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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPIDR_chr8_47255938_47741306 | 47545071 | T | TTTTCTTT others(1): Show |
intron_variant | MODIFIER | HG00621.hp1 HG03491.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 a0001c0001t0001g0197 a0001c0001t0001g0201 |
3 | 216 | 0.0139 | 8 | c.109 others(29): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPIDR_chr8_47255938_47741306 | 47550846 | C | CCTCCTTC others(1): Show |
intron_variant | MODIFIER | HG00438.hp2 HG02165.hp1 NA18974.hp1 others(1): Show |
a0001a0009 | a0001c0001a0009c0012 | a0001c0001t0001a0009c0012t0001 | a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0107 others(1): Show |
4 | 216 | 0.0185 | 8 | c.109 others(29): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 8/19 | chr8 | TogoVar | |||||||
SPIDR_chr8_47255938_47741306 | 47572673 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00621.hp2 HG00673.hp1 others(32): Show |
a0001a0004a0007 | a0001c0001a0004c0004a0007c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0012 a0001c0001t0001g0069 a0001c0001t0001g0070 others(32): Show |
35 | 216 | 0.1620 | 8 | c.109 others(29): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPIDR_chr8_47255938_47741306 | 47588026 | C | CATATAAA others(1): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01993.hp1 HG04115.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0073 a0001c0001t0001g0115 |
3 | 216 | 0.0139 | 8 | c.109 others(27): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPIDR_chr8_47255938_47741306 | 47647616 | A | AAGAGAGA others(1): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01243.hp2 HG01346.hp1 others(10): Show |
a0001a0003a0007 | a0001c0001a0003c0003a0007c0009 | a0001c0001t0001a0001c0001t0002a0003c0003t0002others(1): Show | a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0127 others(10): Show |
13 | 216 | 0.0602 | 8 | c.154 others(29): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPIDR_chr8_47255938_47741306 | 47671585 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01192.hp1 HG01192.hp2 others(33): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0013 a0001c0001t0001g0070 a0001c0001t0001g0089 others(33): Show |
36 | 216 | 0.1667 | 8 | c.154 others(27): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPIDR_chr8_47255938_47741306 | 47685477 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02615.hp2 HG02922.hp2 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0186 a0001c0001t0002g0133 a0001c0001t0003g0003 others(4): Show |
7 | 216 | 0.0324 | 8 | c.168 others(29): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 11/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPIDR_chr8_47255938_47741306 | 47685505 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0077 a0001c0001t0001g0087 a0001c0001t0001g0089 others(7): Show |
10 | 216 | 0.0463 | 8 | c.168 others(29): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 11/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPIDR_chr8_47255938_47741306 | 47685509 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00733.hp2 HG01081.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0081 a0001c0001t0001g0085 a0001c0001t0001g0091 others(6): Show |
9 | 216 | 0.0417 | 8 | c.168 others(29): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 11/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPIDR_chr8_47255938_47741306 | 47685513 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02015.hp2 HG02056.hp2 others(10): Show |
a0001a0009a0010 | a0001c0001a0009c0012a0010c0010 | a0001c0001t0001a0009c0012t0001a0010c0010t0001 | a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0080 others(10): Show |
13 | 216 | 0.0602 | 8 | c.168 others(29): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 11/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPIDR_chr8_47255938_47741306 | 47685517 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01099.hp2 HG02083.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 others(4): Show |
7 | 216 | 0.0324 | 8 | c.168 others(29): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 11/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPIDR_chr8_47255938_47741306 | 47688016 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00423.hp2 others(65): Show |
a0001a0010 | a0001c0001a0010c0010 | a0001c0001t0001a0001c0001t0002a0010c0010t0001 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(65): Show |
68 | 216 | 0.3148 | 8 | c.168 others(29): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 11/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPIDR_chr8_47255938_47741306 | 47740915 | C | CAAAAAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG00733.hp1 HG01243.hp1 HG02071.hp2 others(17): Show |
a0001a0003 | a0001c0001a0001c0011a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0069 a0001c0001t0002g0029 a0001c0001t0002g0036 others(17): Show |
20 | 216 | 0.0926 | 8 | c.*54 others(19): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 4610 | chr8 | TogoVar | |||||||
SPIN1_chr9_88383444_88483694 | 88408981 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01255.hp2 HG01496.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0002g0006 others(19): Show |
22 | 176 | 0.1250 | 8 | c.-15 others(29): Show |
SPIN1 | ENSG00000106723.17 | transcript | ENST00000375859.4 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPIN1_chr9_88383444_88483694 | 88410162 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00639.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0153 others(18): Show |
21 | 176 | 0.1193 | 8 | c.-15 others(29): Show |
SPIN1 | ENSG00000106723.17 | transcript | ENST00000375859.4 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPIN1_chr9_88383444_88483694 | 88473643 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01255.hp2 HG02109.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0013 others(13): Show |
16 | 176 | 0.0909 | 8 | c.590 others(25): Show |
SPIN1 | ENSG00000106723.17 | transcript | ENST00000375859.4 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPIN4_chrX_63342228_63356332 | 63356012 | C | CAAAAAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0000 | 1 | 298 | 0.0034 | 8 | c.-51 others(19): Show |
SPIN4 | ENSG00000186767.7 | transcript | ENST00000374884.3 | protein_coding | 4681 | chrX | TogoVar | |||||||
SPINDOC_chr11_63808456_63832716 | 63820889 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00558.hp2 others(113): Show |
a0001a0003a0007others(1): Show | a0001c0001a0001c0002a0001c0009others(3): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(7): Show | a0001c0001t0002g0001 a0001c0001t0002g0045 a0001c0001t0002g0046 others(52): Show |
116 | 392 | 0.2959 | 8 | c.934 others(25): Show |
SPINDOC | ENSG00000168005.9 | transcript | ENST00000294244.9 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SPINDOC_chr11_63808456_63832716 | 63832007 | C | CTTTTTTT others(1): Show |
downstream_gene_variant | MODIFIER | HG01074.hp2 NA18959.hp2 NA18967.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0005 a0001c0002t0002g0001 a0001c0002t0002g0003 others(5): Show |
8 | 392 | 0.0204 | 8 | c.*48 others(19): Show |
SPINDOC | ENSG00000168005.9 | transcript | ENST00000294244.9 | protein_coding | 4292 | chr11 | TogoVar | |||||||
SPINK13_chr5_148263794_148291255 | 148267272 | C | CTTTTTTT others(1): Show |
upstream_gene_variant | MODIFIER | HG01243.hp2 HG02055.hp2 HG02109.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0050 others(3): Show |
9 | 376 | 0.0239 | 8 | c.-16 others(19): Show |
SPINK13 | ENSG00000214510.10 | transcript | ENST00000398450.5 | protein_coding | 1521 | chr5 | TogoVar | |||||||
SPINK1_chr5_147819582_147836671 | 147836296 | T | TTGTGTGT others(1): Show |
upstream_gene_variant | MODIFIER | HG00673.hp1 HG02630.hp1 HG03942.hp2 others(8): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0004 | a0001c0001t0002a0001c0003t0003a0003c0004t0001 | a0001c0001t0002g0004 a0001c0003t0003g0007 a0003c0004t0001g0009 |
11 | 426 | 0.0258 | 8 | c.-47 others(19): Show |
SPINK1 | ENSG00000164266.11 | transcript | ENST00000296695.10 | protein_coding | 4626 | chr5 | TogoVar | |||||||
SPINK2_chr4_56804861_56826701 | 56812563 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02056.hp2 HG02071.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007 a0001c0001t0002g0216 a0001c0001t0002g0224 others(7): Show |
18 | 428 | 0.0421 | 8 | c.250 others(23): Show |
SPINK2 | ENSG00000128040.13 | transcript | ENST00000506738.6 | protein_coding | 2/3 | chr4 | TogoVar | |||||||
SPINK2_chr4_56804861_56826701 | 56815762 | T | TCACACAC others(1): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00609.hp2 others(45): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0038 others(30): Show |
48 | 428 | 0.1122 | 8 | c.250 others(25): Show |
SPINK2 | ENSG00000128040.13 | transcript | ENST00000506738.6 | protein_coding | 2/3 | chr4 | TogoVar | |||||||
SPINK4_chr9_33235167_33253567 | 33237858 | T | TTGTGTGT others(1): Show |
upstream_gene_variant | MODIFIER | HG01243.hp2 HG02257.hp1 HG02647.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0001 a0002c0002t0002g0016 a0002c0002t0002g0025 others(1): Show |
7 | 378 | 0.0185 | 8 | c.-23 others(19): Show |
SPINK4 | ENSG00000122711.9 | transcript | ENST00000379721.4 | protein_coding | 2308 | chr9 | TogoVar | |||||||
SPINK4_chr9_33235167_33253567 | 33238025 | T | TTTTATTT others(1): Show |
upstream_gene_variant | MODIFIER | HG01243.hp2 HG02055.hp1 HG02109.hp2 others(23): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0064 others(12): Show |
26 | 378 | 0.0688 | 8 | c.-21 others(19): Show |
SPINK4 | ENSG00000122711.9 | transcript | ENST00000379721.4 | protein_coding | 2141 | chr9 | TogoVar | |||||||
SPINK5_chr5_148058980_148142382 | 148062327 | A | ATGTGTGT others(1): Show |
upstream_gene_variant | MODIFIER | HG01496.hp2 HG02258.hp1 HG02572.hp2 others(3): Show |
a0008a0011 | a0008c0009a0011c0045 | a0008c0009t0002a0011c0045t0002 | a0008c0009t0002g0206 a0008c0009t0002g0308 a0008c0009t0002g0309 others(3): Show |
6 | 384 | 0.0156 | 8 | c.-17 others(19): Show |
SPINK5 | ENSG00000133710.17 | transcript | ENST00000256084.8 | protein_coding | 1652 | chr5 | TogoVar | |||||||
SPINK5_chr5_148058980_148142382 | 148077637 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01496.hp2 HG02559.hp1 others(5): Show |
a0002a0006a0008 | a0002c0002a0006c0012a0008c0009 | a0002c0002t0003a0006c0012t0007a0008c0009t0002 | a0002c0002t0003g0162 a0006c0012t0007g0004 a0008c0009t0002g0308 others(3): Show |
8 | 384 | 0.0208 | 8 | c.282 others(25): Show |
SPINK5 | ENSG00000133710.17 | transcript | ENST00000256084.8 | protein_coding | 4/32 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPINK5_chr5_148058980_148142382 | 148123441 | C | CTATATAT others(1): Show |
intron_variant | MODIFIER | HG01069.hp1 HG02559.hp1 HG03209.hp1 others(2): Show |
a0006a0014 | a0006c0012a0014c0023 | a0006c0012t0007a0014c0023t0001 | a0006c0012t0007g0004 a0014c0023t0001g0283 a0014c0023t0001g0300 |
5 | 384 | 0.0130 | 8 | c.253 others(25): Show |
SPINK5 | ENSG00000133710.17 | transcript | ENST00000256084.8 | protein_coding | 26/32 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPINK5_chr5_148058980_148142382 | 148123445 | C | CTATATAT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(139): Show |
a0001a0007a0010others(5): Show | a0001c0001a0001c0024a0001c0043others(8): Show | a0001c0001t0001a0001c0024t0001a0001c0043t0001others(9): Show | a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0023 others(127): Show |
142 | 384 | 0.3698 | 8 | c.253 others(25): Show |
SPINK5 | ENSG00000133710.17 | transcript | ENST00000256084.8 | protein_coding | 26/32 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPINK5_chr5_148058980_148142382 | 148123511 | C | CCATATAT others(1): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02897.hp2 HG02922.hp1 others(3): Show |
a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0009 a0005c0005t0002g0328 a0005c0005t0002g0336 others(1): Show |
6 | 384 | 0.0156 | 8 | c.253 others(25): Show |
SPINK5 | ENSG00000133710.17 | transcript | ENST00000256084.8 | protein_coding | 26/32 | chr5 | TogoVar | |||||||
SPINK5_chr5_148058980_148142382 | 148126571 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02109.hp1 HG03471.hp1 |
a0006a0021 | a0006c0006a0021c0038 | a0006c0006t0002a0021c0038t0002 | a0006c0006t0002g0090 a0006c0006t0002g0091 a0021c0038t0002g0120 |
3 | 384 | 0.0078 | 8 | c.286 others(25): Show |
SPINK5 | ENSG00000133710.17 | transcript | ENST00000256084.8 | protein_coding | 29/32 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPINK6_chr5_148198042_148220137 | 148207021 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02071.hp2 HG02723.hp2 HG02895.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0172 a0002c0002t0001g0031 a0002c0002t0001g0068 others(1): Show |
5 | 438 | 0.0114 | 8 | c.81+ others(21): Show |
SPINK6 | ENSG00000178172.7 | transcript | ENST00000325630.3 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPINK6_chr5_148198042_148220137 | 148209997 | C | CGTACGTA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(239): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(90): Show |
242 | 438 | 0.5525 | 8 | c.82- others(23): Show |
SPINK6 | ENSG00000178172.7 | transcript | ENST00000325630.3 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPINK6_chr5_148198042_148220137 | 148209997 | C | CGTACGTG others(1): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01106.hp2 HG02559.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 a0001c0001t0001g0096 a0001c0001t0001g0097 others(1): Show |
5 | 438 | 0.0114 | 8 | c.82- others(23): Show |
SPINK6 | ENSG00000178172.7 | transcript | ENST00000325630.3 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPINK6_chr5_148198042_148220137 | 148210218 | A | ATATATAT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(79): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0022 others(40): Show |
82 | 438 | 0.1872 | 8 | c.82- others(23): Show |
SPINK6 | ENSG00000178172.7 | transcript | ENST00000325630.3 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPINT1_chr15_40839048_40863207 | 40852627 | C | CTGTCTGT others(1): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02615.hp1 HG02886.hp1 others(6): Show |
a0001a0006 | a0001c0001a0006c0011a0006c0012 | a0001c0001t0016a0006c0011t0003a0006c0012t0011 | a0001c0001t0016g0143 a0001c0001t0016g0148 a0006c0011t0003g0024 others(2): Show |
9 | 358 | 0.0251 | 8 | c.476 others(23): Show |
SPINT1 | ENSG00000166145.15 | transcript | ENST00000562057.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SPINT2_chr19_38259573_38297615 | 38259613 | T | TTATATAT others(1): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG01943.hp2 HG02155.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0260 a0001c0001t0002g0269 a0001c0001t0002g0273 others(2): Show |
5 | 400 | 0.0125 | 8 | c.-52 others(19): Show |
SPINT2 | ENSG00000167642.13 | transcript | ENST00000301244.12 | protein_coding | 4959 | chr19 | TogoVar | |||||||
SPINT2_chr19_38259573_38297615 | 38262200 | C | CTTTTTTT others(1): Show |
upstream_gene_variant | MODIFIER | HG01099.hp2 HG01891.hp1 HG02056.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0032 a0001c0001t0001g0155 others(10): Show |
13 | 400 | 0.0325 | 8 | c.-26 others(19): Show |
SPINT2 | ENSG00000167642.13 | transcript | ENST00000301244.12 | protein_coding | 2372 | chr19 | TogoVar | |||||||
SPINT3_chr20_45507461_45520622 | 45508699 | C | CCTTTCTT others(1): Show |
downstream_gene_variant | MODIFIER | HG00642.hp1 HG01070.hp1 HG01071.hp1 others(7): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0007 | 10 | 454 | 0.0220 | 8 | c.*39 others(19): Show |
SPINT3 | ENSG00000101446.8 | transcript | ENST00000217428.7 | protein_coding | 3761 | chr20 | TogoVar | |||||||
SPINT4_chr20_45717347_45730830 | 45724995 | A | AAAAAATA others(1): Show |
intron_variant | MODIFIER | HG01167.hp1 HG02145.hp1 HG02965.hp2 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0023 a0002c0002t0001g0046 a0002c0002t0001g0073 |
7 | 458 | 0.0153 | 8 | c.294 others(23): Show |
SPINT4 | ENSG00000149651.4 | transcript | ENST00000279058.4 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SPIRE1_chr18_12441512_12663107 | 12461440 | A | ATATGTAC others(1): Show |
intron_variant | MODIFIER | HG01978.hp1 HG02615.hp2 NA21309.hp2 |
a0001a0003 | a0001c0001a0003c0010 | a0001c0001t0001a0001c0001t0028a0003c0010t0029 | a0001c0001t0001g0137 a0001c0001t0028g0081 a0003c0010t0029g0136 |
3 | 328 | 0.0092 | 8 | c.163 others(27): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 12/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12526056 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02895.hp1 HG02895.hp2 others(2): Show |
a0001a0005 | a0001c0001a0005c0011 | a0001c0001t0001a0001c0001t0003a0005c0011t0017 | a0001c0001t0001g0183 a0001c0001t0003g0270 a0001c0001t0003g0271 others(2): Show |
5 | 328 | 0.0152 | 8 | c.729 others(25): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 4/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12533932 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02071.hp2 HG02622.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0018 | a0001c0001t0001g0114 a0001c0001t0001g0158 a0001c0001t0001g0254 others(5): Show |
8 | 328 | 0.0244 | 8 | c.729 others(25): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 4/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12547920 | A | AAAACAAA others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG00735.hp1 others(22): Show |
a0001a0006 | a0001c0001a0006c0012 | a0001c0001t0001a0001c0001t0006a0001c0001t0014others(3): Show | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 others(22): Show |
25 | 328 | 0.0762 | 8 | c.373 others(25): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 2/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12597157 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00642.hp2 HG01261.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0023others(1): Show | a0001c0001t0001g0234 a0001c0001t0001g0249 a0001c0001t0002g0090 others(10): Show |
13 | 328 | 0.0396 | 8 | c.372 others(27): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 2/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12607596 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02809.hp1 HG03098.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 a0001c0001t0001g0036 a0001c0001t0001g0084 others(2): Show |
5 | 328 | 0.0152 | 8 | c.372 others(27): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 2/16 | chr18 | TogoVar | |||||||
SPIRE2_chr16_89823475_89876319 | 89875820 | C | CTTTTTTT others(1): Show |
downstream_gene_variant | MODIFIER | HG02280.hp2 HG02559.hp1 HG02572.hp2 others(4): Show |
a0001 | a0001c0001a0001c0008a0001c0011 | a0001c0001t0001a0001c0001t0003a0001c0008t0001others(1): Show | a0001c0001t0001g0166 a0001c0001t0003g0330 a0001c0001t0003g0339 others(4): Show |
7 | 356 | 0.0197 | 8 | c.*55 others(19): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 4502 | chr16 | TogoVar | |||||||
SPNS1_chr16_28969778_28989543 | 28987703 | T | TTTCATTC others(1): Show |
downstream_gene_variant | MODIFIER | HG02809.hp1 HG02886.hp1 HG02922.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 a0001c0001t0001g0071 |
3 | 398 | 0.0075 | 8 | c.*34 others(19): Show |
SPNS1 | ENSG00000169682.18 | transcript | ENST00000311008.16 | protein_coding | 3161 | chr16 | TogoVar | |||||||
SPNS3_chr17_4428940_4493204 | 4458586 | C | CTCCTTCC others(1): Show |
intron_variant | MODIFIER | HG02717.hp2 HG02886.hp1 HG02922.hp2 |
a0001 | a0001c0001a0001c0003a0001c0006 | a0001c0001t0002a0001c0003t0001a0001c0006t0002 | a0001c0001t0002g0326 a0001c0003t0001g0320 a0001c0006t0002g0052 |
3 | 362 | 0.0083 | 8 | c.111 others(27): Show |
SPNS3 | ENSG00000182557.8 | transcript | ENST00000355530.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPNS3_chr17_4428940_4493204 | 4458588 | C | CCTTCCTT others(1): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00621.hp1 HG01069.hp1 others(24): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(7): Show | a0001c0001t0001g0156 a0001c0001t0001g0168 a0001c0001t0001g0183 others(24): Show |
27 | 362 | 0.0746 | 8 | c.111 others(27): Show |
SPNS3 | ENSG00000182557.8 | transcript | ENST00000355530.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |