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
CACNA2D1_chr7_81941444_82448777	82060168	A A	ATATATAT others(191): Show ATATATATAATATATATATATATTATATATATAATATATATATAATACAT ATATATATATAATATATATATATATTATATATATAATATATATATAATAC ATATATATATTATATATATATTATATATATATATATATATATAATATATA TATATTATATATAATATATATATATAATATATATATAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0033 a0001c0002t0001g0033	1	97	0.0103	198	c.879 others(213): Show c.879+259_879+260insATATATATATATTATATATATATTATATAT ATATATTATATATAATATATATATATTATATATATATATATATATATAAT ATATATATAATATATATATGTATTATATATATATTATATATATAATATAT ATATATATTATATATATATATGTATTATATATATATTATATATATAATAT ATATATATATTATATATA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	10/38			chr7	TogoVar
CACNG2_chr22_36555857_36708752	36680096	G G	GGATCACT others(191): Show GGATCACTGCCACCTGCATCATGGCTATAATTACCACCACCATCACCACC ATCACTACCACCACCATCACCGTCACCACCATTACCACCACCATCACTAC CACCACCATCACTGTCACCACCACTACCACCACCATCATCACCACCACCA TCACCATCATCAACACCACCACCATCACCACCATCACCACCACCTTCAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG00438.hp2 others(42): Show HG00280.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00639.hp2 HG00735.hp2 HG00741.hp1 HG01070.hp1 HG01106.hp2 HG01175.hp2 HG01192.hp1 HG01346.hp1 HG01496.hp1 HG01934.hp1 HG01981.hp1 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02083.hp1 HG02135.hp2 HG02523.hp1 HG02523.hp2 HG02615.hp1 HG02630.hp2 HG02698.hp2 HG03017.hp2 HG03098.hp1 HG03471.hp1 HG03704.hp1 HG03834.hp2 HG03927.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 NA18747.hp2 NA18979.hp1 NA18995.hp1 NA19002.hp1 NA19055.hp1 NA19064.hp2 NA19066.hp1 NA19081.hp2 NA19091.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0024 a0001c0001t0030 a0001c0001t0032 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0052 a0001c0001t0056 a0001c0001t0069 a0001c0001t0074 a0001c0001t0075 a0001c0001t0080 a0001c0001t0087 a0001c0001t0108	a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0037 others(42): Show a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0037 a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0078 a0001c0001t0002g0073 a0001c0001t0002g0086 a0001c0001t0002g0088 a0001c0001t0003g0142 a0001c0001t0003g0166 a0001c0001t0004g0007 a0001c0001t0004g0030 a0001c0001t0004g0031 a0001c0001t0004g0058 a0001c0001t0004g0076 a0001c0001t0004g0083 a0001c0001t0005g0120 a0001c0001t0005g0124 a0001c0001t0006g0143 a0001c0001t0007g0002 a0001c0001t0008g0140 a0001c0001t0010g0059 a0001c0001t0014g0069 a0001c0001t0016g0093 a0001c0001t0017g0024 a0001c0001t0024g0164 a0001c0001t0030g0011 a0001c0001t0032g0047 a0001c0001t0035g0044 a0001c0001t0036g0091 a0001c0001t0037g0057 a0001c0001t0038g0021 a0001c0001t0039g0066 a0001c0001t0046g0055 a0001c0001t0047g0012 a0001c0001t0048g0094 a0001c0001t0052g0099 a0001c0001t0056g0107 a0001c0001t0069g0139 a0001c0001t0074g0144 a0001c0001t0075g0169 a0001c0001t0080g0162 a0001c0001t0087g0190 a0001c0001t0108g0211	45	211	0.2133	198	c.211 others(217): Show c.211+22072_211+22269dupATGAAGGTGGTGGTGATGGTGGTGAT GGTGGTGGTGTTGATGATGGTGATGGTGGTGGTGATGATGGTGGTGGTAG TGGTGGTGACAGTGATGGTGGTGGTAGTGATGGTGGTGGTAATGGTGGTG ACGGTGATGGTGGTGGTAGTGATGGTGGTGATGGTGGTGGTAATTATAGC CATGATGCAGGTGGCAGTGATC	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding	1/3			chr22	TogoVar
CACNG2_chr22_36555857_36708752	36680134	A A	ACCATCAC others(191): Show ACCATCACCACCATCACTACCACCACCATCACCGTCACCACCATTACCAC CACCATCACTACCACCACCATCACTGTCACCACCACTACCACCACCATCA TCACCACCACCATCACCATCATCAACACCACCACCATCACCACCATCACC ACCACCTTCATGATCACTGCCACCTGCATCATGGCTATAATTACCACCG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02897.hp2 NA20129.hp2 others(1): Show HG02717.hp1 HG02897.hp2 NA20129.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0019 a0001c0001t0054 others(1): Show a0001c0001t0011 a0001c0001t0019 a0001c0001t0054 a0001c0001t0061	a0001c0001t0011g0101 a0001c0001t0019g0033 a0001c0001t0054g0100 others(1): Show a0001c0001t0011g0101 a0001c0001t0019g0033 a0001c0001t0054g0100 a0001c0001t0061g0130	4	212	0.0189	198	c.211 others(217): Show c.211+22034_211+22231dupCGGTGGTAATTATAGCCATGATGCAG GTGGCAGTGATCATGAAGGTGGTGGTGATGGTGGTGATGGTGGTGGTGTT GATGATGGTGATGGTGGTGGTGATGATGGTGGTGGTAGTGGTGGTGACAG TGATGGTGGTGGTAGTGATGGTGGTGGTAATGGTGGTGACGGTGATGGTG GTGGTAGTGATGGTGGTGATGG	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding	1/3			chr22	TogoVar
CACNG2_chr22_36555857_36708752	36680171	C C	CCACCATT others(191): Show CCACCATTACCACCACCATCACTACCACCACCATCACTGTCACCACCACT ACCACCACCATCATCACCACCACCATCACCATCATCAACACCACCACCAT CACCACCATCACCACCACCTTCATGATCACTGCCACCTGCATCATGGCTA TAATTACCACCGCCATCACCATCATCACTACCACCATCATCACCATCAT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03927.hp1 HG03669.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0085 a0001c0001t0004 a0001c0001t0085	a0001c0001t0004g0051 a0001c0001t0085g0182 a0001c0001t0004g0051 a0001c0001t0085g0182	2	212	0.0094	198	c.211 others(217): Show c.211+21997_211+22194dupATGATGGTGATGATGGTGGTAGTGAT GATGGTGATGGCGGTGGTAATTATAGCCATGATGCAGGTGGCAGTGATCA TGAAGGTGGTGGTGATGGTGGTGATGGTGGTGGTGTTGATGATGGTGATG GTGGTGGTGATGATGGTGGTGGTAGTGGTGGTGACAGTGATGGTGGTGGT AGTGATGGTGGTGGTAATGGTG	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding	1/3			chr22	TogoVar
CADM1_chr11_115164236_115509415	115328703	T T	TATATACA others(191): Show TATATACATATATACGCGTATATATATGTATATACATATATACGCGTATA TATATGTATATACATATATACGCGTATATATATGTATATACATATATATA CGCGTATATATATGTATATACATATATATATGTATATACATATATATACG CGTATATATATGTATATACATATATATACGCGTATATATATGTATATAC	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0089 a0001c0001t0004g0089	1	49	0.0204	198	c.125 others(217): Show c.125-88284_125-88283insGTATATACATATATATACGCGTATAT ATATGTATATACATATATATACGCGTATATATATGTATATACATATATAT ATGTATATACATATATATACGCGTATATATATGTATATACATATATATAC GCGTATATATGTATATACATATATATACGCGTATATATGTATATACATAT ATATACGCGTATATATGTATAT	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar
CALCOCO2_chr17_48826035_48870245	48858046	A A	ATAGAATA others(191): Show ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG04115.hp2 HG02630.hp2 HG04115.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0009 a0002c0003t0004 a0002c0003t0009	a0002c0003t0004g0324 a0002c0003t0009g0148 a0002c0003t0004g0324 a0002c0003t0009g0148	2	63	0.0317	198	c.100 others(217): Show c.1008+1859_1008+1860insTAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAG	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	10/12			chr17	TogoVar
CAMTA1_chr1_6780454_7774706	6937556	T T	TCATCACG others(191): Show TCATCACGATCACCATCACCATTCACCACTTACCACCACCATCATCACCA TCACCATCATCATCACCACTACCATCATCACCATCACCATCACCATTCAC CACTTACCACCACCATCATCACCATCACCATCACCATTCACCACTTACCA CCATCATCACCATCACCATCATCATCACCACTACCATCCTCACCATCAC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0038 a0001c0001t0005g0038	1	53	0.0189	198	c.234 others(219): Show c.234+112352_234+112353insGATCACCATCACCATTCACCACTT ACCACCACCATCATCACCATCACCATCATCATCACCACTACCATCATCAC CATCACCATCACCATTCACCACTTACCACCACCATCATCACCATCACCAT CACCATTCACCACTTACCACCATCATCACCATCACCATCATCATCACCAC TACCATCCTCACCATCACCATCAC	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(191): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAA GGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGG GGAGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGA GAGGGAGAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAG	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0328 a0002c0003t0006g0328	1	43	0.0233	198	c.234 others(215): Show c.234+6868_234+6869insCTTCTTCTTCCTCTCCTTCTCCTTCTCC TTCTTCCTCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTC CCCTTCCCCTTCCCCTTCCCCTTCCTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(191): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGGGGAAGGG GAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGA GGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAG GGAGAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0278 a0002c0004t0004g0278	1	43	0.0233	198	c.234 others(215): Show c.234+6868_234+6869insCTTCTTCTTCTTCCTCTCCTTCTCCTTC TCCTTCTTCCTCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCCTCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCC TTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(191): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGGGGAAGGGGAA GGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGG AGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAGAGGGA GAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0279 a0002c0004t0002g0279	1	43	0.0233	198	c.234 others(215): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCTTCCTCTCC TTCTCCTTCTCCTTCTTCCTCTCCCTCTCCCTCTCCCTCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCCTTC CCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761458	A A	AAGAGGAA others(191): Show AAGAGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAA GGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGGAGGGGG AGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGAAGAAGGAG AAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0101 a0001c0001t0002g0101	1	282	0.0035	198	c.234 others(215): Show c.234+6849_234+6850insCCTTCTCCTTCTCCTTCTTCTTCTTCTT CTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTCCCCCTCCC CCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTC CCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCC CTTCCCCTTCCCCTTCCTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761458	A A	AAGGGGAA others(191): Show AAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAA GGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGGAGGGGGAGGGGG AGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGAAGAAGGAG AAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA19065.hp2 NA18948.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0097 a0001c0001t0002g0098	2	283	0.0071	198	c.234 others(215): Show c.234+6849_234+6850insCCTTCTCCTTCTCCTTCTTCTTCTTCTT CTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTCCCCCTCCC CCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCTTC CCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCC CTTCCCCTTCCCCTTCCCCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761465	A A	AGGGCAAC others(191): Show AGGGCAACAGAATAAGACTCAGTCAAAAAAAAAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGG GAGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0010 a0002c0003t0010	a0002c0003t0010g0013 a0002c0003t0010g0013	1	359	0.0028	198	c.234 others(215): Show c.234+6842_234+6843insCTCTTCCTCTCCTTCTCCTTCTCCTTCT TCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCC CCCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTT CCCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTTTTTTTTTGAC TGAGTCTTATTCTGTTGCCC	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(191): Show CCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTC CCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 NA18954.hp1 HG00423.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0001 a0001c0001t0001g0003	2	19	0.1053	198	c.-22 others(209): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG AAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(191): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTC CCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 NA20129.hp2 HG01884.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	19	0.1053	198	c.-22 others(209): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGG AAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(191): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTC CCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	18	0.0556	198	c.-22 others(209): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGG AAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(191): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCTCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTC CCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0147 a0001c0001t0003g0147	1	18	0.0556	198	c.-22 others(209): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGAGGGAAGGGAAGGGAAGGGAAGGG AAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(191): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTC CCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0091 a0001c0001t0002g0091	1	18	0.0556	198	c.-22 others(209): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGG AAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC88C_chr14_91266323_91422820	91293493	T T	TCCTCACC others(191): Show TCCTCACCCACCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACC TTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAG CTCACCTTCCCATTCTCACCTGCCACAGCTCACCTTCCTATCCTCACCCG CCACAGCTCACCTTCCCATCCTCACCTGCCACAGCCCACCTTCCTGTCC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0034 a0001c0034	a0001c0034t0001 a0001c0034t0001	a0001c0034t0001g0264 a0001c0034t0001g0264	1	205	0.0049	198	c.411 others(215): Show c.4112+679_4112+680insGGACAGGAAGGTGGGCTGTGGCAGGTGA GGATGGGAAGGTGAGCTGTGGCGGGTGAGGATAGGAAGGTGAGCTGTGGC AGGTGAGAATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGC TGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAG GTGAGCTGTGGTGGGTGAGG	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CCDC88C_chr14_91266323_91422820	91293567	G G	GGCCCACC others(191): Show GGCCCACCTTCCTGCCCCCTCACCTGCCACAGCTCACCTTCCCATCCTCA CCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCA TCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCTGCCACAGCCCACC TTCCCATCCTCACGTGCCACAGCTCACCTTCCCATCCTCACCTGCCACA	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0063 a0002c0002t0001g0063	1	106	0.0094	198	c.411 others(215): Show c.4112+605_4112+606insTGTGGCAGGTGAGGATGGGAAGGTGAGC TGTGGCACGTGAGGATGGGAAGGTGGGCTGTGGCAGGTGAGGATGGGAAG GTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGAT GGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCAGGT GAGGGGGCAGGAAGGTGGGC	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CCDC88C_chr14_91266323_91422820	91293567	G G	GGCCCACC others(191): Show GGCCCACCTTCCTGCCCCCTCACCTGCCACAGCTCACCTTCCCATCCTCA CCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCA TCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCTGCCACAGCTCACC TTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0088 a0002c0002t0001g0088	1	106	0.0094	198	c.411 others(215): Show c.4112+605_4112+606insTGTGGCGGGTGAGGATGGGAAGGTGAGC TGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCAGGTGAGGATGGGAAG GTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGAT GGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCAGGT GAGGGGGCAGGAAGGTGGGC	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CCDC88C_chr14_91266323_91422820	91293567	G G	GGCCCACC others(191): Show GGCCCACCTTCCTGCCCCCTCACCTGCCACAGCTCACCTTCCCATCCTCA CCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCA TCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCTGCCACAGCTCACC TTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCTGCCACA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01256.hp1 HG01258.hp2 others(2): Show HG01074.hp2 HG01256.hp1 HG01258.hp2 HG01943.hp1 HG01993.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 others(2): Show a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0105 a0002c0002t0001g0137	5	110	0.0455	198	c.411 others(215): Show c.4112+605_4112+606insTGTGGCAGGTGAGGATGGGAAGGTGAGC TGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCAGGTGAGGATGGGAAG GTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGAT GGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCAGGT GAGGGGGCAGGAAGGTGGGC	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CCN4_chr8_133186039_133236690	133213962	C C	CTATATAT others(191): Show CTATATATACACTATATATAGTTATATATACTATATATAACTATATATAG TATATATACTATATATAACTATATATAGTGTATATATACTATATATAACT ATATATAGTATATATACTATATATACACTATATATAGTATATATACTATA TATACACTATATATAGTAGTTATATATACTATATATACACTATATATAG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0371 a0001c0001t0001g0371	1	294	0.0034	198	c.349 others(213): Show c.349+840_349+841insTATATATACTATATATAACTATATATAGTA TATATACTATATATAACTATATATAGTGTATATATACTATATATAACTAT ATATAGTATATATACTATATATACACTATATATAGTATATATACTATATA TACACTATATATAGTAGTTATATATACTATATATACACTATATATAGTAT ATATACACTATATATAGT	CCN4	ENSG00000104415.14	transcript	ENST00000250160.11	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
CCN4_chr8_133186039_133236690	133213962	C C	CTATATAT others(191): Show CTATATATACACTATATATAGTTATATATACTATATATACACTATATATA GTATATATACTATATATAACTATATATAGTGTATATATACTATATATACT ATATATAGTATATATACTATATATACACTATATATAGTATATATACTATA TATACACTATATATAGTAGTTATATATACTATATATACACTATATATAG	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	294	0.0034	198	c.349 others(213): Show c.349+840_349+841insTATATATACTATATATACACTATATATAGT ATATATACTATATATAACTATATATAGTGTATATATACTATATATACTAT ATATAGTATATATACTATATATACACTATATATAGTATATATACTATATA TACACTATATATAGTAGTTATATATACTATATATACACTATATATAGTAT ATATACACTATATATAGT	CCN4	ENSG00000104415.14	transcript	ENST00000250160.11	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
CD3G_chr11_118339344_118360161	118355852	C C	CACATATG others(191): Show CACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCA TACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTA TACGCATACACACATATGTGTGTGTATACGCATACACACACATATGTGTG TGTATACGCATACACACACATATGTGTGTGTATACGCATACACACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 NA19240.hp2 HG02717.hp2 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0061 a0002c0002t0002g0002 a0002c0002t0002g0061	2	302	0.0066	198	c.27 others(209): Show c.2752_*2753insACATATGTGTGTGTATACGCATACACACACATAT GTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACAC ACATATGTGTGTGTATACGCATACACACATATGTGTGTGTATACGCATAC ACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATAC GCATACACACACAT	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		692		chr11	TogoVar
CD3G_chr11_118339344_118360161	118355868	T T	TATACACA others(191): Show TATACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTG TATACGCATACACACACATATGTGTGTGTATACGCATACACACACATATA TGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACA CATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	29	0.0345	198	c.27 others(209): Show c.2768_*2769insATACACACACATATGTGTGTGTATACGCATACAC ACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGC ATACACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGT GTATACGCATACACACATATATGTGTGTGTATACGCATACACACATATAT GTGTGTGTATACGC	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		708		chr11	TogoVar
CDH8_chr16_61642250_62041438	61960269	G G	GTGTGTGT others(191): Show GTGTGTGTGTGTATGCACATACACATATACATATATGTGTGTGTATACAC ATACATATATACATATGTGTGTATACACACATATATACATATGTGTGTAT ACACATACATATATACATATGTGTGTGTATACACACATATATACATATGT GTGTATACACATACATATATACATATGTGTGTATACACACATATATACA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0105 a0001c0001t0036g0105	1	92	0.0109	198	c.253 others(217): Show c.253-58797_253-58796insTGTATATATGTGTGTATACACACATA TGTATATATGTATGTGTATACACACATATGTATATATGTGTGTATACACA CACATATGTATATATGTATGTGTATACACACATATGTATATATGTGTGTA TACACACATATGTATATATGTATGTGTATACACACACATATATGTATATG TGTATGTGCATACACACACACA	CDH8	ENSG00000150394.14	transcript	ENST00000577390.6	protein_coding	2/11			chr16	TogoVar
CENPJ_chr13_24877279_24927861	24881980	C C	CTAGATAT others(191): Show CTAGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGAT ATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAG ATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACAT CTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0051	1	164	0.0061	198	c.11 others(209): Show c.1196_*1197insTCTAGATGTATCTATATATCTATCTAGATGTATC TATATATCTATCTAGATGTATCTATATATCTATCTAGATGTATCTATATA TCTATCTAGATGTATCTATATATCTATCTAGATGTATCTATATATCTATC TAGATGTATCTATATATCTATCTAGATGTATCTATATATCTATCTAGATG TATCTATATATCTA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		298		chr13	TogoVar
CEP19_chr3_196701277_196717250	196703385	T T	TCAGCCCC others(191): Show TCAGCCCCAGGCAGCCATAATCAATTCCCATCCCCAGCCCCAGGCAGCCA TAATCAATTCCCATCCCCAGCCCCAGGCAGCCATAATCAATTCCCATCCG CAGCCCCAGGCAGCCATAATCAATTCCCATCCCCAGCCCCAGGCAGCCAT AATCAATTCCCATCCGCAGCCCCAGGCAGCCATAATCAATTCCCATCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	430	0.0023	198	c.39 others(209): Show c.3968_*4165dupGGGATGGGAATTGATTATGGCTGCCTGGGGCTGC GGATGGGAATTGATTATGGCTGCCTGGGGCTGGGGATGGGAATTGATTAT GGCTGCCTGGGGCTGCGGATGGGAATTGATTATGGCTGCCTGGGGCTGGG GATGGGAATTGATTATGGCTGCCTGGGGCTGGGGATGGGAATTGATTATG GCTGCCTGGGGCTG	CEP19	ENSG00000174007.9	transcript	ENST00000409690.5	protein_coding		2891		chr3	TogoVar
CEP19_chr3_196701277_196717250	196703550	G G	GCAGCCCC others(191): Show GCAGCCCCAGGCAGCCATAATCAATTCCCATCCCCCGCCCCAGGCAGCCA TAATCAATTCCCATCCCCAGCCCCAGGCAGCCATAATCAATTCCCATCCG CAGCCCCAGGCAGCCATAATCAATTCCCATCCCCCGCCCCAGGCAGCCAT AATCAATTCCCATCCCCAGCCCCAGGCAGCCATAATCAATTCTCATCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	311	0.0032	198	c.40 others(209): Show c.4000_*4001insGGGATGAGAATTGATTATGGCTGCCTGGGGCTGG GGATGGGAATTGATTATGGCTGCCTGGGGCGGGGGATGGGAATTGATTAT GGCTGCCTGGGGCTGCGGATGGGAATTGATTATGGCTGCCTGGGGCTGGG GATGGGAATTGATTATGGCTGCCTGGGGCGGGGGATGGGAATTGATTATG GCTGCCTGGGGCTG	CEP19	ENSG00000174007.9	transcript	ENST00000409690.5	protein_coding		2726		chr3	TogoVar
CFAP46_chr10_132803392_132947570	132914028	C C	CCCCGAGG others(191): Show CCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCA GCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGG CCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAG CCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02630.hp2 HG00140.hp1 HG02630.hp2	a0001 a0025 a0001 a0025	a0001c0001 a0025c0041 a0001c0001 a0025c0041	a0001c0001t0002 a0025c0041t0001 a0001c0001t0002 a0025c0041t0001	a0001c0001t0002g0092 a0025c0041t0001g0143 a0001c0001t0002g0092 a0025c0041t0001g0143	2	172	0.0116	198	c.212 others(215): Show c.2121-771_2121-770insCCGGGGTGCAGTGTGGCTGGACACAGCC TCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGT GTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCT CGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTG TGGCTGGACACAGCCTCGGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	17/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132914028	C C	CCCTGAGG others(191): Show CCCTGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCA GCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGG CCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAG CCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGG	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG03669.hp2 HG02004.hp2 HG03669.hp2	a0002 a0009 a0002 a0009	a0002c0003 a0009c0021 a0002c0003 a0009c0021	a0002c0003t0001 a0009c0021t0001 a0002c0003t0001 a0009c0021t0001	a0002c0003t0001g0177 a0009c0021t0001g0243 a0002c0003t0001g0177 a0009c0021t0001g0243	2	172	0.0116	198	c.212 others(215): Show c.2121-771_2121-770insCCGGGGTGCAGTGTGGCTGGACACAGCC TCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGT GTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCT CGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTG TGGCTGGACACAGCCTCAGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	17/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132914127	C C	CCCCGAGG others(191): Show CCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCA GCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGG CCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAG CCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGG	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA18952.hp1 HG00621.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0085 a0001c0001 a0001c0085	a0001c0001t0002 a0001c0085t0002 a0001c0001t0002 a0001c0085t0002	a0001c0001t0002g0043 a0001c0085t0002g0096 a0001c0001t0002g0043 a0001c0085t0002g0096	2	122	0.0164	198	c.212 others(216): Show c.2121-1067_2121-870dupCCGGGGTGCAGTGTGGCTGGACACAGC CTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAG TGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCC TCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGT GTGGCTGGACACAGCCTCGGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	17/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132914457	C C	CCCCGAGG others(191): Show CCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCA GCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGG CCCGAGGCTGTGTCCAGCCACACTGCACCCCGCCCCGAGGCTGTGTCCAG CCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGG	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0205 a0005c0006t0001g0205	1	138	0.0072	198	c.212 others(217): Show c.2121-1397_2121-1200dupCCGGGGTGCAGTGTGGCTGGACACAG CCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGGCGGGGTGCA GTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGC CTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAG TGTGGCTGGACACAGCCTCGGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	17/57			chr10	TogoVar
CFAP61_chr20_20047532_20365698	20357850	C C	CACTGAGG others(191): Show CACTGAGGGGAGGTGGTCACAGTGTGCGGGGAGGTGGTCATACTGAGGGG AGGTGGTCACACTGTGAGGGGAGGTGGTCACACTGAGGAGAGGTGGTCAC ACTGTGAGGGGAGGTGGTCACACTGAGGAGAGGTGGTCATAGTGTGAGGG GAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCAT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0215 a0002c0004t0001g0215	1	229	0.0044	198	c.351 others(217): Show c.3514-2359_3514-2358insCTGAGGGGAGGTGGTCACAGTGTGCG GGGAGGTGGTCATACTGAGGGGAGGTGGTCACACTGTGAGGGGAGGTGGT CACACTGAGGAGAGGTGGTCACACTGTGAGGGGAGGTGGTCACACTGAGG AGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTC ACACTGAGGGGAGGTGGTCATA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP74_chr1_1916957_2008786	1928152	T T	TTGGGAGG others(191): Show TTGGGAGGAAGCCAGGCCGGGAAGGGCAAACCCTTGGGAGGAAGCCAGGC CGGGAAGGGCAAACCCTTGGGAGGAAGCCAGGCCGGGAAGGGCAAACCCG TGGGAGGAAGCCAGGCCGGGAAGGGCAAACCCTTGGGAGGAAGCCAGGCC GGGAAGGGCAAACCCTTGGGAGGAAGCCAGGCCGGGAAGGGCAAACCCG	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0001 a0001c0025t0001	a0001c0025t0001g0276 a0001c0025t0001g0276	1	275	0.0036	198	c.338 others(215): Show c.3388-407_3388-406insCGGGTTTGCCCTTCCCGGCCTGGCTTCC TCCCAAGGGTTTGCCCTTCCCGGCCTGGCTTCCTCCCAAGGGTTTGCCCT TCCCGGCCTGGCTTCCTCCCACGGGTTTGCCCTTCCCGGCCTGGCTTCCT CCCAAGGGTTTGCCCTTCCCGGCCTGGCTTCCTCCCAAGGGTTTGCCCTT CCCGGCCTGGCTTCCTCCCA	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	27/38			chr1	TogoVar
CHAT_chr10_49609037_49672942	49621964	G G	GAGGGAGG others(191): Show GAGGGAGGGAGAAGGGAGGGAAGAGGAAGGAGATGGAAGGAAGAGGGAAG GAGGGAGGGGAGGCAGAAGGGAGGGAGAAGGGAGGGAAGAGGAAGGAGAT GGAAGGAAGAGGGAAGGAGGGAGGGGAGGCAGAAGGGAGGGAGAAGGGAG GGAAGAGGAAGGAGATGGAAGGAAGAGGGAAGGAGGGAGGGGAGGCAGA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0176 a0001c0001t0002g0176	1	23	0.0435	198	c.699 others(211): Show c.699-57_699-56insAAGGGAGGGAAGAGGAAGGAGATGGAAGGAAG AGGGAAGGAGGGAGGGGAGGCAGAAGGGAGGGAGAAGGGAGGGAAGAGGA AGGAGATGGAAGGAAGAGGGAAGGAGGGAGGGGAGGCAGAAGGGAGGGAG AAGGGAGGGAAGAGGAAGGAGATGGAAGGAAGAGGGAAGGAGGGAGGGGA GGCAGAAGGGAGGGAG	CHAT	ENSG00000070748.19	transcript	ENST00000337653.7	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
CLEC4C_chr12_7724383_7752375	7733648	A A	ATTTTTTG others(191): Show ATTTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTGGCCCAGGTGGGAGTGCAGTGGCGCAATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0107 a0001c0001t0002g0107	1	445	0.0022	198	c.382 others(215): Show c.382-2737_382-2736insATTAGCCGGGCGTGGTGGCGGGCGCCTG TAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGG AGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCCACCTGGG CCACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAATACAAAAAA	CLEC4C	ENSG00000198178.11	transcript	ENST00000360345.8	protein_coding	4/5			chr12	TogoVar
CLIC5_chr6_45893456_46020860	45904647	C C	CCTCCCTC others(191): Show CCTCCCTCCCTCCCTCTCTCCTTCCCTCCCTCCCTCTCTCCTTCCCTCCC TCCCTCTCTCCTTCCCTCCCTCCCTCTCTCCTTCCCTCCCTCCCTCTCTC TCTCCTTCCCTCCCTCCCTCTCTCCTTCCCTCCCTCCCTCTCTCCTTCCC TCCCTCCCTCTCTCCTTCCCTCCCTCCCTCCTTCTCTCCTTCCCTCCTT	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	142	0.0070	198	c.589 others(215): Show c.589-1393_589-1392insAAGGAGGGAAGGAGAGAAGGAGGGAGGG AGGGAAGGAGAGAGGGAGGGAGGGAAGGAGAGAGGGAGGGAGGGAAGGAG AGAGGGAGGGAGGGAAGGAGAGAGAGAGGGAGGGAGGGAAGGAGAGAGGG AGGGAGGGAAGGAGAGAGGGAGGGAGGGAAGGAGAGAGGGAGGGAGGGAA GGAGAGAGGGAGGGAGGGAG	CLIC5	ENSG00000112782.19	transcript	ENST00000339561.12	protein_coding	5/5			chr6	TogoVar
CNTN6_chr3_1088024_1409217	1311324	A A	ATACATAT others(191): Show ATACATATATGTACATATAAAATGTCTTTATATATACATATATGTACATA TAAAATGTCTTTATATGTACATATATGTACATATAAAATGTCTTTATATG TACATATATGTACATATAAAATGTCTTTATATGTACATATATGTACATAT AAAATGTCTTTATATGTACATATATGTACATATAAAATGTCTTTATATG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03516.hp2 HG02723.hp2 HG03516.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0001 a0001c0005t0001 a0001c0003t0001 a0001c0005t0001	a0001c0003t0001g0219 a0001c0005t0001g0203 a0001c0003t0001g0219 a0001c0005t0001g0203	2	133	0.0150	198	c.762 others(217): Show c.762-10294_762-10293insATACATATATGTACATATAAAATGTC TTTATATGTACATATATGTACATATAAAATGTCTTTATATGTACATATAT GTACATATAAAATGTCTTTATATGTACATATATGTACATATAAAATGTCT TTATATGTACATATATGTACATATAAAATGTCTTTATATGTACATATATG TACATATAAAATGTCTTTATAT	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN6_chr3_1088024_1409217	1311535	C C	CATATAAA others(191): Show CATATAAAATGCCTTTATATGTACATATATGTACATATAAAATGTCTTTA TATGTACATATATGTACATATAAAATGTCTTTATATGTACATATATGTAC ATATAAAATGTCTTTATATGTACATATATGTACATATAAAATGTCTTTAT ATGTACATATATGTACATATAAAATGTCTTTATATGTACATATATGTGT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03579.hp1 HG02055.hp2 HG03579.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0012 a0001c0007t0001g0222 a0001c0007t0001g0012 a0001c0007t0001g0222	2	148	0.0135	198	c.762 others(217): Show c.762-10108_762-10107insATGCCTTTATATGTACATATATGTAC ATATAAAATGTCTTTATATGTACATATATGTACATATAAAATGTCTTTAT ATGTACATATATGTACATATAAAATGTCTTTATATGTACATATATGTACA TATAAAATGTCTTTATATGTACATATATGTACATATAAAATGTCTTTATA TGTACATATATGTGTATATAAA	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN6_chr3_1088024_1409217	1311535	C C	CATATAAA others(191): Show CATATAAAATGTCTTTATATGTACATATATGTACATATAAAATGTCTTTA TATGTACATATATGTACATATAAAATGTCTTTATATGTACATATATGTAC ATATAAAATGTCTTTATATGTACATATATGTACATATAAAATGTCTTTAT ATGTACATATATGTACATATAAAATGTCTTTATATGTACATATATGTGT	intron_variant intron_variant	MODIFIER	HG02896.hp1 NA19043.hp2 HG02896.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0010 a0002c0011 a0001c0010 a0002c0011	a0001c0010t0001 a0002c0011t0001 a0001c0010t0001 a0002c0011t0001	a0001c0010t0001g0207 a0002c0011t0001g0217 a0001c0010t0001g0207 a0002c0011t0001g0217	2	148	0.0135	198	c.762 others(217): Show c.762-10108_762-10107insATGTCTTTATATGTACATATATGTAC ATATAAAATGTCTTTATATGTACATATATGTACATATAAAATGTCTTTAT ATGTACATATATGTACATATAAAATGTCTTTATATGTACATATATGTACA TATAAAATGTCTTTATATGTACATATATGTACATATAAAATGTCTTTATA TGTACATATATGTGTATATAAA	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN6_chr3_1088024_1409217	1311535	C C	CATATAAA others(191): Show CATATAAAATGTCTTTATATGTACATATATGTACATATAAAGACATTTTA TATGTACATATATGTACATATAAAATGTCTTTATATGTACATATATGTAC ATATAAAATGTCTTTATATGTACATATATGTACATATAAAATGTCTTTAT ATGTACATATATGTACATATAAAATGTCTTTATATGTACATATATGTGT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02572.hp2 HG02280.hp2 HG02572.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0154 a0001c0006t0001g0195 a0001c0006t0001g0154 a0001c0006t0001g0195	2	148	0.0135	198	c.762 others(217): Show c.762-10108_762-10107insATGTCTTTATATGTACATATATGTAC ATATAAAGACATTTTATATGTACATATATGTACATATAAAATGTCTTTAT ATGTACATATATGTACATATAAAATGTCTTTATATGTACATATATGTACA TATAAAATGTCTTTATATGTACATATATGTACATATAAAATGTCTTTATA TGTACATATATGTGTATATAAA	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL17A1_chr10_104026286_104090880	104057439	T T	TAAAAGAT others(191): Show TAAAAGATTGCCTCCTTCGGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCC AGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGA GCTTGCAGTGAACCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGG CGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0007 a0007	a0007c0036 a0007c0036	a0007c0036t0002 a0007c0036t0002	a0007c0036t0002g0280 a0007c0036t0002g0280	1	90	0.0111	198	c.126 others(215): Show c.1268-268_1268-267insTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCG CAATCTCGGTTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCG GCCGAAGGAGGCAATCTTTT	COL17A1	ENSG00000065618.21	transcript	ENST00000648076.2	protein_coding	16/55			chr10	TogoVar
COL18A1_chr21_45400165_45518720	45474706	A A	ATGGACCC others(191): Show ATGGACCCACAGCCTTGCTCCTGGGGGCGTGGGCAGGAGACGCCGTGGAC GTGGACCCACAGCCTCGCTCCTGGGCGTGGGCAGGAGACGCCGTGGACGT GGACCCACAGCCTCGCTCCTGGGGGCGTGGGCAGGAGACGCCGTGGACGT GGACCCACAGCCTCGCTCCTGGGGGCGTGGGCAGGAGACGCCGTGGACG	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03195.hp1 HG02970.hp2 HG03195.hp1	a0001 a0001	a0001c0035 a0001c0035	a0001c0035t0001 a0001c0035t0001	a0001c0035t0001g0033 a0001c0035t0001g0145 a0001c0035t0001g0033 a0001c0035t0001g0145	2	148	0.0135	198	c.738 others(213): Show c.738+739_738+740insTGCTCCTGGGGGCGTGGGCAGGAGACGCCG TGGACGTGGACCCACAGCCTCGCTCCTGGGCGTGGGCAGGAGACGCCGTG GACGTGGACCCACAGCCTCGCTCCTGGGGGCGTGGGCAGGAGACGCCGTG GACGTGGACCCACAGCCTCGCTCCTGGGGGCGTGGGCAGGAGACGCCGTG GACGTGGACCCACAGCCT	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	4/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL4A1_chr13_110143963_110312157	110252788	A A	AGTATGTA others(191): Show AGTATGTATTACATATACAGATAACTATAAGTACGTATGTATTACACATA CAGATAACTATAAGTACGTATGTATTACATATACAGATAACTATAAGTAC GTATGTATTACATATACAGATAACTATAAGTACGTATGTATTACATATAC AGATAACTATAAGTACGTATGTATTACATATACAGATAACTATAAGTAC	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0077 a0004c0005t0001g0077	1	182	0.0055	198	c.85- others(215): Show c.85-10055_85-10054insGTACTTATAGTTATCTGTATATGTAATA CATACGTACTTATAGTTATCTGTATATGTAATACATACGTACTTATAGTT ATCTGTATATGTAATACATACGTACTTATAGTTATCTGTATATGTAATAC ATACGTACTTATAGTTATCTGTATGTGTAATACATACGTACTTATAGTTA TCTGTATATGTAATACATAC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110252788	A A	AGTATGTA others(191): Show AGTATGTATTACATATACAGATAACTATAAGTACGTATGTATTACATATA CAGATAACTATAAGTACGTATGTATTACATATACAGATAACTATAAGTAC GTATGTATTACATATACAGATAACTATAAGTACGTATGTATTACATATAC AGATAACTATAAGTACGTATGTATTACATATACAGATAACTATAAGTAC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01346.hp2 HG03139.hp2 others(2): Show HG01106.hp1 HG01346.hp2 HG03139.hp2 NA19000.hp1 NA19012.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0033 a0002c0004 others(1): Show a0001c0001 a0001c0033 a0002c0004 a0006c0042	a0001c0001t0001 a0001c0033t0001 a0002c0004t0001 others(1): Show a0001c0001t0001 a0001c0033t0001 a0002c0004t0001 a0006c0042t0002	a0001c0001t0001g0126 a0001c0033t0001g0098 a0002c0004t0001g0180 others(2): Show a0001c0001t0001g0126 a0001c0033t0001g0098 a0002c0004t0001g0180 a0002c0004t0001g0212 a0006c0042t0002g0278	5	186	0.0269	198	c.85- others(215): Show c.85-10252_85-10055dupGTACTTATAGTTATCTGTATATGTAATA CATACGTACTTATAGTTATCTGTATATGTAATACATACGTACTTATAGTT ATCTGTATATGTAATACATACGTACTTATAGTTATCTGTATATGTAATAC ATACGTACTTATAGTTATCTGTATATGTAATACATACGTACTTATAGTTA TCTGTATATGTAATACATAC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110252914	T T	TAAGTACG others(191): Show TAAGTACGTATGTATTACATATACAGATAACTATAAGTACGTATGTATTA CATATACAGATAACTATAAGTACGTATGTATTACATATACAGATAACTAT AAGTACGTATGTATTACATATACAGATAACTATAAGTACGTATGTATTAC ATATACAGATAACTACAAGTACGTATGTATTACATATACAGATAACTAC	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0087 a0001c0006t0001g0087	1	342	0.0029	198	c.85- others(215): Show c.85-10181_85-10180insGTAGTTATCTGTATATGTAATACATACG TACTTGTAGTTATCTGTATATGTAATACATACGTACTTATAGTTATCTGT ATATGTAATACATACGTACTTATAGTTATCTGTATATGTAATACATACGT ACTTATAGTTATCTGTATATGTAATACATACGTACTTATAGTTATCTGTA TATGTAATACATACGTACTT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110253096	C C	CATATACA others(191): Show CATATACAGATAACTATAAGTACGTATGTATTACATATACAGATAACTAT AAGTACGTATGTATTACATATACAGATAACTATAAGTACGTATGTATTAC ATATACATATAACTATAAGTACGTATGTATTACATATACAGATAACTATA AGTACGTATGTATTACATATACATATAACTATATGTACGTATGTATTAT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01070.hp2 HG01071.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0004 a0001c0013t0001g0004	2	206	0.0097	198	c.85- others(215): Show c.85-10363_85-10362insATAATACATACGTACATATAGTTATATG TATATGTAATACATACGTACTTATAGTTATCTGTATATGTAATACATACG TACTTATAGTTATATGTATATGTAATACATACGTACTTATAGTTATCTGT ATATGTAATACATACGTACTTATAGTTATCTGTATATGTAATACATACGT ACTTATAGTTATCTGTATAT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A2_chr13_110302284_110518209	110355449	T T	TGTGGGGG others(191): Show TGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCA CTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGT GTGGGGGAGGGCTGCAGTAGCTCACCTGTGTGTGGGGGTGGAGGGCTGTA CAGCTCACCTGTGTGAGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGA	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0135 a0001c0001t0003g0135	1	364	0.0027	198	c.100 others(215): Show c.100-1910_100-1909insCAGTAGCTCACCTGTGTGTGGGGGTGGA GGGCTGTACAGCTCACCTGTGTGAGTGGGGGAGGGCTGCACTAGCTCACC TGTGTGAGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGG GCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCT GTGTGTGTGGGGGAGGGCTG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr13	TogoVar

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