Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
AZU1_chr19_822837_837018	835481	T T	TGCGTGCA others(193): Show TGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGC CCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTC CAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGA C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0012 a0002c0005t0001g0012	1	223	0.0045	200	c.36 others(211): Show c.3604_*3605insGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGT GCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCA CCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCC CCGTCCAGGCCCCGAC		AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding					3464		chr19	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCGTGCA others(193): Show TGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGC CTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTC CAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGA C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0006 a0001c0004t0001g0006	1	223	0.0045	200	c.36 others(211): Show c.3604_*3605insGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGT GCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCA CCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCC CCGTCCAGGCCCCGAC		AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding					3464		chr19	TogoVar
BFSP2_chr3_133395056_133480208	133425982	A A	AGGGGGAG others(193): Show AGGGGGAGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAAGGGGAGGG GAAGGGGAGGGGAAGAGGGGAGGGGAAGGGGGAGGGGGAGGGGGGAGGGG GAGGGGGAAGGGGGAGGGGAGGGGAAGGGGAGGGGAGGGGAAGGGGAGGG GAGGGGAAGGGGAGGGGAGGGGGAAGGGGAGGGGAGGGGAAGGCAGGGCA G	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	148	0.0068	200	c.490 others(219): Show c.490-21333_490-21332insGGGAGAGGGGGAGGGGAGGGGAGGGG GAGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGAGGGGAGGGGAAGG GGGAGGGGGAGGGGGGAGGGGGAGGGGGAAGGGGGAGGGGAGGGGAAGGG GAGGGGAGGGGAAGGGGAGGGGAGGGGAAGGGGAGGGGAGGGGGAAGGGG AGGGGAGGGGAAGGCAGGGCAGGG		BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr3	TogoVar
C16orf95_chr16_87297814_87322392	87304305	T T	TGCCCATC others(193): Show TGCCCATCCTCTAAGGCTGGGATCCAGCTGTGGGCCACTGTGCCCGGCCT CGCCCATCCTCTAAGGCTGGGATCCAGCTGTGGGCCACTGTGCCCGGCCT CGCCCATCCTCTAAGGCTGGGATCCAGCTGTGGGCCACTGTGCCCGGCCT CGCCCATCCTCTAAGGCTGGGATCCAGCTGTGGGCCACTGTGCCCGGCCT C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02280.hp2 HG03130.hp1 HG01891.hp2 HG02280.hp2 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0028 a0001c0002t0004g0028	3	159	0.0189	200	c.702 others(217): Show c.702-1231_702-1230insGAGGCCGGGCACAGTGGCCCACAGCTGG ATCCCAGCCTTAGAGGATGGGCGAGGCCGGGCACAGTGGCCCACAGCTGG ATCCCAGCCTTAGAGGATGGGCGAGGCCGGGCACAGTGGCCCACAGCTGG ATCCCAGCCTTAGAGGATGGGCGAGGCCGGGCACAGTGGCCCACAGCTGG ATCCCAGCCTTAGAGGATGGGC		C16orf95	ENSG00000260456.7	transcript	ENST00000567970.2	protein_coding	6/6						chr16	TogoVar
C17orf99_chr17_78141385_78171297	78143074	A A	ACAGGTTC others(193): Show ACAGGTTCAAGCCATCCTCCTGCCTTAGCCTCCTGAGTAGCTGGACTAGA GGCACCTACCACCATGCCTGGCTAATTTTTTGTTTTGTTTTGTTTTTGTT TTTGTTTTTGTTTTTGTTTTTGTTTTTGAGATGGAGTTTTGCTCTTGTTG CCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACTGCAACCTCTGCCT C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0318 a0001c0003t0001g0318	1	257	0.0039	200	c.-33 others(211): Show c.-3334_-3333insCAGGTTCAAGCCATCCTCCTGCCTTAGCCTCCTG AGTAGCTGGACTAGAGGCACCTACCACCATGCCTGGCTAATTTTTTGTTT TGTTTTGTTTTTGTTTTTGTTTTTGTTTTTGTTTTTGTTTTTGAGATGGA GTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCA CTGCAACCTCTGCCTC		C17orf99	ENSG00000187997.12	transcript	ENST00000340363.10	protein_coding					3310		chr17	TogoVar
C22orf42_chr22_32144006_32164303	32145779	A A	AATATAAT others(193): Show AATATAATATATTAATATAATTATATATTATATATTATATTATATAATAT ATTAATATAATTATATATTATATATTATATTATATAATATATTAATATAA TTATATATTATATATTATATTATATAATATATTAATATAATTATATATTA TATATTATATTATATAATATATTAATATAATTATATATTATATATTATAT T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG01255.hp2 HG02738.hp1 others(2): Show HG00280.hp1 HG01255.hp2 HG02738.hp1 HG02970.hp1 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0007 a0002c0002t0002g0016 a0002c0002t0002g0037 a0002c0002t0002g0007 a0002c0002t0002g0016 a0002c0002t0002g0037	5	322	0.0155	200	c.37 others(211): Show c.3760_*3761insAATATAATATATAATATATAATTATATTAATATA TTATATAATATAATATATAATATATAATTATATTAATATATTATATAATA TAATATATAATATATAATTATATTAATATATTATATAATATAATATATAA TATATAATTATATTAATATATTATATAATATAATATATAATATATAATTA TATTAATATATTATAT		C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding					3226		chr22	TogoVar
C5orf15_chr5_133950510_133973625	133971061	C C	CGGGAGGC others(193): Show CGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGGGAGGCTG AGGCAGGAGAATTGCTTGAACCCAGGAGGCGGGGAGGCTGAGGCAGGAGA ATTGCTTGAACCCAGGAGGCGGGGAGGCTGAGGCAGGAGAATTGCTTGAA CCCAGGAGGCGGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGC G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG01168.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0105 a0001c0001t0002g0010 a0001c0001t0002g0105	2	378	0.0053	200	c.-24 others(211): Show c.-2478_-2477insCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAG CCTCCCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCCGCC TCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCCGCCTCCTGGGTTC AAGCAATTCTCCTGCCTCAGCCTCCCCGCCTCCTGGGTTCAAGCAATTCT CCTGCCTCAGCCTCCC		C5orf15	ENSG00000113583.8	transcript	ENST00000231512.5	protein_coding					2437		chr5	TogoVar
CA10_chr17_51625320_52163714	51717841	A A	ACATGTAT others(193): Show ACATGTATATATACATGTATACATATATACACATATATATGTGTATATAT ATACATGTATACATATATACACATATATATGTGTATATATATATACACGT ATATATATGTGTATATATACACGTATATATATATGTATATATATACGTGT ATGTATATATGTATATATATACGTGTATGTATATATGTATATATATACGT G	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0038	1	151	0.0066	200	c.465 others(219): Show c.465+29791_465+29792insCACGTATATATATACATATATACATA CACGTATATATATACATATATACATACACGTATATATATACATATATATA TACGTGTATATATACACATATATATACGTGTATATATATATACACATATA TATGTGTATATATGTATACATGTATATATATACACATATATATGTGTATA TATGTATACATGTATATATACATG		CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	4/8						chr17	TogoVar
CACNA1H_chr16_1148106_1226768	1185638	C C	CGAGTAGA others(193): Show CGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACAGGGCAGG TGAGTAGACGGTCAGCGTGCATAGGGGCCGGAGGCGGGGTGTGTACGGGG CGGGTGAGTAGACGGCGTGCGTAGGGGCCAGAGGCGGGGTGTGTACGGGG CGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGG T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0047 a0047	a0047c0069 a0047c0069	a0047c0069t0003 a0047c0069t0003	a0047c0069t0003g0048 a0047c0069t0003g0048	1	177	0.0056	200	c.300 others(217): Show c.300-9324_300-9323insCATGTGTAGGGGCCGGAGGCGGGGTGTG TACAGGGCAGGTGAGTAGACGGTCAGCGTGCATAGGGGCCGGAGGCGGGG TGTGTACGGGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCAGAGGCGGGG TGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTG TACGGGGCGGGTGAGTAGACGG		CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34					INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1I_chr22_39565753_39694735	39596192	G G	GGGGGGCA others(193): Show GGGGGGCAGGGCGGAGAGAGATGGGGAGCAGGGCGGAGAGAGATGGGGGG GCAGGGCGGAGAGAGATGGGGGGGCAGGGCGGAGAGAGATGGGGGGCAGG GCGGAGGGAGATGGGGGGCAGGGCGGAGGGAGATGGGGGAGCAGGACGGA GGGAGATGGGGGAGCAGGACGGAGGGAGATGGGGGCAGGGCGGAGGGAGA T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0069 a0001c0002t0011g0069	1	234	0.0043	200	c.237 others(217): Show c.237-1954_237-1953insCAGGGCGGAGAGAGATGGGGAGCAGGGC GGAGAGAGATGGGGGGGCAGGGCGGAGAGAGATGGGGGGGCAGGGCGGAG AGAGATGGGGGGCAGGGCGGAGGGAGATGGGGGGCAGGGCGGAGGGAGAT GGGGGAGCAGGACGGAGGGAGATGGGGGAGCAGGACGGAGGGAGATGGGG GCAGGGCGGAGGGAGATGGGGG		CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	1/36					INFO_REALIGN_3_PRIME	chr22	TogoVar
CAMKK1_chr17_3855315_3898053	3868071	A A	AGTCTAAC others(193): Show AGTCTAACTGATACACAGGATCTGGGGGAGAAGCAGGCGCCGTCTAACTG ATACACAGGATCTGGGGGAGAAGCAGGCGCCGTCTAACTGATACGTGGGC TCTGGGGGAGAAGCAGGCGCCGTCTAACTGATACGTGGGCTCTGGGGGAG AAGCAGGCGCCGTCTAACTGATACGTGGGCTCTGGGGGAGAAGCAGGCGC C	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0157 a0001c0002t0005g0157	1	161	0.0062	200	c.134 others(219): Show c.1341+1415_1341+1416insGGCGCCTGCTTCTCCCCCAGAGCCCA CGTATCAGTTAGACGGCGCCTGCTTCTCCCCCAGAGCCCACGTATCAGTT AGACGGCGCCTGCTTCTCCCCCAGAGCCCACGTATCAGTTAGACGGCGCC TGCTTCTCCCCCAGATCCTGTGTATCAGTTAGACGGCGCCTGCTTCTCCC CCAGATCCTGTGTATCAGTTAGAC		CAMKK1	ENSG00000004660.15	transcript	ENST00000348335.7	protein_coding	14/15						chr17	TogoVar
CAMSAP2_chr1_200733893_200865704	200816966	G G	GTATGTGT others(193): Show GTATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACACACGCGT GTGTATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACACACGC GTGTGTATGTGTGTACACACACGCGTGTGTATGTGTGTACACACACGCGT GTGTATGTGTGTACACACACGCGTGTGTATGTGTGTACACACACACGCGT A	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	267	0.0037	200	c.645 others(217): Show c.645+1329_645+1330insGTACACACACACGCGTGTGTATGTGTGT ACACACACACGCGTGTGTATGTGTGTACACACACACGCGTGTGTATGTGT GTACACACACACGCGTGTGTATGTGTGTACACACACGCGTGTGTATGTGT GTACACACACGCGTGTGTATGTGTGTACACACACGCGTGTGTATGTGTGT ACACACACACGCGTATATGTGT		CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPN12_chr19_38725192_38749474	38735727	G G	GGGGGCGG others(193): Show GGGGGCGGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGGGTTCTGGGGG CGGGGCGGGGCGGGGCGGTGGTTCTGCGGGCGGGGCGGGGCGGGGCGGGG CGGGGGTTCTGGGGGCGGGGCGGGGCGGGGCGGGGGTTCTGGGGGCGGGG CGGGGCGGGGGTTCTGGGGGCGGGGCGGGGCGGGGCGGGGGTTCTGGGGG C	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0187 a0001c0002t0002g0187	1	267	0.0037	200	c.158 others(217): Show c.1584-184_1584-183insGCCCCCAGAACCCCCGCCCCGCCCCGCC CCGCCCCCAGAACCCCCGCCCCGCCCCGCCCCCAGAACCCCCGCCCCGCC CCGCCCCGCCCCCAGAACCCCCGCCCCGCCCCGCCCCGCCCCGCCCGCAG AACCACCGCCCCGCCCCGCCCCGCCCCCAGAACCCCCGCCCCGCCCCCAG AACCCCCGCCCCGCCCCGCCCC		CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20						chr19	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(193): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAA GGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGG AGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAGAGGGAG AGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGAA G	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0354 a0002c0003t0006g0354	1	43	0.0233	200	c.234 others(217): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCTTCTTCCTC TCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTCCCTCTCCCTCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCCTTCCCCT TCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCT		CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10						chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(193): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAGGAAGGGGAA GGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGG AGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAGAGGAAG AAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA G	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0262 a0002c0003t0001g0262	1	43	0.0233	200	c.234 others(217): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTCCCTCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCCT TCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCTCTTCCTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCT		CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10						chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(193): Show AAGAAGAAGAAGAAGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGG GAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGA GGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG GAGGGGGAGAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAA G	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0072 a0001c0001t0004g0072	1	43	0.0233	200	c.234 others(217): Show c.234+6868_234+6869insCTTCTTCTTCCTCTCCTTCTCCTTCTCC TTCTTCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCCTTCCCCTTCC CCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCC TTCCCCTTCTTCTTCTTCTTCT		CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10						chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244621181	T T	TTATATAA others(193): Show TTATATAAATATATCTATATATTATATATAGATATATTTATATAAATATA TCTATATATTATATATAGATATATTTATATAGATATATTTATATAGATAT ATTTATATAGATATATCTATATAGATATATTTATATAGATATATTTATAT AGATATATCTATATAGATATATTTATATAGATATATTTATATAGATATAT C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	199	0.0050	200	c.264 others(219): Show c.2648+3501_2648+3502insAATATATCTATATATTATATATAGAT ATATTTATATAAATATATCTATATATTATATATAGATATATTTATATAGA TATATTTATATAGATATATTTATATAGATATATCTATATAGATATATTTA TATAGATATATTTATATAGATATATCTATATAGATATATTTATATAGATA TATTTATATAGATATATCTATATA		CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	20/21					INFO_REALIGN_3_PRIME	chr1	TogoVar
CBFA2T3_chr16_88869858_88982207	88894500	C C	CGCACACA others(193): Show CGCACACATGCACGCACACATGCATACATATACACATGCACACAATGTAC ACACATGCACGCACACATGCATACATATACACATGCACACAATGTACACA CATGCACACACACATGCATACATATTCACATGCACACAATGTACACACAT GCACGCACACATGCACGCACACATGCATACATATACACATGCACACAATG T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0029 a0001c0020t0029	a0001c0020t0029g0115 a0001c0020t0029g0115	1	279	0.0036	200	c.380 others(217): Show c.380-2016_380-2015insACATTGTGTGCATGTGTATATGTATGCA TGTGTGCGTGCATGTGTGCGTGCATGTGTGTACATTGTGTGCATGTGAAT ATGTATGCATGTGTGTGTGCATGTGTGTACATTGTGTGCATGTGTATATG TATGCATGTGTGCGTGCATGTGTGTACATTGTGTGCATGTGTATATGTAT GCATGTGTGCGTGCATGTGTGC		CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	3/11						chr16	TogoVar
CCDC127_chr5_191868_223153	194146	A A	ACTGTCCT others(193): Show ACTGTCCTGTGGTCTCACTGCCCCCCGCCGTCTGCTTTCTGAGCTGACAT TCTGTCCTGTGGTCTCACTGCCCCCCGCCGTCTGCTTTCTGAGCTGACAT TCTGTCCTGTGGTCTCACTGCCCCCCGCCGTCTGCTTTCTGAGCAGACAT TCTGTCCTGTGGTCTCACTGCCCCCCGCCGTCTGCTTTCTGAGCTGACAT T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02615.hp1 HG02886.hp2 others(3): Show HG01891.hp2 HG02615.hp1 HG02886.hp2 HG03139.hp1 HG03209.hp1 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0228 a0001c0002t0229 others(1): Show a0001c0002t0015 a0001c0002t0228 a0001c0002t0229 a0001c0002t0230	a0001c0002t0015g0047 a0001c0002t0015g0272 a0001c0002t0228g0273 others(2): Show a0001c0002t0015g0047 a0001c0002t0015g0272 a0001c0002t0228g0273 a0001c0002t0229g0270 a0001c0002t0230g0271	6	240	0.0250	200	c.11 others(213): Show c.11150_*11151insAATGTCAGCTCAGAAAGCAGACGGCGGGGGGC AGTGAGACCACAGGACAGAATGTCTGCTCAGAAAGCAGACGGCGGGGGGC AGTGAGACCACAGGACAGAATGTCAGCTCAGAAAGCAGACGGCGGGGGGC AGTGAGACCACAGGACAGAATGTCAGCTCAGAAAGCAGACGGCGGGGGGC AGTGAGACCACAGGACAG		CCDC127	ENSG00000164366.4	transcript	ENST00000296824.4	protein_coding					2721		chr5	TogoVar
CCDC183_chr9_136791338_136812741	136803215	G G	GGGGCCCC others(193): Show GGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGA GCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTC GGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCC AGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC T	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	332	0.0030	200	c.666 others(215): Show c.666+432_666+433insCCCCCCAGGGCCAGCCCTCTTGGATCTTCG GATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCA GCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCT GGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGA GCTCAGGGCCCAGGGCTGGG		CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13					INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC30_chr1_42458286_42662190	42461713	A A	ATTTTTTT others(193): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATC TCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAA T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0009 a0001c0004t0009	a0001c0004t0009g0291 a0001c0004t0009g0291	1	321	0.0031	200	c.-22 others(211): Show c.-2277_-2276insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGAC TGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCC ACCGCGCCCGGCTAAT		CCDC30	ENSG00000186409.19	transcript	ENST00000657597.2	protein_coding					1572		chr1	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(193): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCCCTCCCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCT TCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTC T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	18	0.0556	200	c.-22 others(211): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAG GGAAGGGAAGGGAAGG		CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding					2039		chr17	TogoVar
CCSER2_chr10_84323589_84523517	84501834	A A	AAAAAATA others(193): Show AAAAAATATATATATATATATATACTCATATATATATATATATATATACT CATATATATATATATATATACTCATATATATATATATACTCATATATATA TATATACTCATATATATATATATACTCATATATATATATACTCATATATA TATATATACATATATATATATATATATATATATATATATATATATACTCA T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0007 a0003c0004t0007	a0003c0004t0007g0049 a0003c0004t0007g0049	1	218	0.0046	200	c.232 others(221): Show c.2326-11614_2326-11613insAAAATATATATATATATATATACT CATATATATATATATATATATACTCATATATATATATATATATACTCATA TATATATATATACTCATATATATATATATACTCATATATATATATATACT CATATATATATATACTCATATATATATATATACATATATATATATATATA TATATATATATATATATATACTCATA		CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr10	TogoVar
CCSER2_chr10_84323589_84523517	84501834	A A	AAAATATA others(193): Show AAAATATATATATATATATATATATACTCATATATATATATATACTCATA TATATATATATACTCATATATATATATACTCATATATATATATATACTCA TATATATATATATATATATATACTCATATATATATATATATATATATACT CATATATATATATATATATATACTCATATATATATATATATATATATACT C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0007 a0003c0004t0007	a0003c0004t0007g0047 a0003c0004t0007g0047	1	218	0.0046	200	c.232 others(221): Show c.2326-11614_2326-11613insAATATATATATATATATATATATA CTCATATATATATATATACTCATATATATATATATACTCATATATATATA TACTCATATATATATATATACTCATATATATATATATATATATATACTCA TATATATATATATATATATATACTCATATATATATATATATATATACTCA TATATATATATATATATATATACTCA		CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr10	TogoVar
CCSER2_chr10_84323589_84523517	84501836	T T	AATATATA others(193): Show AATATATATATATATATATATATACTCATATATATATATATACTCATATA TATATATATATATATATACTCATATATATATATATACTCATATATATATA TACTCATATATATATATATACTCATATATATATATATATATATACTCATA TATATATATATATATATATACTCATATATATATATATATATATATACTCA T	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0022 a0003c0004t0022	a0003c0004t0022g0043 a0003c0004t0022g0043	1	262	0.0038	200	c.232 others(221): Show c.2326-11614_2326-11613insAATATATATATATATATATATATA CTCATATATATATATATACTCATATATATATATATATATATATACTCATA TATATATATATACTCATATATATATATACTCATATATATATATATACTCA TATATATATATATATATATACTCATATATATATATATATATATATACTCA TATATATATATATATATATATACTCA		CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	9/9						chr10	TogoVar
CD3G_chr11_118339344_118360161	118355852	C C	CACATATA others(193): Show CACATATATGTGTGTATACGCATACACACACATATGTGTGTGTATACGCA TACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTA TACGCATACACACACATATGTGTGTGTATACGCATACACACACATATGTG TGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACACACA T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp2 NA18612.hp2 HG03704.hp2 NA18612.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0027 a0002c0002t0002 a0002c0002t0027	a0002c0002t0002g0032 a0002c0002t0027g0002 a0002c0002t0002g0032 a0002c0002t0027g0002	2	302	0.0066	200	c.27 others(211): Show c.2752_*2753insACATATATGTGTGTATACGCATACACACACATAT GTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACAC ACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCAT ACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTAT ACGCATACACACACAT		CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding					692		chr11	TogoVar
CD3G_chr11_118339344_118360161	118355852	C C	CACATATA others(193): Show CACATATATGTGTGTATACGCATACACACACATATGTGTGTGTATACGCA TACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTA TACGCATACACACACATATGTGTGTGTATACGCATACACACATATATGTG TGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACATA T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG02976.hp2 HG01099.hp2 HG02976.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0015 a0002c0002t0002g0077 a0002c0002t0002g0015 a0002c0002t0002g0077	2	302	0.0066	200	c.27 others(211): Show c.2752_*2753insACATATATGTGTGTATACGCATACACACACATAT GTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACAC ACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCAT ACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTAT ACGCATACACACATAT		CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding					692		chr11	TogoVar
CD3G_chr11_118339344_118360161	118355852	C C	CACATATG others(193): Show CACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCA TACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTA TACGCATACACACACATATGTGTGTGTATACGCATACACACACATATGTG TGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACACACA T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0007 a0002c0002t0008g0007	1	301	0.0033	200	c.27 others(211): Show c.2752_*2753insACATATGTGTGTGTATACGCATACACACACATAT GTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACAC ACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCAT ACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTAT ACGCATACACACACAT		CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding					692		chr11	TogoVar
CD3G_chr11_118339344_118360161	118355852	C C	CATATATG others(193): Show CATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCA TACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTA TACGCATACACACATATATGTGTGTGTATACGCATACACACATATATGTG TGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACATA T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	301	0.0033	200	c.27 others(211): Show c.2752_*2753insATATATGTGTGTGTATACGCATACACACATATAT GTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACAC ATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCAT ACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTAT ACGCATACACACATAT		CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding					692		chr11	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(193): Show CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCCCCTCCCCCCTCCC CCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCC CTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCCCCTCCCCTC T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0028 a0001c0001t0041g0028	1	12	0.0833	200	c.-45 others(221): Show c.-455+14589_-455+14590insCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCCCC TCCCCCCTCCCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCC CTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCT CCCCTCCCCTCTCCCCTCCCCTCCCC		CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr5	TogoVar
CDH4_chr20_61247261_61945617	61943045	C C	CACGAGGA others(193): Show CACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGAC CACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGAC GACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGAC GACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGAC G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0022 a0002c0002t0004g0022	1	104	0.0096	200	c.61 others(211): Show c.6102_*6103insACGAGGAGCACTGCGACCGTCTGCACCGTGGCCG CCCCCTCTCACCGACCACGAGGAGCACTGCGACCGTCTGCACCGTGGCCG CCCCCTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCG CCCCCTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCG CCCCCTCTCACCGACG		CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding					2429		chr20	TogoVar
CDH4_chr20_61247261_61945617	61943828	C C	CGCCCCTT others(193): Show CGCCCCTTCTCACCAATGATGAGGAACATTGAGACTGTCTGCACCATGGC TGCCCCTTCTCCCCAACAATGAGGAACACTGTGACTGTCTGCACCGTGGC CGCCCCTTCTGACTGATGATGAGGAACATTGCGACTGTCTGCACCGTGGC CGCCCCTTCTCACCAATGATGATGAGCATTGCAGCTGTCTGGACCATGGG A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG02922.hp1 HG03209.hp1 HG01255.hp2 HG02922.hp1 HG03209.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0009 a0001c0007t0047 a0001c0007t0009 a0001c0007t0047	a0001c0007t0009g0017 a0001c0007t0009g0044 a0001c0007t0047g0065 a0001c0007t0009g0017 a0001c0007t0009g0044 a0001c0007t0047g0065	3	103	0.0291	200	c.68 others(211): Show c.6885_*6886insGCCCCTTCTCACCAATGATGAGGAACATTGAGAC TGTCTGCACCATGGCTGCCCCTTCTCCCCAACAATGAGGAACACTGTGAC TGTCTGCACCGTGGCCGCCCCTTCTGACTGATGATGAGGAACATTGCGAC TGTCTGCACCGTGGCCGCCCCTTCTCACCAATGATGATGAGCATTGCAGC TGTCTGGACCATGGGA		CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding					3212		chr20	TogoVar
CDH4_chr20_61247261_61945617	61944225	G G	GACGAGGA others(193): Show GACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGAC CACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGAC GACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCTTCTCACCGAC GACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGAC C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0055 a0001c0001t0037g0055	1	100	0.0100	200	c.72 others(211): Show c.7282_*7283insACGAGGAGCACTGCGACCGTCTGCACCGTGGCCG CCCCCTCTCACCGACCACGAGGAGCACTGCGACCGTCTGCACCGTGGCCG CCCCCTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCG CCCCTTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCG CCCCCTCTCACCGACC		CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding					3609		chr20	TogoVar
CDH4_chr20_61247261_61945617	61945018	C C	CGACGACG others(193): Show CGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCAC CGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCTTCTCAC TGACGATGAGGAGCACTGCGACTGTCTGCACCGTGGCCGCCCCTTCTCAC CGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCTTCTCAC T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0087 a0002c0002t0003g0087	1	106	0.0094	200	c.80 others(211): Show c.8075_*8076insGACGACGAGGAGCACTGCGACCGTCTGCACCGTG GCCGCCCCCTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTG GCCGCCCCTTCTCACTGACGATGAGGAGCACTGCGACTGTCTGCACCGTG GCCGCCCCTTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTG GCCGCCCCTTCTCACT		CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding					4402		chr20	TogoVar
CENPJ_chr13_24877279_24927861	24882005	G G	GATACATC others(193): Show GATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGA TACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATA CATCTATATATAGATACATCTATATATAGATACATCTATATATAGATACA TCTATATATAGATACATCTATATATAGATACATCTATATATAGATACATC T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0011 a0001c0002t0007g0011	1	361	0.0028	200	c.11 others(211): Show c.1171_*1172insAGATGTATCTATATATAGATGTATCTATATATAG ATGTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGAT GTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGT ATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGTAT CTATATATAGATGTAT		CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding					273		chr13	TogoVar
CEP72_chr5_607340_658553	628866	C C	CTTCTGGA others(193): Show CTTCTGGAGAACTCAGGTTGCCGTCCCCGGGGAGTGTTCCCAGGACCCAG CCCCCTTCTTTGTGCAGCTTCTGGAGAACTCAGGTTGCCGTCCCCAGGGA GTGGCCCCAGGACCCAGCGCCCTTCTTTGTGCAGCTTCTGGAGAACTCAG GTCGCAGTCCCCGGGGAGTGTTCCCAGGACCCAGCCCCCTTCTTTGTGCA G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	81	0.0123	200	c.512 others(217): Show c.512+4287_512+4288insTTCTGGAGAACTCAGGTTGCCGTCCCCG GGGAGTGTTCCCAGGACCCAGCCCCCTTCTTTGTGCAGCTTCTGGAGAAC TCAGGTTGCCGTCCCCAGGGAGTGGCCCCAGGACCCAGCGCCCTTCTTTG TGCAGCTTCTGGAGAACTCAGGTCGCAGTCCCCGGGGAGTGTTCCCAGGA CCCAGCCCCCTTCTTTGTGCAG		CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	4/11						chr5	TogoVar
CFAP52_chr17_9571642_9648447	9630990	A A	AAAAGAAA others(193): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA G	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0160 a0001c0002t0001g0160	1	296	0.0034	200	c.117 others(219): Show c.1175-1857_1175-1856insAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGA		CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13					INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP52_chr17_9571642_9648447	9631068	A A	AAGAAAGA others(193): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAGAAGAGAAGAGAGAGAGAGAGAGAGAGAGAGA G	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0066 a0001c0002t0001g0066	1	272	0.0037	200	c.117 others(219): Show c.1175-1805_1175-1804insAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAGAAGAGAAGAGAGAGAGAGAGAGA GAGAGAGAGAGAAAGAAAGAAAGA		CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13					INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP61_chr20_20047532_20365698	20337382	A A	ATGGATGG others(193): Show ATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATAGATGGGTGGGTGGATGG ATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGAT GGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGG G	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0105 a0002c0009t0001g0105	1	83	0.0120	200	c.342 others(219): Show c.3423-4440_3423-4439insAGATGGATAGATGGGTGGGTGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGAT GGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGG ATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGAT GGATAGATGGGTGGGTGGATGGAT		CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26					INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20357713	G G	GTGAGGGG others(193): Show GTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAG GTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAC TGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGTGAGGGGA GGTGGTCACATTGAGGAGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACA C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02809.hp1 HG03834.hp1 HG02257.hp1 HG02809.hp1 HG03834.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0005 a0001c0001t0002 a0002c0002t0005	a0001c0001t0002g0190 a0002c0002t0005g0114 a0002c0002t0005g0137 a0001c0001t0002g0190 a0002c0002t0005g0114 a0002c0002t0005g0137	3	221	0.0136	200	c.351 others(219): Show c.3514-2479_3514-2478insGTGTGAGGGGAGGTGGTCACACTGAG GGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGT CACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGTGA GGGGAGGTGGTCACATTGAGGAGAGGTGGTCATAGTGTGAGGGGAGGTGG TCACACTGAGGGGAGGTGGTCACA		CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26					INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20357749	C C	CACTGAGG others(193): Show CACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACAGTGTGAGG GGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTC ACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGG GAGGTGGTCACACTGTGAGGGGAGGTGGTCACATTGAGGAGAGGTGGTCA T	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG03209.hp1 HG03486.hp2 HG01361.hp2 HG03209.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0003 a0001c0001t0003 a0001c0003t0003	a0001c0001t0003g0119 a0001c0001t0003g0139 a0001c0003t0003g0142 a0001c0001t0003g0119 a0001c0001t0003g0139 a0001c0003t0003g0142	3	46	0.0652	200	c.351 others(219): Show c.3514-2460_3514-2459insCTGAGGGGAGGTGGTCATAGTGTGAG GGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGT CATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGG GGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGTGAGGGGAGGTGG TCACATTGAGGAGAGGTGGTCATA		CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26					INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20357989	T T	TAGTGTGA others(193): Show TAGTGTGAGGGGAGGTGGTCACACTGTGAGGGGAGGTGGTCACATTGAGG AGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTC ATAGTGTGAGGGGAGGTGGTCACACTGAGGAGAGGTGGTCATAGTGTGAG GGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCA C	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0105 a0002c0009t0001g0105	1	225	0.0044	200	c.351 others(219): Show c.3514-2199_3514-2198insCTGTGAGGGGAGGTGGTCACATTGAG GAGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGT CATAGTGTGAGGGGAGGTGGTCACACTGAGGAGAGGTGGTCATAGTGTGA GGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTC ACAGTGTGAGGGGAGGTGGTCACA		CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26					INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20358211	G G	GAGGGGAG others(193): Show GAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACAGTGTGAGGGGAG GTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGAGAGGTGGTCATAG TGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGTGAGGGGA GGTGGGCACACTGTGAGGGGTGGTAGTCACACTGAGAGGAGGTGGTCACA C	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01346.hp1 HG01517.hp2 HG01192.hp2 HG01346.hp1 HG01517.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0002c0004 a0001c0003 a0002c0002 a0002c0004	a0001c0003t0001 a0002c0002t0001 a0002c0004t0001 a0001c0003t0001 a0002c0002t0001 a0002c0004t0001	a0001c0003t0001g0097 a0002c0002t0001g0086 a0002c0004t0001g0065 a0001c0003t0001g0097 a0002c0002t0001g0086 a0002c0004t0001g0065	3	232	0.0129	200	c.351 others(219): Show c.3514-1999_3514-1998insAGGGGAGGTGGTCATAGTGTGAGGGG AGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCAT AGTGTGAGGAGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGG GAGGTGGTCACACTGTGAGGGGAGGTGGGCACACTGTGAGGGGTGGTAGT CACACTGAGAGGAGGTGGTCACAC		CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26						chr20	TogoVar
CFAP77_chr9_132405211_132578319	132519499	C C	CAGGGATG others(193): Show CAGGGATGGATGGGTGGGTCGGTGGGTGGATGGATGGATGGATGAATGGA TGGATGGGTGGGTGAATGGATGGATGGGTGGGTGGCTGGGCAAGTGGATG GATAGTTGGGTGGATGGATGGTTAGGTGGATGGATGGGTGGGTGGGTGGG TAGATGGATGGATGGATGAGTGGGTGGGTGGATGCATGGATGGATGGGTG G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02486.hp1 HG02647.hp2 HG02145.hp1 HG02486.hp1 HG02647.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0167 a0001c0004t0001g0190 a0001c0004t0001g0270 a0001c0004t0001g0167 a0001c0004t0001g0190 a0001c0004t0001g0270	3	305	0.0098	200	c.525 others(219): Show c.525-18101_525-18100insGGGATGGATGGGTGGGTCGGTGGGTG GATGGATGGATGGATGAATGGATGGATGGGTGGGTGAATGGATGGATGGG TGGGTGGCTGGGCAAGTGGATGGATAGTTGGGTGGATGGATGGTTAGGTG GATGGATGGGTGGGTGGGTGGGTAGATGGATGGATGGATGAGTGGGTGGG TGGATGCATGGATGGATGGGTGGA		CFAP77	ENSG00000188523.9	transcript	ENST00000393216.3	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP77_chr9_132405211_132578319	132519499	C C	CATGGATG others(193): Show CATGGATGGATGGGTGGGTCGGTGGGTGGATGGATGGATGGATGAATGGA TGGATGGGTGGGTGAATGGATGGATGGGTGGGTGGCTGGGCAAGTGGATG GATAGTTGGGTGGATGGATGGTTAGGTGGATGGATGGGTGGGTGGGTGGG TAGATAGATGGATGGATGAGTGGGTGGGTGGATGCATGGATGGATGGGTG G	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19074.hp2 NA19078.hp1 NA19000.hp2 NA19074.hp2 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0115 a0001c0001t0001g0120 a0001c0001t0001g0121	3	305	0.0098	200	c.525 others(219): Show c.525-18094_525-18093insATGGGTGGGTCGGTGGGTGGATGGAT GGATGGATGAATGGATGGATGGGTGGGTGAATGGATGGATGGGTGGGTGG CTGGGCAAGTGGATGGATAGTTGGGTGGATGGATGGTTAGGTGGATGGAT GGGTGGGTGGGTGGGTAGATAGATGGATGGATGAGTGGGTGGGTGGATGC ATGGATGGATGGGTGGATGGATGG		CFAP77	ENSG00000188523.9	transcript	ENST00000393216.3	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP77_chr9_132405211_132578319	132519499	C C	CATGGATG others(193): Show CATGGATGGATGGGTGGGTTGGTGGGTGGATGGATGGATGGATGAATGGA TGGATGGGTGGGTGAATGGATGGATGGGTGGGTGGCTGGGCAAGTGGATG GATAGTTGGGTGGATGGATGGTTAGGTGGATGGATGGGTGGGTGGGTGGG TAGATGGATGGATGGATGAGTGGGTGGGTGGATGCATGGATGGATGGGTG G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03516.hp2 HG01884.hp1 HG03516.hp2	a0001 a0006 a0001 a0006	a0001c0004 a0006c0015 a0001c0004 a0006c0015	a0001c0004t0002 a0006c0015t0002 a0001c0004t0002 a0006c0015t0002	a0001c0004t0002g0178 a0006c0015t0002g0216 a0001c0004t0002g0178 a0006c0015t0002g0216	2	304	0.0066	200	c.525 others(219): Show c.525-18094_525-18093insATGGGTGGGTTGGTGGGTGGATGGAT GGATGGATGAATGGATGGATGGGTGGGTGAATGGATGGATGGGTGGGTGG CTGGGCAAGTGGATGGATAGTTGGGTGGATGGATGGTTAGGTGGATGGAT GGGTGGGTGGGTGGGTAGATGGATGGATGGATGAGTGGGTGGGTGGATGC ATGGATGGATGGGTGGATGGATGG		CFAP77	ENSG00000188523.9	transcript	ENST00000393216.3	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr9	TogoVar
CHMP1A_chr16_89639435_89662708	89653456	T T	TAAAAATA others(193): Show TAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCA GCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAG CTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0041 a0001c0001t0002g0041	1	390	0.0026	200	c.27+ others(213): Show c.27+447_27+448insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGG GATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTG CCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGG CTAATTTTTTGTATTTTT		CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	2/6						chr16	TogoVar
CHSY1_chr15_101170727_101257048	101185412	A A	ACCCTCCA others(193): Show ACCCTCCATGGAGCACCCTCCATCCTCCTTCCCTGTGAACACTCTCCATG GAGCACCCTCCATCCCCCTTCCCTGTGAACGCCCTCCATGGAGCACCCTC CATCCTCCTTCCCTGTGAACACTCTCCATGGAGCACCCTCCATCCTCCTT CCCTGTGAACACTCTCCATGGAGCACCCTCCATCCCCCTTCCCTGTGAAC G	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0007 a0007	a0007c0022 a0007c0022	a0007c0022t0058 a0007c0022t0058	a0007c0022t0058g0324 a0007c0022t0058g0324	1	85	0.0118	200	c.817 others(217): Show c.817-6433_817-6432insCGTTCACAGGGAAGGGGGATGGAGGGTG CTCCATGGAGAGTGTTCACAGGGAAGGAGGATGGAGGGTGCTCCATGGAG AGTGTTCACAGGGAAGGAGGATGGAGGGTGCTCCATGGAGGGCGTTCACA GGGAAGGGGGATGGAGGGTGCTCCATGGAGAGTGTTCACAGGGAAGGAGG ATGGAGGGTGCTCCATGGAGGG		CHSY1	ENSG00000131873.7	transcript	ENST00000254190.4	protein_coding	2/2						chr15	TogoVar
CHSY1_chr15_101170727_101257048	101185412	A A	ACCCTCCA others(193): Show ACCCTCCATGGAGCACCCTCCATCCTCCTTCCCTGTGAACACTCTCCATG GAGCACCCTCCATCCCCCTTCCCTGTGAACGCCCTCCATGGAGCACCCTC CATCCTCCTTCCCTGTGAACACTCTCCATGGAGCACCCTCCATCCTCCTT CCCTGTGAACGCCCTCCATGGAGCACCCTCCATCCCCCTTCCCTGTGAAC G	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0143 a0001c0003t0004g0143	1	85	0.0118	200	c.817 others(217): Show c.817-6433_817-6432insCGTTCACAGGGAAGGGGGATGGAGGGTG CTCCATGGAGGGCGTTCACAGGGAAGGAGGATGGAGGGTGCTCCATGGAG AGTGTTCACAGGGAAGGAGGATGGAGGGTGCTCCATGGAGGGCGTTCACA GGGAAGGGGGATGGAGGGTGCTCCATGGAGAGTGTTCACAGGGAAGGAGG ATGGAGGGTGCTCCATGGAGGG		CHSY1	ENSG00000131873.7	transcript	ENST00000254190.4	protein_coding	2/2						chr15	TogoVar
CLCN7_chr16_1439935_1480028	1457328	T T	TCGGCCCT others(193): Show TCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACGCGTGAC GCGGCCCTTCCTGGAGACCAGAAGGACCGATGCTCAGAGACACGCGTGAT GCGGCCCTTCCTGGAGACCAGAAGGACCGATGCTCAGAGACACGCGTGAC GCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACGCGTGAC G	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG01074.hp2 HG03239.hp1 HG01074.hp2 HG03239.hp1	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0001 a0004c0014t0001	a0004c0014t0001g0115 a0004c0014t0001g0116 a0004c0014t0001g0115 a0004c0014t0001g0116	2	397	0.0050	200	c.747 others(207): Show c.747_748insCGTCACGCGTGTCTCTGAGCACCGGTCCTTCTGGTCTC CAGGAAGGGCCGCGTCACGCGTGTCTCTGAGCATCGGTCCTTCTGGTCTC CAGGAAGGGCCGCATCACGCGTGTCTCTGAGCATCGGTCCTTCTGGTCTC CAGGAAGGGCCGCGTCACGCGTGTCTCTGAGCACCGGTCCTTCTGGTCTC CAGGAAGGGCCG	p.Met others(5): Show p.Met250fs	CLCN7	ENSG00000103249.19	transcript	ENST00000382745.9	protein_coding	9/25	801/4168	747/2418	249/805			chr16	TogoVar

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