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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPDYE10_chr7_73099008_73160431 | 73137593 | TGAAAGAA others(1): Show |
T | intron_variant | MODIFIER | HG00621.hp2 HG01346.hp2 HG02071.hp1 others(16): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0002g0019 a0001c0001t0002g0040 a0001c0001t0002g0182 others(16): Show |
19 | 216 | 0.0880 | -8 | c.-64 others(29): Show |
SPDYE10 | ENSG00000274570.6 | transcript | ENST00000691996.1 | protein_coding | 1/8 | chr7 | TogoVar | |||||||
SPDYE10_chr7_73099008_73160431 | 73141070 | CCACACAC others(1): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00735.hp2 HG01256.hp1 others(18): Show |
a0001a0002a0009 | a0001c0002a0001c0006a0002c0003others(2): Show | a0001c0002t0001a0001c0006t0001a0001c0006t0005others(4): Show | a0001c0002t0001g0060 a0001c0002t0001g0066 a0001c0002t0001g0069 others(18): Show |
21 | 216 | 0.0972 | -8 | c.-64 others(29): Show |
SPDYE10 | ENSG00000274570.6 | transcript | ENST00000691996.1 | protein_coding | 1/8 | chr7 | TogoVar | |||||||
SPDYE10_chr7_73099008_73160431 | 73142980 | GAGGAAGG others(1): Show |
G | intron_variant | MODIFIER | HG02572.hp2 HG02698.hp1 HG03130.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0024 | a0001c0001t0002g0012 a0001c0001t0002g0018 a0001c0001t0003g0014 others(2): Show |
5 | 216 | 0.0232 | -8 | c.-64 others(29): Show |
SPDYE10 | ENSG00000274570.6 | transcript | ENST00000691996.1 | protein_coding | 1/8 | chr7 | TogoVar | |||||||
SPDYE10_chr7_73099008_73160431 | 73150946 | ATATTTTT others(1): Show |
A | intron_variant | MODIFIER | HG01981.hp2 HG02602.hp2 HG03710.hp1 |
a0001a0010 | a0001c0002a0001c0006a0010c0010 | a0001c0002t0001a0001c0006t0001a0010c0010t0001 | a0001c0002t0001g0075 a0001c0006t0001g0004 a0010c0010t0001g0074 |
3 | 216 | 0.0139 | -8 | c.-64 others(27): Show |
SPDYE10 | ENSG00000274570.6 | transcript | ENST00000691996.1 | protein_coding | 1/8 | chr7 | TogoVar | |||||||
SPDYE12_chr7_74899289_74920078 | 74907732 | GATAAATA others(1): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02257.hp1 HG02451.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0036 a0001c0001t0006g0076 a0001c0001t0006g0109 others(1): Show |
5 | 350 | 0.0143 | -8 | c.495 others(23): Show |
SPDYE12 | ENSG00000184616.12 | transcript | ENST00000618416.5 | protein_coding | 5/7 | chr7 | TogoVar | |||||||
SPDYE12_chr7_74899289_74920078 | 74918935 | TTGTGTGT others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp2 others(64): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(34): Show |
67 | 350 | 0.1914 | -8 | c.-44 others(19): Show |
SPDYE12 | ENSG00000184616.12 | transcript | ENST00000618416.5 | protein_coding | 3858 | chr7 | TogoVar | |||||||
SPDYE16_chr7_76526313_76548297 | 76543895 | AAAAAAAA others(1): Show |
A | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00597.hp2 HG02630.hp1 others(12): Show |
a0002a0003a0007 | a0002c0002a0003c0003a0007c0007 | a0002c0002t0007a0003c0003t0002a0003c0003t0019others(1): Show | a0002c0002t0007g0051 a0003c0003t0002g0016 a0003c0003t0002g0017 others(12): Show |
15 | 255 | 0.0588 | -8 | c.-11 others(19): Show |
SPDYE16 | ENSG00000185040.14 | transcript | ENST00000633306.2 | protein_coding | 599 | chr7 | TogoVar | |||||||
SPDYE17_chr7_77017306_77037361 | 77025745 | GATAAATA others(1): Show |
G | intron_variant | MODIFIER | HG02615.hp2 HG02809.hp2 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0130 a0001c0001t0012g0131 a0001c0001t0012g0132 |
3 | 295 | 0.0102 | -8 | c.495 others(23): Show |
SPDYE17 | ENSG00000186645.11 | transcript | ENST00000671986.3 | protein_coding | 5/7 | chr7 | TogoVar | |||||||
SPDYE17_chr7_77017306_77037361 | 77028010 | AACAAAAA others(1): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(88): Show |
a0002a0006a0007others(4): Show | a0002c0002a0002c0011a0006c0006others(5): Show | a0002c0002t0002a0002c0002t0004a0002c0002t0014others(7): Show | a0002c0002t0002g0007 a0002c0002t0002g0008 a0002c0002t0002g0009 others(56): Show |
91 | 295 | 0.3085 | -8 | c.408 others(23): Show |
SPDYE17 | ENSG00000186645.11 | transcript | ENST00000671986.3 | protein_coding | 4/7 | chr7 | TogoVar | |||||||
SPDYE18_chr7_77045391_77067558 | 77066304 | CTTTGTTT others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp2 others(171): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(15): Show | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 others(109): Show |
174 | 416 | 0.4183 | -8 | c.-42 others(19): Show |
SPDYE18 | ENSG00000205482.11 | transcript | ENST00000510091.4 | protein_coding | 3747 | chr7 | TogoVar | |||||||
SPDYE21_chr7_67271941_67294005 | 67280691 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG00738.hp2 HG01346.hp2 others(6): Show |
a0003a0015 | a0003c0003a0015c0018 | a0003c0003t0002a0015c0018t0002 | a0003c0003t0002g0020 a0003c0003t0002g0065 a0003c0003t0002g0165 others(2): Show |
9 | 460 | 0.0196 | -8 | c.380 others(23): Show |
SPDYE21 | ENSG00000230358.6 | transcript | ENST00000424157.4 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPDYE21_chr7_67271941_67294005 | 67285381 | AGTTTGTT others(1): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG02486.hp1 HG02630.hp1 others(4): Show |
a0004a0008 | a0004c0004a0008c0009 | a0004c0004t0004a0008c0009t0010 | a0004c0004t0004g0096 a0008c0009t0010g0061 a0008c0009t0010g0062 others(2): Show |
7 | 460 | 0.0152 | -8 | c.756 others(23): Show |
SPDYE21 | ENSG00000230358.6 | transcript | ENST00000424157.4 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPDYE2B_chr7_102645319_102667625 | 102666400 | AGATTGAT others(1): Show |
A | downstream_gene_variant | MODIFIER | HG00597.hp2 HG00733.hp2 HG01168.hp2 others(17): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0003a0003c0004others(2): Show | a0001c0001t0004a0003c0003t0004a0003c0003t0019others(6): Show | a0001c0001t0004g0099 a0003c0003t0004g0003 a0003c0003t0004g0049 others(17): Show |
20 | 128 | 0.1563 | -8 | c.*53 others(19): Show |
SPDYE2B | ENSG00000173678.15 | transcript | ENST00000507450.6 | protein_coding | 3776 | chr7 | TogoVar | |||||||
SPDYE2_chr7_102546226_102568538 | 102547901 | CTTTTTTT others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00741.hp1 HG01070.hp1 HG02056.hp1 others(14): Show |
a0001a0003a0007others(4): Show | a0001c0001a0001c0028a0003c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(9): Show | a0001c0001t0001g0027 a0001c0001t0001g0038 a0001c0001t0001g0040 others(14): Show |
17 | 164 | 0.1037 | -8 | c.-38 others(19): Show |
SPDYE2 | ENSG00000205238.12 | transcript | ENST00000691607.2 | protein_coding | 3324 | chr7 | TogoVar | |||||||
SPDYE2_chr7_102546226_102568538 | 102549251 | CGTGTGTG others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00642.hp1 NA19030.hp1 |
a0001a0027 | a0001c0001a0027c0026 | a0001c0001t0001a0027c0026t0003 | a0001c0001t0001g0055 a0027c0026t0003g0037 |
2 | 164 | 0.0122 | -8 | c.-24 others(19): Show |
SPDYE2 | ENSG00000205238.12 | transcript | ENST00000691607.2 | protein_coding | 1974 | chr7 | TogoVar | |||||||
SPDYE2_chr7_102546226_102568538 | 102567320 | AGATTGAT others(1): Show |
A | downstream_gene_variant | MODIFIER | HG01175.hp2 HG02004.hp2 HG02698.hp2 |
a0001a0004 | a0001c0001a0004c0013 | a0001c0001t0009a0004c0013t0009 | a0001c0001t0009g0115 a0004c0013t0009g0129 a0004c0013t0009g0130 |
3 | 164 | 0.0183 | -8 | c.*53 others(19): Show |
SPDYE2 | ENSG00000205238.12 | transcript | ENST00000691607.2 | protein_coding | 3783 | chr7 | TogoVar | |||||||
SPDYE3_chr7_100302702_100327196 | 100318887 | GTTATTTA others(1): Show |
G | intron_variant | MODIFIER | NA18944.hp2 NA18952.hp2 NA18984.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 a0001c0001t0001g0126 |
3 | 344 | 0.0087 | -8 | c.134 others(25): Show |
SPDYE3 | ENSG00000214300.7 | transcript | ENST00000332397.6 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPDYE5_chr7_75487320_75509316 | 75496404 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG02818.hp2 HG02895.hp1 HG02896.hp2 others(7): Show |
a0002 | a0002c0002a0002c0022 | a0002c0002t0007a0002c0022t0028 | a0002c0002t0007g0016 a0002c0002t0007g0039 a0002c0002t0007g0121 others(3): Show |
10 | 408 | 0.0245 | -8 | c.380 others(23): Show |
SPDYE5 | ENSG00000170092.15 | transcript | ENST00000625065.4 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPDYE9_chr7_73070972_73091038 | 73083734 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00609.hp1 HG00741.hp2 HG01099.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0001 a0001c0001t0001g0044 a0001c0001t0001g0045 others(5): Show |
14 | 164 | 0.0854 | -8 | c.130 others(23): Show |
SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 2/7 | chr7 | TogoVar | |||||||
SPECC1L_chr22_24265831_24422738 | 24303844 | GGTGTGTG others(1): Show |
G | intron_variant | MODIFIER | HG01891.hp1 HG02056.hp1 HG02109.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0002g0297 others(7): Show |
10 | 326 | 0.0307 | -8 | c.153 others(25): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SPECC1L_chr22_24265831_24422738 | 24325538 | GATTTATT others(1): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00639.hp1 others(73): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(11): Show | a0001c0001t0001g0269 a0001c0001t0001g0272 a0001c0001t0001g0273 others(72): Show |
76 | 326 | 0.2331 | -8 | c.214 others(27): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20019207 | CATTCATT others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00741.hp1 HG00741.hp2 others(60): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0006others(4): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(34): Show | a0001c0001t0002g0112 a0001c0001t0002g0154 a0001c0001t0002g0200 others(60): Show |
63 | 250 | 0.2520 | -8 | c.-22 others(25): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20051068 | TTTTCTTT others(1): Show |
T | intron_variant | MODIFIER | HG00642.hp2 HG01074.hp1 HG01192.hp1 others(32): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0008others(5): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(23): Show | a0001c0001t0002g0138 a0001c0001t0002g0201 a0001c0001t0002g0244 others(32): Show |
35 | 250 | 0.1400 | -8 | c.-22 others(27): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20051133 | TTTCTTTC others(1): Show |
T | intron_variant | MODIFIER | HG02615.hp1 HG02809.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0026a0001c0001t0094 | a0001c0001t0026g0184 a0001c0001t0026g0186 a0001c0001t0094g0171 |
3 | 250 | 0.0120 | -8 | c.-22 others(27): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20082957 | TGTTCGTT others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00741.hp2 others(32): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0025a0001c0001t0026a0001c0001t0027others(21): Show | a0001c0001t0025g0158 a0001c0001t0026g0184 a0001c0001t0026g0186 others(32): Show |
35 | 250 | 0.1400 | -8 | c.-21 others(27): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20099694 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG02572.hp2 HG02615.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0026a0001c0001t0027a0001c0001t0095 | a0001c0001t0026g0184 a0001c0001t0026g0186 a0001c0001t0027g0185 others(2): Show |
5 | 250 | 0.0200 | -8 | c.147 others(25): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20132712 | GTTATTTA others(1): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG01070.hp1 HG01099.hp2 others(51): Show |
a0001a0003 | a0001c0003a0001c0006a0003c0004others(3): Show | a0001c0003t0021a0001c0003t0033a0001c0003t0035others(28): Show | a0001c0003t0021g0194 a0001c0003t0021g0198 a0001c0003t0033g0146 others(51): Show |
54 | 250 | 0.2160 | -8 | c.283 others(27): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20254134 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG01123.hp2 HG01515.hp2 HG01517.hp2 others(9): Show |
a0002 | a0002c0002 | a0002c0002t0005a0002c0002t0024a0002c0002t0068others(1): Show | a0002c0002t0005g0001 a0002c0002t0005g0043 a0002c0002t0005g0044 others(9): Show |
12 | 250 | 0.0480 | -8 | c.268 others(25): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20264457 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG01168.hp2 HG01952.hp1 HG01993.hp2 others(2): Show |
a0001a0003 | a0001c0003a0003c0007 | a0001c0003t0033a0001c0003t0050a0001c0003t0107others(1): Show | a0001c0003t0033g0146 a0001c0003t0033g0164 a0001c0003t0050g0209 others(2): Show |
5 | 250 | 0.0200 | -8 | c.294 others(27): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20270433 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG01070.hp1 HG01099.hp2 others(40): Show |
a0001a0003 | a0001c0003a0003c0004a0003c0007others(1): Show | a0001c0003t0007a0001c0003t0017a0001c0003t0018others(20): Show | a0001c0003t0007g0059 a0001c0003t0007g0062 a0001c0003t0007g0205 others(40): Show |
43 | 250 | 0.1720 | -8 | c.294 others(29): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPEF1_chr20_3772504_3786448 | 3774054 | CAAAAAAA others(1): Show |
C | downstream_gene_variant | MODIFIER | HG02257.hp1 HG02886.hp1 HG02965.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0006 |
6 | 418 | 0.0144 | -8 | c.*41 others(19): Show |
SPEF1 | ENSG00000101222.12 | transcript | ENST00000379756.3 | protein_coding | 3449 | chr20 | TogoVar | |||||||
SPEF1_chr20_3772504_3786448 | 3780416 | GCACACAC others(1): Show |
G | intron_variant | MODIFIER | HG02129.hp2 HG03453.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0005g0041 |
3 | 418 | 0.0072 | -8 | c.110 others(23): Show |
SPEF1 | ENSG00000101222.12 | transcript | ENST00000379756.3 | protein_coding | 1/6 | chr20 | TogoVar | |||||||
SPEF2_chr5_35612863_35819611 | 35661254 | TTATATAT others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00438.hp2 others(15): Show |
a0001a0004a0036 | a0001c0003a0004c0005a0036c0025 | a0001c0003t0001a0004c0005t0001a0036c0025t0001 | a0001c0003t0001g0026 a0001c0003t0001g0027 a0001c0003t0001g0032 others(15): Show |
18 | 268 | 0.0672 | -8 | c.116 others(27): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 8/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPEF2_chr5_35612863_35819611 | 35714680 | TTTTATTT others(1): Show |
T | intron_variant | MODIFIER | HG02615.hp2 HG02717.hp1 HG02723.hp1 others(3): Show |
a0006a0034 | a0006c0008a0034c0054 | a0006c0008t0001a0034c0054t0001 | a0006c0008t0001g0025 a0006c0008t0001g0039 a0006c0008t0001g0040 others(3): Show |
6 | 268 | 0.0224 | -8 | c.291 others(27): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 20/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPEF2_chr5_35612863_35819611 | 35777664 | CAAATAAA others(1): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00423.hp1 others(33): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0003a0002c0001others(5): Show | a0001c0002t0001a0001c0003t0001a0002c0001t0001others(5): Show | a0001c0002t0001g0067 a0001c0002t0001g0075 a0001c0003t0001g0003 others(33): Show |
36 | 268 | 0.1343 | -8 | c.421 others(27): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 29/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPEF2_chr5_35612863_35819611 | 35797317 | GGTGTGTG others(1): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp1 HG00735.hp2 others(42): Show |
a0001a0002a0004others(5): Show | a0001c0002a0001c0003a0002c0001others(7): Show | a0001c0002t0001a0001c0003t0001a0002c0001t0001others(7): Show | a0001c0002t0001g0020 a0001c0002t0001g0045 a0001c0002t0001g0049 others(42): Show |
45 | 268 | 0.1679 | -8 | c.483 others(27): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 33/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPEG_chr2_219429843_219498629 | 219431548 | TTTCCTTC others(1): Show |
T | upstream_gene_variant | MODIFIER | HG01243.hp1 HG02451.hp2 HG02486.hp2 others(6): Show |
a0001a0007a0008others(3): Show | a0001c0002a0001c0076a0001c0084others(5): Show | a0001c0002t0001a0001c0076t0001a0001c0084t0001others(6): Show | a0001c0002t0001g0013 a0001c0076t0001g0021 a0001c0084t0001g0241 others(6): Show |
9 | 304 | 0.0296 | -8 | c.-34 others(19): Show |
SPEG | ENSG00000072195.15 | transcript | ENST00000312358.12 | protein_coding | 3294 | chr2 | TogoVar | |||||||
SPEG_chr2_219429843_219498629 | 219440561 | TTTTATTT others(1): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG01074.hp2 HG01123.hp2 others(26): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0019a0001c0062others(8): Show | a0001c0002t0001a0001c0019t0001a0001c0062t0002others(8): Show | a0001c0002t0001g0066 a0001c0002t0001g0129 a0001c0002t0001g0231 others(26): Show |
29 | 304 | 0.0954 | -8 | c.389 others(25): Show |
SPEG | ENSG00000072195.15 | transcript | ENST00000312358.12 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPEG_chr2_219429843_219498629 | 219465860 | TGTGTGTG others(1): Show |
T | intron_variant | MODIFIER | HG02145.hp2 HG02717.hp2 HG02896.hp1 others(3): Show |
a0001a0002 | a0001c0002a0002c0003a0002c0081 | a0001c0002t0001a0002c0003t0002a0002c0081t0002 | a0001c0002t0001g0207 a0002c0003t0002g0206 a0002c0003t0002g0208 others(3): Show |
6 | 304 | 0.0197 | -8 | c.288 others(27): Show |
SPEG | ENSG00000072195.15 | transcript | ENST00000312358.12 | protein_coding | 9/40 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPEM1_chr17_7415324_7426632 | 7424547 | TTTCCTTC others(1): Show |
T | downstream_gene_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00597.hp2 others(54): Show |
a0001a0003a0005 | a0001c0001a0003c0003a0005c0005 | a0001c0001t0001a0003c0003t0001a0005c0005t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0003c0003t0001g0001 others(1): Show |
57 | 398 | 0.1432 | -8 | c.*29 others(19): Show |
SPEM1 | ENSG00000181323.8 | transcript | ENST00000323675.4 | protein_coding | 2916 | chr17 | TogoVar | |||||||
SPEM2_chr17_7420616_7432568 | 7424547 | TTTCCTTC others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00597.hp1 others(40): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0010a0002c0002others(4): Show | a0001c0001t0001a0001c0010t0001a0002c0002t0001others(4): Show | a0001c0001t0001g0001 a0001c0010t0001g0001 a0002c0002t0001g0001 others(4): Show |
43 | 364 | 0.1181 | -8 | c.-11 others(19): Show |
SPEM2 | ENSG00000184560.8 | transcript | ENST00000333870.8 | protein_coding | 1068 | chr17 | TogoVar | |||||||
SPEM3_chr17_7423857_7437820 | 7424547 | TTTCCTTC others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00597.hp2 others(38): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0008a0002c0002others(3): Show | a0001c0001t0001a0001c0008t0001a0002c0002t0001others(3): Show | a0001c0001t0001g0001 a0001c0008t0001g0002 a0002c0002t0001g0001 others(3): Show |
41 | 354 | 0.1158 | -8 | c.-43 others(19): Show |
SPEM3 | ENSG00000283439.4 | transcript | ENST00000636696.4 | protein_coding | 4309 | chr17 | TogoVar | |||||||
SPEN_chr1_15842707_15945456 | 15859340 | CTGTTTTC others(1): Show |
C | intron_variant | MODIFIER | HG02486.hp1 HG02572.hp2 NA19240.hp1 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0089 a0001c0004t0001g0090 a0001c0004t0001g0091 |
3 | 304 | 0.0099 | -8 | c.83+ others(25): Show |
SPEN | ENSG00000065526.13 | transcript | ENST00000375759.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPEN_chr1_15842707_15945456 | 15860378 | GGTGTGTG others(1): Show |
G | intron_variant | MODIFIER | HG02895.hp2 HG02970.hp1 HG03453.hp2 |
a0004 | a0004c0009 | a0004c0009t0001 | a0004c0009t0001g0114 a0004c0009t0001g0118 a0004c0009t0001g0189 |
3 | 304 | 0.0099 | -8 | c.83+ others(25): Show |
SPEN | ENSG00000065526.13 | transcript | ENST00000375759.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPEN_chr1_15842707_15945456 | 15898173 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG02970.hp1 NA18966.hp2 NA19087.hp1 |
a0002a0004 | a0002c0002a0004c0009 | a0002c0002t0001a0004c0009t0001 | a0002c0002t0001g0190 a0002c0002t0001g0278 a0004c0009t0001g0114 |
3 | 304 | 0.0099 | -8 | c.882 others(27): Show |
SPEN | ENSG00000065526.13 | transcript | ENST00000375759.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPG11_chr15_44557696_44668662 | 44639276 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG01891.hp2 HG02109.hp2 others(5): Show |
a0004a0008a0010others(1): Show | a0004c0004a0008c0007a0010c0011others(1): Show | a0004c0004t0001a0008c0007t0001a0010c0011t0001others(2): Show | a0004c0004t0001g0149 a0008c0007t0001g0150 a0008c0007t0001g0151 others(5): Show |
8 | 190 | 0.0421 | -8 | c.160 others(27): Show |
SPG11 | ENSG00000104133.16 | transcript | ENST00000261866.12 | protein_coding | 7/39 | chr15 | TogoVar | |||||||
SPG11_chr15_44557696_44668662 | 44641586 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG03209.hp1 HG03471.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0027 a0002c0002t0002g0020 |
2 | 190 | 0.0105 | -8 | c.160 others(27): Show |
SPG11 | ENSG00000104133.16 | transcript | ENST00000261866.12 | protein_coding | 7/39 | chr15 | TogoVar | |||||||
SPHKAP_chr2_227974955_228186687 | 227975280 | TGGAGAGC others(1): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(313): Show |
a0001a0002a0003others(18): Show | a0001c0001a0002c0002a0002c0012others(28): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(42): Show | a0001c0001t0001g0093 a0001c0001t0002g0002 a0001c0001t0002g0004 others(313): Show |
316 | 322 | 0.9814 | -8 | c.*64 others(19): Show |
SPHKAP | ENSG00000153820.13 | transcript | ENST00000392056.8 | protein_coding | 4674 | chr2 | TogoVar | |||||||
SPHKAP_chr2_227974955_228186687 | 228063210 | ATTTACCT others(1): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00609.hp1 HG01168.hp2 others(17): Show |
a0001a0005a0016others(1): Show | a0001c0001a0005c0004a0016c0028others(1): Show | a0001c0001t0002a0005c0004t0003a0016c0028t0003others(1): Show | a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0006 others(17): Show |
20 | 322 | 0.0621 | -8 | c.247 others(27): Show |
SPHKAP | ENSG00000153820.13 | transcript | ENST00000392056.8 | protein_coding | 3/11 | chr2 | TogoVar | |||||||
SPHKAP_chr2_227974955_228186687 | 228092406 | CACATATA others(1): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02257.hp1 HG02572.hp1 others(3): Show |
a0003 | a0003c0005 | a0003c0005t0005 | a0003c0005t0005g0086 a0003c0005t0005g0087 a0003c0005t0005g0090 others(3): Show |
6 | 322 | 0.0186 | -8 | c.246 others(27): Show |
SPHKAP | ENSG00000153820.13 | transcript | ENST00000392056.8 | protein_coding | 3/11 | chr2 | TogoVar |