view | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SNX8_chr7_2246770_2319441 | 2268694 | C | CCCGGCCA others(42): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00558.hp2 others(106): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0002c0004others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(21): Show | a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0028 others(103): Show |
109 | 366 | 0.2978 | 49 | c.621 others(64): Show |
SNX8 | ENSG00000106266.11 | transcript | ENST00000222990.8 | protein_coding | 5/10 | chr7 | TogoVar | |||||||
SNX8_chr7_2246770_2319441 | 2268697 | A | AGCCAGCC others(42): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00639.hp2 HG00642.hp1 others(43): Show |
a0001a0002a0004 | a0001c0001a0001c0016a0002c0004others(1): Show | a0001c0001t0003a0001c0001t0011a0001c0001t0013others(9): Show | a0001c0001t0003g0040 a0001c0001t0003g0068 a0001c0001t0003g0069 others(43): Show |
46 | 107 | 0.4299 | 49 | c.621 others(64): Show |
SNX8 | ENSG00000106266.11 | transcript | ENST00000222990.8 | protein_coding | 5/10 | chr7 | TogoVar | |||||||
SNX8_chr7_2246770_2319441 | 2268727 | G | GGGTGTCA others(42): Show |
intron_variant | MODIFIER | HG00673.hp2 HG02155.hp1 NA18955.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0023 a0001c0001t0009g0083 a0001c0001t0009g0106 others(2): Show |
5 | 368 | 0.0136 | 49 | c.621 others(64): Show |
SNX8 | ENSG00000106266.11 | transcript | ENST00000222990.8 | protein_coding | 5/10 | chr7 | TogoVar | |||||||
SNX9_chr6_157818246_157950077 | 157915640 | A | AAAAAAAA others(42): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0266 | 1 | 191 | 0.0052 | 49 | c.949 others(66): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SNX9_chr6_157818246_157950077 | 157915640 | A | AAAAAAAA others(42): Show |
intron_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0265 | 1 | 191 | 0.0052 | 49 | c.949 others(66): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SORCS2_chr4_7187538_7747827 | 7510717 | G | GCCACCCC others(42): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02109.hp1 HG02559.hp2 others(5): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0058a0001c0002t0003a0001c0003t0014others(5): Show | a0001c0001t0058g0161 a0001c0002t0003g0018 a0001c0003t0014g0034 others(5): Show |
8 | 40 | 0.2000 | 49 | c.549 others(68): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SORCS2_chr4_7187538_7747827 | 7510717 | G | GCGACCCC others(42): Show |
intron_variant | MODIFIER | HG01106.hp2 HG03579.hp1 NA19240.hp2 |
a0001a0003a0018 | a0001c0011a0003c0046a0018c0025 | a0001c0011t0003a0003c0046t0001a0018c0025t0019 | a0001c0011t0003g0120 a0003c0046t0001g0164 a0018c0025t0019g0025 |
3 | 35 | 0.0857 | 49 | c.549 others(68): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SORCS2_chr4_7187538_7747827 | 7510717 | G | GCGACCCC others(42): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02886.hp1 HG03471.hp1 others(2): Show |
a0001a0003 | a0001c0003a0001c0005a0001c0010others(1): Show | a0001c0003t0023a0001c0005t0003a0001c0010t0026others(2): Show | a0001c0003t0023g0147 a0001c0005t0003g0032 a0001c0010t0026g0105 others(2): Show |
5 | 37 | 0.1351 | 49 | c.549 others(68): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SORCS2_chr4_7187538_7747827 | 7510717 | G | GCGACCCC others(42): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(117): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0002a0001c0003others(38): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(93): Show | a0001c0001t0002g0067 a0001c0001t0002g0089 a0001c0001t0003g0003 others(117): Show |
120 | 152 | 0.7895 | 49 | c.549 others(68): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SORCS2_chr4_7187538_7747827 | 7510724 | C | CGGGGCTG others(42): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0002 | a0002c0004 | a0002c0004t0005 | a0002c0004t0005g0083 | 1 | 168 | 0.0060 | 49 | c.549 others(68): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SORCS3_chr10_104636290_105270242 | 104696353 | T | TATACACA others(42): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01123.hp2 others(4): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0005others(2): Show | a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0002t0001g0073 others(4): Show |
7 | 34 | 0.2059 | 49 | c.627 others(68): Show |
SORCS3 | ENSG00000156395.14 | transcript | ENST00000369701.8 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SORCS3_chr10_104636290_105270242 | 104696353 | T | TATACACA others(42): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0001 | 1 | 28 | 0.0357 | 49 | c.627 others(68): Show |
SORCS3 | ENSG00000156395.14 | transcript | ENST00000369701.8 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SOX5_chr12_23524504_23954670 | 23603445 | A | AATATATA others(42): Show |
intron_variant | MODIFIER | HG01106.hp1 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0107a0001c0001t0110 | a0001c0001t0107g0211 a0001c0001t0110g0056 |
2 | 89 | 0.0225 | 49 | c.116 others(66): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 9/14 | chr12 | TogoVar | |||||||
SPAG6_chr10_22340496_22422610 | 22346490 | C | CTTCTTCT others(42): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 127 | 0.0079 | 49 | c.121 others(64): Show |
SPAG6 | ENSG00000077327.16 | transcript | ENST00000376624.8 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SPATA13_chr13_24155720_24312069 | 24190318 | A | ATTATATA others(42): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0019 | 1 | 286 | 0.0035 | 49 | c.-11 others(70): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 1/12 | chr13 | TogoVar | |||||||
SPATA5_chr4_122918078_123324433 | 123015881 | C | CGGATGGG others(42): Show |
intron_variant | MODIFIER | HG02965.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0033a0001c0001t0034 | a0001c0001t0033g0262 a0001c0001t0034g0261 |
2 | 259 | 0.0077 | 49 | c.187 others(70): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPDYE2B_chr7_102645319_102667625 | 102646940 | G | GAAAGAAA others(42): Show |
upstream_gene_variant | MODIFIER | NA18985.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 94 | 0.0106 | 49 | c.-38 others(60): Show |
SPDYE2B | ENSG00000173678.15 | transcript | ENST00000507450.6 | protein_coding | 3378 | chr7 | TogoVar | |||||||
SPESP1_chr15_68925525_68951811 | 68943247 | T | TAAAACCC others(42): Show |
intron_variant | MODIFIER | NA18944.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0051 | 1 | 400 | 0.0025 | 49 | c.65- others(64): Show |
SPESP1 | ENSG00000258484.4 | transcript | ENST00000310673.4 | protein_coding | 1/1 | chr15 | TogoVar | |||||||
SPG7_chr16_89503403_89562766 | 89541008 | C | CTAGAAGA others(42): Show |
intron_variant | MODIFIER | HG02886.hp1 HG03225.hp2 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0226 a0001c0001t0001g0243 a0001c0001t0001g0328 |
3 | 355 | 0.0085 | 49 | c.132 others(68): Show |
SPG7 | ENSG00000197912.16 | transcript | ENST00000645818.2 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPG7_chr16_89503403_89562766 | 89541145 | C | CTACGCAG others(42): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 354 | 0.0028 | 49 | c.132 others(68): Show |
SPG7 | ENSG00000197912.16 | transcript | ENST00000645818.2 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPICE1_chr3_113437718_113520156 | 113480931 | A | AGAAAGAA others(42): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01192.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0007 | a0001c0002t0003g0275 a0001c0002t0003g0301 a0001c0002t0003g0309 others(2): Show |
5 | 284 | 0.0176 | 49 | c.611 others(66): Show |
SPICE1 | ENSG00000163611.11 | transcript | ENST00000295872.8 | protein_coding | 7/17 | chr3 | TogoVar | |||||||
SPINK13_chr5_148263794_148291255 | 148264087 | A | ACTGGTCC others(42): Show |
upstream_gene_variant | MODIFIER | NA19078.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 374 | 0.0027 | 49 | c.-48 others(60): Show |
SPINK13 | ENSG00000214510.10 | transcript | ENST00000398450.5 | protein_coding | 4706 | chr5 | TogoVar | |||||||
SPINK2_chr4_56804861_56826701 | 56821746 | A | AGGGCGGG others(42): Show |
upstream_gene_variant | MODIFIER | HG01891.hp2 HG02258.hp2 HG02572.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0053 a0002c0002t0002g0184 a0002c0002t0002g0198 |
3 | 365 | 0.0082 | 49 | c.-85 others(56): Show |
SPINK2 | ENSG00000128040.13 | transcript | ENST00000506738.6 | protein_coding | 46 | chr4 | TogoVar | |||||||
SPOCK3_chr4_166728384_167239494 | 167205307 | T | TATTATAG others(42): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0009 | 1 | 133 | 0.0075 | 49 | c.189 others(68): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 2/10 | chr4 | TogoVar | |||||||
SPOCK3_chr4_166728384_167239494 | 167205520 | A | ATATATTA others(42): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 142 | 0.0070 | 49 | c.189 others(68): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 2/10 | chr4 | TogoVar | |||||||
SPON2_chr4_1161932_1177583 | 1175015 | G | GCCCTCCA others(42): Show |
upstream_gene_variant | MODIFIER | HG03139.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0066 | 1 | 430 | 0.0023 | 49 | c.-24 others(60): Show |
SPON2 | ENSG00000159674.12 | transcript | ENST00000290902.10 | protein_coding | 2433 | chr4 | TogoVar | |||||||
SPRED2_chr2_65305851_65437599 | 65339119 | T | TCCCGGCC others(42): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(139): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(20): Show | a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 others(139): Show |
142 | 272 | 0.5221 | 49 | c.205 others(66): Show |
SPRED2 | ENSG00000198369.10 | transcript | ENST00000356388.9 | protein_coding | 2/5 | chr2 | TogoVar | |||||||
SPRED2_chr2_65305851_65437599 | 65339130 | C | CGCCCCGT others(42): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01167.hp2 others(41): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(7): Show | a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 others(40): Show |
44 | 274 | 0.1606 | 49 | c.205 others(66): Show |
SPRED2 | ENSG00000198369.10 | transcript | ENST00000356388.9 | protein_coding | 2/5 | chr2 | TogoVar | |||||||
SRCIN1_chr17_38525031_38610952 | 38556676 | G | GGGGGGTC others(42): Show |
intron_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 260 | 0.0038 | 49 | c.220 others(68): Show |
SRCIN1 | ENSG00000277363.5 | transcript | ENST00000617146.5 | protein_coding | 11/18 | chr17 | TogoVar | |||||||
SRP68_chr17_76033785_76077517 | 76062566 | T | TTATATAA others(42): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01099.hp1 others(13): Show |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0002a0005c0008t0001 | a0001c0001t0002g0010 a0001c0001t0002g0053 a0001c0001t0002g0057 others(12): Show |
16 | 318 | 0.0503 | 49 | c.562 others(64): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 4/15 | chr17 | TogoVar | |||||||
SRP68_chr17_76033785_76077517 | 76062578 | C | CATTATAT others(42): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0137 | 1 | 328 | 0.0030 | 49 | c.562 others(66): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 4/15 | chr17 | TogoVar | |||||||
SRP68_chr17_76033785_76077517 | 76062606 | T | TAATATAC others(42): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195 | 1 | 353 | 0.0028 | 49 | c.562 others(66): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 4/15 | chr17 | TogoVar | |||||||
SRP68_chr17_76033785_76077517 | 76062740 | T | TATATATA others(42): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0284 | 1 | 363 | 0.0028 | 49 | c.562 others(66): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 4/15 | chr17 | TogoVar | |||||||
SSC5D_chr19_55483436_55524099 | 55495233 | A | ATATATAT others(42): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0005 | a0005c0069 | a0005c0069t0001 | a0005c0069t0001g0353 | 1 | 190 | 0.0053 | 49 | c.138 others(66): Show |
SSC5D | ENSG00000179954.16 | transcript | ENST00000389623.11 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SSC5D_chr19_55483436_55524099 | 55495233 | A | ATATATAT others(42): Show |
intron_variant | MODIFIER | HG02155.hp2 NA19002.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 a0001c0001t0001g0283 |
2 | 191 | 0.0105 | 49 | c.138 others(66): Show |
SSC5D | ENSG00000179954.16 | transcript | ENST00000389623.11 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SSX2B_chrX_52746252_52766536 | 52748038 | T | TTTTATAT others(42): Show |
upstream_gene_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 55 | 0.0182 | 49 | c.-33 others(60): Show |
SSX2B | ENSG00000268447.6 | transcript | ENST00000596480.6 | protein_coding | 3213 | chrX | TogoVar | |||||||
ST7_chr7_116948501_117235176 | 117027463 | A | AAAAGTAA others(42): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02970.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 a0001c0001t0001g0092 |
2 | 15 | 0.1333 | 49 | c.152 others(68): Show |
ST7 | ENSG00000004866.22 | transcript | ENST00000323984.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
STAB2_chr12_103582273_103771719 | 103643940 | C | CTGTCTGG others(42): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0032 | a0032c0055 | a0032c0055t0002 | a0032c0055t0002g0238 | 1 | 254 | 0.0039 | 49 | c.104 others(68): Show |
STAB2 | ENSG00000136011.15 | transcript | ENST00000388887.7 | protein_coding | 9/68 | chr12 | TogoVar | |||||||
STAB2_chr12_103582273_103771719 | 103643941 | C | CGTCCGGG others(42): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0031 | a0031c0095 | a0031c0095t0001 | a0031c0095t0001g0050 | 1 | 61 | 0.0164 | 49 | c.104 others(68): Show |
STAB2 | ENSG00000136011.15 | transcript | ENST00000388887.7 | protein_coding | 9/68 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
STAB2_chr12_103582273_103771719 | 103643941 | C | CGTCCGGG others(42): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02055.hp2 HG02109.hp2 others(18): Show |
a0001a0004a0006others(8): Show | a0001c0004a0001c0039a0001c0096others(13): Show | a0001c0004t0001a0001c0004t0004a0001c0039t0001others(14): Show | a0001c0004t0001g0098 a0001c0004t0004g0012 a0001c0039t0001g0038 others(17): Show |
21 | 81 | 0.2593 | 49 | c.104 others(68): Show |
STAB2 | ENSG00000136011.15 | transcript | ENST00000388887.7 | protein_coding | 9/68 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
STAB2_chr12_103582273_103771719 | 103643941 | C | CGTCTGGG others(42): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0019 | a0019c0143 | a0019c0143t0001 | a0019c0143t0001g0216 | 1 | 61 | 0.0164 | 49 | c.104 others(68): Show |
STAB2 | ENSG00000136011.15 | transcript | ENST00000388887.7 | protein_coding | 9/68 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
STAB2_chr12_103582273_103771719 | 103643941 | C | CGTCTGGG others(42): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(165): Show |
a0001a0002a0003others(30): Show | a0001c0001a0001c0002a0001c0003others(100): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(105): Show | a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0095 others(163): Show |
168 | 228 | 0.7368 | 49 | c.104 others(68): Show |
STAB2 | ENSG00000136011.15 | transcript | ENST00000388887.7 | protein_coding | 9/68 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
STAB2_chr12_103582273_103771719 | 103643941 | C | CGTCTGGG others(42): Show |
intron_variant | MODIFIER | HG03195.hp1 NA20129.hp1 |
a0001 | a0001c0012a0001c0042 | a0001c0012t0001a0001c0042t0003 | a0001c0012t0001g0240 a0001c0042t0003g0007 |
2 | 62 | 0.0323 | 49 | c.104 others(68): Show |
STAB2 | ENSG00000136011.15 | transcript | ENST00000388887.7 | protein_coding | 9/68 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
STAMBP_chr2_73823961_73872168 | 73846666 | G | GTATAAGT others(42): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0045 | 1 | 366 | 0.0027 | 49 | c.376 others(64): Show |
STAMBP | ENSG00000124356.17 | transcript | ENST00000394070.7 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
STEAP1B_chr7_22414444_22505188 | 22456972 | A | ATATATAT others(42): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 192 | 0.0052 | 49 | c.762 others(68): Show |
STEAP1B | ENSG00000105889.16 | transcript | ENST00000678116.1 | protein_coding | 4/4 | chr7 | TogoVar | |||||||
STEAP1B_chr7_22414444_22505188 | 22456972 | A | ATATATAT others(42): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0112 | 1 | 192 | 0.0052 | 49 | c.762 others(68): Show |
STEAP1B | ENSG00000105889.16 | transcript | ENST00000678116.1 | protein_coding | 4/4 | chr7 | TogoVar | |||||||
STEAP1B_chr7_22414444_22505188 | 22456972 | A | ATATATAT others(42): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0252 | 1 | 192 | 0.0052 | 49 | c.762 others(68): Show |
STEAP1B | ENSG00000105889.16 | transcript | ENST00000678116.1 | protein_coding | 4/4 | chr7 | TogoVar | |||||||
STEAP4_chr7_88265892_88311894 | 88266123 | C | CTCCCTCC others(42): Show |
downstream_gene_variant | MODIFIER | HG03491.hp2 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0014 | 1 | 316 | 0.0032 | 49 | c.*13 others(62): Show |
STEAP4 | ENSG00000127954.13 | transcript | ENST00000380079.9 | protein_coding | 4768 | chr7 | TogoVar | |||||||
STK10_chr5_172037079_172193224 | 172076207 | T | TGTTGTGG others(42): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0005 | a0005c0026 | a0005c0026t0026 | a0005c0026t0026g0222 | 1 | 229 | 0.0044 | 49 | c.198 others(68): Show |
STK10 | ENSG00000072786.13 | transcript | ENST00000176763.10 | protein_coding | 12/18 | chr5 | TogoVar | |||||||
STK10_chr5_172037079_172193224 | 172076390 | C | CGTCCTGT others(42): Show |
intron_variant | MODIFIER | HG03098.hp2 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0015 | a0001c0001t0010g0009 a0001c0001t0015g0048 |
2 | 228 | 0.0088 | 49 | c.198 others(68): Show |
STK10 | ENSG00000072786.13 | transcript | ENST00000176763.10 | protein_coding | 12/18 | chr5 | TogoVar |