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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATRIP_chr3_48441737_48472645 | 48465049 | C | T | synonymous_variant | LOW | HG01109.hp1 HG01243.hp2 HG02572.hp2 others(4): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0007 | a0001c0003t0001g0090a0001c0003t0007g0017a0001c0003t0007g0027others(1): Show | 7 | 360 | 0.0194 | 0 | c.227 others(4): Show |
p.Leu others(6): Show |
ATRIP | ENSG00000164053.22 | transcript | ENST00000320211.10 | protein_coding | 12/13 | 2383/4576 | 2274/2376 | 758/791 | chr3 | TogoVar | ||
ATRNL1_chr10_115088365_115953999 | 115093933 | G | A | synonymous_variant | LOW | HG04115.hp2 | a0001 | a0001c0009 | a0001c0009t0005 | a0001c0009t0005g0059 | 1 | 128 | 0.0078 | 0 | c.183 others(3): Show |
p.Lys others(5): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 1/29 | 569/8746 | 183/4140 | 61/1379 | chr10 | TogoVar | ||
ATRNL1_chr10_115088365_115953999 | 115093960 | C | T | synonymous_variant | LOW | NA18959.hp1 | a0001 | a0001c0016 | a0001c0016t0003 | a0001c0016t0003g0097 | 1 | 128 | 0.0078 | 0 | c.210 others(3): Show |
p.Phe others(5): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 1/29 | 596/8746 | 210/4140 | 70/1379 | chr10 | TogoVar | ||
ATRNL1_chr10_115088365_115953999 | 115127689 | G | T | synonymous_variant | LOW | HG02572.hp2 | a0001 | a0001c0015 | a0001c0015t0034 | a0001c0015t0034g0110 | 1 | 128 | 0.0078 | 0 | c.588 others(3): Show |
p.Ala others(6): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 4/29 | 974/8746 | 588/4140 | 196/1379 | chr10 | TogoVar | ||
ATRNL1_chr10_115088365_115953999 | 115129510 | A | G | synonymous_variant | LOW | HG01071.hp2 HG01109.hp1 HG02723.hp1 |
a0002 | a0002c0008a0002c0014 | a0002c0008t0011a0002c0008t0044a0002c0014t0009 | a0002c0008t0011g0073a0002c0008t0044g0063a0002c0014t0009g0072 | 3 | 128 | 0.0234 | 0 | c.804 others(3): Show |
p.Leu others(6): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 5/29 | 1190/8746 | 804/4140 | 268/1379 | chr10 | TogoVar | ||
ATRNL1_chr10_115088365_115953999 | 115268393 | C | T | synonymous_variant | LOW | HG00639.hp2 HG02717.hp1 HG02723.hp2 others(5): Show |
a0001 | a0001c0005a0001c0007 | a0001c0005t0007a0001c0005t0018a0001c0005t0021others(3): Show | a0001c0005t0007g0002a0001c0005t0007g0004a0001c0005t0007g0009others(5): Show | 8 | 128 | 0.0625 | 0 | c.204 others(4): Show |
p.Cys others(6): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 13/29 | 2435/8746 | 2049/4140 | 683/1379 | chr10 | TogoVar | ||
ATRNL1_chr10_115088365_115953999 | 115281393 | G | A | synonymous_variant | LOW | HG03453.hp1 | a0001 | a0001c0010 | a0001c0010t0006 | a0001c0010t0006g0087 | 1 | 128 | 0.0078 | 0 | c.213 others(4): Show |
p.Glu others(6): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 14/29 | 2525/8746 | 2139/4140 | 713/1379 | chr10 | TogoVar | ||
ATRNL1_chr10_115088365_115953999 | 115286244 | T | C | synonymous_variant | LOW | HG03486.hp2 | a0001 | a0001c0011 | a0001c0011t0002 | a0001c0011t0002g0116 | 1 | 128 | 0.0078 | 0 | c.226 others(4): Show |
p.His others(6): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 15/29 | 2648/8746 | 2262/4140 | 754/1379 | chr10 | TogoVar | ||
ATRNL1_chr10_115088365_115953999 | 115467203 | T | C | synonymous_variant | LOW | HG00639.hp1 HG03239.hp2 |
a0001 | a0001c0012a0001c0013 | a0001c0012t0001a0001c0013t0009 | a0001c0012t0001g0071a0001c0013t0009g0078 | 2 | 128 | 0.0156 | 0 | c.344 others(4): Show |
p.Asn others(7): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 23/29 | 3833/8746 | 3447/4140 | 1149/1379 | chr10 | TogoVar | ||
ATRNL1_chr10_115088365_115953999 | 115469284 | A | G | synonymous_variant | LOW | HG00639.hp1 HG00735.hp1 HG00738.hp1 others(41): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0009others(5): Show | a0001c0002t0001a0001c0002t0004a0001c0002t0005others(22): Show | a0001c0002t0001g0041a0001c0002t0001g0045a0001c0002t0001g0048others(41): Show | 44 | 128 | 0.3438 | 0 | c.360 others(4): Show |
p.Thr others(7): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 24/29 | 3995/8746 | 3609/4140 | 1203/1379 | chr10 | TogoVar | ||
ATRNL1_chr10_115088365_115953999 | 115727253 | G | T | synonymous_variant | LOW | HG00738.hp1 HG00741.hp1 HG01071.hp1 others(28): Show |
a0001 | a0001c0002a0001c0006a0001c0007others(3): Show | a0001c0002t0001a0001c0002t0004a0001c0002t0005others(10): Show | a0001c0002t0001g0041a0001c0002t0001g0045a0001c0002t0001g0048others(28): Show | 31 | 128 | 0.2422 | 0 | c.380 others(4): Show |
p.Leu others(7): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 27/29 | 4187/8746 | 3801/4140 | 1267/1379 | chr10 | TogoVar | ||
ATRN_chr20_3466018_3656118 | 3471261 | C | T | synonymous_variant | LOW | HG01884.hp2 HG02055.hp2 HG02109.hp2 others(16): Show |
a0001a0002 | a0001c0013a0001c0014a0002c0004others(1): Show | a0001c0013t0008a0001c0013t0017a0001c0013t0026others(8): Show | a0001c0013t0008g0171a0001c0013t0017g0149a0001c0013t0026g0169others(16): Show | 19 | 220 | 0.0864 | 0 | c.154 others(3): Show |
p.Leu others(5): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 1/29 | 244/8651 | 154/4290 | 52/1429 | chr20 | TogoVar | ||
ATRN_chr20_3466018_3656118 | 3535277 | G | A | synonymous_variant | LOW | HG00140.hp2 HG00639.hp1 HG00733.hp2 others(54): Show |
a0001a0002a0003others(6): Show | a0001c0003a0001c0005a0001c0006others(13): Show | a0001c0003t0002a0001c0003t0005a0001c0003t0007others(28): Show | a0001c0003t0002g0214a0001c0003t0002g0215a0001c0003t0002g0216others(54): Show | 57 | 220 | 0.2591 | 0 | c.435 others(3): Show |
p.Val others(6): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 2/29 | 525/8651 | 435/4290 | 145/1429 | chr20 | TogoVar | ||
ATRN_chr20_3466018_3656118 | 3535304 | C | T | synonymous_variant | LOW | HG00140.hp2 HG00639.hp1 HG00733.hp2 others(54): Show |
a0001a0002a0003others(6): Show | a0001c0003a0001c0005a0001c0006others(13): Show | a0001c0003t0002a0001c0003t0005a0001c0003t0007others(28): Show | a0001c0003t0002g0214a0001c0003t0002g0215a0001c0003t0002g0216others(54): Show | 57 | 220 | 0.2591 | 0 | c.462 others(3): Show |
p.Tyr others(6): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 2/29 | 552/8651 | 462/4290 | 154/1429 | chr20 | TogoVar | ||
ATRN_chr20_3466018_3656118 | 3584025 | C | T | synonymous_variant | LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(165): Show |
a0001a0004a0006others(7): Show | a0001c0001a0001c0002a0001c0007others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(45): Show | a0001c0001t0001g0003a0001c0001t0001g0013a0001c0001t0001g0014others(165): Show | 168 | 220 | 0.7636 | 0 | c.289 others(4): Show |
p.Tyr others(6): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 17/29 | 2982/8651 | 2892/4290 | 964/1429 | chr20 | TogoVar | ||
ATRN_chr20_3466018_3656118 | 3644183 | G | A | synonymous_variant | LOW | HG00099.hp1 HG00323.hp1 HG00738.hp2 others(86): Show |
a0001a0002a0003others(7): Show | a0001c0002a0001c0006a0001c0007others(10): Show | a0001c0002t0003a0001c0002t0004a0001c0002t0006others(28): Show | a0001c0002t0003g0023a0001c0002t0003g0028a0001c0002t0003g0034others(86): Show | 89 | 220 | 0.4046 | 0 | c.408 others(4): Show |
p.Pro others(7): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 28/29 | 4170/8651 | 4080/4290 | 1360/1429 | chr20 | TogoVar | ||
ATRN_chr20_3466018_3656118 | 3644201 | C | T | synonymous_variant | LOW | HG00733.hp2 HG01081.hp1 HG01106.hp2 others(6): Show |
a0001a0003a0010 | a0001c0005a0003c0018a0010c0023 | a0001c0005t0007a0001c0005t0038a0003c0018t0007others(1): Show | a0001c0005t0007g0181a0001c0005t0007g0183a0001c0005t0007g0184others(6): Show | 9 | 220 | 0.0409 | 0 | c.409 others(4): Show |
p.Ala others(7): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 28/29 | 4188/8651 | 4098/4290 | 1366/1429 | chr20 | TogoVar | ||
ATRX_chrX_77499880_77791216 | 77635955 | A | G | synonymous_variant | LOW | HG00738.hp1 HG02559.hp1 HG02922.hp2 others(8): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0003 | a0001c0003t0001g0080a0001c0003t0001g0094a0001c0003t0001g0095others(8): Show | 11 | 218 | 0.0505 | 0 | c.465 others(4): Show |
p.His others(7): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 16/35 | 4874/11165 | 4659/7479 | 1553/2492 | chrX | TogoVar | ||
ATRX_chrX_77499880_77791216 | 77635979 | G | T | synonymous_variant | LOW | HG03225.hp1 | a0001 | a0001c0007 | a0001c0007t0005 | a0001c0007t0005g0079 | 1 | 218 | 0.0046 | 0 | c.463 others(4): Show |
p.Thr others(7): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 16/35 | 4850/11165 | 4635/7479 | 1545/2492 | chrX | TogoVar | ||
ATRX_chrX_77499880_77791216 | 77654176 | T | C | synonymous_variant | LOW | HG02717.hp1 | a0001 | a0001c0010 | a0001c0010t0006 | a0001c0010t0006g0197 | 1 | 218 | 0.0046 | 0 | c.423 others(4): Show |
p.Glu others(7): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 14/35 | 4454/11165 | 4239/7479 | 1413/2492 | chrX | TogoVar | ||
ATRX_chrX_77499880_77791216 | 77683789 | G | A | synonymous_variant | LOW | HG01255.hp1 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0111 | 1 | 218 | 0.0046 | 0 | c.146 others(4): Show |
p.Thr others(6): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 9/35 | 1682/11165 | 1467/7479 | 489/2492 | chrX | TogoVar | ||
ATRX_chrX_77499880_77791216 | 77684947 | T | C | synonymous_variant | LOW | HG02683.hp1 | a0001 | a0001c0013 | a0001c0013t0002 | a0001c0013t0002g0212 | 1 | 218 | 0.0046 | 0 | c.654 others(3): Show |
p.Glu others(6): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 8/35 | 869/11165 | 654/7479 | 218/2492 | chrX | TogoVar | ||
ATRX_chrX_77499880_77791216 | 77696659 | T | C | synonymous_variant | LOW | HG01256.hp1 HG01496.hp1 HG01928.hp1 others(2): Show |
a0002 | a0002c0004 | a0002c0004t0001a0002c0004t0003 | a0002c0004t0001g0009a0002c0004t0001g0023a0002c0004t0001g0031others(2): Show | 5 | 218 | 0.0229 | 0 | c.288 others(3): Show |
p.Lys others(5): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 5/35 | 503/11165 | 288/7479 | 96/2492 | chrX | TogoVar | ||
ATRX_chrX_77499880_77791216 | 77697597 | C | T | synonymous_variant | LOW | HG02615.hp2 HG02809.hp2 HG02970.hp2 others(1): Show |
a0001 | a0001c0005a0001c0007 | a0001c0005t0005a0001c0007t0005 | a0001c0005t0005g0076a0001c0005t0005g0081a0001c0005t0005g0082others(1): Show | 4 | 218 | 0.0184 | 0 | c.228 others(3): Show |
p.Ser others(5): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 4/35 | 443/11165 | 228/7479 | 76/2492 | chrX | TogoVar | ||
ATRX_chrX_77499880_77791216 | 77697603 | T | C | synonymous_variant | LOW | HG01943.hp1 | a0001 | a0001c0014 | a0001c0014t0012 | a0001c0014t0012g0003 | 1 | 218 | 0.0046 | 0 | c.222 others(3): Show |
p.Ser others(5): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 4/35 | 437/11165 | 222/7479 | 74/2492 | chrX | TogoVar | ||
ATR_chr3_142444235_142583733 | 142449489 | C | T | synonymous_variant | LOW | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(298): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0004a0001c0006others(15): Show | a0001c0001t0001a0001c0004t0001a0001c0004t0002others(16): Show | a0001c0001t0001g0005a0001c0001t0001g0026a0001c0001t0001g0032others(296): Show | 301 | 322 | 0.9348 | 0 | c.787 others(4): Show |
p.Gln others(7): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 47/47 | 7904/8158 | 7875/7935 | 2625/2644 | chr3 | TogoVar | ||
ATR_chr3_142444235_142583733 | 142469550 | T | C | synonymous_variant | LOW | HG01496.hp2 HG02055.hp1 HG02109.hp1 others(3): Show |
a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0197a0001c0008t0001g0198a0001c0008t0001g0199others(3): Show | 6 | 322 | 0.0186 | 0 | c.633 others(4): Show |
p.Val others(7): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 38/47 | 6368/8158 | 6339/7935 | 2113/2644 | chr3 | TogoVar | ||
ATR_chr3_142444235_142583733 | 142496391 | G | A | synonymous_variant | LOW | HG00099.hp1 | a0008 | a0008c0012 | a0008c0012t0001 | a0008c0012t0001g0313 | 1 | 322 | 0.0031 | 0 | c.586 others(4): Show |
p.Tyr others(7): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 34/47 | 5897/8158 | 5868/7935 | 1956/2644 | chr3 | TogoVar | ||
ATR_chr3_142444235_142583733 | 142498695 | A | G | synonymous_variant | LOW | HG00099.hp2 HG00280.hp2 HG00741.hp2 others(9): Show |
a0002 | a0002c0007a0002c0016 | a0002c0007t0001a0002c0016t0001 | a0002c0007t0001g0002a0002c0007t0001g0219a0002c0007t0001g0227others(8): Show | 12 | 322 | 0.0373 | 0 | c.546 others(4): Show |
p.Tyr others(7): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 32/47 | 5489/8158 | 5460/7935 | 1820/2644 | chr3 | TogoVar | ||
ATR_chr3_142444235_142583733 | 142503442 | A | G | synonymous_variant | LOW | HG00280.hp1 HG00438.hp2 HG00597.hp1 others(112): Show |
a0001a0011 | a0001c0001a0011c0019 | a0001c0001t0001a0011c0019t0001 | a0001c0001t0001g0005a0001c0001t0001g0026a0001c0001t0001g0032others(112): Show | 115 | 322 | 0.3571 | 0 | c.520 others(4): Show |
p.Tyr others(7): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 30/47 | 5237/8158 | 5208/7935 | 1736/2644 | chr3 | TogoVar | ||
ATR_chr3_142444235_142583733 | 142524143 | C | T | synonymous_variant | LOW | HG02970.hp1 | a0010 | a0010c0014 | a0010c0014t0001 | a0010c0014t0001g0031 | 1 | 322 | 0.0031 | 0 | c.400 others(4): Show |
p.Gln others(7): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 22/47 | 4031/8158 | 4002/7935 | 1334/2644 | chr3 | TogoVar | ||
ATR_chr3_142444235_142583733 | 142549530 | C | T | synonymous_variant | LOW | HG00099.hp1 | a0008 | a0008c0012 | a0008c0012t0001 | a0008c0012t0001g0313 | 1 | 322 | 0.0031 | 0 | c.312 others(4): Show |
p.Leu others(7): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 15/47 | 3149/8158 | 3120/7935 | 1040/2644 | chr3 | TogoVar | ||
ATR_chr3_142444235_142583733 | 142553344 | C | T | synonymous_variant | LOW | NA18947.hp2 NA18948.hp1 |
a0002 | a0002c0010 | a0002c0010t0001 | a0002c0010t0001g0230a0002c0010t0001g0306 | 2 | 322 | 0.0062 | 0 | c.268 others(4): Show |
p.Leu others(6): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 13/47 | 2717/8158 | 2688/7935 | 896/2644 | chr3 | TogoVar | ||
ATR_chr3_142444235_142583733 | 142553915 | T | C | synonymous_variant | LOW | HG00642.hp2 HG00738.hp1 HG01123.hp2 others(14): Show |
a0001a0012 | a0001c0006a0012c0021 | a0001c0006t0001a0012c0021t0001 | a0001c0006t0001g0006a0001c0006t0001g0007a0001c0006t0001g0008others(14): Show | 17 | 322 | 0.0528 | 0 | c.244 others(4): Show |
p.Glu others(6): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 11/47 | 2471/8158 | 2442/7935 | 814/2644 | chr3 | TogoVar | ||
ATR_chr3_142444235_142583733 | 142556511 | C | T | synonymous_variant | LOW | HG00099.hp1 | a0008 | a0008c0012 | a0008c0012t0001 | a0008c0012t0001g0313 | 1 | 322 | 0.0031 | 0 | c.195 others(4): Show |
p.Glu others(6): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 9/47 | 1979/8158 | 1950/7935 | 650/2644 | chr3 | TogoVar | ||
ATR_chr3_142444235_142583733 | 142558694 | A | G | synonymous_variant | LOW | HG00280.hp1 HG00438.hp2 HG00597.hp1 others(112): Show |
a0001a0011 | a0001c0001a0011c0019 | a0001c0001t0001a0011c0019t0001 | a0001c0001t0001g0005a0001c0001t0001g0026a0001c0001t0001g0032others(112): Show | 115 | 322 | 0.3571 | 0 | c.181 others(4): Show |
p.Asp others(6): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 8/47 | 1844/8158 | 1815/7935 | 605/2644 | chr3 | TogoVar | ||
ATR_chr3_142444235_142583733 | 142558733 | A | T | synonymous_variant | LOW | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(206): Show |
a0001a0003a0004others(5): Show | a0001c0001a0001c0004a0001c0006others(8): Show | a0001c0001t0001a0001c0004t0001a0001c0004t0002others(9): Show | a0001c0001t0001g0005a0001c0001t0001g0026a0001c0001t0001g0032others(205): Show | 209 | 322 | 0.6491 | 0 | c.177 others(4): Show |
p.Gly others(6): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 8/47 | 1805/8158 | 1776/7935 | 592/2644 | chr3 | TogoVar | ||
ATR_chr3_142444235_142583733 | 142561266 | T | C | synonymous_variant | LOW | HG00099.hp1 | a0008 | a0008c0012 | a0008c0012t0001 | a0008c0012t0001g0313 | 1 | 322 | 0.0031 | 0 | c.132 others(4): Show |
p.Lys others(6): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 5/47 | 1355/8158 | 1326/7935 | 442/2644 | chr3 | TogoVar | ||
ATR_chr3_142444235_142583733 | 142562586 | T | C | synonymous_variant | LOW | HG06807.hp2 | a0002 | a0002c0018 | a0002c0018t0001 | a0002c0018t0001g0145 | 1 | 322 | 0.0031 | 0 | c.816 others(3): Show |
p.Ser others(6): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 4/47 | 845/8158 | 816/7935 | 272/2644 | chr3 | TogoVar | ||
ATR_chr3_142444235_142583733 | 142568097 | T | C | synonymous_variant | LOW | HG02129.hp1 | a0002 | a0002c0020 | a0002c0020t0001 | a0002c0020t0001g0314 | 1 | 322 | 0.0031 | 0 | c.117 others(3): Show |
p.Gln others(5): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 2/47 | 146/8158 | 117/7935 | 39/2644 | chr3 | TogoVar | ||
ATXN1L_chr16_71840976_71862328 | 71850034 | A | G | synonymous_variant | LOW | NA19004.hp1 | a0001 | a0001c0013 | a0001c0013t0002 | a0001c0013t0002g0002 | 1 | 418 | 0.0024 | 0 | c.294 others(3): Show |
p.Pro others(5): Show |
ATXN1L | ENSG00000224470.9 | transcript | ENST00000427980.7 | protein_coding | 3/3 | 602/7896 | 294/2070 | 98/689 | chr16 | TogoVar | ||
ATXN1L_chr16_71840976_71862328 | 71850118 | A | G | synonymous_variant | LOW | HG01891.hp1 HG02109.hp1 HG02258.hp1 others(8): Show |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0012a0001c0003t0003g0023a0001c0003t0003g0038 | 11 | 418 | 0.0263 | 0 | c.378 others(3): Show |
p.Pro others(6): Show |
ATXN1L | ENSG00000224470.9 | transcript | ENST00000427980.7 | protein_coding | 3/3 | 686/7896 | 378/2070 | 126/689 | chr16 | TogoVar | ||
ATXN1L_chr16_71840976_71862328 | 71850598 | C | T | synonymous_variant | LOW | HG01891.hp2 | a0001 | a0001c0012 | a0001c0012t0015 | a0001c0012t0015g0024 | 1 | 418 | 0.0024 | 0 | c.858 others(3): Show |
p.Ala others(6): Show |
ATXN1L | ENSG00000224470.9 | transcript | ENST00000427980.7 | protein_coding | 3/3 | 1166/7896 | 858/2070 | 286/689 | chr16 | TogoVar | ||
ATXN1L_chr16_71840976_71862328 | 71851270 | C | T | synonymous_variant | LOW | HG03490.hp1 | a0002 | a0002c0011 | a0002c0011t0001 | a0002c0011t0001g0001 | 1 | 418 | 0.0024 | 0 | c.153 others(4): Show |
p.Val others(6): Show |
ATXN1L | ENSG00000224470.9 | transcript | ENST00000427980.7 | protein_coding | 3/3 | 1838/7896 | 1530/2070 | 510/689 | chr16 | TogoVar | ||
ATXN1L_chr16_71840976_71862328 | 71851654 | C | G | synonymous_variant | LOW | NA20300.hp2 | a0001 | a0001c0009 | a0001c0009t0007 | a0001c0009t0007g0008 | 1 | 418 | 0.0024 | 0 | c.191 others(4): Show |
p.Ser others(6): Show |
ATXN1L | ENSG00000224470.9 | transcript | ENST00000427980.7 | protein_coding | 3/3 | 2222/7896 | 1914/2070 | 638/689 | chr16 | TogoVar | ||
ATXN1_chr6_16294112_16766460 | 16306635 | G | A | synonymous_variant | LOW | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(21): Show |
a0001a0002a0004others(6): Show | a0001c0027a0002c0004a0004c0015others(7): Show | a0001c0027t0001a0002c0004t0001a0002c0004t0017others(8): Show | a0001c0027t0001g0024a0001c0027t0001g0107a0002c0004t0001g0046others(21): Show | 24 | 182 | 0.1319 | 0 | c.214 others(4): Show |
p.Asp others(6): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 8/8 | 3034/10557 | 2142/2448 | 714/815 | chr6 | TogoVar | ||
ATXN1_chr6_16294112_16766460 | 16306746 | T | C | synonymous_variant | LOW | HG02258.hp1 HG03209.hp1 HG03516.hp1 |
a0001a0018 | a0001c0028a0018c0054 | a0001c0028t0015a0018c0054t0001 | a0001c0028t0015g0017a0001c0028t0015g0125a0018c0054t0001g0115 | 3 | 182 | 0.0165 | 0 | c.203 others(4): Show |
p.Ser others(6): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 8/8 | 2923/10557 | 2031/2448 | 677/815 | chr6 | TogoVar | ||
ATXN1_chr6_16294112_16766460 | 16326481 | G | A | synonymous_variant | LOW | HG02630.hp1 | a0009 | a0009c0042 | a0009c0042t0011 | a0009c0042t0011g0047 | 1 | 182 | 0.0055 | 0 | c.183 others(4): Show |
p.Ile others(6): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 7/8 | 2722/10557 | 1830/2448 | 610/815 | chr6 | TogoVar | ||
ATXN1_chr6_16294112_16766460 | 16326559 | G | A | synonymous_variant | LOW | HG03834.hp1 | a0015 | a0015c0055 | a0015c0055t0004 | a0015c0055t0004g0067 | 1 | 182 | 0.0055 | 0 | c.175 others(4): Show |
p.Asn others(6): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 7/8 | 2644/10557 | 1752/2448 | 584/815 | chr6 | TogoVar | ||
ATXN1_chr6_16294112_16766460 | 16327099 | T | C | synonymous_variant | LOW | HG00140.hp2 HG00408.hp1 HG00423.hp1 others(75): Show |
a0001a0004a0005others(20): Show | a0001c0052a0004c0005a0004c0015others(29): Show | a0001c0052t0047a0004c0005t0002a0004c0005t0008others(48): Show | a0001c0052t0047g0060a0004c0005t0002g0072a0004c0005t0002g0075others(75): Show | 78 | 182 | 0.4286 | 0 | c.121 others(4): Show |
p.Glu others(6): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 7/8 | 2104/10557 | 1212/2448 | 404/815 | chr6 | TogoVar |