Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ADGRD1_chr12_130948907_131146469	131037359	CTGGGTCT others(86): Show CTGGGTCTTACTCACTGCACTGGGGTCTCACTCACTACACCAGGTCTCAG TCACTGCACTGGGTCTCACTGCACCAGGATCTTACTCACTGCAT	C C	intron_variant intron_variant	MODIFIER	HG01934.hp2 NA19043.hp2 HG01934.hp2 NA19043.hp2	a0001 a0001	a0001c0022 a0001c0025 a0001c0022 a0001c0025	a0001c0022t0016 a0001c0025t0021 a0001c0022t0016 a0001c0025t0021	a0001c0022t0016g0109 a0001c0025t0021g0119 a0001c0022t0016g0109 a0001c0025t0021g0119	2	240	0.0083	-93	c.147 others(114): Show c.1473+23020_1473+23112delTGGGTCTTACTCACTGCACTGGGG TCTCACTCACTACACCAGGTCTCAGTCACTGCACTGGGTCTCACTGCACC AGGATCTTACTCACTGCAT		ADGRD1	ENSG00000111452.13	transcript	ENST00000261654.10	protein_coding	13/24						chr12	TogoVar
AHRR_chr5_316714_443285	382731	ATTTGTCT others(86): Show ATTTGTCTATTTGTCTATTTTCCATTTCATTAATTTCCACTCTTCTTGTT TGTAATTTATTTCCTTCTACTTGCTCTAGTTTTAAATATTTTAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00735.hp2 HG01081.hp2 others(23): Show HG00280.hp2 HG00735.hp2 HG01081.hp2 HG01099.hp2 HG01169.hp1 HG01891.hp1 HG02055.hp2 HG02280.hp1 HG02451.hp1 HG02572.hp1 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp2 HG03486.hp1 HG03486.hp2 HG03669.hp1 HG06807.hp2 NA18906.hp1 NA19240.hp1 NA20129.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0013	a0001c0001 a0002c0002 a0004c0003 others(2): Show a0001c0001 a0002c0002 a0004c0003 a0005c0005 a0013c0018	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(13): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0012 a0001c0001t0017 a0001c0001t0022 a0001c0001t0027 a0001c0001t0045 a0001c0001t0049 a0001c0001t0059 a0001c0001t0060 a0002c0002t0001 a0004c0003t0024 a0005c0005t0038 a0005c0005t0039 a0013c0018t0017	a0001c0001t0001g0017 a0001c0001t0001g0025 a0001c0001t0001g0152 others(23): Show a0001c0001t0001g0017 a0001c0001t0001g0025 a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0001g0263 a0001c0001t0003g0258 a0001c0001t0003g0259 a0001c0001t0003g0260 a0001c0001t0006g0262 a0001c0001t0012g0154 a0001c0001t0012g0254 a0001c0001t0017g0264 a0001c0001t0022g0222 a0001c0001t0027g0153 a0001c0001t0045g0252 a0001c0001t0049g0155 a0001c0001t0059g0016 a0001c0001t0060g0261 a0002c0002t0001g0091 a0002c0002t0001g0255 a0004c0003t0024g0029 a0005c0005t0038g0024 a0005c0005t0039g0250 a0013c0018t0017g0265	26	266	0.0977	-93	c.351 others(110): Show c.351+6019_351+6111delGTCTATTTGTCTATTTTCCATTTCATTA ATTTCCACTCTTCTTGTTTGTAATTTATTTCCTTCTACTTGCTCTAGTTT TAAATATTTTATTTT		AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr5	TogoVar
AIG1_chr6_143055889_143346058	143171413	TATATATA others(86): Show TATATATATAATATATATAATATATATATAATATATATATTTAATATATA TATTTAATATATATAATATATATTAAATATATAATATATATTTA	T T	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18984.hp2 NA19006.hp1 others(2): Show NA18943.hp1 NA18984.hp2 NA19006.hp1 NA19012.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0007 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0002t0001 a0001c0002t0003	a0001c0001t0001g0127 a0001c0001t0007g0084 a0001c0002t0001g0191 others(2): Show a0001c0001t0001g0127 a0001c0001t0007g0084 a0001c0002t0001g0191 a0001c0002t0003g0158 a0001c0002t0003g0190	5	201	0.0249	-93	c.399 others(110): Show c.399+6249_399+6341delATATATATATAATATATATATTTAATAT ATATATTTAATATATATAATATATATTAAATATATAATATATATTTAATA TATATAATATATATA		AIG1	ENSG00000146416.19	transcript	ENST00000357847.9	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr6	TogoVar
AMTN_chr4_70513569_70537743	70516295	AAAAAAAA others(86): Show AAAAAAAATATATATATATATATATATATACGTATATATATATATACGTA TATATATACATATATATGTATATATATACATGTATATATATACG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02818.hp1 HG03098.hp2 others(1): Show HG01884.hp2 HG02818.hp1 HG03098.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0029 a0001c0001t0001g0096 a0001c0001t0001g0006 a0001c0001t0001g0029 a0001c0001t0001g0096	4	456	0.0088	-93	c.-23 others(104): Show c.-2374_-2282delAAAAAAATATATATATATATATATATATACGTAT ATATATATATACGTATATATATACATATATATGTATATATATACATGTAT ATATATACG		AMTN	ENSG00000187689.10	transcript	ENST00000339336.9	protein_coding					2273		chr4	TogoVar
ANK2_chr4_113044653_113388736	113334553	AGTTAATA others(86): Show AGTTAATAGATTAATTAATCTATTACTAGAAAGTTAATAGATTAATTAAT CTATTACTAGAAAGTTAATAGATTAATTAATCTATTACTAGAAG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00738.hp2 HG01175.hp1 others(8): Show HG00642.hp1 HG00738.hp2 HG01175.hp1 HG01346.hp2 HG02965.hp1 HG03098.hp1 HG03471.hp1 HG03491.hp1 NA19074.hp1 NA20129.hp1 NA20300.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0007 a0002c0002 a0003c0006 others(1): Show a0001c0007 a0002c0002 a0003c0006 a0003c0031	a0001c0007t0001 a0002c0002t0001 a0003c0006t0002 others(1): Show a0001c0007t0001 a0002c0002t0001 a0003c0006t0002 a0003c0031t0001	a0001c0007t0001g0018 a0001c0007t0001g0021 a0001c0007t0001g0074 others(8): Show a0001c0007t0001g0018 a0001c0007t0001g0021 a0001c0007t0001g0074 a0002c0002t0001g0079 a0002c0002t0001g0112 a0002c0002t0001g0167 a0002c0002t0001g0168 a0003c0006t0002g0064 a0003c0006t0002g0129 a0003c0006t0002g0154 a0003c0031t0001g0103	11	176	0.0625	-93	c.338 others(112): Show c.3380-1200_3380-1108delGGTTAATAGATTAATTAATCTATTAC TAGAAAGTTAATAGATTAATTAATCTATTACTAGAAAGTTAATAGATTAA TTAATCTATTACTAGAA		ANK2	ENSG00000145362.21	transcript	ENST00000357077.9	protein_coding	29/45					INFO_REALIGN_3_PRIME	chr4	TogoVar
ANKRD33B_chr5_10559070_10662816	10638964	ACGGCGAT others(86): Show ACGGCGATGTTAGCGGGTGACGCGGAGTTGCGCGGCGATGTTAGGCGGTG ACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGAGTTGCG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01106.hp1 HG01175.hp2 others(1): Show HG00741.hp1 HG01106.hp1 HG01175.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0002 a0001c0001t0001 a0001c0004t0002	a0001c0001t0001g0054 a0001c0001t0001g0142 a0001c0001t0001g0300 others(1): Show a0001c0001t0001g0054 a0001c0001t0001g0142 a0001c0001t0001g0300 a0001c0004t0002g0144	4	304	0.0132	-93	c.637 others(109): Show c.637+914_637+1006delAGTTGCGCGGCGATGTTAGGCGGTGACGC GGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGAGTTGCGCGGCGATGTT AGCGGGTGACGCGG		ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr5	TogoVar
ANKRD33B_chr5_10559070_10662816	10639172	CGGCGTTG others(86): Show CGGCGTTGCGCGGCGATGTTAGGCGGTGACGTGGAGTTGCGCGGCGATGT TAGCGGGTGACGTGGGGTTGCGCGGCGATGTTAGGCGGTGACGT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0014 a0001c0004t0014	a0001c0004t0014g0111 a0001c0004t0014g0111	1	302	0.0033	-93	c.637 others(110): Show c.637+1007_637+1099delCGTTGCGCGGCGATGTTAGGCGGTGACG TGGAGTTGCGCGGCGATGTTAGCGGGTGACGTGGGGTTGCGCGGCGATGT TAGGCGGTGACGTGG		ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr5	TogoVar
ANKRD33B_chr5_10559070_10662816	10639327	TGGGGTTG others(86): Show TGGGGTTGCGCGGCGATGTTAGGCGGTGACGCGGAGTTGCGCGGCGATGT TAGCGGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGC	T T	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02071.hp2 HG02132.hp1 others(9): Show HG02015.hp1 HG02071.hp2 HG02132.hp1 NA18612.hp2 NA18949.hp1 NA18957.hp1 NA18967.hp2 NA18986.hp1 NA18998.hp1 NA19009.hp2 NA19064.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0005 a0001c0001t0031 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0031 a0001c0001t0045 a0001c0006t0003	a0001c0001t0001g0244 a0001c0001t0001g0258 a0001c0001t0005g0050 others(9): Show a0001c0001t0001g0244 a0001c0001t0001g0258 a0001c0001t0005g0050 a0001c0001t0005g0052 a0001c0001t0005g0182 a0001c0001t0005g0229 a0001c0001t0005g0235 a0001c0001t0005g0241 a0001c0001t0005g0252 a0001c0001t0031g0317 a0001c0001t0045g0051 a0001c0006t0003g0132	12	260	0.0462	-93	c.637 others(110): Show c.637+1255_637+1347delGGTTGCGCGGCGATGTTAGGCGGTGACG CGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGAGTTGCGCGGCGATGT TAGCGGGTGACGCGG		ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr5	TogoVar
ANKRD33B_chr5_10559070_10662816	10639482	CGGAGTTG others(86): Show CGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGCGTTGCGCGGCGATGT TAGGCGGTGACGTGGAGTTGCGCGGCGATGTTAGGCGGTGACGT	C C	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	317	0.0032	-93	c.637 others(110): Show c.637+1348_637+1440delCGTTGCGCGGCGATGTTAGGCGGTGACG TGGAGTTGCGCGGCGATGTTAGGCGGTGACGTGGAGTTGCGCGGCGATGT TAGCGGGTGACGCGG		ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr5	TogoVar
ANKRD33B_chr5_10559070_10662816	10639544	TGGAGTTG others(86): Show TGGAGTTGCGCGGCGATGTTAGGCGGTGACGTGGAGTTGCGCGGCGATGT TAGCGGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGC	T T	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0034 a0001c0001t0009g0034	1	283	0.0035	-93	c.637 others(110): Show c.637+1398_637+1490delGCGGTGACGTGGAGTTGCGCGGCGATGT TAGCGGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGAGTT GCGCGGCGATGTTAG		ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr5	TogoVar
ANKRD33B_chr5_10559070_10662816	10639598	GGGTGACG others(86): Show GGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGAGTTGCGC GGCGATGTTAGCGGGTGACGTGGGGTTGCGCGGCGATGTTAGGC	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02451.hp2 HG02723.hp1 others(2): Show HG02055.hp1 HG02451.hp2 HG02723.hp1 NA18974.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0001 a0001c0001t0051 a0001c0015t0001 others(1): Show a0001c0001t0001 a0001c0001t0051 a0001c0015t0001 a0001c0015t0004	a0001c0001t0001g0131 a0001c0001t0051g0315 a0001c0015t0001g0243 others(2): Show a0001c0001t0001g0131 a0001c0001t0051g0315 a0001c0015t0001g0243 a0001c0015t0004g0104 a0001c0015t0004g0105	5	264	0.0189	-93	c.637 others(110): Show c.637+1593_637+1685delTGGGGTTGCGCGGCGATGTTAGGCGGTG ACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGAGTTGCGCGGCGA TGTTAGCGGGTGACG		ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr5	TogoVar
ANKRD33B_chr5_10559070_10662816	10639877	CGGTGACG others(86): Show CGGTGACGTGGAGTTGTGCGGCGATGTTAGCGGGTGACGTGGGGTTGCGC GGCGATGTTAGGCGGTGACGTGGAGTTGCGCGGTGATGTTAGCG	C C	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01175.hp1 others(10): Show HG01070.hp2 HG01071.hp1 HG01175.hp1 HG01952.hp1 HG01952.hp2 HG01981.hp2 HG02155.hp2 HG03669.hp2 HG03831.hp1 HG03942.hp1 NA18947.hp2 NA18964.hp1 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0007 a0001c0001 a0001c0004 a0001c0007	a0001c0001t0001 a0001c0001t0005 a0001c0001t0025 others(4): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0025 a0001c0001t0068 a0001c0004t0002 a0001c0007t0001 a0001c0007t0005	a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0066 others(10): Show a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0203 a0001c0001t0001g0211 a0001c0001t0001g0257 a0001c0001t0005g0229 a0001c0001t0025g0319 a0001c0001t0025g0320 a0001c0001t0068g0204 a0001c0004t0002g0123 a0001c0007t0001g0192 a0001c0007t0005g0179	13	316	0.0411	-93	c.637 others(110): Show c.637+1717_637+1809delTGGAGTTGTGCGGCGATGTTAGCGGGTG ACGTGGGGTTGCGCGGCGATGTTAGGCGGTGACGTGGAGTTGCGCGGTGA TGTTAGCGGGTGACG		ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr5	TogoVar
ANKRD33B_chr5_10559070_10662816	10639885	TGGAGTTG others(86): Show TGGAGTTGTGCGGCGATGTTAGCGGGTGACGTGGGGTTGCGCGGCGATGT TAGGCGGTGACGTGGAGTTGCGCGGTGATGTTAGCGGGTGACGC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0033 a0001c0001t0054g0033	1	307	0.0033	-93	c.637 others(110): Show c.637+1725_637+1817delTGCGGCGATGTTAGCGGGTGACGTGGGG TTGCGCGGCGATGTTAGGCGGTGACGTGGAGTTGCGCGGTGATGTTAGCG GGTGACGCGGAGTTG		ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr5	TogoVar
ANTXRL_chr10_46281997_46335129	46295500	GTTAGAGT others(86): Show GTTAGAGTTAGGAATGTCAACCCCATTGTCAGTGGCTGACTCTCAGTTGC CCATCCCTGGTTCAGGGTTAAAGTTAGGGTTTGGGTTAGAGTTA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00639.hp1 HG00642.hp1 others(92): Show HG00280.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01168.hp2 HG01169.hp2 HG01255.hp1 HG01256.hp2 HG01258.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01934.hp1 HG01952.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02135.hp2 HG02257.hp2 HG02258.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02602.hp2 HG02683.hp1 HG02698.hp1 HG02735.hp2 HG02922.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG03927.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18940.hp2 NA18942.hp2 NA18949.hp1 NA18952.hp2 NA18979.hp1 NA18980.hp1 NA18990.hp1 NA18999.hp1 NA19010.hp2 NA19030.hp1 NA19043.hp2 NA19082.hp2 NA19084.hp2 NA19240.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1	a0002 a0007 a0008 others(7): Show a0002 a0007 a0008 a0011 a0014 a0018 a0020 a0021 a0022 a0024	a0002c0004 a0002c0005 a0002c0009 others(12): Show a0002c0004 a0002c0005 a0002c0009 a0002c0012 a0002c0021 a0002c0032 a0007c0016 a0008c0017 a0011c0019 a0014c0028 a0018c0031 a0020c0030 a0021c0029 a0022c0033 a0024c0034	a0002c0004t0001 a0002c0005t0001 a0002c0009t0001 others(13): Show a0002c0004t0001 a0002c0005t0001 a0002c0009t0001 a0002c0009t0006 a0002c0012t0001 a0002c0021t0001 a0002c0032t0001 a0007c0016t0001 a0008c0017t0003 a0011c0019t0002 a0014c0028t0001 a0018c0031t0003 a0020c0030t0001 a0021c0029t0001 a0022c0033t0001 a0024c0034t0001	a0002c0004t0001g0001 a0002c0004t0001g0013 a0002c0004t0001g0024 others(81): Show a0002c0004t0001g0001 a0002c0004t0001g0013 a0002c0004t0001g0024 a0002c0004t0001g0027 a0002c0004t0001g0065 a0002c0004t0001g0104 a0002c0004t0001g0105 a0002c0004t0001g0106 a0002c0004t0001g0112 a0002c0004t0001g0128 a0002c0004t0001g0138 a0002c0004t0001g0139 a0002c0004t0001g0140 a0002c0004t0001g0143 a0002c0004t0001g0156 a0002c0004t0001g0157 a0002c0004t0001g0158 a0002c0004t0001g0159 a0002c0004t0001g0160 a0002c0004t0001g0162 a0002c0004t0001g0164 a0002c0004t0001g0173 a0002c0004t0001g0174 a0002c0004t0001g0178 a0002c0004t0001g0197 a0002c0004t0001g0208 a0002c0004t0001g0290 a0002c0004t0001g0291 a0002c0005t0001g0001 a0002c0005t0001g0003 a0002c0005t0001g0025 a0002c0005t0001g0064 a0002c0005t0001g0066 a0002c0005t0001g0133 a0002c0005t0001g0136 a0002c0005t0001g0137 a0002c0005t0001g0145 a0002c0005t0001g0146 a0002c0005t0001g0147 a0002c0005t0001g0148 a0002c0005t0001g0151 a0002c0005t0001g0152 a0002c0005t0001g0153 a0002c0005t0001g0154 a0002c0005t0001g0163 a0002c0005t0001g0167 a0002c0005t0001g0169 a0002c0005t0001g0171 a0002c0005t0001g0176 a0002c0005t0001g0209 a0002c0005t0001g0295 a0002c0009t0001g0003 a0002c0009t0001g0037 a0002c0009t0001g0134 a0002c0009t0001g0135 a0002c0009t0001g0150 a0002c0009t0001g0161 a0002c0009t0001g0172 a0002c0009t0006g0142 a0002c0012t0001g0107 a0002c0012t0001g0144 a0002c0012t0001g0168 a0002c0012t0001g0170 a0002c0012t0001g0175 a0002c0012t0001g0177 a0002c0012t0001g0179 a0002c0021t0001g0155 a0002c0021t0001g0194 a0002c0032t0001g0132 a0007c0016t0001g0129 a0007c0016t0001g0130 a0007c0016t0001g0131 a0007c0016t0001g0165 a0008c0017t0003g0101 a0008c0017t0003g0102 a0008c0017t0003g0103 a0011c0019t0002g0042 a0011c0019t0002g0043 a0014c0028t0001g0149 a0018c0031t0003g0287 a0020c0030t0001g0289 a0021c0029t0001g0296 a0022c0033t0001g0141 a0024c0034t0001g0292	95	368	0.2582	-93	c.393 others(108): Show c.393-518_393-426delTTAGAGTTAGGAATGTCAACCCCATTGTCA GTGGCTGACTCTCAGTTGCCCATCCCTGGTTCAGGGTTAAAGTTAGGGTT TGGGTTAGAGTTA		ANTXRL	ENSG00000274209.6	transcript	ENST00000620264.5	protein_coding	3/16						chr10	TogoVar
ARHGAP21_chr10_24578614_24728887	24656845	GGGTCGGC others(86): Show GGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02922.hp1 HG00140.hp2 HG02922.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0139 a0002c0002t0001g0279 a0002c0002t0001g0139 a0002c0002t0001g0279	2	350	0.0057	-93	c.268 others(112): Show c.268+10047_268+10139delACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACC		ARHGAP21	ENSG00000107863.20	transcript	ENST00000396432.7	protein_coding	4/25						chr10	TogoVar
ARHGEF10_chr8_1818926_1963641	1828545	TGTTTTAA others(86): Show TGTTTTAAGGAATTACATTTTGATAAACTGTGGCATGCACACTTCCTGTT TTAAGGAATTACATTTTGATAAACCGTGGCATGCACACTTAACG	T T	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0008 a0008	a0008c0138 a0008c0138	a0008c0138t0018 a0008c0138t0018	a0008c0138t0018g0346 a0008c0138t0018g0346	1	362	0.0028	-93	c.-48 others(110): Show c.-48+4460_-48+4552delTGTGGCATGCACACTTCCTGTTTTAAGG AATTACATTTTGATAAACCGTGGCATGCACACTTAACGGTTTTAAGGAAT TACATTTTGATAAAC		ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28					INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1828625	ATGCACAC others(86): Show ATGCACACTTAACGGTTTTAAGGAATTACATTTTGATAAACCGTGGCATG CACACTTACTGTTTTAAGGAATTACATTTTGATAAACCGTGGCG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0045 a0001c0045	a0001c0045t0012 a0001c0045t0012	a0001c0045t0012g0181 a0001c0045t0012g0181	1	205	0.0049	-93	c.-48 others(110): Show c.-48+4605_-48+4697delGTGCACACTTAACGGTTTTAAGGAATTA CATTTTGATAAACCGTGGCATGCACACTTACTGTTTTAAGGAATTACATT TTGATAAACCGTGGC		ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28					INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1851106	GTCATTAC others(86): Show GTCATTACACGCCTGTCCAAACCCATAGAAGGCACAGCACCAGGAGCGAG GCCTCACGCACACCGTGGGCTTTAGTTAGCGACGTACCTCAACA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01070.hp2 HG01081.hp1 others(9): Show HG00140.hp2 HG01070.hp2 HG01081.hp1 HG01169.hp2 HG01361.hp2 HG02280.hp1 HG02735.hp1 HG02818.hp1 HG03239.hp2 HG03942.hp1 HG03942.hp2 NA20905.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0001c0007 a0001c0009 others(5): Show a0001c0003 a0001c0007 a0001c0009 a0002c0017 a0002c0024 a0002c0128 a0003c0044 a0003c0064	a0001c0003t0001 a0001c0007t0008 a0001c0009t0002 others(6): Show a0001c0003t0001 a0001c0007t0008 a0001c0009t0002 a0002c0017t0002 a0002c0017t0005 a0002c0024t0001 a0002c0128t0001 a0003c0044t0002 a0003c0064t0060	a0001c0003t0001g0062 a0001c0003t0001g0284 a0001c0007t0008g0362 others(9): Show a0001c0003t0001g0062 a0001c0003t0001g0284 a0001c0007t0008g0362 a0001c0009t0002g0060 a0002c0017t0002g0043 a0002c0017t0002g0044 a0002c0017t0002g0059 a0002c0017t0005g0145 a0002c0024t0001g0058 a0002c0128t0001g0061 a0003c0044t0002g0328 a0003c0064t0060g0269	12	346	0.0347	-93	c.38- others(108): Show c.38-6763_38-6671delACATCATTACACGCCTGTCCAAACCCATAG AAGGCACAGCACCAGGAGCGAGGCCTCACGCACACCGTGGGCTTTAGTTA GCGACGTACCTCA		ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	2/28					INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1889400	ATCTGTGA others(86): Show ATCTGTGAGGAGACACTGAGTGGGGTGAGGGGTCTGTGAGGAGACACTGA GTGGGGTGAGGGGTCTGTGAGGAGACACTGAGTGGGGTGAGGGG	A A	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0058 a0001c0003t0058	a0001c0003t0058g0338 a0001c0003t0058g0338	1	350	0.0029	-93	c.118 others(112): Show c.1182+3726_1182+3818delCTGTGAGGAGACACTGAGTGGGGTGA GGGGTCTGTGAGGAGACACTGAGTGGGGTGAGGGGTCTGTGAGGAGACAC TGAGTGGGGTGAGGGGT		ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	11/28					INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF18_chr19_7343937_7477478	7362002	AAGAAGAA others(86): Show AAGAAGAAGAAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAA GGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG	A A	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0021 a0021	a0021c0030 a0021c0030	a0021c0030t0006 a0021c0030t0006	a0021c0030t0006g0255 a0021c0030t0006g0255	1	290	0.0034	-93	c.-11 others(110): Show c.-110-773_-110-681delAAGAAGAAGGAGAAGGAGAAGGAGAAGG AGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAG AAGGAGAAGGAGAAG		ARHGEF18	ENSG00000104880.19	transcript	ENST00000668164.2	protein_coding	1/28					INFO_REALIGN_3_PRIME	chr19	TogoVar
ARHGEF18_chr19_7343937_7477478	7362008	AAGAAGAA others(86): Show AAGAAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAA GGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG	A A	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0264 a0002c0004t0004g0264	1	286	0.0035	-93	c.-11 others(110): Show c.-110-767_-110-675delAAGGAGAAGGAGAAGGAGAAGGAGAAGG AGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAG AAGGAGAAGGAGAAG		ARHGEF18	ENSG00000104880.19	transcript	ENST00000668164.2	protein_coding	1/28					INFO_REALIGN_3_PRIME	chr19	TogoVar
ARHGEF18_chr19_7343937_7477478	7362095	GAGAAGGA others(86): Show GAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGA GAAGGAGAAGGAGGAGAAGAAGGAGAAGAAGGAGAAGAAGGAGA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02572.hp2 HG03540.hp2 HG02109.hp1 HG02572.hp2 HG03540.hp2	a0002 a0024 a0002 a0024	a0002c0007 a0024c0037 a0002c0007 a0024c0037	a0002c0007t0001 a0024c0037t0001 a0002c0007t0001 a0024c0037t0001	a0002c0007t0001g0019 a0002c0007t0001g0021 a0024c0037t0001g0020 a0002c0007t0001g0019 a0002c0007t0001g0021 a0024c0037t0001g0020	3	248	0.0121	-93	c.-11 others(110): Show c.-110-674_-110-582delGAGAAGGAGAAGGAGAAGGAGAAGGAGA AGGAGAAGGAGAAGGAGAAGGAGGAGAAGAAGGAGAAGAAGGAGAAGAAG GAGAAGAAGGAGAAG		ARHGEF18	ENSG00000104880.19	transcript	ENST00000668164.2	protein_coding	1/28					INFO_REALIGN_3_PRIME	chr19	TogoVar
ARID4B_chr1_235161902_235333179	235294405	CGGGTTCA others(86): Show CGGGTTCAAGCAATTCTCCCGCTTGAACCCAGGGGTTCAAGCAATTCTCC CGCTTGAACCCAGGGGTTCAAGCAATTCTCCCGCTTGAACCCAG	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02622.hp2 HG02630.hp2 others(4): Show HG01243.hp1 HG02622.hp2 HG02630.hp2 HG02723.hp2 HG02886.hp1 HG02970.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 others(4): Show a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0002t0001g0005	7	105	0.0667	-93	c.6+3 others(108): Show c.6+32416_6+32508delCTGGGTTCAAGCGGGAGAATTGCTTGAACC CCTGGGTTCAAGCGGGAGAATTGCTTGAACCCCTGGGTTCAAGCGGGAGA ATTGCTTGAACCC		ARID4B	ENSG00000054267.22	transcript	ENST00000264183.9	protein_coding	2/23						chr1	TogoVar
ASMT_chrX_1610059_1648081	1624472	CCCCAGGC others(86): Show CCCCAGGCAGATGCTGGGAGGTGGTGGCTGACCCCAGGCAGATGCTGGGA GGTGGGGGCTGACCCCAGGCAGATGCTGGGAGGTGGGGGCTGCA	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02280.hp1 HG02818.hp2 others(2): Show HG00741.hp2 HG02280.hp1 HG02818.hp2 HG03195.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0001c0001t0001 a0001c0001t0003 a0002c0002t0001	a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0021 others(2): Show a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0003g0089 a0002c0002t0001g0020	5	221	0.0226	-93	c.374 others(107): Show c.374+98_374+190delTGGCTGACCCCAGGCAGATGCTGGGAGGTGG GGGCTGACCCCAGGCAGATGCTGGGAGGTGGGGGCTGCACCCAGGCAGAT GCTGGGAGGTGG		ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	3/8					INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1624598	CCAGGCAG others(86): Show CCAGGCAGATGCTGGGAGGTGGTGGCTGCACCCAGGCAGATGCTGGGAGG TGGGGGCTGCCCCCAGGCAGATGCTGGGAGGTGGTGGCTGACCA	C C	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01346.hp2 HG02004.hp1 others(9): Show HG01175.hp1 HG01346.hp2 HG02004.hp1 HG02273.hp1 HG02523.hp1 HG02602.hp2 HG03704.hp1 NA18947.hp2 NA18950.hp1 NA18974.hp1 NA18980.hp2 NA19081.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0003t0001 a0002c0002t0001	a0001c0001t0001g0005 a0001c0001t0001g0069 a0001c0001t0001g0080 others(9): Show a0001c0001t0001g0005 a0001c0001t0001g0069 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0002g0151 a0001c0001t0002g0163 a0001c0001t0005g0164 a0001c0003t0001g0023 a0001c0003t0001g0110 a0002c0002t0001g0031 a0002c0002t0001g0054 a0002c0002t0001g0081	12	220	0.0545	-93	c.374 others(108): Show c.374+222_374+314delTGGCTGCACCCAGGCAGATGCTGGGAGGTG GGGGCTGCCCCCAGGCAGATGCTGGGAGGTGGTGGCTGACCACAGGCAGA TGCTGGGAGGTGG		ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	3/8					INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP11A_chr13_112685038_112892168	112749688	TCTGCTGA others(86): Show TCTGCTGAAGGATGCGGGGTTGAATCCCCTTCAGCCTCTCGTGAATTTCT GTCTTAGGGAAGGAGAATCTCCATCCTCCCACGTGGGGACACGC	T T	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02976.hp1 HG03225.hp2 HG01261.hp1 HG02976.hp1 HG03225.hp2	a0001 a0008 a0001 a0008	a0001c0014 a0008c0023 a0001c0014 a0008c0023	a0001c0014t0003 a0001c0014t0045 a0008c0023t0002 a0001c0014t0003 a0001c0014t0045 a0008c0023t0002	a0001c0014t0003g0178 a0001c0014t0045g0056 a0008c0023t0002g0064 a0001c0014t0003g0178 a0001c0014t0045g0056 a0008c0023t0002g0064	3	252	0.0119	-93	c.40- others(110): Show c.40-35381_40-35289delATCTCCATCCTCCCACGTGGGGACACGC CTGCTGAAGGATGCGGGGTTGAATCCCCTTCAGCCTCTCGTGAATTTCTG TCTTAGGGAAGGAGA		ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
B3GNTL1_chr17_82937149_83056770	83003585	CACTCTCT others(86): Show CACTCTCTGCAGTCCGCGTGTGGGATTCCTGAGCCCACCCTCCCACTCTC TGCAGTCCGCGTGTGGGATTCCTGAGCTCGCCCTCCCACTCTCT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00609.hp1 HG00621.hp1 others(43): Show HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp2 HG00733.hp1 HG00735.hp1 HG01167.hp2 HG01169.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01891.hp1 HG01943.hp1 HG02055.hp2 HG02132.hp1 HG02273.hp1 HG02559.hp2 HG02572.hp1 HG02683.hp1 HG02698.hp1 HG02818.hp1 HG03130.hp1 HG03209.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18945.hp1 NA18947.hp2 NA18963.hp1 NA18964.hp1 NA18966.hp2 NA18973.hp2 NA18983.hp2 NA18986.hp2 NA19002.hp1 NA19007.hp1 NA19064.hp2 NA19070.hp1 NA19074.hp1 NA19081.hp2 NA19084.hp2 NA19088.hp1 NA20300.hp2 NA21309.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0003 a0001c0004 others(9): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0011 a0001c0013 a0001c0029 a0002c0005 a0002c0010 a0002c0022 a0006c0026	a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 others(21): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0037 a0001c0003t0014 a0001c0004t0001 a0001c0004t0002 a0001c0004t0010 a0001c0004t0026 a0001c0006t0001 a0001c0006t0006 a0001c0006t0008 a0001c0006t0010 a0001c0006t0023 a0001c0006t0033 a0001c0007t0005 a0001c0011t0030 a0001c0013t0012 a0001c0029t0001 a0002c0005t0003 a0002c0005t0007 a0002c0010t0007 a0002c0022t0003 a0006c0026t0006	a0001c0001t0004g0256 a0001c0001t0004g0258 a0001c0001t0006g0183 others(41): Show a0001c0001t0004g0256 a0001c0001t0004g0258 a0001c0001t0006g0183 a0001c0001t0009g0249 a0001c0001t0037g0257 a0001c0003t0014g0193 a0001c0004t0001g0022 a0001c0004t0001g0027 a0001c0004t0001g0029 a0001c0004t0001g0033 a0001c0004t0001g0034 a0001c0004t0001g0037 a0001c0004t0001g0038 a0001c0004t0001g0040 a0001c0004t0001g0042 a0001c0004t0001g0043 a0001c0004t0001g0044 a0001c0004t0001g0047 a0001c0004t0001g0049 a0001c0004t0002g0051 a0001c0004t0010g0035 a0001c0004t0026g0048 a0001c0006t0001g0023 a0001c0006t0006g0025 a0001c0006t0006g0039 a0001c0006t0008g0021 a0001c0006t0010g0011 a0001c0006t0023g0031 a0001c0006t0033g0046 a0001c0007t0005g0242 a0001c0011t0030g0144 a0001c0013t0012g0001 a0001c0013t0012g0014 a0001c0013t0012g0015 a0001c0029t0001g0142 a0002c0005t0003g0056 a0002c0005t0003g0163 a0002c0005t0003g0174 a0002c0005t0007g0260 a0002c0010t0007g0005 a0002c0010t0007g0209 a0002c0010t0007g0218 a0002c0022t0003g0030 a0006c0026t0006g0175	46	262	0.1756	-93	c.459 others(110): Show c.459+1437_459+1529delAGAGAGTGGGAGGGCGAGCTCAGGAATC CCACACGCGGACTGCAGAGAGTGGGAGGGTGGGCTCAGGAATCCCACACG CGGACTGCAGAGAGT		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12						chr17	TogoVar
BBS1_chr11_66505635_66538598	66537563	CGGTGGCT others(86): Show CGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAG ATCACGAGGTCAGTAGATCAAGACCATCCTGGCCGGCCAGGAGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG01243.hp1 HG02132.hp2 others(9): Show HG00642.hp2 HG01243.hp1 HG02132.hp2 HG02155.hp2 HG03225.hp1 NA18948.hp1 NA18970.hp2 NA18985.hp2 NA19055.hp1 NA19057.hp1 NA19082.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0002t0003 a0001c0003t0003	a0001c0001t0001g0003 a0001c0001t0001g0035 a0001c0001t0001g0163 others(9): Show a0001c0001t0001g0003 a0001c0001t0001g0035 a0001c0001t0001g0163 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0002g0022 a0001c0001t0002g0217 a0001c0001t0002g0250 a0001c0001t0002g0253 a0001c0001t0006g0001 a0001c0002t0003g0088 a0001c0003t0003g0061	12	384	0.0313	-93	c.55 others(104): Show c.5527_*5619delGGTGGCTCACACCTGTAATCCCAGCACTTTGGGA GGCCAAGGCGGGCAGATCACGAGGTCAGTAGATCAAGACCATCCTGGCCG GCCAGGAGT		BBS1	ENSG00000174483.20	transcript	ENST00000318312.12	protein_coding					3966		chr11	TogoVar
BMPR1B_chr4_94752955_95163448	94962422	TCTTATTC others(86): Show TCTTATTCTTTCTAGCAGTATGTTTGTACCCATTAATCAACATCTCTTAA TTTTTTCTCTCCGCTACCCTTGCTAGCTTCTGGTAACCATCATC	T T	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0134 a0001c0001t0052g0134	1	224	0.0045	-93	c.-11 others(114): Show c.-112-33615_-112-33523delTATTCTTTCTAGCAGTATGTTTGT ACCCATTAATCAACATCTCTTAATTTTTTCTCTCCGCTACCCTTGCTAGC TTCTGGTAACCATCATCCT		BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr4	TogoVar
BRSK2_chr11_1384934_1467689	1438090	TCCCCCAC others(86): Show TCCCCCACAGCTGGCACCAAAGGCCCCTGCGTCCCCCACAGCTGGCACCA AAGGCCCCTGCGTCCCCCACAGCTGGCACCAAAGGCCCCTGCGA	T T	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0002 a0002c0010t0002	a0002c0010t0002g0034 a0002c0010t0002g0034	1	357	0.0028	-93	c.187 others(107): Show c.187-185_187-93delTCCCCCACAGCTGGCACCAAAGGCCCCTGCG TCCCCCACAGCTGGCACCAAAGGCCCCTGCGACCCCCACAGCTGGCACCA AAGGCCCCTGCG		BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	2/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
BZW1_chr2_200806910_200832338	200826627	ACCTTGAA others(86): Show ACCTTGAATCAGAACCTCAGTTGTTAAAGGCTTAACTGCTTGTGGCAACT ACTATAGTGCTCTAGTGGGGACAGTGGTTAAAATCTGCAGAATC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(125): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00423.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp2 HG01981.hp1 HG02027.hp1 HG02055.hp2 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02698.hp2 HG02723.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03225.hp1 HG03486.hp1 HG03490.hp1 HG03516.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03927.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp1 HG04199.hp2 NA18747.hp1 NA18939.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18948.hp1 NA18954.hp2 NA18964.hp2 NA18966.hp2 NA18974.hp2 NA18978.hp1 NA18979.hp2 NA18983.hp2 NA19002.hp1 NA19005.hp1 NA19006.hp2 NA19010.hp1 NA19057.hp2 NA19059.hp1 NA19062.hp2 NA19065.hp2 NA19067.hp2 NA19068.hp1 NA19070.hp2 NA19079.hp2 NA19082.hp2 NA19086.hp1 NA19088.hp1 NA19091.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 others(20): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0021 a0001c0001t0025 a0001c0001t0026 a0001c0001t0033 a0001c0001t0037 a0001c0001t0055 a0001c0001t0056 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0097 a0001c0001t0104 a0001c0001t0119 a0001c0001t0122	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0035 others(40): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0035 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0069 a0001c0001t0004g0001 a0001c0001t0004g0005 a0001c0001t0010g0001 a0001c0001t0010g0005 a0001c0001t0011g0005 a0001c0001t0011g0012 a0001c0001t0011g0074 a0001c0001t0012g0005 a0001c0001t0012g0025 a0001c0001t0014g0005 a0001c0001t0015g0001 a0001c0001t0015g0026 a0001c0001t0015g0063 a0001c0001t0015g0071 a0001c0001t0021g0005 a0001c0001t0021g0054 a0001c0001t0025g0005 a0001c0001t0026g0001 a0001c0001t0026g0012 a0001c0001t0033g0001 a0001c0001t0033g0055 a0001c0001t0033g0061 a0001c0001t0037g0001 a0001c0001t0037g0062 a0001c0001t0055g0070 a0001c0001t0056g0005 a0001c0001t0066g0001 a0001c0001t0067g0012 a0001c0001t0068g0001 a0001c0001t0069g0005 a0001c0001t0070g0001 a0001c0001t0097g0001 a0001c0001t0104g0005 a0001c0001t0119g0001 a0001c0001t0122g0001	128	386	0.3316	-93	c.44 others(104): Show c.4455_*4547delAATCAGAACCTCAGTTGTTAAAGGCTTAACTGCT TGTGGCAACTACTATAGTGCTCTAGTGGGGACAGTGGTTAAAATCTGCAG AATCCCTTG		BZW1	ENSG00000082153.18	transcript	ENST00000409600.6	protein_coding	12/12				4455	INFO_REALIGN_3_PRIME	chr2	TogoVar
C22orf42_chr22_32144006_32164303	32147777	TGTACTCT others(86): Show TGTACTCTGTCCCTTTATTTCTCAAGCCAGCTGACGCTTAGGAAAAATAG AAAAGAATCTACGTGATTATCAGGGCAGGTCCCCCAATAATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0057 a0003c0003t0002g0057	1	396	0.0025	-93	c.16 others(104): Show c.1670_*1762delTATATTATTGGGGGACCTGCCCTGATAATCACGT AGATTCTTTTCTATTTTTCCTAAGCGTCAGCTGGCTTGAGAAATAAAGGG ACAGAGTAC		C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding					1228		chr22	TogoVar
C2CD4C_chr19_400445_414147	404933	GGGAACGG others(86): Show GGGAACGGGGTCCTGCCCTGAGGGGTGTGGGGGGAACGGGGTCCTGCCCT GAGGGGTGTGGAGGGGGGATGGGGTCCTGCCCTGAGGGGTGTGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 NA19064.hp1 HG03130.hp1 NA19064.hp1	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0003 a0001c0007t0038 a0001c0002t0003 a0001c0007t0038	a0001c0002t0003g0002 a0001c0007t0038g0171 a0001c0002t0003g0002 a0001c0007t0038g0171	2	315	0.0063	-93	c.20 others(104): Show c.2070_*2162delTCACACCCCTCAGGGCAGGACCCCATCCCCCCTC CACACCCCTCAGGGCAGGACCCCGTTCCCCCCACACCCCTCAGGGCAGGA CCCCGTTCC		C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding					511		chr19	TogoVar
C6orf52_chr6_10666422_10699616	10698218	CAGCAATA others(86): Show CAGCAATATCTGACTTTATTGAGGGCATATTATGTACCCCTCTGTGTGCC AAGAAAGTAGAAGAGAACACCTAGTTTCAAAGATGTAGCGTCAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp2 NA19057.hp1 HG02132.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0001 a0001c0001t0001g0014	2	282	0.0071	-93	c.-38 others(104): Show c.-3829_-3737delATGACGCTACATCTTTGAAACTAGGTGTTCTCTT CTACTTTCTTGGCACACAGAGGGGTACATAATATGCCCTCAATAAAGTCA GATATTGCT		C6orf52	ENSG00000137434.12	transcript	ENST00000259983.8	protein_coding					3603		chr6	TogoVar
C8orf90_chr8_141509671_141523729	141516173	TCCTGCAT others(86): Show TCCTGCATCATGATACCGCTCTTTCCCAGGTCGTTCCCACTGGCATGAAA GCATGCTGCGATTTATCCTGTCTCTTGACCCCACTTCCCTTCCG	T T	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0042 a0007c0009t0001g0042	1	448	0.0022	-93	c.79+ others(108): Show c.79+1399_79+1491delCCTGCATCATGATACCGCTCTTTCCCAGGT CGTTCCCACTGGCATGAAAGCATGCTGCGATTTATCCTGTCTCTTGACCC CACTTCCCTTCCG		C8orf90	ENSG00000226490.2	transcript	ENST00000643770.2	protein_coding	1/1						chr8	TogoVar
CAB39L_chr13_49303650_49449064	49318494	AAGGGAAA others(86): Show AAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAA GGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03540.hp1 HG01243.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0206 a0001c0001t0004g0295 a0001c0001t0004g0206 a0001c0001t0004g0295	2	308	0.0065	-93	c.835 others(110): Show c.835-7594_835-7502delCCTTTCCCTTTCCCTTTCCCTTTCCCTT TCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTC CCTTTCCCTTTCCCT		CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	10/10						chr13	TogoVar
CAB39L_chr13_49303650_49449064	49318532	GGGAAAGG others(86): Show GGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGG GAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGA	G G	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02109.hp2 HG02132.hp2 others(3): Show HG02083.hp1 HG02109.hp2 HG02132.hp2 NA18946.hp2 NA18948.hp1 NA19085.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0002 a0001c0001t0012 a0001c0002t0002 others(2): Show a0001c0001t0002 a0001c0001t0012 a0001c0002t0002 a0001c0002t0019 a0002c0003t0002	a0001c0001t0002g0274 a0001c0001t0012g0264 a0001c0002t0002g0148 others(3): Show a0001c0001t0002g0274 a0001c0001t0012g0264 a0001c0002t0002g0148 a0001c0002t0002g0290 a0001c0002t0019g0038 a0002c0003t0002g0244	6	318	0.0189	-93	c.835 others(110): Show c.835-7632_835-7540delTCCCTTTCCCTTTCCCTTTCCCTTTCCC TTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTT TCCCTTTCCCTTTCC		CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	10/10						chr13	TogoVar
CABLES2_chr20_62383634_62412285	62398231	ACGGTGGT others(86): Show ACGGTGGTGATGATGGTGATGGTGGTGGTGATGGTGATGGCGGTGGTGGT GGTGGTGATGGTGGCGATGGTGATGACGGTGGTGATGGCAGTGG	A A	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA19007.hp1 NA18980.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0209 a0001c0001t0001g0103 a0001c0001t0001g0209	2	398	0.0050	-93	c.363 others(110): Show c.363-1732_363-1640delCCACTGCCATCACCACCGTCATCACCAT CGCCACCATCACCACCACCACCACCGCCATCACCATCACCACCACCATCA CCATCATCACCACCG		CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	1/9						chr20	TogoVar
CACNA1B_chr9_137872782_138129619	137886682	GGGTGGAC others(86): Show GGGTGGACGGATGACCAGAGAGCAGTCGGCGGGTGGACGGATGAGTGGAT GGTGATGAGTTGCGGCATGGGCGTGCCCCAGAGAGCAGTCGGCA	G G	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19060.hp2 NA19079.hp2 NA19056.hp2 NA19060.hp2 NA19079.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0017 a0001c0019t0025 a0001c0019t0017 a0001c0019t0025	a0001c0019t0017g0124 a0001c0019t0017g0125 a0001c0019t0025g0126 a0001c0019t0017g0124 a0001c0019t0017g0125 a0001c0019t0025g0126	3	246	0.0122	-93	c.530 others(110): Show c.530+3813_530+3905delCCAGAGAGCAGTCGGCGGGTGGACGGAT GAGTGGATGGTGATGAGTTGCGGCATGGGCGTGCCCCAGAGAGCAGTCGG CAGGTGGACGGATGA		CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	3/46					INFO_REALIGN_3_PRIME	chr9	TogoVar
CAMK2B_chr7_44212154_44330594	44227012	GTGTGGGG others(86): Show GTGTGGGGGACAGAGGGGGGTGTGGAAGACAGAGGGGGTGTGGGGGACAG AAGGGGTCATGGGGGATGGGGGTGCGTGAGGGGACCAAGGTGGA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03139.hp1 HG06807.hp2 HG02257.hp2 HG03139.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0002 a0001c0001t0002 a0001c0003t0002	a0001c0001t0002g0116 a0001c0003t0002g0037 a0001c0003t0002g0139 a0001c0001t0002g0116 a0001c0003t0002g0037 a0001c0003t0002g0139	3	238	0.0126	-93	c.146 others(110): Show c.1469-461_1469-369delTCCACCTTGGTCCCCTCACGCACCCCCA TCCCCCATGACCCCTTCTGTCCCCCACACCCCCTCTGTCTTCCACACCCC CCTCTGTCCCCCACA		CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23						chr7	TogoVar
CDC73_chr1_193117031_193259815	193161981	TATTATAT others(86): Show TATTATATTGTATATAATATATATCATATTATATTGTATATAATATATAT CATATTATATTGTATATAATATATATCATATTATATTGTATATA	T T	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	272	0.0037	-93	c.972 others(110): Show c.972+9540_972+9632delTATATTGTATATAATATATATCATATTA TATTGTATATAATATATATCATATTATATTGTATATAATATATATCATAT TATATTGTATATAAT		CDC73	ENSG00000134371.14	transcript	ENST00000367435.5	protein_coding	10/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
CDH4_chr20_61247261_61945617	61289663	ATATCCAA others(86): Show ATATCCAACGAGACTTGCTGGGTTTATCCCCGTATCCAACGAGACTTGCT GGGTTTATCCCCGTATCCAACGAGACTTGCTGGGTTTATCCCCG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0008 a0001c0010t0008	a0001c0010t0008g0045 a0001c0010t0008g0045	1	93	0.0108	-93	c.169 others(112): Show c.169+35013_169+35105delCGAGACTTGCTGGGTTTATCCCCGTA TCCAACGAGACTTGCTGGGTTTATCCCCGTATCCAACGAGACTTGCTGGG TTTATCCCCGTATCCAA		CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15					INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61727213	GGAGCCAT others(86): Show GGAGCCATCATCACCATTGAAGCCATCACCATCAGTGCCATCATCATCAC CATCAGAGTCATCATCATCAACACTGGAGCCATCATCACCATCA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0003 a0002c0008t0003	a0002c0008t0003g0041 a0002c0008t0003g0041	1	106	0.0094	-93	c.170 others(112): Show c.170-16333_170-16241delTGAAGCCATCACCATCAGTGCCATCA TCATCACCATCAGAGTCATCATCATCAACACTGGAGCCATCATCACCATC AGAGCCATCATCACCAT		CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15					INFO_REALIGN_3_PRIME	chr20	TogoVar
CDHR5_chr11_611583_629955	618683	TTGGTTGG others(86): Show TTGGTTGGTGGGAGGTGCTGGTTCCCATACCGGGGGGCATCGGCTGAGAG GTTCCTGCCTCTGGGGTCTGTGCTGTGCCCCCACCGGGTGTGGC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02559.hp2 HG03471.hp1 NA18522.hp2 others(1): Show HG02559.hp2 HG03471.hp1 NA18522.hp2 NA19030.hp1	a0010 a0010	a0010c0017 a0010c0034 a0010c0017 a0010c0034	a0010c0017t0001 a0010c0034t0002 a0010c0017t0001 a0010c0034t0002	a0010c0017t0001g0045 a0010c0017t0001g0131 a0010c0034t0002g0068 a0010c0017t0001g0045 a0010c0017t0001g0131 a0010c0034t0002g0068	4	408	0.0098	-93	c.178 others(102): Show c.1783_1875delGCCACACCCGGTGGGGGCACAGCACAGACCCCAGAG GCAGGAACCTCTCAGCCGATGCCCCCCGGTATGGGAACCAGCACCTCCCA CCAACCA	p.Ala others(13): Show p.Ala595_Pro625del	CDHR5	ENSG00000099834.19	transcript	ENST00000397542.7	protein_coding	13/15	1928/3359	1783/2538	595/845			chr11	TogoVar
CDK12_chr17_39456486_39539544	39499133	TTCTTTCT others(86): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCCTTTTTTTTTTTTTTTTGA	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0080 a0001c0001t0002g0080	1	257	0.0039	-93	c.242 others(112): Show c.2420-2116_2420-2024delTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCT TTTTTTTTTTTTTTTGA		CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	5/13						chr17	TogoVar
CELF1_chr11_47460937_47558132	47541701	AGAAAGAA others(86): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAACGAAAGAAAGAACGAAAGAAAG AAAGAACGAAAGAAAGAACGAAAGAAAGAACGAAAGAAAGAACG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01167.hp1 HG01169.hp1 others(3): Show HG00642.hp2 HG01167.hp1 HG01169.hp1 NA18947.hp1 NA19056.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0110 a0001c0001t0002g0112 a0001c0001t0002g0115 others(3): Show a0001c0001t0002g0110 a0001c0001t0002g0112 a0001c0001t0002g0115 a0001c0001t0002g0223 a0001c0001t0002g0228 a0001c0001t0002g0232	6	334	0.0180	-93	c.-15 others(114): Show c.-154+11198_-154+11290delCGTTCTTTCTTTCGTTCTTTCTTT CGTTCTTTCTTTCGTTCTTTCTTTCTTTCGTTCTTTCTTTCGTTCTTTCT TTCTTTCTTTCTTTCTTTC		CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding	1/14						chr11	TogoVar
CFAP46_chr10_132803392_132947570	132821077	TGCTGTGT others(86): Show TGCTGTGTGTGCTGATGTGTGCTTTGTGTGTGCTGATGTGTGCTGTGTGT GTGCTGATGTGTGCTGTGTGAGTGCTGATGTGTGCTGTCTGTGC	T T	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0172 a0002c0002t0001g0172	1	244	0.0041	-93	c.711 others(112): Show c.7118-6256_7118-6164delGCACAGACAGCACACATCAGCACTCA CACAGCACACATCAGCACACACACAGCACACATCAGCACACACAAAGCAC ACATCAGCACACACAGC		CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57						chr10	TogoVar
CFAP46_chr10_132803392_132947570	132867153	ACAGGCCG others(86): Show ACAGGCCGGCCCCTCACACACTGACACACACACAGGCCGGCCCCTCACAC ACTGACACACACACAGGCCGGCCCCTCACACACTGACACACACC	A A	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0175 a0002c0003t0001g0175	1	244	0.0041	-93	c.474 others(110): Show c.4743+129_4743+221delGGTGTGTGTCAGTGTGTGAGGGGCCGGC CTGTGTGTGTGTCAGTGTGTGAGGGGCCGGCCTGTGTGTGTGTCAGTGTG TGAGGGGCCGGCCTG		CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	34/57						chr10	TogoVar
CHMP4A_chr14_24204615_24218488	24209057	GAAAGCTA others(86): Show GAAAGCTACTTGCTCCTTCCATTCCAAGTAGCAAAGCTACTTGCTCCTTC CATTCCAAGTAGCAAAGCTACTTGCTCCTTCCATTCCAAGTAGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02145.hp1 HG02976.hp2 others(3): Show HG01891.hp1 HG02145.hp1 HG02976.hp2 HG03579.hp2 NA18906.hp2 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0005 a0002c0002t0001g0039 a0002c0002t0001g0005 a0002c0002t0001g0039	6	106	0.0566	-93	c.72 others(102): Show c.727_*819delGCTACTTGGAATGGAAGGAGCAAGTAGCTTTGCTAC TTGGAATGGAAGGAGCAAGTAGCTTTGCTACTTGGAATGGAAGGAGCAAG TAGCTTT		CHMP4A	ENSG00000254505.11	transcript	ENST00000347519.12	protein_coding					557		chr14	TogoVar
CMIP_chr16_81439808_81716762	81517160	CCCAGACG others(86): Show CCCAGACGGCCTCCAAGGTCATCAGTGAAAAATCAGACAGCTTTCAAGGT CATCAGTGAAAAGCCAGACAGCCTCCAAGGTCGTCAGTGAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02615.hp2 HG03195.hp2 others(3): Show HG02109.hp1 HG02615.hp2 HG03195.hp2 HG03540.hp2 HG03579.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0014 others(3): Show a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0173 a0001c0001t0003g0172 a0001c0001t0004g0011	6	266	0.0226	-93	c.300 others(112): Show c.300+71662_300+71754delTCAAGGTCATCAGTGAAAAGCCAGAC AGCCTCCAAGGTCGTCAGTGAAAAACCAGACGGCCTCCAAGGTCATCAGT GAAAAATCAGACAGCTT		CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr16	TogoVar

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