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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CARF_chr2_202907275_202993263 | 202986889 | T | TACATATA others(43): Show |
3_prime_UTR_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0074 | a0001c0001t0074g0057 | 1 | 334 | 0.0030 | 50 | c.*32 others(61): Show |
CARF | ENSG00000138380.18 | transcript | ENST00000438828.4 | protein_coding | 17/17 | 3267 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25313683 | G | GCATATAT others(43): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01074.hp2 HG02083.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0007a0001c0001t0015a0001c0002t0005others(5): Show | a0001c0001t0007g0141 a0001c0001t0015g0184 a0001c0002t0005g0157 others(5): Show |
8 | 186 | 0.0430 | 50 | c.138 others(69): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | chr6 | TogoVar | |||||||
CARMIL1_chr6_25274374_25625530 | 25450984 | C | CTCTCCCC others(43): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00673.hp1 HG03834.hp2 others(1): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0037others(1): Show | a0001c0001t0006a0001c0003t0003a0001c0037t0002others(1): Show | a0001c0001t0006g0061 a0001c0003t0003g0053 a0001c0037t0002g0083 others(1): Show |
4 | 186 | 0.0215 | 50 | c.614 others(65): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 8/36 | chr6 | TogoVar | |||||||
CARS2_chr13_110636417_110711116 | 110641504 | T | TGTCGTGA others(43): Show |
3_prime_UTR_variant | MODIFIER | HG02622.hp1 | a0004 | a0004c0012 | a0004c0012t0004 | a0004c0012t0004g0262 | 1 | 372 | 0.0027 | 50 | c.*32 others(57): Show |
CARS2 | ENSG00000134905.17 | transcript | ENST00000257347.9 | protein_coding | 15/15 | 32 | chr13 | TogoVar | ||||||
CASC3_chr17_40135537_40177171 | 40140375 | C | CACACACA others(43): Show |
upstream_gene_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0243 | 1 | 266 | 0.0038 | 50 | c.-17 others(59): Show |
CASC3 | ENSG00000108349.17 | transcript | ENST00000264645.12 | protein_coding | 161 | chr17 | TogoVar | |||||||
CASP8_chr2_201255536_201292709 | 201283070 | C | CGGGGCGG others(43): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0261 | 1 | 386 | 0.0026 | 50 | c.803 others(67): Show |
CASP8 | ENSG00000064012.24 | transcript | ENST00000673742.1 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CASP8_chr2_201255536_201292709 | 201283070 | C | CGGGGCGG others(43): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0064 | 1 | 386 | 0.0026 | 50 | c.803 others(67): Show |
CASP8 | ENSG00000064012.24 | transcript | ENST00000673742.1 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CASP8_chr2_201255536_201292709 | 201283070 | C | CGGGGGCG others(43): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0206 | 1 | 386 | 0.0026 | 50 | c.803 others(67): Show |
CASP8 | ENSG00000064012.24 | transcript | ENST00000673742.1 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CASP8_chr2_201255536_201292709 | 201283087 | C | CGGGGGGC others(43): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0252 | 1 | 386 | 0.0026 | 50 | c.803 others(67): Show |
CASP8 | ENSG00000064012.24 | transcript | ENST00000673742.1 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CASR_chr3_122178668_122296629 | 122252409 | A | AGGAAGGA others(43): Show |
intron_variant | MODIFIER | HG02523.hp2 NA18945.hp2 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0026 | a0002c0002t0002g0234 a0002c0002t0026g0246 |
2 | 314 | 0.0064 | 50 | c.-24 others(69): Show |
CASR | ENSG00000036828.17 | transcript | ENST00000639785.2 | protein_coding | 1/6 | chr3 | TogoVar | |||||||
CASTOR2_chr7_74959705_75036528 | 74965882 | A | ACACACAC others(43): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0084 | a0001c0001t0084g0012 | 1 | 228 | 0.0044 | 50 | c.113 others(65): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CASTOR2_chr7_74959705_75036528 | 74965882 | A | ACACACAC others(43): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0020 | 1 | 228 | 0.0044 | 50 | c.113 others(65): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CASTOR2_chr7_74959705_75036528 | 74965882 | A | ACACACTC others(43): Show |
intron_variant | MODIFIER | HG02155.hp1 HG02559.hp1 HG03654.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0016a0001c0001t0017 | a0001c0001t0001g0083 a0001c0001t0016g0084 a0001c0001t0017g0082 |
3 | 228 | 0.0132 | 50 | c.113 others(65): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CASTOR2_chr7_74959705_75036528 | 74965882 | A | ACACTCAC others(43): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 228 | 0.0044 | 50 | c.113 others(65): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CASTOR2_chr7_74959705_75036528 | 74965885 | C | CACTCTCT others(43): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00733.hp2 HG01993.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(1): Show | a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0002g0131 others(2): Show |
5 | 228 | 0.0219 | 50 | c.113 others(65): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 1/8 | chr7 | TogoVar | |||||||
CASTOR2_chr7_74959705_75036528 | 74965905 | C | CTCTCTCT others(43): Show |
intron_variant | MODIFIER | HG02083.hp2 NA18974.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0184 a0001c0001t0006g0182 |
2 | 228 | 0.0088 | 50 | c.113 others(65): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CATSPERG_chr19_38330830_38375943 | 38338942 | C | CAGGTCGG others(43): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0223 | 1 | 376 | 0.0027 | 50 | c.324 others(67): Show |
CATSPERG | ENSG00000099338.23 | transcript | ENST00000409235.8 | protein_coding | 3/28 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CATSPERG_chr19_38330830_38375943 | 38344661 | C | CCATACCT others(43): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00733.hp1 HG02109.hp1 others(2): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0007t0001g0196 others(2): Show |
5 | 376 | 0.0133 | 50 | c.669 others(65): Show |
CATSPERG | ENSG00000099338.23 | transcript | ENST00000409235.8 | protein_coding | 6/28 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CBX1_chr17_48065059_48106478 | 48095800 | G | GAGGTACT others(43): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0347 | 1 | 396 | 0.0025 | 50 | c.-38 others(67): Show |
CBX1 | ENSG00000108468.15 | transcript | ENST00000225603.9 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
CCBE1_chr18_59425939_59702423 | 59547072 | G | GGGGACAG others(43): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0153 | 1 | 242 | 0.0041 | 50 | c.213 others(69): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 2/10 | chr18 | TogoVar | |||||||
CCBE1_chr18_59425939_59702423 | 59573284 | A | AATATATA others(43): Show |
intron_variant | MODIFIER | HG00597.hp1 HG02559.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 a0001c0001t0001g0131 |
2 | 242 | 0.0083 | 50 | c.213 others(69): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 2/10 | chr18 | TogoVar | |||||||
CCDC105_chr19_15005726_15028276 | 15018732 | A | ATATATAT others(43): Show |
intron_variant | MODIFIER | HG01516.hp2 HG01517.hp1 HG01978.hp2 others(10): Show |
a0001a0005a0008others(1): Show | a0001c0001a0001c0004a0005c0005others(2): Show | a0001c0001t0001a0001c0004t0001a0005c0005t0001others(2): Show | a0001c0001t0001g0039 a0001c0004t0001g0014 a0001c0004t0001g0060 others(8): Show |
13 | 440 | 0.0296 | 50 | c.676 others(67): Show |
CCDC105 | ENSG00000160994.4 | transcript | ENST00000292574.4 | protein_coding | 2/6 | chr19 | TogoVar | |||||||
CCDC13_chr3_42700756_42778253 | 42743600 | T | TATATATA others(43): Show |
intron_variant | MODIFIER | NA18964.hp1 NA18971.hp1 NA19070.hp2 |
a0004 | a0004c0004 | a0004c0004t0004 | a0004c0004t0004g0012 a0004c0004t0004g0178 |
3 | 320 | 0.0094 | 50 | c.826 others(65): Show |
CCDC13 | ENSG00000244607.7 | transcript | ENST00000310232.11 | protein_coding | 7/15 | chr3 | TogoVar | |||||||
CCDC13_chr3_42700756_42778253 | 42743600 | T | TATATATA others(43): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0004 | a0004c0004 | a0004c0004t0004 | a0004c0004t0004g0162 | 1 | 320 | 0.0031 | 50 | c.826 others(65): Show |
CCDC13 | ENSG00000244607.7 | transcript | ENST00000310232.11 | protein_coding | 7/15 | chr3 | TogoVar | |||||||
CCDC13_chr3_42700756_42778253 | 42743600 | T | TATATATA others(43): Show |
intron_variant | MODIFIER | NA18961.hp2 | a0004 | a0004c0004 | a0004c0004t0004 | a0004c0004t0004g0174 | 1 | 320 | 0.0031 | 50 | c.826 others(65): Show |
CCDC13 | ENSG00000244607.7 | transcript | ENST00000310232.11 | protein_coding | 7/15 | chr3 | TogoVar | |||||||
CCDC13_chr3_42700756_42778253 | 42743600 | T | TATATATA others(43): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00673.hp1 HG01123.hp2 others(14): Show |
a0004a0016 | a0004c0004a0016c0023 | a0004c0004t0004a0004c0004t0013a0016c0023t0004 | a0004c0004t0004g0166 a0004c0004t0004g0167 a0004c0004t0004g0168 others(14): Show |
17 | 320 | 0.0531 | 50 | c.826 others(65): Show |
CCDC13 | ENSG00000244607.7 | transcript | ENST00000310232.11 | protein_coding | 7/15 | chr3 | TogoVar | |||||||
CCDC149_chr4_24798514_24918042 | 24906364 | A | AATTTTAT others(43): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01496.hp2 HG02040.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0274 a0001c0001t0002g0142 a0001c0001t0002g0293 others(10): Show |
13 | 354 | 0.0367 | 50 | c.48+ others(65): Show |
CCDC149 | ENSG00000181982.20 | transcript | ENST00000635206.3 | protein_coding | 1/12 | chr4 | TogoVar | |||||||
CCDC149_chr4_24798514_24918042 | 24906364 | A | AATTTTAT others(43): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02572.hp1 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0012a0001c0001t0074 | a0001c0001t0002g0026 a0001c0001t0012g0027 a0001c0001t0074g0311 |
3 | 354 | 0.0085 | 50 | c.48+ others(65): Show |
CCDC149 | ENSG00000181982.20 | transcript | ENST00000635206.3 | protein_coding | 1/12 | chr4 | TogoVar | |||||||
CCDC152_chr5_42751818_42807439 | 42755286 | T | TGTATATA others(43): Show |
upstream_gene_variant | MODIFIER | HG02738.hp2 HG03654.hp1 NA19090.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0045 a0001c0001t0002g0171 a0001c0001t0002g0182 |
3 | 348 | 0.0086 | 50 | c.-16 others(61): Show |
CCDC152 | ENSG00000198865.10 | transcript | ENST00000361970.10 | protein_coding | 1531 | chr5 | TogoVar | |||||||
CCDC152_chr5_42751818_42807439 | 42755286 | T | TGTGTATA others(43): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG00642.hp2 HG03490.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0049 a0001c0001t0002g0052 a0001c0001t0002g0161 others(1): Show |
5 | 348 | 0.0144 | 50 | c.-16 others(61): Show |
CCDC152 | ENSG00000198865.10 | transcript | ENST00000361970.10 | protein_coding | 1531 | chr5 | TogoVar | |||||||
CCDC152_chr5_42751818_42807439 | 42755294 | T | TATATATA others(43): Show |
upstream_gene_variant | MODIFIER | NA19089.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 348 | 0.0029 | 50 | c.-15 others(61): Show |
CCDC152 | ENSG00000198865.10 | transcript | ENST00000361970.10 | protein_coding | 1523 | chr5 | TogoVar | |||||||
CCDC152_chr5_42751818_42807439 | 42755298 | T | TATATATG others(43): Show |
upstream_gene_variant | MODIFIER | NA18970.hp1 NA19080.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0176 a0001c0001t0002g0180 |
2 | 348 | 0.0058 | 50 | c.-15 others(61): Show |
CCDC152 | ENSG00000198865.10 | transcript | ENST00000361970.10 | protein_coding | 1519 | chr5 | TogoVar | |||||||
CCDC152_chr5_42751818_42807439 | 42755298 | T | TATATATG others(43): Show |
upstream_gene_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0173 | 1 | 348 | 0.0029 | 50 | c.-15 others(61): Show |
CCDC152 | ENSG00000198865.10 | transcript | ENST00000361970.10 | protein_coding | 1519 | chr5 | TogoVar | |||||||
CCDC178_chr18_32932406_33445721 | 33379100 | T | TATATATA others(43): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0031 | 1 | 58 | 0.0172 | 50 | c.209 others(67): Show |
CCDC178 | ENSG00000166960.17 | transcript | ENST00000383096.8 | protein_coding | 5/22 | chr18 | TogoVar | |||||||
CCDC187_chr9_136244973_136309094 | 136259212 | A | AACCAAGA others(43): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG00597.hp1 others(41): Show |
a0001a0002a0003others(18): Show | a0001c0002a0001c0012a0002c0001others(20): Show | a0001c0002t0001a0001c0002t0103a0001c0012t0001others(28): Show | a0001c0002t0001g0235 a0001c0002t0001g0241 a0001c0002t0001g0247 others(41): Show |
44 | 400 | 0.1100 | 50 | c.429 others(67): Show |
CCDC187 | ENSG00000260220.7 | transcript | ENST00000638797.2 | protein_coding | 21/25 | chr9 | TogoVar | |||||||
CCDC187_chr9_136244973_136309094 | 136259302 | G | GGGGGGAG others(43): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00423.hp1 others(56): Show |
a0001a0002a0003others(26): Show | a0001c0002a0001c0012a0001c0113others(32): Show | a0001c0002t0002a0001c0012t0002a0001c0012t0044others(42): Show | a0001c0002t0002g0064 a0001c0012t0002g0157 a0001c0012t0044g0186 others(55): Show |
59 | 400 | 0.1475 | 50 | c.429 others(65): Show |
CCDC187 | ENSG00000260220.7 | transcript | ENST00000638797.2 | protein_coding | 21/25 | chr9 | TogoVar | |||||||
CCDC188_chr22_20143416_20156055 | 20155877 | T | TCCAGTTG others(43): Show |
upstream_gene_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0015 | 1 | 408 | 0.0025 | 50 | c.-48 others(61): Show |
CCDC188 | ENSG00000234409.7 | transcript | ENST00000439765.4 | protein_coding | 4823 | chr22 | TogoVar | |||||||
CCDC192_chr5_127698391_127946507 | 127921087 | A | AGAAAGGA others(43): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 234 | 0.0043 | 50 | c.536 others(69): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CCDC192_chr5_127698391_127946507 | 127942529 | G | GTTAGAAA others(43): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 234 | 0.0043 | 50 | c.*10 others(61): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 1023 | chr5 | TogoVar | |||||||
CCDC200_chr17_43216420_43233623 | 43225680 | G | GTATATAT others(43): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0231 | 1 | 334 | 0.0030 | 50 | c.106 others(67): Show |
CCDC200 | ENSG00000236383.9 | transcript | ENST00000636331.2 | protein_coding | 1/3 | chr17 | TogoVar | |||||||
CCDC200_chr17_43216420_43233623 | 43225693 | T | TATATATA others(43): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01069.hp2 HG01123.hp1 others(8): Show |
a0001a0003 | a0001c0002a0003c0005 | a0001c0002t0001a0003c0005t0001 | a0001c0002t0001g0050 a0001c0002t0001g0132 a0001c0002t0001g0134 others(8): Show |
11 | 334 | 0.0329 | 50 | c.106 others(67): Show |
CCDC200 | ENSG00000236383.9 | transcript | ENST00000636331.2 | protein_coding | 1/3 | chr17 | TogoVar | |||||||
CCDC60_chr12_119329729_119546040 | 119397839 | G | GGGGGAGG others(43): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0138 | 1 | 256 | 0.0039 | 50 | c.91- others(67): Show |
CCDC60 | ENSG00000183273.7 | transcript | ENST00000327554.3 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CCDC60_chr12_119329729_119546040 | 119398083 | C | CGGGGGGA others(43): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02723.hp1 HG03225.hp1 others(1): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0005 | a0001c0001t0007a0002c0002t0001a0005c0005t0003 | a0001c0001t0007g0016 a0002c0002t0001g0001 a0005c0005t0003g0009 others(1): Show |
4 | 256 | 0.0156 | 50 | c.91- others(67): Show |
CCDC60 | ENSG00000183273.7 | transcript | ENST00000327554.3 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CCDC60_chr12_119329729_119546040 | 119398083 | C | CGGGGGGA others(43): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(50): Show |
a0001a0002a0004others(3): Show | a0001c0001a0002c0002a0002c0007others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0014 a0001c0001t0001g0079 a0001c0001t0001g0080 others(50): Show |
53 | 256 | 0.2070 | 50 | c.91- others(67): Show |
CCDC60 | ENSG00000183273.7 | transcript | ENST00000327554.3 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CCDC66_chr3_56552175_56626837 | 56556842 | G | GGGGTGTG others(43): Show |
upstream_gene_variant | MODIFIER | NA18992.hp2 | a0005 | a0005c0006 | a0005c0006t0002 | a0005c0006t0002g0290 | 1 | 372 | 0.0027 | 50 | c.-40 others(59): Show |
CCDC66 | ENSG00000180376.17 | transcript | ENST00000394672.8 | protein_coding | 332 | chr3 | TogoVar | |||||||
CCDC77_chr12_396644_447642 | 415271 | T | TATTAACA others(43): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0408 | 1 | 432 | 0.0023 | 50 | c.271 others(67): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CCDC77_chr12_396644_447642 | 415274 | T | TAACATAA others(43): Show |
intron_variant | MODIFIER | HG02451.hp1 NA19004.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0407 a0001c0001t0006g0396 |
2 | 432 | 0.0046 | 50 | c.271 others(67): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CCDC7_chr10_32441140_32887864 | 32443315 | G | GATAAACC others(43): Show |
upstream_gene_variant | MODIFIER | HG00558.hp2 HG00597.hp2 HG00609.hp1 others(70): Show |
a0001a0006a0008others(1): Show | a0001c0002a0006c0019a0008c0010others(1): Show | a0001c0002t0001a0006c0019t0001a0008c0010t0001others(1): Show | a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 others(70): Show |
73 | 368 | 0.1984 | 50 | c.-31 others(61): Show |
CCDC7 | ENSG00000216937.14 | transcript | ENST00000639629.2 | protein_coding | 2824 | chr10 | TogoVar | |||||||
CCDC7_chr10_32441140_32887864 | 32443315 | G | GATAAACG others(43): Show |
upstream_gene_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0164 | 1 | 368 | 0.0027 | 50 | c.-31 others(61): Show |
CCDC7 | ENSG00000216937.14 | transcript | ENST00000639629.2 | protein_coding | 2824 | chr10 | TogoVar | |||||||
CCDC7_chr10_32441140_32887864 | 32443359 | C | CCTTCACA others(43): Show |
upstream_gene_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0137 | 1 | 368 | 0.0027 | 50 | c.-30 others(61): Show |
CCDC7 | ENSG00000216937.14 | transcript | ENST00000639629.2 | protein_coding | 2780 | chr10 | TogoVar |