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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SEL1L2_chr20_13844247_13995614 | 13934328 | C | CATATATA others(990): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0046 | 1 | 324 | 0.0031 | 997 | c.115 others(1014): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | ||||||
TBC1D22A_chr22_46757650_47180693 | 46878326 | A | AGAGAGAA others(990): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0099 | 1 | 112 | 0.0089 | 997 | c.638 others(1012): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
TSHZ2_chr20_52967358_53500330 | 53204252 | T | TATGATGA others(990): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0038 | 1 | 174 | 0.0058 | 997 | c.41- others(1014): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ABCB11_chr2_168915781_169036324 | 168975298 | T | TAGATAAA others(991): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0254 | 1 | 306 | 0.0033 | 998 | c.130 others(1017): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | ||||||
ADARB1_chr21_45069580_45231560 | 45224526 | G | GGGAGCCC others(991): Show |
3_prime_UTR_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0003 | a0001c0003t0058 | a0001c0003t0058g0055 | 1 | 350 | 0.0029 | 998 | c.*23 others(1009): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 11/11 | 2342 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(991): Show |
intron_variant | MODIFIER | HG01981.hp2 HG02293.hp1 |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0025a0003c0003t0002g0028 | 2 | 218 | 0.0092 | 998 | c.108 others(1015): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 344505 | T | TGTGTGTG others(991): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0185 | 1 | 268 | 0.0037 | 998 | c.62+ others(1011): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ALDH7A1_chr5_126536841_126600219 | 126584671 | A | AAAAAAAA others(991): Show |
intron_variant | MODIFIER | NA18987.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0288 | 1 | 380 | 0.0026 | 998 | c.313 others(1013): Show |
ALDH7A1 | ENSG00000164904.18 | transcript | ENST00000409134.8 | protein_coding | 3/17 | chr5 | TogoVar | ||||||
ASAP2_chr2_9201812_9410678 | 9400249 | T | TTCCCCTC others(991): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0003 | 1 | 210 | 0.0048 | 998 | c.273 others(1015): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 25/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CCDC6_chr10_59783747_59911556 | 59882566 | G | GCGGGGAG others(991): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0023 | 1 | 288 | 0.0035 | 998 | c.303 others(1017): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | ||||||
CCDC6_chr10_59783747_59911556 | 59882566 | G | GCGGGGAG others(991): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0022 | 1 | 288 | 0.0035 | 998 | c.303 others(1017): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(991): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 320 | 0.0031 | 998 | c.380 others(1015): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(991): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0172 | 1 | 320 | 0.0031 | 998 | c.380 others(1015): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CNST_chr1_246561456_246673595 | 246642837 | G | GGTGGTGG others(991): Show |
intron_variant | MODIFIER | NA18993.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0054 | 1 | 320 | 0.0031 | 998 | c.937 others(1013): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CNST_chr1_246561456_246673595 | 246642837 | G | GGTGGTGG others(991): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 320 | 0.0031 | 998 | c.937 others(1013): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CNST_chr1_246561456_246673595 | 246642837 | G | GGTGGTGG others(991): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0183 | 1 | 320 | 0.0031 | 998 | c.937 others(1013): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CNST_chr1_246561456_246673595 | 246642837 | G | GGTGGTGG others(991): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0270 | 1 | 320 | 0.0031 | 998 | c.937 others(1013): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DGKB_chr7_14140049_14907751 | 14471369 | A | ACATACAT others(991): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0118 | 1 | 148 | 0.0068 | 998 | c.183 others(1017): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 21/25 | chr7 | TogoVar | ||||||
DGKB_chr7_14140049_14907751 | 14471369 | A | ACATACAT others(991): Show |
intron_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 148 | 0.0068 | 998 | c.183 others(1017): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 21/25 | chr7 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 929102 | C | CGCCATTC others(991): Show |
intron_variant | MODIFIER | HG01071.hp2 NA20300.hp2 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0006a0002c0001t0011 | a0001c0002t0006g0011a0002c0001t0011g0001 | 2 | 40 | 0.0500 | 998 | c.73+ others(1015): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DPEP1_chr16_89608642_89643433 | 89635172 | T | TTCCTTCC others(991): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 250 | 0.0040 | 998 | c.105 others(1013): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
GPIHBP1_chr8_143208218_143222170 | 143218186 | C | CCCCAACA others(991): Show |
downstream_gene_variant | MODIFIER | HG03471.hp1 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0003 | 1 | 106 | 0.0094 | 998 | c.*26 others(1009): Show |
GPIHBP1 | ENSG00000277494.2 | transcript | ENST00000622500.2 | protein_coding | 1017 | chr8 | TogoVar | ||||||
INPP5A_chr10_132532787_132788480 | 132775188 | G | GGGGCAGG others(991): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 204 | 0.0049 | 998 | c.978 others(1015): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MKRN2_chr3_12552087_12588713 | 12563712 | A | ACTCCTGA others(991): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0169 | 1 | 328 | 0.0031 | 998 | c.27- others(1013): Show |
MKRN2 | ENSG00000075975.17 | transcript | ENST00000170447.12 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
MKRN2_chr3_12552087_12588713 | 12563712 | A | ACTCCTGA others(991): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00642.hp2 HG00733.hp1 others(57): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0221a0001c0001t0001g0224a0001c0001t0001g0225others(51): Show | 60 | 328 | 0.1829 | 998 | c.27- others(1013): Show |
MKRN2 | ENSG00000075975.17 | transcript | ENST00000170447.12 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
MKRN2_chr3_12552087_12588713 | 12563712 | A | ACTCCTGA others(991): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02647.hp1 HG02895.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0009a0001c0001t0003g0234a0001c0001t0003g0235others(2): Show | 7 | 328 | 0.0213 | 998 | c.27- others(1013): Show |
MKRN2 | ENSG00000075975.17 | transcript | ENST00000170447.12 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
MKRN2_chr3_12552087_12588713 | 12563712 | A | ACTCCTGA others(991): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00639.hp2 HG01070.hp2 others(30): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(5): Show | a0001c0001t0001g0183a0001c0001t0003g0018a0001c0001t0003g0019others(28): Show | 33 | 328 | 0.1006 | 998 | c.27- others(1013): Show |
MKRN2 | ENSG00000075975.17 | transcript | ENST00000170447.12 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
MSR1_chr8_16102881_16197651 | 16189618 | A | ATATATAT others(991): Show |
intron_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221 | 1 | 330 | 0.0030 | 998 | c.-5+ others(1013): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | ||||||
NINL_chr20_25447697_25590531 | 25575604 | A | ATTTTTTT others(991): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01258.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0001a0002c0002t0002g0002 | 2 | 310 | 0.0065 | 998 | c.-12 others(1015): Show |
NINL | ENSG00000101004.16 | transcript | ENST00000278886.11 | protein_coding | 1/23 | chr20 | TogoVar | ||||||
NOTCH1_chr9_136489433_136551048 | 136528443 | G | GGGGGGAT others(991): Show |
intron_variant | MODIFIER | HG00140.hp1 NA20905.hp1 |
a0001 | a0001c0003a0001c0007 | a0001c0003t0002a0001c0007t0006 | a0001c0003t0002g0053a0001c0007t0006g0119 | 2 | 324 | 0.0062 | 998 | c.141 others(1015): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | ||||||
NOTCH1_chr9_136489433_136551048 | 136528443 | G | GGGGGGAT others(991): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0007 | a0001c0007t0006 | a0001c0007t0006g0118 | 1 | 324 | 0.0031 | 998 | c.141 others(1015): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | ||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(991): Show |
intron_variant | MODIFIER | HG02970.hp2 NA20300.hp1 |
a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0037a0006c0006t0001g0038 | 2 | 308 | 0.0065 | 998 | c.371 others(1015): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | ||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(991): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0025 | a0025c0029 | a0025c0029t0001 | a0025c0029t0001g0001 | 1 | 308 | 0.0033 | 998 | c.371 others(1015): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | ||||||
PRKN_chr6_161342417_162732766 | 161874933 | A | ATAATATA others(991): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0008 | a0001c0008t0010 | a0001c0008t0010g0014 | 1 | 32 | 0.0313 | 998 | c.735 others(1017): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 6/11 | chr6 | TogoVar | ||||||
RASA3_chr13_113972783_114137623 | 114010763 | G | GGAGGGGA others(991): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 67 | 0.0149 | 998 | c.159 others(1015): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 16/23 | chr13 | TogoVar | ||||||
RIN3_chr14_92508781_92693994 | 92547360 | A | AAATAAAT others(991): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0295 | 1 | 334 | 0.0030 | 998 | c.45- others(1013): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
SHANK1_chr19_50654255_50724802 | 50678791 | A | ATGGGGAG others(991): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0007 | a0007c0034 | a0007c0034t0007 | a0007c0034t0007g0252 | 1 | 316 | 0.0032 | 998 | c.257 others(1017): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 246325241 | C | CGGGGGGG others(991): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0145 | 1 | 150 | 0.0067 | 998 | c.531 others(1015): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
SYNE3_chr14_95402266_95521650 | 95419894 | A | AGGGTGAT others(991): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0003 | a0003c0004 | a0003c0004t0186 | a0003c0004t0186g0344 | 1 | 384 | 0.0026 | 998 | c.272 others(1017): Show |
SYNE3 | ENSG00000176438.13 | transcript | ENST00000682763.1 | protein_coding | 17/17 | chr14 | TogoVar | ||||||
TMEM120B_chr12_121707752_121787068 | 121747263 | T | TGGGAGGC others(991): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0055 | a0001c0001t0055g0095 | 1 | 314 | 0.0032 | 998 | c.189 others(1015): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ULK1_chr12_131889622_131928150 | 131917283 | G | GGAGGCTG others(991): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01081.hp2 |
a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0010 | 2 | 344 | 0.0058 | 998 | c.218 others(1015): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20668985 | G | GCCCCCCG others(992): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0008 | a0008c0027 | a0008c0027t0001 | a0008c0027t0001g0324 | 1 | 360 | 0.0028 | 999 | c.170 others(1020): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ALDH7A1_chr5_126536841_126600219 | 126584671 | A | AAAAAAAA others(992): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0295 | 1 | 380 | 0.0026 | 999 | c.313 others(1014): Show |
ALDH7A1 | ENSG00000164904.18 | transcript | ENST00000409134.8 | protein_coding | 3/17 | chr5 | TogoVar | ||||||
ALDH7A1_chr5_126536841_126600219 | 126584671 | A | AAAAAAAA others(992): Show |
intron_variant | MODIFIER | HG02027.hp2 HG02129.hp1 HG02135.hp2 others(6): Show |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0002a0001c0004t0003others(3): Show | a0001c0004t0001g0154a0001c0004t0001g0291a0001c0004t0002g0293others(6): Show | 9 | 380 | 0.0237 | 999 | c.313 others(1014): Show |
ALDH7A1 | ENSG00000164904.18 | transcript | ENST00000409134.8 | protein_coding | 3/17 | chr5 | TogoVar | ||||||
ARHGAP39_chr8_144524179_144690846 | 144531191 | A | AGAGCAGC others(992): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0090 | 1 | 246 | 0.0041 | 999 | c.298 others(1016): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 10/11 | chr8 | TogoVar | ||||||
ARHGEF10L_chr1_17534698_17702869 | 17689483 | C | CCCTCCCT others(992): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02897.hp2 HG03486.hp2 |
a0001 | a0001c0017a0001c0043 | a0001c0017t0002a0001c0043t0002 | a0001c0017t0002g0113a0001c0017t0002g0148a0001c0043t0002g0051 | 3 | 168 | 0.0179 | 999 | c.318 others(1018): Show |
ARHGEF10L | ENSG00000074964.17 | transcript | ENST00000361221.8 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
C2CD4C_chr19_400445_414147 | 411068 | G | GTCTGTCC others(992): Show |
upstream_gene_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0079 | a0001c0001t0079g0046 | 1 | 322 | 0.0031 | 999 | c.-21 others(1010): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1922 | chr19 | TogoVar | ||||||
C2CD4C_chr19_400445_414147 | 411166 | C | CCGGATCC others(992): Show |
upstream_gene_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0048 | a0001c0001t0048g0154 | 1 | 322 | 0.0031 | 999 | c.-22 others(1010): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 2020 | chr19 | TogoVar | ||||||
C2CD4C_chr19_400445_414147 | 411301 | G | GCCCCTAC others(992): Show |
upstream_gene_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0109 | a0001c0001t0109g0089 | 1 | 322 | 0.0031 | 999 | c.-23 others(1010): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 2155 | chr19 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(992): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0181 | 1 | 320 | 0.0031 | 999 | c.380 others(1016): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |