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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SEZ6L_chr22_26164462_26388596 | 26194902 | ATTATC | A | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 |
a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0233 a0002c0002t0010g0234 |
2 | 240 | 0.0083 | -5 | c.94+ others(22): Show |
SEZ6L | ENSG00000100095.19 | transcript | ENST00000248933.11 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SEZ6L_chr22_26164462_26388596 | 26251338 | GTTTTT | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(85): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0007others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(40): Show | a0001c0001t0001g0013 a0001c0001t0001g0046 a0001c0001t0001g0076 others(85): Show |
88 | 240 | 0.3667 | -5 | c.95- others(22): Show |
SEZ6L | ENSG00000100095.19 | transcript | ENST00000248933.11 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SEZ6L_chr22_26164462_26388596 | 26318056 | CATTTT | C | intron_variant | MODIFIER | HG00639.hp1 HG00733.hp1 HG00733.hp2 others(43): Show |
a0001a0002a0003others(3): Show | a0001c0003a0001c0006a0001c0007others(9): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0003others(25): Show | a0001c0003t0001g0028 a0001c0003t0001g0030 a0001c0003t0001g0072 others(43): Show |
46 | 240 | 0.1917 | -5 | c.201 others(24): Show |
SEZ6L | ENSG00000100095.19 | transcript | ENST00000248933.11 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SEZ6L_chr22_26164462_26388596 | 26319360 | TCATAG | T | intron_variant | MODIFIER | HG02083.hp2 NA18950.hp2 NA18973.hp1 others(3): Show |
a0002 | a0002c0005 | a0002c0005t0003a0002c0005t0005a0002c0005t0006others(1): Show | a0002c0005t0003g0058 a0002c0005t0003g0138 a0002c0005t0005g0205 others(3): Show |
6 | 240 | 0.0250 | -5 | c.201 others(24): Show |
SEZ6L | ENSG00000100095.19 | transcript | ENST00000248933.11 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SEZ6L_chr22_26164462_26388596 | 26332147 | GTTTTT | G | intron_variant | MODIFIER | HG01099.hp1 HG01167.hp2 HG01169.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0006others(2): Show | a0001c0001t0007a0001c0003t0007a0001c0006t0009others(2): Show | a0001c0001t0007g0025 a0001c0001t0007g0026 a0001c0001t0007g0027 others(5): Show |
8 | 240 | 0.0333 | -5 | c.201 others(24): Show |
SEZ6L | ENSG00000100095.19 | transcript | ENST00000248933.11 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SEZ6L_chr22_26164462_26388596 | 26361506 | CAAAAA | C | intron_variant | MODIFIER | HG01167.hp1 HG01192.hp2 HG01884.hp1 others(12): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0006others(7): Show | a0001c0001t0004a0001c0003t0001a0001c0003t0004others(10): Show | a0001c0001t0004g0173 a0001c0003t0001g0180 a0001c0003t0001g0183 others(12): Show |
15 | 240 | 0.0625 | -5 | c.260 others(24): Show |
SEZ6L | ENSG00000100095.19 | transcript | ENST00000248933.11 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SEZ6L_chr22_26164462_26388596 | 26361517 | AAAAAT | A | intron_variant | MODIFIER | HG01243.hp1 HG02717.hp1 HG02723.hp2 others(2): Show |
a0001a0002a0003 | a0001c0001a0001c0006a0002c0002others(2): Show | a0001c0001t0003a0001c0006t0007a0002c0002t0001others(2): Show | a0001c0001t0003g0127 a0001c0006t0007g0015 a0002c0002t0001g0093 others(2): Show |
5 | 240 | 0.0208 | -5 | c.260 others(24): Show |
SEZ6L | ENSG00000100095.19 | transcript | ENST00000248933.11 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SEZ6L_chr22_26164462_26388596 | 26361519 | AAATAT | A | intron_variant | MODIFIER | HG01099.hp1 HG01167.hp2 HG01169.hp1 others(2): Show |
a0001a0002a0003 | a0001c0001a0002c0005a0003c0004 | a0001c0001t0007a0002c0005t0007a0003c0004t0007 | a0001c0001t0007g0025 a0001c0001t0007g0026 a0001c0001t0007g0027 others(2): Show |
5 | 240 | 0.0208 | -5 | c.260 others(24): Show |
SEZ6L | ENSG00000100095.19 | transcript | ENST00000248933.11 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SEZ6_chr17_28949905_29011033 | 28966160 | TAAATA | T | intron_variant | MODIFIER | HG02735.hp1 HG03491.hp1 HG03492.hp2 others(4): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0094 a0001c0001t0001g0157 a0001c0001t0001g0191 others(3): Show |
7 | 300 | 0.0233 | -5 | c.105 others(24): Show |
SEZ6 | ENSG00000063015.21 | transcript | ENST00000317338.17 | protein_coding | 4/16 | chr17 | TogoVar | |||||||
SF1_chr11_64759606_64783542 | 64769744 | CTCTAT | C | intron_variant | MODIFIER | HG00609.hp1 HG00673.hp1 HG02015.hp2 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0047 others(3): Show |
28 | 342 | 0.0819 | -5 | c.480 others(20): Show |
SF1 | ENSG00000168066.22 | transcript | ENST00000377390.8 | protein_coding | 5/12 | chr11 | TogoVar | |||||||
SF3A1_chr22_30326988_30361894 | 30329088 | GTAGAT | G | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00642.hp2 HG00733.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0046 a0001c0002t0004g0047 a0001c0002t0004g0048 |
6 | 402 | 0.0149 | -5 | c.*55 others(16): Show |
SF3A1 | ENSG00000099995.19 | transcript | ENST00000215793.13 | protein_coding | 2899 | chr22 | TogoVar | |||||||
SF3A1_chr22_30326988_30361894 | 30345241 | CAGGGG | C | intron_variant | MODIFIER | HG00323.hp2 HG00544.hp1 HG00558.hp2 others(41): Show |
a0001a0005 | a0001c0002a0005c0005 | a0001c0002t0004a0005c0005t0004 | a0001c0002t0004g0011 a0001c0002t0004g0021 a0001c0002t0004g0026 others(25): Show |
44 | 402 | 0.1095 | -5 | c.394 others(18): Show |
SF3A1 | ENSG00000099995.19 | transcript | ENST00000215793.13 | protein_coding | 3/15 | chr22 | TogoVar | |||||||
SF3A3_chr1_37951975_37995022 | 37962087 | AAAAAC | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(374): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(49): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0019 others(363): Show |
377 | 400 | 0.9425 | -5 | c.137 others(24): Show |
SF3A3 | ENSG00000183431.12 | transcript | ENST00000373019.5 | protein_coding | 15/16 | chr1 | TogoVar | |||||||
SF3A3_chr1_37951975_37995022 | 37962285 | CAAAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG01192.hp2 others(17): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0005a0001c0001t0006others(3): Show | a0001c0001t0004g0037 a0001c0001t0004g0204 a0001c0001t0004g0360 others(17): Show |
20 | 400 | 0.0500 | -5 | c.137 others(24): Show |
SF3A3 | ENSG00000183431.12 | transcript | ENST00000373019.5 | protein_coding | 15/16 | chr1 | TogoVar | |||||||
SF3A3_chr1_37951975_37995022 | 37974297 | CTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(259): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0019 others(254): Show |
262 | 400 | 0.6550 | -5 | c.100 others(24): Show |
SF3A3 | ENSG00000183431.12 | transcript | ENST00000373019.5 | protein_coding | 12/16 | chr1 | TogoVar | |||||||
SF3A3_chr1_37951975_37995022 | 37983586 | CAAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG01106.hp1 HG01261.hp1 others(8): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0020 | a0001c0002t0002g0009 a0001c0002t0002g0150 a0001c0002t0002g0157 others(7): Show |
11 | 400 | 0.0275 | -5 | c.468 others(20): Show |
SF3A3 | ENSG00000183431.12 | transcript | ENST00000373019.5 | protein_coding | 6/16 | chr1 | TogoVar | |||||||
SF3B1_chr2_197384784_197440028 | 197389541 | GTTTTC | G | downstream_gene_variant | MODIFIER | HG02015.hp2 HG02486.hp2 HG02615.hp2 others(3): Show |
a0001 | a0001c0003a0001c0006 | a0001c0003t0001a0001c0003t0004a0001c0003t0021others(1): Show | a0001c0003t0001g0306 a0001c0003t0004g0307 a0001c0003t0004g0308 others(3): Show |
6 | 344 | 0.0174 | -5 | c.*27 others(16): Show |
SF3B1 | ENSG00000115524.17 | transcript | ENST00000335508.11 | protein_coding | 242 | chr2 | TogoVar | |||||||
SF3B4_chr1_149918317_149932803 | 149921236 | TCCTTG | T | downstream_gene_variant | MODIFIER | HG02258.hp2 HG02818.hp1 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 350 | 0.0086 | -5 | c.*23 others(16): Show |
SF3B4 | ENSG00000143368.10 | transcript | ENST00000271628.9 | protein_coding | 2080 | chr1 | TogoVar | |||||||
SFI1_chr22_31491536_31623588 | 31519256 | TTTTTC | T | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01257.hp1 others(5): Show |
a0001a0006a0012 | a0001c0006a0006c0008a0012c0019 | a0001c0006t0001a0006c0008t0001a0012c0019t0001 | a0001c0006t0001g0012 a0001c0006t0001g0013 a0001c0006t0001g0014 others(5): Show |
8 | 322 | 0.0248 | -5 | c.93- others(20): Show |
SFI1 | ENSG00000198089.16 | transcript | ENST00000400288.7 | protein_coding | 2/32 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SFI1_chr22_31491536_31623588 | 31524728 | TTTGAG | T | intron_variant | MODIFIER | HG01891.hp1 HG02818.hp2 HG03139.hp2 others(2): Show |
a0001a0006 | a0001c0026a0006c0008a0006c0013 | a0001c0026t0001a0006c0008t0001a0006c0013t0001 | a0001c0026t0001g0321 a0006c0008t0001g0316 a0006c0008t0001g0320 others(2): Show |
5 | 322 | 0.0155 | -5 | c.93- others(20): Show |
SFI1 | ENSG00000198089.16 | transcript | ENST00000400288.7 | protein_coding | 2/32 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SFI1_chr22_31491536_31623588 | 31540251 | ATATTT | A | intron_variant | MODIFIER | HG02055.hp2 HG03130.hp1 HG03471.hp2 others(1): Show |
a0001a0003 | a0001c0002a0003c0003 | a0001c0002t0001a0003c0003t0001 | a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0010 others(1): Show |
4 | 322 | 0.0124 | -5 | c.339 others(22): Show |
SFI1 | ENSG00000198089.16 | transcript | ENST00000400288.7 | protein_coding | 4/32 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SFI1_chr22_31491536_31623588 | 31545545 | TTTTAA | T | intron_variant | MODIFIER | HG00408.hp1 HG00621.hp1 HG00735.hp2 others(56): Show |
a0001a0002a0003others(4): Show | a0001c0026a0002c0001a0002c0020others(5): Show | a0001c0026t0001a0002c0001t0001a0002c0020t0001others(5): Show | a0001c0026t0001g0321 a0002c0001t0001g0130 a0002c0001t0001g0181 others(56): Show |
59 | 322 | 0.1832 | -5 | c.339 others(22): Show |
SFI1 | ENSG00000198089.16 | transcript | ENST00000400288.7 | protein_coding | 4/32 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SFI1_chr22_31491536_31623588 | 31568189 | GTGTGT | G | intron_variant | MODIFIER | HG00609.hp2 HG00621.hp2 HG01074.hp1 others(42): Show |
a0001a0002a0004others(6): Show | a0001c0002a0001c0051a0002c0001others(7): Show | a0001c0002t0001a0001c0002t0003a0001c0051t0003others(8): Show | a0001c0002t0001g0025 a0001c0002t0001g0028 a0001c0002t0001g0058 others(42): Show |
45 | 322 | 0.1398 | -5 | c.766 others(22): Show |
SFI1 | ENSG00000198089.16 | transcript | ENST00000400288.7 | protein_coding | 8/32 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SFI1_chr22_31491536_31623588 | 31598716 | CTTTTT | C | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01257.hp1 others(4): Show |
a0001a0012 | a0001c0006a0001c0026a0012c0019 | a0001c0006t0001a0001c0026t0001a0012c0019t0001 | a0001c0006t0001g0012 a0001c0006t0001g0013 a0001c0006t0001g0014 others(4): Show |
7 | 322 | 0.0217 | -5 | c.154 others(24): Show |
SFI1 | ENSG00000198089.16 | transcript | ENST00000400288.7 | protein_coding | 15/32 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SFI1_chr22_31491536_31623588 | 31598789 | CTTTTT | C | intron_variant | MODIFIER | HG00738.hp2 HG01517.hp1 HG01891.hp1 others(8): Show |
a0006a0010 | a0006c0008a0006c0013a0006c0045others(1): Show | a0006c0008t0001a0006c0013t0001a0006c0045t0001others(1): Show | a0006c0008t0001g0015 a0006c0008t0001g0016 a0006c0008t0001g0316 others(8): Show |
11 | 322 | 0.0342 | -5 | c.154 others(24): Show |
SFI1 | ENSG00000198089.16 | transcript | ENST00000400288.7 | protein_coding | 15/32 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SFMBT1_chr3_52898572_53051073 | 52958598 | ATAAAT | A | intron_variant | MODIFIER | HG00597.hp2 HG00733.hp1 HG00738.hp1 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0008 | a0001c0001t0004g0153 a0001c0001t0004g0290 a0001c0001t0004g0291 others(28): Show |
31 | 328 | 0.0945 | -5 | c.29- others(20): Show |
SFMBT1 | ENSG00000163935.14 | transcript | ENST00000394752.8 | protein_coding | 2/20 | chr3 | TogoVar | |||||||
SFMBT1_chr3_52898572_53051073 | 52984710 | AATACT | A | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00438.hp1 others(171): Show |
a0001a0003a0005 | a0001c0001a0001c0003a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 others(171): Show |
174 | 328 | 0.5305 | -5 | c.-13 others(26): Show |
SFMBT1 | ENSG00000163935.14 | transcript | ENST00000394752.8 | protein_coding | 1/20 | chr3 | TogoVar | |||||||
SFMBT1_chr3_52898572_53051073 | 53004251 | TCTTTC | T | intron_variant | MODIFIER | HG00323.hp1 HG00558.hp1 HG00597.hp1 others(93): Show |
a0001a0003a0005 | a0001c0001a0001c0003a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(4): Show | a0001c0001t0001g0040 a0001c0001t0001g0172 a0001c0001t0001g0173 others(93): Show |
96 | 328 | 0.2927 | -5 | c.-13 others(26): Show |
SFMBT1 | ENSG00000163935.14 | transcript | ENST00000394752.8 | protein_coding | 1/20 | chr3 | TogoVar | |||||||
SFMBT1_chr3_52898572_53051073 | 53014476 | AAAAAC | A | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00438.hp2 others(146): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 others(146): Show |
149 | 328 | 0.4543 | -5 | c.-13 others(26): Show |
SFMBT1 | ENSG00000163935.14 | transcript | ENST00000394752.8 | protein_coding | 1/20 | chr3 | TogoVar | |||||||
SFMBT1_chr3_52898572_53051073 | 53040968 | ATTTTT | A | intron_variant | MODIFIER | HG00438.hp2 HG00642.hp2 HG01099.hp1 others(23): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0003a0001c0004t0004others(1): Show | a0001c0001t0002g0002 a0001c0001t0002g0065 a0001c0001t0002g0066 others(23): Show |
26 | 328 | 0.0793 | -5 | c.-13 others(24): Show |
SFMBT1 | ENSG00000163935.14 | transcript | ENST00000394752.8 | protein_coding | 1/20 | chr3 | TogoVar | |||||||
SFMBT2_chr10_7153624_7416034 | 7257098 | AAGGGG | A | intron_variant | MODIFIER | HG00408.hp1 HG00642.hp2 HG00738.hp2 others(30): Show |
a0001 | a0001c0001a0001c0003a0001c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0022 a0001c0001t0001g0044 a0001c0001t0001g0137 others(30): Show |
33 | 144 | 0.2292 | -5 | c.871 others(22): Show |
SFMBT2 | ENSG00000198879.13 | transcript | ENST00000397167.6 | protein_coding | 7/20 | chr10 | TogoVar | |||||||
SFMBT2_chr10_7153624_7416034 | 7269825 | CTCTTT | C | intron_variant | MODIFIER | HG00408.hp1 HG00642.hp2 HG01192.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0022 a0001c0001t0001g0044 a0001c0001t0001g0083 others(12): Show |
15 | 144 | 0.1042 | -5 | c.870 others(22): Show |
SFMBT2 | ENSG00000198879.13 | transcript | ENST00000397167.6 | protein_coding | 7/20 | chr10 | TogoVar | |||||||
SFMBT2_chr10_7153624_7416034 | 7346988 | TCAAAA | T | intron_variant | MODIFIER | HG02145.hp1 NA21309.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0006 | a0001c0001t0001g0070 a0001c0006t0006g0066 |
2 | 144 | 0.0139 | -5 | c.436 others(24): Show |
SFMBT2 | ENSG00000198879.13 | transcript | ENST00000397167.6 | protein_coding | 4/20 | chr10 | TogoVar | |||||||
SFMBT2_chr10_7153624_7416034 | 7349440 | CTTTTT | C | intron_variant | MODIFIER | HG02572.hp2 HG02717.hp1 HG02886.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0011a0001c0002t0002a0001c0002t0024 | a0001c0001t0011g0118 a0001c0001t0011g0119 a0001c0001t0011g0120 others(2): Show |
5 | 144 | 0.0347 | -5 | c.436 others(24): Show |
SFMBT2 | ENSG00000198879.13 | transcript | ENST00000397167.6 | protein_coding | 4/20 | chr10 | TogoVar | |||||||
SFMBT2_chr10_7153624_7416034 | 7373130 | CTAGAT | C | intron_variant | MODIFIER | HG02145.hp1 NA21309.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0006 | a0001c0001t0001g0070 a0001c0006t0006g0066 |
2 | 144 | 0.0139 | -5 | c.101 others(22): Show |
SFMBT2 | ENSG00000198879.13 | transcript | ENST00000397167.6 | protein_coding | 2/20 | chr10 | TogoVar | |||||||
SFMBT2_chr10_7153624_7416034 | 7393029 | ATATAT | A | intron_variant | MODIFIER | HG01243.hp2 HG02818.hp2 HG02965.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0007a0001c0001t0014others(1): Show | a0001c0001t0003g0030 a0001c0001t0007g0055 a0001c0001t0014g0054 others(1): Show |
4 | 144 | 0.0278 | -5 | c.-51 others(24): Show |
SFMBT2 | ENSG00000198879.13 | transcript | ENST00000397167.6 | protein_coding | 1/20 | chr10 | TogoVar | |||||||
SFN_chr1_26858149_26869456 | 26866673 | TTTTTA | T | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG01070.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0004g0000 others(1): Show |
19 | 332 | 0.0572 | -5 | c.*27 others(16): Show |
SFN | ENSG00000175793.12 | transcript | ENST00000339276.6 | protein_coding | 2218 | chr1 | TogoVar | |||||||
SFN_chr1_26858149_26869456 | 26868247 | TTTCTC | T | downstream_gene_variant | MODIFIER | HG01952.hp2 HG02056.hp2 NA18952.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0000 a0001c0001t0002g0000 |
3 | 332 | 0.0090 | -5 | c.*42 others(16): Show |
SFN | ENSG00000175793.12 | transcript | ENST00000339276.6 | protein_coding | 3792 | chr1 | TogoVar | |||||||
SFN_chr1_26858149_26869456 | 26868303 | TCTCTC | T | downstream_gene_variant | MODIFIER | HG01099.hp2 HG01358.hp2 HG02109.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 3 | 332 | 0.0090 | -5 | c.*43 others(16): Show |
SFN | ENSG00000175793.12 | transcript | ENST00000339276.6 | protein_coding | 3848 | chr1 | TogoVar | |||||||
SFPQ_chr1_35177936_35198145 | 35183104 | TAGAAG | T | 3_prime_UTR_variant | MODIFIER | HG01109.hp2 HG01175.hp2 HG01192.hp2 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0006others(1): Show | a0001c0001t0004g0010 a0001c0001t0004g0014 a0001c0001t0004g0015 others(7): Show |
35 | 380 | 0.0921 | -5 | c.*13 others(16): Show |
SFPQ | ENSG00000116560.12 | transcript | ENST00000357214.6 | protein_coding | 10/10 | 1347 | chr1 | TogoVar | ||||||
SFSWAP_chr12_131706090_131804738 | 131715749 | TTTACA | T | intron_variant | MODIFIER | HG00280.hp2 HG00597.hp1 HG00609.hp1 others(80): Show |
a0001a0003a0007others(4): Show | a0001c0001a0003c0005a0007c0022others(4): Show | a0001c0001t0001a0003c0005t0001a0007c0022t0001others(4): Show | a0001c0001t0001g0002 a0001c0001t0001g0102 a0001c0001t0001g0103 others(79): Show |
83 | 318 | 0.2610 | -5 | c.520 others(20): Show |
SFSWAP | ENSG00000061936.10 | transcript | ENST00000261674.9 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SFSWAP_chr12_131706090_131804738 | 131795997 | GGGGGA | G | intron_variant | MODIFIER | HG00323.hp1 HG00733.hp1 HG01069.hp2 others(17): Show |
a0001a0004a0009 | a0001c0001a0004c0009a0009c0027 | a0001c0001t0001a0004c0009t0001a0009c0027t0001 | a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0063 others(17): Show |
20 | 318 | 0.0629 | -5 | c.253 others(24): Show |
SFSWAP | ENSG00000061936.10 | transcript | ENST00000261674.9 | protein_coding | 15/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SFSWAP_chr12_131706090_131804738 | 131796020 | GGGGGA | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00639.hp2 others(20): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0007t0001others(1): Show | a0001c0001t0001g0265 a0001c0002t0001g0283 a0001c0002t0001g0285 others(20): Show |
23 | 318 | 0.0723 | -5 | c.253 others(24): Show |
SFSWAP | ENSG00000061936.10 | transcript | ENST00000261674.9 | protein_coding | 15/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SFT2D1_chr6_166314728_166347545 | 166319810 | TTAAAA | T | 3_prime_UTR_variant | MODIFIER | HG02015.hp2 HG02145.hp2 HG02818.hp1 others(9): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0005 | a0001c0002t0003g0021 a0001c0002t0003g0048 a0001c0002t0003g0172 others(5): Show |
12 | 388 | 0.0309 | -5 | c.*40 others(14): Show |
SFT2D1 | ENSG00000198818.10 | transcript | ENST00000361731.4 | protein_coding | 8/8 | 402 | chr6 | TogoVar | ||||||
SFT2D1_chr6_166314728_166347545 | 166329595 | TTAAGA | T | splice_region_variant others(1): Show |
LOW | HG02717.hp2 HG02970.hp1 HG03139.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0045 a0001c0002t0004g0162 a0001c0002t0004g0164 |
4 | 388 | 0.0103 | -5 | c.151 others(17): Show |
SFT2D1 | ENSG00000198818.10 | transcript | ENST00000361731.4 | protein_coding | 2/7 | chr6 | TogoVar | |||||||
SFT2D2_chr1_168221004_168258021 | 168236880 | GTTTAA | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(152): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0007a0001c0001t0013others(27): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(85): Show |
155 | 352 | 0.4403 | -5 | c.413 others(20): Show |
SFT2D2 | ENSG00000213064.10 | transcript | ENST00000271375.7 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SFTA2_chr6_30926353_30937170 | 30929607 | ATTTTT | A | downstream_gene_variant | MODIFIER | HG01167.hp2 HG02027.hp2 HG03490.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001 | a0001c0001t0003g0003 a0001c0002t0001g0001 |
7 | 435 | 0.0161 | -5 | c.*18 others(16): Show |
SFTA2 | ENSG00000196260.5 | transcript | ENST00000359086.4 | protein_coding | 1745 | chr6 | TogoVar | |||||||
SFTPB_chr2_85652314_85673199 | 85667387 | TCATCC | T | intron_variant | MODIFIER | HG01167.hp2 HG02451.hp2 HG02615.hp2 others(4): Show |
a0001a0002a0008others(1): Show | a0001c0001a0002c0002a0008c0013others(1): Show | a0001c0001t0002a0002c0002t0002a0002c0002t0007others(2): Show | a0001c0001t0002g0119 a0001c0001t0002g0120 a0002c0002t0002g0118 others(4): Show |
7 | 426 | 0.0164 | -5 | c.196 others(20): Show |
SFTPB | ENSG00000168878.19 | transcript | ENST00000519937.7 | protein_coding | 2/10 | chr2 | TogoVar | |||||||
SFXN1_chr5_175473560_175534742 | 175508222 | ATTTTT | A | intron_variant | MODIFIER | HG01257.hp1 HG02258.hp2 HG02451.hp1 others(7): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0013a0001c0001t0019a0001c0001t0047others(1): Show | a0001c0001t0013g0056 a0001c0001t0013g0241 a0001c0001t0013g0242 others(7): Show |
10 | 372 | 0.0269 | -5 | c.165 others(20): Show |
SFXN1 | ENSG00000164466.13 | transcript | ENST00000321442.10 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SFXN1_chr5_175473560_175534742 | 175513296 | TAAAAA | T | intron_variant | MODIFIER | HG00140.hp2 HG02109.hp2 HG02257.hp1 others(12): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0004a0001c0001t0026a0001c0001t0047others(8): Show | a0001c0001t0004g0035 a0001c0001t0004g0278 a0001c0001t0026g0234 others(12): Show |
15 | 372 | 0.0403 | -5 | c.597 others(20): Show |
SFXN1 | ENSG00000164466.13 | transcript | ENST00000321442.10 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |