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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CAPZB_chr1_19333775_19490539 | 19451742 | CTCTAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(89): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0018others(89): Show | 92 | 364 | 0.2528 | -5 | c.4-3 others(20): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
CAPZB_chr1_19333775_19490539 | 19458337 | AGTTTT | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(226): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(226): Show | 229 | 364 | 0.6291 | -5 | c.3+2 others(20): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
CAPZB_chr1_19333775_19490539 | 19460034 | TAAGTG | T | intron_variant | MODIFIER | HG00438.hp2 HG00735.hp1 HG00738.hp2 others(74): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0007a0001c0001t0001g0015a0001c0001t0001g0028others(74): Show | 77 | 364 | 0.2115 | -5 | c.3+2 others(20): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
CAPZB_chr1_19333775_19490539 | 19468741 | GTCATT | G | intron_variant | MODIFIER | HG01192.hp2 HG03669.hp1 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0091a0001c0001t0003g0095a0001c0001t0003g0096 | 3 | 364 | 0.0082 | -5 | c.3+1 others(20): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
CARD10_chr22_37485362_37524415 | 37512466 | CACACA | C | intron_variant | MODIFIER | HG00735.hp2 HG00741.hp1 HG01192.hp1 others(16): Show |
a0001a0003a0012 | a0001c0006a0003c0008a0003c0009others(3): Show | a0001c0006t0001a0001c0006t0014a0003c0008t0001others(5): Show | a0001c0006t0001g0016a0001c0006t0001g0020a0001c0006t0001g0021others(15): Show | 19 | 276 | 0.0688 | -5 | c.700 others(22): Show |
CARD10 | ENSG00000100065.15 | transcript | ENST00000251973.10 | protein_coding | 3/19 | chr22 | TogoVar | ||||||
CARD10_chr22_37485362_37524415 | 37512468 | CACACA | C | intron_variant | MODIFIER | HG02056.hp2 HG02145.hp1 HG03710.hp1 |
a0003a0008 | a0003c0004a0008c0019 | a0003c0004t0001a0008c0019t0001 | a0003c0004t0001g0220a0003c0004t0001g0221a0008c0019t0001g0051 | 3 | 276 | 0.0109 | -5 | c.700 others(22): Show |
CARD10 | ENSG00000100065.15 | transcript | ENST00000251973.10 | protein_coding | 3/19 | chr22 | TogoVar | ||||||
CARD11_chr7_2901142_3048867 | 2934051 | TTTTTC | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(318): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0002a0001c0003others(65): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(79): Show | a0001c0001t0001g0008a0001c0001t0001g0013a0001c0001t0001g0025others(318): Show | 321 | 322 | 0.9969 | -5 | c.151 others(22): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 10/24 | chr7 | TogoVar | ||||||
CARD11_chr7_2901142_3048867 | 2935039 | CTGTCT | C | intron_variant | MODIFIER | HG00099.hp1 HG00642.hp1 HG00735.hp1 others(50): Show |
a0001a0003a0012 | a0001c0001a0001c0002a0001c0003others(20): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0011others(24): Show | a0001c0001t0001g0166a0001c0001t0001g0302a0001c0001t0001g0319others(50): Show | 53 | 322 | 0.1646 | -5 | c.134 others(22): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 9/24 | chr7 | TogoVar | ||||||
CARD11_chr7_2901142_3048867 | 2951532 | GTTTTT | G | intron_variant | MODIFIER | HG00140.hp1 HG01074.hp1 HG01081.hp2 others(10): Show |
a0001a0006a0007 | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(7): Show | a0001c0001t0001g0079a0001c0001t0001g0146a0001c0001t0001g0280others(10): Show | 13 | 322 | 0.0404 | -5 | c.8-3 others(18): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 2/24 | chr7 | TogoVar | ||||||
CARD11_chr7_2901142_3048867 | 2988231 | GGAAAT | G | intron_variant | MODIFIER | HG02145.hp1 HG02895.hp2 HG02897.hp2 |
a0001 | a0001c0008a0001c0016 | a0001c0008t0001a0001c0016t0001 | a0001c0008t0001g0032a0001c0008t0001g0033a0001c0016t0001g0094 | 3 | 322 | 0.0093 | -5 | c.-12 others(26): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 1/24 | chr7 | TogoVar | ||||||
CARD14_chr17_80165030_80214331 | 80165033 | CATTTT | C | upstream_gene_variant | MODIFIER | NA18971.hp2 NA18982.hp1 NA18986.hp2 others(1): Show |
a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0063a0002c0005t0001g0083a0002c0005t0001g0141others(1): Show | 4 | 376 | 0.0106 | -5 | c.-57 others(16): Show |
CARD14 | ENSG00000141527.19 | transcript | ENST00000648509.2 | protein_coding | 4996 | chr17 | TogoVar | ||||||
CARD6_chr5_40836367_40860354 | 40850658 | GTTGCA | G | intron_variant | MODIFIER | HG02040.hp1 NA18952.hp2 NA19000.hp1 others(5): Show |
a0001a0019 | a0001c0001a0019c0021 | a0001c0001t0002a0019c0021t0002 | a0001c0001t0002g0032a0001c0001t0002g0036a0001c0001t0002g0188others(1): Show | 8 | 440 | 0.0182 | -5 | c.842 others(22): Show |
CARD6 | ENSG00000132357.14 | transcript | ENST00000254691.10 | protein_coding | 2/2 | chr5 | TogoVar | ||||||
CARD6_chr5_40836367_40860354 | 40850800 | ATTTTT | A | intron_variant | MODIFIER | HG02040.hp1 NA18952.hp2 NA19000.hp1 others(5): Show |
a0001a0019 | a0001c0001a0019c0021 | a0001c0001t0002a0019c0021t0002 | a0001c0001t0002g0032a0001c0001t0002g0036a0001c0001t0002g0188others(1): Show | 8 | 440 | 0.0182 | -5 | c.842 others(22): Show |
CARD6 | ENSG00000132357.14 | transcript | ENST00000254691.10 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CARD8_chr19_48203086_48260912 | 48214769 | CTTTTT | C | intron_variant | MODIFIER | HG00733.hp1 HG01167.hp1 HG01169.hp2 others(32): Show |
a0001a0004a0007others(2): Show | a0001c0002a0001c0005a0004c0007others(5): Show | a0001c0002t0002a0001c0002t0007a0001c0005t0009others(11): Show | a0001c0002t0002g0117a0001c0002t0002g0178a0001c0002t0002g0190others(28): Show | 35 | 362 | 0.0967 | -5 | c.134 others(22): Show |
CARD8 | ENSG00000105483.18 | transcript | ENST00000651546.1 | protein_coding | 13/13 | chr19 | TogoVar | ||||||
CARD8_chr19_48203086_48260912 | 48215408 | TGATGA | T | intron_variant | MODIFIER | HG01978.hp1 HG01993.hp2 HG02148.hp2 others(1): Show |
a0001 | a0001c0004 | a0001c0004t0003a0001c0004t0014 | a0001c0004t0003g0173a0001c0004t0003g0175a0001c0004t0003g0176others(1): Show | 4 | 362 | 0.0111 | -5 | c.130 others(20): Show |
CARD8 | ENSG00000105483.18 | transcript | ENST00000651546.1 | protein_coding | 12/13 | chr19 | TogoVar | ||||||
CARD8_chr19_48203086_48260912 | 48220942 | AGAAAG | A | intron_variant | MODIFIER | HG02486.hp1 HG02622.hp1 HG02630.hp1 others(3): Show |
a0001a0004 | a0001c0002a0001c0003a0004c0007 | a0001c0002t0043a0001c0002t0049a0001c0002t0064others(3): Show | a0001c0002t0043g0222a0001c0002t0049g0255a0001c0002t0064g0332others(3): Show | 6 | 362 | 0.0166 | -5 | c.116 others(22): Show |
CARD8 | ENSG00000105483.18 | transcript | ENST00000651546.1 | protein_coding | 11/13 | chr19 | TogoVar | ||||||
CARD8_chr19_48203086_48260912 | 48247923 | CAATTA | C | intron_variant | MODIFIER | HG00735.hp2 HG00738.hp1 HG01167.hp1 others(15): Show |
a0001a0002a0006others(2): Show | a0001c0002a0001c0004a0001c0005others(4): Show | a0001c0002t0062a0001c0002t0064a0001c0004t0024others(6): Show | a0001c0002t0062g0322a0001c0002t0064g0332a0001c0004t0024g0023others(12): Show | 18 | 362 | 0.0497 | -5 | c.-44 others(22): Show |
CARD8 | ENSG00000105483.18 | transcript | ENST00000651546.1 | protein_coding | 3/13 | chr19 | TogoVar | ||||||
CARD9_chr9_136358956_136378669 | 136363745 | GGCCCC | G | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG00597.hp1 others(34): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003others(3): Show | a0001c0001t0001a0002c0002t0001a0002c0003t0001others(6): Show | a0001c0001t0001g0092a0002c0002t0001g0097a0002c0003t0001g0005others(15): Show | 37 | 406 | 0.0911 | -5 | c.*55 others(14): Show |
CARD9 | ENSG00000187796.16 | transcript | ENST00000371732.10 | protein_coding | 210 | chr9 | TogoVar | ||||||
CARF_chr2_202907275_202993263 | 202955054 | ATTTGT | A | intron_variant | MODIFIER | HG02129.hp2 HG02132.hp1 NA18968.hp2 others(4): Show |
a0004 | a0004c0004 | a0004c0004t0019a0004c0004t0020a0004c0004t0034others(1): Show | a0004c0004t0019g0277a0004c0004t0019g0279a0004c0004t0019g0287others(4): Show | 7 | 334 | 0.0210 | -5 | c.558 others(20): Show |
CARF | ENSG00000138380.18 | transcript | ENST00000438828.4 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CARHSP1_chr16_8847947_8874006 | 8850564 | TGGAAG | T | downstream_gene_variant | MODIFIER | HG01256.hp2 HG01258.hp2 HG01261.hp2 others(12): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0008 | a0001c0002t0004g0005a0001c0002t0004g0006a0001c0002t0004g0017others(7): Show | 15 | 470 | 0.0319 | -5 | c.*45 others(16): Show |
CARHSP1 | ENSG00000153048.11 | transcript | ENST00000311052.10 | protein_coding | 2382 | chr16 | TogoVar | ||||||
CARHSP1_chr16_8847947_8874006 | 8851977 | CTTTTT | C | downstream_gene_variant | MODIFIER | HG01346.hp2 HG01891.hp1 HG02258.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002a0001c0002t0011others(3): Show | a0001c0001t0001g0073a0001c0002t0002g0031a0001c0002t0011g0237others(5): Show | 8 | 470 | 0.0170 | -5 | c.*31 others(16): Show |
CARHSP1 | ENSG00000153048.11 | transcript | ENST00000311052.10 | protein_coding | 969 | chr16 | TogoVar | ||||||
CARM1_chr19_10866553_10928075 | 10885010 | ATTTAT | A | intron_variant | MODIFIER | HG02698.hp2 HG02738.hp2 HG03942.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0023a0001c0002t0066 | a0001c0002t0023g0111a0001c0002t0023g0112a0001c0002t0023g0113others(1): Show | 4 | 354 | 0.0113 | -5 | c.220 others(24): Show |
CARM1 | ENSG00000142453.13 | transcript | ENST00000327064.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CARM1_chr19_10866553_10928075 | 10906861 | CTTTAT | C | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00597.hp1 others(51): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0015a0001c0001t0001g0043a0001c0001t0001g0104others(50): Show | 54 | 354 | 0.1525 | -5 | c.347 others(22): Show |
CARM1 | ENSG00000142453.13 | transcript | ENST00000327064.9 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CARM1_chr19_10866553_10928075 | 10926856 | AATTTT | A | downstream_gene_variant | MODIFIER | HG02698.hp2 HG02738.hp2 HG03942.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0023a0001c0002t0066 | a0001c0002t0023g0111a0001c0002t0023g0112a0001c0002t0023g0113others(1): Show | 4 | 354 | 0.0113 | -5 | c.*51 others(16): Show |
CARM1 | ENSG00000142453.13 | transcript | ENST00000327064.9 | protein_coding | 3782 | chr19 | TogoVar | ||||||
CARMIL1_chr6_25274374_25625530 | 25301888 | TAGATC | T | intron_variant | MODIFIER | HG00642.hp1 HG01081.hp1 HG01106.hp1 |
a0002a0005 | a0002c0007a0005c0019 | a0002c0007t0006a0005c0019t0001 | a0002c0007t0006g0033a0002c0007t0006g0035a0005c0019t0001g0034 | 3 | 186 | 0.0161 | -5 | c.138 others(24): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25312202 | AAACTT | A | intron_variant | MODIFIER | HG02572.hp1 HG06807.hp1 NA18906.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0012 | a0001c0002t0001g0007a0001c0002t0001g0008a0001c0002t0012g0183 | 3 | 186 | 0.0161 | -5 | c.138 others(24): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | chr6 | TogoVar | ||||||
CARMIL1_chr6_25274374_25625530 | 25339079 | ATAAAT | A | intron_variant | MODIFIER | HG01109.hp2 HG01255.hp2 HG02615.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0012a0001c0001t0019others(8): Show | a0001c0001t0001g0012a0001c0001t0012g0179a0001c0001t0019g0014others(9): Show | 12 | 186 | 0.0645 | -5 | c.138 others(24): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25369379 | GTTTTT | G | intron_variant | MODIFIER | HG00140.hp2 HG00609.hp2 HG00621.hp1 others(29): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(22): Show | a0001c0001t0001g0058a0001c0001t0001g0084a0001c0001t0003g0054others(29): Show | 32 | 186 | 0.1720 | -5 | c.139 others(24): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25372404 | ATTATC | A | intron_variant | MODIFIER | HG00140.hp1 HG01175.hp2 |
a0001 | a0001c0002a0001c0012 | a0001c0002t0005a0001c0012t0005 | a0001c0002t0005g0154a0001c0012t0005g0156 | 2 | 186 | 0.0108 | -5 | c.139 others(24): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25390313 | TATATA | T | intron_variant | MODIFIER | HG00621.hp1 HG01106.hp2 HG03704.hp1 others(2): Show |
a0001a0002a0004 | a0001c0001a0001c0006a0001c0015others(2): Show | a0001c0001t0001a0001c0006t0002a0001c0015t0002others(2): Show | a0001c0001t0001g0058a0001c0006t0002g0110a0001c0015t0002g0032others(2): Show | 5 | 186 | 0.0269 | -5 | c.139 others(24): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | chr6 | TogoVar | ||||||
CARMIL1_chr6_25274374_25625530 | 25390315 | TATATA | T | intron_variant | MODIFIER | HG00140.hp2 HG00609.hp2 HG00738.hp1 others(10): Show |
a0001a0008 | a0001c0001a0001c0003a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(8): Show | a0001c0001t0001g0020a0001c0001t0001g0084a0001c0001t0003g0054others(10): Show | 13 | 186 | 0.0699 | -5 | c.139 others(24): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | chr6 | TogoVar | ||||||
CARMIL1_chr6_25274374_25625530 | 25450912 | TTCTCC | T | intron_variant | MODIFIER | HG00735.hp1 HG01106.hp1 HG01243.hp1 others(7): Show |
a0001a0002a0005others(2): Show | a0001c0002a0001c0004a0001c0009others(5): Show | a0001c0002t0003a0001c0004t0004a0001c0009t0009others(7): Show | a0001c0002t0003g0017a0001c0004t0004g0040a0001c0009t0009g0046others(7): Show | 10 | 186 | 0.0538 | -5 | c.614 others(20): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 8/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25490746 | TAAATA | T | intron_variant | MODIFIER | HG02486.hp1 HG02615.hp2 HG06807.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0005a0001c0002t0022 | a0001c0002t0001g0007a0001c0002t0001g0008a0001c0002t0001g0105others(3): Show | 6 | 186 | 0.0323 | -5 | c.106 others(22): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 13/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25585797 | TGCACC | T | intron_variant | MODIFIER | HG02109.hp2 HG02486.hp2 HG02970.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0033 | a0001c0001t0008a0001c0001t0015a0001c0002t0008others(1): Show | a0001c0001t0008g0101a0001c0001t0015g0176a0001c0001t0015g0184others(2): Show | 5 | 186 | 0.0269 | -5 | c.300 others(24): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 31/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25587259 | CTTAAT | C | intron_variant | MODIFIER | HG02109.hp2 HG02486.hp2 HG02970.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0033 | a0001c0001t0008a0001c0001t0015a0001c0002t0008others(1): Show | a0001c0001t0008g0101a0001c0001t0015g0176a0001c0001t0015g0184others(2): Show | 5 | 186 | 0.0269 | -5 | c.300 others(24): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 31/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25605358 | TAATAA | T | intron_variant | MODIFIER | HG00323.hp1 HG01074.hp1 HG01109.hp2 others(17): Show |
a0001a0008 | a0001c0003a0001c0004a0001c0006others(3): Show | a0001c0003t0004a0001c0003t0010a0001c0003t0023others(8): Show | a0001c0003t0004g0022a0001c0003t0004g0092a0001c0003t0010g0185others(17): Show | 20 | 186 | 0.1075 | -5 | c.363 others(22): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 34/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25619733 | CTTTTT | C | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00544.hp1 others(34): Show |
a0001a0003a0007others(2): Show | a0001c0003a0001c0004a0001c0006others(9): Show | a0001c0003t0002a0001c0003t0009a0001c0004t0002others(14): Show | a0001c0003t0002g0002a0001c0003t0002g0010a0001c0003t0002g0037others(34): Show | 37 | 186 | 0.1989 | -5 | c.*17 others(14): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 37/37 | 174 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||
CARMIL3_chr14_24047009_24074729 | 24063951 | GGGCGT | G | intron_variant | MODIFIER | HG01243.hp2 HG02818.hp1 HG02896.hp1 others(3): Show |
a0001a0002a0010 | a0001c0003a0002c0004a0010c0022 | a0001c0003t0001a0002c0004t0001a0010c0022t0001 | a0001c0003t0001g0170a0002c0004t0001g0120a0002c0004t0001g0161others(2): Show | 6 | 414 | 0.0145 | -5 | c.298 others(22): Show |
CARMIL3 | ENSG00000186648.15 | transcript | ENST00000342740.6 | protein_coding | 31/39 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
CARNS1_chr11_67410678_67430604 | 67429462 | AGGGTG | A | downstream_gene_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG04184.hp2 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0023 | a0001c0001t0007g0002a0001c0001t0023g0029 | 3 | 346 | 0.0087 | -5 | c.*48 others(16): Show |
CARNS1 | ENSG00000172508.11 | transcript | ENST00000687366.1 | protein_coding | 3859 | chr11 | TogoVar | ||||||
CARS2_chr13_110636417_110711116 | 110649931 | CTTTTT | C | intron_variant | MODIFIER | HG01891.hp1 HG02258.hp1 HG02922.hp1 others(3): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0002t0003a0001c0003t0002 | a0001c0002t0001g0265a0001c0002t0003g0269a0001c0002t0003g0270others(3): Show | 6 | 372 | 0.0161 | -5 | c.105 others(24): Show |
CARS2 | ENSG00000134905.17 | transcript | ENST00000257347.9 | protein_coding | 10/14 | chr13 | TogoVar | ||||||
CARS2_chr13_110636417_110711116 | 110680147 | AGGGGG | A | intron_variant | MODIFIER | HG00597.hp2 HG01099.hp1 HG02040.hp2 others(17): Show |
a0001a0003a0005 | a0001c0001a0001c0003a0001c0007others(2): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(3): Show | a0001c0001t0001g0073a0001c0001t0001g0075a0001c0001t0001g0080others(17): Show | 20 | 372 | 0.0538 | -5 | c.655 others(22): Show |
CARS2 | ENSG00000134905.17 | transcript | ENST00000257347.9 | protein_coding | 6/14 | chr13 | TogoVar | ||||||
CASD1_chr7_94504809_94562019 | 94534159 | ATTTTT | A | intron_variant | MODIFIER | HG01891.hp1 HG02976.hp1 HG03098.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023a0001c0001t0001g0051a0001c0001t0001g0052others(2): Show | 6 | 398 | 0.0151 | -5 | c.628 others(20): Show |
CASD1 | ENSG00000127995.17 | transcript | ENST00000297273.9 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CASD1_chr7_94504809_94562019 | 94541537 | GTTTTT | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(190): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0010others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0010others(126): Show | 193 | 398 | 0.4849 | -5 | c.135 others(24): Show |
CASD1 | ENSG00000127995.17 | transcript | ENST00000297273.9 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CASD1_chr7_94504809_94562019 | 94546985 | CTTATA | C | intron_variant | MODIFIER | HG00738.hp1 HG02486.hp1 HG03516.hp1 others(1): Show |
a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0032a0001c0006t0002g0194a0001c0006t0002g0195 | 4 | 398 | 0.0101 | -5 | c.163 others(22): Show |
CASD1 | ENSG00000127995.17 | transcript | ENST00000297273.9 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CASKIN1_chr16_2172180_2201605 | 2200974 | TTTTTC | T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(139): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0004a0001c0005others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(22): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(86): Show | 142 | 350 | 0.4057 | -5 | c.-45 others(16): Show |
CASKIN1 | ENSG00000167971.16 | transcript | ENST00000343516.8 | protein_coding | 4370 | chr16 | TogoVar | ||||||
CASK_chrX_41509934_41928554 | 41517225 | TTTAGA | T | 3_prime_UTR_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02109.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0004a0001c0001t0007g0005a0001c0001t0007g0006 | 3 | 164 | 0.0183 | -5 | c.*31 others(16): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 27/27 | 3190 | chrX | TogoVar | |||||
CASK_chrX_41509934_41928554 | 41534391 | AAACAC | A | intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 164 | 0.0061 | -5 | c.231 others(22): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 24/26 | chrX | TogoVar | ||||||
CASK_chrX_41509934_41928554 | 41606274 | ATTCAT | A | intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0090 | 1 | 164 | 0.0061 | -5 | c.115 others(24): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 12/26 | chrX | TogoVar | ||||||
CASK_chrX_41509934_41928554 | 41680419 | TTGCAG | T | intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 164 | 0.0061 | -5 | c.430 others(22): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 5/26 | chrX | TogoVar | ||||||
CASK_chrX_41509934_41928554 | 41694985 | CTCTCT | C | intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0090 | 1 | 164 | 0.0061 | -5 | c.430 others(24): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 5/26 | chrX | TogoVar |