATGTACGTATTTATACATATA TGTATAAATATGTACGTATTTATACATATATATGTATAAATATGTACGTA TTTATACATATATATGTATAAATATGTACGTATTTATACATATATATGTA TAAATATGTACGTATTTATACATATATATGTATAAATATGTACGTATTTA TACATATATATGTATAAATATGTATGTATTTATACATATATATGTATAAA TATGTATGTATTTATACATATATATGTATAAATATGTATGTATTTATACA TATATATGTATAAATATGTATGTATACATATATGTATAAATATGTATGTA TTTATACATATATGTATTAATACGTATTTATACATATATGTATTAATACG TATTTATACATATATGTATAAATA	SATL1	ENSG00000184788.14	transcript	ENST00000644105.2	protein_coding		4237		chrX	TogoVar
SATL1_chrX_85087284_85248779	85088046	G G	GTATTTAT others(451): Show GTATTTATACATATATGTATAAATACGTATTAATACATATATGTATAAAT ACGTATTAATACATATATGTATAAATACATACATATTTATACATATATGT ATACATACATATTTATACATATATATGTATAAATACATACATATTTATAC ATATATATGTATAAATACGTACATATTTATACATATATATGTATAAATAC GTACATATTTATACATATATATGTATAAATACGTACATATTTATACATAT ATATGTATAAATACGTACATATTTATACATATATATGTATAAATACGTAC ATATTTATACATATATATGTATAAATACGTACATATTTATACATATATAT GTATAAATACGTACATATTTATACATATATGTATAAATACGTACATATTT ATACATATATGTATAAATACATATACATATTTATACATATATGTATAAAT ACATATACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19070.hp1 homoSapiens_chm13v2.hp1 NA19070.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0113 a0002c0002t0002g0029 a0002c0002t0001g0113 a0002c0002t0002g0029	2	232	0.0086	458	c.43 others(469): Show c.4344_*4345insTGTATATGTATTTATACATATATGTATAAATATG TATATGTATTTATACATATATGTATAAATATGTACGTATTTATACATATA TGTATAAATATGTACGTATTTATACATATATATGTATAAATATGTACGTA TTTATACATATATATGTATAAATATGTACGTATTTATACATATATATGTA TAAATATGTACGTATTTATACATATATATGTATAAATATGTACGTATTTA TACATATATATGTATAAATATGTACGTATTTATACATATATATGTATAAA TATGTACGTATTTATACATATATATGTATAAATATGTATGTATTTATACA TATATATGTATAAATATGTATGTATACATATATGTATAAATATGTATGTA TTTATACATATATGTATTAATACGTATTTATACATATATGTATTAATACG TATTTATACATATATGTATAAATA	SATL1	ENSG00000184788.14	transcript	ENST00000644105.2	protein_coding		4237		chrX	TogoVar
SATL1_chrX_85087284_85248779	85088071	C C	CGTATTAA others(451): Show CGTATTAATACATATATGTATAAATACGTATTAATACATATATGTATAAA TACATACATATTTATACATATATGTATACATACATATTTATACATATATA TGTATAAATACATACATATTTATACATATATATGTATAAATACATACATA TTTATACATATATATGTATAAATACGTACATATTTATACATATATATGTA TAAATACGTACATATTTATACATATATATGTATAAATACGTACATATTTA TACATATATATGTATAAATACGTACATATTTATACATATATATGTATAAA TACGTACATATTTATACATATATATGTATAAATACGTACATATTTATACA TATATGTATAAATACGTACATATTTATACATATATGTATAAATACATATA CATATTTATACATATATGTATAAATACATATACATATATGTATAAATACA TATACATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0144 a0002c0002t0001g0144	1	232	0.0043	458	c.43 others(469): Show c.4319_*4320insATATGTATATGTATTTATACATATATGTATATGT ATTTATACATATATGTATAAATATGTATATGTATTTATACATATATGTAT AAATATGTACGTATTTATACATATATGTATAAATATGTACGTATTTATAC ATATATATGTATAAATATGTACGTATTTATACATATATATGTATAAATAT GTACGTATTTATACATATATATGTATAAATATGTACGTATTTATACATAT ATATGTATAAATATGTACGTATTTATACATATATATGTATAAATATGTAC GTATTTATACATATATATGTATAAATATGTATGTATTTATACATATATAT GTATAAATATGTATGTATTTATACATATATATGTATAAATATGTATGTAT ACATATATGTATAAATATGTATGTATTTATACATATATGTATTAATACGT ATTTATACATATATGTATTAATAC	SATL1	ENSG00000184788.14	transcript	ENST00000644105.2	protein_coding		4212		chrX	TogoVar
SCNN1D_chr1_1275436_1297025	1290128	C C	CCGTGTCT others(451): Show CCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCC CGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0010 a0010	a0010c0019 a0010c0019	a0010c0019t0003 a0010c0019t0003	a0010c0019t0003g0170 a0010c0019t0003g0170	1	290	0.0035	458	c.166 others(475): Show c.1663-142_1663-141insGTGTCTCTGCCCCGTCCCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SEMA4D_chr9_89372235_89503113	89462954	G G	GGGAGGGG others(451): Show GGGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGA GCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAG GGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGG GGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGC GAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGC GAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGG GAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGG AGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGA GGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGA GCGAGGGGA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0037 a0001c0003t0003g0037	1	370	0.0027	458	c.-30 others(477): Show c.-309-7002_-309-7001insTCCCCTCGCTCGCTCCCCTCCCCTCG CTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCC CTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCC TCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCT CCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCT CGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCT CGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTC CCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCC CCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCG CTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCC	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	1/15			chr9	TogoVar
SENP7_chr3_101319205_101518212	101439806	C C	CGTCCGGG others(451): Show CGTCCGGGAGGGAGGTGGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCG CCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAA GTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGG GGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGG GGTCAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGC CTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCA GCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCAGCC AGCCGCCCT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0057 a0002c0002t0003g0057	1	370	0.0027	458	c.284 others(477): Show c.284+19148_284+19149insAGGGCGGCTGGCTGGGCGGGGGGGCT GACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG GACAGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCT GGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGG ATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGG GGGCCGACCCCCCCCCCACCTCCCTCCCGGAC	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	4/23			chr3	TogoVar
SENP7_chr3_101319205_101518212	101439806	C C	CGTCCGGG others(451): Show CGTCCGGGAGGGAGGTGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGC CCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAG TGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGG GGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGG GTCAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCCGCCCAGCC AGCCGCCCT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01175.hp1 HG01257.hp1 others(46): Show HG00673.hp2 HG01175.hp1 HG01257.hp1 HG01258.hp1 HG01358.hp1 HG01975.hp2 HG02027.hp2 HG02040.hp2 HG02071.hp1 HG02129.hp2 HG02155.hp1 HG03491.hp1 HG04115.hp2 NA18747.hp2 NA18939.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18946.hp1 NA18950.hp1 NA18954.hp2 NA18955.hp2 NA18965.hp1 NA18971.hp1 NA18974.hp1 NA18975.hp1 NA18978.hp1 NA18982.hp1 NA18988.hp1 NA18989.hp2 NA18991.hp1 NA18993.hp2 NA18995.hp2 NA18998.hp1 NA18999.hp2 NA19004.hp2 NA19005.hp1 NA19012.hp1 NA19060.hp1 NA19066.hp2 NA19068.hp1 NA19074.hp2 NA19075.hp2 NA19079.hp2 NA19081.hp2 NA19085.hp1 NA19091.hp1 NA20752.hp2 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0011 a0002c0002t0003 a0002c0002t0011	a0002c0002t0003g0008 a0002c0002t0003g0026 a0002c0002t0003g0027 others(46): Show a0002c0002t0003g0008 a0002c0002t0003g0026 a0002c0002t0003g0027 a0002c0002t0003g0029 a0002c0002t0003g0031 a0002c0002t0003g0033 a0002c0002t0003g0034 a0002c0002t0003g0035 a0002c0002t0003g0036 a0002c0002t0003g0037 a0002c0002t0003g0039 a0002c0002t0003g0040 a0002c0002t0003g0045 a0002c0002t0003g0046 a0002c0002t0003g0047 a0002c0002t0003g0049 a0002c0002t0003g0052 a0002c0002t0003g0054 a0002c0002t0003g0056 a0002c0002t0003g0058 a0002c0002t0003g0059 a0002c0002t0003g0060 a0002c0002t0003g0061 a0002c0002t0003g0062 a0002c0002t0003g0063 a0002c0002t0003g0064 a0002c0002t0003g0067 a0002c0002t0003g0068 a0002c0002t0003g0070 a0002c0002t0003g0071 a0002c0002t0003g0073 a0002c0002t0003g0074 a0002c0002t0003g0089 a0002c0002t0003g0349 a0002c0002t0003g0351 a0002c0002t0003g0352 a0002c0002t0003g0353 a0002c0002t0003g0354 a0002c0002t0003g0356 a0002c0002t0003g0357 a0002c0002t0003g0358 a0002c0002t0003g0359 a0002c0002t0003g0363 a0002c0002t0003g0364 a0002c0002t0003g0366 a0002c0002t0003g0368 a0002c0002t0003g0369 a0002c0002t0011g0069 a0002c0002t0011g0355	49	370	0.1324	458	c.284 others(477): Show c.284+19148_284+19149insAGGGCGGCTGGCTGGGCGGGGGGGCT GACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACAGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCC TGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCG GATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGG GGGGCCGACCCCCCCCCACCTCCCTCCCGGAC	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	4/23			chr3	TogoVar
SIGIRR_chr11_400716_419999	411066	C C	CGGCGGGG others(451): Show CGGCGGGGGGGTGCCCAGCTCTGACCATGTCTGGATGCAGTCGGGGGGTG CCCAGCTCTGACCATGTCTGGATACAGTCGGTGGGGGGTGCCCAGCTCTG ACCATGTCTGGATACAGTCGGTGGGGGGGGGGGGTGCCCAGCTCTGACCA TGTCTGGATGCAGTCGGGGAGGGGTGCTCAGCTCTGACCATGTCTGGATG CAGTCGGGGGGGGTGCCCAGCTCTGACCATGTCTGAATGCAGTCGGGGGG GGGGGGTGCCCAGCTCTGACCATGTCTGAATGCAGTCGGGGAGGGGGGTG CCCAGCTCTGACCATGTCTGGATGCAGTCGGGGGGTGCCCAGCTCTGACC ATGTCTGGATGCAGTCGGGCGGGGGGGGTGCTCAGCTCTGACCATGTCTG GATGCAGTCGGGGGGGGGGGGGGTGCCCAGCTCTGACCATGTCTGAATGC AGTCGGGGA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	242	0.0041	458	c.-15 others(477): Show c.-153-1040_-153-1039insTCCCCGACTGCATTCAGACATGGTCA GAGCTGGGCACCCCCCCCCCCCCCGACTGCATCCAGACATGGTCAGAGCT GAGCACCCCCCCCGCCCGACTGCATCCAGACATGGTCAGAGCTGGGCACC CCCCGACTGCATCCAGACATGGTCAGAGCTGGGCACCCCCCTCCCCGACT GCATTCAGACATGGTCAGAGCTGGGCACCCCCCCCCCCCGACTGCATTCA GACATGGTCAGAGCTGGGCACCCCCCCCGACTGCATCCAGACATGGTCAG AGCTGAGCACCCCTCCCCGACTGCATCCAGACATGGTCAGAGCTGGGCAC CCCCCCCCCCCACCGACTGTATCCAGACATGGTCAGAGCTGGGCACCCCC CACCGACTGTATCCAGACATGGTCAGAGCTGGGCACCCCCCGACTGCATC CAGACATGGTCAGAGCTGGGCACCCCCCCGCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SMYD3_chr1_245744347_246512279	246243974	C C	CTGAAGCA others(451): Show CTGAAGCAGGAGGATCACCTGAGGCTAGGAGTTTGAAGCCACGGTCTGCT ATGATCATACCACAGTATTCTAAAGCCCAGGCAACACAGTGAAACCCCAC TGCTTACCCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGC TGGTCTCAGTGGCTCATGCCTGTAATCCTTGCATATCTTGGGATGGCAAG GAGGGAGCATCACTTGAGCCCAGGAGTTCAAAACCAGCCTGGGCAACACA CTGAGATTCCATCTCTCATTAAAATATTAGCTGGGTGCGATGGTGCATGC CTGCAGTCCCAGCTACTCCAGAGTCTGAGGTGGCAGGATTGCTTGAGCCC AGGAAGTCAAGGCTACAGTGAGCTGTGTTATTGCCACTGCACTCCAGCCA AGGTGACCACAGCAAGACTCTGTCTCCAAAAAAAAAAAAAAAGGCCAACC AATTTCCCA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0084 a0001c0002t0002g0084	1	150	0.0067	458	c.531 others(477): Show c.531+83226_531+83227insTGGGAAATTGGTTGGCCTTTTTTTTT TTTTTTGGAGACAGAGTCTTGCTGTGGTCACCTTGGCTGGAGTGCAGTGG CAATAACACAGCTCACTGTAGCCTTGACTTCCTGGGCTCAAGCAATCCTG CCACCTCAGACTCTGGAGTAGCTGGGACTGCAGGCATGCACCATCGCACC CAGCTAATATTTTAATGAGAGATGGAATCTCAGTGTGTTGCCCAGGCTGG TTTTGAACTCCTGGGCTCAAGTGATGCTCCCTCCTTGCCATCCCAAGATA TGCAAGGATTACAGGCATGAGCCACTGAGACCAGCTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTGGGTAAGCAGTGGGGTTTCACTGTGT TGCCTGGGCTTTAGAATACTGTGGTATGATCATAGCAGACCGTGGCTTCA AACTCCTAGCCTCAGGTGATCCTCCTGCTTCA	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SPAAR_chr9_35904490_35916686	35913964	T T	TAGTGTGT others(451): Show TAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTG TAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTG TAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTG TAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTG TAGTGAGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTG TAGTGAGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTG TAGTGAGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTG TAGTGAGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTG TAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATG TGTGTAGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	420	0.0024	458	c.32 others(469): Show c.3273_*3274insAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTG TAAGCTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTG TAAGCTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTG TAAGCTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTG TAAGCTGTATGTGTGTAGTGAGTGTGTTTTTGTATGCTGTGGTGTGTGTG TAAGCTGTATGTGTGTAGTGAGTGTGTTTTTGTATGCTGTGGTGTGTGTG TAAGCTGTATGTGTGTAGTGAGTGTGTTTTTGTATGCTGTGGTGTGTGTG TAAGCTGTATGTGTGTAGTGAGTGTGTTTTTGTATGCTGTGGTGTGTGTG TAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTG TGTGTAAGTTGTATGTGTGTAGTG	SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding		2279		chr9	TogoVar
SPAAR_chr9_35904490_35916686	35914124	G G	GTGTGTGT others(451): Show GTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAGT GTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAGT GTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAGT GTGTATTTTTTTATGCTGTAGTGTGTGTGTAAGCTGTATGTGTGTAGTGA GTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTA GTGAGTGTGTGTGTTTTTGTTTGCTGTGGTGTGTGTGTAAGCTGTATGTG TGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTA TGTGTGTAGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATG TGTGTAGTGAGTGTGTGTGTTTTTGTTTGCTGTGGTGTGTGTGTAAGTTG TATGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01243.hp1 HG01192.hp2 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	420	0.0048	458	c.34 others(469): Show c.3433_*3434insTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAG CTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAG CTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAG CTGTATGTGTGTAGTGTGTATTTTTTTATGCTGTAGTGTGTGTGTAAGCT GTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTA AGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTTTGCTGTGGTGTGTG TGTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTG TGTGTGTAAGCTGTATGTGTGTAGTGTGTGTTTTTGTATGCTGTGGTGTG TGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTTTGCTGTGG TGTGTGTGTAAGTTGTATGTGTGT	SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding		2439		chr9	TogoVar
STAB2_chr12_103582273_103771719	103768598	G G	GGGGAGGG others(451): Show GGGGAGGGGGGAGGGAGAGGGACAGGGACAGGGAGAGGGAGAGGGAGAGA GAGGGAGGGAGAGGGGGAGGGAGAGGGAGAGGGACAGGGAGAGGGAGGGA GAGAGGGAGAGGGAGGGGAGGGGGGAGAGGGAGGGGAGGGGGAGAGGGGG GAGAGAGAGGGAGGGGGTGGGAGGGGAGGGAGGGAGAGGGACAGGGAGAG GGAGGGAGAGGGAGAGAAGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGGG AGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGGGAGGGGGGA GGGAGAGAGATGGGGGAGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGA TGGGGGAGGGAGAGGGACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAG GGAGAGGGGGAGAGAGGGAGAGGGAGAGAGAGGGAAAGGGAGTGAGAGAG AGAGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG01081.hp1 HG01243.hp1 HG00280.hp2 HG01081.hp1 HG01243.hp1	a0005 a0017 a0005 a0017	a0005c0027 a0005c0057 a0017c0060 a0005c0027 a0005c0057 a0017c0060	a0005c0027t0001 a0005c0057t0001 a0017c0060t0001 a0005c0027t0001 a0005c0057t0001 a0017c0060t0001	a0005c0027t0001g0146 a0005c0057t0001g0181 a0017c0060t0001g0149 a0005c0027t0001g0146 a0005c0057t0001g0181 a0017c0060t0001g0149	3	256	0.0117	458	c.22 others(469): Show c.2262_*2263insGGGAGGGGGGAGGGAGAGGGACAGGGACAGGGAG AGGGAGAGGGAGAGAGAGGGAGGGAGAGGGGGAGGGAGAGGGAGAGGGAC AGGGAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGGGGGAGAGGGAGGG GAGGGGGAGAGGGGGGAGAGAGAGGGAGGGGGTGGGAGGGGAGGGAGGGA GAGGGACAGGGAGAGGGAGGGAGAGGGAGAGAAGGAGGGAGAGGGAGGGA GAGGGAGAGGGAGGGAGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGA GGGAGGGAGGGGGGAGGGAGAGAGATGGGGGAGGGGGAGGGAGAGGGATG GGGGAGGGAGAGGGATGGGGGAGGGAGAGGGACAGGGGGAGGGAGAAGGA GAGGGAGAGGGGGAGGGAGAGGGGGAGAGAGGGAGAGGGAGAGAGAGGGA AAGGGAGTGAGAGAGAGAGGGAGA	STAB2	ENSG00000136011.15	transcript	ENST00000388887.7	protein_coding		1880		chr12	TogoVar
TEDC2_chr16_2455109_2469963	2466524	A A	ATACAAAA others(451): Show ATACAAAAAAATTAGCCCGGTGTGGTGGCATGCACCTGTGGTCCCAGTTA CCTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTG CAGTGAGCGGAGATGGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAG ACTCCGTCTCAAAGAAAACAAAAAAAAGTTAGCCGGCGTGGTGTGTGCCT GCATTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGG GAAGCAGAGGTTGCAGTGAGCCAAGATTGTGCCAATGTACTCCAGCCTGG GCGACAGAGCGAGACTCTGTGTCAAAAAAAAAAAAAAGGCAGGCACGGTG GCTCATGACTGTAATCCCAGCACTTTGGAAGGCCAAGGCAGGCGGATCAC GAGGTCAGGAGATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTC TACTAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02451.hp1 HG02630.hp1 others(5): Show HG02145.hp2 HG02451.hp1 HG02630.hp1 HG02970.hp1 HG03041.hp1 HG03471.hp2 HG03516.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0023 a0001c0001t0001g0006 a0001c0001t0001g0023	8	378	0.0212	458	c.18 others(469): Show c.1856_*1857insTACAAAAAAATTAGCCCGGTGTGGTGGCATGCAC CTGTGGTCCCAGTTACCTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCC AGGAGGCAGAGGTTGCAGTGAGCGGAGATGGTGCCACTGCACTCCAGCCT GGGCAACAGAGTGAGACTCCGTCTCAAAGAAAACAAAAAAAAGTTAGCCG GCGTGGTGTGTGCCTGCATTCCCAGCTACTCAGGAGGCTGAGGCAGGAGA ATCACTTGAACCTGGGAAGCAGAGGTTGCAGTGAGCCAAGATTGTGCCAA TGTACTCCAGCCTGGGCGACAGAGCGAGACTCTGTGTCAAAAAAAAAAAA AAGGCAGGCACGGTGGCTCATGACTGTAATCCCAGCACTTTGGAAGGCCA AGGCAGGCGGATCACGAGGTCAGGAGATCAAGACCAGCCTGACCAACATG GTGAAACCTCGTCTCTACTAAAAC	TEDC2	ENSG00000162062.15	transcript	ENST00000361837.9	protein_coding		1562		chr16	TogoVar
TMEM120B_chr12_121707752_121787068	121747411	G G	GCACTGGG others(451): Show GCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGG GTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGG GTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCA	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0262 a0001c0001t0041g0262	1	314	0.0032	458	c.189 others(473): Show c.189-914_189-913insACTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGG AGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGCTG GGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTG GGAGGCTGGGGTAGAAGGTGGGAGGCAC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar

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