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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACTMAP_chr19_40735861_40755477 | 40755257 | CTTTT | C | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00597.hp2 HG00673.hp2 others(54): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0005a0001c0001t0028a0001c0001t0037others(7): Show | a0001c0001t0005g0120a0001c0001t0028g0112a0001c0001t0028g0121others(17): Show | 57 | 426 | 0.1338 | -4 | c.-54 others(15): Show |
ACTMAP | ENSG00000188493.15 | transcript | ENST00000378313.7 | protein_coding | 4781 | chr19 | TogoVar | ||||||
ACTN1_chr14_68869128_68984302 | 68869420 | CTTTT | C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(69): Show |
a0001a0002a0004 | a0001c0002a0001c0004a0001c0012others(3): Show | a0001c0002t0003a0001c0002t0004a0001c0004t0001others(5): Show | a0001c0002t0003g0129a0001c0002t0003g0130a0001c0002t0003g0131others(69): Show | 72 | 284 | 0.2535 | -4 | c.*54 others(15): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 4707 | chr14 | TogoVar | ||||||
ACTN1_chr14_68869128_68984302 | 68935387 | ATTTT | A | intron_variant | MODIFIER | HG01496.hp1 HG02145.hp1 HG02486.hp2 others(8): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001 | a0001c0001t0001g0143a0001c0001t0001g0152a0001c0001t0001g0198others(8): Show | 11 | 284 | 0.0387 | -4 | c.106 others(21): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | ||||||
ACTN1_chr14_68869128_68984302 | 68942613 | TAGAC | T | intron_variant | MODIFIER | HG01167.hp1 HG01934.hp2 HG01952.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0003a0001c0002t0004 | a0001c0001t0002g0100a0001c0002t0003g0144a0001c0002t0004g0097others(3): Show | 6 | 284 | 0.0211 | -4 | c.106 others(23): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | ||||||
ACTN1_chr14_68869128_68984302 | 68948220 | CACTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(143): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(11): Show | a0001c0001t0001g0140a0001c0001t0001g0141a0001c0001t0001g0143others(142): Show | 146 | 284 | 0.5141 | -4 | c.106 others(23): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | ||||||
ACTN1_chr14_68869128_68984302 | 68950294 | CAAAA | C | intron_variant | MODIFIER | HG01496.hp1 HG02145.hp1 HG02622.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0003a0001c0003t0001others(1): Show | a0001c0001t0001g0182a0001c0001t0001g0198a0001c0001t0001g0242others(6): Show | 9 | 284 | 0.0317 | -4 | c.106 others(23): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236689300 | GATAT | G | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG01071.hp1 others(30): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0205a0001c0001t0001g0211a0001c0001t0001g0219others(30): Show | 33 | 344 | 0.0959 | -4 | c.126 others(21): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTN2_chr1_236681499_236769631 | 236693177 | GCACA | G | intron_variant | MODIFIER | HG00639.hp2 HG01099.hp1 HG01106.hp1 others(32): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(12): Show | a0001c0001t0001g0114a0001c0001t0004g0074a0001c0001t0004g0075others(32): Show | 35 | 344 | 0.1017 | -4 | c.126 others(21): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTN2_chr1_236681499_236769631 | 236709220 | GTATA | G | intron_variant | MODIFIER | HG01255.hp2 HG01891.hp1 HG02630.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0008 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0205a0001c0001t0003g0021a0001c0001t0003g0026others(7): Show | 10 | 344 | 0.0291 | -4 | c.127 others(21): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTN2_chr1_236681499_236769631 | 236709253 | TATAC | T | intron_variant | MODIFIER | HG01081.hp2 HG01168.hp2 HG01169.hp2 |
a0001 | a0001c0001a0001c0015 | a0001c0001t0001a0001c0015t0016 | a0001c0001t0001g0103a0001c0015t0016g0113a0001c0015t0016g0115 | 3 | 344 | 0.0087 | -4 | c.127 others(21): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTN2_chr1_236681499_236769631 | 236716096 | CTTCT | C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00423.hp2 others(59): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0004others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(19): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(59): Show | 62 | 344 | 0.1802 | -4 | c.127 others(21): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTN2_chr1_236681499_236769631 | 236747517 | ACTGT | A | intron_variant | MODIFIER | HG02015.hp1 HG02080.hp2 HG02083.hp2 others(12): Show |
a0002 | a0002c0005a0002c0008a0002c0020 | a0002c0005t0004a0002c0008t0004a0002c0020t0002 | a0002c0005t0004g0008a0002c0005t0004g0009a0002c0005t0004g0035others(12): Show | 15 | 344 | 0.0436 | -4 | c.140 others(21): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTN2_chr1_236681499_236769631 | 236751438 | ATTGT | A | intron_variant | MODIFIER | HG01258.hp1 HG01516.hp2 HG04204.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0012a0001c0003t0020 | a0001c0001t0012g0019a0001c0001t0012g0109a0001c0003t0020g0122 | 3 | 344 | 0.0087 | -4 | c.165 others(19): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTN2_chr1_236681499_236769631 | 236768415 | GTTTT | G | downstream_gene_variant | MODIFIER | HG01109.hp2 HG01243.hp2 HG02015.hp1 others(34): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0001c0004others(8): Show | a0001c0001t0005a0001c0001t0009a0001c0001t0011others(11): Show | a0001c0001t0005g0055a0001c0001t0005g0080a0001c0001t0009g0073others(34): Show | 37 | 344 | 0.1076 | -4 | c.*57 others(15): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 3785 | chr1 | TogoVar | ||||||
ACTN3_chr11_66541903_66568334 | 66552880 | TCACA | T | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00609.hp1 others(97): Show |
a0001a0002a0005others(6): Show | a0001c0001a0002c0002a0005c0006others(6): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(7): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0007others(47): Show | 100 | 400 | 0.2500 | -4 | c.383 others(21): Show |
ACTN3 | ENSG00000248746.6 | transcript | ENST00000513398.2 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ACTN4_chr19_38642649_38736589 | 38649332 | TAAAG | T | intron_variant | MODIFIER | HG01109.hp1 HG02647.hp1 HG02896.hp1 others(2): Show |
a0001a0005 | a0001c0002a0001c0007a0005c0018 | a0001c0002t0040a0001c0007t0001a0005c0018t0001 | a0001c0002t0040g0203a0001c0007t0001g0200a0001c0007t0001g0202others(2): Show | 5 | 314 | 0.0159 | -4 | c.162 others(21): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ACTN4_chr19_38642649_38736589 | 38657634 | TTTTC | T | intron_variant | MODIFIER | HG01952.hp1 NA18986.hp1 NA18986.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0007 | a0001c0002t0001g0218a0001c0002t0007g0023a0001c0002t0007g0219others(1): Show | 4 | 314 | 0.0127 | -4 | c.162 others(21): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ACTN4_chr19_38642649_38736589 | 38670921 | TAAAA | T | intron_variant | MODIFIER | HG00438.hp1 HG01978.hp1 HG02015.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(1): Show | a0001c0001t0001g0086a0001c0001t0002g0002a0001c0001t0002g0093others(8): Show | 12 | 314 | 0.0382 | -4 | c.162 others(23): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ACTN4_chr19_38642649_38736589 | 38671777 | AGTCT | A | intron_variant | MODIFIER | HG01109.hp1 HG02647.hp1 HG02896.hp1 others(2): Show |
a0001a0005 | a0001c0002a0001c0007a0005c0018 | a0001c0002t0040a0001c0007t0001a0005c0018t0001 | a0001c0002t0040g0203a0001c0007t0001g0200a0001c0007t0001g0202others(2): Show | 5 | 314 | 0.0159 | -4 | c.162 others(23): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ACTN4_chr19_38642649_38736589 | 38673533 | ATACT | A | intron_variant | MODIFIER | HG01109.hp1 HG02647.hp1 HG02896.hp1 others(2): Show |
a0001a0005 | a0001c0002a0001c0007a0005c0018 | a0001c0002t0040a0001c0007t0001a0005c0018t0001 | a0001c0002t0040g0203a0001c0007t0001g0200a0001c0007t0001g0202others(2): Show | 5 | 314 | 0.0159 | -4 | c.162 others(23): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ACTN4_chr19_38642649_38736589 | 38677370 | AACAG | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00423.hp1 others(81): Show |
a0001a0004 | a0001c0002a0004c0019 | a0001c0002t0001a0001c0002t0005a0001c0002t0007others(6): Show | a0001c0002t0001g0005a0001c0002t0001g0006a0001c0002t0001g0008others(81): Show | 84 | 314 | 0.2675 | -4 | c.163 others(23): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ACTN4_chr19_38642649_38736589 | 38688390 | CAAAA | C | intron_variant | MODIFIER | HG00280.hp2 HG00733.hp1 HG00738.hp1 others(18): Show |
a0001 | a0001c0004a0001c0006 | a0001c0004t0005a0001c0004t0013a0001c0004t0048others(3): Show | a0001c0004t0005g0095a0001c0004t0005g0222a0001c0004t0005g0224others(18): Show | 21 | 314 | 0.0669 | -4 | c.163 others(23): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ACTN4_chr19_38642649_38736589 | 38695503 | GGGGA | G | intron_variant | MODIFIER | HG01884.hp1 HG02280.hp2 HG02818.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0025a0001c0001t0026 | a0001c0001t0017g0284a0001c0001t0017g0288a0001c0001t0025g0286others(1): Show | 4 | 314 | 0.0127 | -4 | c.163 others(21): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ACTN4_chr19_38642649_38736589 | 38704662 | AGGAG | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00423.hp1 others(87): Show |
a0001a0004 | a0001c0002a0001c0020a0004c0019 | a0001c0002t0001a0001c0002t0005a0001c0002t0007others(9): Show | a0001c0002t0001g0005a0001c0002t0001g0006a0001c0002t0001g0008others(87): Show | 90 | 314 | 0.2866 | -4 | c.398 others(19): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 3/20 | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38725084 | ATTAC | A | intron_variant | MODIFIER | HG00280.hp2 HG00733.hp1 HG00738.hp1 others(21): Show |
a0001 | a0001c0004a0001c0006 | a0001c0004t0005a0001c0004t0013a0001c0004t0048others(3): Show | a0001c0004t0005g0095a0001c0004t0005g0222a0001c0004t0005g0224others(21): Show | 24 | 314 | 0.0764 | -4 | c.201 others(21): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ACTN4_chr19_38642649_38736589 | 38730168 | AAAAG | A | 3_prime_UTR_variant | MODIFIER | HG02293.hp1 HG02622.hp1 HG02723.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0023a0001c0006t0047 | a0001c0001t0023g0309a0001c0001t0023g0310a0001c0006t0047g0239 | 3 | 314 | 0.0096 | -4 | c.*74 others(13): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 21/21 | 743 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
ACTN4_chr19_38642649_38736589 | 38735831 | GGTTC | G | downstream_gene_variant | MODIFIER | HG00639.hp2 HG01106.hp1 HG01109.hp2 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0003a0001c0003t0009a0001c0003t0051 | a0001c0003t0003g0088a0001c0003t0003g0179a0001c0003t0003g0180others(3): Show | 6 | 314 | 0.0191 | -4 | c.*64 others(15): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4243 | chr19 | TogoVar | ||||||
ACTR10_chr14_58195149_58240636 | 58227166 | CTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(210): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0004a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(21): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(182): Show | 213 | 322 | 0.6615 | -4 | c.789 others(21): Show |
ACTR10 | ENSG00000131966.14 | transcript | ENST00000254286.9 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ACTR10_chr14_58195149_58240636 | 58228681 | CTTTT | C | intron_variant | MODIFIER | HG01928.hp2 HG01978.hp1 HG02056.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(1): Show | a0001c0001t0001g0091a0001c0001t0003g0150a0001c0001t0003g0151others(12): Show | 16 | 322 | 0.0497 | -4 | c.789 others(21): Show |
ACTR10 | ENSG00000131966.14 | transcript | ENST00000254286.9 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ACTR1A_chr10_102474229_102507712 | 102500568 | AAAAC | A | intron_variant | MODIFIER | HG01109.hp1 HG01109.hp2 HG01891.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0022a0001c0001t0004g0023a0001c0001t0004g0024others(10): Show | 16 | 388 | 0.0412 | -4 | c.48+ others(19): Show |
ACTR1A | ENSG00000138107.13 | transcript | ENST00000369905.9 | protein_coding | 1/10 | chr10 | TogoVar | ||||||
ACTR1B_chr2_97650939_97669044 | 97665692 | ACTCT | A | upstream_gene_variant | MODIFIER | HG00423.hp2 HG00558.hp1 HG00609.hp1 others(13): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0004a0002c0003t0003 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0028others(5): Show | 16 | 398 | 0.0402 | -4 | c.-18 others(15): Show |
ACTR1B | ENSG00000115073.8 | transcript | ENST00000289228.7 | protein_coding | 1649 | chr2 | TogoVar | ||||||
ACTR1B_chr2_97650939_97669044 | 97665735 | CTCTA | C | upstream_gene_variant | MODIFIER | HG01943.hp2 HG03098.hp1 HG03927.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0004 | 5 | 398 | 0.0126 | -4 | c.-18 others(15): Show |
ACTR1B | ENSG00000115073.8 | transcript | ENST00000289228.7 | protein_coding | 1692 | chr2 | TogoVar | ||||||
ACTR1B_chr2_97650939_97669044 | 97665737 | CTATA | C | upstream_gene_variant | MODIFIER | HG01123.hp1 HG01169.hp2 HG02071.hp2 others(20): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0002t0004a0001c0005t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0019others(6): Show | 23 | 398 | 0.0578 | -4 | c.-18 others(15): Show |
ACTR1B | ENSG00000115073.8 | transcript | ENST00000289228.7 | protein_coding | 1694 | chr2 | TogoVar | ||||||
ACTR2_chr2_65222831_65276253 | 65222964 | TTTTC | T | upstream_gene_variant | MODIFIER | HG02280.hp2 HG02922.hp1 HG02965.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0012 | a0001c0001t0002g0219a0001c0001t0012g0033a0001c0001t0012g0034 | 5 | 326 | 0.0153 | -4 | c.-49 others(15): Show |
ACTR2 | ENSG00000138071.15 | transcript | ENST00000260641.10 | protein_coding | 4866 | chr2 | TogoVar | ||||||
ACTR2_chr2_65222831_65276253 | 65224162 | TTTTG | T | upstream_gene_variant | MODIFIER | HG02559.hp2 HG02896.hp1 HG02897.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0028a0001c0001t0009g0207a0001c0001t0009g0209 | 4 | 326 | 0.0123 | -4 | c.-37 others(15): Show |
ACTR2 | ENSG00000138071.15 | transcript | ENST00000260641.10 | protein_coding | 3668 | chr2 | TogoVar | ||||||
ACTR2_chr2_65222831_65276253 | 65260510 | ATCAG | A | intron_variant | MODIFIER | HG02630.hp1 HG02717.hp1 HG02886.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0039a0001c0001t0002g0254a0001c0001t0002g0255others(1): Show | 5 | 326 | 0.0153 | -4 | c.736 others(19): Show |
ACTR2 | ENSG00000138071.15 | transcript | ENST00000260641.10 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACTR2_chr2_65222831_65276253 | 65263325 | ACTCT | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(116): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(6): Show | a0001c0001t0002g0010a0001c0001t0002g0011a0001c0001t0002g0012others(93): Show | 119 | 326 | 0.3650 | -4 | c.882 others(21): Show |
ACTR2 | ENSG00000138071.15 | transcript | ENST00000260641.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACTR2_chr2_65222831_65276253 | 65267862 | CTTTT | C | intron_variant | MODIFIER | HG02486.hp1 HG02559.hp1 HG02615.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010a0001c0001t0013 | a0001c0001t0002g0038a0001c0001t0002g0245a0001c0001t0002g0246others(5): Show | 11 | 326 | 0.0337 | -4 | c.101 others(21): Show |
ACTR2 | ENSG00000138071.15 | transcript | ENST00000260641.10 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACTR3B_chr7_152754752_152860378 | 152759465 | TAGTC | T | upstream_gene_variant | MODIFIER | HG01952.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0298a0001c0001t0001g0299a0001c0001t0001g0300others(3): Show | 6 | 310 | 0.0194 | -4 | c.-41 others(13): Show |
ACTR3B | ENSG00000133627.18 | transcript | ENST00000256001.13 | protein_coding | 286 | chr7 | TogoVar | ||||||
ACTR3B_chr7_152754752_152860378 | 152772963 | ATATG | A | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00558.hp2 others(94): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0010others(1): Show | a0001c0001t0001g0003a0001c0001t0001g0201a0001c0001t0001g0202others(93): Show | 97 | 310 | 0.3129 | -4 | c.45- others(21): Show |
ACTR3B | ENSG00000133627.18 | transcript | ENST00000256001.13 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ACTR3B_chr7_152754752_152860378 | 152778943 | CAAAA | C | intron_variant | MODIFIER | HG01099.hp1 HG01255.hp1 HG01256.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0011 | a0001c0001t0001g0001a0001c0001t0001g0111a0001c0001t0001g0115others(8): Show | 12 | 310 | 0.0387 | -4 | c.45- others(19): Show |
ACTR3B | ENSG00000133627.18 | transcript | ENST00000256001.13 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ACTR3B_chr7_152754752_152860378 | 152785406 | AGAGG | A | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00558.hp2 others(39): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0201a0001c0001t0001g0202a0001c0001t0001g0203others(39): Show | 42 | 310 | 0.1355 | -4 | c.100 others(21): Show |
ACTR3B | ENSG00000133627.18 | transcript | ENST00000256001.13 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ACTR3B_chr7_152754752_152860378 | 152796860 | GTTTT | G | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00544.hp1 others(100): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(2): Show | a0001c0001t0001g0181a0001c0001t0001g0182a0001c0001t0001g0200others(100): Show | 103 | 310 | 0.3323 | -4 | c.101 others(21): Show |
ACTR3B | ENSG00000133627.18 | transcript | ENST00000256001.13 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ACTR3B_chr7_152754752_152860378 | 152805937 | GGGTT | G | intron_variant | MODIFIER | HG01952.hp1 HG02145.hp1 HG02615.hp1 others(10): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0005t0001 | a0001c0001t0001g0181a0001c0001t0001g0182a0001c0001t0001g0298others(10): Show | 13 | 310 | 0.0419 | -4 | c.336 others(21): Show |
ACTR3B | ENSG00000133627.18 | transcript | ENST00000256001.13 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ACTR3C_chr7_150242212_150328545 | 150255242 | ATTTT | A | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00438.hp1 others(28): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(4): Show | a0001c0001t0001g0170a0001c0001t0001g0214a0001c0001t0001g0228others(27): Show | 31 | 294 | 0.1054 | -4 | c.565 others(21): Show |
ACTR3C | ENSG00000106526.12 | transcript | ENST00000683684.1 | protein_coding | 6/7 | chr7 | TogoVar | ||||||
ACTR3C_chr7_150242212_150328545 | 150259326 | GGAAA | G | intron_variant | MODIFIER | HG02280.hp1 HG02630.hp2 HG03453.hp1 others(1): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0005 | a0001c0001t0001a0002c0002t0001a0006c0005t0001 | a0001c0001t0001g0264a0001c0001t0001g0275a0002c0002t0001g0121others(1): Show | 4 | 294 | 0.0136 | -4 | c.565 others(23): Show |
ACTR3C | ENSG00000106526.12 | transcript | ENST00000683684.1 | protein_coding | 6/7 | chr7 | TogoVar | ||||||
ACTR3C_chr7_150242212_150328545 | 150272690 | GTTTT | G | intron_variant | MODIFIER | HG02258.hp2 HG02572.hp2 HG02717.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0006 | a0002c0002t0001g0011a0002c0002t0001g0012a0002c0002t0001g0013others(4): Show | 7 | 294 | 0.0238 | -4 | c.564 others(23): Show |
ACTR3C | ENSG00000106526.12 | transcript | ENST00000683684.1 | protein_coding | 6/7 | chr7 | TogoVar | ||||||
ACTR3C_chr7_150242212_150328545 | 150280798 | ATGTG | A | intron_variant | MODIFIER | HG00140.hp2 HG02258.hp2 HG02572.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0083a0002c0002t0001g0009a0002c0002t0001g0010others(4): Show | 7 | 294 | 0.0238 | -4 | c.564 others(21): Show |
ACTR3C | ENSG00000106526.12 | transcript | ENST00000683684.1 | protein_coding | 6/7 | chr7 | TogoVar | ||||||
ACTR3C_chr7_150242212_150328545 | 150288414 | TTTTC | T | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp1 others(85): Show |
a0002a0003a0005 | a0002c0002a0002c0008a0003c0003others(1): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0004others(5): Show | a0002c0002t0001g0001a0002c0002t0001g0008a0002c0002t0001g0015others(81): Show | 88 | 294 | 0.2993 | -4 | c.297 others(21): Show |
ACTR3C | ENSG00000106526.12 | transcript | ENST00000683684.1 | protein_coding | 4/7 | chr7 | TogoVar | ||||||
ACTR3C_chr7_150242212_150328545 | 150298974 | CTTTT | C | intron_variant | MODIFIER | HG00735.hp1 HG01891.hp1 HG02055.hp1 others(9): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0006c0005others(1): Show | a0001c0001t0001a0002c0002t0001a0006c0005t0001others(2): Show | a0001c0001t0001g0006a0001c0001t0001g0120a0002c0002t0001g0001others(6): Show | 12 | 294 | 0.0408 | -4 | c.-51 others(21): Show |
ACTR3C | ENSG00000106526.12 | transcript | ENST00000683684.1 | protein_coding | 1/7 | chr7 | TogoVar |