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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AVL9_chr7_32490489_32593726 | 32492202 | CATT | C | upstream_gene_variant | MODIFIER | HG02258.hp2 HG02451.hp2 HG02723.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0058a0001c0001t0135a0001c0001t0136others(2): Show | a0001c0001t0058g0298 a0001c0001t0058g0300 a0001c0001t0135g0297 others(3): Show |
6 | 330 | 0.0182 | -3 | c.-35 others(14): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 3286 | chr7 | TogoVar | |||||||
AVL9_chr7_32490489_32593726 | 32498237 | ATTT | A | intron_variant | MODIFIER | HG01081.hp1 HG02015.hp2 HG02886.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0008others(1): Show | a0001c0001t0110a0001c0001t0114a0001c0004t0091others(5): Show | a0001c0001t0110g0315 a0001c0001t0114g0238 a0001c0004t0091g0114 others(5): Show |
8 | 330 | 0.0242 | -3 | c.93+ others(18): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVL9_chr7_32490489_32593726 | 32523508 | CTTT | C | intron_variant | MODIFIER | HG00735.hp2 HG01081.hp2 HG01123.hp2 others(31): Show |
a0001 | a0001c0002 | a0001c0002t0005a0001c0002t0006a0001c0002t0011others(12): Show | a0001c0002t0005g0062 a0001c0002t0005g0064 a0001c0002t0005g0065 others(31): Show |
34 | 330 | 0.1030 | -3 | c.94- others(20): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVL9_chr7_32490489_32593726 | 32549206 | AAAT | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(164): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(71): Show | a0001c0001t0001g0012 a0001c0001t0001g0048 a0001c0001t0001g0176 others(164): Show |
167 | 330 | 0.5061 | -3 | c.372 others(18): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 4/15 | chr7 | TogoVar | |||||||
AVL9_chr7_32490489_32593726 | 32549212 | TATA | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(185): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(82): Show | a0001c0001t0001g0012 a0001c0001t0001g0048 a0001c0001t0001g0176 others(185): Show |
188 | 330 | 0.5697 | -3 | c.372 others(18): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 4/15 | chr7 | TogoVar | |||||||
AVL9_chr7_32490489_32593726 | 32560264 | AAAC | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(239): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(111): Show | a0001c0001t0001g0012 a0001c0001t0001g0048 a0001c0001t0001g0176 others(239): Show |
242 | 330 | 0.7333 | -3 | c.121 others(20): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVL9_chr7_32490489_32593726 | 32561460 | TCTC | T | intron_variant | MODIFIER | HG02055.hp2 HG02717.hp2 HG02895.hp1 others(5): Show |
a0001 | a0001c0008a0001c0009 | a0001c0008t0117a0001c0008t0118a0001c0008t0119others(4): Show | a0001c0008t0117g0052 a0001c0008t0118g0053 a0001c0008t0119g0311 others(5): Show |
8 | 330 | 0.0242 | -3 | c.121 others(22): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 10/15 | chr7 | TogoVar | |||||||
AVL9_chr7_32490489_32593726 | 32572433 | TTTA | T | intron_variant | MODIFIER | HG01106.hp2 HG01192.hp1 HG01258.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0024a0001c0001t0028a0001c0001t0036 | a0001c0001t0024g0284 a0001c0001t0024g0287 a0001c0001t0024g0288 others(3): Show |
6 | 330 | 0.0182 | -3 | c.135 others(20): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVL9_chr7_32490489_32593726 | 32579386 | ATAT | A | intron_variant | MODIFIER | HG01243.hp1 HG01255.hp1 HG01884.hp2 others(7): Show |
a0002 | a0002c0005a0002c0014 | a0002c0005t0023a0002c0005t0062a0002c0005t0063others(5): Show | a0002c0005t0023g0143 a0002c0005t0023g0317 a0002c0005t0023g0321 others(7): Show |
10 | 330 | 0.0303 | -3 | c.168 others(20): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVL9_chr7_32490489_32593726 | 32579408 | TATA | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(192): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(93): Show | a0001c0001t0001g0012 a0001c0001t0001g0048 a0001c0001t0001g0176 others(192): Show |
195 | 330 | 0.5909 | -3 | c.168 others(20): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVL9_chr7_32490489_32593726 | 32579448 | ATAT | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(158): Show |
a0001a0003 | a0001c0001a0001c0006a0001c0012others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(69): Show | a0001c0001t0001g0012 a0001c0001t0001g0048 a0001c0001t0001g0176 others(158): Show |
161 | 330 | 0.4879 | -3 | c.168 others(20): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVL9_chr7_32490489_32593726 | 32579482 | TATA | T | intron_variant | MODIFIER | HG02055.hp2 HG03225.hp1 NA18968.hp1 |
a0001 | a0001c0002a0001c0009 | a0001c0002t0005a0001c0009t0037a0001c0009t0068 | a0001c0002t0005g0142 a0001c0009t0037g0313 a0001c0009t0068g0314 |
3 | 330 | 0.0091 | -3 | c.168 others(20): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVL9_chr7_32490489_32593726 | 32579491 | TTAC | T | intron_variant | MODIFIER | HG01192.hp1 HG01258.hp2 HG02886.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0036a0001c0001t0110a0001c0001t0111 | a0001c0001t0036g0285 a0001c0001t0036g0286 a0001c0001t0110g0315 others(1): Show |
4 | 330 | 0.0121 | -3 | c.168 others(20): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 13/15 | chr7 | TogoVar | |||||||
AVL9_chr7_32490489_32593726 | 32579514 | ATAT | A | intron_variant | MODIFIER | HG02055.hp2 HG02257.hp2 HG02886.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0009a0002c0003 | a0001c0001t0110a0001c0001t0111a0001c0009t0037others(4): Show | a0001c0001t0110g0315 a0001c0001t0111g0316 a0001c0009t0037g0313 others(7): Show |
10 | 330 | 0.0303 | -3 | c.168 others(20): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVL9_chr7_32490489_32593726 | 32579528 | ATAT | A | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00544.hp1 others(71): Show |
a0001a0003 | a0001c0001a0001c0012a0003c0010 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(33): Show | a0001c0001t0001g0012 a0001c0001t0001g0048 a0001c0001t0001g0176 others(71): Show |
74 | 330 | 0.2242 | -3 | c.168 others(20): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVL9_chr7_32490489_32593726 | 32579540 | ATAT | A | intron_variant | MODIFIER | HG02055.hp1 HG04115.hp2 NA18959.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0048a0001c0001t0052a0001c0001t0054others(1): Show | a0001c0001t0048g0022 a0001c0001t0048g0224 a0001c0001t0052g0225 others(2): Show |
5 | 330 | 0.0152 | -3 | c.168 others(20): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVL9_chr7_32490489_32593726 | 32579554 | ATAT | A | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00544.hp1 others(100): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0007a0001c0012others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(48): Show | a0001c0001t0001g0012 a0001c0001t0001g0048 a0001c0001t0001g0176 others(100): Show |
103 | 330 | 0.3121 | -3 | c.168 others(20): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVL9_chr7_32490489_32593726 | 32579571 | ATAT | A | intron_variant | MODIFIER | HG01123.hp2 HG02717.hp2 HG03540.hp2 others(2): Show |
a0001 | a0001c0002a0001c0008 | a0001c0002t0005a0001c0002t0025a0001c0008t0117others(2): Show | a0001c0002t0005g0065 a0001c0002t0025g0074 a0001c0008t0117g0052 others(2): Show |
5 | 330 | 0.0152 | -3 | c.168 others(20): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVL9_chr7_32490489_32593726 | 32579585 | ATAT | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(158): Show |
a0001a0003 | a0001c0001a0001c0006a0001c0012others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(69): Show | a0001c0001t0001g0012 a0001c0001t0001g0048 a0001c0001t0001g0176 others(158): Show |
161 | 330 | 0.4879 | -3 | c.168 others(20): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVL9_chr7_32490489_32593726 | 32584764 | CTTT | C | 3_prime_UTR_variant | MODIFIER | HG00738.hp1 HG01074.hp2 HG01099.hp1 others(33): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0004a0002c0003others(4): Show | a0001c0001t0024a0001c0004t0031a0001c0004t0040others(12): Show | a0001c0001t0024g0284 a0001c0001t0024g0287 a0001c0001t0024g0288 others(33): Show |
36 | 330 | 0.1091 | -3 | c.*86 others(12): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 16/16 | 866 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AVL9_chr7_32490489_32593726 | 32584773 | TTTG | T | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00621.hp1 others(78): Show |
a0001a0003 | a0001c0001a0001c0006a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(26): Show | a0001c0001t0001g0012 a0001c0001t0001g0048 a0001c0001t0001g0176 others(78): Show |
81 | 330 | 0.2455 | -3 | c.*86 others(12): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 16/16 | 867 | chr7 | TogoVar | ||||||
AVL9_chr7_32490489_32593726 | 32587539 | AAGT | A | 3_prime_UTR_variant | MODIFIER | NA18954.hp2 NA18968.hp2 NA18971.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0050a0001c0001t0055 | a0001c0001t0050g0046 a0001c0001t0050g0047 a0001c0001t0055g0044 others(1): Show |
4 | 330 | 0.0121 | -3 | c.*36 others(14): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 16/16 | 3635 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AVPR1A_chr12_63137759_63156201 | 63149772 | TCTC | T | intron_variant | MODIFIER | HG01433.hp2 HG03209.hp1 HG04228.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0022 | a0001c0001t0004g0035 a0001c0001t0004g0134 a0001c0001t0004g0141 others(2): Show |
9 | 448 | 0.0201 | -3 | c.970 others(16): Show |
AVPR1A | ENSG00000166148.4 | transcript | ENST00000299178.4 | protein_coding | 1/1 | chr12 | TogoVar | |||||||
AVPR1B_chr1_206101936_206122388 | 206118840 | CTTT | C | upstream_gene_variant | MODIFIER | HG00544.hp1 HG00673.hp2 HG01070.hp2 others(46): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0001a0001c0004t0026a0002c0002t0003others(15): Show | a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0004t0026g0042 others(21): Show |
49 | 396 | 0.1237 | -3 | c.-19 others(14): Show |
AVPR1B | ENSG00000198049.7 | transcript | ENST00000367126.5 | protein_coding | 1453 | chr1 | TogoVar | |||||||
AVPR2_chrX_153899673_153912166 | 153901502 | ACCC | A | upstream_gene_variant | MODIFIER | HG02647.hp1 HG02818.hp2 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 322 | 0.0093 | -3 | c.-34 others(14): Show |
AVPR2 | ENSG00000126895.16 | transcript | ENST00000646375.2 | protein_coding | 3170 | chrX | TogoVar | |||||||
AWAT2_chrX_70035542_70054938 | 70043004 | CTCT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(285): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(57): Show |
288 | 338 | 0.8521 | -3 | c.647 others(16): Show |
AWAT2 | ENSG00000147160.9 | transcript | ENST00000276101.7 | protein_coding | 5/7 | chrX | TogoVar | |||||||
AWAT2_chrX_70035542_70054938 | 70044946 | CAAA | C | intron_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 338 | 0.0030 | -3 | c.86- others(16): Show |
AWAT2 | ENSG00000147160.9 | transcript | ENST00000276101.7 | protein_coding | 1/7 | chrX | TogoVar | |||||||
AWAT2_chrX_70035542_70054938 | 70054616 | GATT | G | upstream_gene_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 338 | 0.0030 | -3 | c.-46 others(14): Show |
AWAT2 | ENSG00000147160.9 | transcript | ENST00000276101.7 | protein_coding | 4679 | chrX | TogoVar | |||||||
AXDND1_chr1_179360971_179559735 | 179366794 | ACTC | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(149): Show |
a0001a0002a0003others(10): Show | a0001c0002a0001c0003a0001c0006others(15): Show | a0001c0002t0001a0001c0003t0001a0001c0006t0001others(15): Show | a0001c0002t0001g0206 a0001c0002t0001g0212 a0001c0002t0001g0227 others(149): Show |
152 | 356 | 0.4270 | -3 | c.97+ others(16): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 2/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179375501 | TATA | T | intron_variant | MODIFIER | HG02015.hp1 NA18951.hp1 NA19064.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0285 a0001c0003t0001g0286 a0001c0003t0001g0287 |
3 | 356 | 0.0084 | -3 | c.375 others(20): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 4/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179379796 | CAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(205): Show |
a0001a0002a0003others(13): Show | a0001c0002a0001c0003a0001c0006others(21): Show | a0001c0002t0001a0001c0003t0001a0001c0006t0001others(21): Show | a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 others(205): Show |
208 | 356 | 0.5843 | -3 | c.581 others(18): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 6/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179406176 | CTTG | C | intron_variant | MODIFIER | HG00280.hp2 HG00609.hp1 HG00733.hp2 others(67): Show |
a0003a0006a0007others(7): Show | a0003c0004a0006c0009a0007c0010others(7): Show | a0003c0004t0001a0006c0009t0001a0007c0010t0001others(7): Show | a0003c0004t0001g0003 a0003c0004t0001g0005 a0003c0004t0001g0008 others(67): Show |
70 | 356 | 0.1966 | -3 | c.111 others(22): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 11/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179423698 | AAAG | A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(84): Show |
a0001a0002a0011others(2): Show | a0001c0002a0001c0006a0001c0011others(6): Show | a0001c0002t0001a0001c0006t0001a0001c0011t0001others(6): Show | a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 others(84): Show |
87 | 356 | 0.2444 | -3 | c.123 others(22): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 12/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179427953 | TAAA | T | intron_variant | MODIFIER | HG02145.hp2 HG02809.hp2 HG02818.hp2 others(5): Show |
a0003a0006 | a0003c0004a0006c0009 | a0003c0004t0001a0006c0009t0001 | a0003c0004t0001g0017 a0006c0009t0001g0176 a0006c0009t0001g0191 others(5): Show |
8 | 356 | 0.0225 | -3 | c.123 others(22): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 12/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179444053 | ATTT | A | intron_variant | MODIFIER | HG00280.hp2 HG00609.hp1 HG00733.hp2 others(80): Show |
a0001a0002a0003others(11): Show | a0001c0007a0002c0023a0003c0004others(11): Show | a0001c0007t0001a0002c0023t0001a0003c0004t0001others(11): Show | a0001c0007t0001g0080 a0001c0007t0001g0175 a0001c0007t0001g0183 others(80): Show |
83 | 356 | 0.2332 | -3 | c.156 others(20): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 15/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179449988 | ATTT | A | intron_variant | MODIFIER | HG01109.hp1 HG02015.hp1 HG02451.hp1 others(5): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0052 a0001c0003t0001g0060 a0001c0003t0001g0265 others(5): Show |
8 | 356 | 0.0225 | -3 | c.179 others(22): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 16/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179453800 | CAAA | C | intron_variant | MODIFIER | HG01167.hp2 HG01943.hp1 HG02004.hp1 others(6): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001others(1): Show | a0001c0002t0001a0001c0003t0001a0002c0001t0001others(1): Show | a0001c0002t0001g0236 a0001c0003t0001g0280 a0002c0001t0001g0004 others(6): Show |
9 | 356 | 0.0253 | -3 | c.179 others(22): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 16/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179455593 | CAAA | C | intron_variant | MODIFIER | HG01884.hp1 HG02004.hp1 HG02258.hp2 others(15): Show |
a0001a0017a0021 | a0001c0002a0001c0007a0017c0031others(1): Show | a0001c0002t0001a0001c0007t0001a0017c0031t0001others(1): Show | a0001c0002t0001g0206 a0001c0002t0001g0227 a0001c0002t0001g0235 others(15): Show |
18 | 356 | 0.0506 | -3 | c.179 others(24): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 16/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179466270 | TTTC | T | intron_variant | MODIFIER | HG00280.hp2 HG00609.hp1 HG00733.hp2 others(42): Show |
a0001a0003a0007others(3): Show | a0001c0006a0003c0004a0007c0010others(3): Show | a0001c0006t0001a0003c0004t0001a0007c0010t0001others(3): Show | a0001c0006t0001g0247 a0003c0004t0001g0003 a0003c0004t0001g0005 others(42): Show |
45 | 356 | 0.1264 | -3 | c.179 others(22): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 16/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179470696 | TTTC | T | intron_variant | MODIFIER | HG02145.hp2 HG02809.hp2 HG02818.hp2 others(6): Show |
a0006a0010a0027 | a0006c0009a0010c0016a0027c0037 | a0006c0009t0001a0010c0016t0001a0027c0037t0001 | a0006c0009t0001g0176 a0006c0009t0001g0191 a0006c0009t0001g0192 others(6): Show |
9 | 356 | 0.0253 | -3 | c.199 others(22): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 17/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179482098 | ATTT | A | intron_variant | MODIFIER | HG02109.hp1 HG02622.hp1 HG02630.hp2 others(3): Show |
a0001 | a0001c0003a0001c0015 | a0001c0003t0001a0001c0015t0001 | a0001c0003t0001g0277 a0001c0003t0001g0295 a0001c0003t0001g0297 others(3): Show |
6 | 356 | 0.0169 | -3 | c.199 others(22): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 17/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179488634 | CCTT | C | intron_variant | MODIFIER | HG00609.hp2 HG01993.hp2 HG02040.hp1 others(15): Show |
a0001a0002a0018others(1): Show | a0001c0002a0001c0011a0002c0001others(4): Show | a0001c0002t0001a0001c0011t0001a0002c0001t0001others(4): Show | a0001c0002t0001g0155 a0001c0011t0001g0119 a0002c0001t0001g0219 others(15): Show |
18 | 356 | 0.0506 | -3 | c.209 others(22): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 18/25 | chr1 | TogoVar | |||||||
AXDND1_chr1_179360971_179559735 | 179489741 | CTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(97): Show |
a0001a0002a0003others(9): Show | a0001c0003a0001c0006a0001c0015others(12): Show | a0001c0003t0001a0001c0006t0001a0001c0015t0001others(12): Show | a0001c0003t0001g0210 a0001c0003t0001g0211 a0001c0003t0001g0213 others(97): Show |
100 | 356 | 0.2809 | -3 | c.209 others(22): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 18/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179492447 | AAAC | A | intron_variant | MODIFIER | HG00735.hp1 HG00741.hp1 HG01109.hp2 others(9): Show |
a0001a0008 | a0001c0002a0008c0012 | a0001c0002t0001a0008c0012t0001 | a0001c0002t0001g0206 a0001c0002t0001g0227 a0001c0002t0001g0235 others(9): Show |
12 | 356 | 0.0337 | -3 | c.229 others(20): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 19/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179502562 | TAAA | T | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00544.hp2 others(35): Show |
a0001a0014 | a0001c0002a0001c0003a0001c0006others(3): Show | a0001c0002t0001a0001c0003t0001a0001c0006t0001others(3): Show | a0001c0002t0001g0227 a0001c0003t0001g0049 a0001c0003t0001g0062 others(35): Show |
38 | 356 | 0.1067 | -3 | c.238 others(22): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 20/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179521758 | ATTT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(128): Show |
a0001a0002a0004others(7): Show | a0001c0002a0001c0003a0001c0006others(12): Show | a0001c0002t0001a0001c0003t0001a0001c0006t0001others(12): Show | a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 others(128): Show |
131 | 356 | 0.3680 | -3 | c.249 others(22): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 21/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179534890 | AAAG | A | conservative_inframe_deletion | MODERATE | HG00099.hp2 HG00408.hp2 HG00423.hp2 others(106): Show |
a0002a0004a0005others(7): Show | a0002c0001a0002c0019a0002c0020others(11): Show | a0002c0001t0001a0002c0019t0001a0002c0020t0001others(11): Show | a0002c0001t0001g0004 a0002c0001t0001g0105 a0002c0001t0001g0134 others(106): Show |
109 | 356 | 0.3062 | -3 | c.297 others(12): Show |
p.Glu others(6): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 25/26 | 3107/3391 | 2971/3039 | 991/1012 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
AXDND1_chr1_179360971_179559735 | 179541672 | CATA | C | intron_variant | MODIFIER | NA18939.hp1 NA18951.hp2 NA18952.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0109 others(2): Show |
5 | 356 | 0.0140 | -3 | c.303 others(22): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 25/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179541725 | CATA | C | intron_variant | MODIFIER | HG00280.hp2 HG00609.hp1 HG00733.hp2 others(48): Show |
a0001a0003a0007others(4): Show | a0001c0006a0003c0004a0007c0010others(4): Show | a0001c0006t0001a0003c0004t0001a0007c0010t0001others(4): Show | a0001c0006t0001g0247 a0001c0006t0001g0258 a0003c0004t0001g0003 others(48): Show |
51 | 356 | 0.1433 | -3 | c.303 others(22): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 25/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179546495 | ACTT | A | intron_variant | MODIFIER | HG02004.hp1 HG02258.hp2 HG02280.hp2 others(14): Show |
a0001a0021 | a0001c0002a0001c0007a0021c0024 | a0001c0002t0001a0001c0007t0001a0021c0024t0001 | a0001c0002t0001g0206 a0001c0002t0001g0227 a0001c0002t0001g0235 others(14): Show |
17 | 356 | 0.0478 | -3 | c.303 others(22): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 25/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |