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
BRSK2_chr11_1384934_1467689	1435310	GGGGGTCT others(79): Show GGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGG GTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGT	G G	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0014 a0014	a0014c0011 a0014c0011	a0014c0011t0004 a0014c0011t0004	a0014c0011t0004g0065 a0014c0011t0004g0065	1	360	0.0028	-86	c.92- others(99): Show c.92-725_92-640delTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCT CGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGT GGGG	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1435397	GGGGGTCT others(79): Show GGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGG GTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGT	G G	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0060 a0002c0002t0002g0060	1	360	0.0028	-86	c.92- others(99): Show c.92-638_92-553delTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCT CGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGT GGGG	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1435415	GGGGTGCC others(79): Show GGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCG GCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGA	G G	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0022 a0001c0001t0013g0022	1	360	0.0028	-86	c.92- others(99): Show c.92-621_92-536delTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGC CGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGG AGGG	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BTBD19_chr1_44803523_44820585	44816556	ATGTGTGT others(79): Show ATGTGTGTATATATTATATATACACATAGATGTGTGTGTATATATATACA CATAGATGTGTGTGTATATTATATATACACATAGATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0074 a0001c0001t0002g0074	1	436	0.0023	-86	c.27 others(97): Show c.2785_*2870delTGTGTGTATATATTATATATACACATAGATGTGT GTGTATATATATACACATAGATGTGTGTGTATATTATATATACACATAGA TG	BTBD19	ENSG00000222009.9	transcript	ENST00000450269.6	protein_coding		972		chr1	TogoVar
C2CD3_chr11_74007718_74176002	74117030	GTATATAT others(79): Show GTATATATACGTGTGTGTGTATATATATATGAATATATATATATGAATAT ATATATGAATATATATATATGAATATATATATATGAA	G G	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA20300.hp2 HG02886.hp2 NA20300.hp2	a0003 a0036 a0003 a0036	a0003c0016 a0036c0022 a0003c0016 a0036c0022	a0003c0016t0001 a0036c0022t0001 a0003c0016t0001 a0036c0022t0001	a0003c0016t0001g0242 a0036c0022t0001g0295 a0003c0016t0001g0242 a0036c0022t0001g0295	2	318	0.0063	-86	c.152 others(105): Show c.1520+1112_1520+1197delTTCATATATATATATTCATATATATA TATTCATATATATATTCATATATATATATTCATATATATATACACACACA CGTATATATA	C2CD3	ENSG00000168014.18	transcript	ENST00000334126.12	protein_coding	9/32			chr11	TogoVar
CA14_chr1_150252774_150270078	150259778	CCTCACCC others(79): Show CCTCACCCCACCCACCCCAATCTTCTAAGTGTTAGATTGACTTGGCACAG GTTACAGAAAAGAAAGGGTTGGGCCAATCGCACATTT	C C	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	416	0.0024	-86	c.56- others(99): Show c.56-372_56-287delCTCACCCCACCCACCCCAATCTTCTAAGTGTT AGATTGACTTGGCACAGGTTACAGAAAAGAAAGGGTTGGGCCAATCGCAC ATTT	CA14	ENSG00000118298.12	transcript	ENST00000369111.9	protein_coding	1/10			chr1	TogoVar
CAB39L_chr13_49303650_49449064	49318483	AGGGAAAG others(79): Show AGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAG GGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGG	A A	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18983.hp2 NA19005.hp1 others(1): Show NA18960.hp1 NA18983.hp2 NA19005.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0227 a0001c0002t0002g0080 a0001c0002t0002g0122 others(1): Show a0001c0001t0002g0227 a0001c0002t0002g0080 a0001c0002t0002g0122 a0001c0002t0002g0245	4	324	0.0124	-86	c.835 others(103): Show c.835-7576_835-7491delCCTTTCCCTTTCCCTTTCCCTTTCCCTT TCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTC CCTTTCCC	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	10/10			chr13	TogoVar
CAB39L_chr13_49303650_49449064	49318495	AGGGAAAG others(79): Show AGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAG GGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0293 a0001c0001t0004g0293	1	324	0.0031	-86	c.835 others(103): Show c.835-7588_835-7503delCCTTTCCCTTTCCCTTTCCCTTTCCCTT TCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTC CCTTTCCC	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	10/10			chr13	TogoVar
CAMKMT_chr2_44356947_44777592	44409097	ATATATAT others(79): Show ATATATATATATATATATATATATATATATATATATATATATATATATAT ATATATATATATATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01884.hp1 HG02896.hp1 others(5): Show HG00738.hp2 HG01884.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02976.hp1 NA20129.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006	a0001c0001t0001g0108 a0001c0001t0001g0115 a0001c0001t0002g0109 others(5): Show a0001c0001t0001g0108 a0001c0001t0001g0115 a0001c0001t0002g0109 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0002t0001g0053 a0001c0002t0002g0028 a0001c0002t0006g0107	8	198	0.0404	-86	c.376 others(105): Show c.376+18798_376+18883delATATATATATATATATATATATATAT ATATATATATATATATATATATATATATATATATATATATATATATATAT ATATGTATAT	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CANT1_chr17_78986716_79014764	79004411	AGGGGAGT others(79): Show AGGGGAGTTAGGGAGGGGGGAGTTAGGGAGAGGAGTTAAGGAGAGGGGAG TTAGGGAGGGGAGTTAGGGAGAGGGGAGTTAGGGAGG	A A	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0100 a0001c0002t0002g0100	1	394	0.0025	-86	c.-14 others(105): Show c.-147+5167_-147+5252delCCTCCCTAACTCCCCTCTCCCTAACT CCCCTCCCTAACTCCCCTCTCCTTAACTCCTCTCCCTAACTCCCCCCTCC CTAACTCCCC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CAPZA1_chr1_112614832_112676616	112640181	GGGAGGTG others(79): Show GGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAG GTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03098.hp2 HG01884.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0003 a0001c0001t0007	a0001c0001t0003g0020 a0001c0001t0007g0019 a0001c0001t0003g0020 a0001c0001t0007g0019	2	368	0.0054	-86	c.40- others(101): Show c.40-7027_40-6942delGAGGTGGGGGGGTCAGCCCCCCGCCCGGCC AGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACT GGGAAG	CAPZA1	ENSG00000116489.13	transcript	ENST00000263168.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
CBFA2T3_chr16_88869858_88982207	88934169	CGGCGAGA others(79): Show CGGCGAGAAGGGCTGCCCCACGCCCCTCGGCACACGGAGGCACCGGCGAG AAGGGCTGCCCCATGCCCCTCGGCACATGGAGGCACG	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0099 a0001c0001t0025g0099	1	284	0.0035	-86	c.152 others(105): Show c.152-32599_152-32514delCGTGCCTCCATGTGCCGAGGGGCATG GGGCAGCCCTTCTCGCCGGTGCCTCCGTGTGCCGAGGGGCGTGGGGCAGC CCTTCTCGCC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CCDC171_chr9_15548043_15979037	15602582	ATTGGTGT others(79): Show ATTGGTGTTACCCAAAAAGTTACCTCATTTTAAGATAGTGTTTCTCATTT CTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00423.hp1 others(149): Show HG00140.hp1 HG00323.hp1 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01081.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01169.hp1 HG01192.hp1 HG01243.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01884.hp1 HG01891.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02027.hp1 HG02040.hp2 HG02074.hp2 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp2 HG02818.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03453.hp1 HG03486.hp1 HG03490.hp1 HG03491.hp1 HG03516.hp1 HG03540.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18940.hp1 NA18942.hp1 NA18942.hp2 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18950.hp2 NA18952.hp2 NA18953.hp1 NA18955.hp1 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18969.hp2 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18978.hp1 NA18979.hp1 NA18980.hp1 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19054.hp2 NA19058.hp1 NA19058.hp2 NA19064.hp2 NA19068.hp2 NA19077.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp2 NA19086.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20905.hp2	a0001 a0002 a0003 others(18): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0019 a0020 a0021 a0023 a0024	a0001c0001 a0002c0002 a0002c0013 others(20): Show a0001c0001 a0002c0002 a0002c0013 a0003c0003 a0003c0014 a0004c0004 a0005c0005 a0006c0006 a0008c0008 a0009c0010 a0010c0012 a0011c0011 a0012c0027 a0013c0021 a0014c0019 a0015c0018 a0016c0025 a0017c0026 a0019c0022 a0020c0015 a0021c0020 a0023c0017 a0024c0023	a0001c0001t0010 a0002c0002t0001 a0002c0002t0002 others(37): Show a0001c0001t0010 a0002c0002t0001 a0002c0002t0002 a0002c0002t0011 a0002c0002t0016 a0002c0002t0021 a0002c0002t0022 a0002c0013t0002 a0002c0013t0020 a0003c0003t0001 a0003c0003t0002 a0003c0003t0004 a0003c0003t0006 a0003c0003t0007 a0003c0003t0018 a0003c0003t0028 a0003c0014t0004 a0004c0004t0001 a0004c0004t0003 a0004c0004t0013 a0005c0005t0009 a0006c0006t0003 a0006c0006t0014 a0008c0008t0008 a0009c0010t0026 a0009c0010t0027 a0010c0012t0002 a0011c0011t0001 a0011c0011t0003 a0012c0027t0003 a0013c0021t0002 a0014c0019t0002 a0015c0018t0002 a0016c0025t0002 a0017c0026t0024 a0019c0022t0002 a0020c0015t0025 a0021c0020t0002 a0023c0017t0001 a0024c0023t0001	a0001c0001t0010g0217 a0001c0001t0010g0218 a0001c0001t0010g0219 others(149): Show a0001c0001t0010g0217 a0001c0001t0010g0218 a0001c0001t0010g0219 a0001c0001t0010g0220 a0001c0001t0010g0221 a0002c0002t0001g0118 a0002c0002t0002g0064 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0002t0002g0074 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0080 a0002c0002t0002g0082 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0088 a0002c0002t0002g0090 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0108 a0002c0002t0002g0109 a0002c0002t0002g0110 a0002c0002t0002g0111 a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0002g0115 a0002c0002t0002g0116 a0002c0002t0002g0117 a0002c0002t0002g0119 a0002c0002t0002g0120 a0002c0002t0002g0121 a0002c0002t0002g0122 a0002c0002t0002g0123 a0002c0002t0002g0124 a0002c0002t0002g0126 a0002c0002t0002g0128 a0002c0002t0002g0129 a0002c0002t0002g0130 a0002c0002t0002g0131 a0002c0002t0002g0135 a0002c0002t0002g0138 a0002c0002t0002g0141 a0002c0002t0002g0142 a0002c0002t0002g0145 a0002c0002t0002g0237 a0002c0002t0011g0094 a0002c0002t0011g0132 a0002c0002t0011g0133 a0002c0002t0011g0134 a0002c0002t0016g0009 a0002c0002t0021g0093 a0002c0002t0022g0083 a0002c0013t0002g0068 a0002c0013t0020g0127 a0003c0003t0001g0139 a0003c0003t0001g0140 a0003c0003t0001g0144 a0003c0003t0002g0021 a0003c0003t0002g0049 a0003c0003t0002g0136 a0003c0003t0002g0137 a0003c0003t0004g0146 a0003c0003t0004g0147 a0003c0003t0006g0252 a0003c0003t0006g0253 a0003c0003t0006g0254 a0003c0003t0006g0255 a0003c0003t0006g0256 a0003c0003t0006g0258 a0003c0003t0006g0259 a0003c0003t0006g0266 a0003c0003t0007g0257 a0003c0003t0007g0261 a0003c0003t0007g0262 a0003c0003t0007g0263 a0003c0003t0007g0264 a0003c0003t0007g0265 a0003c0003t0018g0260 a0003c0003t0028g0249 a0003c0014t0004g0065 a0003c0014t0004g0066 a0004c0004t0001g0025 a0004c0004t0001g0037 a0004c0004t0003g0004 a0004c0004t0003g0005 a0004c0004t0003g0006 a0004c0004t0003g0007 a0004c0004t0003g0026 a0004c0004t0003g0027 a0004c0004t0003g0030 a0004c0004t0003g0031 a0004c0004t0003g0036 a0004c0004t0003g0038 a0004c0004t0003g0039 a0004c0004t0003g0040 a0004c0004t0003g0041 a0004c0004t0003g0043 a0004c0004t0003g0044 a0004c0004t0003g0045 a0004c0004t0003g0047 a0004c0004t0003g0048 a0004c0004t0003g0050 a0004c0004t0003g0051 a0004c0004t0003g0052 a0004c0004t0003g0056 a0004c0004t0013g0008 a0004c0004t0013g0042 a0005c0005t0009g0240 a0006c0006t0003g0028 a0006c0006t0003g0032 a0006c0006t0003g0033 a0006c0006t0003g0034 a0006c0006t0003g0035 a0006c0006t0003g0054 a0006c0006t0003g0055 a0006c0006t0014g0053 a0008c0008t0008g0072 a0008c0008t0008g0073 a0008c0008t0008g0091 a0008c0008t0008g0238 a0009c0010t0026g0063 a0009c0010t0027g0003 a0010c0012t0002g0067 a0010c0012t0002g0112 a0011c0011t0001g0057 a0011c0011t0003g0046 a0012c0027t0003g0029 a0013c0021t0002g0143 a0014c0019t0002g0102 a0015c0018t0002g0092 a0016c0025t0002g0232 a0017c0026t0024g0075 a0019c0022t0002g0089 a0020c0015t0025g0002 a0021c0020t0002g0125 a0023c0017t0001g0079 a0024c0023t0001g0157	152	266	0.5714	-86	c.675 others(103): Show c.675+8413_675+8498delGGTGTTACCCAAAAAGTTACCTCATTTT AAGATAGTGTTTCTCATTTCTTTTTTTTTTTTTTCTTTTTTTTTTTTTTT TTTTTTTT	CCDC171	ENSG00000164989.17	transcript	ENST00000380701.8	protein_coding	6/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCL17_chr16_57399767_57421063	57403260	AATATATA others(79): Show AATATATATAATATATATTATTATCTATAATATATATAATATATATTATT ATCTATAATATATATAATATATATTATTATCTATAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 HG03209.hp2 HG03130.hp1 HG03209.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0017 a0002c0002t0001g0017	2	388	0.0052	-86	c.-16 others(97): Show c.-1635_-1550delATATATATAATATATATTATTATCTATAATATAT ATAATATATATTATTATCTATAATATATATAATATATATTATTATCTATA AT	CCL17	ENSG00000102970.11	transcript	ENST00000219244.9	protein_coding		1506		chr16	TogoVar
CD163L1_chr12_7349960_7449153	7421001	ATATATAT others(79): Show ATATATATACGTGTATATATATACATATATATATACGTGTATATATATGT ATATACGTATATATGTATATATACGTATATATATACG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00673.hp1 others(75): Show HG00408.hp1 HG00423.hp1 HG00673.hp1 HG00738.hp1 HG01069.hp2 HG01099.hp1 HG01243.hp1 HG01884.hp2 HG01943.hp1 HG02055.hp2 HG02056.hp2 HG02074.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp2 HG02300.hp2 HG02486.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp2 HG02698.hp2 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG04115.hp1 HG04184.hp1 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18906.hp2 NA18941.hp2 NA18943.hp2 NA18946.hp1 NA18956.hp1 NA18962.hp2 NA18967.hp2 NA18968.hp1 NA18970.hp2 NA18975.hp1 NA18979.hp1 NA18983.hp2 NA18984.hp2 NA18991.hp2 NA18994.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19060.hp1 NA19062.hp2 NA19064.hp2 NA19068.hp2 NA19078.hp1 NA19081.hp1 NA19084.hp1 NA19085.hp2 NA19087.hp1 NA20300.hp2	a0002 a0003 a0012 others(2): Show a0002 a0003 a0012 a0015 a0023	a0002c0003 a0002c0032 a0003c0005 others(3): Show a0002c0003 a0002c0032 a0003c0005 a0012c0016 a0015c0040 a0023c0031	a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 others(7): Show a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0032t0001 a0003c0005t0001 a0003c0005t0002 a0003c0005t0003 a0012c0016t0001 a0015c0040t0001 a0023c0031t0001	a0002c0003t0001g0005 a0002c0003t0001g0007 a0002c0003t0001g0022 others(72): Show a0002c0003t0001g0005 a0002c0003t0001g0007 a0002c0003t0001g0022 a0002c0003t0001g0024 a0002c0003t0001g0029 a0002c0003t0001g0030 a0002c0003t0001g0034 a0002c0003t0001g0038 a0002c0003t0001g0039 a0002c0003t0001g0043 a0002c0003t0001g0049 a0002c0003t0001g0052 a0002c0003t0001g0054 a0002c0003t0001g0055 a0002c0003t0001g0057 a0002c0003t0001g0060 a0002c0003t0001g0064 a0002c0003t0001g0067 a0002c0003t0001g0070 a0002c0003t0001g0072 a0002c0003t0001g0074 a0002c0003t0001g0077 a0002c0003t0001g0079 a0002c0003t0001g0080 a0002c0003t0001g0082 a0002c0003t0001g0089 a0002c0003t0001g0090 a0002c0003t0001g0091 a0002c0003t0001g0092 a0002c0003t0001g0093 a0002c0003t0001g0094 a0002c0003t0002g0035 a0002c0003t0002g0037 a0002c0003t0002g0040 a0002c0003t0002g0041 a0002c0003t0002g0046 a0002c0003t0002g0047 a0002c0003t0002g0059 a0002c0003t0002g0061 a0002c0003t0002g0068 a0002c0003t0002g0071 a0002c0003t0002g0075 a0002c0003t0002g0076 a0002c0003t0002g0078 a0002c0003t0002g0081 a0002c0003t0002g0083 a0002c0003t0002g0084 a0002c0003t0002g0085 a0002c0003t0002g0087 a0002c0003t0003g0050 a0002c0003t0003g0051 a0002c0003t0003g0066 a0002c0032t0001g0036 a0003c0005t0001g0006 a0003c0005t0001g0025 a0003c0005t0001g0028 a0003c0005t0001g0044 a0003c0005t0001g0048 a0003c0005t0001g0062 a0003c0005t0001g0063 a0003c0005t0001g0065 a0003c0005t0001g0073 a0003c0005t0001g0325 a0003c0005t0001g0326 a0003c0005t0001g0327 a0003c0005t0002g0026 a0003c0005t0002g0027 a0003c0005t0002g0042 a0003c0005t0002g0086 a0003c0005t0003g0045 a0003c0005t0003g0058 a0012c0016t0001g0031 a0012c0016t0001g0056 a0015c0040t0001g0069 a0023c0031t0001g0053	78	384	0.2031	-86	c.766 others(105): Show c.766+11329_766+11414delCGTATATATATACGTATATATACATA TATACGTATATACATATATATACACGTATATATATATGTATATATATACA CGTATATATA	CD163L1	ENSG00000177675.9	transcript	ENST00000313599.8	protein_coding	4/19			chr12	TogoVar
CD164L2_chr1_27374176_27388333	27386120	CGTGAGCC others(79): Show CGTGAGCCACCGTGCCCGGCCAGTTTCGAACTTTTGACCTCAAATGATTC ACCCACCTTGACCTCCCAAAGTGCTGGGATTACAGGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG03540.hp2 HG02615.hp2 HG03540.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0017 a0002c0002t0001g0017	2	354	0.0057	-86	c.-29 others(97): Show c.-2967_-2882delACCTGTAATCCCAGCACTTTGGGAGGTCAAGGTG GGTGAATCATTTGAGGTCAAAAGTTCGAAACTGGCCGGGCACGGTGGCTC AC	CD164L2	ENSG00000174950.11	transcript	ENST00000374030.3	protein_coding		2788		chr1	TogoVar
CDH15_chr16_89166748_89200492	89189197	CCATACAC others(79): Show CCATACACAGATGCCCACGCACAGGTGCCCACACACAGATGCTGGCACAC ACAGATGCCCACACACATGCCCACACACAGATGCCGG	C C	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0267 a0004c0005t0001g0267	1	406	0.0025	-86	c.978 others(101): Show c.978+915_979-958delTACACAGATGCCCACGCACAGGTGCCCACA CACAGATGCTGGCACACACAGATGCCCACACACATGCCCACACACAGATG CCGGCA	CDH15	ENSG00000129910.8	transcript	ENST00000289746.3	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CDH18_chr5_19466296_19993200	19849629	TATATATA others(79): Show TATATATACACGCATATATATATAAACATATATATATACACGCATATATA TATAAACATATATATATACACGCATATATATATAAAC	T T	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	138	0.0073	-86	c.-25 others(107): Show c.-256-10473_-256-10388delGTTTATATATATATGCGTGTATAT ATATATGTTTATATATATATGCGTGTATATATATATGTTTATATATATAT GCGTGTATATAT	CDH18	ENSG00000145526.12	transcript	ENST00000382275.6	protein_coding	2/12			chr5	TogoVar
CELF1_chr11_47460937_47558132	47541728	ACGAAAGA others(79): Show ACGAAAGAAAGAACGAAAGAAAGAAAGAACGAAAGAAAGAACGAAAGAAA GAACGAAAGAAAGAACGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01358.hp1 HG01346.hp2 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0032 a0001c0001t0003g0033	2	340	0.0059	-86	c.-15 others(107): Show c.-154+11178_-154+11263delCTTTCTTTCTTTCTTTCTTTCGTT CTTTCTTTCGTTCTTTCTTTCGTTCTTTCTTTCGTTCTTTCTTTCTTTCG TTCTTTCTTTCG	CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding	1/14			chr11	TogoVar
CHCHD6_chr3_126699240_126965420	126862734	CTCCTCCA others(79): Show CTCCTCCACCATCACCACCTCCTCCTCCACCATCACCACCTCCTCCTCCT CCACCATCACCACCTTCCCCTCTACCACCATCACCAA	C C	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	216	0.0046	-86	c.495 others(105): Show c.495+10005_495+10090delTCCTCCACCATCACCACCTCCTCCTC CACCATCACCACCTCCTCCTCCTCCACCATCACCACCTTCCCCTCTACCA CCATCACCAA	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7			chr3	TogoVar
CHD5_chr1_6096787_6185321	6149960	GAATGGAT others(79): Show GAATGGATGGGCAAATGAATGGATGATGGATGGATGGACAAATGGATGGA TGGATGGATGGATGGATGGATGGGCAAATGGATGAGT	G G	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG04204.hp1 HG02602.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0135 a0001c0001t0003g0176 a0001c0001t0003g0135 a0001c0001t0003g0176	2	320	0.0063	-86	c.995 others(101): Show c.995-634_995-549delACTCATCCATTTGCCCATCCATCCATCCAT CCATCCATCCATCCATTTGTCCATCCATCCATCATCCATTCATTTGCCCA TCCATT	CHD5	ENSG00000116254.18	transcript	ENST00000262450.8	protein_coding	7/41			chr1	TogoVar
CHST8_chr19_33616953_33778506	33757418	GAAAGAAA others(79): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01255.hp2 HG00735.hp1 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0044 a0001c0001t0003g0137 a0001c0001t0002g0044 a0001c0001t0003g0137	2	254	0.0079	-86	c.131 others(105): Show c.131-13993_131-13908delAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAA	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CLPX_chr15_65143219_65190342	65145940	ATATATAA others(79): Show ATATATAAATATATATATAAAATATATATATAAATATATATATAAATATA TATATAAATATATATATAAATATATATATAAATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG01256.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0026 a0001c0001t0025 a0001c0001t0026	a0001c0001t0025g0168 a0001c0001t0026g0167 a0001c0001t0025g0168 a0001c0001t0026g0167	2	190	0.0105	-86	c.47 others(97): Show c.4797_*4882delATATATTTATATATATATTTATATATATATTTAT ATATATATTTATATATATATTTATATATATATTTTATATATATATTTATA TA	CLPX	ENSG00000166855.9	transcript	ENST00000300107.7	protein_coding		2278		chr15	TogoVar
CLPX_chr15_65143219_65190342	65145984	AATATATA others(79): Show AATATATATATAAATATATATATAAATATATATATAAATATATATATAAA TATATATATAAATATATATATAAATATATATATAAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	190	0.0053	-86	c.47 others(97): Show c.4753_*4838delATTTATATATATATTTATATATATATTTATATAT ATATTTATATATATATTTATATATATATTTATATATATATTTATATATAT AT	CLPX	ENSG00000166855.9	transcript	ENST00000300107.7	protein_coding		2234		chr15	TogoVar
CLPX_chr15_65143219_65190342	65146008	AATATATA others(79): Show AATATATATATAAATATATATATAAATATATATATAAATATATATATAAA TATATATATAAATATATATATAAATATATATATAAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(82): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01109.hp2 HG01169.hp2 HG01192.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02129.hp1 HG02129.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02559.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02738.hp1 HG02818.hp1 HG02922.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03139.hp2 HG03239.hp1 HG03471.hp2 HG03492.hp2 HG03669.hp1 HG03669.hp2 HG04228.hp1 HG04228.hp2 NA18747.hp1 NA18747.hp2 NA18953.hp1 NA18953.hp2 NA18957.hp1 NA19010.hp1 NA19043.hp1 NA19085.hp2 NA20752.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0010 a0001c0001t0011 others(4): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0011 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0002c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(74): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0018 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0010g0098 a0001c0001t0010g0160 a0001c0001t0011g0170 a0001c0001t0011g0171 a0001c0001t0022g0080 a0001c0001t0023g0101 a0001c0001t0024g0065 a0002c0003t0001g0175	85	190	0.4474	-86	c.47 others(97): Show c.4729_*4814delATTTATATATATATTTATATATATATTTATATAT ATATTTATATATATATTTATATATATATTTATATATATATTTATATATAT AT	CLPX	ENSG00000166855.9	transcript	ENST00000300107.7	protein_coding		2210		chr15	TogoVar
CLPX_chr15_65143219_65190342	65146020	AATATATA others(79): Show AATATATATATAAATATATATATAAATATATATATAAATATATATATAAA TATATATATAAATATATATATAAATATATATATAAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02922.hp1 HG02970.hp2 HG02257.hp1 HG02922.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0021 a0001c0001t0004g0028 a0001c0001t0004g0029 a0001c0001t0003g0021 a0001c0001t0004g0028 a0001c0001t0004g0029	3	190	0.0158	-86	c.47 others(97): Show c.4717_*4802delATTTATATATATATTTATATATATATTTATATAT ATATTTATATATATATTTATATATATATTTATATATATATTTATATATAT AT	CLPX	ENSG00000166855.9	transcript	ENST00000300107.7	protein_coding		2198		chr15	TogoVar
CLSTN2_chr3_139930185_140582397	140419709	ATATGTAT others(79): Show ATATGTATATATACGTATATACATGTATATACGTATATATACACATATAC GTGTATACACGTGTATACACGTATATACACGTATACG	A A	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	110	0.0091	-86	c.638 others(103): Show c.638-1414_638-1329delATGTATATATACGTATATACATGTATAT ACGTATATATACACATATACGTGTATACACGTGTATACACGTATATACAC GTATACGT	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNOT1_chr16_58514951_58634826	58579721	CGCGCTCT others(79): Show CGCGCTCTCTCCCTGTAGCCCTGCGTACTTCAAAAATGATCAAAGTACTT GTACCATTCTTTCTTCACACATTCACAGAGAGGAATG	C C	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	308	0.0033	-86	c.134 others(103): Show c.1343+826_1344-783delCATTCCTCTCTGTGAATGTGTGAAGAAA GAATGGTACAAGTACTTTGATCATTTTTGAAGTACGCAGGGCTACAGGGA GAGAGCGC	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	12/48			chr16	TogoVar
CNOT1_chr16_58514951_58634826	58581046	AAAACACC others(79): Show AAAACACCTTGACTGTTAAAAGACATTTCTGAGCCAATTAGGGAAACTTA ACGTTGCCTTGGAAATGAACATCATTAAACTATTGGG	A A	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	308	0.0033	-86	c.121 others(103): Show c.1215+213_1216-287delCCCAATAGTTTAATGATGTTCATTTCCA AGGCAACGTTAAGTTTCCCTAATTGGCTCAGAAATGTCTTTTAACAGTCA AGGTGTTT	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	11/48			chr16	TogoVar
CNTNAP2_chr7_146111801_148425998	147775301	ATATTTAT others(79): Show ATATTTATAAATATATATATATTTATATATATTTATAAATATATATATTT ATATATATTTATAAATATATATATATTTATATATATT	A A	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	40	0.0250	-86	c.209 others(109): Show c.2099-128260_2099-128175delTTATAAATATATATATATTTAT ATATATTTATAAATATATATATTTATATATATTTATAAATATATATATAT TTATATATATTTAT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
COBL_chr7_51011212_51321809	51288781	TTTAGAAA others(79): Show TTTAGAAAATACAAATGGGAAATAAGAACTGAATTCAAATACTAGTCTTC AAGATGGATATCTATGGAAATACTCTTCTACCTACTC	T T	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA19086.hp2 NA18980.hp1 NA19086.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0136 a0002c0002t0002g0159 a0002c0002t0001g0136 a0002c0002t0002g0159	2	230	0.0087	-86	c.41+ others(103): Show c.41+27726_41+27811delGAGTAGGTAGAAGAGTATTTCCATAGAT ATCCATCTTGAAGACTAGTATTTGAATTCAGTTCTTATTTCCCATTTGTA TTTTCTAA	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	1/12			chr7	TogoVar
COL18A1_chr21_45400165_45518720	45501715	CCTCTGCA others(79): Show CCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGC AGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG01255.hp1 others(1): Show HG00099.hp1 HG00323.hp1 HG01255.hp1 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0013 a0001c0001 a0001c0002 a0001c0013	a0001c0001t0001 a0001c0002t0002 a0001c0013t0002 a0001c0001t0001 a0001c0002t0002 a0001c0013t0002	a0001c0001t0001g0191 a0001c0002t0002g0074 a0001c0002t0002g0102 others(1): Show a0001c0001t0001g0191 a0001c0002t0002g0074 a0001c0002t0002g0102 a0001c0013t0002g0206	4	292	0.0137	-86	c.268 others(105): Show c.2684-2227_2684-2142delCCACAGCCGGTCACCTCTCTCTGCAG AAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACC CCCAGGGGCT	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45501787	CAGCCGGT others(79): Show CAGCCGGTCACCTCTCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGG TCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAA	C C	intron_variant intron_variant	MODIFIER	HG03831.hp2 NA18952.hp2 NA18995.hp2 HG03831.hp2 NA18952.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0002 a0001c0004t0001 a0001c0001t0001 a0001c0002t0002 a0001c0004t0001	a0001c0001t0001g0103 a0001c0002t0002g0283 a0001c0004t0001g0225 a0001c0001t0001g0103 a0001c0002t0002g0283 a0001c0004t0001g0225	3	292	0.0103	-86	c.268 others(105): Show c.2684-2210_2684-2125delTCTCTGCAGAAGGACCCCCAGGGGCT CCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGC CGGTCACCTC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45501998	CTCCACAG others(79): Show CTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCCTCCGC AGCCGGTCACCTCCCTCTGCCGAAGGACCCCCAGGGG	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02615.hp1 HG03486.hp1 others(1): Show HG02145.hp1 HG02615.hp1 HG03486.hp1 NA21309.hp1	a0001 a0002 a0037 a0001 a0002 a0037	a0001c0015 a0001c0039 a0002c0012 others(1): Show a0001c0015 a0001c0039 a0002c0012 a0037c0102	a0001c0015t0003 a0001c0039t0001 a0002c0012t0004 others(1): Show a0001c0015t0003 a0001c0039t0001 a0002c0012t0004 a0037c0102t0001	a0001c0015t0003g0284 a0001c0039t0001g0155 a0002c0012t0004g0049 others(1): Show a0001c0015t0003g0284 a0001c0039t0001g0155 a0002c0012t0004g0049 a0037c0102t0001g0146	4	292	0.0137	-86	c.268 others(105): Show c.2684-2012_2684-1927delTCCACAGCCGGTCACCTCCCTCTGCA GAAGGACCCTCAGGGGCCTCCGCAGCCGGTCACCTCCCTCTGCCGAAGGA CCCCCAGGGG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41			chr21	TogoVar
COL4A3_chr2_227159624_227319792	227203475	GTATACAT others(79): Show GTATACATATGTGTGTATATGTGTATATATACATATATGTGTGTATATAT GTGTATATATACATATATGTGTGTATATATGTGTATA	G G	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0012 a0012	a0012c0022 a0012c0022	a0012c0022t0001 a0012c0022t0001	a0012c0022t0001g0069 a0012c0022t0001g0069	1	344	0.0029	-86	c.88- others(103): Show c.88-34483_88-34398delGTGTGTATATGTGTATATATACATATAT GTGTGTATATATGTGTATATATACATATATGTGTGTATATATGTGTATAT ATACATAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COLEC11_chr2_3590112_3649644	3615873	GGACGCGG others(79): Show GGACGCGGCGGCTGGCCGGGCGGGGGCTGCCCCCCACCTCCCTCCCGGAC GGGGGGGCTGCCGGGTGGAGATGCTCCTCACTTCCCA	G G	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	378	0.0027	-86	c.202 others(103): Show c.202+2496_202+2581delCGGCGGCTGGCCGGGCGGGGGCTGCCCC CCACCTCCCTCCCGGACGGGGGGGCTGCCGGGTGGAGATGCTCCTCACTT CCCAGACG	COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
CPSF2_chr14_92116969_92177145	92173319	ACATATAT others(79): Show ACATATATATATACGTATATATATATGTATATATATATACGTATATATAT ATGTATATATATACGTATATATATATATACACATATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0113 a0001c0001t0048g0113	1	388	0.0026	-86	c.11 others(99): Show c.11576_*11661delCATATATATATACGTATATATATATGTATATA TATATACGTATATATATATGTATATATATACGTATATATATATATACACA TATG	CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding		1175		chr14	TogoVar
CRELD2_chr22_49913634_49932537	49926678	CCCCCCAC others(79): Show CCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCTCTTGCCCCT CCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG03209.hp1 NA18940.hp2 others(1): Show HG00741.hp1 HG03209.hp1 NA18940.hp2 NA18950.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0006 a0002c0002 a0004c0006	a0002c0002t0001 a0004c0006t0004 a0002c0002t0001 a0004c0006t0004	a0002c0002t0001g0133 a0002c0002t0001g0136 a0002c0002t0001g0138 others(1): Show a0002c0002t0001g0133 a0002c0002t0001g0136 a0002c0002t0001g0138 a0004c0006t0004g0163	4	324	0.0124	-86	c.101 others(103): Show c.1010-571_1010-486delACCCCGGGTCCCCTCTTGCCCCTCCCTC CCCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTC CCTCCCCC	CRELD2	ENSG00000184164.15	transcript	ENST00000328268.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr22	TogoVar
CRELD2_chr22_49913634_49932537	49926711	CCCCCCCT others(79): Show CCCCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCT CCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCT	C C	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0139 a0002c0002t0001g0139	1	324	0.0031	-86	c.101 others(103): Show c.1010-537_1010-452delTCTTGCCCCTCCCTCCCCCCACCCCGGG TCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCC CTCCCCCC	CRELD2	ENSG00000184164.15	transcript	ENST00000328268.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr22	TogoVar
CRIM1_chr2_36350778_36556135	36351883	TGTGCAAC others(79): Show TGTGCAACTCAATTCCAAGAGTATGTGAGTCAAACTCAAAGGCAACTTCT ACATTCTTCTTTTCATTTCAGGAAGAGAAAATACAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0027 a0001c0002t0014g0027	1	324	0.0031	-86	c.-44 others(97): Show c.-4409_-4324delGTGCAACTCAATTCCAAGAGTATGTGAGTCAAAC TCAAAGGCAACTTCTACATTCTTCTTTTCATTTCAGGAAGAGAAAATACA AA	CRIM1	ENSG00000150938.10	transcript	ENST00000280527.7	protein_coding		3894		chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924412	CCCCACAC others(79): Show CCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCACACTAACCCAG CCCCCAACACTAACCCGGCCCCCCACACTAACCCAGT	C C	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0010 a0010	a0010c0009 a0010c0009	a0010c0009t0001 a0010c0009t0001	a0010c0009t0001g0101 a0010c0009t0001g0101	1	350	0.0029	-86	c.489 others(103): Show c.489-1308_489-1223delACACTAACCCAGCCCCCACACTAACCCG GCCCCCACACTAACCCAGCCCCCAACACTAACCCGGCCCCCCACACTAAC CCAGTCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CSMD1_chr8_2930361_4999914	3558571	GCAATGAT others(79): Show GCAATGATGAATGGTGTCTCAATAGTACCCCGTGTCCACTCCTCCAATGA TGAATAGTGCCTCAATAGTACCCCGTGTCCACTCCTC	G G	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0003 a0003	a0003c0056 a0003c0056	a0003c0056t0062 a0003c0056t0062	a0003c0056t0062g0072 a0003c0056t0062g0072	1	126	0.0079	-86	c.134 others(107): Show c.1344+16288_1344+16373delGAGGAGTGGACACGGGGTACTATT GAGGCACTATTCATCATTGGAGGAGTGGACACGGGGTACTATTGAGACAC CATTCATCATTG	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	10/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3795891	ACAGATAT others(79): Show ACAGATATATATATCATGTACAGATATAGATATCTATCATGTACAGATAT AGATATCTATCATGTACAGATATAGATATCTATCATG	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0008 a0008	a0008c0088 a0008c0088	a0008c0088t0076 a0008c0088t0076	a0008c0088t0076g0057 a0008c0088t0076g0057	1	126	0.0079	-86	c.819 others(105): Show c.819-41935_819-41850delCATGATAGATATCTATATCTGTACAT GATAGATATCTATATCTGTACATGATAGATATCTATATCTGTACATGATA TATATATCTG	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3838624	TTAATATA others(79): Show TTAATATATAATAAATTAATATTATATAGTATAATATATAATAAATTAAT ATTATATAGTATAATATATAATAAATATTATATAGTA	T T	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01934.hp2 HG02056.hp2 others(1): Show HG01255.hp1 HG01934.hp2 HG02056.hp2 NA19074.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0071 a0001c0090 a0002c0031 others(1): Show a0001c0071 a0001c0090 a0002c0031 a0003c0099	a0001c0071t0069 a0001c0090t0001 a0002c0031t0015 others(1): Show a0001c0071t0069 a0001c0090t0001 a0002c0031t0015 a0003c0099t0014	a0001c0071t0069g0115 a0001c0090t0001g0027 a0002c0031t0015g0001 others(1): Show a0001c0071t0069g0115 a0001c0090t0001g0027 a0002c0031t0015g0001 a0003c0099t0014g0020	4	126	0.0318	-86	c.819 others(105): Show c.819-84668_819-84583delTACTATATAATATTTATTATATATTA TACTATATAATATTAATTTATTATATATTATACTATATAATATTAATTTA TTATATATTA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4295232	ATATGCAC others(79): Show ATATGCACATATAATCTTAAGATTTTCTATATAATCTTAAGATTATATGC ACATATAATCTTAAGATTATCTATATAATCTTAAGAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01074.hp2 HG00099.hp1 HG01074.hp2	a0003 a0009 a0003 a0009	a0003c0056 a0009c0097 a0003c0056 a0009c0097	a0003c0056t0062 a0009c0097t0018 a0003c0056t0062 a0009c0097t0018	a0003c0056t0062g0072 a0009c0097t0018g0089 a0003c0056t0062g0072 a0009c0097t0018g0089	2	126	0.0159	-86	c.415 others(107): Show c.415+124635_415+124720delATCTTAAGATTATATAGATAATCT TAAGATTATATGTGCATATAATCTTAAGATTATATAGAAAATCTTAAGAT TATATGTGCATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSNK1A1_chr5_149487982_149556439	149542589	AATTTATA others(79): Show AATTTATATATATATATATATATATATATATATATATATATATATATATA TGTATATATATATATATATATATATATATATATGTAT	A A	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18944.hp2 NA18968.hp1 others(5): Show NA18941.hp2 NA18944.hp2 NA18968.hp1 NA18985.hp2 NA18993.hp1 NA19012.hp2 NA19066.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0020 others(1): Show a0001c0001t0006 a0001c0001t0007 a0001c0001t0020 a0001c0001t0041	a0001c0001t0006g0182 a0001c0001t0006g0183 a0001c0001t0006g0184 others(5): Show a0001c0001t0006g0182 a0001c0001t0006g0183 a0001c0001t0006g0184 a0001c0001t0006g0185 a0001c0001t0007g0200 a0001c0001t0007g0317 a0001c0001t0020g0325 a0001c0001t0041g0197	8	390	0.0205	-86	c.230 others(103): Show c.230+7400_230+7485delATACATATATATATATATATATATATAT ATATATACATATATATATATATATATATATATATATATATATATATATAT ATATAAAT	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
D2HGDH_chr2_241729630_241773811	241760089	ATGGGTGG others(79): Show ATGGGTGGGCCTTACCCAATCAGTCGAAGGACTTCGCCACAGCGTGGGTG GGCCTTACCCAATCAGTCGAAGGCCTTTGCTACAGTG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02976.hp1 NA19030.hp1 HG01884.hp2 HG02976.hp1 NA19030.hp1	a0002 a0003 a0008 a0002 a0003 a0008	a0002c0002 a0003c0003 a0008c0011 a0002c0002 a0003c0003 a0008c0011	a0002c0002t0007 a0003c0003t0021 a0008c0011t0021 a0002c0002t0007 a0003c0003t0021 a0008c0011t0021	a0002c0002t0007g0131 a0003c0003t0021g0358 a0008c0011t0021g0035 a0002c0002t0007g0131 a0003c0003t0021g0358 a0008c0011t0021g0035	3	412	0.0073	-86	c.130 others(105): Show c.1306+4277_1306+4362delACTTCGCCACAGCGTGGGTGGGCCTT ACCCAATCAGTCGAAGGCCTTTGCTACAGTGTGGGTGGGCCTTACCCAAT CAGTCGAAGG	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
DAB2IP_chr9_121646634_121790530	121777677	CATTCCAA others(79): Show CATTCCAACTGGTTTTTGCTTTATGTACACTGAAACTATTCTTAGGTGCA TATACATTTAGGCTGTTTATGTACTATTGTTGAATTA	C C	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	224	0.0045	-86	c.331 others(105): Show c.3314+1374_3314+1459delTTCCAACTGGTTTTTGCTTTATGTAC ACTGAAACTATTCTTAGGTGCATATACATTTAGGCTGTTTATGTACTATT GTTGAATTAA	DAB2IP	ENSG00000136848.19	transcript	ENST00000408936.8	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
DCAF10_chr9_37795797_37872664	37797877	ATTTGCTT others(79): Show ATTTGCTTTTTATTTTTCAATAAGCTTATATGATAGGATCACTTTACTCA GCATAATATTAGGCATACACTAAACATTATATGAATG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0185 a0001c0001t0003g0185	1	356	0.0028	-86	c.-29 others(97): Show c.-2989_-2904delTTTGCTTTTTATTTTTCAATAAGCTTATATGATA GGATCACTTTACTCAGCATAATATTAGGCATACACTAAACATTATATGAA TG	DCAF10	ENSG00000122741.16	transcript	ENST00000377724.8	protein_coding		2919		chr9	TogoVar
DCC_chr18_52335197_53540899	53206332	CATATATG others(79): Show CATATATGTATATATGTATATATACATATATGTATTGTAACACATATATG TATATATGTATATATACATATATGTATTGTAACACAT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02970.hp2 HG02976.hp2 others(3): Show HG00735.hp2 HG02970.hp2 HG02976.hp2 HG03209.hp1 HG03579.hp2 NA19030.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0005 a0002c0012 a0003c0006 a0001c0005 a0002c0012 a0003c0006	a0001c0005t0007 a0001c0005t0011 a0002c0012t0011 others(1): Show a0001c0005t0007 a0001c0005t0011 a0002c0012t0011 a0003c0006t0010	a0001c0005t0007g0108 a0001c0005t0007g0114 a0001c0005t0011g0045 others(3): Show a0001c0005t0007g0108 a0001c0005t0007g0114 a0001c0005t0011g0045 a0002c0012t0011g0037 a0003c0006t0010g0072 a0003c0006t0010g0111	6	114	0.0526	-86	c.172 others(104): Show c.1722+973_1722+1058delATGTATATATGTATATATACATATATG TATTGTAACACATATATGTATATATGTATATATACATATATGTATTGTAA CACATATAT	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	10/28		INFO_REALIGN_3_PRIME	chr18	TogoVar

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