regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C4B_chr6_32009795_32040418 | 32024976 | C | T | splice_region_variant others(1): Show |
LOW | NA18989.hp2 | a0003 | a0003c0001 | a0003c0001t0001 | a0003c0001t0001g0073 | 1 | 334 | 0.0030 | 0 | c.171 others(6): Show |
C4B | ENSG00000224389.9 | transcript | ENST00000435363.7 | protein_coding | 13/40 | chr6 | TogoVar | ||||||
C4B_chr6_32009795_32040418 | 32025523 | C | CTT | splice_region_variant others(1): Show |
LOW | HG02615.hp2 HG02738.hp2 HG03491.hp2 others(2): Show |
a0004a0028 | a0004c0005a0028c0049 | a0004c0005t0001a0028c0049t0001 | a0004c0005t0001g0031a0004c0005t0001g0043a0028c0049t0001g0043 | 5 | 334 | 0.0150 | 2 | c.187 others(15): Show |
C4B | ENSG00000224389.9 | transcript | ENST00000435363.7 | protein_coding | 14/40 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
C4orf17_chr4_99506021_99547303 | 99539374 | A | G | splice_region_variant others(1): Show |
LOW | HG00639.hp2 HG01257.hp1 HG01361.hp2 |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0033a0002c0004t0001g0034a0002c0004t0001g0035 | 3 | 386 | 0.0078 | 0 | c.836 others(5): Show |
C4orf17 | ENSG00000138813.10 | transcript | ENST00000326581.9 | protein_coding | 7/8 | chr4 | TogoVar | ||||||
C4orf33_chr4_129091152_129121637 | 129102604 | A | C | splice_region_variant | LOW | NA19076.hp2 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0080 | 1 | 396 | 0.0025 | 0 | c.-7A others(2): Show |
C4orf33 | ENSG00000151470.13 | transcript | ENST00000425929.6 | protein_coding | 2/6 | chr4 | TogoVar | ||||||
C4orf33_chr4_129091152_129121637 | 129102604 | A | T | splice_region_variant | LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(277): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0006a0002c0002others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(37): Show | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0014others(98): Show | 280 | 396 | 0.7071 | 0 | c.-7A others(2): Show |
C4orf33 | ENSG00000151470.13 | transcript | ENST00000425929.6 | protein_coding | 2/6 | chr4 | TogoVar | ||||||
C4orf33_chr4_129091152_129121637 | 129106647 | C | T | missense_variant others(1): Show |
MODERATE | HG00735.hp1 | a0009 | a0009c0012 | a0009c0012t0058 | a0009c0012t0058g0093 | 1 | 396 | 0.0025 | 0 | c.242 others(3): Show |
p.Pro others(5): Show |
C4orf33 | ENSG00000151470.13 | transcript | ENST00000425929.6 | protein_coding | 3/6 | 309/5513 | 242/600 | 81/199 | chr4 | TogoVar | ||
C4orf33_chr4_129091152_129121637 | 129111688 | A | G | missense_variant others(1): Show |
MODERATE | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(29): Show |
a0003a0007 | a0003c0003a0007c0009a0007c0010 | a0003c0003t0005a0003c0003t0014a0007c0009t0005others(1): Show | a0003c0003t0005g0005a0003c0003t0005g0009a0003c0003t0005g0010others(13): Show | 32 | 396 | 0.0808 | 0 | c.497 others(3): Show |
p.His others(6): Show |
C4orf33 | ENSG00000151470.13 | transcript | ENST00000425929.6 | protein_coding | 6/6 | 564/5513 | 497/600 | 166/199 | chr4 | TogoVar | ||
C4orf36_chr4_86871205_86897422 | 86888273 | T | C | missense_variant others(1): Show |
MODERATE | HG02451.hp1 HG02559.hp1 HG02970.hp2 |
a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0031a0006c0006t0001g0073 | 3 | 386 | 0.0078 | 0 | c.68A others(2): Show |
p.Gln others(5): Show |
C4orf36 | ENSG00000163633.12 | transcript | ENST00000295898.8 | protein_coding | 3/5 | 381/908 | 68/354 | 23/117 | chr4 | TogoVar | ||
C4orf47_chr4_185421254_185454826 | 185440722 | A | G | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(297): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0007a0001c0009others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0017others(269): Show | 300 | 358 | 0.8380 | 0 | c.714 others(5): Show |
C4orf47 | ENSG00000205129.9 | transcript | ENST00000378850.5 | protein_coding | 6/7 | chr4 | TogoVar | ||||||
C4orf48_chr4_2036995_2048964 | 2042322 | T | A | splice_region_variant others(1): Show |
LOW | NA18965.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0010 | 1 | 392 | 0.0026 | 0 | c.-25 others(5): Show |
C4orf48 | ENSG00000243449.8 | transcript | ENST00000409248.10 | protein_coding | 1/3 | chr4 | TogoVar | ||||||
C4orf50_chr4_5954375_6023431 | 5973651 | G | A | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(27): Show |
a0002a0005a0012others(18): Show | a0002c0002a0005c0005a0012c0017others(18): Show | a0002c0002t0000a0005c0005t0000a0012c0017t0000others(18): Show | a0002c0002t0000g0080a0005c0005t0000g0297a0005c0005t0000g0298others(26): Show | 30 | 346 | 0.0867 | 0 | c.410 others(6): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 9/11 | chr4 | TogoVar | ||||||
C4orf50_chr4_5954375_6023431 | 5988349 | T | G | missense_variant others(1): Show |
MODERATE | NA18522.hp1 | a0080 | a0080c0107 | a0080c0107t0000 | a0080c0107t0000g0223 | 1 | 346 | 0.0029 | 0 | c.369 others(4): Show |
p.Met others(7): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 6/12 | 3697/4527 | 3697/4527 | 1233/1508 | chr4 | TogoVar | ||
C4orf50_chr4_5954375_6023431 | 5990829 | A | G | splice_region_variant others(1): Show |
LOW | HG00323.hp1 HG00544.hp1 HG00544.hp2 others(205): Show |
a0001a0002a0005others(49): Show | a0001c0001a0001c0084a0001c0106others(53): Show | a0001c0001t0000a0001c0084t0000a0001c0106t0000others(53): Show | a0001c0001t0000g0015a0001c0001t0000g0032a0001c0001t0000g0055others(202): Show | 208 | 346 | 0.6012 | 0 | c.122 others(6): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 5/11 | chr4 | TogoVar | ||||||
C4orf50_chr4_5954375_6023431 | 5994342 | C | T | splice_region_variant others(1): Show |
LOW | HG01106.hp2 HG02683.hp1 HG03710.hp1 others(2): Show |
a0010a0011a0050 | a0010c0010a0011c0012a0050c0054 | a0010c0010t0000a0011c0012t0000a0050c0054t0000 | a0010c0010t0000g0217a0011c0012t0000g0046a0011c0012t0000g0047others(2): Show | 5 | 346 | 0.0145 | 0 | c.109 others(6): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 4/11 | chr4 | TogoVar | ||||||
C4orf50_chr4_5954375_6023431 | 5994474 | A | G | splice_region_variant others(1): Show |
LOW | HG01167.hp1 HG01255.hp2 HG01257.hp2 others(38): Show |
a0009a0015a0016others(20): Show | a0009c0009a0015c0015a0016c0016others(21): Show | a0009c0009t0000a0015c0015t0000a0016c0016t0000others(21): Show | a0009c0009t0000g0162a0009c0009t0000g0163a0009c0009t0000g0164others(38): Show | 41 | 346 | 0.1185 | 0 | c.966 others(3): Show |
p.Asp others(6): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 4/12 | 966/4527 | 966/4527 | 322/1508 | chr4 | TogoVar | ||
C5AR1_chr19_47304861_47327066 | 47319781 | G | A | missense_variant others(1): Show |
MODERATE | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(364): Show |
a0001a0003 | a0001c0001a0001c0005a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(203): Show | 367 | 376 | 0.9761 | 0 | c.4G> others(1): Show |
p.Asp others(4): Show |
C5AR1 | ENSG00000197405.8 | transcript | ENST00000355085.4 | protein_coding | 2/2 | 39/2324 | 4/1053 | 2/350 | chr19 | TogoVar | ||
C5orf34_chr5_43481709_43520148 | 43492722 | G | T | missense_variant others(1): Show |
MODERATE | HG01109.hp1 HG02451.hp1 HG02896.hp1 others(5): Show |
a0002 | a0002c0005 | a0002c0005t0003 | a0002c0005t0003g0034a0002c0005t0003g0035a0002c0005t0003g0181others(3): Show | 8 | 340 | 0.0235 | 0 | c.148 others(4): Show |
p.Gln others(6): Show |
C5orf34 | ENSG00000172244.9 | transcript | ENST00000306862.7 | protein_coding | 9/13 | 1862/2502 | 1483/1917 | 495/638 | chr5 | TogoVar | ||
C5orf47_chr5_173984170_174011140 | 173998245 | T | G | splice_region_variant others(1): Show |
LOW | HG00408.hp2 HG00673.hp2 HG01358.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0047a0001c0001t0001g0059a0001c0001t0001g0067others(4): Show | 21 | 382 | 0.0550 | 0 | c.411 others(5): Show |
C5orf47 | ENSG00000185056.10 | transcript | ENST00000340147.7 | protein_coding | 2/4 | chr5 | TogoVar | ||||||
C6_chr5_41137116_41218532 | 41153812 | T | C | missense_variant others(1): Show |
MODERATE | HG01167.hp2 HG01169.hp1 |
a0007 | a0007c0017 | a0007c0017t0004 | a0007c0017t0004g0154a0007c0017t0004g0155 | 2 | 402 | 0.0050 | 0 | c.228 others(4): Show |
p.Lys others(6): Show |
C6 | ENSG00000039537.16 | transcript | ENST00000337836.10 | protein_coding | 15/18 | 2465/3691 | 2288/2805 | 763/934 | chr5 | TogoVar | ||
C6_chr5_41137116_41218532 | 41172351 | G | A | splice_region_variant others(1): Show |
LOW | HG00597.hp1 HG02040.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0199a0002c0002t0001g0200 | 2 | 402 | 0.0050 | 0 | c.116 others(6): Show |
C6 | ENSG00000039537.16 | transcript | ENST00000337836.10 | protein_coding | 8/17 | chr5 | TogoVar | ||||||
C6orf118_chr6_165274664_165314605 | 165280109 | C | A | missense_variant others(1): Show |
MODERATE | HG01884.hp2 HG02615.hp2 HG02818.hp2 others(2): Show |
a0006a0007 | a0006c0010a0007c0012 | a0006c0010t0001a0007c0012t0001 | a0006c0010t0001g0020a0006c0010t0001g0045a0007c0012t0001g0027 | 5 | 360 | 0.0139 | 0 | c.135 others(4): Show |
p.Gly others(6): Show |
C6orf118 | ENSG00000112539.15 | transcript | ENST00000230301.9 | protein_coding | 9/9 | 1377/1822 | 1358/1410 | 453/469 | chr6 | TogoVar | ||
C6orf118_chr6_165274664_165314605 | 165281696 | G | T | splice_region_variant others(1): Show |
LOW | HG01346.hp2 HG01433.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197a0001c0001t0001g0226 | 2 | 360 | 0.0056 | 0 | c.130 others(6): Show |
C6orf118 | ENSG00000112539.15 | transcript | ENST00000230301.9 | protein_coding | 7/8 | chr6 | TogoVar | ||||||
C6orf118_chr6_165274664_165314605 | 165289882 | G | A | splice_region_variant others(1): Show |
LOW | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 | 1 | 360 | 0.0028 | 0 | c.130 others(6): Show |
C6orf118 | ENSG00000112539.15 | transcript | ENST00000230301.9 | protein_coding | 7/8 | chr6 | TogoVar | ||||||
C6orf118_chr6_165274664_165314605 | 165299438 | G | A | splice_region_variant others(1): Show |
LOW | HG00323.hp2 HG01070.hp1 HG01071.hp1 others(23): Show |
a0002 | a0002c0004a0002c0005 | a0002c0004t0001a0002c0004t0002a0002c0005t0001 | a0002c0004t0001g0005a0002c0004t0001g0028a0002c0004t0001g0102others(17): Show | 26 | 360 | 0.0722 | 0 | c.936 others(5): Show |
C6orf118 | ENSG00000112539.15 | transcript | ENST00000230301.9 | protein_coding | 4/8 | chr6 | TogoVar | ||||||
C6orf136_chr6_30642133_30658207 | 30651090 | T | C | splice_region_variant others(1): Show |
LOW | HG02015.hp2 HG02056.hp1 HG02080.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009a0001c0001t0001g0061a0001c0001t0001g0076others(1): Show | 17 | 409 | 0.0416 | 0 | c.110 others(6): Show |
C6orf136 | ENSG00000204564.12 | transcript | ENST00000651131.1 | protein_coding | 3/5 | chr6 | TogoVar | ||||||
C6orf141_chr6_49545668_49557095 | 49552093 | G | T | splice_region_variant | LOW | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0000 | 1 | 414 | 0.0024 | 0 | c.*56 others(4): Show |
C6orf141 | ENSG00000197261.12 | transcript | ENST00000529246.4 | protein_coding | 1/1 | chr6 | TogoVar | ||||||
C6orf163_chr6_87339813_87370463 | 87356303 | A | G | splice_region_variant others(1): Show |
LOW | HG03225.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0004 | 1 | 436 | 0.0023 | 0 | c.354 others(3): Show |
p.Glu others(6): Show |
C6orf163 | ENSG00000203872.7 | transcript | ENST00000388923.5 | protein_coding | 4/5 | 641/1344 | 354/990 | 118/329 | chr6 | TogoVar | ||
C6orf52_chr6_10666422_10699616 | 10687473 | C | A | splice_region_variant others(1): Show |
LOW | HG02486.hp1 HG02622.hp1 HG02965.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0038a0002c0002t0001g0148a0002c0002t0001g0149 | 4 | 284 | 0.0141 | 0 | c.71+ others(4): Show |
C6orf52 | ENSG00000137434.12 | transcript | ENST00000259983.8 | protein_coding | 2/4 | chr6 | TogoVar | ||||||
C6orf58_chr6_127572174_127596820 | 127578780 | C | T | splice_region_variant others(1): Show |
LOW | NA18986.hp2 NA18998.hp1 NA19057.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0128 | 6 | 454 | 0.0132 | 0 | c.388 others(5): Show |
C6orf58 | ENSG00000184530.9 | transcript | ENST00000329722.8 | protein_coding | 2/5 | chr6 | TogoVar | ||||||
C6orf89_chr6_36880952_36933964 | 36919700 | C | T | splice_region_variant others(1): Show |
LOW | HG00140.hp2 HG00323.hp1 HG00735.hp1 others(31): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0006a0001c0003t0022a0001c0003t0037others(2): Show | a0001c0003t0006g0012a0001c0003t0006g0017a0001c0003t0006g0018others(27): Show | 34 | 396 | 0.0859 | 0 | c.948 others(3): Show |
p.Ile others(6): Show |
C6orf89 | ENSG00000198663.17 | transcript | ENST00000480824.7 | protein_coding | 8/9 | 1144/6763 | 948/1044 | 316/347 | chr6 | TogoVar | ||
C7_chr5_40904497_40989643 | 40955551 | A | C | missense_variant others(1): Show |
MODERATE | NA18956.hp2 NA18957.hp1 NA18991.hp2 others(2): Show |
a0009a0011 | a0009c0010a0011c0012 | a0009c0010t0002a0011c0012t0001 | a0009c0010t0002g0066a0009c0010t0002g0121a0009c0010t0002g0122others(2): Show | 5 | 380 | 0.0132 | 0 | c.125 others(4): Show |
p.Lys others(6): Show |
C7 | ENSG00000112936.21 | transcript | ENST00000313164.10 | protein_coding | 10/18 | 1372/5716 | 1258/2532 | 420/843 | chr5 | TogoVar | ||
C7_chr5_40904497_40989643 | 40976845 | G | A | splice_region_variant others(1): Show |
LOW | HG00642.hp1 | a0016 | a0016c0021 | a0016c0021t0004 | a0016c0021t0004g0274 | 1 | 380 | 0.0026 | 0 | c.216 others(6): Show |
C7 | ENSG00000112936.21 | transcript | ENST00000313164.10 | protein_coding | 16/17 | chr5 | TogoVar | ||||||
C7_chr5_40904497_40989643 | 40982040 | AAGAGGAC others(3395): Show |
A | splice_region_variant | LOW | NA19009.hp1 | a0002 | a0002c0002 | a0002c0002t0033 | a0002c0002t0033g0359 | 1 | 380 | 0.0026 | -3402 | c.*47 others(10): Show |
C7 | ENSG00000112936.21 | transcript | ENST00000313164.10 | protein_coding | 18/18 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
C7orf25_chr7_42904273_42917070 | 42910925 | G | A | splice_region_variant others(1): Show |
LOW | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 384 | 0.0026 | 0 | c.-21 others(5): Show |
C7orf25 | ENSG00000136197.14 | transcript | ENST00000350427.5 | protein_coding | 1/1 | chr7 | TogoVar | ||||||
C7orf25_chr7_42904273_42917070 | 42911916 | G | A | splice_region_variant | LOW | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(232): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0001a0001c0001t0008a0001c0001t0010others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0017others(8): Show | 235 | 384 | 0.6120 | 0 | c.-23 others(3): Show |
C7orf25 | ENSG00000136197.14 | transcript | ENST00000350427.5 | protein_coding | 1/2 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1000467 | C | T | splice_region_variant others(1): Show |
LOW | HG01243.hp1 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0289a0001c0001t0003g0290 | 2 | 326 | 0.0061 | 0 | c.405 others(5): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 4/4 | chr7 | TogoVar | ||||||
C8A_chr1_56849797_56923223 | 56867710 | A | G | splice_region_variant others(1): Show |
LOW | HG03471.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0213 | 1 | 366 | 0.0027 | 0 | c.171 others(5): Show |
C8A | ENSG00000157131.12 | transcript | ENST00000361249.4 | protein_coding | 2/10 | chr1 | TogoVar | ||||||
C8A_chr1_56849797_56923223 | 56875101 | G | A | splice_region_variant others(1): Show |
LOW | HG02559.hp1 HG02572.hp2 HG02615.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0010a0002c0002 | a0001c0001t0001a0001c0010t0001a0002c0002t0001 | a0001c0001t0001g0038a0001c0010t0001g0231a0001c0010t0001g0263others(2): Show | 6 | 366 | 0.0164 | 0 | c.316 others(5): Show |
C8A | ENSG00000157131.12 | transcript | ENST00000361249.4 | protein_coding | 3/10 | chr1 | TogoVar | ||||||
C8A_chr1_56849797_56923223 | 56906790 | C | T | missense_variant others(1): Show |
MODERATE | HG01243.hp2 HG03098.hp2 |
a0014a0015 | a0014c0022a0015c0021 | a0014c0022t0002a0015c0021t0001 | a0014c0022t0002g0220a0015c0021t0001g0072 | 2 | 366 | 0.0055 | 0 | c.122 others(4): Show |
p.Thr others(6): Show |
C8A | ENSG00000157131.12 | transcript | ENST00000361249.4 | protein_coding | 8/11 | 1325/2367 | 1220/1755 | 407/584 | chr1 | TogoVar | ||
C8B_chr1_56924207_56971015 | 56943691 | C | G | splice_region_variant others(1): Show |
LOW | HG01256.hp1 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0062 | 2 | 402 | 0.0050 | 0 | c.123 others(6): Show |
C8B | ENSG00000021852.14 | transcript | ENST00000371237.9 | protein_coding | 8/11 | chr1 | TogoVar | ||||||
C8G_chr9_136940243_136951975 | 136946191 | C | T | splice_region_variant others(1): Show |
LOW | NA18990.hp2 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0001 | 1 | 416 | 0.0024 | 0 | c.453 others(3): Show |
p.Tyr others(6): Show |
C8G | ENSG00000176919.13 | transcript | ENST00000371634.7 | protein_coding | 4/7 | 531/881 | 453/609 | 151/202 | chr9 | TogoVar | ||
C8G_chr9_136940243_136951975 | 136946565 | C | T | splice_region_variant others(1): Show |
LOW | HG02886.hp2 HG02970.hp1 HG03579.hp2 others(1): Show |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0002a0001c0006t0001g0009a0001c0006t0001g0011 | 4 | 416 | 0.0096 | 0 | c.555 others(3): Show |
p.Tyr others(6): Show |
C8G | ENSG00000176919.13 | transcript | ENST00000371634.7 | protein_coding | 5/7 | 633/881 | 555/609 | 185/202 | chr9 | TogoVar | ||
C8G_chr9_136940243_136951975 | 136946760 | T | C | splice_region_variant others(1): Show |
LOW | HG00140.hp2 HG00733.hp2 HG01070.hp2 others(30): Show |
a0002a0004 | a0002c0003a0004c0005 | a0002c0003t0001a0004c0005t0001 | a0002c0003t0001g0003a0002c0003t0001g0007a0004c0005t0001g0003 | 33 | 416 | 0.0793 | 0 | c.596 others(5): Show |
C8G | ENSG00000176919.13 | transcript | ENST00000371634.7 | protein_coding | 6/6 | chr9 | TogoVar | ||||||
C8orf33_chr8_145047467_145061030 | 145053059 | C | T | splice_region_variant others(1): Show |
LOW | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0010 | 1 | 406 | 0.0025 | 0 | c.319 others(5): Show |
C8orf33 | ENSG00000182307.14 | transcript | ENST00000331434.7 | protein_coding | 2/4 | chr8 | TogoVar | ||||||
C8orf33_chr8_145047467_145061030 | 145054010 | C | A | splice_region_variant others(1): Show |
LOW | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 406 | 0.0025 | 0 | c.551 others(5): Show |
C8orf33 | ENSG00000182307.14 | transcript | ENST00000331434.7 | protein_coding | 4/4 | chr8 | TogoVar | ||||||
C8orf34_chr8_68325955_68824023 | 68468818 | G | A | missense_variant others(1): Show |
MODERATE | HG01106.hp2 | a0008 | a0008c0012 | a0008c0012t0001 | a0008c0012t0001g0078 | 1 | 128 | 0.0078 | 0 | c.734 others(3): Show |
p.Arg others(6): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 4/14 | 792/2452 | 734/1617 | 245/538 | chr8 | TogoVar | ||
C8orf58_chr8_22594599_22609142 | 22601714 | G | C | splice_region_variant others(1): Show |
LOW | HG04184.hp2 | a0001 | a0001c0009 | a0001c0009t0002 | a0001c0009t0002g0002 | 1 | 332 | 0.0030 | 0 | c.519 others(3): Show |
p.Val others(6): Show |
C8orf58 | ENSG00000241852.11 | transcript | ENST00000289989.10 | protein_coding | 3/7 | 641/2056 | 519/1098 | 173/365 | chr8 | TogoVar | ||
C8orf58_chr8_22594599_22609142 | 22602202 | G | A | missense_variant others(1): Show |
MODERATE | HG02258.hp1 HG02886.hp1 HG03579.hp1 others(1): Show |
a0003 | a0003c0005 | a0003c0005t0003 | a0003c0005t0003g0010 | 4 | 332 | 0.0121 | 0 | c.769 others(3): Show |
p.Ala others(6): Show |
C8orf58 | ENSG00000241852.11 | transcript | ENST00000289989.10 | protein_coding | 5/7 | 891/2056 | 769/1098 | 257/365 | chr8 | TogoVar | ||
C8orf74_chr8_10667628_10705590 | 10674845 | T | C | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(386): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0009a0001c0013others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(321): Show | 389 | 430 | 0.9047 | 0 | c.241 others(5): Show |
C8orf74 | ENSG00000171060.11 | transcript | ENST00000304519.10 | protein_coding | 2/3 | chr8 | TogoVar | ||||||
C8orf74_chr8_10667628_10705590 | 10697594 | T | C | splice_region_variant others(1): Show |
LOW | HG00408.hp2 HG00741.hp2 HG01884.hp1 others(85): Show |
a0001a0002a0004others(5): Show | a0001c0001a0002c0002a0002c0003others(10): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(11): Show | a0001c0001t0001g0049a0001c0001t0001g0290a0002c0002t0001g0016others(78): Show | 88 | 430 | 0.2047 | 0 | c.242 others(5): Show |
C8orf74 | ENSG00000171060.11 | transcript | ENST00000304519.10 | protein_coding | 2/3 | chr8 | TogoVar |