regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CNBP_chr3_129162827_129188896 | 129164210 | CAAAAAAA others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(124): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0010others(111): Show | 127 | 430 | 0.2954 | -8 | c.*62 others(19): Show |
CNBP | ENSG00000169714.17 | transcript | ENST00000422453.7 | protein_coding | 3616 | chr3 | TogoVar | ||||||
CNBP_chr3_129162827_129188896 | 129172600 | GCAGGCAG others(1): Show |
G | intron_variant | MODIFIER | HG00738.hp2 HG01884.hp1 HG02257.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0017others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0309a0001c0002t0001g0021others(6): Show | 9 | 430 | 0.0209 | -8 | c.-14 others(23): Show |
CNBP | ENSG00000169714.17 | transcript | ENST00000422453.7 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
CNBP_chr3_129162827_129188896 | 129172624 | CCAGGCAG others(1): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG01099.hp1 HG01109.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0003 | a0001c0001t0001g0010a0001c0001t0001g0093a0001c0001t0001g0269others(3): Show | 7 | 430 | 0.0163 | -8 | c.-14 others(23): Show |
CNBP | ENSG00000169714.17 | transcript | ENST00000422453.7 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
CNBP_chr3_129162827_129188896 | 129172656 | GCAGACAG others(1): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG02109.hp1 HG02717.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0011 | a0001c0001t0001g0023a0001c0001t0001g0243a0001c0001t0003g0033others(1): Show | 6 | 430 | 0.0140 | -8 | c.-14 others(23): Show |
CNBP | ENSG00000169714.17 | transcript | ENST00000422453.7 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
CNBP_chr3_129162827_129188896 | 129172695 | GACACACA others(1): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp1 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0234a0001c0001t0003g0235a0001c0001t0003g0237 | 3 | 430 | 0.0070 | -8 | c.-14 others(23): Show |
CNBP | ENSG00000169714.17 | transcript | ENST00000422453.7 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
CNBP_chr3_129162827_129188896 | 129182939 | GTTGTTTG others(1): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02257.hp2 HG02647.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0017a0001c0002t0023others(1): Show | a0001c0001t0002g0179a0001c0001t0002g0180a0001c0002t0017g0377others(3): Show | 6 | 430 | 0.0140 | -8 | c.-15 others(23): Show |
CNBP | ENSG00000169714.17 | transcript | ENST00000422453.7 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
CNDP1_chr18_74529500_74592212 | 74551361 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(109): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0002a0001c0008others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(57): Show | a0001c0001t0001g0134a0001c0001t0001g0162a0001c0001t0001g0168others(107): Show | 112 | 390 | 0.2872 | -8 | c.25- others(23): Show |
CNDP1 | ENSG00000150656.15 | transcript | ENST00000358821.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CNDP1_chr18_74529500_74592212 | 74581218 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG01123.hp1 HG01515.hp2 HG01517.hp1 others(12): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(7): Show | a0001c0001t0001g0278a0001c0001t0003g0061a0001c0001t0003g0154others(11): Show | 15 | 390 | 0.0385 | -8 | c.130 others(25): Show |
CNDP1 | ENSG00000150656.15 | transcript | ENST00000358821.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CNEP1R1_chr16_50020225_50042081 | 50023111 | CTTGTTTG others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG00597.hp1 others(121): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0011others(32): Show | 124 | 378 | 0.3280 | -8 | c.-22 others(19): Show |
CNEP1R1 | ENSG00000205423.12 | transcript | ENST00000427478.7 | protein_coding | 2113 | chr16 | TogoVar | ||||||
CNGA1_chr4_47930977_48021681 | 47946770 | TTTTCTTT others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(331): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0011others(313): Show | 334 | 366 | 0.9126 | -8 | c.287 others(25): Show |
CNGA1 | ENSG00000198515.16 | transcript | ENST00000514170.7 | protein_coding | 6/10 | chr4 | TogoVar | ||||||
CNGA1_chr4_47930977_48021681 | 47952368 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG02886.hp1 HG03453.hp1 HG03516.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0003t0003 | a0001c0001t0001g0238a0001c0001t0003g0077a0001c0001t0003g0079others(1): Show | 4 | 366 | 0.0109 | -8 | c.107 others(23): Show |
CNGA1 | ENSG00000198515.16 | transcript | ENST00000514170.7 | protein_coding | 4/10 | chr4 | TogoVar | ||||||
CNGA1_chr4_47930977_48021681 | 47974067 | TCTAGATA others(1): Show |
T | intron_variant | MODIFIER | HG01071.hp1 HG01255.hp1 HG01891.hp1 others(22): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002a0002c0002t0007 | a0001c0001t0002g0103a0001c0001t0002g0106a0001c0001t0002g0107others(21): Show | 25 | 366 | 0.0683 | -8 | c.-15 others(25): Show |
CNGA1 | ENSG00000198515.16 | transcript | ENST00000514170.7 | protein_coding | 3/10 | chr4 | TogoVar | ||||||
CNGA1_chr4_47930977_48021681 | 47974068 | CTAGATAG others(1): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00609.hp2 HG00639.hp1 others(21): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(3): Show | a0001c0001t0001g0011a0001c0001t0001g0204a0001c0001t0001g0213others(20): Show | 24 | 366 | 0.0656 | -8 | c.-15 others(25): Show |
CNGA1 | ENSG00000198515.16 | transcript | ENST00000514170.7 | protein_coding | 3/10 | chr4 | TogoVar | ||||||
CNGA1_chr4_47930977_48021681 | 47976149 | GTATATAT others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(137): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0011others(127): Show | 140 | 366 | 0.3825 | -8 | c.-15 others(25): Show |
CNGA1 | ENSG00000198515.16 | transcript | ENST00000514170.7 | protein_coding | 3/10 | chr4 | TogoVar | ||||||
CNGA1_chr4_47930977_48021681 | 47992657 | ATTATTTA others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG00642.hp1 others(27): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0014a0001c0001t0001g0297a0001c0001t0003g0066others(26): Show | 30 | 366 | 0.0820 | -8 | c.-12 others(29): Show |
CNGA1 | ENSG00000198515.16 | transcript | ENST00000514170.7 | protein_coding | 2/10 | chr4 | TogoVar | ||||||
CNGA2_chrX_151729746_151750564 | 151749311 | CGTGTGTG others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00642.hp1 HG01891.hp2 HG02647.hp1 others(3): Show |
a0004a0015 | a0004c0005a0015c0019 | a0004c0005t0005a0015c0019t0002 | a0004c0005t0005g0022a0004c0005t0005g0094a0004c0005t0005g0098others(2): Show | 6 | 336 | 0.0179 | -8 | c.*48 others(19): Show |
CNGA2 | ENSG00000183862.6 | transcript | ENST00000329903.5 | protein_coding | 3748 | chrX | TogoVar | ||||||
CNGA4_chr11_6234089_6249479 | 6244585 | TACACACA others(1): Show |
T | downstream_gene_variant | MODIFIER | HG01256.hp2 HG01358.hp1 HG01516.hp2 others(17): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0002t0001a0003c0004t0001 | a0001c0001t0001g0001a0001c0002t0001g0002a0001c0002t0001g0020others(4): Show | 20 | 412 | 0.0485 | -8 | c.*17 others(17): Show |
CNGA4 | ENSG00000132259.13 | transcript | ENST00000379936.3 | protein_coding | 107 | chr11 | TogoVar | ||||||
CNGB1_chr16_57877340_57976128 | 57885576 | CTCTTTCT others(1): Show |
C | intron_variant | MODIFIER | HG01070.hp1 HG01123.hp2 HG01168.hp2 others(31): Show |
a0001a0002a0003others(10): Show | a0001c0002a0001c0007a0001c0013others(24): Show | a0001c0002t0003a0001c0007t0003a0001c0013t0004others(27): Show | a0001c0002t0003g0008a0001c0007t0003g0004a0001c0007t0003g0340others(31): Show | 34 | 360 | 0.0944 | -8 | c.346 others(27): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 32/32 | chr16 | TogoVar | ||||||
CNGB1_chr16_57877340_57976128 | 57896713 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG00733.hp1 HG01255.hp2 HG01261.hp2 others(16): Show |
a0001a0002a0006others(2): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0003a0001c0001t0013a0001c0002t0001others(15): Show | a0001c0001t0003g0224a0001c0001t0013g0206a0001c0002t0001g0125others(16): Show | 19 | 360 | 0.0528 | -8 | c.324 others(25): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 31/32 | chr16 | TogoVar | ||||||
CNGB1_chr16_57877340_57976128 | 57918108 | GTTATTTA others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00544.hp1 others(41): Show |
a0001a0002a0003others(5): Show | a0001c0002a0001c0003a0001c0007others(14): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(25): Show | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0040others(41): Show | 44 | 360 | 0.1222 | -8 | c.195 others(25): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 20/32 | chr16 | TogoVar | ||||||
CNGB1_chr16_57877340_57976128 | 57959605 | AAAACAAA others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00544.hp2 others(84): Show |
a0001a0003a0005others(10): Show | a0001c0002a0001c0004a0001c0007others(24): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(42): Show | a0001c0002t0001g0032a0001c0002t0001g0125a0001c0002t0001g0141others(82): Show | 87 | 360 | 0.2417 | -8 | c.761 others(23): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 10/32 | chr16 | TogoVar | ||||||
CNGB1_chr16_57877340_57976128 | 57961631 | GGAATGAA others(1): Show |
G | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00597.hp2 others(30): Show |
a0001a0002a0003others(8): Show | a0001c0002a0001c0003a0001c0004others(17): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(25): Show | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0040others(30): Show | 33 | 360 | 0.0917 | -8 | c.459 others(23): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 7/32 | chr16 | TogoVar | ||||||
CNGB3_chr8_86569179_86748634 | 86635857 | TATATATA others(1): Show |
T | intron_variant | MODIFIER | HG01069.hp2 HG01884.hp2 HG03209.hp1 others(9): Show |
a0001a0004a0005 | a0001c0001a0004c0003a0005c0005 | a0001c0001t0001a0001c0001t0003a0004c0003t0001others(1): Show | a0001c0001t0001g0163a0001c0001t0001g0215a0001c0001t0001g0227others(9): Show | 12 | 288 | 0.0417 | -8 | c.117 others(27): Show |
CNGB3 | ENSG00000170289.13 | transcript | ENST00000320005.6 | protein_coding | 10/17 | chr8 | TogoVar | ||||||
CNGB3_chr8_86569179_86748634 | 86635859 | TATATACA others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG01106.hp1 HG01109.hp1 others(7): Show |
a0001a0002a0006others(1): Show | a0001c0016a0002c0002a0006c0006others(1): Show | a0001c0016t0001a0002c0002t0001a0002c0002t0004others(2): Show | a0001c0016t0001g0189a0002c0002t0001g0016a0002c0002t0001g0057others(7): Show | 10 | 288 | 0.0347 | -8 | c.117 others(27): Show |
CNGB3 | ENSG00000170289.13 | transcript | ENST00000320005.6 | protein_coding | 10/17 | chr8 | TogoVar | ||||||
CNGB3_chr8_86569179_86748634 | 86674867 | CCTCAGTC others(1): Show |
C | intron_variant | MODIFIER | HG02717.hp1 HG02896.hp2 HG02965.hp1 others(4): Show |
a0006a0009 | a0006c0006a0009c0009 | a0006c0006t0001a0009c0009t0002 | a0006c0006t0001g0075a0006c0006t0001g0101a0006c0006t0001g0169others(4): Show | 7 | 288 | 0.0243 | -8 | c.339 others(25): Show |
CNGB3 | ENSG00000170289.13 | transcript | ENST00000320005.6 | protein_coding | 3/17 | chr8 | TogoVar | ||||||
CNGB3_chr8_86569179_86748634 | 86720833 | TATGTATA others(1): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02109.hp1 HG02965.hp2 others(8): Show |
a0001a0015 | a0001c0001a0015c0017 | a0001c0001t0001a0001c0001t0005a0015c0017t0001 | a0001c0001t0001g0038a0001c0001t0001g0045a0001c0001t0001g0046others(8): Show | 11 | 288 | 0.0382 | -8 | c.338 others(25): Show |
CNGB3 | ENSG00000170289.13 | transcript | ENST00000320005.6 | protein_coding | 3/17 | chr8 | TogoVar | ||||||
CNGB3_chr8_86569179_86748634 | 86748563 | CAAAAAAT others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00735.hp1 HG01069.hp1 HG01071.hp2 others(6): Show |
a0002a0007a0012others(1): Show | a0002c0002a0007c0007a0012c0020others(1): Show | a0002c0002t0001a0007c0007t0001a0007c0007t0004others(2): Show | a0002c0002t0001g0016a0007c0007t0001g0008a0007c0007t0001g0010others(6): Show | 9 | 288 | 0.0313 | -8 | c.-49 others(19): Show |
CNGB3 | ENSG00000170289.13 | transcript | ENST00000320005.6 | protein_coding | 4930 | chr8 | TogoVar | ||||||
CNIH3_chr1_224611317_224745554 | 224614936 | CAAATAAA others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00642.hp1 HG01069.hp2 HG01071.hp1 others(43): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0022others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0039a0001c0001t0001g0102others(36): Show | 46 | 358 | 0.1285 | -8 | c.-22 others(19): Show |
CNIH3 | ENSG00000143786.8 | transcript | ENST00000272133.4 | protein_coding | 1380 | chr1 | TogoVar | ||||||
CNIH3_chr1_224611317_224745554 | 224674272 | GTTTTTTT others(1): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0008a0001c0001t0001g0046a0001c0001t0001g0066others(32): Show | 36 | 358 | 0.1006 | -8 | c.82- others(23): Show |
CNIH3 | ENSG00000143786.8 | transcript | ENST00000272133.4 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CNIH3_chr1_224611317_224745554 | 224695357 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00544.hp2 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0017a0001c0001t0020others(2): Show | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0039others(30): Show | 33 | 358 | 0.0922 | -8 | c.198 others(27): Show |
CNIH3 | ENSG00000143786.8 | transcript | ENST00000272133.4 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CNIH3_chr1_224611317_224745554 | 224744260 | CTTTTTTT others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG01081.hp1 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0043a0001c0001t0001g0047a0001c0001t0001g0049others(29): Show | 32 | 358 | 0.0894 | -8 | c.*49 others(19): Show |
CNIH3 | ENSG00000143786.8 | transcript | ENST00000272133.4 | protein_coding | 3707 | chr1 | TogoVar | ||||||
CNKSR2_chrX_21369418_21659689 | 21372745 | CATATATA others(1): Show |
C | upstream_gene_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0032 | 1 | 163 | 0.0061 | -8 | c.-21 others(19): Show |
CNKSR2 | ENSG00000149970.16 | transcript | ENST00000379510.5 | protein_coding | 1672 | chrX | TogoVar | ||||||
CNKSR2_chrX_21369418_21659689 | 21409228 | TTATATAT others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG01081.hp2 HG01884.hp1 others(10): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0035a0001c0001t0001g0071a0001c0001t0002g0114others(10): Show | 13 | 163 | 0.0798 | -8 | c.65- others(25): Show |
CNKSR2 | ENSG00000149970.16 | transcript | ENST00000379510.5 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CNKSR2_chrX_21369418_21659689 | 21415833 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00621.hp1 HG01069.hp1 HG01071.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0002g0046others(13): Show | 16 | 163 | 0.0982 | -8 | c.65- others(25): Show |
CNKSR2 | ENSG00000149970.16 | transcript | ENST00000379510.5 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CNKSR2_chrX_21369418_21659689 | 21415865 | CACACACA others(1): Show |
C | intron_variant | MODIFIER | NA18986.hp1 NA19055.hp1 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0039 | a0001c0001t0008g0143a0001c0001t0039g0144 | 2 | 163 | 0.0123 | -8 | c.65- others(25): Show |
CNKSR2 | ENSG00000149970.16 | transcript | ENST00000379510.5 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CNKSR2_chrX_21369418_21659689 | 21495783 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG01071.hp1 HG02135.hp1 NA18965.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0037a0001c0001t0001g0069a0001c0001t0002g0004others(2): Show | 5 | 163 | 0.0307 | -8 | c.682 others(25): Show |
CNKSR2 | ENSG00000149970.16 | transcript | ENST00000379510.5 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CNKSR2_chrX_21369418_21659689 | 21567795 | GGTGTGTG others(1): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00735.hp1 HG00741.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0002a0001c0001t0043a0002c0005t0003 | a0001c0001t0002g0019a0001c0001t0002g0111a0001c0001t0002g0112others(4): Show | 7 | 163 | 0.0429 | -8 | c.160 others(27): Show |
CNKSR2 | ENSG00000149970.16 | transcript | ENST00000379510.5 | protein_coding | 13/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CNKSR2_chrX_21369418_21659689 | 21635550 | GTGTATAT others(1): Show |
G | intron_variant | MODIFIER | HG01243.hp1 HG02055.hp1 HG02486.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0020a0001c0001t0022a0001c0001t0027others(1): Show | a0001c0001t0020g0141a0001c0001t0022g0033a0001c0001t0027g0034others(2): Show | 5 | 163 | 0.0307 | -8 | c.269 others(29): Show |
CNKSR2 | ENSG00000149970.16 | transcript | ENST00000379510.5 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CNKSR2_chrX_21369418_21659689 | 21659490 | TTTTATTT others(1): Show |
T | downstream_gene_variant | MODIFIER | HG00735.hp2 HG00741.hp1 HG01071.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0077a0001c0001t0002g0112a0001c0001t0004g0056others(4): Show | 7 | 163 | 0.0429 | -8 | c.*69 others(19): Show |
CNKSR2 | ENSG00000149970.16 | transcript | ENST00000379510.5 | protein_coding | 4802 | chrX | TogoVar | ||||||
CNKSR2_chrX_21369418_21659689 | 21659530 | ATTTATTT others(1): Show |
A | downstream_gene_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0008 | 1 | 163 | 0.0061 | -8 | c.*70 others(19): Show |
CNKSR2 | ENSG00000149970.16 | transcript | ENST00000379510.5 | protein_coding | 4842 | chrX | TogoVar | ||||||
CNKSR3_chr6_154382515_154515685 | 154420688 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG00741.hp2 HG01070.hp2 others(69): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(49): Show | a0001c0001t0001g0157a0001c0001t0002g0078a0001c0001t0002g0136others(69): Show | 72 | 342 | 0.2105 | -8 | c.945 others(25): Show |
CNKSR3 | ENSG00000153721.19 | transcript | ENST00000607772.6 | protein_coding | 9/12 | chr6 | TogoVar | ||||||
CNKSR3_chr6_154382515_154515685 | 154431800 | CTTGTAAG others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG01070.hp2 HG01074.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0180a0001c0002t0001a0001c0002t0019others(10): Show | a0001c0001t0180g0074a0001c0002t0001g0296a0001c0002t0019g0132others(13): Show | 16 | 342 | 0.0468 | -8 | c.550 others(25): Show |
CNKSR3 | ENSG00000153721.19 | transcript | ENST00000607772.6 | protein_coding | 5/12 | chr6 | TogoVar | ||||||
CNKSR3_chr6_154382515_154515685 | 154451538 | CGCACAGA others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(236): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0009others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(151): Show | a0001c0001t0001g0087a0001c0001t0001g0092a0001c0001t0001g0093others(236): Show | 239 | 342 | 0.6988 | -8 | c.53- others(23): Show |
CNKSR3 | ENSG00000153721.19 | transcript | ENST00000607772.6 | protein_coding | 1/12 | chr6 | TogoVar | ||||||
CNKSR3_chr6_154382515_154515685 | 154454104 | CAGAGAGA others(1): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00621.hp2 others(62): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(48): Show | a0001c0001t0001g0157a0001c0001t0001g0261a0001c0001t0003g0122others(62): Show | 65 | 342 | 0.1901 | -8 | c.53- others(23): Show |
CNKSR3 | ENSG00000153721.19 | transcript | ENST00000607772.6 | protein_coding | 1/12 | chr6 | TogoVar | ||||||
CNKSR3_chr6_154382515_154515685 | 154470188 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG02615.hp1 HG02630.hp2 HG02647.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0006a0001c0001t0031a0001c0001t0032others(16): Show | a0001c0001t0006g0107a0001c0001t0006g0109a0001c0001t0031g0192others(19): Show | 22 | 342 | 0.0643 | -8 | c.53- others(25): Show |
CNKSR3 | ENSG00000153721.19 | transcript | ENST00000607772.6 | protein_coding | 1/12 | chr6 | TogoVar | ||||||
CNMD_chr13_52698264_52744820 | 52740548 | ATGTGTGT others(1): Show |
A | upstream_gene_variant | MODIFIER | HG02257.hp2 HG02486.hp1 HG02896.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0001a0003c0007t0001 | a0001c0001t0001g0188a0001c0001t0001g0189a0001c0001t0001g0190others(3): Show | 6 | 330 | 0.0182 | -8 | c.-85 others(17): Show |
CNMD | ENSG00000136110.13 | transcript | ENST00000377962.8 | protein_coding | 729 | chr13 | TogoVar | ||||||
CNN1_chr19_11533851_11555323 | 11550882 | CAAAAAAA others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00735.hp1 HG01099.hp2 HG01106.hp1 others(4): Show |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0009a0001c0003t0003g0015a0001c0003t0003g0064others(1): Show | 7 | 392 | 0.0179 | -8 | c.*10 others(19): Show |
CNN1 | ENSG00000130176.8 | transcript | ENST00000252456.7 | protein_coding | 560 | chr19 | TogoVar | ||||||
CNN1_chr19_11533851_11555323 | 11553582 | TACACACA others(1): Show |
T | downstream_gene_variant | MODIFIER | HG01106.hp2 HG01123.hp2 HG01256.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0002 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(4): Show | 12 | 392 | 0.0306 | -8 | c.*37 others(19): Show |
CNN1 | ENSG00000130176.8 | transcript | ENST00000252456.7 | protein_coding | 3260 | chr19 | TogoVar | ||||||
CNN2_chr19_1021608_1044065 | 1031564 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00423.hp2 others(94): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0035a0001c0001t0001g0037a0001c0001t0001g0050others(76): Show | 97 | 390 | 0.2487 | -8 | c.185 others(23): Show |
CNN2 | ENSG00000064666.15 | transcript | ENST00000263097.9 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CNNM1_chr10_99324356_99399330 | 99356486 | AAGAGAGA others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00438.hp1 others(49): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0002c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0043a0001c0001t0001g0056a0001c0001t0001g0058others(49): Show | 52 | 320 | 0.1625 | -8 | c.157 others(27): Show |
CNNM1 | ENSG00000119946.12 | transcript | ENST00000356713.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |