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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CRLF2_chrX_1185490_1217649 | 1212806 | A | AACACACC | upstream_gene_variant | MODIFIER | HG01071.hp1 | a0021 | a0021c0036 | a0021c0036t0011 | a0021c0036t0011g0167 | 1 | 167 | 0.0060 | 7 | c.-17 others(16): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 158 | chrX | TogoVar | ||||||
CRLF2_chrX_1185490_1217649 | 1213337 | A | ACCCCCGC | upstream_gene_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0035 | 1 | 167 | 0.0060 | 7 | c.-70 others(16): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 689 | chrX | TogoVar | ||||||
CRLF3_chr17_30777684_30829692 | 30787535 | C | CAAAAAAA | intron_variant | MODIFIER | HG00544.hp1 HG00639.hp2 HG00642.hp2 others(62): Show |
a0001a0003 | a0001c0002a0003c0005 | a0001c0002t0002a0001c0002t0008a0001c0002t0013others(3): Show | a0001c0002t0002g0002a0001c0002t0002g0003a0001c0002t0002g0012others(60): Show | 65 | 324 | 0.2006 | 7 | c.960 others(24): Show |
CRLF3 | ENSG00000176390.12 | transcript | ENST00000324238.7 | protein_coding | 6/7 | chr17 | TogoVar | ||||||
CRLF3_chr17_30777684_30829692 | 30797987 | C | CTGGGCAT | intron_variant | MODIFIER | HG00544.hp1 HG00639.hp2 HG00642.hp2 others(73): Show |
a0001a0003 | a0001c0002a0003c0005 | a0001c0002t0002a0001c0002t0008a0001c0002t0009others(5): Show | a0001c0002t0002g0002a0001c0002t0002g0003a0001c0002t0002g0010others(71): Show | 76 | 324 | 0.2346 | 7 | c.338 others(22): Show |
CRLF3 | ENSG00000176390.12 | transcript | ENST00000324238.7 | protein_coding | 2/7 | chr17 | TogoVar | ||||||
CRLS1_chr20_6001123_6045053 | 6011572 | C | CTTTTTTT | intron_variant | MODIFIER | HG00741.hp1 HG01516.hp2 HG02647.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0010others(2): Show | a0001c0001t0001g0193a0001c0001t0001g0195a0001c0001t0005g0100others(4): Show | 7 | 366 | 0.0191 | 7 | c.444 others(24): Show |
CRLS1 | ENSG00000088766.12 | transcript | ENST00000378863.9 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CRMP1_chr4_5815764_5898086 | 5890227 | A | AAAGCCCT | intron_variant | MODIFIER | HG01168.hp2 HG01515.hp1 HG01516.hp2 others(2): Show |
a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0042a0002c0006t0001g0043a0002c0006t0001g0047others(2): Show | 5 | 314 | 0.0159 | 7 | c.381 others(24): Show |
CRMP1 | ENSG00000072832.15 | transcript | ENST00000324989.12 | protein_coding | 1/13 | chr4 | TogoVar | ||||||
CRMP1_chr4_5815764_5898086 | 5891213 | C | CACACACA | intron_variant | MODIFIER | HG00621.hp2 NA18952.hp2 NA18966.hp1 others(2): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0029 | a0001c0001t0001a0001c0003t0001a0004c0029t0001 | a0001c0001t0001g0155a0001c0001t0001g0156a0001c0001t0001g0158others(2): Show | 5 | 314 | 0.0159 | 7 | c.381 others(24): Show |
CRMP1 | ENSG00000072832.15 | transcript | ENST00000324989.12 | protein_coding | 1/13 | chr4 | TogoVar | ||||||
CROCC2_chr2_240901336_240998311 | 240984776 | C | CCACCACA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(115): Show |
a0002a0003a0006others(19): Show | a0002c0002a0002c0011a0002c0012others(25): Show | a0002c0002t0001a0002c0002t0002a0002c0011t0002others(30): Show | a0002c0002t0001g0057a0002c0002t0001g0060a0002c0002t0001g0083others(114): Show | 118 | 350 | 0.3371 | 7 | c.455 others(26): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 28/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CROCC2_chr2_240901336_240998311 | 240985055 | A | ACACCCAG | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(109): Show |
a0002a0003a0006others(19): Show | a0002c0002a0002c0011a0002c0012others(25): Show | a0002c0002t0001a0002c0002t0002a0002c0011t0002others(30): Show | a0002c0002t0001g0060a0002c0002t0001g0120a0002c0002t0001g0131others(108): Show | 112 | 350 | 0.3200 | 7 | c.455 others(26): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 28/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CROCC_chr1_16916931_16977964 | 16949062 | A | ACTTAGAT | intron_variant | MODIFIER | HG01168.hp1 HG02735.hp2 NA19043.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0131a0001c0003t0001g0132a0001c0003t0001g0133 | 3 | 232 | 0.0129 | 7 | c.283 others(24): Show |
CROCC | ENSG00000058453.17 | transcript | ENST00000375541.10 | protein_coding | 19/36 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CRPPA_chr7_16082525_16426538 | 16239559 | C | CAAAAAAA | intron_variant | MODIFIER | HG04199.hp1 NA18939.hp1 NA18949.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(6): Show | a0001c0001t0001g0094a0001c0001t0005g0185a0001c0001t0007g0069others(7): Show | 10 | 290 | 0.0345 | 7 | c.111 others(28): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 8/9 | chr7 | TogoVar | ||||||
CRPPA_chr7_16082525_16426538 | 16286059 | A | AGAATATT | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00735.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0010 | a0001c0001t0003g0047a0001c0001t0010g0065a0001c0001t0010g0080others(1): Show | 4 | 290 | 0.0138 | 7 | c.836 others(24): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 5/9 | chr7 | TogoVar | ||||||
CRPPA_chr7_16082525_16426538 | 16389924 | A | ATATATAT | intron_variant | MODIFIER | HG01496.hp1 NA18979.hp1 NA18984.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(1): Show | a0001c0001t0001g0094a0001c0001t0001g0110a0001c0001t0006g0078others(3): Show | 6 | 290 | 0.0207 | 7 | c.535 others(26): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 2/9 | chr7 | TogoVar | ||||||
CRTAM_chr11_122833500_122877643 | 122875436 | A | ATATATAT | downstream_gene_variant | MODIFIER | NA18961.hp2 NA18990.hp2 NA19076.hp2 others(1): Show |
a0001a0009 | a0001c0001a0009c0011 | a0001c0001t0001a0009c0011t0001 | a0001c0001t0001g0008a0001c0001t0001g0019a0001c0001t0001g0200others(1): Show | 4 | 428 | 0.0094 | 7 | c.*40 others(18): Show |
CRTAM | ENSG00000109943.9 | transcript | ENST00000227348.9 | protein_coding | 2794 | chr11 | TogoVar | ||||||
CRTAM_chr11_122833500_122877643 | 122875438 | A | ATATATAT | downstream_gene_variant | MODIFIER | HG02622.hp2 HG03942.hp2 NA18979.hp1 others(3): Show |
a0001a0006 | a0001c0001a0006c0007 | a0001c0001t0001a0006c0007t0001 | a0001c0001t0001g0008a0001c0001t0001g0112a0001c0001t0001g0116others(3): Show | 6 | 428 | 0.0140 | 7 | c.*40 others(18): Show |
CRTAM | ENSG00000109943.9 | transcript | ENST00000227348.9 | protein_coding | 2796 | chr11 | TogoVar | ||||||
CRTC1_chr19_18678680_18787333 | 18710462 | G | GGGAGCCA | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp2 others(35): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005 | a0001c0001t0001a0001c0001t0003a0002c0002t0003others(3): Show | a0001c0001t0001g0171a0001c0001t0001g0179a0001c0001t0001g0197others(35): Show | 38 | 274 | 0.1387 | 7 | c.126 others(26): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CRTC2_chr1_153942675_153963612 | 153943678 | T | TAAAAAAA | downstream_gene_variant | MODIFIER | HG00621.hp1 HG01175.hp1 HG01433.hp2 others(18): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0002a0002c0002t0002g0006a0002c0002t0002g0007others(4): Show | 21 | 370 | 0.0568 | 7 | c.*44 others(18): Show |
CRTC2 | ENSG00000160741.17 | transcript | ENST00000368633.2 | protein_coding | 3996 | chr1 | TogoVar | ||||||
CRTC3_chr15_90524923_90650345 | 90579634 | C | CTTTTTTT | intron_variant | MODIFIER | HG01258.hp2 HG02109.hp2 HG02258.hp2 others(7): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0014others(1): Show | a0001c0001t0004a0001c0001t0019a0001c0001t0040others(6): Show | a0001c0001t0004g0256a0001c0001t0019g0028a0001c0001t0040g0023others(7): Show | 10 | 276 | 0.0362 | 7 | c.232 others(26): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CRTC3_chr15_90524923_90650345 | 90626611 | C | CTTTTTTT | intron_variant | MODIFIER | HG01346.hp1 HG02055.hp2 HG02258.hp2 others(17): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0001c0015others(4): Show | a0001c0001t0007a0001c0001t0009a0001c0001t0019others(13): Show | a0001c0001t0007g0120a0001c0001t0007g0219a0001c0001t0009g0041others(17): Show | 20 | 276 | 0.0725 | 7 | c.967 others(22): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CRTC3_chr15_90524923_90650345 | 90647272 | T | TTCCACAC | downstream_gene_variant | MODIFIER | HG00438.hp2 HG01123.hp2 HG01167.hp2 others(31): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0002a0001c0001t0023a0001c0001t0024others(3): Show | a0001c0001t0002g0143a0001c0001t0002g0146a0001c0001t0002g0151others(31): Show | 34 | 276 | 0.1232 | 7 | c.*51 others(18): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 1928 | chr15 | TogoVar | ||||||
CRX_chr19_47816937_47848324 | 47824990 | A | ATTTTTTT | intron_variant | MODIFIER | HG00735.hp2 HG00738.hp2 HG01192.hp2 others(26): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0031a0001c0001t0001g0205a0001c0001t0001g0284others(24): Show | 29 | 344 | 0.0843 | 7 | c.-36 others(24): Show |
CRX | ENSG00000105392.17 | transcript | ENST00000221996.12 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CRYBA4_chr22_26616963_26635669 | 26629734 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG01069.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046a0001c0001t0001g0185a0001c0001t0001g0188others(22): Show | 26 | 402 | 0.0647 | 7 | c.444 others(22): Show |
CRYBA4 | ENSG00000196431.4 | transcript | ENST00000354760.4 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CRYBA4_chr22_26616963_26635669 | 26634230 | C | CAACAAAA | downstream_gene_variant | MODIFIER | HG01069.hp1 NA20129.hp2 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0278a0001c0001t0001g0279a0001c0001t0001g0280 | 3 | 402 | 0.0075 | 7 | c.*37 others(18): Show |
CRYBA4 | ENSG00000196431.4 | transcript | ENST00000354760.4 | protein_coding | 3562 | chr22 | TogoVar | ||||||
CRYBB1_chr22_26594278_26623027 | 26605671 | C | CAAAAAAA | intron_variant | MODIFIER | HG00544.hp1 HG00741.hp2 HG01168.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018a0001c0001t0001g0026a0001c0001t0001g0040others(10): Show | 21 | 426 | 0.0493 | 7 | c.432 others(24): Show |
CRYBB1 | ENSG00000100122.7 | transcript | ENST00000647684.1 | protein_coding | 4/5 | chr22 | TogoVar | ||||||
CRYBB2_chr22_25214639_25236869 | 25218778 | A | AAAGAAAG | upstream_gene_variant | MODIFIER | HG00423.hp2 HG00673.hp1 HG01109.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0016a0001c0001t0001g0034a0001c0002t0001g0002others(10): Show | 18 | 464 | 0.0388 | 7 | c.-91 others(16): Show |
CRYBB2 | ENSG00000244752.3 | transcript | ENST00000398215.3 | protein_coding | 860 | chr22 | TogoVar | ||||||
CRYBB2_chr22_25214639_25236869 | 25218780 | A | AAAGAAAG | upstream_gene_variant | MODIFIER | HG01981.hp2 NA18970.hp2 NA19076.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0006a0001c0001t0001g0152a0002c0003t0001g0006 | 3 | 464 | 0.0065 | 7 | c.-91 others(16): Show |
CRYBB2 | ENSG00000244752.3 | transcript | ENST00000398215.3 | protein_coding | 858 | chr22 | TogoVar | ||||||
CRYBG1_chr6_106355717_106577017 | 106483403 | A | ATATATAT | intron_variant | MODIFIER | HG02622.hp1 HG02630.hp1 HG02723.hp2 |
a0016a0063 | a0016c0023a0016c0039a0063c0075 | a0016c0023t0001a0016c0039t0001a0063c0075t0001 | a0016c0023t0001g0265a0016c0039t0001g0074a0063c0075t0001g0237 | 3 | 272 | 0.0110 | 7 | c.313 others(26): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 2/21 | chr6 | TogoVar | ||||||
CRYGC_chr2_208123137_208134828 | 208133789 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG00741.hp2 HG01074.hp2 HG02055.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0002t0001g0005others(1): Show | 8 | 444 | 0.0180 | 7 | c.-39 others(18): Show |
CRYGC | ENSG00000163254.5 | transcript | ENST00000282141.4 | protein_coding | 3962 | chr2 | TogoVar | ||||||
CRYL1_chr13_20398669_20530857 | 20420700 | G | GTTTTTTT | intron_variant | MODIFIER | HG02572.hp2 HG02647.hp2 HG02735.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0095a0001c0001t0001g0206a0001c0002t0001g0117others(2): Show | 5 | 250 | 0.0200 | 7 | c.634 others(24): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 5/7 | chr13 | TogoVar | ||||||
CRYL1_chr13_20398669_20530857 | 20456638 | A | ACACACAC | intron_variant | MODIFIER | HG00544.hp1 HG00639.hp2 HG01070.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0139a0001c0001t0001g0143a0001c0001t0001g0165others(6): Show | 9 | 250 | 0.0360 | 7 | c.277 others(26): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 3/7 | chr13 | TogoVar | ||||||
CRYM_chr16_21253521_21283290 | 21272789 | A | ACAGGCAC | intron_variant | MODIFIER | HG02165.hp2 HG03831.hp2 NA18956.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0040a0001c0001t0001g0092others(3): Show | 14 | 394 | 0.0355 | 7 | c.387 others(24): Show |
CRYM | ENSG00000103316.12 | transcript | ENST00000572914.2 | protein_coding | 3/7 | chr16 | TogoVar | ||||||
CRYZL1_chr21_33584341_33646741 | 33600932 | A | ATGTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(157): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(149): Show | 160 | 360 | 0.4444 | 7 | c.577 others(24): Show |
CRYZL1 | ENSG00000205758.12 | transcript | ENST00000381554.8 | protein_coding | 8/12 | chr21 | TogoVar | ||||||
CRYZ_chr1_74700486_74738050 | 74702928 | A | AGTGTGTG | downstream_gene_variant | MODIFIER | HG01168.hp1 HG01975.hp1 NA20129.hp1 |
a0001a0002 | a0001c0006a0002c0002 | a0001c0006t0001a0002c0002t0001 | a0001c0006t0001g0228a0002c0002t0001g0006a0002c0002t0001g0091 | 3 | 372 | 0.0081 | 7 | c.*33 others(18): Show |
CRYZ | ENSG00000116791.14 | transcript | ENST00000340866.10 | protein_coding | 2557 | chr1 | TogoVar | ||||||
CSAG2_chrX_152703261_152714273 | 152709629 | G | GAGAGAGA | upstream_gene_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 211 | 0.0047 | 7 | c.-51 others(16): Show |
CSAG2 | ENSG00000268902.4 | transcript | ENST00000638741.2 | protein_coding | 357 | chrX | TogoVar | ||||||
CSDC2_chr22_41556010_41581666 | 41562406 | C | CAAAAAAA | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00673.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(8): Show | a0001c0001t0003g0060a0001c0001t0003g0200a0001c0001t0004g0087others(14): Show | 24 | 288 | 0.0833 | 7 | c.-12 others(26): Show |
CSDC2 | ENSG00000172346.15 | transcript | ENST00000306149.12 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CSDC2_chr22_41556010_41581666 | 41568025 | T | TCGCCCAG | intron_variant | MODIFIER | HG02109.hp2 HG02615.hp2 HG02809.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0021a0001c0001t0022a0001c0001t0026 | a0001c0001t0021g0022a0001c0001t0022g0021a0001c0001t0022g0078others(1): Show | 6 | 288 | 0.0208 | 7 | c.-12 others(26): Show |
CSDC2 | ENSG00000172346.15 | transcript | ENST00000306149.12 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CSE1L_chr20_49041312_49101949 | 49085562 | A | ATTTTTTT | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG00738.hp1 others(12): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0331a0001c0002t0001g0338a0001c0002t0001g0339others(12): Show | 15 | 386 | 0.0389 | 7 | c.172 others(24): Show |
CSE1L | ENSG00000124207.17 | transcript | ENST00000262982.3 | protein_coding | 16/24 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CSE1L_chr20_49041312_49101949 | 49097938 | A | ATTTTTTT | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG01099.hp2 others(21): Show |
a0001a0006 | a0001c0001a0006c0004 | a0001c0001t0002a0001c0001t0004a0006c0004t0002 | a0001c0001t0002g0008a0001c0001t0002g0009a0001c0001t0002g0010others(21): Show | 24 | 386 | 0.0622 | 7 | c.*15 others(18): Show |
CSE1L | ENSG00000124207.17 | transcript | ENST00000262982.3 | protein_coding | 990 | chr20 | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1284195 | C | CTCTTTTT | intron_variant | MODIFIER | HG01891.hp1 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0137 | 1 | 159 | 0.0063 | 7 | c.76+ others(22): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CSF2RA_chrX_1263814_1314935 | 1287147 | C | CTTTTTTT | intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0082 | 1 | 159 | 0.0063 | 7 | c.219 others(24): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CSGALNACT1_chr8_19399161_19762277 | 19507528 | G | GAAAAAAA | intron_variant | MODIFIER | HG01070.hp1 HG02145.hp1 HG02145.hp2 others(2): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0008a0002c0003t0005 | a0001c0002t0008g0143a0001c0002t0008g0216a0001c0002t0008g0232others(2): Show | 5 | 238 | 0.0210 | 7 | c.-29 others(26): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 2/8 | chr8 | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19541553 | A | ATTTTTTT | intron_variant | MODIFIER | HG01099.hp1 HG01192.hp1 HG01361.hp1 others(8): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0002a0001c0007others(5): Show | a0001c0001t0006a0001c0001t0017a0001c0002t0022others(8): Show | a0001c0001t0006g0005a0001c0001t0017g0121a0001c0002t0022g0169others(8): Show | 11 | 238 | 0.0462 | 7 | c.-29 others(28): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 2/8 | chr8 | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19649819 | C | CAAAAAAA | intron_variant | MODIFIER | HG01069.hp1 HG02615.hp2 HG02630.hp2 others(2): Show |
a0001a0002a0009 | a0001c0001a0002c0003a0009c0020 | a0001c0001t0001a0002c0003t0005a0002c0003t0007others(2): Show | a0001c0001t0001g0198a0002c0003t0005g0076a0002c0003t0007g0179others(2): Show | 5 | 238 | 0.0210 | 7 | c.-39 others(28): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19716612 | C | CAAAAAAA | intron_variant | MODIFIER | HG02015.hp1 HG02145.hp2 HG02155.hp1 others(3): Show |
a0001a0002a0007 | a0001c0001a0002c0003a0002c0008others(1): Show | a0001c0001t0001a0002c0003t0005a0002c0008t0003others(1): Show | a0001c0001t0001g0061a0001c0001t0001g0062a0002c0003t0005g0052others(3): Show | 6 | 238 | 0.0252 | 7 | c.-39 others(28): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19755456 | C | CAAAAAAA | intron_variant | MODIFIER | HG00438.hp1 HG00673.hp1 HG02074.hp1 others(16): Show |
a0001a0002a0008 | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(9): Show | a0001c0001t0001g0134a0001c0001t0001g0137a0001c0001t0001g0138others(16): Show | 19 | 238 | 0.0798 | 7 | c.-39 others(26): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 2994145 | C | CAAAAAAA | intron_variant | MODIFIER | HG01884.hp1 HG02615.hp2 HG02622.hp2 others(2): Show |
a0001a0010a0011others(1): Show | a0001c0004a0001c0046a0010c0112others(2): Show | a0001c0004t0063a0001c0046t0073a0010c0112t0081others(2): Show | a0001c0004t0063g0095a0001c0046t0073g0091a0010c0112t0081g0090others(2): Show | 5 | 126 | 0.0397 | 7 | c.837 others(26): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 54/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3218560 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG01081.hp2 HG01123.hp2 others(14): Show |
a0001a0002a0003others(8): Show | a0001c0002a0001c0003a0001c0005others(14): Show | a0001c0002t0028a0001c0003t0008a0001c0005t0007others(14): Show | a0001c0002t0028g0005a0001c0003t0008g0053a0001c0005t0007g0070others(14): Show | 17 | 126 | 0.1349 | 7 | c.467 others(24): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 29/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3394000 | T | TAATAATA | intron_variant | MODIFIER | HG00423.hp1 HG00735.hp1 HG00735.hp2 others(39): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0004a0001c0007others(36): Show | a0001c0001t0002a0001c0001t0039a0001c0004t0020others(38): Show | a0001c0001t0002g0102a0001c0001t0002g0125a0001c0001t0039g0017others(39): Show | 42 | 126 | 0.3333 | 7 | c.259 others(26): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 17/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3741250 | A | AGAAGAAG | intron_variant | MODIFIER | HG01243.hp1 HG02257.hp1 HG02965.hp2 |
a0005a0007a0038 | a0005c0064a0007c0088a0038c0066 | a0005c0064t0051a0007c0088t0076a0038c0066t0010 | a0005c0064t0051g0078a0007c0088t0076g0057a0038c0066t0010g0032 | 3 | 126 | 0.0238 | 7 | c.931 others(26): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 6/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3752676 | C | CAAAAAAA | intron_variant | MODIFIER | HG01123.hp1 HG02056.hp1 HG02257.hp1 others(2): Show |
a0001a0007a0008others(1): Show | a0001c0002a0001c0050a0007c0088others(2): Show | a0001c0002t0002a0001c0050t0053a0007c0088t0076others(2): Show | a0001c0002t0002g0083a0001c0050t0053g0120a0007c0088t0076g0057others(2): Show | 5 | 126 | 0.0397 | 7 | c.931 others(24): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 6/69 | chr8 | TogoVar |