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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PANX2_chr22_50165731_50185295	50166268	ATCCCAGC others(185): Show ATCCCAGCGTGGCCCACGTCTCCGATCCCAGCGTGGCTCAAGCCTGCAAT CCCAGCGTGGCTCAAGCCTGCAATCCCAGCGTGGCCCACGCCTGCAATCC CAGCGTGGCTCACGCCTGCAGTCCCAGCGTGGCCCACGCCTGCAGTCCCA GCGTGGCCCACGCCTGCAGTCCCAGCGTGGCCCACATCTCCAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0083 a0001c0002t0014g0083	1	438	0.0023	-192	c.-44 others(11): Show c.-4462_-4271del	PANX2	ENSG00000073150.14	transcript	ENST00000395842.3	protein_coding		4462		chr22	TogoVar
PARP6_chr15_72236181_72277554	72275860	AGTGTCAT others(185): Show AGTGTCATTTGGCATTGTCAATCATCTTGCCCCTGCAGTTGACTGCATGG TGTCATTTGGCATTGTCAATCATCTTGCCCCTGCAGTTGACTGCATGGTG TCATTTGGCATTGTCAATCATCTTGCCCCTGCAGTTGACTGCATGGTGTC ATTTGGCATTGTCAATCATCTTGCCCCTGCAGTTGACTGCATG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00408.hp1 others(191): Show HG00099.hp1 HG00099.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01257.hp1 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01952.hp2 HG01978.hp1 HG01981.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02273.hp1 HG02280.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18941.hp1 NA18942.hp2 NA18943.hp2 NA18945.hp2 NA18946.hp1 NA18947.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18956.hp2 NA18960.hp2 NA18961.hp1 NA18963.hp2 NA18967.hp1 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18975.hp1 NA18977.hp1 NA18979.hp2 NA18980.hp1 NA18983.hp2 NA18987.hp2 NA18988.hp2 NA18989.hp1 NA18990.hp1 NA18991.hp2 NA18993.hp2 NA18994.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19007.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19057.hp2 NA19058.hp2 NA19062.hp2 NA19064.hp1 NA19068.hp1 NA19074.hp2 NA19076.hp2 NA19077.hp2 NA19078.hp1 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19089.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0002t0001 a0001c0003t0004 a0002c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(100): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0150 a0001c0001t0001g0155 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0005g0052 a0001c0001t0007g0054 a0001c0001t0009g0061 a0001c0002t0001g0023 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0123 a0001c0003t0004g0049 a0002c0006t0001g0095	194	203	0.9557	-192	c.-41 others(11): Show c.-4119_-3928del	PARP6	ENSG00000137817.17	transcript	ENST00000569795.6	protein_coding		3307		chr15	TogoVar
PCBP3_chr21_45638725_45947450	45918639	GGGGAAGA others(185): Show GGGGAAGAAGTTACCCTCAGATAAACCGTCGGTGTAATTCCAGTGCTGGG GGAAGAAGTTACTCTCAGATAAACCGTCGGTGTAATTCCAGTGCTGGAGG AAGAAGTTACTCTCAGATAAACGGTCGGTGTAATTCCAGTGCTGGGGGAA GAAGTTACCCTCAGATAAACCATTGGTGTAATTCCAGTGCTGA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00642.hp1 HG00738.hp2 others(16): Show HG00544.hp2 HG00642.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01123.hp2 HG01192.hp1 HG01243.hp2 HG01358.hp1 HG01515.hp1 HG01517.hp2 HG01943.hp2 HG02004.hp1 HG02602.hp2 HG02698.hp2 HG03195.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0012 a0001c0001t0016 a0001c0001t0017 others(3): Show a0001c0001t0012 a0001c0001t0016 a0001c0001t0017 a0001c0002t0004 a0001c0002t0006 a0001c0002t0025	a0001c0001t0012g0031 a0001c0001t0012g0032 a0001c0001t0016g0011 others(16): Show a0001c0001t0012g0031 a0001c0001t0012g0032 a0001c0001t0016g0011 a0001c0001t0017g0098 a0001c0002t0004g0003 a0001c0002t0004g0004 a0001c0002t0004g0005 a0001c0002t0004g0006 a0001c0002t0004g0007 a0001c0002t0004g0072 a0001c0002t0004g0073 a0001c0002t0004g0074 a0001c0002t0004g0075 a0001c0002t0006g0010 a0001c0002t0006g0033 a0001c0002t0006g0077 a0001c0002t0006g0086 a0001c0002t0006g0104 a0001c0002t0025g0015	19	290	0.0655	-192	c.717 others(17): Show c.717+1037_717+1228del	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCYT1A_chr3_196229368_196292726	196271996	TTTTTTTT others(185): Show TTTTTTTTTTTTGAGAAAGAGTCTCACTCTGTCACCCTGGCTAGAGTGCA GTGGCACGATCTCGGCTCTCACAGCCATAATCATAGCACACTGTAGCCTC AAACTCCTGAGCTTAAGCAATCCTCCCATCTGAGCCTCCAGAATAGCTAG GACCAGCATAATGTATTTTTTAAATGTCCTTCTCCTTCTTTCC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02572.hp2 HG02622.hp1 others(3): Show HG02280.hp2 HG02572.hp2 HG02622.hp1 HG03041.hp1 HG03209.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0028 a0001c0001t0016 a0001c0001t0028	a0001c0001t0016g0277 a0001c0001t0016g0278 a0001c0001t0016g0279 others(3): Show a0001c0001t0016g0277 a0001c0001t0016g0278 a0001c0001t0016g0279 a0001c0001t0016g0280 a0001c0001t0028g0285 a0001c0001t0028g0286	6	308	0.0195	-192	c.-10 others(17): Show c.-10-1647_-10-1456del	PCYT1A	ENSG00000161217.12	transcript	ENST00000431016.6	protein_coding	1/8			chr3	TogoVar
PFKFB3_chr10_6197932_6240532	6206745	GCTCCTCA others(185): Show GCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGGTCCTCACATCC CAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCCAGACGGGGTG GCGGCCGGGCAGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGA GGGGCTCCTCACATCCCAGACGATGGGCGGCCAGGCAGAGACA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02717.hp1 HG02809.hp2 others(4): Show HG00438.hp1 HG02717.hp1 HG02809.hp2 HG02922.hp1 HG03195.hp2 HG04228.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 others(4): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0062 a0001c0001t0063 a0001c0002t0008 a0001c0004t0018	a0001c0001t0003g0232 a0001c0001t0004g0199 a0001c0001t0010g0301 others(4): Show a0001c0001t0003g0232 a0001c0001t0004g0199 a0001c0001t0010g0301 a0001c0001t0062g0052 a0001c0001t0063g0051 a0001c0002t0008g0040 a0001c0004t0018g0053	7	430	0.0163	-192	c.76+ others(15): Show c.76+3447_76+3638del	PFKFB3	ENSG00000170525.21	transcript	ENST00000379775.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
PPP2R2C_chr4_6315581_6477614	6336653	CTCCCTCC others(185): Show CTCCCTCCCTCCCTGCTTCCATCCCTCCCTCCCTCCCTGCTTCCATCCCT CCCTCCCTCCCTCCCTCCCTCCCTCCTTCCCTCCCTCCCTCCCTCCCTCC CTCCTTCCCTCCCTCCCTCCCTCCTTCCCTCCCTCCCTCCCTCCCTCCTT CCATCCCTCCCTCCCTCCCTCCTTCCCTCCCTCCCTCCCTGCT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0018	1	287	0.0035	-192	c.791 others(17): Show c.791-3114_791-2923del	PPP2R2C	ENSG00000074211.14	transcript	ENST00000382599.9	protein_coding	6/8			chr4	TogoVar
PPP2R3B_chrX_328933_391907	339858	CGGGGGGG others(185): Show CGGGGGGGGGTGAGAGGGGAGGAGCCGGGGGGGGGTGAGAGGGGAGGAGC TGGGGGGGGTGAGAGGGGAGGAGCCGGGGGGGTGAGAGGGGAGGAGCCGG GGGGGTGAGAGGGGAGGAGCCGGGGGGGTGAGAGGGGAGGAGATGGGGGG GGTGAGAGGGGAGGAGATGGGGGGGGTGAGAGGGGAGGAGATG	C C	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0001 a0003c0009t0001	a0003c0009t0001g0023 a0003c0009t0001g0023	1	14	0.0714	-192	c.135 others(17): Show c.1351+715_1351+906del	PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding	10/12			chrX	TogoVar
PRDM15_chr21_41793225_41884344	41855977	TCCTTCCC others(185): Show TCCTTCCCTCCCTCCCTCCCCTCCCTTCCTTCCTTTCCTTCCCTCCCTCC CTCCCCTCCCTTCCTTCCTTTCCTTCCTTCCCTCCCTCCCCTCCCTCCCT TCCTTCCCTCCCTCCCCTCCCTCCCTTCCTTTCCTTCCTTCCCTCCCTCC CCTCCCTCCCTTCCTTTCCTTCCTTCCCTCCCTCCCCTCCCTC	T T	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0010 a0001c0006t0010	a0001c0006t0010g0389 a0001c0006t0010g0389	1	399	0.0025	-192	c.285 others(17): Show c.285+1007_286-1160del	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	4/23			chr21	TogoVar
PRKAG2_chr7_151551127_151882115	151874261	TATGTATA others(185): Show TATGTATATGTATATGATATATATGTATATGTATATGATGTATATGTATA TGTATATGATGTATATGTATATGATGTATATGTATATGTATATGATGTAT ATGTATATGTATATGATGTATATGTATATGATGTATATGTATATGTATAT GATGTATATGTATATGTATATGATGTATATGTATATGTATATG	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00597.hp1 HG00621.hp2 others(28): Show HG00280.hp2 HG00597.hp1 HG00621.hp2 HG00738.hp1 HG00741.hp2 HG01074.hp2 HG01243.hp2 HG01257.hp2 HG01258.hp2 HG01496.hp1 HG01884.hp2 HG02280.hp2 HG02300.hp1 HG02572.hp1 HG02602.hp2 HG02735.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02970.hp1 HG03098.hp1 HG03139.hp2 HG03209.hp2 HG03239.hp1 HG03490.hp1 HG03654.hp1 NA19007.hp2 NA19043.hp2 NA19240.hp1 NA20752.hp2 NA20805.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0010 a0005c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 a0001c0001t0021 a0001c0002t0007 a0001c0003t0002 a0001c0010t0024 a0005c0012t0006	a0001c0001t0001g0149 a0001c0001t0001g0153 a0001c0001t0001g0156 others(28): Show a0001c0001t0001g0149 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0002g0145 a0001c0001t0002g0150 a0001c0001t0002g0155 a0001c0001t0002g0160 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0003g0161 a0001c0001t0006g0146 a0001c0001t0006g0158 a0001c0001t0006g0172 a0001c0001t0006g0173 a0001c0001t0010g0174 a0001c0001t0010g0175 a0001c0001t0021g0008 a0001c0002t0007g0159 a0001c0003t0002g0154 a0001c0010t0024g0152 a0005c0012t0006g0151	31	246	0.1260	-192	c.114 others(17): Show c.114+2054_114+2245del	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15			chr7	TogoVar
PRKCA_chr17_66297613_66815743	66798500	GTGGTGGT others(185): Show GTGGTGGTGACGGTGGTGACGGTGGTGGTGATGGTGGTGACGGTGGTGGT GGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGG TGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTG GTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGA	G G	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG02976.hp2 HG01515.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0054 a0001c0001t0017 a0001c0001t0054	a0001c0001t0017g0114 a0001c0001t0054g0106 a0001c0001t0017g0114 a0001c0001t0054g0106	2	148	0.0135	-192	c.185 others(19): Show c.1855-5367_1855-5176del	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCZ_chr1_2045411_2190395	2123361	GGTGGTTA others(185): Show GGTGGTTAGGGTTGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTCACGG TGGTGGTTAGGGTTGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTTGTG GTGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCGTGGCGGT GGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTT	G G	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02572.hp2 HG02965.hp1 others(4): Show HG01099.hp1 HG02572.hp2 HG02965.hp1 NA18612.hp2 NA18993.hp2 NA19070.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007	a0001c0001t0001 a0001c0001t0015 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0015 a0001c0002t0001 a0001c0004t0001 a0001c0007t0001	a0001c0001t0001g0174 a0001c0001t0001g0237 a0001c0001t0015g0014 others(4): Show a0001c0001t0001g0174 a0001c0001t0001g0237 a0001c0001t0015g0014 a0001c0002t0001g0207 a0001c0004t0001g0007 a0001c0004t0001g0008 a0001c0007t0001g0116	7	237	0.0295	-192	c.335 others(19): Show c.335-11895_335-11704del	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
RASA3_chr13_113972783_114137623	114029025	TGGAGGCC others(185): Show TGGAGGCCAGGACCTCTAAAACGGCATCATCCTGGGGCCAGGACCTCTAA AACGGCATCATCCTGGGGGCCAGGACCTCTAAAACGGCATCATCCTGGGG CCAGGACCTCTAAAACGACGTCATCCTGGGGGCCAGGACCTCTAAAACAG CTTCATCCTGGTGGGCCAGGACCTCTAAAACGGCGTCATCCTG	T T	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03540.hp1 HG03209.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0038 a0001c0001t0001g0039	2	66	0.0303	-192	c.449 others(15): Show c.449+594_449+785del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	5/23			chr13	TogoVar
RIMBP2_chr12_130391133_130721299	130646077	CCCTCACC others(185): Show CCCTCACCACTTCCCTCTCCACCTCCCTCTCCACCTCCCTCACCACCTGC CTCTCCACCTCCCTCACCACCTGCCTCTCCACCTCCCTCACCACCTGCCT CTCCACCTCCCTCACCACTTCCCTCTCCACCTCCCTCTCCACCTCCCTCA CCACCTGCCTCTCCACCTCCCTCACCACTTCCCTCTCCACCTG	C C	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0008	1	177	0.0056	-192	c.-35 others(21): Show c.-351-17813_-351-17622del	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130646094	TCCACCTC others(185): Show TCCACCTCCCTCTCCACCTCCCTCACCACCTGCCTCTCCACCTCCCTCAC CACCTGCCTCTCCACCTCCCTCACCACCTGCCTCTCCACCTCCCTCACCA CTTCCCTCTCCACCTCCCTCTCCACCTCCCTCACCACCTGCCTCTCCACC TCCCTCACCACTTCCCTCTCCACCTGCCTCACCACCTCCCTCA	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0013 a0013	a0013c0038 a0013c0038	a0013c0038t0001 a0013c0038t0001	a0013c0038t0001g0090 a0013c0038t0001g0090	1	146	0.0068	-192	c.-35 others(21): Show c.-351-17830_-351-17639del	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130646154	TCCACCTC others(185): Show TCCACCTCCCTCACCACCTGCCTCTCCACCTCCCTCACCACTTCCCTCTC CACCTCCCTCTCCACCTCCCTCACCACCTGCCTCTCCACCTCCCTCACCA CTTCCCTCTCCACCTGCCTCACCACCTCCCTCACCACCTGCCTCTCCACC TCCCTCACCACTTCCCTCTCCACCTGCCTCACCACCTCCCTCA	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0048 a0001c0048	a0001c0048t0001 a0001c0048t0001	a0001c0048t0001g0011 a0001c0048t0001g0011	1	110	0.0091	-192	c.-35 others(21): Show c.-351-17889_-351-17698del	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130646231	CTGCCTCT others(185): Show CTGCCTCTCCACCTCCCTCACCACTTCCCTCTCCACCTGCCTCACCACCT CCCTCACCACCTGCCTCTCCACCTCCCTCACCACTTCCCTCTCCACCTGC CTCACCACCTCCCTCACCACCTCCCTCACCACCTCCCTCACCACCTCCCT CACCACCTCCCTCACCACCTGCCTCTCCACCTCCCTCACCACT	C C	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0010 a0001c0003t0001g0010	1	168	0.0060	-192	c.-35 others(21): Show c.-351-17967_-351-17776del	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RNF213_chr17_80255852_80403794	80314301	GACGTGAT others(185): Show GACGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGGTGGTGGTGGTGGA GGTACTGGAGGTGATGGCGGTCGTGGAGGTGATGGTGGAGGTAATGGAGG TGGTGGTGGTGGTGGTGGTGGAGGTACTGGAGGTGATGGTGGAGGTAATG GAGGTGATGGTGGTGATGGTGATGGTGGAGGTACTGGAGGTGA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0060 a0060	a0060c0111 a0060c0111	a0060c0111t0024 a0060c0111t0024	a0060c0111t0024g0082 a0060c0111t0024g0082	1	200	0.0050	-192	c.281 others(19): Show c.2811+1135_2811+1326del	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67			chr17	TogoVar
RNF44_chr5_176521712_176542402	176530218	GCCAGGTG others(185): Show GCCAGGTGCAGGTCAGCCCAGCAGGCCTGCCTCCCAGCCGCCCCGGAGCC CAGGTGCAAGTCAGCCCGGTGGGCCTGCCTCCCAGCCGCCCCGGAGCCCA GGTGCAAGTCAGCCCGGTGGGCCTGCCTCCCAGCCGCCCCGGAGCCCACG TGCAAGTCAGCCCGGTGGGCCTGCCTCCCAGCCGCCCCGGAGC	G G	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	442	0.0023	-192	c.801 others(14): Show c.801+172_802-13del	RNF44	ENSG00000146083.12	transcript	ENST00000274811.9	protein_coding	6/10			chr5	TogoVar
RNF44_chr5_176521712_176542402	176530228	GGTCAGCC others(185): Show GGTCAGCCCAGCAGGCCTGCCTCCCAGCCGCCCCGGAGCCCAGGTGCAAG TCAGCCCGGTGGGCCTGCCTCCCAGCCGCCCCGGAGCCCAGGTGCAAGTC AGCCCGGTGGGCCTGCCTCCCAGCCGCCCCGGAGCCCACGTGCAAGTCAG CCCGGTGGGCCTGCCTCCCAGCCGCCCCGGAGCCCAGGTGCAA	G G	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp2 HG01943.hp1 others(11): Show HG00597.hp1 HG00597.hp2 HG01943.hp1 HG02148.hp2 HG02273.hp2 HG02647.hp2 NA18939.hp1 NA18945.hp2 NA18973.hp2 NA19007.hp1 NA19009.hp1 NA19054.hp2 NA19057.hp1 NA19081.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0015 a0001c0001 a0005c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0022 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0022 a0005c0015t0002	a0001c0001t0001g0018 a0001c0001t0001g0102 a0001c0001t0001g0119 others(7): Show a0001c0001t0001g0018 a0001c0001t0001g0102 a0001c0001t0001g0119 a0001c0001t0001g0135 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0002g0007 a0001c0001t0002g0039 a0001c0001t0022g0075 a0005c0015t0002g0092	14	280	0.0500	-192	c.801 others(14): Show c.801+162_802-23del	RNF44	ENSG00000146083.12	transcript	ENST00000274811.9	protein_coding	6/10			chr5	TogoVar
RNF44_chr5_176521712_176542402	176530328	AGCCCGGT others(185): Show AGCCCGGTGGGCCTGCCTCCCAGCCGCCCCGGAGCCCACGTGCAAGTCAG CCCGGTGGGCCTGCCTCCCAGCCGCCCCGGAGCCCAGGTGCAAGTCAGCC CAGCAGGCCTGCCTCCCAGCCGCCCCGGAGCCCACGTGCAAGTCAGCCCG GTGGGCCTGCCTCCCAGCTGCCTGGGAGCCCAGATGCAGGTCG	A A	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0108 a0001c0001t0011g0108	1	442	0.0023	-192	c.801 others(14): Show c.801+62_802-123del	RNF44	ENSG00000146083.12	transcript	ENST00000274811.9	protein_coding	6/10			chr5	TogoVar
RNF44_chr5_176521712_176542402	176530333	GGTGGGCC others(185): Show GGTGGGCCTGCCTCCCAGCCGCCCCGGAGCCCACGTGCAAGTCAGCCCGG TGGGCCTGCCTCCCAGCCGCCCCGGAGCCCAGGTGCAAGTCAGCCCAGCA GGCCTGCCTCCCAGCCGCCCCGGAGCCCACGTGCAAGTCAGCCCGGTGGG CCTGCCTCCCAGCTGCCTGGGAGCCCAGATGCAGGTCGGCCCA	G G	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02647.hp1 HG02602.hp2 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0019 a0001c0001t0001 a0001c0001t0019	a0001c0001t0001g0123 a0001c0001t0019g0064 a0001c0001t0001g0123 a0001c0001t0019g0064	2	408	0.0049	-192	c.801 others(14): Show c.801+57_802-128del	RNF44	ENSG00000146083.12	transcript	ENST00000274811.9	protein_coding	6/10			chr5	TogoVar
RPS6KA6_chrX_84053350_84193199	84191549	TATATATA others(185): Show TATATATATATCCATATATATATATCCATATATATATATATCCATATATA TATCCATATATATATCCATATATATATATCCATATATATATATCCATATA TATATATCCATATATATATATCCATATATATATATCCATATATATATATC CATATATATATATCCATATATATATATCCATATATATATATCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG02896.hp2 NA18906.hp2 others(1): Show HG00738.hp1 HG02896.hp2 NA18906.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0028 a0001c0001t0007 a0001c0001t0028	a0001c0001t0007g0073 a0001c0001t0007g0083 a0001c0001t0007g0089 others(1): Show a0001c0001t0007g0073 a0001c0001t0007g0083 a0001c0001t0007g0089 a0001c0001t0028g0086	4	267	0.0150	-192	c.-38 others(11): Show c.-3842_-3651del	RPS6KA6	ENSG00000072133.12	transcript	ENST00000262752.5	protein_coding		3351		chrX	TogoVar
SARDH_chr9_133658560_133743352	133668548	ACCCTCCC others(185): Show ACCCTCCCTCTCCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCTCA CCCTCCCTCTCCCCTTACCCTCCCCCTCCCTCTCCCTCACCTTCCCTCTC CCCTACCCTCCCTCTCCCTCACCCTCCCTCTCCCCTCACCCTCCCTCTCC CTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCCTTACCCTCC	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA19065.hp2 NA19088.hp1 HG00544.hp1 NA19065.hp2 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0011 a0002c0008 a0002c0010 a0001c0011 a0002c0008 a0002c0010	a0001c0011t0001 a0002c0008t0001 a0002c0010t0001 a0001c0011t0001 a0002c0008t0001 a0002c0010t0001	a0001c0011t0001g0102 a0002c0008t0001g0231 a0002c0010t0001g0015 a0001c0011t0001g0102 a0002c0008t0001g0231 a0002c0010t0001g0015	3	252	0.0119	-192	c.249 others(19): Show c.2495+1844_2496-1679del	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SDHA_chr5_213320_262082	261166	TCACAGCA others(185): Show TCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTG AGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCAC AGCATTACCGTGTGAGCTCCGCCTCCCCGCAGAGCATTACCGTGTGAGCT CCGCCTCCCGGCAGAGCATTACCGTGTGAGCTCCGCCTCCCGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	262	0.0038	-192	c.47 others(11): Show c.4747_*4938del	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		4085		chr5	TogoVar
SDHA_chr5_213320_262082	261609	TCCCGTCA others(185): Show TCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCCACAGAGCATTACC GTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCC GGCAGAGCATTACCGTGTGAGCTCCGCCTCCCGGCAGAGCATTACCGTGT GAGCTCCGCCCCCCGCCAGAGCATTACCGTGTGAGCTCCGCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	263	0.0038	-192	c.51 others(11): Show c.5190_*5381del	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		4528		chr5	TogoVar
SEMA4D_chr9_89372235_89503113	89404790	TCTCAGCC others(185): Show TCTCAGCCACTCACCTCAGCATCCCAGGAAGTGGGGTCCCCATCCCATCC TCAGCCACCCGCCTCAGCATCCCAGGAAGTGGAGTCCCCATCCCATCCCC AGTCACCCGCCTCAGCATCCCAGGAATTGGGGTCCCCATCCCATCGCCAG CCACCCACCTCAGCATCCCAGGAAGTGGGGTCCCCGTCCCGTC	T T	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0020 a0002c0002t0020	a0002c0002t0020g0004 a0002c0002t0020g0004	1	368	0.0027	-192	c.106 others(15): Show c.106+369_106+560del	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	3/15			chr9	TogoVar
SKI_chr1_2223319_2315213	2281511	AGGACGCC others(185): Show AGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCATAGAGAGGACGC CCGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAA GACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGC GGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGC	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0169 a0001c0003t0001g0169	1	303	0.0033	-192	c.970 others(19): Show c.970-21464_970-21273del	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281554	AGGACGCC others(185): Show AGGACGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGC CCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAA GACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGC GGTGGTGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGC	A A	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0130 a0001c0001t0006g0130	1	302	0.0033	-192	c.970 others(19): Show c.970-21421_970-21230del	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC22A24_chr11_63074940_63149221	63113033	AAAATATA others(185): Show AAAATATATATATATATATATACATATATATATATACATATATATACACA TATATATACATATATATATACATATATATACACATATATATATACATATA TATATACACATATATATATACATATATATATACACATATATATACATATA TATATACACATATATATATACATATATATACACATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	327	0.0031	-192	c.830 others(17): Show c.830+5687_830+5878del	SLC22A24	ENSG00000197658.9	transcript	ENST00000612278.4	protein_coding	4/9			chr11	TogoVar
SLC22A24_chr11_63074940_63149221	63113037	TATATATA others(185): Show TATATATATATATATATACATATATATATATACATATATATACACATATA TATACATATATATATACATATATATACACATATATATATACATATATATA TACACATATATATATACATATATATATACACATATATATACATATATATA TACACATATATATATACATATATATACACATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0279	1	338	0.0030	-192	c.830 others(17): Show c.830+5683_830+5874del	SLC22A24	ENSG00000197658.9	transcript	ENST00000612278.4	protein_coding	4/9			chr11	TogoVar
SLC66A2_chr18_79897420_79956653	79919511	CAGGAACC others(185): Show CAGGAACCGAGGGAGAGGTCAAGGTCAGTGGGGAGAGACAGGAACCGAGG GAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAAGG TCAGTGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGGGGAG AGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGGGGAGAGACA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01361.hp1 HG02132.hp2 others(7): Show HG00323.hp2 HG01361.hp1 HG02132.hp2 HG03098.hp1 NA18979.hp1 NA18982.hp1 NA19002.hp1 NA19005.hp2 NA19012.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 others(1): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010	a0001c0001t0004g0250 a0001c0001t0006g0240 a0001c0001t0006g0249 others(7): Show a0001c0001t0004g0250 a0001c0001t0006g0240 a0001c0001t0006g0249 a0001c0001t0006g0251 a0001c0001t0006g0252 a0001c0001t0006g0255 a0001c0001t0006g0256 a0001c0001t0006g0260 a0001c0001t0008g0265 a0001c0001t0010g0173	10	235	0.0426	-192	c.392 others(15): Show c.392-303_392-112del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79919701	ACAGGAAC others(185): Show ACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAG GGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGTGAGAGGTCAAG GTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGA GAGACAGGAACCGAGTGAGAGGTCAGGGTCAGTGAGGAGAGAC	A A	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0338 a0001c0001t0027g0338	1	280	0.0036	-192	c.392 others(15): Show c.392-493_392-302del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79919702	CAGGAACC others(185): Show CAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGG GAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGTGAGAGGTCAAGG TCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAG AGACAGGAACCGAGTGAGAGGTCAGGGTCAGTGAGGAGAGACA	C C	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0195 a0001c0001t0020g0195	1	303	0.0033	-192	c.392 others(15): Show c.392-494_392-303del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79920569	TGAGGAGA others(185): Show TGAGGAGAGACGGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGAC AGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGGG AGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAGGGT CAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAGGGTCAGAG	T T	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0337 a0001c0001t0023g0337	1	337	0.0030	-192	c.392 others(17): Show c.392-1361_392-1170del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79920722	TGAGGAGA others(185): Show TGAGGAGAGACAGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGAC AGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGGG AGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGTGAGAGGTCAAGGT CAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAGGGTCAGAG	T T	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0240 a0001c0001t0006g0240	1	322	0.0031	-192	c.392 others(17): Show c.392-1514_392-1323del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79920858	TGAGAGGT others(185): Show TGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAGG GTCAGAGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGA GAGACGGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAAC CGAGGGAGAGGTCAAGCTCAGTGAGGAGAGACAGGAACCGAGG	T T	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0212 a0001c0001t0008g0212	1	173	0.0058	-192	c.392 others(17): Show c.392-1650_392-1459del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79920908	GTCAGAGG others(185): Show GTCAGAGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGA GAGACGGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAAC CGAGGGAGAGGTCAAGCTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGT CAAGGTCAGTGAGGAGAGACAGGAACCGAGTGAGAGGTCAAGC	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 NA18980.hp2 HG00323.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0065 a0001c0001t0004g0250 a0001c0001t0001g0065 a0001c0001t0004g0250	2	339	0.0059	-192	c.392 others(17): Show c.392-1700_392-1509del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SMYD3_chr1_245744347_246512279	245974465	TAAAGCCA others(185): Show TAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAA GCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGC CATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGG	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02027.hp1 HG00423.hp2 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0031 a0001c0001t0001g0008 a0001c0001t0001g0031	2	130	0.0154	-192	c.532 others(19): Show c.532-44720_532-44529del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245974749	CAGGGAAA others(185): Show CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0063 a0001c0001t0002g0063	1	125	0.0080	-192	c.532 others(19): Show c.532-45004_532-44813del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245974937	GGCCTAGG others(185): Show GGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTGG CCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCC CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTGTA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp2 NA20129.hp1 HG00741.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0006 a0002c0016 a0001c0006 a0002c0016	a0001c0006t0001 a0002c0016t0001 a0001c0006t0001 a0002c0016t0001	a0001c0006t0001g0060 a0002c0016t0001g0097 a0001c0006t0001g0060 a0002c0016t0001g0097	2	112	0.0179	-192	c.532 others(19): Show c.532-45192_532-45001del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245974984	TGGCCTAG others(185): Show TGGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCG GCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGC CCAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTGTAGCCT AGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0076 a0001c0001t0002g0076	1	112	0.0089	-192	c.532 others(19): Show c.532-45239_532-45048del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975013	TAGGGAAA others(185): Show TAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCTAGG GAAAGCCATCGTCTGTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCCGGCCTAGGGAAAGCCATCGTCTCCGGCCC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0009 a0001c0002t0001g0009	1	125	0.0080	-192	c.532 others(19): Show c.532-45268_532-45077del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975105	AGCCTAGG others(185): Show AGCCTAGGGAAAGCCATCGTCTGTAGCCTAGGGAAAGCCATCGTCTCCGG CCCAGGGAAAGCCATCGTCTCCGGCCTAGGGAAAGCCATCGTCTCCGGCC CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCG	A A	intron_variant intron_variant	MODIFIER	HG02165.hp1 NA19057.hp1 HG02165.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0029 a0001c0001t0001g0019 a0001c0001t0001g0029	2	127	0.0157	-192	c.532 others(19): Show c.532-45360_532-45169del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975181	TAGGGAAA others(185): Show TAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCC	T T	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0074 a0001c0002t0001g0074	1	100	0.0100	-192	c.532 others(19): Show c.532-45436_532-45245del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975393	GGCCTAGG others(185): Show GGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTGG CCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCC CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTGTA	G G	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0071 a0001c0006t0001g0071	1	122	0.0082	-192	c.532 others(19): Show c.532-45648_532-45457del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975469	TAGGGAAA others(185): Show TAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCTAGG GAAAGCCATCGTCTGTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCCGGCCTAGGGAAAGCCATCGTCTCCGGCCC	T T	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0109 a0002c0003t0001g0109	1	89	0.0112	-192	c.532 others(19): Show c.532-45724_532-45533del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975751	CCGGCCCA others(185): Show CCGGCCCAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTGT AGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGG CCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCC CAGGGAAAGCCATCATCTCTAGCCTAGGGAAAGCCATCGTCTG	C C	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0002 a0001c0011t0002	a0001c0011t0002g0018 a0001c0011t0002g0018	1	148	0.0068	-192	c.532 others(19): Show c.532-46006_532-45815del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975781	TAGGGAAA others(185): Show TAGGGAAAGCCATCGTCTGTAGCCTAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCATCTCTAGCCTAGGGA AAGCCATCGTCTGTAGCCTAGGGAAAGCCATCGTCTCCGGCCC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0002 a0001c0009t0001g0002	1	107	0.0093	-192	c.532 others(19): Show c.532-46036_532-45845del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975877	CAGGGAAA others(185): Show CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCATCTCTAGCCTA GGGAAAGCCATCGTCTGTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCCGGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGA AAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCT	C C	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	133	0.0075	-192	c.532 others(19): Show c.532-46132_532-45941del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976069	TAGGGAAA others(185): Show TAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCCA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCCGGCCC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0145 a0002c0008t0001g0145	1	106	0.0094	-192	c.532 others(19): Show c.532-46324_532-46133del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar

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