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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CCDC169_chr13_36225775_36302814 | 36230776 | G | A | splice_region_variant | LOW | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0104 | 1 | 364 | 0.0028 | 0 | c.*41 others(4): Show |
CCDC169 | ENSG00000242715.8 | transcript | ENST00000239859.8 | protein_coding | 8/8 | chr13 | TogoVar | ||||||
CCDC169_chr13_36225775_36302814 | 36248606 | G | A | missense_variant others(1): Show |
MODERATE | HG02257.hp2 HG02559.hp2 |
a0003 | a0003c0006 | a0003c0006t0002 | a0003c0006t0002g0049a0003c0006t0002g0050 | 2 | 364 | 0.0055 | 0 | c.545 others(3): Show |
p.Thr others(6): Show |
CCDC169 | ENSG00000242715.8 | transcript | ENST00000239859.8 | protein_coding | 7/8 | 640/1158 | 545/645 | 182/214 | chr13 | TogoVar | ||
CCDC170_chr6_151489017_151626193 | 151593286 | A | G | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(212): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0005a0001c0032others(30): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(93): Show | a0001c0001t0002g0012a0001c0001t0002g0067a0001c0001t0002g0072others(212): Show | 215 | 320 | 0.6719 | 0 | c.146 others(6): Show |
CCDC170 | ENSG00000120262.10 | transcript | ENST00000239374.8 | protein_coding | 8/10 | chr6 | TogoVar | ||||||
CCDC171_chr9_15548043_15979037 | 15744268 | C | T | splice_region_variant others(1): Show |
LOW | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0181 | 1 | 266 | 0.0038 | 0 | c.205 others(6): Show |
CCDC171 | ENSG00000164989.17 | transcript | ENST00000380701.8 | protein_coding | 16/25 | chr9 | TogoVar | ||||||
CCDC175_chr14_59500067_59581812 | 59563867 | G | C | splice_region_variant others(1): Show |
LOW | NA18970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 294 | 0.0034 | 0 | c.721 others(5): Show |
CCDC175 | ENSG00000151838.12 | transcript | ENST00000537690.7 | protein_coding | 5/19 | chr14 | TogoVar | ||||||
CCDC175_chr14_59500067_59581812 | 59565278 | G | A | splice_region_variant others(1): Show |
LOW | HG00408.hp2 HG00423.hp2 HG00544.hp1 others(114): Show |
a0001a0004a0009others(1): Show | a0001c0001a0001c0022a0004c0006others(2): Show | a0001c0001t0001a0001c0022t0001a0004c0006t0001others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0007others(105): Show | 117 | 294 | 0.3980 | 0 | c.492 others(5): Show |
CCDC175 | ENSG00000151838.12 | transcript | ENST00000537690.7 | protein_coding | 4/19 | chr14 | TogoVar | ||||||
CCDC175_chr14_59500067_59581812 | 59575031 | G | GA | splice_region_variant others(1): Show |
LOW | HG00140.hp2 HG00408.hp1 HG00544.hp2 others(115): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0004a0002c0002others(9): Show | a0001c0001t0001a0001c0004t0001a0002c0002t0001others(9): Show | a0001c0001t0001g0135a0001c0001t0001g0178a0001c0001t0001g0179others(109): Show | 118 | 294 | 0.4014 | 1 | c.158 others(6): Show |
CCDC175 | ENSG00000151838.12 | transcript | ENST00000537690.7 | protein_coding | 1/19 | chr14 | TogoVar | ||||||
CCDC178_chr18_32932406_33445721 | 33245432 | T | C | splice_region_variant others(1): Show |
LOW | HG02145.hp2 HG02897.hp2 HG03098.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0009a0002c0002t0002g0010a0002c0002t0002g0011others(2): Show | 5 | 58 | 0.0862 | 0 | c.141 others(6): Show |
CCDC178 | ENSG00000166960.17 | transcript | ENST00000383096.8 | protein_coding | 14/22 | chr18 | TogoVar | ||||||
CCDC179_chr11_22841922_22865474 | 22857917 | C | T | splice_region_variant others(1): Show |
LOW | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 446 | 0.0022 | 0 | c.195 others(5): Show |
CCDC179 | ENSG00000255359.3 | transcript | ENST00000532798.3 | protein_coding | 3/3 | chr11 | TogoVar | ||||||
CCDC17_chr1_45615044_45629054 | 45623553 | C | G | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(290): Show |
a0001a0003a0004others(10): Show | a0001c0001a0001c0005a0001c0006others(13): Show | a0001c0001t0001a0001c0005t0001a0001c0006t0001others(14): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(22): Show | 293 | 434 | 0.6751 | 0 | c.270 others(5): Show |
CCDC17 | ENSG00000159588.15 | transcript | ENST00000528266.6 | protein_coding | 2/12 | chr1 | TogoVar | ||||||
CCDC17_chr1_45615044_45629054 | 45623729 | C | T | splice_region_variant others(1): Show |
LOW | HG00544.hp1 NA18959.hp1 |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0011 | 2 | 434 | 0.0046 | 0 | c.174 others(5): Show |
CCDC17 | ENSG00000159588.15 | transcript | ENST00000528266.6 | protein_coding | 1/12 | chr1 | TogoVar | ||||||
CCDC180_chr9_97302659_97383751 | 97314614 | G | A | splice_region_variant others(1): Show |
LOW | HG00280.hp2 HG00323.hp2 HG00438.hp1 others(69): Show |
a0001a0003a0005others(5): Show | a0001c0001a0003c0003a0005c0006others(5): Show | a0001c0001t0001a0003c0003t0003a0003c0003t0013others(10): Show | a0001c0001t0001g0014a0001c0001t0001g0039a0001c0001t0001g0052others(64): Show | 72 | 364 | 0.1978 | 0 | c.589 others(5): Show |
CCDC180 | ENSG00000197816.16 | transcript | ENST00000529487.3 | protein_coding | 6/36 | chr9 | TogoVar | ||||||
CCDC180_chr9_97302659_97383751 | 97318588 | G | A | splice_region_variant others(1): Show |
LOW | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 364 | 0.0028 | 0 | c.107 others(6): Show |
CCDC180 | ENSG00000197816.16 | transcript | ENST00000529487.3 | protein_coding | 10/36 | chr9 | TogoVar | ||||||
CCDC180_chr9_97302659_97383751 | 97362448 | C | T | splice_region_variant others(1): Show |
LOW | HG01952.hp2 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0104 | 1 | 364 | 0.0028 | 0 | c.390 others(6): Show |
CCDC180 | ENSG00000197816.16 | transcript | ENST00000529487.3 | protein_coding | 28/36 | chr9 | TogoVar | ||||||
CCDC186_chr10_114115862_114179203 | 114131342 | T | C | splice_region_variant others(1): Show |
LOW | NA19240.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0041 | 1 | 278 | 0.0036 | 0 | c.191 others(6): Show |
CCDC186 | ENSG00000165813.20 | transcript | ENST00000369287.8 | protein_coding | 11/15 | chr10 | TogoVar | ||||||
CCDC186_chr10_114115862_114179203 | 114137180 | G | A | splice_region_variant others(1): Show |
LOW | NA18992.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 278 | 0.0036 | 0 | c.132 others(6): Show |
CCDC186 | ENSG00000165813.20 | transcript | ENST00000369287.8 | protein_coding | 7/15 | chr10 | TogoVar | ||||||
CCDC186_chr10_114115862_114179203 | 114157684 | A | C | splice_region_variant others(1): Show |
LOW | NA19087.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0123 | 1 | 278 | 0.0036 | 0 | c.633 others(5): Show |
CCDC186 | ENSG00000165813.20 | transcript | ENST00000369287.8 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
CCDC187_chr9_136244973_136309094 | 136255731 | G | A | missense_variant others(1): Show |
MODERATE | HG01516.hp1 HG01517.hp1 HG02738.hp2 others(2): Show |
a0054a0111a0148others(1): Show | a0054c0033a0111c0070a0148c0125others(1): Show | a0054c0033t0014a0111c0070t0014a0148c0125t0054others(1): Show | a0054c0033t0014g0198a0054c0033t0014g0199a0111c0070t0014g0049others(2): Show | 5 | 400 | 0.0125 | 0 | c.461 others(4): Show |
p.Thr others(7): Show |
CCDC187 | ENSG00000260220.7 | transcript | ENST00000638797.2 | protein_coding | 25/26 | 4883/10119 | 4619/6234 | 1540/2077 | chr9 | TogoVar | ||
CCDC187_chr9_136244973_136309094 | 136256698 | G | A | splice_region_variant others(1): Show |
LOW | HG02165.hp2 HG03831.hp2 NA18970.hp2 others(2): Show |
a0034a0075a0128 | a0034c0019a0075c0212a0128c0163 | a0034c0019t0022a0075c0212t0045a0128c0163t0045 | a0034c0019t0022g0119a0034c0019t0022g0132a0034c0019t0022g0210others(2): Show | 5 | 400 | 0.0125 | 0 | c.450 others(6): Show |
CCDC187 | ENSG00000260220.7 | transcript | ENST00000638797.2 | protein_coding | 23/25 | chr9 | TogoVar | ||||||
CCDC187_chr9_136244973_136309094 | 136259363 | G | A | splice_region_variant others(1): Show |
LOW | HG00323.hp1 HG00438.hp1 HG00544.hp2 others(60): Show |
a0006a0008a0010others(27): Show | a0006c0006a0006c0183a0008c0007others(33): Show | a0006c0006t0006a0006c0006t0012a0006c0006t0026others(53): Show | a0006c0006t0006g0068a0006c0006t0006g0129a0006c0006t0012g0253others(60): Show | 63 | 400 | 0.1575 | 0 | c.429 others(4): Show |
p.Pro others(7): Show |
CCDC187 | ENSG00000260220.7 | transcript | ENST00000638797.2 | protein_coding | 21/26 | 4560/10119 | 4296/6234 | 1432/2077 | chr9 | TogoVar | ||
CCDC187_chr9_136244973_136309094 | 136262465 | G | A | splice_region_variant others(1): Show |
LOW | HG01346.hp1 | a0031 | a0031c0095 | a0031c0095t0010 | a0031c0095t0010g0094 | 1 | 400 | 0.0025 | 0 | c.391 others(6): Show |
CCDC187 | ENSG00000260220.7 | transcript | ENST00000638797.2 | protein_coding | 18/25 | chr9 | TogoVar | ||||||
CCDC187_chr9_136244973_136309094 | 136263616 | A | T | splice_region_variant others(1): Show |
LOW | HG00735.hp2 HG00738.hp1 HG00738.hp2 others(34): Show |
a0007a0009a0013others(9): Show | a0007c0014a0007c0047a0007c0118others(17): Show | a0007c0014t0003a0007c0014t0019a0007c0047t0056others(25): Show | a0007c0014t0003g0149a0007c0014t0003g0281a0007c0014t0019g0007others(32): Show | 37 | 400 | 0.0925 | 0 | c.391 others(6): Show |
CCDC187 | ENSG00000260220.7 | transcript | ENST00000638797.2 | protein_coding | 18/25 | chr9 | TogoVar | ||||||
CCDC187_chr9_136244973_136309094 | 136274658 | C | A | stop_gained others(1): Show |
HIGH | HG00423.hp2 HG01516.hp1 HG01517.hp1 others(3): Show |
a0054a0113a0122others(2): Show | a0054c0033a0113c0071a0122c0158others(2): Show | a0054c0033t0014a0113c0071t0137a0122c0158t0001others(2): Show | a0054c0033t0014g0198a0054c0033t0014g0199a0113c0071t0137g0026others(3): Show | 6 | 400 | 0.0150 | 0 | c.344 others(4): Show |
p.Glu others(5): Show |
CCDC187 | ENSG00000260220.7 | transcript | ENST00000638797.2 | protein_coding | 14/26 | 3706/10119 | 3442/6234 | 1148/2077 | chr9 | TogoVar | ||
CCDC187_chr9_136244973_136309094 | 136274875 | G | A | splice_region_variant others(1): Show |
LOW | HG00735.hp2 HG02723.hp1 |
a0045a0159 | a0045c0030a0159c0101 | a0045c0030t0003a0159c0101t0067 | a0045c0030t0003g0054a0159c0101t0067g0213 | 2 | 400 | 0.0050 | 0 | c.335 others(6): Show |
CCDC187 | ENSG00000260220.7 | transcript | ENST00000638797.2 | protein_coding | 13/25 | chr9 | TogoVar | ||||||
CCDC187_chr9_136244973_136309094 | 136290480 | A | G | splice_region_variant others(1): Show |
LOW | HG01255.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0070 | 1 | 400 | 0.0025 | 0 | c.212 others(6): Show |
CCDC187 | ENSG00000260220.7 | transcript | ENST00000638797.2 | protein_coding | 6/25 | chr9 | TogoVar | ||||||
CCDC187_chr9_136244973_136309094 | 136297715 | T | A | missense_variant others(1): Show |
MODERATE | HG00438.hp2 HG01074.hp1 HG02015.hp2 others(29): Show |
a0006a0014a0050others(14): Show | a0006c0006a0006c0183a0014c0059others(16): Show | a0006c0006t0006a0006c0006t0012a0006c0006t0026others(24): Show | a0006c0006t0006g0068a0006c0006t0006g0129a0006c0006t0012g0253others(28): Show | 32 | 400 | 0.0800 | 0 | c.831 others(3): Show |
p.Glu others(6): Show |
CCDC187 | ENSG00000260220.7 | transcript | ENST00000638797.2 | protein_coding | 4/26 | 1095/10119 | 831/6234 | 277/2077 | chr9 | TogoVar | ||
CCDC187_chr9_136244973_136309094 | 136300325 | CAG | C | splice_region_variant others(1): Show |
LOW | HG02647.hp1 HG02922.hp1 HG03098.hp1 |
a0068a0070a0187 | a0068c0062a0070c0063a0187c0182 | a0068c0062t0066a0070c0063t0138a0187c0182t0052 | a0068c0062t0066g0024a0070c0063t0138g0023a0187c0182t0052g0012 | 3 | 400 | 0.0075 | -2 | c.626 others(13): Show |
CCDC187 | ENSG00000260220.7 | transcript | ENST00000638797.2 | protein_coding | 2/25 | chr9 | TogoVar | ||||||
CCDC188_chr22_20143416_20156055 | 20148808 | C | T | splice_region_variant others(1): Show |
LOW | HG01069.hp2 HG02015.hp2 HG02027.hp1 others(16): Show |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0008a0001c0003t0003g0015a0001c0003t0003g0023 | 19 | 408 | 0.0466 | 0 | c.102 others(6): Show |
CCDC188 | ENSG00000234409.7 | transcript | ENST00000439765.4 | protein_coding | 8/8 | chr22 | TogoVar | ||||||
CCDC188_chr22_20143416_20156055 | 20148929 | C | T | splice_region_variant others(1): Show |
LOW | HG02622.hp2 HG03453.hp2 HG03540.hp1 |
a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0017 | 3 | 408 | 0.0074 | 0 | c.973 others(5): Show |
CCDC188 | ENSG00000234409.7 | transcript | ENST00000439765.4 | protein_coding | 7/8 | chr22 | TogoVar | ||||||
CCDC188_chr22_20143416_20156055 | 20149405 | G | T | splice_region_variant others(1): Show |
LOW | NA18940.hp1 NA18953.hp2 NA18983.hp2 others(2): Show |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0009 | 5 | 408 | 0.0123 | 0 | c.914 others(5): Show |
CCDC188 | ENSG00000234409.7 | transcript | ENST00000439765.4 | protein_coding | 6/8 | chr22 | TogoVar | ||||||
CCDC191_chr3_113959137_114061526 | 114056378 | T | C | missense_variant others(1): Show |
MODERATE | NA18986.hp1 NA19006.hp2 |
a0007 | a0007c0013 | a0007c0013t0001 | a0007c0013t0001g0366a0007c0013t0001g0367 | 2 | 380 | 0.0053 | 0 | c.89A others(2): Show |
p.Lys others(5): Show |
CCDC191 | ENSG00000163617.11 | transcript | ENST00000295878.8 | protein_coding | 1/17 | 149/3889 | 89/2811 | 30/936 | chr3 | TogoVar | ||
CCDC192_chr5_127698391_127946507 | 127875520 | AT | A | splice_region_variant others(1): Show |
LOW | HG00642.hp1 HG01884.hp1 HG02258.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0004a0001c0001t0001g0014a0001c0001t0001g0049others(11): Show | 14 | 234 | 0.0598 | -1 | c.412 others(6): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CCDC192_chr5_127698391_127946507 | 127875520 | ATT | A | splice_region_variant others(1): Show |
LOW | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(152): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(152): Show | 155 | 234 | 0.6624 | -2 | c.412 others(13): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CCDC196_chr14_66481371_66503553 | 66486816 | G | A | splice_region_variant others(1): Show |
LOW | HG00323.hp1 HG00408.hp1 HG00423.hp2 others(175): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(40): Show | 178 | 364 | 0.4890 | 0 | c.203 others(5): Show |
CCDC196 | ENSG00000196553.15 | transcript | ENST00000636229.1 | protein_coding | 2/9 | chr14 | TogoVar | ||||||
CCDC196_chr14_66481371_66503553 | 66488255 | T | C | missense_variant others(1): Show |
MODERATE | HG01346.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0069 | 1 | 364 | 0.0028 | 0 | c.299 others(3): Show |
p.Leu others(6): Show |
CCDC196 | ENSG00000196553.15 | transcript | ENST00000636229.1 | protein_coding | 3/10 | 431/1107 | 299/894 | 100/297 | chr14 | TogoVar | ||
CCDC196_chr14_66481371_66503553 | 66488263 | A | G | splice_region_variant others(1): Show |
LOW | HG01346.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0069 | 1 | 364 | 0.0028 | 0 | c.300 others(5): Show |
CCDC196 | ENSG00000196553.15 | transcript | ENST00000636229.1 | protein_coding | 3/9 | chr14 | TogoVar | ||||||
CCDC196_chr14_66481371_66503553 | 66498104 | C | T | splice_region_variant others(1): Show |
LOW | HG02109.hp2 HG02257.hp1 HG02280.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013a0001c0001t0001g0020 | 6 | 364 | 0.0165 | 0 | c.716 others(5): Show |
CCDC196 | ENSG00000196553.15 | transcript | ENST00000636229.1 | protein_coding | 8/9 | chr14 | TogoVar | ||||||
CCDC196_chr14_66481371_66503553 | 66498170 | G | A | splice_region_variant others(1): Show |
LOW | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 364 | 0.0028 | 0 | c.774 others(5): Show |
CCDC196 | ENSG00000196553.15 | transcript | ENST00000636229.1 | protein_coding | 9/9 | chr14 | TogoVar | ||||||
CCDC197_chr14_93992301_94013863 | 93998001 | G | T | splice_region_variant | LOW | HG01261.hp1 HG01884.hp1 HG02280.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0018a0001c0001t0004g0030a0001c0001t0004g0148 | 8 | 393 | 0.0204 | 0 | c.-13 others(4): Show |
CCDC197 | ENSG00000175699.15 | transcript | ENST00000636493.2 | protein_coding | 2/7 | chr14 | TogoVar | ||||||
CCDC198_chr14_57464300_57498857 | 57481551 | G | C | splice_region_variant others(1): Show |
LOW | NA19064.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 362 | 0.0028 | 0 | c.495 others(5): Show |
CCDC198 | ENSG00000100557.10 | transcript | ENST00000216445.8 | protein_coding | 4/5 | chr14 | TogoVar | ||||||
CCDC200_chr17_43216420_43233623 | 43221602 | G | A | splice_region_variant others(1): Show |
LOW | HG02451.hp1 HG02809.hp1 NA19086.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0002c0003t0002 | a0001c0001t0002g0198a0002c0003t0002g0025 | 3 | 334 | 0.0090 | 0 | c.481 others(5): Show |
CCDC200 | ENSG00000236383.9 | transcript | ENST00000636331.2 | protein_coding | 3/3 | chr17 | TogoVar | ||||||
CCDC200_chr17_43216420_43233623 | 43221603 | A | G | splice_region_variant others(1): Show |
LOW | NA19086.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0198 | 1 | 334 | 0.0030 | 0 | c.481 others(5): Show |
CCDC200 | ENSG00000236383.9 | transcript | ENST00000636331.2 | protein_coding | 3/3 | chr17 | TogoVar | ||||||
CCDC22_chrX_49230470_49255520 | 49248184 | C | T | splice_region_variant others(1): Show |
LOW | HG03491.hp2 HG03492.hp1 HG03834.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0013a0001c0002t0001g0149 | 4 | 296 | 0.0135 | 0 | c.109 others(6): Show |
CCDC22 | ENSG00000101997.13 | transcript | ENST00000376227.4 | protein_coding | 9/16 | chrX | TogoVar | ||||||
CCDC22_chrX_49230470_49255520 | 49249162 | GC | G | splice_region_variant others(1): Show |
LOW | NA18962.hp1 | a0009 | a0009c0009 | a0009c0009t0001 | a0009c0009t0001g0078 | 1 | 296 | 0.0034 | -1 | c.154 others(7): Show |
CCDC22 | ENSG00000101997.13 | transcript | ENST00000376227.4 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CCDC27_chr1_3747450_3776645 | 3754240 | T | A | stop_gained others(1): Show |
HIGH | NA18952.hp1 | a0033 | a0033c0031 | a0033c0031t0001 | a0033c0031t0001g0210 | 1 | 428 | 0.0023 | 0 | c.441 others(3): Show |
p.Cys others(4): Show |
CCDC27 | ENSG00000162592.10 | transcript | ENST00000294600.7 | protein_coding | 2/12 | 473/2125 | 441/1971 | 147/656 | chr1 | TogoVar | ||
CCDC28B_chr1_32195595_32210387 | 32204188 | A | G | missense_variant others(1): Show |
MODERATE | HG02015.hp2 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0002 | 1 | 416 | 0.0024 | 0 | c.334 others(3): Show |
p.Lys others(6): Show |
CCDC28B | ENSG00000160050.16 | transcript | ENST00000373602.10 | protein_coding | 4/6 | 472/880 | 334/603 | 112/200 | chr1 | TogoVar | ||
CCDC30_chr1_42458286_42662190 | 42644815 | G | A | splice_region_variant others(1): Show |
LOW | NA18966.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 324 | 0.0031 | 0 | c.235 others(6): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 18/20 | chr1 | TogoVar | ||||||
CCDC32_chr15_40548099_40570042 | 40557209 | C | T | splice_region_variant others(1): Show |
LOW | HG00280.hp2 HG00408.hp1 HG00423.hp2 others(177): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(25): Show | a0001c0001t0003g0004a0001c0001t0003g0019a0001c0001t0003g0028others(99): Show | 180 | 400 | 0.4500 | 0 | c.401 others(5): Show |
CCDC32 | ENSG00000128891.17 | transcript | ENST00000416810.7 | protein_coding | 3/3 | chr15 | TogoVar | ||||||
CCDC38_chr12_95862048_95947614 | 95872257 | T | C | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00408.hp2 HG00438.hp2 others(51): Show |
a0001a0002 | a0001c0008a0002c0004 | a0001c0008t0001a0002c0004t0001a0002c0004t0002others(2): Show | a0001c0008t0001g0015a0001c0008t0001g0017a0001c0008t0001g0018others(50): Show | 54 | 350 | 0.1543 | 0 | c.148 others(4): Show |
p.Gln others(6): Show |
CCDC38 | ENSG00000165972.13 | transcript | ENST00000344280.8 | protein_coding | 14/16 | 1680/1918 | 1482/1692 | 494/563 | chr12 | TogoVar | ||
CCDC39_chr3_180609008_180684489 | 180616275 | G | A | splice_region_variant others(1): Show |
LOW | HG03209.hp2 HG03471.hp1 |
a0001a0004 | a0001c0002a0004c0019 | a0001c0002t0004a0004c0019t0004 | a0001c0002t0004g0185a0004c0019t0004g0135 | 2 | 254 | 0.0079 | 0 | c.266 others(6): Show |
CCDC39 | ENSG00000284862.3 | transcript | ENST00000476379.6 | protein_coding | 19/19 | chr3 | TogoVar |