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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CAPN2_chr1_223707539_223781018 | 223741421 | GTATATAT others(16): Show |
G | intron_variant | MODIFIER | HG02486.hp2 HG03209.hp1 |
a0001a0006 | a0001c0002a0006c0014 | a0001c0002t0001a0006c0014t0001 | a0001c0002t0001g0082 a0006c0014t0001g0309 |
2 | 273 | 0.0073 | -23 | c.308 others(40): Show |
CAPN2 | ENSG00000162909.18 | transcript | ENST00000295006.6 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPN9_chr1_230742388_230806989 | 230751586 | AAAGAAAG others(16): Show |
A | intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 392 | 0.0026 | -23 | c.214 others(40): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPRIN1_chr11_34046731_34107610 | 34103733 | CACAAAAA others(16): Show |
C | downstream_gene_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0040 | 1 | 218 | 0.0046 | -23 | c.*43 others(34): Show |
CAPRIN1 | ENSG00000135387.21 | transcript | ENST00000341394.9 | protein_coding | 1124 | chr11 | TogoVar | |||||||
CAPS2_chr12_75270979_75335324 | 75311701 | AAAAAAAA others(16): Show |
A | intron_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0253 | 1 | 364 | 0.0027 | -23 | c.545 others(40): Show |
CAPS2 | ENSG00000180881.21 | transcript | ENST00000699294.1 | protein_coding | 7/16 | chr12 | TogoVar | |||||||
CAPS2_chr12_75270979_75335324 | 75334533 | TTGTGGAA others(16): Show |
T | upstream_gene_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0044 | 1 | 368 | 0.0027 | -23 | c.-47 others(34): Show |
CAPS2 | ENSG00000180881.21 | transcript | ENST00000699294.1 | protein_coding | 4210 | chr12 | TogoVar | |||||||
CAPZA2_chr7_116857587_116927049 | 116880696 | CTTTTTTT others(16): Show |
C | intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0294 | 1 | 4 | 0.2500 | -23 | c.40- others(38): Show |
CAPZA2 | ENSG00000198898.16 | transcript | ENST00000361183.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAPZB_chr1_19333775_19490539 | 19471865 | CAAAAAAA others(16): Show |
C | intron_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 258 | 0.0039 | -23 | c.3+1 others(38): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
CARD14_chr17_80165030_80214331 | 80175952 | GTTTTTTT others(16): Show |
G | intron_variant | MODIFIER | HG02451.hp1 | a0021 | a0021c0036 | a0021c0036t0011 | a0021c0036t0011g0058 | 1 | 30 | 0.0333 | -23 | c.-36 others(42): Show |
CARD14 | ENSG00000141527.19 | transcript | ENST00000648509.2 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CARD19_chr9_93091217_93118283 | 93096273 | GGCGGCTG others(16): Show |
G | 5_prime_UTR_variant | MODIFIER | HG01175.hp2 HG03710.hp2 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0019 a0001c0002t0004g0047 |
2 | 356 | 0.0056 | -23 | c.-67 others(30): Show |
CARD19 | ENSG00000165233.18 | transcript | ENST00000375464.7 | protein_coding | 1/6 | 45 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CARF_chr2_202907275_202993263 | 202916806 | GGCCCAAG others(16): Show |
G | intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 HG02040.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0112 others(6): Show |
9 | 332 | 0.0271 | -23 | c.-32 others(42): Show |
CARF | ENSG00000138380.18 | transcript | ENST00000438828.4 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CARM1_chr19_10866553_10928075 | 10868104 | TGGAGTCT others(16): Show |
T | upstream_gene_variant | MODIFIER | NA18972.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0018 | 1 | 349 | 0.0029 | -23 | c.-35 others(34): Show |
CARM1 | ENSG00000142453.13 | transcript | ENST00000327064.9 | protein_coding | 3448 | chr19 | TogoVar | |||||||
CARMIL1_chr6_25274374_25625530 | 25442618 | ATAGATAA others(16): Show |
A | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0014 | 1 | 184 | 0.0054 | -23 | c.371 others(40): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CARMIL1_chr6_25274374_25625530 | 25450779 | CCCTCCCT others(16): Show |
C | intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0005 | 1 | 89 | 0.0112 | -23 | c.614 others(36): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 8/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CASTOR2_chr7_74959705_75036528 | 75008247 | CTTCTGGA others(16): Show |
C | intron_variant | MODIFIER | HG01433.hp2 HG02258.hp2 HG02572.hp2 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0009a0001c0001t0029others(4): Show | a0001c0001t0001g0059 a0001c0001t0001g0102 a0001c0001t0009g0012 others(6): Show |
9 | 226 | 0.0398 | -23 | c.184 others(38): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAST_chr5_96657376_96779683 | 96752550 | ATAACCTC others(16): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG03540.hp1 |
a0001a0006 | a0001c0001a0006c0010 | a0001c0001t0002a0006c0010t0014 | a0001c0001t0002g0038 a0006c0010t0014g0131 |
2 | 72 | 0.0278 | -23 | c.152 others(42): Show |
CAST | ENSG00000153113.24 | transcript | ENST00000675179.1 | protein_coding | 20/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CATSPERD_chr19_5715637_5783734 | 5751197 | CAAAAAAA others(16): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02615.hp2 |
a0001a0003 | a0001c0001a0003c0043 | a0001c0001t0002a0003c0043t0001 | a0001c0001t0002g0293 a0003c0043t0001g0204 |
2 | 13 | 0.1538 | -23 | c.988 others(38): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 11/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CAV1_chr7_116520036_116566179 | 116555515 | AGAAAGAG others(16): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG01109.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0077 others(7): Show |
10 | 331 | 0.0302 | -23 | c.196 others(40): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | chr7 | TogoVar | |||||||
CAV1_chr7_116520036_116566179 | 116555519 | AGAGAGAG others(16): Show |
A | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0048 | 1 | 292 | 0.0034 | -23 | c.196 others(40): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | chr7 | TogoVar | |||||||
CAVIN1_chr17_42397449_42428256 | 42413558 | CAAAAAGG others(16): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG01192.hp1 HG02738.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0025a0001c0001t0026 | a0001c0001t0007g0004 a0001c0001t0007g0083 a0001c0001t0007g0084 others(5): Show |
11 | 330 | 0.0333 | -23 | c.472 others(40): Show |
CAVIN1 | ENSG00000177469.13 | transcript | ENST00000357037.6 | protein_coding | 1/1 | chr17 | TogoVar | |||||||
CBX1_chr17_48065059_48106478 | 48080936 | AAAAAAAA others(16): Show |
A | intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0114 | 1 | 394 | 0.0025 | -23 | c.-37 others(40): Show |
CBX1 | ENSG00000108468.15 | transcript | ENST00000225603.9 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
CBX1_chr17_48065059_48106478 | 48080950 | AAATATAT others(16): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG01123.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0033 a0001c0001t0002g0036 |
2 | 360 | 0.0056 | -23 | c.-37 others(40): Show |
CBX1 | ENSG00000108468.15 | transcript | ENST00000225603.9 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
CBX1_chr17_48065059_48106478 | 48080952 | ATATATAT others(16): Show |
A | intron_variant | MODIFIER | HG00733.hp2 HG04204.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0037 a0001c0001t0002g0038 |
2 | 361 | 0.0055 | -23 | c.-37 others(40): Show |
CBX1 | ENSG00000108468.15 | transcript | ENST00000225603.9 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
CC2D1A_chr19_13901201_13935879 | 13924215 | GGCTGGAG others(16): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00642.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 a0001c0001t0001g0110 |
2 | 368 | 0.0054 | -23 | c.194 others(40): Show |
CC2D1A | ENSG00000132024.18 | transcript | ENST00000318003.11 | protein_coding | 17/28 | chr19 | TogoVar | |||||||
CC2D2B_chr10_95902975_96038745 | 95947103 | ATATATAT others(16): Show |
A | intron_variant | MODIFIER | HG01361.hp2 HG01934.hp1 HG01952.hp1 others(28): Show |
a0004a0008a0018others(1): Show | a0004c0004a0004c0023a0008c0011others(2): Show | a0004c0004t0001a0004c0004t0002a0004c0023t0007others(4): Show | a0004c0004t0001g0043 a0004c0004t0001g0064 a0004c0004t0001g0147 others(28): Show |
31 | 310 | 0.1000 | -23 | c.802 others(40): Show |
CC2D2B | ENSG00000188649.16 | transcript | ENST00000646931.3 | protein_coding | 9/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CCBE1_chr18_59425939_59702423 | 59583686 | CGCGCGCG others(16): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG02273.hp1 NA20129.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007 | a0001c0001t0001g0051 a0001c0001t0001g0089 a0001c0001t0002g0063 others(1): Show |
4 | 204 | 0.0196 | -23 | c.213 others(44): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 2/10 | chr18 | TogoVar | |||||||
CCBE1_chr18_59425939_59702423 | 59658345 | AAAAAAAA others(16): Show |
A | intron_variant | MODIFIER | HG01496.hp2 HG01517.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0242 a0001c0001t0004g0134 |
2 | 234 | 0.0085 | -23 | c.212 others(42): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 2/10 | chr18 | TogoVar | |||||||
CCBE1_chr18_59425939_59702423 | 59658349 | AAAAAAAT others(16): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG03942.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0115 a0001c0001t0010g0143 |
2 | 234 | 0.0085 | -23 | c.212 others(42): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 2/10 | chr18 | TogoVar | |||||||
CCBE1_chr18_59425939_59702423 | 59658351 | AAAAATAT others(16): Show |
A | intron_variant | MODIFIER | HG03139.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0058 | a0001c0001t0009g0150 a0001c0001t0058g0006 |
2 | 234 | 0.0085 | -23 | c.212 others(42): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 2/10 | chr18 | TogoVar | |||||||
CCBE1_chr18_59425939_59702423 | 59658355 | ATATATAT others(16): Show |
A | intron_variant | MODIFIER | HG00621.hp2 HG04204.hp2 |
a0001a0006 | a0001c0001a0006c0004 | a0001c0001t0008a0006c0004t0001 | a0001c0001t0008g0054 a0006c0004t0001g0013 |
2 | 192 | 0.0104 | -23 | c.212 others(42): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 2/10 | chr18 | TogoVar | |||||||
CCDC102B_chr18_68793080_69060189 | 68869049 | TATCAGCC others(16): Show |
T | intron_variant | MODIFIER | HG02896.hp1 HG02896.hp2 HG02897.hp1 others(4): Show |
a0001a0004a0025 | a0001c0001a0004c0006a0025c0027 | a0001c0001t0001a0004c0006t0001a0025c0027t0001 | a0001c0001t0001g0017 a0001c0001t0001g0148 a0001c0001t0001g0151 others(4): Show |
7 | 214 | 0.0327 | -23 | c.937 others(40): Show |
CCDC102B | ENSG00000150636.17 | transcript | ENST00000360242.9 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CCDC102B_chr18_68793080_69060189 | 68905791 | TTTTTTTT others(16): Show |
T | intron_variant | MODIFIER | HG02486.hp1 | a0013 | a0013c0016 | a0013c0016t0001 | a0013c0016t0001g0020 | 1 | 214 | 0.0047 | -23 | c.126 others(42): Show |
CCDC102B | ENSG00000150636.17 | transcript | ENST00000360242.9 | protein_coding | 6/7 | chr18 | TogoVar | |||||||
CCDC110_chr4_185440182_185476733 | 185443921 | CTTTTTTT others(16): Show |
C | downstream_gene_variant | MODIFIER | HG02698.hp2 HG02738.hp2 NA18942.hp2 others(8): Show |
a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0009 a0002c0005t0001g0010 a0002c0005t0001g0043 others(4): Show |
11 | 16 | 0.6875 | -23 | c.*15 others(34): Show |
CCDC110 | ENSG00000168491.10 | transcript | ENST00000307588.8 | protein_coding | 1260 | chr4 | TogoVar | |||||||
CCDC112_chr5_115262190_115301654 | 115298253 | CAAAAAAA others(16): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp2 others(43): Show |
a0001a0007 | a0001c0001a0007c0012 | a0001c0001t0001a0007c0012t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0010 others(11): Show |
46 | 50 | 0.9200 | -23 | c.-17 others(34): Show |
CCDC112 | ENSG00000164221.13 | transcript | ENST00000379611.10 | protein_coding | 1600 | chr5 | TogoVar | |||||||
CCDC113_chr16_58244936_58288836 | 58248915 | ATGCCCCT others(16): Show |
A | upstream_gene_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 376 | 0.0027 | -23 | c.-10 others(34): Show |
CCDC113 | ENSG00000103021.10 | transcript | ENST00000219299.8 | protein_coding | 1020 | chr16 | TogoVar | |||||||
CCDC113_chr16_58244936_58288836 | 58266391 | ATATATAT others(16): Show |
A | intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 375 | 0.0027 | -23 | c.784 others(40): Show |
CCDC113 | ENSG00000103021.10 | transcript | ENST00000219299.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CCDC126_chr7_23592382_23649708 | 23597848 | CGGGCGGA others(16): Show |
C | intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0358 | 1 | 378 | 0.0026 | -23 | c.-23 others(39): Show |
CCDC126 | ENSG00000169193.12 | transcript | ENST00000307471.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CCDC12_chr3_46916730_46981745 | 46979967 | CGCGCCCC others(16): Show |
C | upstream_gene_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 351 | 0.0028 | -23 | c.-32 others(34): Show |
CCDC12 | ENSG00000160799.12 | transcript | ENST00000683445.1 | protein_coding | 3223 | chr3 | TogoVar | |||||||
CCDC141_chr2_178824757_179055137 | 178941958 | CAAAAAAA others(16): Show |
C | intron_variant | MODIFIER | HG00621.hp1 HG00642.hp2 HG00733.hp2 others(27): Show |
a0001a0002a0004others(4): Show | a0001c0001a0002c0003a0004c0005others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(18): Show | a0001c0001t0001g0052 a0001c0001t0001g0115 a0001c0001t0002g0042 others(27): Show |
30 | 36 | 0.8333 | -23 | c.897 others(40): Show |
CCDC141 | ENSG00000163492.16 | transcript | ENST00000443758.7 | protein_coding | 6/23 | chr2 | TogoVar | |||||||
CCDC141_chr2_178824757_179055137 | 179015095 | TATATATA others(16): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00639.hp1 others(12): Show |
a0001a0004a0010others(2): Show | a0001c0001a0001c0002a0001c0007others(5): Show | a0001c0001t0001a0001c0001t0057a0001c0001t0071others(10): Show | a0001c0001t0001g0187 a0001c0001t0001g0216 a0001c0001t0057g0153 others(12): Show |
15 | 235 | 0.0638 | -23 | c.225 others(42): Show |
CCDC141 | ENSG00000163492.16 | transcript | ENST00000443758.7 | protein_coding | 2/23 | chr2 | TogoVar | |||||||
CCDC146_chr7_77117615_77300204 | 77142395 | TATGTATA others(16): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG00609.hp2 others(14): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0002c0009others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(3): Show | a0001c0001t0001g0230 a0001c0001t0001g0240 a0001c0001t0001g0243 others(14): Show |
17 | 246 | 0.0691 | -23 | c.-12 others(42): Show |
CCDC146 | ENSG00000135205.15 | transcript | ENST00000285871.5 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CCDC158_chr4_76308039_76426141 | 76319454 | AAAAAAAA others(16): Show |
A | intron_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193 | 1 | 346 | 0.0029 | -23 | c.327 others(42): Show |
CCDC158 | ENSG00000163749.18 | transcript | ENST00000682701.1 | protein_coding | 24/24 | chr4 | TogoVar | |||||||
CCDC158_chr4_76308039_76426141 | 76319456 | AAAAAAAA others(16): Show |
A | intron_variant | MODIFIER | HG01071.hp2 HG01175.hp2 HG01981.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0002c0003t0001 | a0001c0001t0001g0009 a0001c0001t0001g0199 a0001c0001t0001g0212 others(10): Show |
13 | 337 | 0.0386 | -23 | c.327 others(42): Show |
CCDC158 | ENSG00000163749.18 | transcript | ENST00000682701.1 | protein_coding | 24/24 | chr4 | TogoVar | |||||||
CCDC158_chr4_76308039_76426141 | 76319458 | AAAAAAAA others(16): Show |
A | intron_variant | MODIFIER | HG00558.hp1 HG00639.hp1 HG00733.hp1 others(21): Show |
a0001a0005 | a0001c0001a0001c0023a0005c0006 | a0001c0001t0001a0001c0001t0002a0001c0023t0002others(1): Show | a0001c0001t0001g0043 a0001c0001t0001g0148 a0001c0001t0001g0156 others(19): Show |
24 | 337 | 0.0712 | -23 | c.327 others(42): Show |
CCDC158 | ENSG00000163749.18 | transcript | ENST00000682701.1 | protein_coding | 24/24 | chr4 | TogoVar | |||||||
CCDC158_chr4_76308039_76426141 | 76319460 | AAAAAAAT others(16): Show |
A | intron_variant | MODIFIER | HG01934.hp2 HG02055.hp2 HG02572.hp1 others(8): Show |
a0001a0005a0012 | a0001c0001a0005c0006a0012c0011 | a0001c0001t0001a0001c0001t0002a0005c0006t0002others(2): Show | a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0042 others(8): Show |
11 | 339 | 0.0324 | -23 | c.327 others(42): Show |
CCDC158 | ENSG00000163749.18 | transcript | ENST00000682701.1 | protein_coding | 24/24 | chr4 | TogoVar | |||||||
CCDC158_chr4_76308039_76426141 | 76319462 | AAAAATAT others(16): Show |
A | intron_variant | MODIFIER | HG01167.hp2 HG01256.hp2 HG02523.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0028 a0001c0001t0001g0186 a0001c0001t0002g0015 others(2): Show |
5 | 336 | 0.0149 | -23 | c.327 others(42): Show |
CCDC158 | ENSG00000163749.18 | transcript | ENST00000682701.1 | protein_coding | 24/24 | chr4 | TogoVar | |||||||
CCDC160_chrX_134232182_134251842 | 134232956 | GAGAGAGA others(16): Show |
G | upstream_gene_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 1 | 305 | 0.0033 | -23 | c.-45 others(34): Show |
CCDC160 | ENSG00000203952.10 | transcript | ENST00000695460.1 | protein_coding | 4225 | chrX | TogoVar | |||||||
CCDC171_chr9_15548043_15979037 | 15602632 | CTTTTTTT others(16): Show |
C | intron_variant | MODIFIER | HG00544.hp2 HG00735.hp2 HG00741.hp2 others(9): Show |
a0003a0005 | a0003c0003a0005c0005a0005c0009others(1): Show | a0003c0003t0004a0005c0005t0005a0005c0005t0009others(3): Show | a0003c0003t0004g0081 a0005c0005t0005g0245 a0005c0005t0005g0246 others(9): Show |
12 | 264 | 0.0455 | -23 | c.675 others(40): Show |
CCDC171 | ENSG00000164989.17 | transcript | ENST00000380701.8 | protein_coding | 6/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CCDC171_chr9_15548043_15979037 | 15743138 | CTTTTTTT others(16): Show |
C | intron_variant | MODIFIER | HG01070.hp1 HG03491.hp1 HG04204.hp1 others(4): Show |
a0001a0002a0008 | a0001c0001a0002c0002a0008c0008 | a0001c0001t0001a0002c0002t0002a0002c0002t0011others(2): Show | a0001c0001t0001g0010 a0001c0001t0001g0182 a0001c0001t0001g0203 others(4): Show |
7 | 97 | 0.0722 | -23 | c.205 others(42): Show |
CCDC171 | ENSG00000164989.17 | transcript | ENST00000380701.8 | protein_coding | 16/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CCDC171_chr9_15548043_15979037 | 15809609 | TGGAGTTG others(16): Show |
T | intron_variant | MODIFIER | HG02258.hp1 HG02895.hp1 HG02896.hp1 others(2): Show |
a0007 | a0007c0007 | a0007c0007t0005 | a0007c0007t0005g0058 a0007c0007t0005g0059 a0007c0007t0005g0060 others(2): Show |
5 | 264 | 0.0189 | -23 | c.326 others(44): Show |
CCDC171 | ENSG00000164989.17 | transcript | ENST00000380701.8 | protein_coding | 21/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CCDC178_chr18_32932406_33445721 | 33379102 | TATATATA others(16): Show |
T | intron_variant | MODIFIER | HG03486.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 a0001c0001t0001g0058 |
2 | 56 | 0.0357 | -23 | c.209 others(40): Show |
CCDC178 | ENSG00000166960.17 | transcript | ENST00000383096.8 | protein_coding | 5/22 | chr18 | TogoVar |