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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPHKAP_chr2_227974955_228186687 | 228096630 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG01070.hp2 HG01071.hp1 others(15): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0006others(2): Show | a0001c0001t0002a0002c0002t0001a0003c0006t0001others(2): Show | a0001c0001t0002g0058 a0001c0001t0002g0143 a0001c0001t0002g0146 others(15): Show |
18 | 322 | 0.0559 | -8 | c.246 others(27): Show |
SPHKAP | ENSG00000153820.13 | transcript | ENST00000392056.8 | protein_coding | 3/11 | chr2 | TogoVar | |||||||
SPHKAP_chr2_227974955_228186687 | 228113603 | ATCTCTCT others(1): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp1 HG02559.hp1 others(6): Show |
a0001a0003a0005others(1): Show | a0001c0001a0003c0005a0003c0006others(2): Show | a0001c0001t0002a0003c0005t0001a0003c0006t0001others(2): Show | a0001c0001t0002g0126 a0003c0005t0001g0083 a0003c0005t0001g0127 others(6): Show |
9 | 322 | 0.0280 | -8 | c.139 others(25): Show |
SPHKAP | ENSG00000153820.13 | transcript | ENST00000392056.8 | protein_coding | 2/11 | chr2 | TogoVar | |||||||
SPHKAP_chr2_227974955_228186687 | 228118240 | GTTTTTTT others(1): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00558.hp2 others(115): Show |
a0001a0002a0003others(10): Show | a0001c0001a0002c0002a0003c0005others(13): Show | a0001c0001t0002a0001c0001t0011a0002c0002t0001others(21): Show | a0001c0001t0002g0006 a0001c0001t0002g0019 a0001c0001t0002g0035 others(115): Show |
118 | 322 | 0.3665 | -8 | c.139 others(25): Show |
SPHKAP | ENSG00000153820.13 | transcript | ENST00000392056.8 | protein_coding | 2/11 | chr2 | TogoVar | |||||||
SPHKAP_chr2_227974955_228186687 | 228134234 | GAGGAAGG others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG00639.hp2 others(57): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0003c0005others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(15): Show | a0001c0001t0001g0093 a0001c0001t0002g0053 a0001c0001t0002g0063 others(57): Show |
60 | 322 | 0.1863 | -8 | c.33- others(23): Show |
SPHKAP | ENSG00000153820.13 | transcript | ENST00000392056.8 | protein_coding | 1/11 | chr2 | TogoVar | |||||||
SPHKAP_chr2_227974955_228186687 | 228154532 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG02109.hp2 HG02622.hp1 others(7): Show |
a0001a0003 | a0001c0001a0003c0005a0003c0006 | a0001c0001t0002a0001c0001t0011a0003c0005t0001others(2): Show | a0001c0001t0002g0085 a0001c0001t0002g0120 a0001c0001t0011g0084 others(7): Show |
10 | 322 | 0.0311 | -8 | c.33- others(25): Show |
SPHKAP | ENSG00000153820.13 | transcript | ENST00000392056.8 | protein_coding | 1/11 | chr2 | TogoVar | |||||||
SPICE1_chr3_113437718_113520156 | 113497682 | TAGAGAGA others(1): Show |
T | intron_variant | MODIFIER | HG00621.hp1 HG00639.hp2 HG00738.hp2 others(77): Show |
a0001a0005a0006others(1): Show | a0001c0002a0001c0004a0001c0012others(3): Show | a0001c0002t0003a0001c0002t0007a0001c0002t0014others(6): Show | a0001c0002t0003g0007 a0001c0002t0003g0245 a0001c0002t0003g0246 others(76): Show |
80 | 364 | 0.2198 | -8 | c.291 others(25): Show |
SPICE1 | ENSG00000163611.11 | transcript | ENST00000295872.8 | protein_coding | 4/17 | chr3 | TogoVar | |||||||
SPIC_chr12_101470336_101491997 | 101479172 | AAAAGAAA others(1): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00639.hp1 HG01071.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0025 a0001c0001t0001g0061 others(12): Show |
21 | 398 | 0.0528 | -8 | c.98- others(21): Show |
SPIC | ENSG00000166211.8 | transcript | ENST00000551346.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SPIC_chr12_101470336_101491997 | 101479307 | AAAAGAAA others(1): Show |
A | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01074.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 a0001c0001t0001g0046 a0001c0001t0001g0049 others(4): Show |
11 | 398 | 0.0276 | -8 | c.98- others(21): Show |
SPIC | ENSG00000166211.8 | transcript | ENST00000551346.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SPIDR_chr8_47255938_47741306 | 47331989 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG02257.hp2 HG02258.hp1 others(3): Show |
a0002a0008 | a0002c0002a0008c0008 | a0002c0002t0002a0002c0002t0005a0008c0008t0002 | a0002c0002t0002g0017 a0002c0002t0002g0018 a0002c0002t0002g0020 others(3): Show |
6 | 216 | 0.0278 | -8 | c.525 others(27): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPIDR_chr8_47255938_47741306 | 47464113 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG02257.hp1 HG02280.hp1 HG02602.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0002c0002t0002 | a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 others(3): Show |
6 | 216 | 0.0278 | -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 | 47496810 | ATGTTTGT others(1): Show |
A | intron_variant | MODIFIER | HG01192.hp2 HG02280.hp1 HG02895.hp1 others(6): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(1): Show | a0001c0001t0001g0010 a0001c0001t0001g0190 a0002c0002t0001g0062 others(6): Show |
9 | 216 | 0.0417 | -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 | 47545071 | TTTTCTTT others(1): Show |
T | intron_variant | MODIFIER | HG02056.hp2 HG02071.hp1 HG02109.hp1 others(38): Show |
a0001a0002 | a0001c0001a0001c0011a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0079 a0001c0001t0001g0092 a0001c0001t0001g0104 others(38): Show |
41 | 216 | 0.1898 | -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 | 47572673 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG00733.hp1 HG01106.hp2 HG02145.hp2 others(14): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0002a0001c0011t0002 | a0001c0001t0002g0125 a0001c0001t0002g0128 a0001c0001t0002g0129 others(14): Show |
17 | 216 | 0.0787 | -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 | 47582827 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG01192.hp2 HG02280.hp1 HG02895.hp1 others(5): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(1): Show | a0001c0001t0001g0174 a0001c0001t0002g0047 a0002c0002t0002g0124 others(5): Show |
8 | 216 | 0.0370 | -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 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG00673.hp1 HG00733.hp1 HG01106.hp2 others(24): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0074 a0001c0001t0001g0087 a0001c0001t0001g0088 others(24): Show |
27 | 216 | 0.1250 | -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 | 47591426 | CTATTTAT others(1): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00673.hp2 others(63): Show |
a0001a0005 | a0001c0001a0001c0011a0005c0006 | a0001c0001t0001a0001c0001t0002a0001c0011t0002others(1): Show | a0001c0001t0001g0051 a0001c0001t0001g0162 a0001c0001t0002g0023 others(63): Show |
66 | 216 | 0.3056 | -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 | AAGAGAGA others(1): Show |
A | intron_variant | MODIFIER | HG00733.hp1 HG03239.hp1 HG04204.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0128 a0001c0001t0002g0135 a0001c0001t0002g0137 others(1): Show |
4 | 216 | 0.0185 | -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 | 47698222 | GTTTGTTG others(1): Show |
G | intron_variant | MODIFIER | HG01928.hp2 HG01943.hp2 HG01993.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 |
3 | 216 | 0.0139 | -8 | c.168 others(27): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 11/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPIDR_chr8_47255938_47741306 | 47702090 | CTCTCTCT others(1): Show |
C | intron_variant | MODIFIER | HG03516.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0204 a0001c0001t0002g0142 |
2 | 216 | 0.0093 | -8 | c.197 others(23): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 14/19 | chr8 | TogoVar | |||||||
SPIDR_chr8_47255938_47741306 | 47702091 | TCTCTCTT others(1): Show |
T | intron_variant | MODIFIER | HG02572.hp2 HG02895.hp1 HG02976.hp2 others(4): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0003c0003t0002 | a0001c0001t0002g0053 a0001c0001t0002g0131 a0001c0001t0002g0132 others(4): Show |
7 | 216 | 0.0324 | -8 | c.197 others(23): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 14/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPIN1_chr9_88383444_88483694 | 88405997 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp1 HG01255.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0012others(2): Show | a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0156 others(14): Show |
17 | 176 | 0.0966 | -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 | 88406005 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG01192.hp1 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 a0001c0001t0001g0138 |
2 | 176 | 0.0114 | -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 | 88467040 | ATTGTTTG others(1): Show |
A | intron_variant | MODIFIER | HG02559.hp2 HG02572.hp2 HG02723.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0043 a0001c0001t0008g0044 a0001c0001t0008g0045 others(1): Show |
4 | 176 | 0.0227 | -8 | c.356 others(25): Show |
SPIN1 | ENSG00000106723.17 | transcript | ENST00000375859.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPIN3_chrX_56985831_57000541 | 56997277 | CTTTTTTT others(1): Show |
C | upstream_gene_variant | MODIFIER | HG02055.hp1 HG02970.hp2 HG03453.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0003 | a0001c0001t0003g0003 a0001c0002t0003g0008 |
3 | 318 | 0.0094 | -8 | c.-20 others(19): Show |
SPIN3 | ENSG00000204271.13 | transcript | ENST00000374919.6 | protein_coding | 1737 | chrX | TogoVar | |||||||
SPIN4_chrX_63342228_63356332 | 63356012 | CAAAAAAA others(1): Show |
C | upstream_gene_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 298 | 0.0034 | -8 | c.-52 others(19): Show |
SPIN4 | ENSG00000186767.7 | transcript | ENST00000374884.3 | protein_coding | 4681 | chrX | TogoVar | |||||||
SPINDOC_chr11_63808456_63832716 | 63828078 | AGCTTGCT others(1): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(375): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0004others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 others(204): Show |
378 | 392 | 0.9643 | -8 | c.*94 others(17): Show |
SPINDOC | ENSG00000168005.9 | transcript | ENST00000294244.9 | protein_coding | 363 | chr11 | TogoVar | |||||||
SPINK1_chr5_147819582_147836671 | 147825430 | CTTTTCTT others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0023 a0001c0001t0001g0043 others(2): Show |
37 | 426 | 0.0869 | -8 | c.195 others(23): Show |
SPINK1 | ENSG00000164266.11 | transcript | ENST00000296695.10 | protein_coding | 3/3 | chr5 | TogoVar | |||||||
SPINK1_chr5_147819582_147836671 | 147836296 | TTGTGTGT others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00621.hp1 others(54): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0024 a0001c0001t0001g0028 others(5): Show |
57 | 426 | 0.1338 | -8 | c.-47 others(19): Show |
SPINK1 | ENSG00000164266.11 | transcript | ENST00000296695.10 | protein_coding | 4626 | chr5 | TogoVar | |||||||
SPINK2_chr4_56804861_56826701 | 56805163 | CAAAAAAA others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00423.hp1 others(159): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0009 others(98): Show |
162 | 428 | 0.3785 | -8 | c.*49 others(19): Show |
SPINK2 | ENSG00000128040.13 | transcript | ENST00000506738.6 | protein_coding | 4697 | chr4 | TogoVar | |||||||
SPINK2_chr4_56804861_56826701 | 56815762 | TCACACAC others(1): Show |
T | intron_variant | MODIFIER | NA18941.hp2 NA18971.hp1 NA19000.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0125 a0001c0001t0002g0052 a0001c0001t0002g0243 others(1): Show |
5 | 428 | 0.0117 | -8 | c.250 others(25): Show |
SPINK2 | ENSG00000128040.13 | transcript | ENST00000506738.6 | protein_coding | 2/3 | chr4 | TogoVar | |||||||
SPINK5_chr5_148058980_148142382 | 148059640 | CAAAAAAA others(1): Show |
C | upstream_gene_variant | MODIFIER | HG02109.hp2 HG02280.hp2 HG02723.hp1 others(7): Show |
a0007a0009a0011 | a0007c0008a0009c0010a0011c0019 | a0007c0008t0005a0009c0010t0004a0011c0019t0004 | a0007c0008t0005g0138 a0007c0008t0005g0139 a0007c0008t0005g0140 others(7): Show |
10 | 384 | 0.0260 | -8 | c.-44 others(19): Show |
SPINK5 | ENSG00000133710.17 | transcript | ENST00000256084.8 | protein_coding | 4339 | chr5 | TogoVar | |||||||
SPINK5_chr5_148058980_148142382 | 148059887 | GAAAATAA others(1): Show |
G | upstream_gene_variant | MODIFIER | HG01243.hp1 HG02717.hp2 HG02886.hp2 others(5): Show |
a0006a0007a0008 | a0006c0006a0007c0008a0008c0009 | a0006c0006t0002a0007c0008t0006a0008c0009t0009 | a0006c0006t0002g0012 a0006c0006t0002g0030 a0006c0006t0002g0077 others(4): Show |
8 | 384 | 0.0208 | -8 | c.-41 others(19): Show |
SPINK5 | ENSG00000133710.17 | transcript | ENST00000256084.8 | protein_coding | 4092 | chr5 | TogoVar | |||||||
SPINK5_chr5_148058980_148142382 | 148062355 | GTGTGTGT others(1): Show |
G | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00738.hp1 others(40): Show |
a0004a0013a0023others(4): Show | a0004c0004a0013c0016a0023c0030others(4): Show | a0004c0004t0002a0013c0016t0002a0023c0030t0001others(4): Show | a0004c0004t0002g0005 a0004c0004t0002g0010 a0004c0004t0002g0035 others(37): Show |
43 | 384 | 0.1120 | -8 | c.-16 others(19): Show |
SPINK5 | ENSG00000133710.17 | transcript | ENST00000256084.8 | protein_coding | 1624 | chr5 | TogoVar | |||||||
SPINK5_chr5_148058980_148142382 | 148068574 | AAAAAAAA others(1): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00738.hp1 others(42): Show |
a0004a0006a0013others(5): Show | a0004c0004a0006c0006a0013c0016others(5): Show | a0004c0004t0002a0006c0006t0002a0013c0016t0002others(5): Show | a0004c0004t0002g0005 a0004c0004t0002g0010 a0004c0004t0002g0037 others(39): Show |
45 | 384 | 0.1172 | -8 | c.82- others(23): Show |
SPINK5 | ENSG00000133710.17 | transcript | ENST00000256084.8 | protein_coding | 2/32 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPINK5_chr5_148058980_148142382 | 148073814 | TCACACAC others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG01243.hp1 HG02717.hp2 others(8): Show |
a0001a0002a0006others(2): Show | a0001c0001a0002c0002a0002c0007others(3): Show | a0001c0001t0001a0002c0002t0003a0002c0007t0003others(3): Show | a0001c0001t0001g0247 a0002c0002t0003g0161 a0002c0007t0003g0318 others(7): Show |
11 | 384 | 0.0287 | -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 | 148123511 | CAATATAT others(1): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG00597.hp1 HG00673.hp1 others(41): Show |
a0002a0028 | a0002c0002a0002c0007a0028c0029 | a0002c0002t0003a0002c0007t0003a0028c0029t0003 | a0002c0002t0003g0007 a0002c0002t0003g0017 a0002c0002t0003g0021 others(36): Show |
44 | 384 | 0.1146 | -8 | c.253 others(25): Show |
SPINK5 | ENSG00000133710.17 | transcript | ENST00000256084.8 | protein_coding | 26/32 | chr5 | TogoVar | |||||||
SPINK5_chr5_148058980_148142382 | 148126571 | TTTTATTT others(1): Show |
T | intron_variant | MODIFIER | HG00558.hp2 HG00597.hp1 HG00621.hp1 others(94): Show |
a0002a0003a0005others(8): Show | a0002c0002a0002c0007a0003c0018others(9): Show | a0002c0002t0003a0002c0007t0003a0003c0018t0002others(9): Show | a0002c0002t0003g0007 a0002c0002t0003g0017 a0002c0002t0003g0018 others(84): Show |
97 | 384 | 0.2526 | -8 | c.286 others(25): Show |
SPINK5 | ENSG00000133710.17 | transcript | ENST00000256084.8 | protein_coding | 29/32 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPINK7_chr5_148307423_148320919 | 148312205 | TTAGAATT others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00544.hp1 others(86): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0002a0001c0001t0003a0003c0004t0006 | a0001c0001t0002g0002 a0001c0001t0002g0010 a0001c0001t0002g0013 others(3): Show |
89 | 448 | 0.1987 | -8 | c.-27 others(17): Show |
SPINK7 | ENSG00000145879.11 | transcript | ENST00000274565.5 | protein_coding | 217 | chr5 | TogoVar | |||||||
SPINT1_chr15_40839048_40863207 | 40845318 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG02723.hp1 HG02818.hp1 HG03130.hp1 others(3): Show |
a0001a0005 | a0001c0004a0005c0008 | a0001c0004t0004a0005c0008t0004 | a0001c0004t0004g0015 a0001c0004t0004g0028 a0005c0008t0004g0015 |
6 | 358 | 0.0168 | -8 | c.475 others(23): Show |
SPINT1 | ENSG00000166145.15 | transcript | ENST00000562057.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SPINT1_chr15_40839048_40863207 | 40852627 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00597.hp2 others(24): Show |
a0001a0002 | a0001c0002a0001c0004a0001c0006others(1): Show | a0001c0002t0029a0001c0004t0031a0001c0006t0010others(4): Show | a0001c0002t0029g0099 a0001c0004t0031g0118 a0001c0006t0010g0041 others(10): Show |
27 | 358 | 0.0754 | -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 | 38283833 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00438.hp1 others(82): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(65): Show |
85 | 400 | 0.2125 | -8 | c.277 others(21): Show |
SPINT2 | ENSG00000167642.13 | transcript | ENST00000301244.12 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPIRE1_chr18_12441512_12663107 | 12513489 | CTTTATTT others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00423.hp1 others(153): Show |
a0001a0003a0007others(1): Show | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0013 a0001c0001t0001g0021 a0001c0001t0001g0022 others(153): Show |
156 | 328 | 0.4756 | -8 | c.730 others(23): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 4/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12597157 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG01192.hp1 HG01257.hp2 HG01358.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0025others(1): Show | a0001c0001t0001g0013 a0001c0001t0001g0149 a0001c0001t0001g0150 others(15): Show |
18 | 328 | 0.0549 | -8 | c.372 others(27): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 2/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12607596 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG03209.hp1 NA18950.hp2 NA19091.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0002g0085 |
3 | 328 | 0.0092 | -8 | c.372 others(27): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 2/16 | chr18 | TogoVar | |||||||
SPNS2_chr17_4493881_4544035 | 4499725 | CCTCTGCG others(1): Show |
C | intron_variant | MODIFIER | HG02486.hp1 HG02622.hp2 HG02886.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0031a0001c0001t0033others(2): Show | a0001c0001t0006g0027 a0001c0001t0006g0031 a0001c0001t0006g0032 others(4): Show |
7 | 404 | 0.0173 | -8 | c.370 others(23): Show |
SPNS2 | ENSG00000183018.9 | transcript | ENST00000329078.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPNS2_chr17_4493881_4544035 | 4532156 | GTCTGTCC others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(166): Show |
a0001a0002a0004 | a0001c0001a0001c0005a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(149): Show |
169 | 404 | 0.4183 | -8 | c.793 others(23): Show |
SPNS2 | ENSG00000183018.9 | transcript | ENST00000329078.8 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPNS3_chr17_4428940_4493204 | 4458578 | TTCCTTCC others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG01943.hp2 HG01978.hp2 others(7): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0010a0001c0013others(5): Show | a0001c0001t0002a0001c0010t0002a0001c0013t0001others(5): Show | a0001c0001t0002g0145 a0001c0010t0002g0087 a0001c0010t0002g0088 others(7): Show |
10 | 362 | 0.0276 | -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 | CCTTTCTT others(1): Show |
C | intron_variant | MODIFIER | HG02572.hp2 HG02615.hp2 HG02896.hp2 others(11): Show |
a0001a0002a0007 | a0001c0001a0001c0003a0001c0007others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(7): Show | a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0240 others(11): Show |
14 | 362 | 0.0387 | -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 | 4462754 | AATCCATC others(1): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG01167.hp2 HG01891.hp1 others(12): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0001c0006others(5): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(6): Show | a0001c0001t0001g0032 a0001c0001t0001g0131 a0001c0001t0001g0132 others(12): Show |
15 | 362 | 0.0414 | -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 | 4472774 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00642.hp1 HG00741.hp2 others(60): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(19): Show | a0001c0001t0001g0001 a0001c0001t0001g0032 a0001c0001t0001g0044 others(59): Show |
63 | 362 | 0.1740 | -8 | c.111 others(27): Show |
SPNS3 | ENSG00000182557.8 | transcript | ENST00000355530.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |