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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SHISA9_chr16_12896598_13245416 | 12970495 | ATATTT | A | intron_variant | MODIFIER | HG00280.hp1 HG01346.hp1 HG02109.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0202 a0001c0001t0002g0152 a0001c0001t0002g0207 others(4): Show |
7 | 214 | 0.0327 | -5 | c.691 others(24): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SHISA9_chr16_12896598_13245416 | 13086371 | AAAAAG | A | intron_variant | MODIFIER | HG02155.hp2 HG02698.hp2 HG03491.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0016a0001c0001t0021others(4): Show | a0001c0001t0012g0145 a0001c0001t0016g0212 a0001c0001t0021g0061 others(4): Show |
7 | 214 | 0.0327 | -5 | c.692 others(26): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SHISA9_chr16_12896598_13245416 | 13125692 | AATTAG | A | intron_variant | MODIFIER | HG02280.hp2 HG02647.hp1 HG02647.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0013a0001c0001t0020others(3): Show | a0001c0001t0009g0214 a0001c0001t0013g0016 a0001c0001t0013g0122 others(4): Show |
7 | 214 | 0.0327 | -5 | c.692 others(24): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SHISA9_chr16_12896598_13245416 | 13140085 | TCTTCC | T | intron_variant | MODIFIER | HG02155.hp2 HG02258.hp2 HG02559.hp1 others(6): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0005a0001c0001t0008a0001c0001t0017others(5): Show | a0001c0001t0005g0178 a0001c0001t0008g0075 a0001c0001t0008g0111 others(6): Show |
9 | 214 | 0.0421 | -5 | c.692 others(24): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SHISA9_chr16_12896598_13245416 | 13140138 | TCCCTC | T | intron_variant | MODIFIER | HG00609.hp1 HG03041.hp2 HG03209.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0002g0115 a0001c0001t0003g0099 a0001c0001t0004g0041 others(5): Show |
8 | 214 | 0.0374 | -5 | c.692 others(24): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SHISA9_chr16_12896598_13245416 | 13177528 | CTTTTA | C | intron_variant | MODIFIER | HG02647.hp2 HG02965.hp2 HG03540.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0020a0001c0001t0053others(1): Show | a0001c0001t0013g0122 a0001c0001t0020g0047 a0001c0001t0053g0055 others(1): Show |
4 | 214 | 0.0187 | -5 | c.692 others(24): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SHISA9_chr16_12896598_13245416 | 13177647 | TCACGG | T | intron_variant | MODIFIER | HG01346.hp2 NA20905.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0072 | a0001c0001t0002g0173 a0001c0001t0072g0165 |
2 | 214 | 0.0094 | -5 | c.692 others(24): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | chr16 | TogoVar | |||||||
SHISA9_chr16_12896598_13245416 | 13179320 | AAAAAC | A | intron_variant | MODIFIER | HG00280.hp2 HG01070.hp2 HG01167.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0022others(4): Show | a0001c0001t0001g0089 a0001c0001t0001g0197 a0001c0001t0002g0177 others(5): Show |
8 | 214 | 0.0374 | -5 | c.692 others(24): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SHISAL1_chr22_44238665_44317951 | 44251936 | TTATGC | T | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00621.hp1 others(83): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0011a0001c0001t0014others(13): Show | a0001c0001t0001g0006 a0001c0001t0001g0073 a0001c0001t0001g0081 others(82): Show |
86 | 380 | 0.2263 | -5 | c.600 others(22): Show |
SHISAL1 | ENSG00000138944.8 | transcript | ENST00000381176.5 | protein_coding | 4/4 | chr22 | TogoVar | |||||||
SHISAL1_chr22_44238665_44317951 | 44277449 | CAAACA | C | intron_variant | MODIFIER | HG00423.hp1 HG01069.hp1 HG01071.hp2 others(41): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0006 a0001c0001t0001g0081 a0001c0001t0001g0082 others(39): Show |
44 | 380 | 0.1158 | -5 | c.599 others(22): Show |
SHISAL1 | ENSG00000138944.8 | transcript | ENST00000381176.5 | protein_coding | 4/4 | chr22 | TogoVar | |||||||
SHKBP1_chr19_40571873_40596397 | 40574115 | CAAACA | C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(116): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0002a0001c0001t0003a0001c0002t0001others(12): Show | a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0021 others(68): Show |
119 | 392 | 0.3036 | -5 | c.-27 others(16): Show |
SHKBP1 | ENSG00000160410.15 | transcript | ENST00000291842.10 | protein_coding | 2757 | chr19 | TogoVar | |||||||
SHKBP1_chr19_40571873_40596397 | 40595905 | ATTTTT | A | downstream_gene_variant | MODIFIER | HG01884.hp1 HG01891.hp1 HG02055.hp1 others(6): Show |
a0001 | a0001c0002a0001c0007 | a0001c0002t0001a0001c0002t0002a0001c0007t0001 | a0001c0002t0001g0093 a0001c0002t0001g0116 a0001c0002t0001g0191 others(5): Show |
9 | 392 | 0.0230 | -5 | c.*46 others(16): Show |
SHKBP1 | ENSG00000160410.15 | transcript | ENST00000291842.10 | protein_coding | 4509 | chr19 | TogoVar | |||||||
SHLD1_chr20_5745401_5869395 | 5767122 | ATTTTC | A | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(111): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0011others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0014 a0001c0001t0001g0033 a0001c0001t0001g0050 others(111): Show |
114 | 328 | 0.3476 | -5 | c.-4- others(20): Show |
SHLD1 | ENSG00000171984.15 | transcript | ENST00000303142.11 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SHLD1_chr20_5745401_5869395 | 5775923 | ATTTTT | A | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01099.hp2 others(5): Show |
a0002 | a0002c0003a0002c0004 | a0002c0003t0001a0002c0003t0003a0002c0004t0002 | a0002c0003t0001g0089 a0002c0003t0001g0090 a0002c0003t0001g0091 others(5): Show |
8 | 328 | 0.0244 | -5 | c.178 others(22): Show |
SHLD1 | ENSG00000171984.15 | transcript | ENST00000303142.11 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SHLD1_chr20_5745401_5869395 | 5786590 | AAAAAG | A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(93): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0002c0003others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(16): Show | a0001c0001t0001g0040 a0001c0001t0001g0063 a0001c0001t0001g0066 others(93): Show |
96 | 328 | 0.2927 | -5 | c.178 others(24): Show |
SHLD1 | ENSG00000171984.15 | transcript | ENST00000303142.11 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SHLD1_chr20_5745401_5869395 | 5799467 | ATTTTT | A | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG01978.hp2 others(9): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0040 a0001c0001t0001g0066 a0001c0001t0001g0279 others(9): Show |
12 | 328 | 0.0366 | -5 | c.178 others(24): Show |
SHLD1 | ENSG00000171984.15 | transcript | ENST00000303142.11 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SHLD1_chr20_5745401_5869395 | 5833046 | TCCTGA | T | intron_variant | MODIFIER | HG00438.hp1 HG00621.hp1 HG00621.hp2 others(19): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0015others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0040 a0001c0001t0001g0073 a0001c0001t0001g0075 others(19): Show |
22 | 328 | 0.0671 | -5 | c.179 others(24): Show |
SHLD1 | ENSG00000171984.15 | transcript | ENST00000303142.11 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SHLD2_chr10_87090206_87196465 | 87155160 | ATCCTC | A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(171): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0009others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(15): Show | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 others(170): Show |
174 | 340 | 0.5118 | -5 | c.152 others(24): Show |
SHLD2 | ENSG00000122376.12 | transcript | ENST00000298786.5 | protein_coding | 3/9 | chr10 | TogoVar | |||||||
SHLD2_chr10_87090206_87196465 | 87163936 | ATTTTC | A | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00558.hp1 others(55): Show |
a0001a0008a0012 | a0001c0001a0001c0009a0001c0018others(2): Show | a0001c0001t0001a0001c0001t0007a0001c0009t0001others(3): Show | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 others(55): Show |
58 | 340 | 0.1706 | -5 | c.163 others(24): Show |
SHLD2 | ENSG00000122376.12 | transcript | ENST00000298786.5 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SHMT1_chr17_18322873_18368550 | 18355050 | CAAAAA | C | intron_variant | MODIFIER | HG01261.hp1 HG02145.hp1 HG02615.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0067 a0002c0002t0002g0021 a0002c0002t0002g0030 others(2): Show |
5 | 220 | 0.0227 | -5 | c.96+ others(18): Show |
SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 2/11 | chr17 | TogoVar | |||||||
SHOC1_chr9_111681171_111799937 | 111722729 | CTTATT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(106): Show |
a0001a0002a0014others(2): Show | a0001c0001a0001c0027a0002c0007others(4): Show | a0001c0001t0001a0001c0027t0001a0002c0007t0002others(4): Show | a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0013 others(99): Show |
109 | 296 | 0.3682 | -5 | c.195 others(22): Show |
SHOC1 | ENSG00000165181.17 | transcript | ENST00000682961.1 | protein_coding | 14/27 | chr9 | TogoVar | |||||||
SHOC1_chr9_111681171_111799937 | 111731803 | AAACAT | A | intron_variant | MODIFIER | HG00544.hp1 HG00621.hp1 HG01261.hp2 others(21): Show |
a0005a0011a0017 | a0005c0005a0011c0014a0017c0015 | a0005c0005t0003a0011c0014t0002a0017c0015t0003 | a0005c0005t0003g0003 a0005c0005t0003g0006 a0005c0005t0003g0020 others(18): Show |
24 | 296 | 0.0811 | -5 | c.141 others(24): Show |
SHOC1 | ENSG00000165181.17 | transcript | ENST00000682961.1 | protein_coding | 12/27 | chr9 | TogoVar | |||||||
SHOC1_chr9_111681171_111799937 | 111749092 | CTTCTT | C | intron_variant | MODIFIER | HG02145.hp1 HG02559.hp1 HG02818.hp2 others(2): Show |
a0002 | a0002c0007 | a0002c0007t0004 | a0002c0007t0004g0153 a0002c0007t0004g0154 a0002c0007t0004g0155 others(2): Show |
5 | 296 | 0.0169 | -5 | c.863 others(20): Show |
SHOC1 | ENSG00000165181.17 | transcript | ENST00000682961.1 | protein_coding | 8/27 | chr9 | TogoVar | |||||||
SHOC1_chr9_111681171_111799937 | 111769981 | TTTTTG | T | intron_variant | MODIFIER | HG00544.hp1 HG00621.hp1 HG01261.hp2 others(22): Show |
a0002a0005a0006others(2): Show | a0002c0007a0005c0005a0006c0006others(2): Show | a0002c0007t0004a0002c0007t0006a0005c0005t0003others(3): Show | a0002c0007t0004g0221 a0002c0007t0006g0266 a0005c0005t0003g0003 others(19): Show |
25 | 296 | 0.0845 | -5 | c.442 others(22): Show |
SHOC1 | ENSG00000165181.17 | transcript | ENST00000682961.1 | protein_coding | 5/27 | chr9 | TogoVar | |||||||
SHOC1_chr9_111681171_111799937 | 111779113 | AAAGAG | A | intron_variant | MODIFIER | HG00544.hp1 HG00621.hp1 HG01261.hp2 others(22): Show |
a0005a0006a0011others(1): Show | a0005c0005a0006c0006a0011c0014others(1): Show | a0005c0005t0003a0006c0006t0001a0011c0014t0002others(1): Show | a0005c0005t0003g0003 a0005c0005t0003g0006 a0005c0005t0003g0020 others(19): Show |
25 | 296 | 0.0845 | -5 | c.257 others(22): Show |
SHOC1 | ENSG00000165181.17 | transcript | ENST00000682961.1 | protein_coding | 4/27 | chr9 | TogoVar | |||||||
SHOC2_chr10_110914604_111018665 | 110925089 | AAAATT | A | intron_variant | MODIFIER | HG01175.hp2 HG01261.hp1 HG01978.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0014others(1): Show | a0001c0001t0001g0016 a0001c0001t0001g0026 a0001c0001t0001g0035 others(17): Show |
22 | 386 | 0.0570 | -5 | c.-23 others(24): Show |
SHOC2 | ENSG00000108061.13 | transcript | ENST00000369452.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SHOC2_chr10_110914604_111018665 | 110930052 | TATATG | T | intron_variant | MODIFIER | HG01074.hp2 HG01168.hp1 HG01884.hp1 others(8): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0004a0001c0005t0004 | a0001c0001t0004g0027 a0001c0001t0004g0333 a0001c0001t0004g0334 others(7): Show |
11 | 386 | 0.0285 | -5 | c.-23 others(26): Show |
SHOC2 | ENSG00000108061.13 | transcript | ENST00000369452.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SHOC2_chr10_110914604_111018665 | 110968550 | TTTATA | T | intron_variant | MODIFIER | HG00408.hp2 HG02040.hp2 NA18982.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0061 a0001c0001t0001g0096 others(1): Show |
5 | 386 | 0.0130 | -5 | c.703 others(22): Show |
SHOC2 | ENSG00000108061.13 | transcript | ENST00000369452.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SHOX_chrX_625791_656584 | 645388 | GTATTT | G | 3_prime_UTR_variant | MODIFIER | HG00741.hp1 HG02145.hp1 HG02630.hp2 others(8): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0019a0001c0001t0175a0001c0001t0176others(8): Show | a0001c0001t0019g0082 a0001c0001t0175g0168 a0001c0001t0176g0184 others(8): Show |
11 | 220 | 0.0500 | -5 | c.*75 others(14): Show |
SHOX | ENSG00000185960.15 | transcript | ENST00000686671.1 | protein_coding | 5/5 | 754 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
SHPK_chr17_3603240_3641250 | 3614526 | AAAAAG | A | intron_variant | MODIFIER | HG01099.hp2 HG01256.hp2 HG02015.hp2 others(16): Show |
a0001 | a0001c0001a0001c0018 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0097 a0001c0001t0002g0144 a0001c0001t0003g0109 others(16): Show |
19 | 382 | 0.0497 | -5 | c.102 others(22): Show |
SHPK | ENSG00000197417.9 | transcript | ENST00000225519.5 | protein_coding | 6/6 | chr17 | TogoVar | |||||||
SHPK_chr17_3603240_3641250 | 3624639 | GTTTTA | G | intron_variant | MODIFIER | HG02257.hp2 HG02258.hp2 HG02976.hp2 |
a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0011 a0003c0003t0004g0190 |
3 | 382 | 0.0079 | -5 | c.311 others(20): Show |
SHPK | ENSG00000197417.9 | transcript | ENST00000225519.5 | protein_coding | 2/6 | chr17 | TogoVar | |||||||
SHPRH_chr6_145879807_145969358 | 145915930 | ATTCTC | A | intron_variant | MODIFIER | HG02135.hp2 HG02155.hp2 NA18963.hp1 others(3): Show |
a0004 | a0004c0006 | a0004c0006t0007 | a0004c0006t0007g0008 a0004c0006t0007g0045 a0004c0006t0007g0046 others(1): Show |
6 | 354 | 0.0170 | -5 | c.425 others(24): Show |
SHPRH | ENSG00000146414.17 | transcript | ENST00000275233.12 | protein_coding | 23/29 | chr6 | TogoVar | |||||||
SHPRH_chr6_145879807_145969358 | 145969310 | TATCAG | T | upstream_gene_variant | MODIFIER | HG01081.hp1 HG01123.hp2 HG01884.hp1 others(13): Show |
a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0007 a0002c0004t0003g0043 a0002c0004t0003g0262 others(9): Show |
16 | 354 | 0.0452 | -5 | c.-56 others(16): Show |
SHPRH | ENSG00000146414.17 | transcript | ENST00000275233.12 | protein_coding | 4953 | chr6 | TogoVar | |||||||
SHQ1_chr3_72744277_72853445 | 72748690 | CAAACA | C | downstream_gene_variant | MODIFIER | HG01175.hp2 HG01243.hp2 HG01255.hp1 others(19): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0002c0002t0006a0003c0003t0001 | a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0012 others(19): Show |
22 | 222 | 0.0991 | -5 | c.*15 others(16): Show |
SHQ1 | ENSG00000144736.14 | transcript | ENST00000325599.13 | protein_coding | 586 | chr3 | TogoVar | |||||||
SHQ1_chr3_72744277_72853445 | 72749677 | CTAAAA | C | 3_prime_UTR_variant | MODIFIER | HG02486.hp2 HG02723.hp1 HG03041.hp1 others(2): Show |
a0001a0008 | a0001c0001a0008c0009 | a0001c0001t0002a0008c0009t0002 | a0001c0001t0002g0190 a0001c0001t0002g0194 a0001c0001t0002g0195 others(2): Show |
5 | 222 | 0.0225 | -5 | c.*60 others(14): Show |
SHQ1 | ENSG00000144736.14 | transcript | ENST00000325599.13 | protein_coding | 11/11 | 602 | chr3 | TogoVar | ||||||
SHQ1_chr3_72744277_72853445 | 72778526 | CTTTCA | C | intron_variant | MODIFIER | HG00558.hp2 HG02165.hp1 NA18950.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 a0001c0001t0001g0178 a0001c0001t0001g0179 |
3 | 222 | 0.0135 | -5 | c.118 others(26): Show |
SHQ1 | ENSG00000144736.14 | transcript | ENST00000325599.13 | protein_coding | 10/10 | chr3 | TogoVar | |||||||
SHQ1_chr3_72744277_72853445 | 72830374 | TATACA | T | intron_variant | MODIFIER | HG01884.hp1 HG02559.hp1 HG03098.hp2 |
a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0025 a0002c0002t0005g0026 a0002c0002t0005g0027 |
3 | 222 | 0.0135 | -5 | c.599 others(22): Show |
SHQ1 | ENSG00000144736.14 | transcript | ENST00000325599.13 | protein_coding | 5/10 | chr3 | TogoVar | |||||||
SHQ1_chr3_72744277_72853445 | 72833510 | ACAGAC | A | intron_variant | MODIFIER | HG01175.hp1 NA18998.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 a0001c0001t0001g0188 |
2 | 222 | 0.0090 | -5 | c.487 others(22): Show |
SHQ1 | ENSG00000144736.14 | transcript | ENST00000325599.13 | protein_coding | 4/10 | chr3 | TogoVar | |||||||
SHQ1_chr3_72744277_72853445 | 72833565 | ATAGAT | A | intron_variant | MODIFIER | HG03516.hp1 HG06807.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0023 a0002c0002t0001g0024 |
2 | 222 | 0.0090 | -5 | c.487 others(22): Show |
SHQ1 | ENSG00000144736.14 | transcript | ENST00000325599.13 | protein_coding | 4/10 | chr3 | TogoVar | |||||||
SHROOM1_chr5_132817141_132835647 | 132820737 | CTTTTT | C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00544.hp1 others(59): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0002g0003 others(31): Show |
62 | 396 | 0.1566 | -5 | c.*20 others(16): Show |
SHROOM1 | ENSG00000164403.15 | transcript | ENST00000378679.8 | protein_coding | 1403 | chr5 | TogoVar | |||||||
SHROOM1_chr5_132817141_132835647 | 132827613 | TCAAAA | T | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00423.hp2 HG00639.hp1 others(50): Show |
a0001a0006a0012others(1): Show | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(16): Show | a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0003g0059 others(22): Show |
53 | 396 | 0.1338 | -5 | c.-50 others(19): Show |
SHROOM1 | ENSG00000164403.15 | transcript | ENST00000378679.8 | protein_coding | 1/9 | chr5 | TogoVar | |||||||
SHROOM2_chrX_9781429_9954443 | 9787987 | TTCTTC | T | intron_variant | MODIFIER | HG00741.hp2 HG01070.hp1 HG01175.hp1 others(12): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0007others(8): Show | a0001c0001t0001a0001c0001t0023a0001c0003t0001others(9): Show | a0001c0001t0001g0177 a0001c0001t0001g0181 a0001c0001t0001g0183 others(12): Show |
15 | 256 | 0.0586 | -5 | c.165 others(22): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SHROOM2_chrX_9781429_9954443 | 9790655 | AGCTAT | A | intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 256 | 0.0039 | -5 | c.165 others(22): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 1/9 | chrX | TogoVar | |||||||
SHROOM2_chrX_9781429_9954443 | 9790909 | AAGTCC | A | intron_variant | MODIFIER | HG00408.hp2 | a0014 | a0014c0072 | a0014c0072t0001 | a0014c0072t0001g0078 | 1 | 256 | 0.0039 | -5 | c.165 others(22): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 1/9 | chrX | TogoVar | |||||||
SHROOM2_chrX_9781429_9954443 | 9794348 | GTCTTC | G | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG01099.hp1 others(18): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0034others(10): Show | a0001c0001t0001a0001c0001t0017a0001c0003t0001others(12): Show | a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0199 others(18): Show |
21 | 256 | 0.0820 | -5 | c.165 others(22): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SHROOM2_chrX_9781429_9954443 | 9830584 | CTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(117): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0003a0001c0007others(37): Show | a0001c0001t0001a0001c0001t0017a0001c0001t0018others(50): Show | a0001c0001t0001g0003 a0001c0001t0001g0018 a0001c0001t0001g0022 others(117): Show |
120 | 256 | 0.4688 | -5 | c.166 others(24): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SHROOM2_chrX_9781429_9954443 | 9865554 | CTTTTT | C | intron_variant | MODIFIER | HG00544.hp2 HG01175.hp2 HG02080.hp2 others(23): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0017a0002c0002others(15): Show | a0001c0001t0001a0001c0017t0001a0001c0017t0026others(18): Show | a0001c0001t0001g0170 a0001c0001t0001g0199 a0001c0017t0001g0045 others(23): Show |
26 | 256 | 0.1016 | -5 | c.166 others(22): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SHROOM2_chrX_9781429_9954443 | 9868727 | CTTTTT | C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(65): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0003a0001c0007others(30): Show | a0001c0001t0001a0001c0001t0023a0001c0003t0001others(36): Show | a0001c0001t0001g0034 a0001c0001t0001g0181 a0001c0001t0001g0212 others(65): Show |
68 | 256 | 0.2656 | -5 | c.166 others(22): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SHROOM2_chrX_9781429_9954443 | 9875080 | CAAAAA | C | intron_variant | MODIFIER | HG03195.hp2 NA19240.hp1 |
a0011a0049 | a0011c0053a0049c0052 | a0011c0053t0005a0049c0052t0001 | a0011c0053t0005g0134 a0049c0052t0001g0248 |
2 | 256 | 0.0078 | -5 | c.317 others(22): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SHROOM2_chrX_9781429_9954443 | 9884677 | TAAAAA | T | intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 256 | 0.0039 | -5 | c.318 others(22): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar |