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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CAMTA1_chr1_6780454_7774706 | 7276303 | A | ATATATAT others(38): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0056 | 1 | 58 | 0.0172 | 45 | c.438 others(64): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CANT1_chr17_78986716_79014764 | 79004727 | A | AGGGGAGT others(38): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0070 | 1 | 394 | 0.0025 | 45 | c.-14 others(64): Show |
CANT1 | ENSG00000171302.17 | transcript | ENST00000392446.10 | protein_coding | 1/4 | chr17 | TogoVar | ||||||
CANT1_chr17_78986716_79014764 | 79005167 | A | AGGAGAGG others(38): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0003 | a0003c0007 | a0003c0007t0006 | a0003c0007t0006g0236 | 1 | 394 | 0.0025 | 45 | c.-14 others(64): Show |
CANT1 | ENSG00000171302.17 | transcript | ENST00000392446.10 | protein_coding | 1/4 | chr17 | TogoVar | ||||||
CAPN11_chr6_44153820_44189401 | 44181720 | C | CACATACA others(38): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193 | 1 | 460 | 0.0022 | 45 | c.193 others(62): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CAPN11_chr6_44153820_44189401 | 44182252 | C | CCACACTC others(38): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01255.hp1 HG01515.hp1 others(4): Show |
a0003a0010 | a0003c0003a0010c0012 | a0003c0003t0002a0010c0012t0002 | a0003c0003t0002g0009a0003c0003t0002g0106a0003c0003t0002g0422others(2): Show | 7 | 460 | 0.0152 | 45 | c.193 others(62): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CAPN12_chr19_38725192_38749474 | 38735767 | G | GGGGGCGG others(38): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0024 | a0001c0024t0001 | a0001c0024t0001g0078 | 1 | 342 | 0.0029 | 45 | c.158 others(62): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | ||||||
CAPN12_chr19_38725192_38749474 | 38735843 | G | GGGGCGGG others(38): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0241 | 1 | 342 | 0.0029 | 45 | c.158 others(62): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | ||||||
CAPN15_chr16_522712_559636 | 544825 | C | CCTCCCCC others(38): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0341 | 1 | 410 | 0.0024 | 45 | c.-22 others(62): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CAPN3_chr15_42354501_42417317 | 42380751 | A | ATATATAT others(38): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0205 | 1 | 306 | 0.0033 | 45 | c.310 others(62): Show |
CAPN3 | ENSG00000092529.26 | transcript | ENST00000397163.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25450980 | T | TCCTCTCC others(38): Show |
intron_variant | MODIFIER | NA19072.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0140 | 1 | 186 | 0.0054 | 45 | c.614 others(60): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 8/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CASP10_chr2_201178141_201226665 | 201217635 | G | GTCGAAGA others(38): Show |
conservative_inframe_insertion | MODERATE | HG01884.hp1 | a0008 | a0008c0013 | a0008c0013t0016 | a0008c0013t0016g0174 | 1 | 322 | 0.0031 | 45 | c.146 others(54): Show |
p.Arg others(13): Show |
CASP10 | ENSG00000003400.16 | transcript | ENST00000286186.11 | protein_coding | 10/10 | 1685/5668 | 1510/1569 | 504/522 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |
CASR_chr3_122178668_122296629 | 122252446 | A | AAAGAAAG others(38): Show |
intron_variant | MODIFIER | NA18961.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0283 | 1 | 314 | 0.0032 | 45 | c.-24 others(64): Show |
CASR | ENSG00000036828.17 | transcript | ENST00000639785.2 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CBFA2T2_chr20_33485096_33655030 | 33544985 | T | TAGAACAG others(38): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0019 | 1 | 298 | 0.0034 | 45 | c.34+ others(62): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CBFA2T3_chr16_88869858_88982207 | 88909507 | C | CGCCACTG others(38): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02451.hp1 HG02559.hp1 others(7): Show |
a0001 | a0001c0003a0001c0009 | a0001c0003t0001a0001c0003t0002a0001c0003t0004others(3): Show | a0001c0003t0001g0166a0001c0003t0001g0204a0001c0003t0001g0245others(7): Show | 10 | 284 | 0.0352 | 45 | c.152 others(62): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | ||||||
CBFA2T3_chr16_88869858_88982207 | 88909579 | G | GGCGGCTG others(38): Show |
intron_variant | MODIFIER | HG02040.hp1 HG02886.hp1 HG03579.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0012a0001c0005t0028 | a0001c0001t0001g0054a0001c0005t0012g0184a0001c0005t0028g0249 | 3 | 284 | 0.0106 | 45 | c.152 others(62): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | ||||||
CBFA2T3_chr16_88869858_88982207 | 88975123 | C | CCTCTGCT others(38): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01257.hp2 HG02486.hp1 others(1): Show |
a0001 | a0001c0001a0001c0018 | a0001c0001t0001a0001c0001t0002a0001c0001t0020others(1): Show | a0001c0001t0001g0264a0001c0001t0002g0265a0001c0001t0020g0262others(1): Show | 4 | 284 | 0.0141 | 45 | c.151 others(62): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | ||||||
CBFA2T3_chr16_88869858_88982207 | 88975123 | C | CCTCTGCT others(38): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0216 | 1 | 284 | 0.0035 | 45 | c.151 others(62): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | ||||||
CBFA2T3_chr16_88869858_88982207 | 88975123 | C | CCTCTGCT others(38): Show |
intron_variant | MODIFIER | HG02486.hp2 NA18979.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019a0001c0001t0001g0047 | 2 | 284 | 0.0070 | 45 | c.151 others(62): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | ||||||
CBFA2T3_chr16_88869858_88982207 | 88975123 | C | CCTCTGCT others(38): Show |
intron_variant | MODIFIER | HG01074.hp2 HG03098.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0169a0001c0002t0001g0104 | 2 | 284 | 0.0070 | 45 | c.151 others(62): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | ||||||
CBFA2T3_chr16_88869858_88982207 | 88975123 | C | CCTCTGCT others(38): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0022 | a0001c0022t0008 | a0001c0022t0008g0192 | 1 | 284 | 0.0035 | 45 | c.151 others(62): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | ||||||
CBFA2T3_chr16_88869858_88982207 | 88975140 | C | CAGCCATA others(38): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 284 | 0.0035 | 45 | c.151 others(62): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | ||||||
CBFA2T3_chr16_88869858_88982207 | 88975155 | T | TCCACCCT others(38): Show |
intron_variant | MODIFIER | HG03831.hp1 NA18983.hp2 NA19085.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223a0001c0001t0001g0275a0001c0001t0001g0276 | 3 | 284 | 0.0106 | 45 | c.151 others(62): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | ||||||
CBFA2T3_chr16_88869858_88982207 | 88975165 | C | CCCTCTCT others(38): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 284 | 0.0035 | 45 | c.151 others(62): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | ||||||
CBFA2T3_chr16_88869858_88982207 | 88975210 | C | CCCTCTCT others(38): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 | 1 | 284 | 0.0035 | 45 | c.151 others(62): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | ||||||
CBFA2T3_chr16_88869858_88982207 | 88975228 | C | CAGCCATA others(38): Show |
intron_variant | MODIFIER | HG00642.hp2 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082a0001c0001t0001g0183 | 2 | 284 | 0.0070 | 45 | c.151 others(62): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | ||||||
CBL_chr11_119201339_119313149 | 119283625 | C | CTTTTTTT others(38): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 | 1 | 364 | 0.0028 | 45 | c.143 others(64): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CCBE1_chr18_59425939_59702423 | 59565295 | T | TGTTCAGA others(38): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00597.hp1 others(74): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0008a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0031a0001c0001t0001g0047a0001c0001t0001g0064others(74): Show | 77 | 242 | 0.3182 | 45 | c.213 others(64): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 2/10 | chr18 | TogoVar | ||||||
CCDC122_chr13_43831352_43884740 | 43879768 | G | GTGAGGCG others(38): Show |
upstream_gene_variant | MODIFIER | HG00597.hp1 HG00609.hp1 NA19068.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0003 | 3 | 442 | 0.0068 | 45 | c.-33 others(54): Show |
CCDC122 | ENSG00000151773.13 | transcript | ENST00000444614.8 | protein_coding | 29 | chr13 | TogoVar | ||||||
CCDC136_chr7_128786968_128827130 | 128796739 | A | ATATATAT others(38): Show |
intron_variant | MODIFIER | NA18993.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0166 | 1 | 380 | 0.0026 | 45 | c.346 others(62): 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(38): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0156 | 1 | 380 | 0.0026 | 45 | c.346 others(62): Show |
CCDC136 | ENSG00000128596.17 | transcript | ENST00000297788.9 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CCDC148_chr2_158166073_158461753 | 158433091 | A | AAAAAAAA others(38): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0006 | a0006c0006 | a0006c0006t0002 | a0006c0006t0002g0095 | 1 | 264 | 0.0038 | 45 | c.25+ others(62): Show |
CCDC148 | ENSG00000153237.19 | transcript | ENST00000283233.10 | protein_coding | 1/13 | chr2 | TogoVar | ||||||
CCDC148_chr2_158166073_158461753 | 158433091 | A | AAAAAAAA others(38): Show |
intron_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0109 | 1 | 264 | 0.0038 | 45 | c.25+ others(62): Show |
CCDC148 | ENSG00000153237.19 | transcript | ENST00000283233.10 | protein_coding | 1/13 | chr2 | TogoVar | ||||||
CCDC149_chr4_24798514_24918042 | 24906364 | A | AATTTTAT others(38): Show |
intron_variant | MODIFIER | HG01361.hp1 HG02004.hp1 HG02293.hp1 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(7): Show | a0001c0001t0001g0146a0001c0001t0002g0134a0001c0001t0005g0298others(11): Show | 14 | 354 | 0.0396 | 45 | c.48+ others(60): Show |
CCDC149 | ENSG00000181982.20 | transcript | ENST00000635206.3 | protein_coding | 1/12 | chr4 | TogoVar | ||||||
CCDC149_chr4_24798514_24918042 | 24906364 | A | AATTTTAT others(38): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG01981.hp1 others(5): Show |
a0001a0005 | a0001c0001a0005c0011 | a0001c0001t0001a0001c0001t0008a0001c0001t0011others(3): Show | a0001c0001t0001g0032a0001c0001t0001g0038a0001c0001t0008g0033others(5): Show | 8 | 354 | 0.0226 | 45 | c.48+ others(60): Show |
CCDC149 | ENSG00000181982.20 | transcript | ENST00000635206.3 | protein_coding | 1/12 | chr4 | TogoVar | ||||||
CCDC18_chr1_93175724_93283730 | 93282462 | C | CATATATA others(38): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(49): Show |
a0003a0008a0009 | a0003c0003a0008c0014a0009c0013 | a0003c0003t0002a0008c0014t0002a0009c0013t0002 | a0003c0003t0002g0001a0003c0003t0002g0085a0003c0003t0002g0086others(48): Show | 52 | 316 | 0.1646 | 45 | c.*39 others(56): Show |
CCDC18 | ENSG00000122483.18 | transcript | ENST00000690025.1 | protein_coding | 3733 | chr1 | TogoVar | ||||||
CCDC192_chr5_127698391_127946507 | 127921087 | A | AGAAAGGA others(38): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0232 | 1 | 234 | 0.0043 | 45 | c.536 others(64): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CCDC200_chr17_43216420_43233623 | 43225677 | A | AAGTATAT others(38): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01099.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0013a0001c0001t0002g0032a0001c0001t0002g0033others(2): Show | 9 | 334 | 0.0270 | 45 | c.106 others(62): Show |
CCDC200 | ENSG00000236383.9 | transcript | ENST00000636331.2 | protein_coding | 1/3 | chr17 | TogoVar | ||||||
CCDC200_chr17_43216420_43233623 | 43225693 | T | TATATATA others(38): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0086 | 1 | 334 | 0.0030 | 45 | c.106 others(62): Show |
CCDC200 | ENSG00000236383.9 | transcript | ENST00000636331.2 | protein_coding | 1/3 | chr17 | TogoVar | ||||||
CCDC38_chr12_95862048_95947614 | 95908636 | A | AGAGGGAG others(38): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01981.hp1 HG02451.hp1 |
a0001a0007 | a0001c0001a0001c0005a0007c0015 | a0001c0001t0001a0001c0005t0001a0007c0015t0001 | a0001c0001t0001g0152a0001c0005t0001g0069a0007c0015t0001g0041 | 3 | 350 | 0.0086 | 45 | c.305 others(62): Show |
CCDC38 | ENSG00000165972.13 | transcript | ENST00000344280.8 | protein_coding | 4/15 | chr12 | TogoVar | ||||||
CCDC66_chr3_56552175_56626837 | 56556842 | G | GGGGGGGG others(38): Show |
upstream_gene_variant | MODIFIER | NA19054.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 372 | 0.0027 | 45 | c.-40 others(54): Show |
CCDC66 | ENSG00000180376.17 | transcript | ENST00000394672.8 | protein_coding | 332 | chr3 | TogoVar | ||||||
CCDC66_chr3_56552175_56626837 | 56556842 | G | GGGGGTGT others(38): Show |
upstream_gene_variant | MODIFIER | HG00597.hp2 HG01123.hp2 HG02155.hp1 others(5): Show |
a0001a0004 | a0001c0001a0001c0034a0004c0011 | a0001c0001t0001a0001c0001t0002a0001c0034t0001others(1): Show | a0001c0001t0001g0014a0001c0001t0001g0096a0001c0001t0001g0167others(5): Show | 8 | 372 | 0.0215 | 45 | c.-40 others(54): Show |
CCDC66 | ENSG00000180376.17 | transcript | ENST00000394672.8 | protein_coding | 332 | chr3 | TogoVar | ||||||
CCDC66_chr3_56552175_56626837 | 56556842 | G | GGGTGTGT others(38): Show |
upstream_gene_variant | MODIFIER | HG00597.hp1 HG03209.hp2 HG03225.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0003 | a0001c0001t0001g0163a0001c0001t0003g0177a0002c0002t0003g0252 | 3 | 372 | 0.0081 | 45 | c.-40 others(54): Show |
CCDC66 | ENSG00000180376.17 | transcript | ENST00000394672.8 | protein_coding | 332 | chr3 | TogoVar | ||||||
CCDC66_chr3_56552175_56626837 | 56597777 | G | GTTTTTTT others(38): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0269 | 1 | 372 | 0.0027 | 45 | c.140 others(64): Show |
CCDC66 | ENSG00000180376.17 | transcript | ENST00000394672.8 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CCDC6_chr10_59783747_59911556 | 59882204 | G | GGAAAGCC others(38): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0094 | 1 | 288 | 0.0035 | 45 | c.303 others(64): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | ||||||
CCDC7_chr10_32441140_32887864 | 32828461 | A | AGAAGAAG others(38): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0192 | 1 | 368 | 0.0027 | 45 | c.326 others(64): Show |
CCDC7 | ENSG00000216937.14 | transcript | ENST00000639629.2 | protein_coding | 33/43 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CCDC7_chr10_32441140_32887864 | 32828461 | A | AGAAGAAG others(38): Show |
intron_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0169 | 1 | 368 | 0.0027 | 45 | c.326 others(64): Show |
CCDC7 | ENSG00000216937.14 | transcript | ENST00000639629.2 | protein_coding | 33/43 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CCDC7_chr10_32441140_32887864 | 32828461 | A | AGAAGAAG others(38): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0197 | 1 | 368 | 0.0027 | 45 | c.326 others(64): Show |
CCDC7 | ENSG00000216937.14 | transcript | ENST00000639629.2 | protein_coding | 33/43 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CCDC7_chr10_32441140_32887864 | 32830086 | A | AATATATA others(38): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0227 | 1 | 368 | 0.0027 | 45 | c.326 others(64): Show |
CCDC7 | ENSG00000216937.14 | transcript | ENST00000639629.2 | protein_coding | 33/43 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CCDC88A_chr2_55282842_55424856 | 55367528 | G | GTTTTTTT others(38): Show |
intron_variant | MODIFIER | HG01192.hp1 HG02809.hp2 HG03453.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009 | a0001c0001t0002g0109a0001c0001t0002g0157a0001c0001t0002g0158others(5): Show | 8 | 316 | 0.0253 | 45 | c.403 others(62): Show |
CCDC88A | ENSG00000115355.18 | transcript | ENST00000436346.7 | protein_coding | 5/32 | chr2 | TogoVar | ||||||
CCDC89_chr11_85678848_85691195 | 85682806 | G | GGATTACC others(38): Show |
downstream_gene_variant | MODIFIER | NA19006.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 454 | 0.0022 | 45 | c.*21 others(56): Show |
CCDC89 | ENSG00000179071.5 | transcript | ENST00000316398.5 | protein_coding | 1041 | chr11 | TogoVar |