| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| JAKMIP3_chr10_132060946_132189858 | 132173125 | C | CCTCTCTC others(678): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0003 | a0003c0018 | a0003c0018t0003 | a0003c0018t0003g0015 | 1 | 158 | 0.0063 | 685 | c.*11 others(706): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(678): Show |
intron_variant | MODIFIER | HG01433.hp2 HG03927.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0190a0002c0002t0001g0249 | 2 | 312 | 0.0064 | 685 | c.-41 others(700): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(678): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0137 | 1 | 312 | 0.0032 | 685 | c.-41 others(700): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| LHPP_chr10_124456823_124619141 | 124507236 | G | GGTAGACA others(678): Show |
intron_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0225 | 1 | 260 | 0.0039 | 685 | c.624 others(702): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| LRP8_chr1_53237364_53333070 | 53283749 | C | CCACTTAC others(678): Show |
intron_variant | MODIFIER | HG00558.hp2 NA18980.hp2 NA18998.hp2 others(1): Show |
a0001a0003 | a0001c0004a0003c0005 | a0001c0004t0002a0001c0004t0006a0003c0005t0002 | a0001c0004t0002g0264a0001c0004t0006g0156a0001c0004t0006g0201others(1): Show | 4 | 296 | 0.0135 | 685 | c.368 others(702): Show |
LRP8 | ENSG00000157193.18 | transcript | ENST00000306052.12 | protein_coding | 3/18 | chr1 | TogoVar | ||||||
| LRRC17_chr7_102908000_102950111 | 102932560 | A | ATGATTTT others(678): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0175 | 1 | 398 | 0.0025 | 685 | c.-14 others(704): Show |
LRRC17 | ENSG00000128606.13 | transcript | ENST00000339431.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| LRRC17_chr7_102908000_102950111 | 102932560 | A | ATGATTTT others(678): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0136 | 1 | 398 | 0.0025 | 685 | c.-14 others(704): Show |
LRRC17 | ENSG00000128606.13 | transcript | ENST00000339431.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| LRRC17_chr7_102908000_102950111 | 102932560 | A | ATGATTTT others(678): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02451.hp2 HG02486.hp2 others(7): Show |
a0001a0009 | a0001c0001a0009c0012 | a0001c0001t0001a0009c0012t0001 | a0001c0001t0001g0022a0001c0001t0001g0106a0001c0001t0001g0110others(5): Show | 10 | 398 | 0.0251 | 685 | c.-14 others(704): Show |
LRRC17 | ENSG00000128606.13 | transcript | ENST00000339431.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| LRRC17_chr7_102908000_102950111 | 102932560 | A | ATGATTTT others(678): Show |
intron_variant | MODIFIER | HG02735.hp1 NA20905.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064a0001c0001t0001g0065 | 2 | 398 | 0.0050 | 685 | c.-14 others(704): Show |
LRRC17 | ENSG00000128606.13 | transcript | ENST00000339431.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| LRRC17_chr7_102908000_102950111 | 102932560 | A | ATGATTTT others(678): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(367): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0009a0002c0002others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0009t0001others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0009others(211): Show | 370 | 398 | 0.9297 | 685 | c.-14 others(704): Show |
LRRC17 | ENSG00000128606.13 | transcript | ENST00000339431.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| MICALL2_chr7_1429359_1464470 | 1446452 | G | GGGGGGAG others(678): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 280 | 0.0036 | 685 | c.641 others(700): Show |
MICALL2 | ENSG00000164877.19 | transcript | ENST00000297508.8 | protein_coding | 5/16 | chr7 | TogoVar | ||||||
| MOCS1_chr6_39899170_39939462 | 39926745 | G | GGGAAGGG others(678): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0244 | 1 | 272 | 0.0037 | 685 | c.250 others(700): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
| MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(678): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 272 | 0.0037 | 685 | c.250 others(700): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
| MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(678): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0240 | 1 | 272 | 0.0037 | 685 | c.250 others(700): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
| MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(678): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0243 | 1 | 272 | 0.0037 | 685 | c.250 others(700): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
| MROH1_chr8_144143016_144266926 | 144218788 | T | TCTGCTCT others(678): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0008 | a0008c0026 | a0008c0026t0001 | a0008c0026t0001g0011 | 1 | 140 | 0.0071 | 685 | c.114 others(704): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| MRTFA_chr22_40405289_40641719 | 40537628 | T | TGGGAGGT others(678): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0024 | a0001c0024t0001 | a0001c0024t0001g0111 | 1 | 256 | 0.0039 | 685 | c.241 others(704): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | |||||
| NOTCH1_chr9_136489433_136551048 | 136534885 | C | CCCCCCAG others(678): Show |
intron_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0011 | a0001c0011t0002 | a0001c0011t0002g0073 | 1 | 324 | 0.0031 | 685 | c.140 others(702): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | ||||||
| NT5DC3_chr12_103767310_103846234 | 103840379 | T | TCATCCCA others(678): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0355 | 1 | 386 | 0.0026 | 685 | c.208 others(700): Show |
NT5DC3 | ENSG00000111696.12 | transcript | ENST00000392876.8 | protein_coding | 1/13 | chr12 | TogoVar | ||||||
| PCDH15_chr10_53797771_54806231 | 54332298 | A | ATATTATT others(678): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 102 | 0.0098 | 685 | c.595 others(702): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 6/37 | chr10 | TogoVar | ||||||
| PCDH15_chr10_53797771_54806231 | 54332334 | A | ATATTATT others(678): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0004 | a0004c0004 | a0004c0004t0005 | a0004c0004t0005g0057 | 1 | 102 | 0.0098 | 685 | c.595 others(702): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 6/37 | chr10 | TogoVar | ||||||
| PCDH15_chr10_53816099_54806231 | 54332298 | A | ATATTATT others(678): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 94 | 0.0106 | 685 | c.595 others(702): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 6/32 | chr10 | TogoVar | ||||||
| PLEKHN1_chr1_961482_980865 | 976810 | G | GCAACCCC others(678): Show |
downstream_gene_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 422 | 0.0024 | 685 | c.*22 others(696): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 946 | chr1 | TogoVar | ||||||
| PLEKHN1_chr1_961482_980865 | 977059 | C | CCCCACCA others(678): Show |
downstream_gene_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0001 | 1 | 422 | 0.0024 | 685 | c.*24 others(696): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 1195 | chr1 | TogoVar | ||||||
| PWWP2B_chr10_132392200_132422859 | 132419651 | G | GGGGGGCC others(678): Show |
downstream_gene_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0003 | a0003c0008 | a0003c0008t0001 | a0003c0008t0001g0088 | 1 | 374 | 0.0027 | 685 | c.*26 others(696): Show |
PWWP2B | ENSG00000171813.14 | transcript | ENST00000305233.6 | protein_coding | 1793 | chr10 | TogoVar | ||||||
| PWWP2B_chr10_132392200_132422859 | 132419651 | G | GGGGGGCC others(678): Show |
downstream_gene_variant | MODIFIER | HG03688.hp1 | a0003 | a0003c0008 | a0003c0008t0001 | a0003c0008t0001g0115 | 1 | 374 | 0.0027 | 685 | c.*26 others(696): Show |
PWWP2B | ENSG00000171813.14 | transcript | ENST00000305233.6 | protein_coding | 1793 | chr10 | TogoVar | ||||||
| RFC1_chr4_39282456_39371362 | 39348450 | A | AAAGGGAA others(678): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0058 | 1 | 276 | 0.0036 | 685 | c.132 others(702): Show |
RFC1 | ENSG00000035928.17 | transcript | ENST00000349703.7 | protein_coding | 2/24 | chr4 | TogoVar | ||||||
| RPH3AL_chr17_207389_357807 | 218333 | T | TTGGGGCA others(678): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0100 | 1 | 133 | 0.0075 | 685 | c.727 others(702): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 8/9 | chr17 | TogoVar | ||||||
| SBNO2_chr19_1102638_1179268 | 1164894 | G | GAGGAGGA others(678): Show |
intron_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0140 | 1 | 203 | 0.0049 | 685 | c.-12 others(704): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | ||||||
| SEPTIN9_chr17_77276499_77505593 | 77356670 | C | CCCCCTCC others(678): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0079 | 1 | 150 | 0.0067 | 685 | c.77- others(702): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| SEPTIN9_chr17_77314518_77505593 | 77356670 | C | CCCCCTCC others(678): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0080 | 1 | 158 | 0.0063 | 685 | c.22+ others(702): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| SLC6A3_chr5_1387794_1450440 | 1414431 | A | ACTGGGTG others(678): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0271 | 1 | 373 | 0.0027 | 685 | c.115 others(702): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | ||||||
| SLC6A3_chr5_1387794_1450440 | 1414460 | G | GGGGAAGG others(678): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 373 | 0.0027 | 685 | c.115 others(702): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | ||||||
| SLIT3_chr5_168656740_169306139 | 168726538 | G | GAGGGAGG others(678): Show |
intron_variant | MODIFIER | HG02976.hp2 NA19030.hp2 |
a0001 | a0001c0003a0001c0015 | a0001c0003t0017a0001c0015t0017 | a0001c0003t0017g0050a0001c0015t0017g0089 | 2 | 132 | 0.0152 | 685 | c.227 others(704): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 20/35 | chr5 | TogoVar | ||||||
| TGM2_chr20_38122385_38170270 | 38124003 | C | CTATTATA others(678): Show |
downstream_gene_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0059 | 1 | 360 | 0.0028 | 685 | c.*62 others(696): Show |
TGM2 | ENSG00000198959.12 | transcript | ENST00000361475.7 | protein_coding | 3381 | chr20 | TogoVar | ||||||
| THBS2_chr6_169210785_169258846 | 169242718 | T | TTCCCACC others(678): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0280 | 1 | 396 | 0.0025 | 685 | c.695 others(700): Show |
THBS2 | ENSG00000186340.17 | transcript | ENST00000617924.6 | protein_coding | 4/21 | chr6 | TogoVar | ||||||
| THNSL2_chr2_88165346_88191627 | 88181113 | T | TCTCTCTC others(678): Show |
intron_variant | MODIFIER | HG02735.hp1 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0046a0001c0001t0002g0050 | 2 | 54 | 0.0370 | 685 | c.803 others(702): Show |
THNSL2 | ENSG00000144115.18 | transcript | ENST00000674334.2 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| TRAF6_chr11_36478769_36515272 | 36507168 | C | CATACGTA others(678): Show |
intron_variant | MODIFIER | NA19066.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0215 | 1 | 388 | 0.0026 | 685 | c.-23 others(702): Show |
TRAF6 | ENSG00000175104.15 | transcript | ENST00000526995.6 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
| TSHZ2_chr20_52967358_53500330 | 53204081 | T | TTATATCA others(678): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02897.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0066a0002c0003t0085 | a0001c0001t0066g0077a0002c0003t0085g0047 | 2 | 174 | 0.0115 | 685 | c.41- others(702): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| TUBGCP3_chr13_112480011_112593153 | 112539766 | C | CAACATCA others(678): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0251 | 1 | 312 | 0.0032 | 685 | c.133 others(704): Show |
TUBGCP3 | ENSG00000126216.15 | transcript | ENST00000261965.8 | protein_coding | 11/21 | chr13 | TogoVar | ||||||
| TUBGCP3_chr13_112480011_112593153 | 112539770 | A | ATCAATGT others(678): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0016 | 1 | 312 | 0.0032 | 685 | c.133 others(704): Show |
TUBGCP3 | ENSG00000126216.15 | transcript | ENST00000261965.8 | protein_coding | 11/21 | chr13 | TogoVar | ||||||
| TUBGCP3_chr13_112480011_112593153 | 112539770 | A | ATCAATGT others(678): Show |
intron_variant | MODIFIER | HG02717.hp1 HG02922.hp2 HG02965.hp1 others(7): Show |
a0001 | a0001c0004a0001c0005a0001c0008 | a0001c0004t0001a0001c0005t0002a0001c0008t0009 | a0001c0004t0001g0254a0001c0004t0001g0255a0001c0004t0001g0256others(7): Show | 10 | 312 | 0.0321 | 685 | c.133 others(704): Show |
TUBGCP3 | ENSG00000126216.15 | transcript | ENST00000261965.8 | protein_coding | 11/21 | chr13 | TogoVar | ||||||
| ZNF85_chr19_20918251_20955697 | 20919169 | G | GTATATAT others(678): Show |
upstream_gene_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0218 | 1 | 383 | 0.0026 | 685 | c.-42 others(696): Show |
ZNF85 | ENSG00000105750.15 | transcript | ENST00000328178.13 | protein_coding | 4081 | chr19 | TogoVar | ||||||
| ZNF85_chr19_20918251_20955697 | 20919169 | G | GTATATAT others(678): Show |
upstream_gene_variant | MODIFIER | HG02647.hp1 HG02970.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0213a0001c0001t0002g0217 | 2 | 383 | 0.0052 | 685 | c.-42 others(696): Show |
ZNF85 | ENSG00000105750.15 | transcript | ENST00000328178.13 | protein_coding | 4081 | chr19 | TogoVar | ||||||
| ZNF85_chr19_20918251_20955697 | 20919169 | G | GTATATAT others(678): Show |
upstream_gene_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0229 | 1 | 383 | 0.0026 | 685 | c.-42 others(696): Show |
ZNF85 | ENSG00000105750.15 | transcript | ENST00000328178.13 | protein_coding | 4081 | chr19 | TogoVar | ||||||
| ABCB11_chr2_168915781_169036324 | 168975232 | T | TTTATATA others(679): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0015 | a0015c0042 | a0015c0042t0005 | a0015c0042t0005g0032 | 1 | 306 | 0.0033 | 686 | c.130 others(705): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | ||||||
| ABCB11_chr2_168915781_169036324 | 168975305 | A | ATAAATAT others(679): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0002 | a0001c0002t0025 | a0001c0002t0025g0214 | 1 | 306 | 0.0033 | 686 | c.130 others(705): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | ||||||
| ABCB11_chr2_168915781_169036324 | 168975544 | T | TATAAATA others(679): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0002 | a0001c0002t0025 | a0001c0002t0025g0214 | 1 | 306 | 0.0033 | 686 | c.130 others(705): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | ||||||
| ABR_chr17_998519_1184981 | 1173247 | A | ACATCACC others(679): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0091a0001c0003t0080 | a0001c0001t0091g0286a0001c0003t0080g0287 | 2 | 337 | 0.0059 | 686 | c.61+ others(701): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | ||||||
| ADAMTS3_chr4_72275969_72574221 | 72456228 | G | GTACATTG others(679): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 182 | 0.0055 | 686 | c.505 others(705): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar |