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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UQCC1_chr20_35297578_35416973 | 35331066 | GACA | G | intron_variant | MODIFIER | HG00558.hp1 HG02015.hp2 NA18956.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 others(3): Show |
6 | 254 | 0.0236 | -3 | c.573 others(22): Show |
UQCC1 | ENSG00000101019.22 | transcript | ENST00000374385.10 | protein_coding | 7/9 | chr20 | TogoVar | |||||||
UQCC1_chr20_35297578_35416973 | 35349602 | TAGG | T | intron_variant | MODIFIER | HG02257.hp2 HG02630.hp2 HG02809.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0235 others(4): Show |
7 | 253 | 0.0277 | -3 | c.465 others(20): Show |
UQCC1 | ENSG00000101019.22 | transcript | ENST00000374385.10 | protein_coding | 6/9 | chr20 | TogoVar | |||||||
UQCC1_chr20_35297578_35416973 | 35356560 | TACA | T | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp1 HG02258.hp2 others(9): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0143 a0001c0001t0001g0210 a0001c0001t0001g0211 others(9): Show |
12 | 254 | 0.0472 | -3 | c.465 others(20): Show |
UQCC1 | ENSG00000101019.22 | transcript | ENST00000374385.10 | protein_coding | 6/9 | chr20 | TogoVar | |||||||
UQCC1_chr20_35297578_35416973 | 35398753 | TGGG | T | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00558.hp1 others(123): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(9): Show | a0001c0001t0001g0138 a0001c0001t0001g0181 a0001c0001t0001g0192 others(123): Show |
126 | 156 | 0.8077 | -3 | c.25- others(18): Show |
UQCC1 | ENSG00000101019.22 | transcript | ENST00000374385.10 | protein_coding | 1/9 | chr20 | TogoVar | |||||||
UQCC1_chr20_35297578_35416973 | 35404003 | CGAG | C | intron_variant | MODIFIER | HG00642.hp1 HG01109.hp2 HG01261.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 others(5): Show |
8 | 254 | 0.0315 | -3 | c.24+ others(18): Show |
UQCC1 | ENSG00000101019.22 | transcript | ENST00000374385.10 | protein_coding | 1/9 | chr20 | TogoVar | |||||||
UQCC1_chr20_35297578_35416973 | 35404369 | CAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00558.hp1 others(121): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0002a0002c0002t0001a0002c0002t0002others(5): Show | a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 others(121): Show |
124 | 177 | 0.7006 | -3 | c.24+ others(18): Show |
UQCC1 | ENSG00000101019.22 | transcript | ENST00000374385.10 | protein_coding | 1/9 | chr20 | TogoVar | |||||||
UQCC1_chr20_35297578_35416973 | 35412617 | CAAA | C | upstream_gene_variant | MODIFIER | HG00642.hp1 HG00741.hp2 HG01109.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0201 others(10): Show |
13 | 77 | 0.1688 | -3 | c.-65 others(12): Show |
UQCC1 | ENSG00000101019.22 | transcript | ENST00000374385.10 | protein_coding | 645 | chr20 | TogoVar | |||||||
UQCC2_chr6_33691764_33716700 | 33705029 | ACTT | A | intron_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG01123.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006 | a0001c0001t0004g0018 a0001c0001t0004g0037 a0001c0001t0004g0106 others(2): Show |
15 | 400 | 0.0375 | -3 | c.139 others(20): Show |
UQCC2 | ENSG00000137288.10 | transcript | ENST00000607484.6 | protein_coding | 1/3 | chr6 | TogoVar | |||||||
UQCC2_chr6_33691764_33716700 | 33713598 | GTTT | G | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp2 others(222): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0003a0003c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(55): Show |
225 | 389 | 0.5784 | -3 | c.-19 others(14): Show |
UQCC2 | ENSG00000137288.10 | transcript | ENST00000607484.6 | protein_coding | 1899 | chr6 | TogoVar | |||||||
UQCC3_chr11_62666673_62678686 | 62669475 | TTCA | T | upstream_gene_variant | MODIFIER | HG01243.hp1 HG01496.hp2 HG02486.hp2 others(12): Show |
a0002 | a0002c0002 | a0002c0002t0004a0002c0002t0007a0002c0002t0013 | a0002c0002t0004g0001 a0002c0002t0007g0001 a0002c0002t0013g0001 |
15 | 326 | 0.0460 | -3 | c.-22 others(14): Show |
UQCC3 | ENSG00000204922.5 | transcript | ENST00000377953.4 | protein_coding | 2197 | chr11 | TogoVar | |||||||
UQCC3_chr11_62666673_62678686 | 62672610 | TCTC | T | 3_prime_UTR_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG02258.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0019a0001c0001t0021 | a0001c0001t0006g0001 a0001c0001t0019g0001 a0001c0001t0021g0001 |
17 | 326 | 0.0521 | -3 | c.*49 others(12): Show |
UQCC3 | ENSG00000204922.5 | transcript | ENST00000377953.4 | protein_coding | 2/2 | 499 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
UQCC5_chr3_52531605_52546890 | 52538825 | TTTG | T | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00544.hp2 others(128): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009a0001c0001t0012 | a0001c0001t0002g0002 a0001c0001t0002g0008 a0001c0001t0002g0009 others(9): Show |
131 | 386 | 0.3394 | -3 | c.152 others(20): Show |
UQCC5 | ENSG00000168273.8 | transcript | ENST00000477703.6 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
UQCC6_chr12_103945194_103962215 | 103947409 | TGAA | T | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00558.hp1 others(83): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0016 | a0001c0001t0002g0008 a0001c0001t0002g0015 a0001c0001t0005g0002 others(6): Show |
86 | 460 | 0.1870 | -3 | c.*41 others(14): Show |
UQCC6 | ENSG00000204954.10 | transcript | ENST00000378090.9 | protein_coding | 2784 | chr12 | TogoVar | |||||||
UQCC6_chr12_103945194_103962215 | 103959801 | CTTT | C | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00558.hp1 others(102): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(5): Show | a0001c0001t0001g0001 a0001c0001t0005g0002 a0001c0001t0005g0011 others(16): Show |
105 | 127 | 0.8268 | -3 | c.-27 others(14): Show |
UQCC6 | ENSG00000204954.10 | transcript | ENST00000378090.9 | protein_coding | 2587 | chr12 | TogoVar | |||||||
UQCC6_chr12_103945194_103962215 | 103961537 | TTTG | T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(100): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(3): Show | a0001c0001t0002g0015 a0001c0001t0004g0004 a0001c0001t0004g0023 others(11): Show |
103 | 206 | 0.5000 | -3 | c.-44 others(14): Show |
UQCC6 | ENSG00000204954.10 | transcript | ENST00000378090.9 | protein_coding | 4323 | chr12 | TogoVar | |||||||
UQCR10_chr22_29762369_29775413 | 29774108 | GAAA | G | downstream_gene_variant | MODIFIER | HG01496.hp1 HG02559.hp2 HG02965.hp2 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0005 | 7 | 324 | 0.0216 | -3 | c.*43 others(14): Show |
UQCR10 | ENSG00000184076.13 | transcript | ENST00000330029.6 | protein_coding | 3696 | chr22 | TogoVar | |||||||
UQCRB_chr8_96217947_96240545 | 96222860 | AAAT | A | downstream_gene_variant | MODIFIER | HG02109.hp2 HG02145.hp1 HG02895.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0069 | a0001c0001t0013g0011 a0001c0001t0069g0065 |
8 | 382 | 0.0209 | -3 | c.*81 others(14): Show |
UQCRB | ENSG00000156467.10 | transcript | ENST00000287022.10 | protein_coding | 86 | chr8 | TogoVar | |||||||
UQCRB_chr8_96217947_96240545 | 96233111 | AAAC | A | intron_variant | MODIFIER | HG02145.hp2 HG02717.hp2 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0026a0001c0001t0065 | a0001c0001t0026g0029 a0001c0001t0065g0051 |
3 | 382 | 0.0079 | -3 | c.91+ others(14): Show |
UQCRB | ENSG00000156467.10 | transcript | ENST00000287022.10 | protein_coding | 2/3 | chr8 | TogoVar | |||||||
UQCRFS1_chr19_29200320_29218151 | 29200901 | CTCT | C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00438.hp1 others(49): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0018 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(5): Show |
52 | 434 | 0.1198 | -3 | c.*66 others(14): Show |
UQCRFS1 | ENSG00000169021.6 | transcript | ENST00000304863.6 | protein_coding | 4418 | chr19 | TogoVar | |||||||
UQCRH_chr1_46298698_46321776 | 46301908 | AGAG | A | upstream_gene_variant | MODIFIER | HG00544.hp2 HG02717.hp2 HG03834.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 others(2): Show |
5 | 432 | 0.0116 | -3 | c.-18 others(14): Show |
UQCRH | ENSG00000173660.12 | transcript | ENST00000311672.10 | protein_coding | 1789 | chr1 | TogoVar | |||||||
UQCRH_chr1_46298698_46321776 | 46304387 | ATTT | A | intron_variant | MODIFIER | HG00544.hp2 HG02717.hp2 HG03453.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0052 others(6): Show |
11 | 14 | 0.7857 | -3 | c.54+ others(16): Show |
UQCRH | ENSG00000173660.12 | transcript | ENST00000311672.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
URAD_chr13_27972717_27993693 | 27988963 | CTTT | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(73): Show |
a0001a0004a0005 | a0001c0001a0004c0004a0005c0006 | a0001c0001t0001a0001c0001t0002a0004c0004t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(27): Show |
76 | 107 | 0.7103 | -3 | c.-32 others(12): Show |
URAD | ENSG00000183463.7 | transcript | ENST00000332715.6 | protein_coding | 271 | chr13 | TogoVar | |||||||
URAD_chr13_27972717_27993693 | 27993671 | AAAC | A | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(74): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0009 others(23): Show |
77 | 426 | 0.1808 | -3 | c.-50 others(14): Show |
URAD | ENSG00000183463.7 | transcript | ENST00000332715.6 | protein_coding | 4979 | chr13 | TogoVar | |||||||
URB1_chr21_32306018_32398012 | 32326048 | AGAG | A | intron_variant | MODIFIER | HG01109.hp1 HG02109.hp1 HG02257.hp2 others(10): Show |
a0001a0003a0009others(1): Show | a0001c0008a0001c0048a0001c0056others(3): Show | a0001c0008t0006a0001c0008t0020a0001c0048t0017others(4): Show | a0001c0008t0006g0017 a0001c0008t0006g0280 a0001c0008t0006g0281 others(7): Show |
13 | 336 | 0.0387 | -3 | c.496 others(20): Show |
URB1 | ENSG00000142207.7 | transcript | ENST00000382751.4 | protein_coding | 30/38 | chr21 | TogoVar | |||||||
URB1_chr21_32306018_32398012 | 32330197 | GTTT | G | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00408.hp2 others(97): Show |
a0001a0002a0008others(7): Show | a0001c0001a0001c0002a0001c0008others(19): Show | a0001c0001t0001a0001c0002t0003a0001c0008t0006others(27): Show | a0001c0001t0001g0149 a0001c0002t0003g0003 a0001c0002t0003g0014 others(90): Show |
100 | 159 | 0.6289 | -3 | c.496 others(22): Show |
URB1 | ENSG00000142207.7 | transcript | ENST00000382751.4 | protein_coding | 30/38 | chr21 | TogoVar | |||||||
URB1_chr21_32306018_32398012 | 32369975 | CAAA | C | intron_variant | MODIFIER | HG00639.hp1 HG00741.hp2 HG02630.hp1 others(8): Show |
a0001a0003a0004others(1): Show | a0001c0009a0003c0003a0004c0045others(2): Show | a0001c0009t0013a0001c0009t0048a0003c0003t0004others(4): Show | a0001c0009t0013g0086 a0001c0009t0013g0088 a0001c0009t0013g0089 others(8): Show |
11 | 164 | 0.0671 | -3 | c.100 others(22): Show |
URB1 | ENSG00000142207.7 | transcript | ENST00000382751.4 | protein_coding | 8/38 | chr21 | TogoVar | |||||||
URB1_chr21_32306018_32398012 | 32373550 | ACTT | A | intron_variant | MODIFIER | HG01106.hp2 HG01884.hp2 HG01952.hp2 others(4): Show |
a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0024 a0003c0003t0004g0045 a0003c0003t0004g0049 others(4): Show |
7 | 336 | 0.0208 | -3 | c.876 others(16): Show |
URB1 | ENSG00000142207.7 | transcript | ENST00000382751.4 | protein_coding | 7/38 | chr21 | TogoVar | |||||||
URB1_chr21_32306018_32398012 | 32385012 | AAAG | A | intron_variant | MODIFIER | HG00639.hp1 HG00733.hp1 HG01106.hp2 others(42): Show |
a0001a0003a0017others(2): Show | a0001c0002a0003c0003a0003c0015others(5): Show | a0001c0002t0016a0003c0003t0004a0003c0003t0009others(11): Show | a0001c0002t0016g0316 a0003c0003t0004g0001 a0003c0003t0004g0024 others(39): Show |
45 | 336 | 0.1339 | -3 | c.282 others(18): Show |
URB1 | ENSG00000142207.7 | transcript | ENST00000382751.4 | protein_coding | 2/38 | chr21 | TogoVar | |||||||
URB2_chr1_229621247_229665200 | 229644940 | CTTA | C | intron_variant | MODIFIER | HG02280.hp2 HG02559.hp2 HG02572.hp2 others(8): Show |
a0002 | a0002c0003a0002c0004a0002c0015 | a0002c0003t0001a0002c0004t0001a0002c0015t0001 | a0002c0003t0001g0010 a0002c0003t0001g0072 a0002c0003t0001g0073 others(5): Show |
11 | 354 | 0.0311 | -3 | c.379 others(20): Show |
URB2 | ENSG00000135763.10 | transcript | ENST00000258243.7 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
URGCP_chr7_43870913_43911596 | 43885510 | GAAC | G | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00423.hp2 others(91): Show |
a0001a0002a0003others(3): Show | a0001c0003a0002c0001a0002c0013others(5): Show | a0001c0003t0001a0002c0001t0001a0002c0001t0007others(8): Show | a0001c0003t0001g0212 a0002c0001t0001g0002 a0002c0001t0001g0003 others(58): Show |
94 | 402 | 0.2338 | -3 | c.112 others(20): Show |
URGCP | ENSG00000106608.17 | transcript | ENST00000453200.6 | protein_coding | 3/5 | chr7 | TogoVar | |||||||
URGCP_chr7_43870913_43911596 | 43889907 | ATTT | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00639.hp1 others(18): Show |
a0001a0002 | a0001c0004a0002c0001 | a0001c0004t0001a0002c0001t0001 | a0001c0004t0001g0013 a0001c0004t0001g0024 a0001c0004t0001g0025 others(13): Show |
21 | 347 | 0.0605 | -3 | c.15- others(18): Show |
URGCP | ENSG00000106608.17 | transcript | ENST00000453200.6 | protein_coding | 1/5 | chr7 | TogoVar | |||||||
URGCP_chr7_43870913_43911596 | 43900466 | AAAC | A | intron_variant | MODIFIER | HG02015.hp2 NA18943.hp2 NA18970.hp2 others(10): Show |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0008 a0001c0003t0003g0039 a0001c0003t0003g0187 others(4): Show |
13 | 402 | 0.0323 | -3 | c.14+ others(18): Show |
URGCP | ENSG00000106608.17 | transcript | ENST00000453200.6 | protein_coding | 1/5 | chr7 | TogoVar | |||||||
URGCP_chr7_43870913_43911596 | 43910382 | ATTT | A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00438.hp1 others(104): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0003a0002c0001others(4): Show | a0001c0002t0002a0001c0003t0001a0002c0001t0001others(7): Show | a0001c0002t0002g0221 a0001c0003t0001g0212 a0002c0001t0001g0002 others(69): Show |
107 | 244 | 0.4385 | -3 | c.-38 others(14): Show |
URGCP | ENSG00000106608.17 | transcript | ENST00000453200.6 | protein_coding | 3787 | chr7 | TogoVar | |||||||
URI1_chr19_29937239_30021612 | 29942039 | CAAA | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(298): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0006others(7): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0011others(16): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(294): Show |
301 | 320 | 0.9406 | -3 | c.-50 others(12): Show |
URI1 | ENSG00000105176.18 | transcript | ENST00000392271.6 | protein_coding | 199 | chr19 | TogoVar | |||||||
URI1_chr19_29937239_30021612 | 29968565 | CTTT | C | intron_variant | MODIFIER | HG01975.hp1 HG02004.hp1 HG02055.hp1 others(13): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0015a0003c0003t0001others(2): Show | a0001c0001t0001g0077 a0001c0001t0001g0141 a0001c0001t0001g0145 others(13): Show |
16 | 87 | 0.1839 | -3 | c.118 others(20): Show |
URI1 | ENSG00000105176.18 | transcript | ENST00000392271.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
URI1_chr19_29937239_30021612 | 30009211 | GTGA | G | disruptive_inframe_deletion | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(202): Show |
a0001a0004a0005 | a0001c0001a0001c0004a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0011others(9): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(199): Show |
205 | 324 | 0.6327 | -3 | c.918 others(10): Show |
p.Asp others(6): Show |
URI1 | ENSG00000105176.18 | transcript | ENST00000392271.6 | protein_coding | 8/11 | 1227/3460 | 918/1608 | 306/535 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
URM1_chr9_128366374_128397016 | 128388686 | AATG | A | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG01099.hp1 others(66): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0005a0001c0001t0017others(1): Show | a0001c0001t0002g0002 a0001c0001t0002g0008 a0001c0001t0002g0011 others(26): Show |
69 | 342 | 0.2018 | -3 | c.189 others(18): Show |
URM1 | ENSG00000167118.11 | transcript | ENST00000372853.9 | protein_coding | 3/4 | chr9 | TogoVar | |||||||
URM1_chr9_128366374_128397016 | 128395694 | CAAA | C | downstream_gene_variant | MODIFIER | HG02486.hp1 HG02559.hp1 HG02922.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007 | a0001c0001t0004g0033 a0001c0001t0004g0034 a0001c0001t0004g0071 others(4): Show |
7 | 68 | 0.1029 | -3 | c.*59 others(14): Show |
URM1 | ENSG00000167118.11 | transcript | ENST00000372853.9 | protein_coding | 3679 | chr9 | TogoVar | |||||||
UROC1_chr3_126476166_126522773 | 126507132 | CTTT | C | intron_variant | MODIFIER | HG00733.hp2 HG01175.hp2 HG02622.hp2 |
a0001a0011 | a0001c0002a0011c0020 | a0001c0002t0001a0011c0020t0002 | a0001c0002t0001g0018 a0011c0020t0002g0045 |
3 | 378 | 0.0079 | -3 | c.602 others(18): Show |
UROC1 | ENSG00000159650.9 | transcript | ENST00000290868.7 | protein_coding | 6/19 | chr3 | TogoVar | |||||||
USE1_chr19_17210357_17224829 | 17221459 | CAAA | C | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00438.hp1 others(95): Show |
a0001 | a0001c0001a0001c0006a0001c0007 | a0001c0001t0001a0001c0006t0001a0001c0007t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(14): Show |
98 | 315 | 0.3111 | -3 | c.*16 others(14): Show |
USE1 | ENSG00000053501.14 | transcript | ENST00000263897.10 | protein_coding | 1631 | chr19 | TogoVar | |||||||
USF1_chr1_161034251_161050977 | 161043620 | CTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(151): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(4): Show | a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0025 others(25): Show |
154 | 361 | 0.4266 | -3 | c.-85 others(18): Show |
USF1 | ENSG00000158773.14 | transcript | ENST00000368021.7 | protein_coding | 1/10 | chr1 | TogoVar | |||||||
USF2_chr19_35263962_35284821 | 35268888 | TGCG | T | upstream_gene_variant | MODIFIER | HG02622.hp1 HG02717.hp2 HG02896.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0007a0001c0001t0017others(2): Show | a0001c0001t0002g0056 a0001c0001t0007g0018 a0001c0001t0007g0019 others(5): Show |
11 | 423 | 0.0260 | -3 | c.-21 others(12): Show |
USF2 | ENSG00000105698.16 | transcript | ENST00000222305.8 | protein_coding | 73 | chr19 | TogoVar | |||||||
USF3_chr3_113643385_113701642 | 113657263 | TTGC | T | disruptive_inframe_deletion | MODERATE | HG00323.hp1 HG00408.hp1 HG00408.hp2 others(159): Show |
a0001a0013a0016others(2): Show | a0001c0001a0001c0002a0001c0014others(8): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(41): Show | a0001c0001t0002g0159 a0001c0001t0002g0249 a0001c0001t0002g0250 others(135): Show |
162 | 192 | 0.8438 | -3 | c.441 others(12): Show |
p.Gln others(7): Show |
USF3 | ENSG00000176542.10 | transcript | ENST00000316407.9 | protein_coding | 7/7 | 4825/13704 | 4416/6738 | 1472/2245 | chr3 | TogoVar | |||
USF3_chr3_113643385_113701642 | 113687263 | ACAC | A | intron_variant | MODIFIER | HG01123.hp1 HG03516.hp1 HG03654.hp2 others(1): Show |
a0001 | a0001c0002a0001c0014 | a0001c0002t0002a0001c0014t0064 | a0001c0002t0002g0006 a0001c0002t0002g0283 a0001c0014t0064g0278 |
4 | 337 | 0.0119 | -3 | c.-13 others(22): Show |
USF3 | ENSG00000176542.10 | transcript | ENST00000316407.9 | protein_coding | 1/6 | chr3 | TogoVar | |||||||
USF3_chr3_113643385_113701642 | 113692416 | GAAA | G | intron_variant | MODIFIER | HG01106.hp1 HG02895.hp1 HG02897.hp1 others(5): Show |
a0003 | a0003c0005 | a0003c0005t0018a0003c0005t0035a0003c0005t0084others(1): Show | a0003c0005t0018g0130 a0003c0005t0018g0131 a0003c0005t0018g0132 others(5): Show |
8 | 340 | 0.0235 | -3 | c.-13 others(22): Show |
USF3 | ENSG00000176542.10 | transcript | ENST00000316407.9 | protein_coding | 1/6 | chr3 | TogoVar | |||||||
USH1C_chr11_17488900_17549416 | 17514797 | CTTT | C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(167): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0003a0001c0004others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0009 others(146): Show |
170 | 312 | 0.5449 | -3 | c.126 others(22): Show |
USH1C | ENSG00000006611.17 | transcript | ENST00000005226.12 | protein_coding | 15/26 | chr11 | TogoVar | |||||||
USH1C_chr11_17488900_17549416 | 17515016 | TTTA | T | intron_variant | MODIFIER | HG02451.hp1 HG02451.hp2 HG02965.hp1 others(1): Show |
a0009a0010a0013others(1): Show | a0009c0045a0010c0025a0013c0032others(1): Show | a0009c0045t0016a0010c0025t0001a0013c0032t0002others(1): Show | a0009c0045t0016g0157 a0010c0025t0001g0203 a0013c0032t0002g0247 others(1): Show |
4 | 360 | 0.0111 | -3 | c.126 others(22): Show |
USH1C | ENSG00000006611.17 | transcript | ENST00000005226.12 | protein_coding | 15/26 | chr11 | TogoVar | |||||||
USH1C_chr11_17488900_17549416 | 17544914 | ATTT | A | upstream_gene_variant | MODIFIER | HG01255.hp1 HG01884.hp1 HG02451.hp1 others(5): Show |
a0001a0002a0005others(2): Show | a0001c0021a0001c0042a0002c0015others(4): Show | a0001c0021t0002a0001c0042t0001a0002c0015t0001others(5): Show | a0001c0021t0002g0160 a0001c0042t0001g0033 a0002c0015t0001g0035 others(5): Show |
8 | 184 | 0.0435 | -3 | c.-61 others(12): Show |
USH1C | ENSG00000006611.17 | transcript | ENST00000005226.12 | protein_coding | 499 | chr11 | TogoVar | |||||||
USH1C_chr11_17488900_17549416 | 17546508 | CCAT | C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG01070.hp2 HG01167.hp1 others(38): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0003a0001c0007others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(18): Show | a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0164 others(38): Show |
41 | 360 | 0.1139 | -3 | c.-22 others(14): Show |
USH1C | ENSG00000006611.17 | transcript | ENST00000005226.12 | protein_coding | 2093 | chr11 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 215665782 | ATCT | A | intron_variant | MODIFIER | HG03195.hp1 HG03453.hp2 |
a0046a0051 | a0046c0007a0051c0035 | a0046c0007t0001a0051c0035t0001 | a0046c0007t0001g0010 a0051c0035t0001g0025 |
2 | 72 | 0.0278 | -3 | c.141 others(24): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 64/71 | chr1 | TogoVar |