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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ALK_chr2_29187774_29926586 | 29908280 | G | GCA | intron_variant | MODIFIER | HG01433.hp2 HG03139.hp2 |
a0003a0006 | a0003c0026a0006c0029 | a0003c0026t0002a0006c0029t0001 | a0003c0026t0002g0015a0006c0029t0001g0016 | 2 | 80 | 0.0250 | 2 | c.667 others(21): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29909480 | C | CAG | intron_variant | MODIFIER | HG01074.hp2 HG02145.hp2 HG02257.hp2 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0004a0001c0006a0001c0022others(6): Show | a0001c0004t0001a0001c0006t0001a0001c0022t0001others(6): Show | a0001c0004t0001g0037a0001c0006t0001g0036a0001c0022t0001g0007others(6): Show | 9 | 80 | 0.1125 | 2 | c.667 others(21): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29909979 | C | CAA | intron_variant | MODIFIER | HG00738.hp2 HG01106.hp1 HG01123.hp2 others(20): Show |
a0001a0002a0003others(2): Show | a0001c0004a0001c0006a0001c0009others(16): Show | a0001c0004t0001a0001c0006t0001a0001c0009t0005others(16): Show | a0001c0004t0001g0021a0001c0006t0001g0026a0001c0009t0005g0018others(20): Show | 23 | 80 | 0.2875 | 2 | c.667 others(21): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALLC_chr2_3653200_3707671 | 3658876 | C | CAA | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00639.hp2 others(33): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(5): Show | a0001c0001t0001g0227a0001c0001t0001g0231a0001c0001t0001g0232others(29): Show | 36 | 274 | 0.1314 | 2 | c.-63 others(17): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALLC_chr2_3653200_3707671 | 3668566 | C | CTT | intron_variant | MODIFIER | HG01884.hp2 HG03209.hp2 HG03453.hp2 others(2): Show |
a0001a0002a0006 | a0001c0001a0002c0015a0006c0006 | a0001c0001t0001a0002c0015t0002a0006c0006t0001 | a0001c0001t0001g0148a0001c0001t0001g0261a0002c0015t0002g0053others(2): Show | 5 | 274 | 0.0183 | 2 | c.-62 others(19): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALLC_chr2_3653200_3707671 | 3675387 | C | CAA | intron_variant | MODIFIER | HG02647.hp2 HG02886.hp1 HG02897.hp2 others(3): Show |
a0002a0003 | a0002c0002a0002c0005a0002c0009others(1): Show | a0002c0002t0002a0002c0005t0002a0002c0009t0002others(1): Show | a0002c0002t0002g0240a0002c0002t0002g0241a0002c0005t0002g0012others(3): Show | 6 | 274 | 0.0219 | 2 | c.84+ others(17): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALLC_chr2_3653200_3707671 | 3675583 | C | CAT | intron_variant | MODIFIER | HG00280.hp1 HG00733.hp2 HG01346.hp1 others(25): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0012a0002c0002others(2): Show | a0001c0001t0002a0001c0012t0002a0002c0002t0002others(3): Show | a0001c0001t0002g0217a0001c0012t0002g0244a0002c0002t0002g0001others(21): Show | 28 | 274 | 0.1022 | 2 | c.84+ others(17): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALLC_chr2_3653200_3707671 | 3675595 | T | TAC | intron_variant | MODIFIER | HG02886.hp1 HG02970.hp1 NA19043.hp2 |
a0002 | a0002c0005a0002c0009 | a0002c0005t0002a0002c0009t0002 | a0002c0005t0002g0012a0002c0005t0002g0041a0002c0009t0002g0013 | 3 | 274 | 0.0110 | 2 | c.84+ others(17): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALLC_chr2_3653200_3707671 | 3675599 | T | TAC | intron_variant | MODIFIER | HG00735.hp2 HG01516.hp1 HG01517.hp2 others(2): Show |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0152a0003c0003t0002g0183a0003c0003t0002g0188others(2): Show | 5 | 274 | 0.0183 | 2 | c.84+ others(17): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALLC_chr2_3653200_3707671 | 3676780 | T | TTC | intron_variant | MODIFIER | HG00639.hp1 HG01081.hp1 HG01109.hp1 others(44): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0015others(3): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(7): Show | a0001c0001t0001g0028a0001c0001t0001g0141a0001c0001t0001g0142others(43): Show | 47 | 274 | 0.1715 | 2 | c.85- others(17): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALLC_chr2_3653200_3707671 | 3685447 | C | CAG | intron_variant | MODIFIER | HG01081.hp2 HG02071.hp1 HG02148.hp2 |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0002 | a0003c0003t0001g0228a0003c0003t0001g0229a0003c0003t0002g0209 | 3 | 274 | 0.0110 | 2 | c.511 others(19): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALLC_chr2_3653200_3707671 | 3690374 | T | TCC | intron_variant | MODIFIER | HG01081.hp2 HG02071.hp1 HG02148.hp2 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0005a0003c0003others(1): Show | a0001c0001t0001a0002c0005t0001a0002c0005t0002others(3): Show | a0001c0001t0001g0028a0002c0005t0001g0235a0002c0005t0001g0236others(8): Show | 11 | 274 | 0.0402 | 2 | c.512 others(19): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALLC_chr2_3653200_3707671 | 3704549 | C | CAG | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp2 others(145): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0002a0002c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(20): Show | a0001c0001t0001g0006a0001c0001t0001g0028a0001c0001t0001g0050others(140): Show | 148 | 274 | 0.5402 | 2 | c.*19 others(13): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 1879 | chr2 | TogoVar | ||||||
ALLC_chr2_3653200_3707671 | 3704709 | A | AGG | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG01106.hp1 others(15): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0012a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0028a0001c0001t0001g0069a0001c0001t0001g0092others(15): Show | 18 | 274 | 0.0657 | 2 | c.*21 others(13): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 2039 | chr2 | TogoVar | ||||||
ALLC_chr2_3653200_3707671 | 3706549 | T | TGC | downstream_gene_variant | MODIFIER | HG02145.hp2 HG02451.hp2 HG03453.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0182a0002c0002t0002g0238a0002c0002t0002g0242 | 3 | 274 | 0.0110 | 2 | c.*39 others(13): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 3879 | chr2 | TogoVar | ||||||
ALLC_chr2_3653200_3707671 | 3706553 | C | CGT | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp2 others(129): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0002c0005others(7): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(13): Show | a0001c0001t0001g0006a0001c0001t0001g0028a0001c0001t0001g0050others(124): Show | 132 | 274 | 0.4818 | 2 | c.*39 others(13): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 3883 | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73381369 | C | CAA | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(149): Show |
a0002a0003a0004others(35): Show | a0002c0004a0002c0011a0002c0023others(49): Show | a0002c0004t0001a0002c0011t0001a0002c0023t0001others(49): Show | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(149): Show | 152 | 248 | 0.6129 | 2 | c.-45 others(13): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 4466 | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73395044 | G | GTA | intron_variant | MODIFIER | HG02886.hp2 NA19240.hp2 NA20129.hp1 |
a0021a0043 | a0021c0029a0043c0062 | a0021c0029t0001a0043c0062t0001 | a0021c0029t0001g0119a0021c0029t0001g0121a0043c0062t0001g0120 | 3 | 248 | 0.0121 | 2 | c.324 others(19): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73395060 | G | GTA | intron_variant | MODIFIER | HG00280.hp1 HG02056.hp2 NA18950.hp2 others(2): Show |
a0001a0007a0015others(1): Show | a0001c0001a0007c0006a0015c0015others(1): Show | a0001c0001t0001a0007c0006t0001a0015c0015t0001others(1): Show | a0001c0001t0001g0126a0007c0006t0001g0131a0015c0015t0001g0181others(2): Show | 5 | 248 | 0.0202 | 2 | c.324 others(19): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73396303 | T | TAC | intron_variant | MODIFIER | HG00609.hp1 HG00609.hp2 HG00735.hp2 others(31): Show |
a0001a0003a0005others(10): Show | a0001c0001a0003c0002a0005c0005others(10): Show | a0001c0001t0001a0003c0002t0001a0005c0005t0001others(11): Show | a0001c0001t0001g0124a0001c0001t0001g0125a0001c0001t0001g0126others(31): Show | 34 | 248 | 0.1371 | 2 | c.324 others(21): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73396309 | C | CAT | intron_variant | MODIFIER | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(7): Show |
a0002a0004a0008others(2): Show | a0002c0041a0004c0053a0008c0008others(2): Show | a0002c0041t0001a0004c0053t0002a0008c0008t0001others(2): Show | a0002c0041t0001g0094a0004c0053t0002g0050a0008c0008t0001g0231others(7): Show | 10 | 248 | 0.0403 | 2 | c.324 others(21): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73396550 | C | CTT | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(98): Show |
a0001a0002a0004others(23): Show | a0001c0001a0002c0004a0002c0011others(36): Show | a0001c0001t0001a0002c0004t0001a0002c0011t0001others(36): Show | a0001c0001t0001g0167a0001c0001t0001g0176a0001c0001t0001g0213others(98): Show | 101 | 248 | 0.4073 | 2 | c.324 others(21): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73406436 | G | GTT | intron_variant | MODIFIER | HG01099.hp2 HG01884.hp2 HG02145.hp1 others(8): Show |
a0006a0026 | a0006c0007a0006c0010a0026c0057 | a0006c0007t0001a0006c0010t0001a0026c0057t0001 | a0006c0007t0001g0098a0006c0007t0001g0099a0006c0007t0001g0100others(8): Show | 11 | 248 | 0.0444 | 2 | c.325 others(19): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73408864 | C | CTT | intron_variant | MODIFIER | HG00609.hp1 HG01433.hp1 HG02071.hp1 others(7): Show |
a0001a0007a0058 | a0001c0001a0007c0006a0058c0074 | a0001c0001t0001a0007c0006t0001a0058c0074t0001 | a0001c0001t0001g0095a0001c0001t0001g0138a0001c0001t0001g0143others(7): Show | 10 | 248 | 0.0403 | 2 | c.450 others(17): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73467117 | C | CTA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(208): Show |
a0001a0002a0004others(48): Show | a0001c0001a0001c0066a0002c0004others(65): Show | a0001c0001t0001a0001c0001t0004a0001c0066t0001others(67): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(208): Show | 211 | 248 | 0.8508 | 2 | c.767 others(23): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73471493 | C | CAA | intron_variant | MODIFIER | HG01175.hp2 HG01993.hp2 HG02055.hp1 others(2): Show |
a0001a0002a0007others(1): Show | a0001c0001a0002c0020a0002c0040others(2): Show | a0001c0001t0001a0002c0020t0001a0002c0040t0001others(2): Show | a0001c0001t0001g0154a0002c0020t0001g0208a0002c0040t0001g0206others(2): Show | 5 | 248 | 0.0202 | 2 | c.767 others(23): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73473920 | A | AAG | intron_variant | MODIFIER | HG01361.hp1 HG02615.hp2 HG02647.hp1 others(4): Show |
a0004a0011a0012others(1): Show | a0004c0003a0011c0022a0012c0012others(1): Show | a0004c0003t0002a0011c0022t0001a0012c0012t0001others(1): Show | a0004c0003t0002g0080a0011c0022t0001g0199a0012c0012t0001g0202others(4): Show | 7 | 248 | 0.0282 | 2 | c.767 others(23): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73474371 | C | CTG | intron_variant | MODIFIER | HG02071.hp2 HG02698.hp2 HG03017.hp1 others(18): Show |
a0003a0022a0040others(1): Show | a0003c0002a0022c0028a0040c0036others(1): Show | a0003c0002t0001a0022c0028t0001a0040c0036t0001others(1): Show | a0003c0002t0001g0008a0003c0002t0001g0011a0003c0002t0001g0012others(18): Show | 21 | 248 | 0.0847 | 2 | c.767 others(23): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73474403 | G | GTC | intron_variant | MODIFIER | HG01069.hp2 HG01070.hp2 HG01109.hp2 others(24): Show |
a0004a0020a0029others(3): Show | a0004c0003a0004c0043a0020c0019others(4): Show | a0004c0003t0002a0004c0043t0002a0020c0019t0002others(4): Show | a0004c0003t0002g0064a0004c0003t0002g0065a0004c0003t0002g0066others(24): Show | 27 | 248 | 0.1089 | 2 | c.767 others(23): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73474405 | G | GTC | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(67): Show |
a0001a0006a0007others(13): Show | a0001c0001a0006c0007a0006c0010others(14): Show | a0001c0001t0001a0001c0001t0004a0006c0007t0001others(16): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(67): Show | 70 | 248 | 0.2823 | 2 | c.767 others(23): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73493346 | T | TAC | intron_variant | MODIFIER | HG00609.hp2 HG00621.hp1 HG01192.hp1 others(11): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0004a0003c0002others(6): Show | a0001c0001t0001a0002c0004t0001a0003c0002t0001others(6): Show | a0001c0001t0001g0124a0001c0001t0001g0125a0001c0001t0001g0134others(11): Show | 14 | 248 | 0.0565 | 2 | c.953 others(21): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73498511 | T | TTG | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(72): Show |
a0001a0002a0004others(16): Show | a0001c0001a0002c0004a0002c0011others(25): Show | a0001c0001t0001a0002c0004t0001a0002c0011t0001others(25): Show | a0001c0001t0001g0124a0001c0001t0001g0143a0002c0004t0001g0005others(72): Show | 75 | 248 | 0.3024 | 2 | c.953 others(21): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73508207 | C | CTT | intron_variant | MODIFIER | HG02486.hp2 HG02622.hp1 HG02647.hp1 others(8): Show |
a0002a0011a0031others(1): Show | a0002c0004a0002c0023a0002c0054others(5): Show | a0002c0004t0001a0002c0023t0001a0002c0054t0001others(5): Show | a0002c0004t0001g0005a0002c0023t0001g0195a0002c0023t0001g0196others(8): Show | 11 | 248 | 0.0444 | 2 | c.954 others(23): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73515768 | T | TAC | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00621.hp1 others(18): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0004a0002c0011others(10): Show | a0001c0001t0001a0002c0004t0001a0002c0011t0001others(10): Show | a0001c0001t0001g0134a0002c0004t0001g0239a0002c0011t0001g0004others(18): Show | 21 | 248 | 0.0847 | 2 | c.954 others(21): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73556642 | T | TTG | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG02257.hp1 others(16): Show |
a0002a0004a0014others(3): Show | a0002c0004a0002c0047a0004c0043others(6): Show | a0002c0004t0001a0002c0047t0001a0004c0043t0002others(6): Show | a0002c0004t0001g0005a0002c0004t0001g0034a0002c0004t0001g0035others(16): Show | 19 | 248 | 0.0766 | 2 | c.100 others(21): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 13/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73559314 | C | CTA | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(86): Show |
a0002a0004a0009others(20): Show | a0002c0004a0002c0011a0002c0020others(34): Show | a0002c0004t0001a0002c0011t0001a0002c0020t0001others(34): Show | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(86): Show | 89 | 248 | 0.3589 | 2 | c.103 others(21): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73564465 | C | CAA | intron_variant | MODIFIER | HG02055.hp2 HG02886.hp2 NA18941.hp2 others(3): Show |
a0003a0017a0021 | a0003c0002a0017c0017a0021c0029 | a0003c0002t0001a0017c0017t0003a0021c0029t0001 | a0003c0002t0001g0011a0003c0002t0001g0020a0003c0002t0001g0021others(3): Show | 6 | 248 | 0.0242 | 2 | c.103 others(23): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73568995 | C | CTT | intron_variant | MODIFIER | HG00642.hp1 HG01261.hp1 HG01346.hp1 others(19): Show |
a0001a0005a0007others(6): Show | a0001c0001a0005c0005a0007c0006others(6): Show | a0001c0001t0001a0005c0005t0001a0007c0006t0001others(6): Show | a0001c0001t0001g0125a0001c0001t0001g0132a0001c0001t0001g0137others(19): Show | 22 | 248 | 0.0887 | 2 | c.103 others(23): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73594252 | G | GAC | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(82): Show |
a0002a0004a0009others(19): Show | a0002c0004a0002c0011a0002c0023others(31): Show | a0002c0004t0001a0002c0011t0001a0002c0023t0001others(31): Show | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(82): Show | 85 | 248 | 0.3427 | 2 | c.115 others(23): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73596860 | C | CTT | intron_variant | MODIFIER | HG01192.hp2 HG02622.hp2 HG02683.hp1 others(5): Show |
a0001a0004a0009others(3): Show | a0001c0001a0004c0053a0009c0026others(3): Show | a0001c0001t0001a0004c0053t0002a0009c0026t0001others(3): Show | a0001c0001t0001g0175a0001c0001t0001g0176a0001c0001t0001g0219others(5): Show | 8 | 248 | 0.0323 | 2 | c.115 others(23): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALOX12B_chr17_8067636_8092716 | 8087259 | G | GAC | intron_variant | MODIFIER | HG00423.hp1 HG01358.hp1 HG01496.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0034a0001c0001t0001g0219a0001c0001t0001g0220others(2): Show | 7 | 462 | 0.0152 | 2 | c.147 others(15): Show |
ALOX12B | ENSG00000179477.11 | transcript | ENST00000647874.1 | protein_coding | 1/14 | chr17 | TogoVar | ||||||
ALOX12_chr17_6991049_7015754 | 6991972 | A | AAC | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(159): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0003a0001c0006others(8): Show | a0001c0001t0001a0001c0003t0001a0001c0006t0001others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0010others(87): Show | 162 | 404 | 0.4010 | 2 | c.-41 others(13): Show |
ALOX12 | ENSG00000108839.12 | transcript | ENST00000251535.11 | protein_coding | 4076 | chr17 | TogoVar | ||||||
ALOX12_chr17_6991049_7015754 | 6994778 | A | ATT | upstream_gene_variant | MODIFIER | HG02135.hp2 HG03453.hp1 HG04115.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0007 | a0001c0001t0001a0001c0003t0001a0001c0007t0001 | a0001c0001t0001g0001a0001c0001t0001g0172a0001c0003t0001g0003others(1): Show | 4 | 404 | 0.0099 | 2 | c.-13 others(13): Show |
ALOX12 | ENSG00000108839.12 | transcript | ENST00000251535.11 | protein_coding | 1270 | chr17 | TogoVar | ||||||
ALOX12_chr17_6991049_7015754 | 7000952 | C | CTT | intron_variant | MODIFIER | HG00639.hp1 HG02109.hp1 HG02486.hp2 others(17): Show |
a0001a0004a0009 | a0001c0001a0001c0009a0004c0010others(1): Show | a0001c0001t0001a0001c0009t0001a0004c0010t0001others(1): Show | a0001c0001t0001g0007a0001c0001t0001g0057a0001c0001t0001g0058others(10): Show | 20 | 404 | 0.0495 | 2 | c.951 others(17): Show |
ALOX12 | ENSG00000108839.12 | transcript | ENST00000251535.11 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ALOX12_chr17_6991049_7015754 | 7004079 | A | ATT | intron_variant | MODIFIER | HG01243.hp2 HG02970.hp1 NA18522.hp2 others(2): Show |
a0001 | a0001c0001a0001c0016 | a0001c0001t0001a0001c0016t0001 | a0001c0001t0001g0032a0001c0001t0001g0192a0001c0016t0001g0191 | 5 | 404 | 0.0124 | 2 | c.116 others(21): Show |
ALOX12 | ENSG00000108839.12 | transcript | ENST00000251535.11 | protein_coding | 8/13 | chr17 | TogoVar | ||||||
ALOX12_chr17_6991049_7015754 | 7005474 | C | CTT | intron_variant | MODIFIER | HG00621.hp1 HG01109.hp1 HG01243.hp1 others(34): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0001c0007others(6): Show | a0001c0001t0001a0001c0006t0001a0001c0007t0001others(6): Show | a0001c0001t0001g0019a0001c0001t0001g0032a0001c0001t0001g0055others(27): Show | 37 | 404 | 0.0916 | 2 | c.124 others(19): Show |
ALOX12 | ENSG00000108839.12 | transcript | ENST00000251535.11 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ALOX12_chr17_6991049_7015754 | 7006054 | T | TGG | intron_variant | MODIFIER | HG00423.hp2 HG02723.hp2 HG03453.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029a0001c0001t0001g0039a0001c0001t0001g0173 | 6 | 404 | 0.0149 | 2 | c.141 others(17): Show |
ALOX12 | ENSG00000108839.12 | transcript | ENST00000251535.11 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ALOX12_chr17_6991049_7015754 | 7006057 | G | GGT | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00544.hp1 others(96): Show |
a0001a0002 | a0001c0001a0001c0011a0002c0002others(1): Show | a0001c0001t0001a0001c0011t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0019a0001c0001t0001g0030others(34): Show | 99 | 404 | 0.2451 | 2 | c.141 others(17): Show |
ALOX12 | ENSG00000108839.12 | transcript | ENST00000251535.11 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ALOX12_chr17_6991049_7015754 | 7009062 | G | GTT | intron_variant | MODIFIER | HG01099.hp1 HG01175.hp1 HG02300.hp1 others(4): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0046a0001c0003t0001g0047a0001c0003t0001g0154others(2): Show | 7 | 404 | 0.0173 | 2 | c.154 others(19): Show |
ALOX12 | ENSG00000108839.12 | transcript | ENST00000251535.11 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ALOX12_chr17_6991049_7015754 | 7011464 | C | CTT | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00609.hp2 others(69): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0018 | a0001c0001t0001a0002c0002t0001a0002c0002t0003others(2): Show | a0001c0001t0001g0134a0001c0001t0001g0170a0002c0002t0001g0005others(46): Show | 72 | 404 | 0.1782 | 2 | c.*10 others(13): Show |
ALOX12 | ENSG00000108839.12 | transcript | ENST00000251535.11 | protein_coding | 711 | chr17 | TogoVar |