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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CAPRIN1_chr11_34046731_34107610 | 34079905 | G | GTTTTTTG others(33): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0022 | 1 | 169 | 0.0059 | 40 | c.826 others(55): Show |
CAPRIN1 | ENSG00000135387.21 | transcript | ENST00000341394.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CAPZB_chr1_19333775_19490539 | 19366283 | A | AATATATA others(33): Show |
intron_variant | MODIFIER | HG01256.hp2 HG02055.hp2 HG02809.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0001 | a0001c0001t0001g0120 a0001c0001t0001g0208 a0001c0001t0001g0222 others(5): Show |
8 | 202 | 0.0396 | 40 | c.330 others(57): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 4/8 | chr1 | TogoVar | |||||||
CARD11_chr7_2901142_3048867 | 2913168 | A | AGAGGGAA others(33): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00597.hp2 HG02145.hp1 others(4): Show |
a0001 | a0001c0001a0001c0004a0001c0009others(1): Show | a0001c0001t0001a0001c0004t0001a0001c0009t0002others(1): Show | a0001c0001t0001g0076 a0001c0001t0001g0154 a0001c0001t0001g0212 others(4): Show |
7 | 218 | 0.0321 | 40 | c.301 others(56): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 22/24 | chr7 | TogoVar | |||||||
CARD14_chr17_80165030_80214331 | 80165033 | C | CATTTTAT others(33): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG03710.hp1 HG04184.hp2 others(1): Show |
a0001a0002a0005 | a0001c0025a0002c0002a0005c0004 | a0001c0025t0004a0002c0002t0001a0005c0004t0001 | a0001c0025t0004g0014 a0001c0025t0004g0015 a0002c0002t0001g0027 others(1): Show |
4 | 134 | 0.0299 | 40 | c.-57 others(51): Show |
CARD14 | ENSG00000141527.19 | transcript | ENST00000648509.2 | protein_coding | 4996 | chr17 | TogoVar | |||||||
CARM1_chr19_10866553_10928075 | 10906861 | C | CTTTATTT others(33): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0324 | 1 | 96 | 0.0104 | 40 | c.347 others(57): Show |
CARM1 | ENSG00000142453.13 | transcript | ENST00000327064.9 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CARMIL1_chr6_25274374_25625530 | 25313683 | G | GCATATAT others(33): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01361.hp1 HG02135.hp2 others(4): Show |
a0001a0003a0005 | a0001c0001a0001c0004a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0004t0004others(4): Show | a0001c0001t0001g0084 a0001c0001t0003g0076 a0001c0004t0004g0034 others(4): Show |
7 | 116 | 0.0603 | 40 | c.138 others(59): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | chr6 | TogoVar | |||||||
CARMIL1_chr6_25274374_25625530 | 25393037 | C | CATGGTGA others(33): Show |
intron_variant | MODIFIER | HG03490.hp1 HG03492.hp1 |
a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0062 a0001c0004t0004g0064 |
2 | 184 | 0.0109 | 40 | c.139 others(59): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CARMIL1_chr6_25274374_25625530 | 25450980 | T | TCCTCTCC others(33): Show |
intron_variant | MODIFIER | HG02970.hp2 HG03654.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0008a0001c0006t0002 | a0001c0001t0008g0014 a0001c0006t0002g0030 |
2 | 142 | 0.0141 | 40 | c.614 others(55): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 8/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CARS1_chr11_2995929_3062423 | 3031996 | T | TTCCTTCC others(33): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0276 | 1 | 268 | 0.0037 | 40 | c.802 others(57): Show |
CARS1 | ENSG00000110619.18 | transcript | ENST00000380525.9 | protein_coding | 7/22 | chr11 | TogoVar | |||||||
CARS2_chr13_110636417_110711116 | 110679591 | G | GAGAGAGA others(33): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0186 | 1 | 369 | 0.0027 | 40 | c.656 others(57): Show |
CARS2 | ENSG00000134905.17 | transcript | ENST00000257347.9 | protein_coding | 6/14 | chr13 | TogoVar | |||||||
CASR_chr3_122178668_122296629 | 122252407 | G | GTAGGAAG others(33): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01261.hp1 HG02717.hp1 others(4): Show |
a0001a0004 | a0001c0001a0004c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0144 a0001c0001t0003g0015 a0001c0001t0003g0026 others(3): Show |
7 | 236 | 0.0297 | 40 | c.-24 others(59): Show |
CASR | ENSG00000036828.17 | transcript | ENST00000639785.2 | protein_coding | 1/6 | chr3 | TogoVar | |||||||
CASR_chr3_122178668_122296629 | 122252409 | A | AGGAAAAA others(33): Show |
intron_variant | MODIFIER | HG00642.hp1 HG02922.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0031 | a0001c0001t0001g0145 a0001c0001t0003g0023 a0001c0001t0031g0146 |
3 | 41 | 0.0732 | 40 | c.-24 others(59): Show |
CASR | ENSG00000036828.17 | transcript | ENST00000639785.2 | protein_coding | 1/6 | chr3 | TogoVar | |||||||
CASR_chr3_122178668_122296629 | 122252409 | A | AGGAAGGA others(33): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0102 | 1 | 39 | 0.0256 | 40 | c.-24 others(59): Show |
CASR | ENSG00000036828.17 | transcript | ENST00000639785.2 | protein_coding | 1/6 | chr3 | TogoVar | |||||||
CASR_chr3_122178668_122296629 | 122252409 | A | AGGAAGGA others(33): Show |
intron_variant | MODIFIER | NA18966.hp1 NA18966.hp2 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0016 | a0002c0002t0002g0211 a0002c0002t0016g0085 |
2 | 40 | 0.0500 | 40 | c.-24 others(59): Show |
CASR | ENSG00000036828.17 | transcript | ENST00000639785.2 | protein_coding | 1/6 | chr3 | TogoVar | |||||||
CASR_chr3_122178668_122296629 | 122252409 | A | AGGAAGGT others(33): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02615.hp2 HG02809.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0003a0001c0001t0006a0003c0005t0015 | a0001c0001t0003g0111 a0001c0001t0003g0114 a0001c0001t0006g0105 others(2): Show |
5 | 43 | 0.1163 | 40 | c.-24 others(59): Show |
CASR | ENSG00000036828.17 | transcript | ENST00000639785.2 | protein_coding | 1/6 | chr3 | TogoVar | |||||||
CASR_chr3_122178668_122296629 | 122252409 | A | AGGTAGGA others(33): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01361.hp2 HG01516.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(2): Show | a0001c0001t0001g0018 a0001c0001t0005g0182 a0001c0001t0007g0139 others(4): Show |
7 | 45 | 0.1556 | 40 | c.-24 others(59): Show |
CASR | ENSG00000036828.17 | transcript | ENST00000639785.2 | protein_coding | 1/6 | chr3 | TogoVar | |||||||
CASTOR2_chr7_74959705_75036528 | 74965882 | A | ACACACAC others(33): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0045 | 1 | 87 | 0.0115 | 40 | c.113 others(55): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CASTOR2_chr7_74959705_75036528 | 74965905 | C | CTCTCTCT others(33): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 | 1 | 77 | 0.0130 | 40 | c.113 others(55): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CASTOR2_chr7_74959705_75036528 | 74966010 | C | CCGAGGGG others(33): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0075 | 1 | 226 | 0.0044 | 40 | c.113 others(55): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CASZ1_chr1_10631604_10801646 | 10785135 | T | TCTTTCCT others(33): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG02055.hp2 others(14): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0014a0001c0002t0001a0001c0002t0007others(11): Show | a0001c0001t0014g0224 a0001c0002t0001g0065 a0001c0002t0007g0060 others(14): Show |
17 | 130 | 0.1308 | 40 | c.-23 others(61): Show |
CASZ1 | ENSG00000130940.15 | transcript | ENST00000377022.8 | protein_coding | 1/20 | chr1 | TogoVar | |||||||
CASZ1_chr1_10631604_10801646 | 10785135 | T | TCTTTCCT others(33): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0002 | a0001c0002t0029 | a0001c0002t0029g0032 | 1 | 114 | 0.0088 | 40 | c.-23 others(61): Show |
CASZ1 | ENSG00000130940.15 | transcript | ENST00000377022.8 | protein_coding | 1/20 | chr1 | TogoVar | |||||||
CATSPER3_chr5_134962907_135016696 | 135009569 | T | TGTGCCTG others(33): Show |
intron_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 18 | 0.0556 | 40 | c.936 others(53): Show |
CATSPER3 | ENSG00000152705.8 | transcript | ENST00000282611.8 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CATSPER4_chr1_26185602_26207964 | 26206481 | A | AAAAGAAA others(33): Show |
downstream_gene_variant | MODIFIER | HG01981.hp2 HG02056.hp2 HG02280.hp1 others(9): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0002a0002c0002t0002a0003c0004t0001 | a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0042 others(8): Show |
12 | 204 | 0.0588 | 40 | c.*39 others(51): Show |
CATSPER4 | ENSG00000188782.9 | transcript | ENST00000456354.7 | protein_coding | 3518 | chr1 | TogoVar | |||||||
CATSPERD_chr19_5715637_5783734 | 5762058 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | NA18942.hp2 NA20805.hp2 |
a0001a0004 | a0001c0001a0004c0003 | a0001c0001t0001a0004c0003t0001 | a0001c0001t0001g0006 a0004c0003t0001g0180 |
2 | 47 | 0.0426 | 40 | c.142 others(59): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CATSPERD_chr19_5715637_5783734 | 5762058 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | HG02015.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0290 | 1 | 46 | 0.0217 | 40 | c.142 others(59): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CAV1_chr7_116520036_116566179 | 116534395 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | HG01175.hp1 NA18971.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0138 a0001c0001t0003g0133 |
2 | 120 | 0.0167 | 40 | c.195 others(57): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33536556 | T | TAGGGGCT others(33): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00738.hp2 HG01070.hp2 others(34): Show |
a0001a0002 | a0001c0001a0002c0009 | a0001c0001t0004a0001c0001t0007a0001c0001t0011others(2): Show | a0001c0001t0004g0017 a0001c0001t0004g0018 a0001c0001t0004g0019 others(34): Show |
37 | 296 | 0.1250 | 40 | c.34+ others(57): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33545010 | T | TAGAACAG others(33): Show |
intron_variant | MODIFIER | HG02486.hp2 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0011 | a0001c0001t0004g0291 a0001c0001t0011g0062 |
2 | 236 | 0.0085 | 40 | c.34+ others(57): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFA2T3_chr16_88869858_88982207 | 88893225 | C | CCACACAC others(33): Show |
intron_variant | MODIFIER | HG02145.hp1 HG03540.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0002 | a0001c0001t0001g0111 a0001c0003t0002g0252 |
2 | 282 | 0.0071 | 40 | c.380 others(55): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 3/11 | chr16 | TogoVar | |||||||
CBL_chr11_119201339_119313149 | 119283625 | C | CTTTTTTT others(33): Show |
intron_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0157 | 1 | 32 | 0.0313 | 40 | c.143 others(59): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CBR1_chr21_36065024_36078164 | 36071781 | T | TGAAAAAA others(33): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0030 | 1 | 428 | 0.0023 | 40 | c.398 others(55): Show |
CBR1 | ENSG00000159228.13 | transcript | ENST00000290349.11 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
CC2D1A_chr19_13901201_13935879 | 13926065 | T | TATATATA others(33): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02965.hp1 NA20300.hp1 |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0011 | 3 | 302 | 0.0099 | 40 | c.194 others(57): Show |
CC2D1A | ENSG00000132024.18 | transcript | ENST00000318003.11 | protein_coding | 17/28 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CCAR2_chr8_22599757_22625471 | 22611404 | G | GTGTGTGT others(33): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0127 | 1 | 353 | 0.0028 | 40 | c.585 others(57): Show |
CCAR2 | ENSG00000158941.17 | transcript | ENST00000308511.9 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CCBE1_chr18_59425939_59702423 | 59573284 | A | AATATATA others(33): Show |
intron_variant | MODIFIER | HG00140.hp2 HG02738.hp2 HG03209.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0135 a0001c0001t0003g0035 a0001c0001t0003g0099 others(3): Show |
6 | 40 | 0.1500 | 40 | c.213 others(59): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 2/10 | chr18 | TogoVar | |||||||
CCDC105_chr19_15005726_15028276 | 15018715 | A | AATATATA others(33): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 249 | 0.0040 | 40 | c.676 others(57): Show |
CCDC105 | ENSG00000160994.4 | transcript | ENST00000292574.4 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CCDC105_chr19_15005726_15028276 | 15018732 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01192.hp2 HG01361.hp1 others(5): Show |
a0001a0012 | a0001c0001a0001c0004a0012c0017 | a0001c0001t0001a0001c0004t0001a0012c0017t0001 | a0001c0001t0001g0048 a0001c0001t0001g0119 a0001c0001t0001g0174 others(4): Show |
8 | 303 | 0.0264 | 40 | c.676 others(57): Show |
CCDC105 | ENSG00000160994.4 | transcript | ENST00000292574.4 | protein_coding | 2/6 | chr19 | TogoVar | |||||||
CCDC110_chr4_185440182_185476733 | 185443342 | A | ATATATAT others(33): Show |
downstream_gene_variant | MODIFIER | HG04199.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0152 | 1 | 63 | 0.0159 | 40 | c.*21 others(51): Show |
CCDC110 | ENSG00000168491.10 | transcript | ENST00000307588.8 | protein_coding | 1839 | chr4 | TogoVar | |||||||
CCDC12_chr3_46916730_46981745 | 46951798 | A | AAAAAAAA others(33): Show |
intron_variant | MODIFIER | HG02486.hp1 HG03669.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0311 a0001c0001t0002g0206 |
2 | 44 | 0.0455 | 40 | c.97- others(57): Show |
CCDC12 | ENSG00000160799.12 | transcript | ENST00000683445.1 | protein_coding | 1/6 | chr3 | TogoVar | |||||||
CCDC12_chr3_46916730_46981745 | 46951798 | A | AAAAAAAA others(33): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0203 | 1 | 43 | 0.0233 | 40 | c.97- others(57): Show |
CCDC12 | ENSG00000160799.12 | transcript | ENST00000683445.1 | protein_coding | 1/6 | chr3 | TogoVar | |||||||
CCDC136_chr7_128786968_128827130 | 128796739 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | NA18945.hp2 NA18968.hp2 NA19000.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0200 |
3 | 294 | 0.0102 | 40 | c.346 others(57): Show |
CCDC136 | ENSG00000128596.17 | transcript | ENST00000297788.9 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CCDC136_chr7_128786968_128827130 | 128796739 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | HG00544.hp1 HG03239.hp2 HG03834.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0038 a0001c0001t0002g0178 |
3 | 294 | 0.0102 | 40 | c.346 others(57): Show |
CCDC136 | ENSG00000128596.17 | transcript | ENST00000297788.9 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CCDC136_chr7_128786968_128827130 | 128796739 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0184 | 1 | 292 | 0.0034 | 40 | c.346 others(57): Show |
CCDC136 | ENSG00000128596.17 | transcript | ENST00000297788.9 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CCDC136_chr7_128786968_128827130 | 128796739 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | HG03017.hp2 NA18948.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0040 a0001c0001t0002g0205 |
3 | 294 | 0.0102 | 40 | c.346 others(57): Show |
CCDC136 | ENSG00000128596.17 | transcript | ENST00000297788.9 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CCDC13_chr3_42700756_42778253 | 42743600 | T | TATATATA others(33): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0008 | a0001c0008t0016 | a0001c0008t0016g0297 | 1 | 199 | 0.0050 | 40 | c.826 others(55): Show |
CCDC13 | ENSG00000244607.7 | transcript | ENST00000310232.11 | protein_coding | 7/15 | chr3 | TogoVar | |||||||
CCDC144A_chr17_16685241_16782881 | 16729991 | T | TATATATA others(33): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0284 | 1 | 300 | 0.0033 | 40 | c.210 others(59): Show |
CCDC144A | ENSG00000170160.19 | transcript | ENST00000399273.5 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CCDC148_chr2_158166073_158461753 | 158433091 | A | AAAAAAAA others(33): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0024 | 1 | 66 | 0.0152 | 40 | c.25+ others(57): Show |
CCDC148 | ENSG00000153237.19 | transcript | ENST00000283233.10 | protein_coding | 1/13 | chr2 | TogoVar | |||||||
CCDC148_chr2_158166073_158461753 | 158433261 | A | AATATATA others(33): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 201 | 0.0050 | 40 | c.25+ others(57): Show |
CCDC148 | ENSG00000153237.19 | transcript | ENST00000283233.10 | protein_coding | 1/13 | chr2 | TogoVar | |||||||
CCDC149_chr4_24798514_24918042 | 24906364 | A | AATTTTAT others(33): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01257.hp2 HG01943.hp1 others(12): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(9): Show | a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0287 others(12): Show |
15 | 132 | 0.1136 | 40 | c.48+ others(55): Show |
CCDC149 | ENSG00000181982.20 | transcript | ENST00000635206.3 | protein_coding | 1/12 | chr4 | TogoVar | |||||||
CCDC149_chr4_24798514_24918042 | 24906364 | A | AATTTTAT others(33): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01358.hp1 HG02735.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0028 | a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 others(5): Show |
8 | 125 | 0.0640 | 40 | c.48+ others(55): Show |
CCDC149 | ENSG00000181982.20 | transcript | ENST00000635206.3 | protein_coding | 1/12 | chr4 | TogoVar | |||||||
CCDC149_chr4_24798514_24918042 | 24906364 | A | AATTTTAT others(33): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02886.hp2 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0020 | a0001c0001t0007g0260 a0001c0001t0020g0261 a0001c0001t0020g0262 |
3 | 120 | 0.0250 | 40 | c.48+ others(55): Show |
CCDC149 | ENSG00000181982.20 | transcript | ENST00000635206.3 | protein_coding | 1/12 | chr4 | TogoVar |