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
VPS16_chr20_2835745_2871732	2842868	A A	AGATAGAT others(377): Show AGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTAT CGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATC	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	301	0.0033	384	c.53+ others(399): Show c.53+2072_53+2073insGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGAT AGAT	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
VPS16_chr20_2835745_2871732	2842868	A A	AGATAGAT others(377): Show AGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATC	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	301	0.0033	384	c.53+ others(399): Show c.53+2072_53+2073insGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGAT AGAT	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
XG_chrX_2747040_2821500	2773678	A A	AGAAGGAA others(377): Show AGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGCGAAGGAAGGAAGGAGCG AAGGAAGGAAGGAGCGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAA GGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGG AAGGAAGGAGAGAAGGAAGGAAGGAGCGAAGGAAGGAAGGAGCGAAGGAA GGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGG AAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGCGAAGGAAGGAA GGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGG AGAGAAGGAAGGAAGGAGCGAAGGAAGGAAGGAGC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01167.hp1 HG01169.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0026 a0002c0003t0026	a0002c0003t0026g0310 a0002c0003t0026g0311 a0002c0003t0026g0310 a0002c0003t0026g0311	2	307	0.0065	384	c.104 others(401): Show c.104-1007_104-1006insCGAAGGAAGGAAGGAGCGAAGGAAGGAA GGAGCGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGG AGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAG AGAAGGAAGGAAGGAGCGAAGGAAGGAAGGAGCGAAGGAAGGAAGGAGAG AAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAA GGAAGGAAGGAGAGAAGGAAGGAAGGAGCGAAGGAAGGAAGGAGAGAAGG AAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAA GGAAGGAGCGAAGGAAGGAAGGAGCGAAGGAAGGAAGGAGAGAAGGAAGG AAGGAG	XG	ENSG00000124343.14	transcript	ENST00000644266.2	protein_coding	2/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
ZNF354C_chr5_179055373_179088977	179088780	T T	TAAGAATT others(377): Show TAAGAATTCCTTCTTAAGTAGAGTATGTTTAAGAAGAATTCCTTCTTAAG TAGAGTATGTTTAAGAAGAATTGCTTCTTAAGTAGAGTATGTTTAAGAAG AATTCCTTCTTAAGTAGAGTATGTTTAAGAAGAATTCCTTCTTAAGTAGA GTATGTTTAAGAAGAATTCCTTCTTAAGTAGAGTATGTTTAAGAAGAATT GCTTCTTAAGTAGAGTATGTTTAAGAAGAATTCCTTCTTAAGTAGAGTAT GTTTAAGAAGAATTCCTTCTTAAGTAGAGTATGTTTAAGAAGAATTCCTT CTTAAGTAGAGTATGTTTAAGAAGAATTCCTTCTTAAGTAGAGTATGTTT AAGAAGAATTCCTTCTTAAGTAGAGTATGTTTAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0213 a0001c0001t0041g0213	1	215	0.0047	384	c.86 others(395): Show c.8683_*8684insAAGAATTCCTTCTTAAGTAGAGTATGTTTAAGAA GAATTCCTTCTTAAGTAGAGTATGTTTAAGAAGAATTGCTTCTTAAGTAG AGTATGTTTAAGAAGAATTCCTTCTTAAGTAGAGTATGTTTAAGAAGAAT TCCTTCTTAAGTAGAGTATGTTTAAGAAGAATTCCTTCTTAAGTAGAGTA TGTTTAAGAAGAATTGCTTCTTAAGTAGAGTATGTTTAAGAAGAATTCCT TCTTAAGTAGAGTATGTTTAAGAAGAATTCCTTCTTAAGTAGAGTATGTT TAAGAAGAATTCCTTCTTAAGTAGAGTATGTTTAAGAAGAATTCCTTCTT AAGTAGAGTATGTTTAAGAAGAATTCCTTCTTAAGTAGAGTATGTTTAAG	ZNF354C	ENSG00000177932.7	transcript	ENST00000315475.7	protein_coding		4804		chr5	TogoVar
ZNF354C_chr5_179055373_179088977	179088780	T T	TAAGAATT others(377): Show TAAGAATTCCTTCTTAAGTAGAGTATGTTTAAGAAGAATTCCTTCTTAAG TAGAGTATGTTTAAGAAGAATTGCTTCTTAAGTAGAGTATGTTTAAGAAG AATTCCTTCTTAAGTAGAGTATGTTTAAGAAGAATTCCTTCTTAAGTAGA GTATGTTTAAGAAGAATTCCTTCTTAAGTAGAGTATGTTTAAGAAGAATT GCTTCTTAAGTAGAGTATGTTTAAGAAGAATTGCTTCTTAAGTAGAGTAT GTTTAAGAAGAATTCCTTCTTAAGTAGAGTATGTTTAAGAAGAATTCCTT CTTAAGTAGAGTATGTTTAAGAAGAATTCCTTCTTAAGTAGAGTATGTTT AAGAAGAATTCCTTCTTAAGTAGAGTATGTTTAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0010	1	215	0.0047	384	c.86 others(395): Show c.8683_*8684insAAGAATTCCTTCTTAAGTAGAGTATGTTTAAGAA GAATTCCTTCTTAAGTAGAGTATGTTTAAGAAGAATTGCTTCTTAAGTAG AGTATGTTTAAGAAGAATTCCTTCTTAAGTAGAGTATGTTTAAGAAGAAT TCCTTCTTAAGTAGAGTATGTTTAAGAAGAATTCCTTCTTAAGTAGAGTA TGTTTAAGAAGAATTGCTTCTTAAGTAGAGTATGTTTAAGAAGAATTGCT TCTTAAGTAGAGTATGTTTAAGAAGAATTCCTTCTTAAGTAGAGTATGTT TAAGAAGAATTCCTTCTTAAGTAGAGTATGTTTAAGAAGAATTCCTTCTT AAGTAGAGTATGTTTAAGAAGAATTCCTTCTTAAGTAGAGTATGTTTAAG	ZNF354C	ENSG00000177932.7	transcript	ENST00000315475.7	protein_coding		4804		chr5	TogoVar
ZNF365_chr10_62369369_62407450	62369791	T T	TATATATG others(377): Show TATATATGTCCCATATCTATCTCATATATATGTCCCATATATATCTATCT CATATATATGTCCCATATATATCTATCTCATATATATGTCCCATATATAT CTATCTCATATATATGTCCCATATATCTATCTCATATATATGTCCCATAT ATACATATCTCATATATATGTCCCATATATACATATCTCATATATATGTC CCATATATACATATCTCATATATATGTCCCATATATACATATCTCATATA TATGTCCCATATATACATATCTCATATATATGTCCCATATATACATATCT CATATATATGTCCCATATATACATATCTCATATATATGTCCCATATATAC ATATCTCATATATATGTCCCATATATACATATCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0031 a0002c0002t0001g0031	1	166	0.0060	384	c.-46 others(395): Show c.-4681_-4680insATATATGTCCCATATCTATCTCATATATATGTCC CATATATATCTATCTCATATATATGTCCCATATATATCTATCTCATATAT ATGTCCCATATATATCTATCTCATATATATGTCCCATATATCTATCTCAT ATATATGTCCCATATATACATATCTCATATATATGTCCCATATATACATA TCTCATATATATGTCCCATATATACATATCTCATATATATGTCCCATATA TACATATCTCATATATATGTCCCATATATACATATCTCATATATATGTCC CATATATACATATCTCATATATATGTCCCATATATACATATCTCATATAT ATGTCCCATATATACATATCTCATATATATGTCCCATATATACATATCTC	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		4577		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62369791	T T	TATATATG others(377): Show TATATATGTCCCATATCTATCTCATATATATGTCCCATATATATCTATCT CATATATATGTCCCATATATATCTATCTCATATATATGTCCCATATATCT ATCTCATATATATGTCCCATATATACATATCTCATATATATGTCCCATAT ATACATATCTCATATATATGTCCCATATATACATATCTCATATATATGTC CCATATATACATATCTCATATATATGTCCCATATATACATATCTCATATA TATGTCCCATATATACATATCTCATATATATGTCCCATATATACATATCT CATATATATGTCCCATATATACATATCTCATATATATGTCCCATATATAC ATATCTCATATATATGTCCCATATATACATATCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0031 a0002c0002t0001g0031	1	166	0.0060	384	c.-46 others(395): Show c.-4681_-4680insATATATGTCCCATATCTATCTCATATATATGTCC CATATATATCTATCTCATATATATGTCCCATATATATCTATCTCATATAT ATGTCCCATATATCTATCTCATATATATGTCCCATATATACATATCTCAT ATATATGTCCCATATATACATATCTCATATATATGTCCCATATATACATA TCTCATATATATGTCCCATATATACATATCTCATATATATGTCCCATATA TACATATCTCATATATATGTCCCATATATACATATCTCATATATATGTCC CATATATACATATCTCATATATATGTCCCATATATACATATCTCATATAT ATGTCCCATATATACATATCTCATATATATGTCCCATATATACATATCTC	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		4577		chr10	TogoVar
ABR_chr17_998519_1184981	1072355	G G	GTGCCGCC others(378): Show GTGCCGCCCGTGTGTGAGAGAAGGGGACGAGGGACCTGCCGCCCGTGTGT GAGAGAAGGGGACGAGGGACCTGCCGCCCGTGTGTGAGAGAAGGGGACGA GGGACCTGCCGCCCGTGTGTGAGAGAAGGGGACGAGGGACCTGCCGCCCG TGTGTGAGAGAAGGGGACGAGGGACCTGCCGCCCGTGTGTGAGAGAAGGG GACGAGGGACCTGCCGCCCGTGTGTGAGAGAAGGGGACGAGGGACCTGCC GCCCGTGTGTGAGAGAAGGGGACGAGGGACCTGCCGCCCGTGTGTGAGAG AAGGGGACGAGGGACCTGCCGCCCGTGTGTGAGAGAAGGGGACGAGGGAC CTGCCGCCCGTGTGTGAGAGAAGGGGACGAGGGACC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01192.hp1 HG01928.hp2 others(5): Show HG01109.hp2 HG01192.hp1 HG01928.hp2 HG01975.hp2 HG01978.hp2 HG02273.hp1 HG02738.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(4): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0019 a0001c0001t0081 a0001c0003t0082	a0001c0001t0003g0223 a0001c0001t0004g0335 a0001c0001t0005g0278 others(5): Show a0001c0001t0003g0223 a0001c0001t0004g0335 a0001c0001t0005g0278 a0001c0001t0005g0319 a0001c0001t0007g0326 a0001c0001t0019g0056 a0001c0001t0081g0303 a0001c0003t0082g0286	8	46	0.1739	385	c.894 others(400): Show c.894+258_894+259insGGTCCCTCGTCCCCTTCTCTCACACACGGG CGGCAGGTCCCTCGTCCCCTTCTCTCACACACGGGCGGCAGGTCCCTCGT CCCCTTCTCTCACACACGGGCGGCAGGTCCCTCGTCCCCTTCTCTCACAC ACGGGCGGCAGGTCCCTCGTCCCCTTCTCTCACACACGGGCGGCAGGTCC CTCGTCCCCTTCTCTCACACACGGGCGGCAGGTCCCTCGTCCCCTTCTCT CACACACGGGCGGCAGGTCCCTCGTCCCCTTCTCTCACACACGGGCGGCA GGTCCCTCGTCCCCTTCTCTCACACACGGGCGGCAGGTCCCTCGTCCCCT TCTCTCACACACGGGCGGCAGGTCCCTCGTCCCCTTCTCTCACACACGGG CGGCA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	8/22			chr17	TogoVar
ABR_chr17_998519_1184981	1173220	T T	TCAACACA others(378): Show TCAACACATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACA CATCACCTCAGCCCACCCAACACATCACCTCAGTCCACCCCCCACACATC ACCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCCCCACACGTCAC CTCAGTCCACCCCCCCGACATCACCTCAGCCCACCCCCCCACACATCACC TCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATCACCTCAGTC CACTCAACACATCACCTCAGCCCACCCCCCCCATCACCTCAGCCCACCCC CCCCATCACCTCAGCCCACCCAACACATCACCTCAGTCCACTCAACACAT CACCTCAGCCCACCCCCCCCATCACCTCAGCCCACC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0219 a0001c0001t0006g0219	1	295	0.0034	385	c.61+ others(400): Show c.61+6446_61+6447insGGTGGGCTGAGGTGATGGGGGGGGTGGGCT GAGGTGATGTGTTGAGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTG ATGGGGGGGGTGGGCTGAGGTGATGGGGGGGGTGGGCTGAGGTGATGTGT TGAGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTG GGCTGAGGTGATGTGTGGGGGGGTGGGCTGAGGTGATGTCGGGGGGGTGG ACTGAGGTGACGTGTGGGGGGTGGACTGAGGTGATGTGTGGGGGGTGGAC TGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAG GTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATG TGTTG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1173247	A A	ACATCACC others(378): Show ACATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATCA CCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCCCCACACATCACC TCAGTCCACCCCCCACACGTCACCTCAGTCCACCCCCCCGACATCACCTC AGCCCACCCCCCCACACATCACCTCAGCCCACCCAACACATCACCTCAGC CCACCCAACACATCACCTCAGTCCACTCAACACATCACCTCAGCCCACCC CCCCCATCACCTCAGCCCACCCCCCCCATCACCTCAGCCCACCCAACACA TCACCTCAGCCCACCCAACACATCACCTCAGTCCACTCAACACATCACCT CAGCCCACCCCCCCCATCACCTCAGCCCACCCCCCC	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0068	a0001c0001t0068g0152 a0001c0001t0068g0152	1	202	0.0050	385	c.61+ others(400): Show c.61+6419_61+6420insGGGGGGGTGGGCTGAGGTGATGGGGGGGGT GGGCTGAGGTGATGTGTTGAGTGGACTGAGGTGATGTGTTGGGTGGGCTG AGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGGCTGAGGTGA TGGGGGGGGTGGGCTGAGGTGATGTGTTGAGTGGACTGAGGTGATGTGTT GGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTGGGGGGG TGGGCTGAGGTGATGTCGGGGGGGTGGACTGAGGTGACGTGTGGGGGGTG GACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGTGGGGGGTGGA CTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGG TGATG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ACSF3_chr16_89088852_89161233	89137338	G G	GGGTCTCG others(378): Show GGGTCTCGGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGA GCCCCGGGTCTCGGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGG GAAGAGCCCCGGGTCTCGGGAGGACCACCAGGAGCTCACGGGGAAGGATT GAGGGGAAGAGCCCCGGGTCTCGGGAGGACCACCAGGAGCTCACGGGGAA AGATTGAGGGGAAGAGCCCCAGGTCTCGGGAGGACCACCAGGAGCTCACG GGGAAAGATTGAGGGGAAGAGCCCCAGGTCTCGGGAGGACCACCAGGAGC TCACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCTCGGGAGGACCACCA GGAGCTCACGGGGAAAGATTGAGGGGAAGAGCCCCA	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0008 a0002c0011t0008	a0002c0011t0008g0135 a0002c0011t0008g0135	1	364	0.0027	385	c.136 others(404): Show c.1366+4130_1366+4131insGGGTCTCGGGAGGACCACCAGGAGCT CACGGGGAAGGATTGAGGGGAAGAGCCCCGGGTCTCGGGAGGACCACCAG GAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCGGGTCTCGGGAGGACC ACCAGGAGCTCACGGGGAAAGATTGAGGGGAAGAGCCCCAGGTCTCGGGA GGACCACCAGGAGCTCACGGGGAAAGATTGAGGGGAAGAGCCCCAGGTCT CGGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCA GGTCTCGGGAGGACCACCAGGAGCTCACGGGGAAAGATTGAGGGGAAGAG CCCCAGGTCTCGGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGGG AAGAGCCCC	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
ACSF3_chr16_89088852_89161233	89137373	G G	GGATTGAG others(378): Show GGATTGAGGGGAAGAGCCCCGGGTCCCGGGAGGACCACCAGGAGCTCACG GGGAAGGATTGAGGGGAAGAGCCCCAGGTCTCGGGAGGACCACCAGGAGC TCACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCCCGGGAGGACCACCA GGAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCTCGGGAGGAC CACCAGGAGCTCACGGGGAAAGATTGAGGGGAAGAGCCCCAGGTCTCGGG AGGACCACCAGGAGCTCACGGGGAAAGATTGAGGGGAAGAGCCCCAGGTC TCGGGAGGACCACCAGGAGCTCGTGGGGAAGGATTGAGGGGAAGAGCCCC AGGTCTCGGGAGGACCACCAGGAGCTCACGGGGAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	357	0.0028	385	c.136 others(404): Show c.1366+4130_1366+4131insGGGTCCCGGGAGGACCACCAGGAGCT CACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCTCGGGAGGACCACCAG GAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCCCGGGAGGACC ACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCTCGGGA GGACCACCAGGAGCTCACGGGGAAAGATTGAGGGGAAGAGCCCCAGGTCT CGGGAGGACCACCAGGAGCTCACGGGGAAAGATTGAGGGGAAGAGCCCCA GGTCTCGGGAGGACCACCAGGAGCTCGTGGGGAAGGATTGAGGGGAAGAG CCCCAGGTCTCGGGAGGACCACCAGGAGCTCACGGGGAAAGATTGAGGGG AAGAGCCCC	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
ADGRG2_chrX_18984307_19127468	19074544	T T	TTTCTTCT others(378): Show TTTCTTCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTCCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCCTTCTTC TTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0018 a0003c0003t0004g0018	1	123	0.0081	385	c.-1- others(400): Show c.-1-5710_-1-5709insGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAGGAGGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGGAAGAAGAAGGAAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAG GAGAAGGAGAAGGAGAAGGAGAAGGAGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAGGAGGAGGAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG AGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGAAG AAGAA	ADGRG2	ENSG00000173698.18	transcript	ENST00000379869.8	protein_coding	2/28			chrX	TogoVar
AFDN_chr6_167821911_167977023	167976167	C C	CAGGAGGC others(378): Show CAGGAGGCAGTGGGGGTCACTCCCCCTGCAGTGTGTGTGGGGAGGAGGAG GCAGTGGGGGTCACTCCCCCTGCAGTGTGTGTGGGGAGGAGGAGGCAGCG GGGGTTCACTCCCCCTGCAGTGTGTGTGGGGAGGAGGAGGCAGTGGGGGT CACTCCCCCTGCAGTGTGTTGGGAGGAGGAGGCAGTGGGGGTCATTCCCC CTGCAGTGTGTTGGGAGGAGAAGACAGTGGGGGTCATTCCCCCTGCAGTG TGGGGGGAGGAGAAGACAGTGGGGGTCATTCCCCCTGCAGTGTGTTGGGA GGAGGAGGCAGTGGGGGTCATTCCCCCTGCAGTGTGGGGGGAGGAGAAGA CAGTGGGGGTCATTCCCCCTGCAGTGTGCGGGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0123 a0001c0004t0001g0123	1	239	0.0042	385	c.62 others(396): Show c.6232_*6233insAGGAGGCAGTGGGGGTCACTCCCCCTGCAGTGTG TGTGGGGAGGAGGAGGCAGTGGGGGTCACTCCCCCTGCAGTGTGTGTGGG GAGGAGGAGGCAGCGGGGGTTCACTCCCCCTGCAGTGTGTGTGGGGAGGA GGAGGCAGTGGGGGTCACTCCCCCTGCAGTGTGTTGGGAGGAGGAGGCAG TGGGGGTCATTCCCCCTGCAGTGTGTTGGGAGGAGAAGACAGTGGGGGTC ATTCCCCCTGCAGTGTGGGGGGAGGAGAAGACAGTGGGGGTCATTCCCCC TGCAGTGTGTTGGGAGGAGGAGGCAGTGGGGGTCATTCCCCCTGCAGTGT GGGGGGAGGAGAAGACAGTGGGGGTCATTCCCCCTGCAGTGTGCGGGGAG G	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding		4145		chr6	TogoVar
AHRR_chr5_316714_443285	318069	T T	TCCCTTGC others(378): Show TCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCC CCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCCACCTCCCCCCTCCAC CTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCC TACACCTCCCCCCTCACCCTCCACCTCCCGCCCTCACCCTCCACCTCCCC CCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTAC CTCCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCCTCCCTCCCT CTCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTCACCTCCCCCCA CCTTCCACCTCCCCCCTCCACCTCCCCCCTCACTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0261 a0001c0001t0060g0261	1	92	0.0109	385	c.-37 others(396): Show c.-3761_-3760insCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCC TCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCC ACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCC CCCTCACCTCCCCCCTACACCTCCCCCCTCACCCTCCACCTCCCGCCCTC ACCCTCCACCTCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCT CCCCCCATCTTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCGCCCTGC ACCTCCTCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCACGCCC CCTCACCTCCCCCCACCTTCCACCTCCCCCCTCCACCTCCCCCCTCACTT C	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding		3644		chr5	TogoVar
AK1_chr9_127861486_127882675	127882561	G G	GGAAAGGA others(378): Show GGAAAGGAAAGGAAAGAAGGGAAAGGAAGGGAAGGGAAGCGGGGGGAGGG GAGGAGAGGGGAGGGAAGGGGAGAGGGGGAGGGGAAGAAGGGGAGGGGAA GAAGGGGAAGGGAAGAAGGGAAGAAGGGAAGGGAAGAGGGAAGGGAAGAG GGGAAGGGAACAAGGGAAGGAAAGAAGGGAAGGGAAGAAGGGAAGGGAAG GAAAGGGAAGGGAAGAGGGCGAGGGAAGGGAAGGAAAGGGGGGAGGGAAG GGGGAAGAGGGGGAGGGAAGAGAGGGAGGGAAGAGGGGAAGGGAAAAAAG GAAGAGAAGAAGGGAAGGGAAGAAGGAAAGAAGGGAAGGGAAGAAAGGAA GGGAAGAAGGGAAGGGAAGGAGGGAAGGGAAGGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 NA18963.hp1 NA18974.hp2 others(8): Show HG00558.hp1 NA18963.hp1 NA18974.hp2 NA18980.hp2 NA19002.hp2 NA19010.hp1 NA19056.hp1 NA19064.hp1 NA19066.hp1 NA19070.hp1 NA19086.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0004 a0001c0001t0019 a0003c0004t0004 a0001c0001t0004 a0001c0001t0019 a0003c0004t0004	a0001c0001t0004g0010 a0001c0001t0004g0030 a0001c0001t0004g0111 others(3): Show a0001c0001t0004g0010 a0001c0001t0004g0030 a0001c0001t0004g0111 a0001c0001t0004g0114 a0001c0001t0019g0113 a0003c0004t0004g0112	11	423	0.0260	385	c.-49 others(396): Show c.-4972_-4971insTTCCCTTCCCTTCCCTCCTTCCCTTCCCTTCTTC CCTTCCTTTCTTCCCTTCCCTTCTTTCCTTCTTCCCTTCCCTTCTTCTCT TCCTTTTTTCCCTTCCCCTCTTCCCTCCCTCTCTTCCCTCCCCCTCTTCC CCCTTCCCTCCCCCCTTTCCTTCCCTTCCCTCGCCCTCTTCCCTTCCCTT TCCTTCCCTTCCCTTCTTCCCTTCCCTTCTTTCCTTCCCTTGTTCCCTTC CCCTCTTCCCTTCCCTCTTCCCTTCCCTTCTTCCCTTCTTCCCTTCCCCT TCTTCCCCTCCCCTTCTTCCCCTCCCCCTCTCCCCTTCCCTCCCCTCTCC TCCCCTCCCCCCGCTTCCCTTCCCTTCCTTTCCCTTCTTTCCTTTCCTTT C	AK1	ENSG00000106992.19	transcript	ENST00000644144.2	protein_coding		4887		chr9	TogoVar
AK1_chr9_127861486_127882675	127882566	G G	GGAAAGGA others(378): Show GGAAAGGAAAGAAGGGAAAGGAAGGGAAGGGAAGCGGGGGGAGGGGAGGA GAGGGGAGGGAAGGGGAGAGGGGGAGGGGAAGAAGGGGAGGGGAAGAAGG GGAAGGGAAGAAGGGAAGAAGGGAAGGGAAGAGGGAAGGGAAGAGGGGAA GGGAACAAGGGAAGGAAAGAAGGGAAGGGAAGAAGGGAAGGGAAGGAAAG GGAAGGGAAGAGGGCGAGGGAAGGGAAGGAAAGAGGGGGAGGGAAGGGGG AAGAGAGGGAGGGAAGAGGGGAAGGAAAAAAGGAAGAGAAGAAGGGAAGG GAAGAAGGAAAGAAGGGAAGGGAAGAAAGGAAGGGAAGAAGGGAAGGGAA GGAGGGAAGGGAAGGGAAGAAAGGAAGGGAAGAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	15	0.0667	385	c.-49 others(396): Show c.-4977_-4976insTTCTCTTCCCTTCCTTTCTTCCCTTCCCTTCCCT CCTTCCCTTCCCTTCTTCCCTTCCTTTCTTCCCTTCCCTTCTTTCCTTCT TCCCTTCCCTTCTTCTCTTCCTTTTTTCCTTCCCCTCTTCCCTCCCTCTC TTCCCCCTTCCCTCCCCCTCTTTCCTTCCCTTCCCTCGCCCTCTTCCCTT CCCTTTCCTTCCCTTCCCTTCTTCCCTTCCCTTCTTTCCTTCCCTTGTTC CCTTCCCCTCTTCCCTTCCCTCTTCCCTTCCCTTCTTCCCTTCTTCCCTT CCCCTTCTTCCCCTCCCCTTCTTCCCCTCCCCCTCTCCCCTTCCCTCCCC TCTCCTCCCCTCCCCCCGCTTCCCTTCCCTTCCTTTCCCTTCTTTCCTTT C	AK1	ENSG00000106992.19	transcript	ENST00000644144.2	protein_coding		4892		chr9	TogoVar
AMPH_chr7_38378704_38636373	38570972	T T	TATATATT others(378): Show TATATATTTATATATATAGAATATATATATAGAATATATATTTATATATA TAGAATATATATATAGAATATATATTTATATATATAGAATATATATATAG AATATATATTTATATATATAGAATATATATTTATATATATAGAATATATA TATAGAATATATATTTATATATATAGAATATATATATAGAATATATATTT ATATATATAGAATATATATATAGAATATATATTTATATATATAGAATATA TATATAGAATATATATTTATATATATAGAATATATATATAGAATATATAT TTATATATATAGAATATATATATAGAATATATATTTATATATATAGAATA TATATATAGAATATATATATAGAATATATATATAGA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0005 a0001c0007t0005	a0001c0007t0005g0113 a0001c0007t0005g0113	1	150	0.0067	385	c.70- others(402): Show c.70-35962_70-35961insTCTATATATATATTCTATATATATATTC TATATATATATTCTATATATATAAATATATATTCTATATATATATTCTAT ATATATAAATATATATTCTATATATATATTCTATATATATAAATATATAT TCTATATATATATTCTATATATATAAATATATATTCTATATATATATTCT ATATATATAAATATATATTCTATATATATATTCTATATATATAAATATAT ATTCTATATATATATTCTATATATATAAATATATATTCTATATATATAAA TATATATTCTATATATATATTCTATATATATAAATATATATTCTATATAT ATATTCTATATATATAAATATATATTCTATATATATATTCTATATATATA AATATAT	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	1/20			chr7	TogoVar
ASCC3_chr6_100503194_100886329	100608731	T T	TTATATAT others(378): Show TTATATATATATTTTATATATATATACTTTATATATATATTTTATATATA TATACTTTATATATATATTTTATATATATATACTTTATATATATATTTTA TATATATATACTTTATATATATATTTTATATATATATACTTTATATATAT ATTTTATATATATATACTTTATATATATATTTTATATATATATACTTTAT ATATATATTTTATATATATATACTTTATATATATATTTTATATATATATA CTTTATATATATATTTTATATATATATACTTTATATATATATTTTATATA TATATACTTTATATATATATTTATACTTTATATATATATTTATATATACT TTATATATATATATATACTTTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0018 a0002c0003t0018	a0002c0003t0018g0311 a0002c0003t0018g0311	1	113	0.0088	385	c.478 others(404): Show c.4786-1644_4786-1643insTATATATATATATATAAAGTATATAT ATATATATAAAGTATATATAAATATATATATAAAGTATAAATATATATAT AAAGTATATATATATAAAATATATATATAAAGTATATATATATAAAATAT ATATATAAAGTATATATATATAAAATATATATATAAAGTATATATATATA AAATATATATATAAAGTATATATATATAAAATATATATATAAAGTATATA TATATAAAATATATATATAAAGTATATATATATAAAATATATATATAAAG TATATATATATAAAATATATATATAAAGTATATATATATAAAATATATAT ATAAAGTATATATATATAAAATATATATATAAAGTATATATATATAAAAT ATATATATA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ATP10B_chr5_160558120_160857211	160653921	A A	AATATATG others(378): Show AATATATGTTGTATATACGTATATACATATATAAATATATGTTGTATATA CGTATATACATATATAAATATATGTTGTATATACGTATATACATATATAA ATATATGTTGTATATACGTATATACATATATAAATATATGTTGTATATAC GTATATACATATATAAATATATGTTGTATATACGTATATACTATATATGT TGTATATACGTATATACAACATAAATATATGTTGTATATACGTATATACA ACATAAATATATGTTGTATATACGTATATACAACATAAATATATGTTGTA TATACGTATATACAACATAAATATATGTTGTATATACGTATATACAACAT AAATATATGTTGTATATACGTATATACAACATAAAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02818.hp2 HG02145.hp1 HG02818.hp2	a0006 a0006	a0006c0018 a0006c0018	a0006c0018t0021 a0006c0018t0034 a0006c0018t0021 a0006c0018t0034	a0006c0018t0021g0205 a0006c0018t0034g0208 a0006c0018t0021g0205 a0006c0018t0034g0208	2	99	0.0202	385	c.676 others(402): Show c.676-4666_676-4665insATTTATGTTGTATATACGTATATACAAC ATATATTTATGTTGTATATACGTATATACAACATATATTTATGTTGTATA TACGTATATACAACATATATTTATGTTGTATATACGTATATACAACATAT ATTTATGTTGTATATACGTATATACAACATATATTTATGTTGTATATACG TATATACAACATATATAGTATATACGTATATACAACATATATTTATATAT GTATATACGTATATACAACATATATTTATATATGTATATACGTATATACA ACATATATTTATATATGTATATACGTATATACAACATATATTTATATATG TATATACGTATATACAACATATATTTATATATGTATATACGTATATACAA CATATAT	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25			chr5	TogoVar
B3GNTL1_chr17_82937149_83056770	82972573	C C	CCACAGCA others(378): Show CCACAGCACACCACAGGGGCCAGAAGGACCTGGTACTGACCACACCACAC CACGGGCCAGAAGGACCTGGTGCCGACACACCACACCATGGGCCAGAAGG ACCTGGTGCCGACCACACCACACTCATAGGGGCCAGAAGGACCCGGTACT GACCACACCACACCACAGGGGCCAGAAGGACCTGGTACTGACCACACCAC ACCACAGGGGCCAGAAGGACCTGGTACTGACCACACCACACCACAGGGGA TAGAAGGACCCAGTACTGACCACACCACACCACAGGGGCTAGAAGGACCT GGTGCCGACCACAGCACACCACAGGGGCTAGAAGGACCTGGTGCTGACCA CACCACACCACAGGGGCTAGAAGGACCTGGTGCCGA	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0009 a0001c0007t0009	a0001c0007t0009g0254 a0001c0007t0009g0254	1	266	0.0038	385	c.460 others(402): Show c.460-6828_460-6827insTCGGCACCAGGTCCTTCTAGCCCCTGTG GTGTGGTGTGGTCAGCACCAGGTCCTTCTAGCCCCTGTGGTGTGCTGTGG TCGGCACCAGGTCCTTCTAGCCCCTGTGGTGTGGTGTGGTCAGTACTGGG TCCTTCTATCCCCTGTGGTGTGGTGTGGTCAGTACCAGGTCCTTCTGGCC CCTGTGGTGTGGTGTGGTCAGTACCAGGTCCTTCTGGCCCCTGTGGTGTG GTGTGGTCAGTACCGGGTCCTTCTGGCCCCTATGAGTGTGGTGTGGTCGG CACCAGGTCCTTCTGGCCCATGGTGTGGTGTGTCGGCACCAGGTCCTTCT GGCCCGTGGTGTGGTGTGGTCAGTACCAGGTCCTTCTGGCCCCTGTGGTG TGCTGTG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
BOK_chr2_241553745_241579131	241570600	G G	GTCTGAGC others(378): Show GTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGT ACGGGAGGGAGTGGCGGATGGGTGAGCCTCTGAGCGCCTGTGGGGGTGGG AGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAATGGCGGATGGGT GAGCCTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTACAG ACGTACGGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGCGCCTGTGGGGG TGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAGTGGCGGAT GGGTGAGCCTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGT GCAGAGGTATGGGAGGGAGTGGCGGATGGGTGAGCC	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0089 a0001c0001t0002g0089	1	431	0.0023	385	c.513 others(400): Show c.513+363_513+364insGGGAGGGAGTGGCGGATGGGTGAGCCTCTG AGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGG AGGGAATGGCGGATGGGTGAGCCTCTGAGCGCCTGTGGGGGTGGGAGAGC TGGGGTGCGAGGGTACAGACGTACGGGAGGGAGTGGCGGATGGGTGAGTG TCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTA CGGGAGGGAGTGGCGGATGGGTGAGCCTCTGAGCGCCTGTGGGGGTGGGA GAGCTGGGGTGCGAGGGTGCAGAGGTATGGGAGGGAGTGGCGGATGGGTG AGCCTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGA GGTAC	BOK	ENSG00000176720.6	transcript	ENST00000318407.5	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
C8orf82_chr8_144520733_144534111	144531191	A A	AGAGCAGC others(378): Show AGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAAGGC AGCGAGCAGCAGGTGGGGAGTGGGCTAGACACAGCAGGCACGGCAGAAAG GCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAA GGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAG AAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAG GCACAGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGC AGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCT AGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	235	0.0043	385	c.-22 others(396): Show c.-2276_-2275insCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGC CTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCTGT GCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCC TTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTTGCTGC CCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCT GCCTTTCTGCCGTGCCTGCTGTGTCTAGCCCACTCCCCACCTGCTGCTCG CTGCCTTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCT C	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2081		chr8	TogoVar
CACNA1I_chr22_39565753_39694735	39602018	C C	CTCCCTCC others(378): Show CTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCT TCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCC CTTCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCTT CCTTCCTTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCTCTCTCTTT CTTTCGCCCGCCCTCCCTCTCTCCCTCCCTCCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCTTCCT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0003 a0003	a0003c0024 a0003c0024	a0003c0024t0005 a0003c0024t0005	a0003c0024t0005g0174 a0003c0024t0005g0174	1	22	0.0455	385	c.482 others(402): Show c.482+1368_482+1369insCTCCCTCCCTCCCTTCCTTCCTTCCTTC CTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCT CCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTTCCTTCCTTCC TTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCTT CCTTCCTTCTCTCTCTTTCTTTCGCCCGCCCTCCCTCTCTCCCTCCCTCC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCT TCCTTCC	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	3/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CAPN11_chr6_44153820_44189401	44181863	A A	ACACACAC others(378): Show ACACACACACACACATACACACTCACATACAGACACAACCACACCACACT CACACACACATACACACTCACATACAGACACAACCACACCACACTCACAC ACACACACACACACTCACATACAGACACAACCACACCACACACACACACA CTCACAGACACAACCACACCACACACACATACACACTCACATACAGACAC AACCACACCACACTCACACATACACACTCACATACAGACACAACCACACC ACACTCACACACACATACACACTCACATACAGACACAACCACACCACACT CACACACACACATACACACTCACATACAGACACAACCACACCACACACAC ATACACACTCACATACAGACACAACCACACCACACT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	435	0.0023	385	c.193 others(402): Show c.1938+553_1938+554insCACATACACACTCACATACAGACACAAC CACACCACACTCACACACACATACACACTCACATACAGACACAACCACAC CACACTCACACACACACACACACACTCACATACAGACACAACCACACCAC ACACACACACACTCACAGACACAACCACACCACACACACATACACACTCA CATACAGACACAACCACACCACACTCACACATACACACTCACATACAGAC ACAACCACACCACACTCACACACACATACACACTCACATACAGACACAAC CACACCACACTCACACACACACATACACACTCACATACAGACACAACCAC ACCACACACACATACACACTCACATACAGACACAACCACACCACACTCAC ACACACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN11_chr6_44153820_44189401	44181926	T T	TCACATAC others(378): Show TCACATACAGACACAACCACACGACACTCACACACACATACACACTCACA TACAGACACAACCACACGACACTCACACACACATACACACTCACATACAG ACACAACCACACCACACTCACACACACACACACACTCACATACAGACACA ACCACACCACACTCACACACACATACACACTCACATACAGACACAACCAC ACCACACTCACACACACATACACACTCACATACAGACACAACCACACCAC ACTCACACACACATACACACTCAAATACAGACACAACCACACCACACTCA CACACACACACACTCACATACAGACACAACCACACCACACACACACACAC ACATACAGACACAACCACACCACACACACATACACA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	424	0.0024	385	c.193 others(402): Show c.1938+627_1938+628insGACACTCACACACACATACACACTCACA TACAGACACAACCACACGACACTCACACACACATACACACTCACATACAG ACACAACCACACCACACTCACACACACACACACACTCACATACAGACACA ACCACACCACACTCACACACACATACACACTCACATACAGACACAACCAC ACCACACTCACACACACATACACACTCACATACAGACACAACCACACCAC ACTCACACACACATACACACTCAAATACAGACACAACCACACCACACTCA CACACACACACACTCACATACAGACACAACCACACCACACACACACACAC ACATACAGACACAACCACACCACACACACATACACACACATACAGACACA ACCACAC	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CASP8_chr2_201255536_201292709	201284695	G G	GGGGAGAG others(378): Show GGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAG ACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGG GGAGAGGGAGAGGGAGACGGGAGACGGGGAGAGGGAGAGGGAGACGGGAG ACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGG GGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAG AGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGG AGGCGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAG AGGGAGAGGGAGACGAGAGGGAGAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0213 a0001c0001t0015g0213	1	220	0.0045	385	c.803 others(399): Show c.803-100_803-99insAGACGGGGAGAGGGAGAGGGAGAGGGAGACG GGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGA GAGGGAGAGGGAGACGGGAGACGGGGAGAGGGAGAGGGAGACGGGAGACG GGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGA GAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGG GAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGG CGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGG GAGAGGGAGACGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGG	CASP8	ENSG00000064012.24	transcript	ENST00000673742.1	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CCDC170_chr6_151489017_151626193	151499109	T T	TGCTGTAT others(378): Show TGCTGTATAAGTGGAATCAGACTGTATTGACTATTCTAGGCATGCTGTAT AAGTGGAATCATACTGTATTTGACTATACTAGGCACTCTGTATAAGTGGA ATCAGACTGTAGTTGACTATTCTAGGCATGCTGTATATGTGGAATCATAC TGTATTTGACTATTTTAGGCATGGTGTATAAGTGGAATCATACTGTATTT AACTATTCTACGCATGCTGTATAAGTGGAATCAGACTGTATTTGACTATT CTAGGCACGCTGTATAAGTGGAGTCAGAGTGTATTTAACTATTCTAGCCA TTCTGTGTAAGTGGAATCATGCTGTATTTGACTCTTCTAGGCATTCTGTA TAAGTGGAATCAGACTGTATTGACTATTCTAGGCAC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0209 a0002c0003t0001g0209	1	281	0.0036	385	c.57+ others(400): Show c.57+4942_57+4943insGACTGTATTGACTATTCTAGGCATGCTGTA TAAGTGGAATCATACTGTATTTGACTATACTAGGCACTCTGTATAAGTGG AATCAGACTGTAGTTGACTATTCTAGGCATGCTGTATATGTGGAATCATA CTGTATTTGACTATTTTAGGCATGGTGTATAAGTGGAATCATACTGTATT TAACTATTCTACGCATGCTGTATAAGTGGAATCAGACTGTATTTGACTAT TCTAGGCACGCTGTATAAGTGGAGTCAGAGTGTATTTAACTATTCTAGCC ATTCTGTGTAAGTGGAATCATGCTGTATTTGACTCTTCTAGGCATTCTGT ATAAGTGGAATCAGACTGTATTGACTATTCTAGGCACGCTGTATAAGTGG AATCA	CCDC170	ENSG00000120262.10	transcript	ENST00000239374.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
CHFR_chr12_132827356_132892605	132836072	C C	CCAGGCTC others(378): Show CCAGGCTCCCAGCACGGCGCACGGCACTCACAGTGACAGGCTCCCAGCAC GGCGCACGGCACTCACAGTGCCAGGCTCCCAGCACGGCGCACGGCACTCA CAGTGCCAGGCTCCCAGCACGGCGCACGGCACTCACAGTGACAGGCTCCC AGCACGGCGCACGGCACTCACAGTGCCAGGCTCCCAGCACGGCGCACGGC ACTCACAGTGCCAGGCTCCCAGCACGGCGCACGGCACTCACAGTGCCAGG CTCCCAGCACGGCGCACGGCCCTCACAGTGACAGGCTCCCAGCACGGCGC ACGGCCCTCACAGTGACAGGCTCCCAGCACGGCGCACGGCCCTCACAGTG ACAGGCTCCCAGCACGGCGCACGGCCCTCACAGTGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00741.hp2 HG01496.hp1 HG01928.hp1 others(8): Show HG00741.hp2 HG01496.hp1 HG01928.hp1 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG02056.hp2 HG02165.hp1 NA18954.hp1 NA19010.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0092 a0001c0001t0093 others(1): Show a0001c0001t0009 a0001c0001t0092 a0001c0001t0093 a0001c0001t0108	a0001c0001t0009g0004 a0001c0001t0009g0236 a0001c0001t0009g0249 others(6): Show a0001c0001t0009g0004 a0001c0001t0009g0236 a0001c0001t0009g0249 a0001c0001t0009g0259 a0001c0001t0009g0301 a0001c0001t0009g0303 a0001c0001t0092g0283 a0001c0001t0093g0268 a0001c0001t0108g0260	11	128	0.0859	385	c.54 others(396): Show c.5481_*5482insTCACTGTGAGGGCCGTGCGCCGTGCTGGGAGCCT GTCACTGTGAGGGCCGTGCGCCGTGCTGGGAGCCTGTCACTGTGAGGGCC GTGCGCCGTGCTGGGAGCCTGTCACTGTGAGGGCCGTGCGCCGTGCTGGG AGCCTGGCACTGTGAGTGCCGTGCGCCGTGCTGGGAGCCTGGCACTGTGA GTGCCGTGCGCCGTGCTGGGAGCCTGGCACTGTGAGTGCCGTGCGCCGTG CTGGGAGCCTGTCACTGTGAGTGCCGTGCGCCGTGCTGGGAGCCTGGCAC TGTGAGTGCCGTGCGCCGTGCTGGGAGCCTGGCACTGTGAGTGCCGTGCG CCGTGCTGGGAGCCTGTCACTGTGAGTGCCGTGCGCCGTGCTGGGAGCCT G	CHFR	ENSG00000072609.18	transcript	ENST00000450056.7	protein_coding	18/18	5481		chr12	TogoVar
CHFR_chr12_132827356_132892605	132836097	A A	ACTCACAG others(378): Show ACTCACAGTGACAGGCTCCCAGCACGGCGCACGGCACTCACAGTGACAGG CTCCCAGCACGGCGCACGGCACTCACAGTGCCAGGCTCCCAGCACGGCGC ACGGCACTCACAGTGACAGGCTCCCAGCACGGCGCACGGCACTCACAGTG CCAGGCTCCCAGCACGGCGCACGGCACTCACAGTGCCAGGCTCCCAGCAC GGCGCACGGCACTCACAGTGCCAGGCTCCCAGCACGGCGCACGGCCCTCA CAGTGACAGGCTCCCAGCACGGCGCACGGCCCTCACAGTGACAGGCTCCC AGCACGGCGCACGGCCCTCACAGTGACAGGCTCCCAGCACGGCGCACGGC CCTCACAGTGACAGGCTCCCAGCACGGCGCACGGCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18975.hp2 NA19065.hp2 NA19083.hp1 NA18975.hp2 NA19065.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0020 a0001c0001t0026g0269 a0001c0001t0026g0020 a0001c0001t0026g0269	3	349	0.0086	385	c.54 others(396): Show c.5456_*5457insGGCCGTGCGCCGTGCTGGGAGCCTGTCACTGTGA GGGCCGTGCGCCGTGCTGGGAGCCTGTCACTGTGAGGGCCGTGCGCCGTG CTGGGAGCCTGTCACTGTGAGGGCCGTGCGCCGTGCTGGGAGCCTGTCAC TGTGAGGGCCGTGCGCCGTGCTGGGAGCCTGGCACTGTGAGTGCCGTGCG CCGTGCTGGGAGCCTGGCACTGTGAGTGCCGTGCGCCGTGCTGGGAGCCT GGCACTGTGAGTGCCGTGCGCCGTGCTGGGAGCCTGTCACTGTGAGTGCC GTGCGCCGTGCTGGGAGCCTGGCACTGTGAGTGCCGTGCGCCGTGCTGGG AGCCTGTCACTGTGAGTGCCGTGCGCCGTGCTGGGAGCCTGTCACTGTGA G	CHFR	ENSG00000072609.18	transcript	ENST00000450056.7	protein_coding	18/18	5456		chr12	TogoVar
CHFR_chr12_132827356_132892605	132836097	A A	ACTCACAG others(378): Show ACTCACAGTGACAGGCTCCCAGCACGGCGCACGGCACTCACAGTGACAGG CTCCCAGCACGGCGCACGGCACTCACAGTGCCAGGCTCCCAGCACGGCGC ACGGCACTCACAGTGCCAGGCTCCCAGCACGGCGCACGGCACTCACAGTG ACAGGCTCCCAGCACGGCGCACGGCACTCACAGTGCCAGGCTCCCAGCAC GGCGCACGGCACTCACAGTGCCAGGCTCCCAGCACGGCGCACGGCACTCA CAGTGCCAGGCTCCCAGCACGGCGCACGGCCCTCACAGTGACAGGCTCCC AGCACGGCGCACGGCCCTCACAGTGACAGGCTCCCAGCACGGCGCACGGC CCTCACAGTGACAGGCTCCCAGCACGGCGCACGGCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00597.hp2 NA18950.hp2 NA18963.hp2 others(5): Show HG00597.hp2 NA18950.hp2 NA18963.hp2 NA18970.hp1 NA18983.hp2 NA19056.hp2 NA19057.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0112 a0001c0001t0011 a0001c0001t0112	a0001c0001t0011g0018 a0001c0001t0011g0239 a0001c0001t0011g0257 others(4): Show a0001c0001t0011g0018 a0001c0001t0011g0239 a0001c0001t0011g0257 a0001c0001t0011g0263 a0001c0001t0011g0284 a0001c0001t0011g0287 a0001c0001t0112g0285	8	354	0.0226	385	c.54 others(396): Show c.5456_*5457insGGCCGTGCGCCGTGCTGGGAGCCTGTCACTGTGA GGGCCGTGCGCCGTGCTGGGAGCCTGTCACTGTGAGGGCCGTGCGCCGTG CTGGGAGCCTGTCACTGTGAGGGCCGTGCGCCGTGCTGGGAGCCTGGCAC TGTGAGTGCCGTGCGCCGTGCTGGGAGCCTGGCACTGTGAGTGCCGTGCG CCGTGCTGGGAGCCTGGCACTGTGAGTGCCGTGCGCCGTGCTGGGAGCCT GTCACTGTGAGTGCCGTGCGCCGTGCTGGGAGCCTGGCACTGTGAGTGCC GTGCGCCGTGCTGGGAGCCTGGCACTGTGAGTGCCGTGCGCCGTGCTGGG AGCCTGTCACTGTGAGTGCCGTGCGCCGTGCTGGGAGCCTGTCACTGTGA G	CHFR	ENSG00000072609.18	transcript	ENST00000450056.7	protein_coding	18/18	5456		chr12	TogoVar
CHFR_chr12_132827356_132892605	132836097	A A	ACTCACAG others(378): Show ACTCACAGTGACAGGCTCCCAGCACGGCGCACGGCACTCACAGTGCCAGG CTCCCAGCACGGCGCACGGCACTCACAGTGCCAGGCTCCCAGCACGGCGC ACGGCACTCACAGTGCCAGGCTCCCAGCACGGCGCACGGCACTCACAGTG CCAGGCTCCCAGCACGGCGCACGGCACTCACAGTGCCAGGCTCCCAGCAC GGCGCACGGCACTCACAGTGCCAGGCTCCCAGCACGGCGCACGGCCCTCA CAGTGCCAGGCTCCCAGCACGGCGCACGGCCCTCACAGTGACAGGCTCCC AGCACGGCGCACGGCCCTCACAGTGACAGGCTCCCAGCACGGCGCACGGC CCTCACAGTGACAGGCTCCCAGCACGGCGCACGGCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG02922.hp1 others(3): Show HG01167.hp1 HG01169.hp1 HG02922.hp1 HG03209.hp1 HG03516.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0005 a0001c0001t0014g0276 a0001c0001t0014g0277 others(1): Show a0001c0001t0014g0005 a0001c0001t0014g0276 a0001c0001t0014g0277 a0001c0001t0014g0278	6	352	0.0170	385	c.54 others(396): Show c.5456_*5457insGGCCGTGCGCCGTGCTGGGAGCCTGTCACTGTGA GGGCCGTGCGCCGTGCTGGGAGCCTGTCACTGTGAGGGCCGTGCGCCGTG CTGGGAGCCTGTCACTGTGAGGGCCGTGCGCCGTGCTGGGAGCCTGGCAC TGTGAGGGCCGTGCGCCGTGCTGGGAGCCTGGCACTGTGAGTGCCGTGCG CCGTGCTGGGAGCCTGGCACTGTGAGTGCCGTGCGCCGTGCTGGGAGCCT GGCACTGTGAGTGCCGTGCGCCGTGCTGGGAGCCTGGCACTGTGAGTGCC GTGCGCCGTGCTGGGAGCCTGGCACTGTGAGTGCCGTGCGCCGTGCTGGG AGCCTGGCACTGTGAGTGCCGTGCGCCGTGCTGGGAGCCTGTCACTGTGA G	CHFR	ENSG00000072609.18	transcript	ENST00000450056.7	protein_coding	18/18	5456		chr12	TogoVar
CHFR_chr12_132827356_132892605	132836107	C C	CCAGGCTC others(378): Show CCAGGCTCCCAGCACGGCGCACGGCACTCACAGTGCCAGGCTCCCAGCAC GGCGCACGGCACTCACAGTGCCAGGCTCCCAGCACGGCGCACGGCACTCA CAGTGCCAGGCTCCCAGCACGGCGCACGGCACTCACAGTGCCAGGCTCCC AGCACGGCGCACGGCACTCACAGTGCCAGGCTCCCAGCACGGCGCACGGC ACTCACAGTGCCAGGCTCCCAGCACGGCGCACGGCACTCACAGTGCCAGG CTCCCAGCACGGCGCACGGCCCTCACAGTGACAGGCTCCCAGCACGGCGC ACGGCCCTCACAGTGACAGGCTCCCAGCACGGCGCACGGCCCTCACAGTG ACAGGCTCCCAGCACGGCGCACGGCCCTCACAGTGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0101 a0001c0001t0101	a0001c0001t0101g0305 a0001c0001t0101g0305	1	196	0.0051	385	c.54 others(396): Show c.5446_*5447insTCACTGTGAGGGCCGTGCGCCGTGCTGGGAGCCT GTCACTGTGAGGGCCGTGCGCCGTGCTGGGAGCCTGTCACTGTGAGGGCC GTGCGCCGTGCTGGGAGCCTGTCACTGTGAGGGCCGTGCGCCGTGCTGGG AGCCTGGCACTGTGAGTGCCGTGCGCCGTGCTGGGAGCCTGGCACTGTGA GTGCCGTGCGCCGTGCTGGGAGCCTGGCACTGTGAGTGCCGTGCGCCGTG CTGGGAGCCTGGCACTGTGAGTGCCGTGCGCCGTGCTGGGAGCCTGGCAC TGTGAGTGCCGTGCGCCGTGCTGGGAGCCTGGCACTGTGAGTGCCGTGCG CCGTGCTGGGAGCCTGGCACTGTGAGTGCCGTGCGCCGTGCTGGGAGCCT G	CHFR	ENSG00000072609.18	transcript	ENST00000450056.7	protein_coding	18/18	5446		chr12	TogoVar
CHFR_chr12_132827356_132892605	132836107	C C	CCAGGCTC others(378): Show CCAGGCTCCCAGCACGGCGCACGGCACTCACAGTGCCAGGCTCCCAGCAC GGCGCACGGCACTCACAGTGCCAGGCTCCCAGCACGGCGCACGGCACTCA CAGTGCCAGGCTCCCAGCACGGCGCACGGCACTCACAGTGCCAGGCTCCC AGCACGGCGCACGGCACTCACAGTGCCAGGCTCCCAGCACGGCGCACGGC ACTCACAGTGCCAGGCTCCCAGCACGGCGCACGGCCCTCACAGTGCCAGG CTCCCAGCACGGCGCACGGCCCTCACAGTGACAGGCTCCCAGCACGGCGC ACGGCCCTCACAGTGACAGGCTCCCAGCACGGCGCACGGCCCTCACAGTG ACAGGCTCCCAGCACGGCGCACGGCCCTCACAGTGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0091 a0001c0001t0091	a0001c0001t0091g0281 a0001c0001t0091g0281	1	196	0.0051	385	c.54 others(396): Show c.5446_*5447insTCACTGTGAGGGCCGTGCGCCGTGCTGGGAGCCT GTCACTGTGAGGGCCGTGCGCCGTGCTGGGAGCCTGTCACTGTGAGGGCC GTGCGCCGTGCTGGGAGCCTGTCACTGTGAGGGCCGTGCGCCGTGCTGGG AGCCTGGCACTGTGAGGGCCGTGCGCCGTGCTGGGAGCCTGGCACTGTGA GTGCCGTGCGCCGTGCTGGGAGCCTGGCACTGTGAGTGCCGTGCGCCGTG CTGGGAGCCTGGCACTGTGAGTGCCGTGCGCCGTGCTGGGAGCCTGGCAC TGTGAGTGCCGTGCGCCGTGCTGGGAGCCTGGCACTGTGAGTGCCGTGCG CCGTGCTGGGAGCCTGGCACTGTGAGTGCCGTGCGCCGTGCTGGGAGCCT G	CHFR	ENSG00000072609.18	transcript	ENST00000450056.7	protein_coding	18/18	5446		chr12	TogoVar
CHFR_chr12_132827356_132892605	132836121	C C	CGGCGCAC others(378): Show CGGCGCACGGCACTCACAGTGACAGGCTCCCAGCACGGCGCACGGCACTC ACAGTGCCAGGCTCCCAGCACGGCGCACGGCACTCACAGTGACAGGCTCC CAGCACGGCGCACGGCACTCACAGTGACAGGCTCCCAGCACGGCGCACGG CACTCACAGTGCCAGGCTCCCAGCACGGCGCACGGCACTCACAGTGCCAG GCTCCCAGCACGGCGCACGGCCCTCACAGTGACAGGCTCCCAGCACGGCG CACGGCCCTCACAGTGACAGGCTCCCAGCACGGCGCACGGCCCTCACAGT GACAGGCTCCCAGCACGGCGCACGGCCCTCACAGTGACAGGCTCCCAGCA CGGCGCACGGCACTCACAGTGACAGGCTCCCAGCAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18952.hp1 NA18991.hp2 NA18952.hp1 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0110 a0001c0001t0115 a0001c0001t0110 a0001c0001t0115	a0001c0001t0110g0230 a0001c0001t0115g0231 a0001c0001t0110g0230 a0001c0001t0115g0231	2	359	0.0056	385	c.54 others(396): Show c.5432_*5433insCTGCTGGGAGCCTGTCACTGTGAGTGCCGTGCGC CGTGCTGGGAGCCTGTCACTGTGAGGGCCGTGCGCCGTGCTGGGAGCCTG TCACTGTGAGGGCCGTGCGCCGTGCTGGGAGCCTGTCACTGTGAGGGCCG TGCGCCGTGCTGGGAGCCTGTCACTGTGAGGGCCGTGCGCCGTGCTGGGA GCCTGGCACTGTGAGTGCCGTGCGCCGTGCTGGGAGCCTGGCACTGTGAG TGCCGTGCGCCGTGCTGGGAGCCTGTCACTGTGAGTGCCGTGCGCCGTGC TGGGAGCCTGTCACTGTGAGTGCCGTGCGCCGTGCTGGGAGCCTGGCACT GTGAGTGCCGTGCGCCGTGCTGGGAGCCTGTCACTGTGAGTGCCGTGCGC C	CHFR	ENSG00000072609.18	transcript	ENST00000450056.7	protein_coding	18/18	5432		chr12	TogoVar
CHFR_chr12_132827356_132892605	132836121	C C	CGGCGCAC others(378): Show CGGCGCACGGCACTCACAGTGCCAGGCTCCCAGCACGGCGCACGGCACTC ACAGTGCCAGGCTCCCAGCACGGCGCACGGCACTCACAGTGACAGGCTCC CAGCACGGCGCACGGCACTCACAGTGCCAGGCTCCCAGCACGGCGCACGG CACTCACAGTGCCAGGCTCCCAGCACGGCGCACGGCACTCACAGTGCCAG GCTCCCAGCACGGCGCACGGCCCTCACAGTGACAGGCTCCCAGCACGGCG CACGGCCCTCACAGTGACAGGCTCCCAGCACGGCGCACGGCCCTCACAGT GACAGGCTCCCAGCACGGCGCACGGCCCTCACAGTGACAGGCTCCCAGCA CGGCGCACGGCACTCACAGTGACAGGCTCCCAGCAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00323.hp1 HG00597.hp1 HG00673.hp2 others(14): Show HG00323.hp1 HG00597.hp1 HG00673.hp2 HG01952.hp1 HG02109.hp2 HG02486.hp2 HG02622.hp2 HG02895.hp1 NA18522.hp2 NA18977.hp1 NA18979.hp2 NA18992.hp1 NA18994.hp2 NA19012.hp1 NA19058.hp1 NA19087.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0015 a0001c0001t0016 others(5): Show a0001c0001t0007 a0001c0001t0015 a0001c0001t0016 a0001c0001t0081 a0001c0001t0082 a0001c0001t0084 a0001c0001t0085 a0001c0001t0087	a0001c0001t0007g0307 a0001c0001t0015g0233 a0001c0001t0015g0241 others(14): Show a0001c0001t0007g0307 a0001c0001t0015g0233 a0001c0001t0015g0241 a0001c0001t0015g0243 a0001c0001t0015g0291 a0001c0001t0015g0295 a0001c0001t0015g0297 a0001c0001t0016g0232 a0001c0001t0016g0244 a0001c0001t0016g0245 a0001c0001t0016g0246 a0001c0001t0016g0299 a0001c0001t0081g0242 a0001c0001t0082g0270 a0001c0001t0084g0262 a0001c0001t0085g0296 a0001c0001t0087g0267	17	374	0.0455	385	c.54 others(396): Show c.5432_*5433insCTGCTGGGAGCCTGTCACTGTGAGTGCCGTGCGC CGTGCTGGGAGCCTGTCACTGTGAGGGCCGTGCGCCGTGCTGGGAGCCTG TCACTGTGAGGGCCGTGCGCCGTGCTGGGAGCCTGTCACTGTGAGGGCCG TGCGCCGTGCTGGGAGCCTGTCACTGTGAGGGCCGTGCGCCGTGCTGGGA GCCTGGCACTGTGAGTGCCGTGCGCCGTGCTGGGAGCCTGGCACTGTGAG TGCCGTGCGCCGTGCTGGGAGCCTGGCACTGTGAGTGCCGTGCGCCGTGC TGGGAGCCTGTCACTGTGAGTGCCGTGCGCCGTGCTGGGAGCCTGGCACT GTGAGTGCCGTGCGCCGTGCTGGGAGCCTGGCACTGTGAGTGCCGTGCGC C	CHFR	ENSG00000072609.18	transcript	ENST00000450056.7	protein_coding	18/18	5432		chr12	TogoVar
CHFR_chr12_132827356_132892605	132836132	A A	ACTCACAG others(378): Show ACTCACAGTGACAGGCTCCCAGCACGGCGCACGGCACTCACAGTGCCAGG CTCCCAGCACGGCGCACGGCACTCACAGTGCCAGGCTCCCAGCACGGCGC ACGGCACTCACAGTGACAGGCTCCCAGCACGGCGCACGGCACTCACAGTG CCAGGCTCCCAGCACGGCGCACGGCACTCACAGTGCCAGGCTCCCAGCAC GGCGCACGGCACTCACAGTGCCAGGCTCCCAGCACGGCGCACGGCCCTCA CAGTGACAGGCTCCCAGCACGGCGCACGGCCCTCACAGTGACAGGCTCCC AGCACGGCGCACGGCCCTCACAGTGACAGGCTCCCAGCACGGCGCACGGC CCTCACAGTGACAGGCTCCCAGCACGGCGCACGGCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0111 a0001c0001t0111	a0001c0001t0111g0256 a0001c0001t0111g0256	1	342	0.0029	385	c.54 others(396): Show c.5421_*5422insGGCCGTGCGCCGTGCTGGGAGCCTGTCACTGTGA GGGCCGTGCGCCGTGCTGGGAGCCTGTCACTGTGAGGGCCGTGCGCCGTG CTGGGAGCCTGTCACTGTGAGGGCCGTGCGCCGTGCTGGGAGCCTGTCAC TGTGAGGGCCGTGCGCCGTGCTGGGAGCCTGGCACTGTGAGTGCCGTGCG CCGTGCTGGGAGCCTGGCACTGTGAGTGCCGTGCGCCGTGCTGGGAGCCT GGCACTGTGAGTGCCGTGCGCCGTGCTGGGAGCCTGTCACTGTGAGTGCC GTGCGCCGTGCTGGGAGCCTGGCACTGTGAGTGCCGTGCGCCGTGCTGGG AGCCTGGCACTGTGAGTGCCGTGCGCCGTGCTGGGAGCCTGTCACTGTGA G	CHFR	ENSG00000072609.18	transcript	ENST00000450056.7	protein_coding	18/18	5421		chr12	TogoVar
CHFR_chr12_132827356_132892605	132836282	C C	CCAGGCTC others(378): Show CCAGGCTCCCAGCACGGCGCACGGCACTCACAGTGCCAGGCTCCCAGCAC GGCGCACGGCCCTCACAGTGACAGGCTCCCAGCACGGCGCACGGCCCTCA CAGTGACAGGCTCCCAGCACGGCGCACGGCCCTCACAGTGACAGGCTCCC AGCACGGCGCACGGCCCTCACAGTGACAGGCTCCCAGCACGGCGCACGGC ACTCACAGTGCCAGGCTCCCAGCAGGGCGCACGGCACTCACAGTGACAGG CTCCCAGCACGGCGCACGGCACTCACAGTGCCAGGCTCCCAGCACGGCGC ACGGCACTCACAGTGCCAGGCTCCCAGCACGGCGCACGGCACTCACAGTG ACAGGCTCCCAGCACGGCGCACGGCCCTCACAGTGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0094 a0001c0001t0094	a0001c0001t0094g0292 a0001c0001t0094g0292	1	244	0.0041	385	c.52 others(396): Show c.5271_*5272insTCACTGTGAGGGCCGTGCGCCGTGCTGGGAGCCT GTCACTGTGAGTGCCGTGCGCCGTGCTGGGAGCCTGGCACTGTGAGTGCC GTGCGCCGTGCTGGGAGCCTGGCACTGTGAGTGCCGTGCGCCGTGCTGGG AGCCTGTCACTGTGAGTGCCGTGCGCCCTGCTGGGAGCCTGGCACTGTGA GTGCCGTGCGCCGTGCTGGGAGCCTGTCACTGTGAGGGCCGTGCGCCGTG CTGGGAGCCTGTCACTGTGAGGGCCGTGCGCCGTGCTGGGAGCCTGTCAC TGTGAGGGCCGTGCGCCGTGCTGGGAGCCTGTCACTGTGAGGGCCGTGCG CCGTGCTGGGAGCCTGGCACTGTGAGTGCCGTGCGCCGTGCTGGGAGCCT G	CHFR	ENSG00000072609.18	transcript	ENST00000450056.7	protein_coding	18/18	5271		chr12	TogoVar
CHFR_chr12_132827356_132892605	132836282	C C	CCAGGCTC others(378): Show CCAGGCTCCCAGCACGGCGCACGGCACTCACAGTGCCAGGCTCCCAGCAC GGCGCACGGCCCTCACAGTGCCAGGCTCCCAGCACGGCGCACGGCCCTCA CAGTGACAGGCTCCCAGCACGGCGCACGGCCCTCACAGTGACAGGCTCCC AGCACGGCGCACGGCCCTCACAGTGACAGGCTCCCAGCACGGCGCACGGC CCTCACAGTGACAGGCTCCCAGCAGGGCGCACGGCACTCACAGTGACAGG CTCCCAGCACGGCGCACGGCACTCACAGTGCCAGGCTCCCAGCACGGCGC ACGGCACTCACAGTGCCAGGCTCCCAGCACGGCGCACGGCACTCACAGTG CCAGGCTCCCAGCACGGCGCACGGCCCTCACAGTGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0096 a0001c0001t0096	a0001c0001t0096g0282 a0001c0001t0096g0282	1	244	0.0041	385	c.52 others(396): Show c.5271_*5272insTCACTGTGAGGGCCGTGCGCCGTGCTGGGAGCCT GGCACTGTGAGTGCCGTGCGCCGTGCTGGGAGCCTGGCACTGTGAGTGCC GTGCGCCGTGCTGGGAGCCTGGCACTGTGAGTGCCGTGCGCCGTGCTGGG AGCCTGTCACTGTGAGTGCCGTGCGCCCTGCTGGGAGCCTGTCACTGTGA GGGCCGTGCGCCGTGCTGGGAGCCTGTCACTGTGAGGGCCGTGCGCCGTG CTGGGAGCCTGTCACTGTGAGGGCCGTGCGCCGTGCTGGGAGCCTGTCAC TGTGAGGGCCGTGCGCCGTGCTGGGAGCCTGGCACTGTGAGGGCCGTGCG CCGTGCTGGGAGCCTGGCACTGTGAGTGCCGTGCGCCGTGCTGGGAGCCT G	CHFR	ENSG00000072609.18	transcript	ENST00000450056.7	protein_coding	18/18	5271		chr12	TogoVar
CHFR_chr12_132827356_132892605	132836282	C C	CCAGGCTC others(378): Show CCAGGCTCCCAGCACGGCGCACGGCCCTCACAGTGCCAGGCTCCCAGCAC GGCGCACGGCCCTCACAGTGACAGGCTCCCAGCACGGCGCACGGCCCTCA CAGTGACAGGCTCCCAGCACGGCGCACGGCCCTCACAGTGACAGGCTCCC AGCACGGCGCACGGCCCTCACAGTGACAGGCTCCCAGCACGGCGCACGGC ACTCACAGTGACAGGCTCCCAGCAGGGCGCACGGCACTCACAGTGACAGG CTCCCAGCACGGCGCACGGCACTCACAGTGCCAGGCTCCCAGCACGGCGC ACGGCACTCACAGTGCCAGGCTCCCAGCACGGCGCACGGCACTCACAGTG CCAGGCTCCCAGCACGGCGCACGGCCCTCACAGTGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18999.hp1 NA19002.hp2 NA18999.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0251 a0001c0001t0041g0300 a0001c0001t0041g0251 a0001c0001t0041g0300	2	245	0.0082	385	c.52 others(396): Show c.5271_*5272insTCACTGTGAGGGCCGTGCGCCGTGCTGGGAGCCT GGCACTGTGAGTGCCGTGCGCCGTGCTGGGAGCCTGGCACTGTGAGTGCC GTGCGCCGTGCTGGGAGCCTGGCACTGTGAGTGCCGTGCGCCGTGCTGGG AGCCTGTCACTGTGAGTGCCGTGCGCCCTGCTGGGAGCCTGTCACTGTGA GTGCCGTGCGCCGTGCTGGGAGCCTGTCACTGTGAGGGCCGTGCGCCGTG CTGGGAGCCTGTCACTGTGAGGGCCGTGCGCCGTGCTGGGAGCCTGTCAC TGTGAGGGCCGTGCGCCGTGCTGGGAGCCTGTCACTGTGAGGGCCGTGCG CCGTGCTGGGAGCCTGGCACTGTGAGGGCCGTGCGCCGTGCTGGGAGCCT G	CHFR	ENSG00000072609.18	transcript	ENST00000450056.7	protein_coding	18/18	5271		chr12	TogoVar
CHFR_chr12_132827356_132892605	132836282	C C	CCAGGCTC others(378): Show CCAGGCTCCCAGCACGGCGCACGGCCCTCACAGTGCCAGGCTCCCAGCAC GGCGCACGGCCCTCACAGTGCCAGGCTCCCAGCACGGCGCACGGCCCTCA CAGTGACAGGCTCCCAGCACGGCGCACGGCCCTCACAGTGACAGGCTCCC AGCACGGCGCACGGCCCTCACAGTGACAGGCTCCCAGCACGGCGCACGGC ACTCACAGTGACAGGCTCCCAGCACGGCGCACGGCACTCACAGTGACAGG CTCCCAGCACGGCGCACGGCACTCACAGTGCCAGGCTCCCAGCACGGCGC ACGGCACTCACAGTGCCAGGCTCCCAGCACGGCGCACGGCACTCACAGTG CCAGGCTCCCAGCACGGCGCACGGCCCTCACAGTGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0106 a0001c0001t0106	a0001c0001t0106g0254 a0001c0001t0106g0254	1	244	0.0041	385	c.52 others(396): Show c.5271_*5272insTCACTGTGAGGGCCGTGCGCCGTGCTGGGAGCCT GGCACTGTGAGTGCCGTGCGCCGTGCTGGGAGCCTGGCACTGTGAGTGCC GTGCGCCGTGCTGGGAGCCTGGCACTGTGAGTGCCGTGCGCCGTGCTGGG AGCCTGTCACTGTGAGTGCCGTGCGCCGTGCTGGGAGCCTGTCACTGTGA GTGCCGTGCGCCGTGCTGGGAGCCTGTCACTGTGAGGGCCGTGCGCCGTG CTGGGAGCCTGTCACTGTGAGGGCCGTGCGCCGTGCTGGGAGCCTGTCAC TGTGAGGGCCGTGCGCCGTGCTGGGAGCCTGGCACTGTGAGGGCCGTGCG CCGTGCTGGGAGCCTGGCACTGTGAGGGCCGTGCGCCGTGCTGGGAGCCT G	CHFR	ENSG00000072609.18	transcript	ENST00000450056.7	protein_coding	18/18	5271		chr12	TogoVar
CHODL_chr21_18239833_18272370	18251498	A A	ATATTTAT others(378): Show ATATTTATTTTAATATATAAAATAAATATTTATTTTATATATAAAATAAA TATTTATTTTAATATTAAAATAAATATTTATTTTATATATTAAATAAATA TTTATTTTATATATTAAAATAAATATTTATTTTATATATAAAATAAATAT TTATTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATT TATTTTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATAAATATTTATTTTAATATATTAAAATAAATATTTAT TTTATTTATTTATTTTAATATATAAAATATTTTATT	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	92	0.0109	385	c.80- others(400): Show c.80-4988_80-4987insAATATTTATTTTATATATAAAATAAATATT TATTTTAATATTAAAATAAATATTTATTTTATATATTAAATAAATATTTA TTTTATATATTAAAATAAATATTTATTTTATATATAAAATAAATATTTAT TTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATTAAAATAAATATTTATTTTA TTTATTTATTTTAATATATAAAATATTTTATTTATTTATTTTAATATATA AAATA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHODL_chr21_18239833_18272370	18251530	A A	AATATTTA others(378): Show AATATTTAAAATAAATATTTATTTTATATATTAAAATAAATATTTATTTT AATATAATAAAATAAATATTTATTTTATATATAAAATAAATATTTATTTT ATATATTAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTT AATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTT AATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTT AATATATAAAATAAATATTTATTTTATATATTAAAATAAATATTTATTTT AATATATAAAATAAATATTTATTTTATTTATTTATTTTAATATATAAAAT ATTTTATTTATTTATTTTAATATATAAAATATTTAT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0056 a0001c0001t0006g0056	1	389	0.0026	385	c.80- others(400): Show c.80-4979_80-4978insATATTTAAAATAAATATTTATTTTATATAT TAAAATAAATATTTATTTTAATATAATAAAATAAATATTTATTTTATATA TAAAATAAATATTTATTTTATATATTAAAATAAATATTTATTTTAATATA TAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATA TAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATA TAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTATATAT TAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTATTTAT TTATTTTAATATATAAAATATTTTATTTATTTATTTTAATATATAAAATA TTTAT	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5			chr21	TogoVar
CHODL_chr21_18239833_18272370	18251530	A A	AATATTTA others(378): Show AATATTTAAAATAAATATTTATTTTATATATTAAAATAAATATTTATTTT AATATATAAAATAAATATTTATTTTATATATAAAATAAATATTTATTTTA ATATATTAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTT AATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTT AATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTT AATATATAAAATAAATATTTATTTTATATATTAAAATAAATATTTATTTT AATATATAAAATAAATATTTATTTTATTTATTTATTTTAATATATAAAAT ATTTTATTTATTTATTTTAATATATAAAATATTTAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00733.hp2 HG00280.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0004 a0001c0001t0006	a0001c0001t0004g0053 a0001c0001t0006g0055 a0001c0001t0004g0053 a0001c0001t0006g0055	2	390	0.0051	385	c.80- others(400): Show c.80-4979_80-4978insATATTTAAAATAAATATTTATTTTATATAT TAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTATATAT AAAATAAATATTTATTTTAATATATTAAAATAAATATTTATTTTAATATA TAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATA TAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATA TAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTATATAT TAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTATTTAT TTATTTTAATATATAAAATATTTTATTTATTTATTTTAATATATAAAATA TTTAT	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5			chr21	TogoVar
CLPTM1L_chr5_1312752_1350099	1333664	T T	TGAGGATA others(378): Show TGAGGATAAGGGGGGACTACTGTATACACACGGGATGAGGATAAGGGGGG ACTACTGTATACACACCACATGAGGATAAGGGGGGACTACTGTATACACA CCAGATGAGGATAAGGGGGGACTACTGTATACACACCGGATGAGGATAAG GGGGGACTACTGTATACACACGGGATGAGGATAAGGGGGGACTACTGTAT ACACATTGGATGAGGATAAGGGGGGACTACTGTATACACACCGGATGAGG ATAAGGGGGGAGTACTGTATACACACCAGATGAGGATAAGGGGGGACTAC TGTAGACACACCGGATGAGGACAAGCGGGAACTACTGTATACACACCGGA AGAGGATAAGGGGGGACTACTGTAGACACACCGCAA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0011 a0001c0004t0001g0011	1	55	0.0182	385	c.891 others(400): Show c.891+624_891+625insTTGCGGTGTGTCTACAGTAGTCCCCCCTTA TCCTCTTCCGGTGTGTATACAGTAGTTCCCGCTTGTCCTCATCCGGTGTG TCTACAGTAGTCCCCCCTTATCCTCATCTGGTGTGTATACAGTACTCCCC CCTTATCCTCATCCGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCCA ATGTGTATACAGTAGTCCCCCCTTATCCTCATCCCGTGTGTATACAGTAG TCCCCCCTTATCCTCATCCGGTGTGTATACAGTAGTCCCCCCTTATCCTC ATCTGGTGTGTATACAGTAGTCCCCCCTTATCCTCATGTGGTGTGTATAC AGTAGTCCCCCCTTATCCTCATCCCGTGTGTATACAGTAGTCCCCCCTTA TCCTC	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	7/16			chr5	TogoVar
CLPTM1L_chr5_1312752_1350099	1333664	T T	TGAGGATA others(378): Show TGAGGATAAGGGGGGACTACTGTATACACACGGGATGAGGATAAGGGGGG ACTACTGTATACACACCAGATGAGGATAAGGGGGGACTACTGTATACACA CCAGATGAGGATAAGGGGGGACTACTGTATACACACCGGATGAGGATAAG GGGGGACTACTGTATACACACGGGATGAGGATAAGGGGGGACTACTGTAT ACACATTGGATGAGGATAAGGGGGGACTACTGTATACACACCGGATGAGG ATAAGGGGGGAGTACTGTATACACACCAGATGAGGATAAGGGGGGACTAC TGTAGACACACCGGATGAGGACAAGCGGGAACTACTGTATACACACCGGA AGAGGATAAGGGGGGACTACTGTAGACACACCGCAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02280.hp1 HG02572.hp1 others(6): Show HG02109.hp2 HG02280.hp1 HG02572.hp1 HG02976.hp1 HG02976.hp2 HG03130.hp2 NA18522.hp1 NA19240.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0033 a0001c0001t0001g0179 a0001c0001t0001g0180 others(4): Show a0001c0001t0001g0033 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0004t0001g0011	9	63	0.1429	385	c.891 others(400): Show c.891+624_891+625insTTGCGGTGTGTCTACAGTAGTCCCCCCTTA TCCTCTTCCGGTGTGTATACAGTAGTTCCCGCTTGTCCTCATCCGGTGTG TCTACAGTAGTCCCCCCTTATCCTCATCTGGTGTGTATACAGTACTCCCC CCTTATCCTCATCCGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCCA ATGTGTATACAGTAGTCCCCCCTTATCCTCATCCCGTGTGTATACAGTAG TCCCCCCTTATCCTCATCCGGTGTGTATACAGTAGTCCCCCCTTATCCTC ATCTGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCTGGTGTGTATAC AGTAGTCCCCCCTTATCCTCATCCCGTGTGTATACAGTAGTCCCCCCTTA TCCTC	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	7/16			chr5	TogoVar
CLPTM1L_chr5_1312752_1350099	1333664	T T	TGAGGATA others(378): Show TGAGGATAAGGGGGGACTACTGTATACACACGGGATGAGGATAAGGGGGG ACTACTGTATACACATTGGATGAGGATAAGGGGGGACTACTGTATACACA CCGGATGAGGATAAGGGGGGACTACTGTATACACACCAGATGAGGATAAG GGGGGACTACTGTAGACACACCGGATGAGGACAAGCGGGAACTACTGTAT ACACACCGGAAGAGGATAAGGGGGGACTACTGTATACACACCGCAAGAGG ATAAGGGGGGACTACTGTATACACACCGGATGAGGATAAGGGGGGACTAC TGTATACACACCAGATGAGGATAAGGGGGGACTACTGTAGACACACCGGA TGAGGACAAGCGGGAACTACTGTATACACACCGGAA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0283 a0001c0001t0001g0283	1	55	0.0182	385	c.891 others(400): Show c.891+624_891+625insTTCCGGTGTGTATACAGTAGTTCCCGCTTG TCCTCATCCGGTGTGTCTACAGTAGTCCCCCCTTATCCTCATCTGGTGTG TATACAGTAGTCCCCCCTTATCCTCATCCGGTGTGTATACAGTAGTCCCC CCTTATCCTCTTGCGGTGTGTATACAGTAGTCCCCCCTTATCCTCTTCCG GTGTGTATACAGTAGTTCCCGCTTGTCCTCATCCGGTGTGTCTACAGTAG TCCCCCCTTATCCTCATCTGGTGTGTATACAGTAGTCCCCCCTTATCCTC ATCCGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCCAATGTGTATAC AGTAGTCCCCCCTTATCCTCATCCCGTGTGTATACAGTAGTCCCCCCTTA TCCTC	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	7/16			chr5	TogoVar
CNOT1_chr16_58514951_58634826	58586389	G G	GGAGGGCA others(378): Show GGAGGGCAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAGGGGGAGGG GAAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGG AAGGGCAGGGGAGGGGGAGGGGGGACTGGAGGGGAGGGGACGGGAGGGGG GGAGGGGGAGGGGAGGGGGGACTGGAGGGGAGGGGAGGGGAAGGGGAAGG GAAGGGGAGGGGAAGGGGATGGGAGGGGAAGGGGAGGAGAGGGAGAGGGG AAGGGGAGGGGAGGGGAAGGGGAAGGGAAGGGGAGGGAAGGGGAGGGAAG GAAAGGGAAGGGGAGGGAAGGGGAGGGGAGGGGAAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAAGGGGAGGGGAGGGGAGGGGA	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0051 a0001c0003t0002g0051	1	295	0.0034	385	c.637 others(400): Show c.637+155_637+156insTCCCCTCCCCTCCCCTCCCCTTCCCCTCCC CTCCCCTCCCCTCCCCTCCCCTTCCCCTCCCCTCCCCTTCCCTCCCCTTC CCTTTCCTTCCCTCCCCTTCCCTCCCCTTCCCTTCCCCTTCCCCTCCCCT CCCCTTCCCCTCTCCCTCTCCTCCCCTTCCCCTCCCATCCCCTTCCCCTC CCCTTCCCTTCCCCTTCCCCTCCCCTCCCCTCCAGTCCCCCCTCCCCTCC CCCTCCCCCCCTCCCGTCCCCTCCCCTCCAGTCCCCCCTCCCCCTCCCCT GCCCTTCCCTTCCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCCTGCCCTC CCCTTCCCCTCCCCCTCCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCCTG CCCTC	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	7/48			chr16	TogoVar
CNOT1_chr16_58514951_58634826	58586399	G G	GGAGGGGA others(378): Show GGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGG GAAGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGGCAGGGG GAGGGGAAGGGAAGGGCAGGGGGAGGGGAAGGGAAGGGCAGGGGAGGGGG AGGGGGACTGGAGGGGAGGGGACGGGAGGGGGGAGGGGGAGGGGAGGGGG ACTGGAGGGGAGGGGAGGGGAAGGGGAAGGGAAGGGGAGGGGAAGGGGAT GGGAGGGGAAGGGGAGGAGAGGGAGAGGGGAAGGGGAGGGGAGGGGAAGG GGAAGGGAAGGGGAGGGAAGGGGAGGGAAGGGGAGGGAAGGGAAGGGAAG GGGAGGGGAGGGGAGGGGAAGGGGAGGGGAGGGGAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02976.hp2 HG06807.hp2 others(1): Show HG02572.hp1 HG02976.hp2 HG06807.hp2 NA19043.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0284 a0001c0004t0001g0289 a0001c0004t0001g0290 others(1): Show a0001c0004t0001g0284 a0001c0004t0001g0289 a0001c0004t0001g0290 a0001c0004t0001g0291	4	186	0.0215	385	c.637 others(400): Show c.637+145_637+146insTTCCCCTCCCCTCCCCTTCCCCTCCCCTCC CCTCCCCTTCCCTTCCCTTCCCTCCCCTTCCCTCCCCTTCCCTCCCCTTC CCTTCCCCTTCCCCTCCCCTCCCCTTCCCCTCTCCCTCTCCTCCCCTTCC CCTCCCATCCCCTTCCCCTCCCCTTCCCTTCCCCTTCCCCTCCCCTCCCC TCCAGTCCCCCTCCCCTCCCCCTCCCCCCTCCCGTCCCCTCCCCTCCAGT CCCCCTCCCCCTCCCCTGCCCTTCCCTTCCCCTCCCCCTGCCCTTCCCTT CCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCCTGCCCTCCCCTTCCCCTC CCCTTCCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCCTGCCCTCCCCTTC CCCTC	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	7/48			chr16	TogoVar
CNOT1_chr16_58514951_58634826	58586399	G G	GGAGGGGA others(378): Show GGAGGGGAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGG CAGGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGG GAGGGCAGGGGGAGGGGAAGGGAAGGGCAGGGGAGGGGGAGGGGGACTGG AGGGGAGGGGACGGGAGGGGGGAGGGGGAGGGGAGGGGGACTGGAGGGGA GGGGAGGGGAAGGGGAAGGGAAGGGGAGGGGAAGGGGATGGGAGGGGAAG GGGAGGAGAGGGAGAGGGGAAGGGGAGGGGAGGGGGAGGGGAGGGGAAGG GGAAGGGAAGGGGAGGGAAGGGGAGGGAAGGGGAGGGAAGGGAAGGGAAG GGGAGGGGAGGGGAGGGGAAGGGGAGGGGAGGGGAA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0218 a0001c0005t0001g0218	1	183	0.0055	385	c.637 others(400): Show c.637+145_637+146insTTCCCCTCCCCTCCCCTTCCCCTCCCCTCC CCTCCCCTTCCCTTCCCTTCCCTCCCCTTCCCTCCCCTTCCCTCCCCTTC CCTTCCCCTTCCCCTCCCCTCCCCCTCCCCTCCCCTTCCCCTCTCCCTCT CCTCCCCTTCCCCTCCCATCCCCTTCCCCTCCCCTTCCCTTCCCCTTCCC CTCCCCTCCCCTCCAGTCCCCCTCCCCTCCCCCTCCCCCCTCCCGTCCCC TCCCCTCCAGTCCCCCTCCCCCTCCCCTGCCCTTCCCTTCCCCTCCCCCT GCCCTCCCCTTCCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCTTCCCCTC CCCCTGCCCTCCCCTTCCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCCTC CCCTC	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	7/48			chr16	TogoVar

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