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
CERCAM_chr9_128415857_128442347	128437888	CACATACA others(43): Show CACATACACGTATATACACGTATATACACATACACGTATATACACGTATA T	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG01952.hp1 HG02293.hp2 others(1): Show HG00642.hp2 HG01952.hp1 HG02293.hp2 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0001 a0001c0001t0001g0008	4	380	0.0105	-50	c.10 others(61): Show c.1041_*1090delACATACACGTATATACACGTATATACACATACAC GTATATACACGTATAT	CERCAM	ENSG00000167123.20	transcript	ENST00000372838.9	protein_coding		542		chr9	TogoVar
CERCAM_chr9_128415857_128442347	128437892	TACACGTA others(43): Show TACACGTATATACACGTATATACACATACACGTATATACACGTATATACA C	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00733.hp2 HG01099.hp1 others(19): Show HG00408.hp2 HG00733.hp2 HG01099.hp1 HG01123.hp1 HG01496.hp2 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02602.hp2 HG03239.hp2 HG03688.hp2 NA18960.hp2 NA18973.hp2 NA18984.hp2 NA18990.hp2 NA19002.hp1 NA19004.hp1 NA19005.hp1 NA19066.hp1 NA19068.hp2 NA19091.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(8): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0104 a0001c0001t0001g0141 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0154	22	393	0.0560	-50	c.10 others(61): Show c.1045_*1094delACACGTATATACACGTATATACACATACACGTAT ATACACGTATATACAC	CERCAM	ENSG00000167123.20	transcript	ENST00000372838.9	protein_coding		546		chr9	TogoVar
CERS3_chr15_100395395_100533950	100467846	TATATATA others(43): Show TATATATAGATAGATAGATAGATAGATAGATAGATATAGATATAGATATA G	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02723.hp2 HG02886.hp2 HG01243.hp1 HG02723.hp2 HG02886.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0003 a0002c0002 a0008c0013 a0001c0003 a0002c0002 a0008c0013	a0001c0003t0039 a0002c0002t0004 a0008c0013t0029 a0001c0003t0039 a0002c0002t0004 a0008c0013t0029	a0001c0003t0039g0321 a0002c0002t0004g0055 a0008c0013t0029g0134 a0001c0003t0039g0321 a0002c0002t0004g0055 a0008c0013t0029g0134	3	338	0.0089	-50	c.845 others(67): Show c.845+1482_845+1531delCTATATCTATATCTATATCTATCTATCT ATCTATCTATCTATCTATATAT	CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	10/11			chr15	TogoVar
CFAP141_chr1_154194085_154211333	154203172	AATATATA others(43): Show AATATATATATATATATATATATATATATATATATATATATATATATATA T	A A	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02040.hp2 HG02074.hp2 others(6): Show HG01069.hp1 HG02040.hp2 HG02074.hp2 HG02155.hp2 HG02523.hp1 NA18973.hp1 NA18995.hp1 NA19010.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	9	37	0.2432	-50	c.74+ others(65): Show c.74+2376_74+2425delATATATATATATATATATATATATATATAT ATATATATATATATATATAT	CFAP141	ENSG00000163263.7	transcript	ENST00000368525.4	protein_coding	2/3			chr1	TogoVar
CFAP251_chr12_121913592_122008919	121993972	TGGGGGGG others(43): Show TGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT G	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp1 others(25): Show HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00639.hp1 HG00642.hp1 HG00741.hp2 HG01081.hp1 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01175.hp1 HG01256.hp2 HG01346.hp1 HG01358.hp1 HG01515.hp2 HG01517.hp2 HG01943.hp1 HG01975.hp2 HG02148.hp1 HG02451.hp1 HG02602.hp1 HG02683.hp2 HG03098.hp2 HG03490.hp2 HG03492.hp2 HG03704.hp1 HG04204.hp2 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0001c0016 a0003c0002 a0001c0003 a0001c0016 a0003c0002	a0001c0003t0001 a0001c0016t0001 a0003c0002t0001 a0001c0003t0001 a0001c0016t0001 a0003c0002t0001	a0001c0003t0001g0057 a0001c0003t0001g0087 a0001c0003t0001g0088 others(25): Show a0001c0003t0001g0057 a0001c0003t0001g0087 a0001c0003t0001g0088 a0001c0003t0001g0089 a0001c0003t0001g0090 a0001c0003t0001g0091 a0001c0003t0001g0093 a0001c0003t0001g0094 a0001c0003t0001g0095 a0001c0003t0001g0096 a0001c0003t0001g0097 a0001c0003t0001g0098 a0001c0003t0001g0099 a0001c0003t0001g0100 a0001c0003t0001g0101 a0001c0003t0001g0102 a0001c0003t0001g0103 a0001c0003t0001g0305 a0001c0003t0001g0306 a0001c0003t0001g0307 a0001c0003t0001g0308 a0001c0003t0001g0310 a0001c0003t0001g0311 a0001c0003t0001g0337 a0001c0003t0001g0338 a0001c0003t0001g0345 a0001c0016t0001g0092 a0003c0002t0001g0034	28	348	0.0805	-50	c.300 others(69): Show c.3007-5736_3007-5687delTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGG	CFAP251	ENSG00000158023.10	transcript	ENST00000288912.9	protein_coding	19/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP251_chr12_121913592_122008919	121994252	CCGGCCAG others(43): Show CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCGC T	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG04199.hp2 HG00423.hp1 HG04199.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0293 a0001c0005t0001g0298 a0001c0005t0001g0293 a0001c0005t0001g0298	2	352	0.0057	-50	c.300 others(69): Show c.3007-5427_3007-5378delTCAGCCCCCCCGCTCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGG	CFAP251	ENSG00000158023.10	transcript	ENST00000288912.9	protein_coding	19/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP65_chr2_218997846_219046516	219009675	GTGGGGTG others(43): Show GTGGGGTGGGGTGGGGTGGGATGGGATGGAGTGGGGTGGGATGGAGTAGA A	G G	intron_variant intron_variant	MODIFIER	HG02630.hp1 NA18522.hp1 HG02630.hp1 NA18522.hp1	a0007 a0027 a0007 a0027	a0007c0006 a0027c0032 a0007c0006 a0027c0032	a0007c0006t0003 a0027c0032t0003 a0007c0006t0003 a0027c0032t0003	a0007c0006t0003g0044 a0027c0032t0003g0040 a0007c0006t0003g0044 a0027c0032t0003g0040	2	316	0.0063	-50	c.445 others(67): Show c.4452+217_4453-216delTTCTACTCCATCCCACCCCACTCCATCC CATCCCACCCCACCCCACCCCA	CFAP65	ENSG00000181378.14	transcript	ENST00000341552.10	protein_coding	27/34			chr2	TogoVar
CFAP69_chr7_90240174_90316063	90290743	GTCTTTTC others(43): Show GTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT T	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG00673.hp1 others(31): Show HG00408.hp2 HG00438.hp2 HG00673.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG02027.hp1 HG02056.hp2 HG02135.hp1 HG02486.hp2 HG02602.hp2 HG02738.hp1 HG03195.hp1 NA18943.hp2 NA18949.hp1 NA18959.hp1 NA18964.hp2 NA18965.hp2 NA18967.hp1 NA18974.hp1 NA18979.hp2 NA18980.hp2 NA18992.hp1 NA18998.hp1 NA19000.hp1 NA19003.hp1 NA19004.hp2 NA19007.hp2 NA19012.hp1 NA19058.hp1 NA19070.hp2 NA19079.hp1 NA19084.hp1 NA20905.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0020 a0001c0003t0001g0021 a0001c0003t0001g0022 others(28): Show a0001c0003t0001g0020 a0001c0003t0001g0021 a0001c0003t0001g0022 a0001c0003t0001g0286 a0001c0003t0001g0287 a0001c0003t0001g0288 a0001c0003t0001g0289 a0001c0003t0001g0290 a0001c0003t0001g0291 a0001c0003t0001g0292 a0001c0003t0001g0293 a0001c0003t0001g0294 a0001c0003t0001g0295 a0001c0003t0001g0296 a0001c0003t0001g0297 a0001c0003t0001g0298 a0001c0003t0001g0299 a0001c0003t0001g0300 a0001c0003t0001g0301 a0001c0003t0001g0302 a0001c0003t0001g0303 a0001c0003t0001g0304 a0001c0003t0001g0305 a0001c0003t0001g0306 a0001c0003t0001g0307 a0001c0003t0001g0308 a0001c0003t0001g0309 a0001c0003t0001g0310 a0001c0003t0001g0311 a0001c0003t0001g0312 a0001c0003t0001g0313	34	36	0.9444	-50	c.177 others(69): Show c.1775+2423_1775+2472delCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTT	CFAP69	ENSG00000105792.19	transcript	ENST00000389297.8	protein_coding	15/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CFAP70_chr10_73248762_73363864	73284737	CACATATA others(43): Show CACATATATATATATATATATATATATATATATATATATATATATATATA T	C C	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02257.hp2 HG01074.hp1 HG02257.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0027 a0004c0004t0001g0028 a0004c0004t0001g0027 a0004c0004t0001g0028	2	149	0.0134	-50	c.244 others(69): Show c.2449+6439_2450-6401delATATATATATATATATATATATATAT ATATATATATATATATATATATGT	CFAP70	ENSG00000156042.19	transcript	ENST00000355577.9	protein_coding	20/27			chr10	TogoVar
CFAP92_chr3_128904873_128999076	128955142	GGGGGGGG others(43): Show GGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG T	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00733.hp2 HG01070.hp2 others(22): Show HG00280.hp2 HG00733.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01192.hp1 HG01261.hp2 HG01515.hp2 HG02109.hp1 HG02257.hp1 HG02451.hp1 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02886.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp2 HG03453.hp1 HG03491.hp2 HG03492.hp2 HG03669.hp2 NA18906.hp1 NA18980.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0001 a0001c0001t0004 a0001c0016t0001 a0001c0001t0001 a0001c0001t0004 a0001c0016t0001	a0001c0001t0001g0006 a0001c0001t0001g0108 a0001c0001t0001g0188 others(21): Show a0001c0001t0001g0006 a0001c0001t0001g0108 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0282 a0001c0001t0001g0288 a0001c0001t0001g0295 a0001c0001t0004g0215 a0001c0001t0004g0274 a0001c0001t0004g0280 a0001c0001t0004g0281 a0001c0016t0001g0198	25	340	0.0735	-50	c.135 others(69): Show c.1354-9217_1354-9168delACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGGGGGGCTGACCCCCCC	CFAP92	ENSG00000114656.13	transcript	ENST00000645291.3	protein_coding	9/15			chr3	TogoVar
CFAP92_chr3_128904873_128999076	128955501	TGGGGGGG others(43): Show TGGGGGGGTCAGCCCCCCGACCGGCCAGCCGCCCCATCCGGGAGGGAGGT G	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00673.hp1 others(33): Show HG00099.hp1 HG00140.hp1 HG00673.hp1 HG01069.hp2 HG01071.hp1 HG01167.hp1 HG01175.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01516.hp2 HG02071.hp1 HG02080.hp1 HG02132.hp1 HG02148.hp2 HG02717.hp1 HG02735.hp2 HG03017.hp1 HG03490.hp2 HG03492.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04199.hp2 NA18522.hp2 NA18612.hp1 NA18957.hp2 NA18980.hp2 NA18983.hp2 NA18984.hp1 NA18992.hp2 NA18999.hp1 NA19009.hp2 NA19010.hp2 NA19056.hp2 NA19057.hp1	a0001 a0014 a0015 a0001 a0014 a0015	a0001c0001 a0014c0019 a0015c0015 a0001c0001 a0014c0019 a0015c0015	a0001c0001t0001 a0014c0019t0001 a0015c0015t0001 a0001c0001t0001 a0014c0019t0001 a0015c0015t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(32): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0014c0019t0001g0019 a0015c0015t0001g0270	36	167	0.2156	-50	c.135 others(69): Show c.1354-9576_1354-9527delCACCTCCCTCCCGGATGGGGCGGCTG GCCGGTCGGGGGGCTGACCCCCCC	CFAP92	ENSG00000114656.13	transcript	ENST00000645291.3	protein_coding	9/15			chr3	TogoVar
CFD_chr19_854664_868641	866633	CCTCCCCG others(43): Show CCTCCCCGTCCACCCGCCGCGGGCCTGCACCCCTCGCCAGCGCTCCCATG T	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp1 NA19078.hp2 HG02040.hp1 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0016 a0001c0001t0004g0005 a0001c0001t0002g0016 a0001c0001t0004g0005	2	286	0.0070	-50	c.33 others(61): Show c.3396_*3445delCTCCCCGTCCACCCGCCGCGGGCCTGCACCCCTC GCCAGCGCTCCCATGT	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		2993		chr19	TogoVar
CFD_chr19_854664_868641	866645	CCCGCCGC others(43): Show CCCGCCGCGGGCCTGCACCCCTCGCCAGCGCTCCCATGTCCTCCCCGTCC A	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp1 NA19060.hp1 HG02129.hp1 NA19060.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0002c0002t0001 a0001c0001t0005 a0002c0002t0001	a0001c0001t0005g0046 a0002c0002t0001g0009 a0001c0001t0005g0046 a0002c0002t0001g0009	2	285	0.0070	-50	c.34 others(61): Show c.3408_*3457delCCGCCGCGGGCCTGCACCCCTCGCCAGCGCTCCC ATGTCCTCCCCGTCCA	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		3005		chr19	TogoVar
CFD_chr19_854664_868641	866662	CCCCTCGC others(43): Show CCCCTCGCCAGCGCTCCCATGTCCTCCCCGTCCACCCGCCGCGGGCCTGC A	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	286	0.0035	-50	c.34 others(61): Show c.3425_*3474delCCCTCGCCAGCGCTCCCATGTCCTCCCCGTCCAC CCGCCGCGGGCCTGCA	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		3022		chr19	TogoVar
CFD_chr19_854664_868641	866677	CCCATGTC others(43): Show CCCATGTCCTCCCCGTCCACCCGCCGCGGGCCTGCACCCCTCGCCAGCGC T	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0022 a0001c0001t0010g0022	1	286	0.0035	-50	c.34 others(61): Show c.3440_*3489delCCATGTCCTCCCCGTCCACCCGCCGCGGGCCTGC ACCCCTCGCCAGCGCT	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		3037		chr19	TogoVar
CFD_chr19_854664_868641	866713	CCCCTCGC others(43): Show CCCCTCGCCAGCGCTCCCATCTCCTCCCCGTCCACCCGCCGCGGGCCTGC A	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	286	0.0035	-50	c.34 others(61): Show c.3476_*3525delCCCTCGCCAGCGCTCCCATCTCCTCCCCGTCCAC CCGCCGCGGGCCTGCA	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		3073		chr19	TogoVar
CFD_chr19_854664_868641	866911	CCCGCACC others(43): Show CCCGCACCCCTCGCCAGCGCTCCCATCTCCTCTCCGTCCACCCACTGCGG G	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	286	0.0035	-50	c.36 others(61): Show c.3674_*3723delCCGCACCCCTCGCCAGCGCTCCCATCTCCTCTCC GTCCACCCACTGCGGG	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		3271		chr19	TogoVar
CHD8_chr14_21380199_21461123	21442718	AGGGAGGA others(43): Show AGGGAGGAGAGGGGAAGAGACGGGAGGAGAGGGGAGGAGAGGGGAGGAGA G	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03041.hp2 HG02559.hp2 HG03041.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0001 a0001c0006t0001g0001	2	254	0.0079	-50	c.-21 others(71): Show c.-215-10910_-215-10861delCTCTCCTCCCCTCTCCTCCCCTCT CCTCCCGTCTCTTCCCCTCTCCTCCC	CHD8	ENSG00000100888.15	transcript	ENST00000646647.2	protein_coding	1/37			chr14	TogoVar
CHRDL1_chrX_110668856_110800817	110689476	CTATATAT others(43): Show CTATATATCTATATCTCTATATATCTATATATCTATATCTCTATATATCT A	C C	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0045 a0001c0002t0004g0045	1	161	0.0062	-50	c.779 others(65): Show c.779-723_779-674delTAGATATATAGAGATATAGATATATAGATA TATAGAGATATAGATATATA	CHRDL1	ENSG00000101938.15	transcript	ENST00000372042.6	protein_coding	8/11			chrX	TogoVar
CHRNA3_chr15_78590309_78625996	78611794	ATGACATG others(43): Show ATGACATGATTGTATATCTAGAAAACCCCATTGTCTCAGCCCAAAATCTC C	A A	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0004 a0001c0008t0004	a0001c0008t0004g0113 a0001c0008t0004g0113	1	408	0.0025	-50	c.377 others(67): Show c.377+5180_377+5229delGGAGATTTTGGGCTGAGACAATGGGGTT TTCTAGATATACAATCATGTCA	CHRNA3	ENSG00000080644.16	transcript	ENST00000326828.6	protein_coding	4/5			chr15	TogoVar
CHRNB4_chr15_78619111_78646210	78632203	TTCTTTCT others(43): Show TTCTTTCTTTCTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT C	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG00438.hp2 others(65): Show HG00280.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00621.hp1 HG00733.hp1 HG00741.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp1 HG02004.hp2 HG02015.hp2 HG02074.hp2 HG02129.hp2 HG02165.hp1 HG02257.hp1 HG02698.hp1 HG02717.hp2 HG02897.hp1 HG02965.hp2 HG03041.hp1 HG03239.hp2 HG03490.hp1 HG03492.hp2 HG03540.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18944.hp2 NA18947.hp2 NA18949.hp1 NA18956.hp1 NA18962.hp2 NA18965.hp1 NA18968.hp2 NA18972.hp1 NA18988.hp2 NA18990.hp2 NA18992.hp2 NA18994.hp2 NA19000.hp2 NA19009.hp1 NA19010.hp1 NA19012.hp1 NA19056.hp1 NA19060.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp2 NA19074.hp2 NA19087.hp2 NA20129.hp2 NA20805.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0011 a0001c0003t0002	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0070 others(28): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0070 a0001c0001t0001g0107 a0001c0001t0001g0139 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0002g0003 a0001c0001t0002g0010 a0001c0001t0002g0016 a0001c0001t0002g0021 a0001c0001t0002g0025 a0001c0001t0002g0029 a0001c0001t0002g0050 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0077 a0001c0001t0002g0092 a0001c0001t0002g0101 a0001c0001t0002g0118 a0001c0001t0002g0196 a0001c0001t0003g0015 a0001c0001t0003g0105 a0001c0001t0003g0120 a0001c0001t0009g0022 a0001c0001t0009g0056 a0001c0001t0011g0024 a0001c0003t0002g0008	68	414	0.1643	-50	c.205 others(65): Show c.205-921_205-872delGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAAAGAGAAAGAAAGA	CHRNB4	ENSG00000117971.12	transcript	ENST00000261751.8	protein_coding	2/5			chr15	TogoVar
CHST12_chr7_2398611_2453484	2452517	GCCCTGCC others(43): Show GCCCTGCCCTGCCCTGCCCTGCCCTGCCCTGCCCTGCCCTCCCCTCCCCT C	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0276 a0001c0001t0276	a0001c0001t0276g0162 a0001c0001t0276g0162	1	341	0.0029	-50	c.18 others(63): Show c.18634_*18683delCCCTGCCCTGCCCTGCCCTGCCCTGCCCTGCC CTGCCCTCCCCTCCCCTC	CHST12	ENSG00000136213.10	transcript	ENST00000618655.2	protein_coding		4034		chr7	TogoVar
CHST15_chr10_124002668_124098598	124034671	TACCCCCT others(43): Show TACCCCCTAACAGGGACCCCGGCTCCACCCCCTAACAGGGACCCCGGCTC C	T T	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	226	0.0044	-50	c.119 others(69): Show c.1190+3794_1190+3843delGGAGCCGGGGTCCCTGTTAGGGGGTG GAGCCGGGGTCCCTGTTAGGGGGT	CHST15	ENSG00000182022.18	transcript	ENST00000435907.6	protein_coding	5/7			chr10	TogoVar
CHST15_chr10_124002668_124098598	124035101	AGGGACCC others(43): Show AGGGACCCCGGCTCCGCCCCCTAACAGGGACCCCGGCTCCGCCCCCTAAC G	A A	intron_variant intron_variant	MODIFIER	HG03669.hp1 NA18955.hp2 HG03669.hp1 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0002 a0001c0001t0012	a0001c0001t0002g0125 a0001c0001t0012g0049 a0001c0001t0002g0125 a0001c0001t0012g0049	2	388	0.0052	-50	c.119 others(69): Show c.1190+3364_1190+3413delCGTTAGGGGGCGGAGCCGGGGTCCCT GTTAGGGGGCGGAGCCGGGGTCCC	CHST15	ENSG00000182022.18	transcript	ENST00000435907.6	protein_coding	5/7			chr10	TogoVar
CHST8_chr19_33616953_33778506	33757384	AAAGAAGA others(43): Show AAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA G	A A	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0025 a0001c0001t0001g0029	2	238	0.0084	-50	c.131 others(69): Show c.131-14026_131-13977delGAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAA	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHST8_chr19_33616953_33778506	33757472	AAGAAAGA others(43): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA G	A A	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	226	0.0044	-50	c.131 others(69): Show c.131-13889_131-13840delGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGA	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CLCN7_chr16_1439935_1480028	1457357	GTGCTCAG others(43): Show GTGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCG A	G G	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02155.hp1 HG02165.hp2 others(14): Show HG00558.hp2 HG02155.hp1 HG02165.hp2 HG02451.hp2 HG02486.hp2 HG03195.hp1 HG03491.hp2 HG06807.hp2 NA18942.hp2 NA18967.hp2 NA18974.hp2 NA18995.hp1 NA19005.hp1 NA19005.hp2 NA19011.hp2 NA19063.hp1 NA19067.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0005c0018	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(7): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0034 a0001c0003t0001 a0001c0003t0002 a0001c0003t0038 a0001c0004t0001 a0001c0007t0003 a0005c0018t0053	a0001c0001t0001g0105 a0001c0002t0001g0060 a0001c0002t0001g0069 others(14): Show a0001c0001t0001g0105 a0001c0002t0001g0060 a0001c0002t0001g0069 a0001c0002t0001g0086 a0001c0002t0001g0127 a0001c0002t0001g0154 a0001c0002t0002g0204 a0001c0002t0034g0276 a0001c0003t0001g0309 a0001c0003t0001g0338 a0001c0003t0002g0315 a0001c0003t0038g0314 a0001c0004t0001g0310 a0001c0004t0001g0331 a0001c0007t0003g0190 a0001c0007t0003g0191 a0005c0018t0053g0275	17	395	0.0430	-50	c.739 others(63): Show c.739-70_739-21delTCGGTCCTTCTGGTCTCCAGGAAGGGCCGCGT CACGCGTGTCTCTGAGCA	CLCN7	ENSG00000103249.19	transcript	ENST00000382745.9	protein_coding	8/24			chr16	TogoVar
CLCN7_chr16_1439935_1480028	1457457	ATGCTCAG others(43): Show ATGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCG G	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00738.hp2 HG01070.hp2 others(14): Show HG00639.hp1 HG00738.hp2 HG01070.hp2 HG01257.hp1 HG01346.hp1 HG02004.hp1 HG02257.hp1 HG02280.hp1 HG02572.hp1 HG02630.hp1 HG02717.hp2 HG02922.hp1 HG03225.hp2 HG03471.hp2 NA18906.hp1 NA19240.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0006 a0002c0011	a0001c0001t0001 a0001c0001t0008 a0001c0002t0002 others(8): Show a0001c0001t0001 a0001c0001t0008 a0001c0002t0002 a0001c0002t0015 a0001c0002t0036 a0001c0002t0042 a0001c0003t0002 a0001c0003t0008 a0001c0004t0001 a0002c0006t0010 a0002c0011t0018	a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0008g0078 others(13): Show a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0008g0078 a0001c0002t0002g0012 a0001c0002t0002g0280 a0001c0002t0002g0281 a0001c0002t0015g0051 a0001c0002t0015g0267 a0001c0002t0015g0274 a0001c0002t0036g0206 a0001c0002t0042g0268 a0001c0003t0002g0328 a0001c0003t0008g0382 a0001c0004t0001g0001 a0002c0006t0010g0257 a0002c0011t0018g0253	17	359	0.0474	-50	c.739 others(65): Show c.739-170_739-121delCCGGTCCTTCTGGTCTCCAGGAAGGGCCGC GTCACGCGTGTCTCTGAGCA	CLCN7	ENSG00000103249.19	transcript	ENST00000382745.9	protein_coding	8/24			chr16	TogoVar
CLDN4_chr7_73825996_73837690	73836214	TCCGGGAG others(43): Show TCCGGGAGGGAGGTGGGGGCATCAGCCCCCCGCCCGGCCAGCCGCCCCGT C	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	370	0.0027	-50	c.43 others(61): Show c.4384_*4433delCCGGGAGGGAGGTGGGGGCATCAGCCCCCCGCCC GGCCAGCCGCCCCGTC	CLDN4	ENSG00000189143.10	transcript	ENST00000340958.4	protein_coding		3525		chr7	TogoVar
CLDN4_chr7_73825996_73837690	73836227	TGGGGGCA others(43): Show TGGGGGCATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGT G	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	370	0.0027	-50	c.43 others(61): Show c.4397_*4446delGGGGGCATCAGCCCCCCGCCCGGCCAGCCGCCCC GTCCAGGAGGGAGGTG	CLDN4	ENSG00000189143.10	transcript	ENST00000340958.4	protein_coding		3538		chr7	TogoVar
CLIC5_chr6_45893456_46020860	46006077	TACACATG others(43): Show TACACATGTATAAATACATATATATATATATATATACACATGTATAAATA C	T T	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0040 a0001c0001t0040g0040	1	328	0.0030	-50	c.63+ others(65): Show c.63+9353_63+9402delGTATTTATACATGTGTATATATATATATAT ATATGTATTTATACATGTGT	CLIC5	ENSG00000112782.19	transcript	ENST00000339561.12	protein_coding	1/5			chr6	TogoVar
CLIC5_chr6_45893456_46020860	46016093	GAAGGGGA others(43): Show GAAGGGGAAGGGGAAGAGGAAGGGGAAAGGGGAAGGGGAAGAGGAAGGGG A	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00741.hp1 others(23): Show HG00280.hp2 HG00323.hp1 HG00741.hp1 HG01261.hp1 HG01346.hp2 HG01934.hp1 HG02257.hp1 HG02257.hp2 HG02451.hp1 HG02559.hp1 HG02622.hp2 HG02647.hp2 HG02723.hp1 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02976.hp2 HG03041.hp2 HG03195.hp2 HG03209.hp1 HG03486.hp1 HG03579.hp2 NA19030.hp1 NA19030.hp2 NA19240.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0013 a0001c0001t0014 a0001c0001t0022 a0001c0001t0027 a0001c0001t0040 a0001c0001t0041	a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0018 others(23): Show a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0041 a0001c0001t0002g0016 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0037 a0001c0001t0004g0027 a0001c0001t0008g0029 a0001c0001t0008g0036 a0001c0001t0008g0044 a0001c0001t0013g0043 a0001c0001t0013g0045 a0001c0001t0013g0048 a0001c0001t0014g0009 a0001c0001t0022g0028 a0001c0001t0027g0010 a0001c0001t0040g0040 a0001c0001t0041g0017	26	45	0.5778	-50	c.-60 others(59): Show c.-601_-552delTCCCCTTCCTCTTCCCCTTCCCCTTTCCCCTTCCTC TTCCCCTTCCCCTT	CLIC5	ENSG00000112782.19	transcript	ENST00000339561.12	protein_coding		234		chr6	TogoVar
CLINT1_chr5_157780747_157864145	157860673	GGGCACAC others(43): Show GGGCACACTCTTGTGAGGCCAGCTACTTAGGAGGTTGAAATGGAAGGATC C	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	269	0.0037	-50	c.-17 others(61): Show c.-1753_-1704delGGATCCTTCCATTTCAACCTCCTAAGTAGCTGGC CTCACAAGAGTGTGCC	CLINT1	ENSG00000113282.14	transcript	ENST00000411809.7	protein_coding		1529		chr5	TogoVar
CLMP_chr11_123064872_123200248	123118955	TTCTTTCT others(43): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCT C	T T	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0087 a0001c0001t0016g0087	1	250	0.0040	-50	c.29- others(67): Show c.29-21053_29-21004delGAGAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGA	CLMP	ENSG00000166250.12	transcript	ENST00000448775.4	protein_coding	1/6			chr11	TogoVar
CLPX_chr15_65143219_65190342	65145972	AATATATA others(43): Show AATATATATATAAATATATATATAAATATATATATAAATATATATATAAA T	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02895.hp1 HG01891.hp2 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0006 a0001c0001t0006g0006	2	183	0.0109	-50	c.48 others(61): Show c.4801_*4850delATTTATATATATATTTATATATATATTTATATAT ATATTTATATATATAT	CLPX	ENSG00000166855.9	transcript	ENST00000300107.7	protein_coding		2246		chr15	TogoVar
CLPX_chr15_65143219_65190342	65146032	AATATATA others(43): Show AATATATATATAAATATATATATAAATATATATATAAATATATATATAAA T	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0014 a0001c0004t0014	a0001c0004t0014g0176 a0001c0004t0014g0176	1	183	0.0055	-50	c.47 others(61): Show c.4741_*4790delATTTATATATATATTTATATATATATTTATATAT ATATTTATATATATAT	CLPX	ENSG00000166855.9	transcript	ENST00000300107.7	protein_coding		2186		chr15	TogoVar
CNGA1_chr4_47930977_48021681	47976264	TATATATA others(43): Show TATATATACATATATATGTATATATATATATACACATACATATATATATA C	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02145.hp2 HG03041.hp2 others(1): Show HG02109.hp2 HG02145.hp2 HG03041.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 others(1): Show a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202	4	364	0.0110	-50	c.-15 others(67): Show c.-15+5079_-15+5128delGTATATATATATGTATGTGTATATATAT ATATACATATATATGTATATAT	CNGA1	ENSG00000198515.16	transcript	ENST00000514170.7	protein_coding	3/10			chr4	TogoVar
CNGB3_chr8_86569179_86748634	86694049	GGACGGGG others(43): Show GGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCC A	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00408.hp1 others(103): Show HG00140.hp1 HG00280.hp1 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00544.hp2 HG00621.hp1 HG00733.hp2 HG00735.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01167.hp1 HG01175.hp2 HG01346.hp2 HG01358.hp2 HG01433.hp2 HG01891.hp2 HG01928.hp2 HG01978.hp1 HG02004.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02080.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp2 HG02148.hp1 HG02165.hp2 HG02258.hp1 HG02280.hp1 HG02293.hp2 HG02523.hp1 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp2 HG02647.hp1 HG02683.hp2 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG03139.hp1 HG03225.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03516.hp1 HG03654.hp2 HG03669.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp2 HG04115.hp2 HG04204.hp2 NA18522.hp1 NA18747.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp2 NA18948.hp1 NA18950.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18957.hp1 NA18957.hp2 NA18960.hp2 NA18963.hp2 NA18964.hp1 NA18966.hp1 NA18968.hp1 NA18970.hp2 NA18973.hp2 NA18979.hp2 NA18982.hp1 NA18988.hp2 NA18994.hp1 NA18999.hp1 NA19001.hp2 NA19006.hp1 NA19009.hp2 NA19060.hp1 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19080.hp1 NA19082.hp2 NA19084.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0008 a0012 a0014	a0001c0001 a0002c0002 a0003c0004 others(3): Show a0001c0001 a0002c0002 a0003c0004 a0008c0008 a0012c0022 a0014c0018	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0002c0002t0001 a0002c0002t0003 a0003c0004t0002 a0003c0004t0007 a0008c0008t0001 a0012c0022t0001 a0014c0018t0001	a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 others(103): Show a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0175 a0001c0001t0001g0183 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0215 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0003g0214 a0001c0001t0003g0219 a0001c0001t0004g0260 a0001c0001t0005g0184 a0001c0001t0005g0185 a0001c0001t0005g0186 a0001c0001t0005g0212 a0001c0001t0005g0213 a0001c0001t0009g0286 a0002c0002t0001g0216 a0002c0002t0001g0274 a0002c0002t0003g0199 a0003c0004t0002g0202 a0003c0004t0002g0223 a0003c0004t0002g0243 a0003c0004t0002g0249 a0003c0004t0002g0250 a0003c0004t0002g0273 a0003c0004t0002g0283 a0003c0004t0007g0231 a0008c0008t0001g0002 a0008c0008t0001g0003 a0008c0008t0001g0004 a0008c0008t0001g0005 a0008c0008t0001g0006 a0008c0008t0001g0007 a0012c0022t0001g0287 a0014c0018t0001g0206	106	286	0.3706	-50	c.339 others(69): Show c.339-23001_339-22952delTGGGAGGGAGGTGGGGGGGTCAGCCC CCCCGCCCGGCCAGCCGCCCCGTC	CNGB3	ENSG00000170289.13	transcript	ENST00000320005.6	protein_coding	3/17			chr8	TogoVar
CNGB3_chr8_86569179_86748634	86694147	TGGACGGG others(43): Show TGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCC C	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01433.hp1 HG02004.hp2 others(4): Show HG00735.hp1 HG01433.hp1 HG02004.hp2 HG02109.hp1 HG02615.hp2 HG02895.hp1 NA19030.hp1	a0001 a0003 a0007 others(2): Show a0001 a0003 a0007 a0013 a0018	a0001c0001 a0003c0011 a0007c0007 others(2): Show a0001c0001 a0003c0011 a0007c0007 a0013c0019 a0018c0017	a0001c0001t0001 a0001c0001t0004 a0003c0011t0002 others(3): Show a0001c0001t0001 a0001c0001t0004 a0003c0011t0002 a0007c0007t0001 a0013c0019t0002 a0018c0017t0001	a0001c0001t0001g0035 a0001c0001t0001g0176 a0001c0001t0004g0017 others(4): Show a0001c0001t0001g0035 a0001c0001t0001g0176 a0001c0001t0004g0017 a0003c0011t0002g0063 a0007c0007t0001g0014 a0013c0019t0002g0009 a0018c0017t0001g0096	7	286	0.0245	-50	c.339 others(69): Show c.339-23099_339-23050delGGGAGGGAGGTGGGGGGGGTCAGCCC CCCGCCCGGCCAGCCGCCCCGTCC	CNGB3	ENSG00000170289.13	transcript	ENST00000320005.6	protein_coding	3/17			chr8	TogoVar
CNTN1_chr12_40687439_41077415	40983830	ATATGCTA others(43): Show ATATGCTATTATAGCATATTTTATTATATGCTATTATAGCATATTTTATT T	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01069.hp2 HG01255.hp1 others(12): Show HG00099.hp1 HG01069.hp2 HG01255.hp1 HG01884.hp2 HG02273.hp1 HG02559.hp1 HG02895.hp2 HG02897.hp1 HG03041.hp1 HG03098.hp2 HG03195.hp2 HG03209.hp2 NA19030.hp2 NA19043.hp2 NA21309.hp1	a0001 a0001	a0001c0004 a0001c0005 a0001c0006 a0001c0004 a0001c0005 a0001c0006	a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 others(3): Show a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0007 a0001c0005t0007 a0001c0006t0006	a0001c0004t0001g0217 a0001c0004t0002g0008 a0001c0004t0003g0166 others(12): Show a0001c0004t0001g0217 a0001c0004t0002g0008 a0001c0004t0003g0166 a0001c0004t0003g0169 a0001c0004t0007g0003 a0001c0004t0007g0004 a0001c0004t0007g0057 a0001c0004t0007g0212 a0001c0004t0007g0213 a0001c0005t0007g0148 a0001c0006t0006g0015 a0001c0006t0006g0017 a0001c0006t0006g0022 a0001c0006t0006g0051 a0001c0006t0006g0119	15	230	0.0652	-50	c.196 others(69): Show c.1963+2813_1963+2862delTTATGCTATTATAGCATATTTTATTA TATGCTATTATAGCATATTTTATT	CNTN1	ENSG00000018236.15	transcript	ENST00000551295.7	protein_coding	16/23		INFO_REALIGN_3_PRIME	chr12	TogoVar
CNTN5_chr11_99015949_100363885	99598282	TTCTTTTC others(43): Show TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTGTCCCT C	T T	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0002 a0005c0004t0002	a0005c0004t0002g0001 a0005c0004t0002g0001	1	54	0.0185	-50	c.55+ others(67): Show c.55+42017_55+42066delTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTGTCCCTCTCT	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
COBL_chr7_51011212_51321809	51208375	TGGGAGGG others(43): Show TGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTC C	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01258.hp2 HG02683.hp2 others(10): Show HG00099.hp2 HG01258.hp2 HG02683.hp2 HG02738.hp2 HG03669.hp1 NA18747.hp1 NA18945.hp1 NA18960.hp1 NA18971.hp1 NA18983.hp2 NA18995.hp2 NA19007.hp1 NA19065.hp2	a0001 a0003 a0001 a0003	a0001c0006 a0001c0009 a0001c0019 others(2): Show a0001c0006 a0001c0009 a0001c0019 a0001c0020 a0003c0011	a0001c0006t0002 a0001c0006t0003 a0001c0009t0001 others(4): Show a0001c0006t0002 a0001c0006t0003 a0001c0009t0001 a0001c0009t0002 a0001c0019t0001 a0001c0020t0003 a0003c0011t0001	a0001c0006t0002g0041 a0001c0006t0003g0036 a0001c0006t0003g0037 others(10): Show a0001c0006t0002g0041 a0001c0006t0003g0036 a0001c0006t0003g0037 a0001c0006t0003g0039 a0001c0006t0003g0051 a0001c0006t0003g0120 a0001c0006t0003g0183 a0001c0006t0003g0195 a0001c0009t0001g0056 a0001c0009t0002g0075 a0001c0019t0001g0032 a0001c0020t0003g0034 a0003c0011t0001g0050	13	228	0.0570	-50	c.245 others(69): Show c.245+11316_245+11365delGGACGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCCACCTCCCTCCC	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	2/12			chr7	TogoVar
COL18A1_chr21_45400165_45518720	45405063	CGCCCGCC others(43): Show CGCCCGCCCCCTGCCCGCGCCCGCCCCGCCCCCTGCCCGGCCCCTGCCCG G	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0223 a0001c0007t0002g0223	1	290	0.0034	-50	c.-16 others(59): Show c.-167_-118delGCCCGCCCCCTGCCCGCGCCCGCCCCGCCCCCTGCC CGGCCCCTGCCCGG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding		101		chr21	TogoVar
COL19A1_chr6_69861556_70217468	69982223	GCTCTGTC others(43): Show GCTCTGTCTCCCAGGCTGGAGTGCAGTGGCACAGTCTCAGCTCACTGCTA C	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00673.hp2 HG00741.hp2 others(31): Show HG00642.hp2 HG00673.hp2 HG00741.hp2 HG01099.hp1 HG01167.hp1 HG01175.hp2 HG01256.hp2 HG01257.hp2 HG01884.hp2 HG01952.hp2 HG02074.hp1 HG02165.hp1 HG02257.hp1 HG02683.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp2 HG03130.hp1 HG03540.hp2 HG04199.hp2 HG04228.hp1 NA18942.hp1 NA18949.hp2 NA18962.hp2 NA18964.hp2 NA18979.hp2 NA18991.hp1 NA19043.hp1 NA19056.hp2 NA19072.hp1 NA19077.hp2 NA19082.hp1 NA19084.hp2 NA20300.hp1	a0002 a0003 a0008 a0002 a0003 a0008	a0002c0003 a0002c0004 a0002c0006 others(4): Show a0002c0003 a0002c0004 a0002c0006 a0002c0009 a0002c0011 a0003c0010 a0008c0021	a0002c0003t0002 a0002c0003t0012 a0002c0003t0021 others(14): Show a0002c0003t0002 a0002c0003t0012 a0002c0003t0021 a0002c0003t0031 a0002c0003t0034 a0002c0004t0001 a0002c0004t0002 a0002c0004t0008 a0002c0004t0011 a0002c0006t0003 a0002c0006t0007 a0002c0006t0036 a0002c0009t0004 a0002c0011t0005 a0003c0010t0013 a0003c0010t0027 a0008c0021t0001	a0002c0003t0002g0018 a0002c0003t0002g0020 a0002c0003t0002g0026 others(31): Show a0002c0003t0002g0018 a0002c0003t0002g0020 a0002c0003t0002g0026 a0002c0003t0002g0032 a0002c0003t0002g0040 a0002c0003t0002g0042 a0002c0003t0002g0043 a0002c0003t0002g0045 a0002c0003t0002g0049 a0002c0003t0012g0164 a0002c0003t0021g0015 a0002c0003t0031g0075 a0002c0003t0034g0041 a0002c0004t0001g0036 a0002c0004t0001g0048 a0002c0004t0001g0124 a0002c0004t0002g0033 a0002c0004t0008g0038 a0002c0004t0011g0039 a0002c0006t0003g0029 a0002c0006t0003g0030 a0002c0006t0003g0034 a0002c0006t0003g0035 a0002c0006t0007g0019 a0002c0006t0007g0085 a0002c0006t0036g0017 a0002c0009t0004g0031 a0002c0009t0004g0037 a0002c0011t0005g0021 a0002c0011t0005g0076 a0003c0010t0013g0172 a0003c0010t0013g0173 a0003c0010t0027g0119 a0008c0021t0001g0052	34	180	0.1889	-50	c.102 others(71): Show c.1026+19407_1026+19456delTGTCTCCCAGGCTGGAGTGCAGTG GCACAGTCTCAGCTCACTGCTACCTC	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	11/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL21A1_chr6_56051590_56252580	56211161	GTGTATAT others(43): Show GTGTATATGTATATATACATATATATGTATATATGTATATATACATATAT A	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(169): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00408.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG01993.hp1 HG02132.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18948.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18965.hp1 NA18965.hp2 NA18968.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18981.hp1 NA18981.hp2 NA18986.hp2 NA18989.hp2 NA18994.hp1 NA18995.hp2 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19010.hp2 NA19043.hp1 NA19043.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19074.hp1 NA19074.hp2 NA19084.hp1 NA19089.hp1 NA20805.hp2 NA20905.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0008 a0010 a0011 a0012 a0013	a0001c0001 a0001c0007 a0001c0015 others(13): Show a0001c0001 a0001c0007 a0001c0015 a0001c0018 a0001c0022 a0001c0024 a0002c0008 a0003c0005 a0003c0006 a0004c0016 a0005c0009 a0008c0017 a0010c0023 a0011c0021 a0012c0019 a0013c0020	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(32): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0021 a0001c0007t0002 a0001c0007t0004 a0001c0015t0001 a0001c0018t0001 a0001c0022t0003 a0001c0024t0022 a0002c0008t0001 a0002c0008t0003 a0002c0008t0006 a0003c0005t0001 a0003c0005t0007 a0003c0005t0014 a0003c0006t0007 a0004c0016t0004 a0005c0009t0004 a0008c0017t0001 a0010c0023t0010 a0011c0021t0020 a0012c0019t0006 a0013c0020t0001	a0001c0001t0001g0001 a0001c0001t0001g0101 a0001c0001t0001g0102 others(167): Show a0001c0001t0001g0001 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0197 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0262 a0001c0001t0003g0029 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0043 a0001c0001t0003g0045 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0062 a0001c0001t0003g0064 a0001c0001t0003g0066 a0001c0001t0003g0074 a0001c0001t0003g0076 a0001c0001t0003g0078 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0085 a0001c0001t0003g0086 a0001c0001t0003g0093 a0001c0001t0004g0073 a0001c0001t0004g0084 a0001c0001t0005g0096 a0001c0001t0005g0134 a0001c0001t0005g0153 a0001c0001t0005g0154 a0001c0001t0005g0155 a0001c0001t0005g0170 a0001c0001t0005g0171 a0001c0001t0005g0177 a0001c0001t0005g0225 a0001c0001t0005g0226 a0001c0001t0005g0227 a0001c0001t0005g0230 a0001c0001t0005g0232 a0001c0001t0005g0234 a0001c0001t0005g0257 a0001c0001t0006g0009 a0001c0001t0006g0012 a0001c0001t0006g0013 a0001c0001t0006g0014 a0001c0001t0006g0015 a0001c0001t0006g0018 a0001c0001t0006g0019 a0001c0001t0006g0020 a0001c0001t0006g0022 a0001c0001t0008g0036 a0001c0001t0008g0041 a0001c0001t0008g0042 a0001c0001t0008g0054 a0001c0001t0008g0058 a0001c0001t0008g0059 a0001c0001t0008g0061 a0001c0001t0009g0031 a0001c0001t0009g0033 a0001c0001t0009g0034 a0001c0001t0009g0039 a0001c0001t0009g0040 a0001c0001t0010g0016 a0001c0001t0011g0007 a0001c0001t0011g0008 a0001c0001t0011g0025 a0001c0001t0012g0002 a0001c0001t0012g0003 a0001c0001t0014g0087 a0001c0001t0015g0057 a0001c0001t0015g0083 a0001c0001t0016g0143 a0001c0001t0016g0236 a0001c0001t0018g0032 a0001c0001t0021g0138 a0001c0007t0002g0260 a0001c0007t0002g0261 a0001c0007t0004g0065 a0001c0007t0004g0067 a0001c0007t0004g0077 a0001c0015t0001g0150 a0001c0018t0001g0135 a0001c0022t0003g0063 a0001c0024t0022g0147 a0002c0008t0001g0100 a0002c0008t0001g0169 a0002c0008t0003g0060 a0002c0008t0006g0021 a0003c0005t0001g0156 a0003c0005t0007g0119 a0003c0005t0007g0121 a0003c0005t0007g0199 a0003c0005t0007g0201 a0003c0005t0007g0202 a0003c0005t0007g0250 a0003c0005t0014g0035 a0003c0006t0007g0198 a0003c0006t0007g0200 a0003c0006t0007g0203 a0003c0006t0007g0204 a0003c0006t0007g0205 a0004c0016t0004g0079 a0005c0009t0004g0055 a0005c0009t0004g0056 a0005c0009t0004g0072 a0008c0017t0001g0233 a0010c0023t0010g0011 a0011c0021t0020g0095 a0012c0019t0006g0024 a0013c0020t0001g0180	172	262	0.6565	-50	c.-38 others(69): Show c.-38-28555_-38-28506delTATATATGTATATATACATATATACA TATATATGTATATATACATATACA	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	1/29			chr6	TogoVar
COL23A1_chr5_178232618_178595393	178418668	GTGGCCAC others(43): Show GTGGCCACACCAAGTCCTTTGTAGGTGGCAGGCTGGAGATGGAGAGGATT A	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02615.hp1 HG02622.hp1 others(6): Show HG01884.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02886.hp2 HG02895.hp2 HG02970.hp1 HG03453.hp2 NA19240.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0002c0003 others(2): Show a0001c0001 a0002c0002 a0002c0003 a0003c0004 a0004c0006	a0001c0001t0003 a0001c0001t0005 a0002c0002t0009 others(4): Show a0001c0001t0003 a0001c0001t0005 a0002c0002t0009 a0002c0003t0002 a0003c0004t0002 a0003c0004t0003 a0004c0006t0003	a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0005g0216 others(6): Show a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0005g0216 a0002c0002t0009g0225 a0002c0003t0002g0140 a0003c0004t0002g0005 a0003c0004t0002g0061 a0003c0004t0003g0220 a0004c0006t0003g0128	9	236	0.0381	-50	c.362 others(71): Show c.362-111799_362-111750delTAATCCTCTCCATCTCCAGCCTGC CACCTACAAAGGACTTGGTGTGGCCA	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL4A1_chr13_110143963_110312157	110253264	TATATACA others(43): Show TATATACATATAATTATATGTATTACATATACATATAATTATATGTATTA C	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02723.hp1 HG02895.hp2 HG02622.hp2 HG02723.hp1 HG02895.hp2	a0002 a0002	a0002c0004 a0002c0011 a0002c0015 a0002c0004 a0002c0011 a0002c0015	a0002c0004t0001 a0002c0011t0001 a0002c0015t0001 a0002c0004t0001 a0002c0011t0001 a0002c0015t0001	a0002c0004t0001g0188 a0002c0011t0001g0214 a0002c0015t0001g0229 a0002c0004t0001g0188 a0002c0011t0001g0214 a0002c0015t0001g0229	3	279	0.0108	-50	c.85- others(67): Show c.85-10580_85-10531delGTAATACATATAATTATATGTATATGTA ATACATATAATTATATGTATAT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A2_chr13_110302284_110518209	110483680	GTGGATTC others(43): Show GTGGATTCGCAGTTTCCTACACTTGATCTTAGCCAAAAGGCCGAGAAGCG A	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01346.hp1 HG02055.hp1 others(20): Show HG00738.hp1 HG01346.hp1 HG02055.hp1 HG02109.hp1 HG02451.hp2 HG02622.hp1 HG02647.hp2 HG02922.hp1 HG02976.hp2 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03453.hp1 HG03486.hp1 HG03540.hp1 HG03579.hp1 HG03669.hp1 HG03927.hp2 HG03942.hp1 NA18522.hp2 NA20300.hp1 NA20300.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0007 a0013 a0020	a0001c0001 a0001c0002 a0001c0011 others(16): Show a0001c0001 a0001c0002 a0001c0011 a0001c0014 a0001c0022 a0001c0077 a0001c0114 a0001c0119 a0002c0013 a0002c0063 a0002c0090 a0002c0110 a0002c0111 a0003c0093 a0003c0116 a0007c0031 a0007c0060 a0013c0057 a0020c0072	a0001c0001t0003 a0001c0002t0001 a0001c0002t0029 others(20): Show a0001c0001t0003 a0001c0002t0001 a0001c0002t0029 a0001c0011t0022 a0001c0014t0026 a0001c0022t0014 a0001c0077t0005 a0001c0114t0010 a0001c0119t0032 a0002c0013t0001 a0002c0013t0002 a0002c0013t0005 a0002c0013t0006 a0002c0063t0007 a0002c0090t0008 a0002c0110t0008 a0002c0111t0015 a0003c0093t0010 a0003c0116t0022 a0007c0031t0002 a0007c0060t0015 a0013c0057t0001 a0020c0072t0048	a0001c0001t0003g0098 a0001c0002t0001g0101 a0001c0002t0029g0204 others(20): Show a0001c0001t0003g0098 a0001c0002t0001g0101 a0001c0002t0029g0204 a0001c0011t0022g0358 a0001c0014t0026g0156 a0001c0022t0014g0037 a0001c0077t0005g0236 a0001c0114t0010g0030 a0001c0119t0032g0005 a0002c0013t0001g0044 a0002c0013t0002g0265 a0002c0013t0005g0188 a0002c0013t0006g0118 a0002c0063t0007g0147 a0002c0090t0008g0041 a0002c0110t0008g0014 a0002c0111t0015g0368 a0003c0093t0010g0148 a0003c0116t0022g0367 a0007c0031t0002g0364 a0007c0060t0015g0264 a0013c0057t0001g0234 a0020c0072t0048g0223	23	370	0.0622	-50	c.290 others(69): Show c.2902+1040_2902+1089delCACTTGATCTTAGCCAAAAGGCCGAG AAGCGATGGATTCGCAGTTTCCTA	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	32/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL5A1_chr9_134636803_134849843	134669212	TTTCCCTT others(43): Show TTTCCCTTCCCTTCCCTTCCCTTTCCTTCCCTTCCCTTCCCTTCCCTTCC C	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02257.hp2 HG02280.hp2 others(7): Show HG01109.hp1 HG02257.hp2 HG02280.hp2 HG02572.hp2 HG02886.hp2 HG02922.hp2 HG03041.hp1 HG03139.hp2 HG03453.hp2 HG03516.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0006 a0001c0007 others(3): Show a0001c0001 a0001c0006 a0001c0007 a0001c0009 a0001c0016 a0005c0034	a0001c0001t0020 a0001c0006t0019 a0001c0006t0047 others(7): Show a0001c0001t0020 a0001c0006t0019 a0001c0006t0047 a0001c0007t0001 a0001c0009t0003 a0001c0009t0023 a0001c0016t0001 a0001c0016t0012 a0001c0016t0046 a0005c0034t0009	a0001c0001t0020g0196 a0001c0006t0019g0264 a0001c0006t0047g0019 others(7): Show a0001c0001t0020g0196 a0001c0006t0019g0264 a0001c0006t0047g0019 a0001c0007t0001g0187 a0001c0009t0003g0261 a0001c0009t0023g0263 a0001c0016t0001g0022 a0001c0016t0012g0021 a0001c0016t0046g0020 a0005c0034t0009g0195	10	213	0.0469	-50	c.110 others(69): Show c.110-21677_110-21628delTCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL6A1_chr21_45976770_46010048	45977777	GGAGGGAG others(43): Show GGAGGGAGGGGGAGAGAGGAGGGAGGGGGAGAGAGGAGGGAGGGGGAGAG A	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	1	126	0.0079	-50	c.-40 others(61): Show c.-4073_-4024delGAGGGAGGGGGAGAGAGGAGGGAGGGGGAGAGAG GAGGGAGGGGGAGAGA	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		3992		chr21	TogoVar

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