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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GABRG1_chr4_46030769_46129054 | 46128321 | G | GATATATA others(19): Show |
upstream_gene_variant | MODIFIER | HG02257.hp1 HG02280.hp1 HG02451.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0008 | a0001c0002t0004g0017a0001c0002t0004g0023a0001c0002t0004g0026others(3): Show | 6 | 308 | 0.0195 | 26 | c.-44 others(37): Show |
GABRG1 | ENSG00000163285.8 | transcript | ENST00000295452.5 | protein_coding | 4268 | chr4 | TogoVar | ||||||
GABRG3_chr15_26966181_27546984 | 27265882 | G | GTTTTTTT others(19): Show |
intron_variant | MODIFIER | HG02809.hp2 HG02922.hp1 |
a0001 | a0001c0002a0001c0008 | a0001c0002t0026a0001c0008t0008 | a0001c0002t0026g0070a0001c0008t0008g0001 | 2 | 92 | 0.0217 | 26 | c.271 others(45): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GABRG3_chr15_26966181_27546984 | 27306979 | A | AATATAAA others(19): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 92 | 0.0109 | 26 | c.271 others(45): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GABRG3_chr15_26966181_27546984 | 27307366 | T | TAGGTTTA others(19): Show |
intron_variant | MODIFIER | HG03139.hp1 HG03195.hp2 NA21309.hp2 |
a0001 | a0001c0001a0001c0004a0001c0006 | a0001c0001t0021a0001c0004t0010a0001c0006t0003 | a0001c0001t0021g0072a0001c0004t0010g0075a0001c0006t0003g0069 | 3 | 92 | 0.0326 | 26 | c.271 others(45): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GABRG3_chr15_26966181_27546984 | 27307728 | A | AATATATA others(19): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01891.hp1 HG02717.hp2 others(2): Show |
a0001 | a0001c0001a0001c0012a0001c0014others(2): Show | a0001c0001t0028a0001c0012t0003a0001c0014t0024others(2): Show | a0001c0001t0028g0054a0001c0012t0003g0068a0001c0014t0024g0057others(2): Show | 5 | 92 | 0.0544 | 26 | c.271 others(45): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GABRG3_chr15_26966181_27546984 | 27388363 | A | AGGAAGGA others(19): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0022 | 1 | 92 | 0.0109 | 26 | c.574 others(45): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GADL1_chr3_30721197_30899661 | 30805734 | C | CTTTTTTT others(19): Show |
intron_variant | MODIFIER | HG03130.hp1 HG04115.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0251a0001c0001t0003g0208 | 2 | 282 | 0.0071 | 26 | c.105 others(45): Show |
GADL1 | ENSG00000144644.15 | transcript | ENST00000282538.10 | protein_coding | 11/14 | chr3 | TogoVar | ||||||
GADL1_chr3_30721197_30899661 | 30867423 | C | CATATATA others(19): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0213 | 1 | 282 | 0.0036 | 26 | c.38- others(41): Show |
GADL1 | ENSG00000144644.15 | transcript | ENST00000282538.10 | protein_coding | 1/14 | chr3 | TogoVar | ||||||
GADL1_chr3_30721197_30899661 | 30867439 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0268 | 1 | 282 | 0.0036 | 26 | c.38- others(41): Show |
GADL1 | ENSG00000144644.15 | transcript | ENST00000282538.10 | protein_coding | 1/14 | chr3 | TogoVar | ||||||
GADL1_chr3_30721197_30899661 | 30867439 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01256.hp2 HG01346.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0092a0001c0001t0001g0093a0001c0001t0001g0251others(10): Show | 13 | 282 | 0.0461 | 26 | c.38- others(41): Show |
GADL1 | ENSG00000144644.15 | transcript | ENST00000282538.10 | protein_coding | 1/14 | chr3 | TogoVar | ||||||
GADL1_chr3_30721197_30899661 | 30895247 | T | TTGTGTGT others(19): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 HG00642.hp2 HG01074.hp2 others(33): Show |
a0001a0003a0006 | a0001c0001a0003c0004a0006c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0023a0001c0001t0001g0024a0001c0001t0001g0025others(33): Show | 36 | 282 | 0.1277 | 26 | c.-63 others(35): Show |
GADL1 | ENSG00000144644.15 | transcript | ENST00000282538.10 | protein_coding | 587 | chr3 | TogoVar | ||||||
GAL3ST4_chr7_100154244_100173617 | 100171138 | T | TGAATGAA others(19): Show |
upstream_gene_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 402 | 0.0025 | 26 | c.-28 others(37): Show |
GAL3ST4 | ENSG00000197093.11 | transcript | ENST00000360039.9 | protein_coding | 2522 | chr7 | TogoVar | ||||||
GAL3ST4_chr7_100154244_100173617 | 100172649 | A | ATGTGTGT others(19): Show |
upstream_gene_variant | MODIFIER | HG02451.hp2 HG02896.hp2 HG03225.hp1 others(1): Show |
a0002a0010 | a0002c0003a0010c0010 | a0002c0003t0003a0010c0010t0001 | a0002c0003t0003g0057a0002c0003t0003g0073a0002c0003t0003g0080others(1): Show | 4 | 402 | 0.0100 | 26 | c.-43 others(37): Show |
GAL3ST4 | ENSG00000197093.11 | transcript | ENST00000360039.9 | protein_coding | 4033 | chr7 | TogoVar | ||||||
GAL3ST4_chr7_100154244_100173617 | 100172685 | G | GTATATAT others(19): Show |
upstream_gene_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0052 | 1 | 402 | 0.0025 | 26 | c.-43 others(37): Show |
GAL3ST4 | ENSG00000197093.11 | transcript | ENST00000360039.9 | protein_coding | 4069 | chr7 | TogoVar | ||||||
GALC_chr14_87928014_87998182 | 87936896 | C | CTATATAT others(19): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02615.hp1 NA18906.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0011 | a0001c0001t0001a0002c0011t0002 | a0001c0001t0001g0102a0001c0001t0001g0227a0001c0001t0001g0252others(4): Show | 7 | 370 | 0.0189 | 26 | c.191 others(45): Show |
GALC | ENSG00000054983.17 | transcript | ENST00000261304.7 | protein_coding | 16/16 | chr14 | TogoVar | ||||||
GALK2_chr15_49165247_49336882 | 49228682 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02895.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0016 | a0001c0001t0002g0050a0001c0001t0002g0051a0001c0001t0016g0049 | 3 | 348 | 0.0086 | 26 | c.267 others(43): Show |
GALK2 | ENSG00000156958.15 | transcript | ENST00000560031.6 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GALK2_chr15_49165247_49336882 | 49228682 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0055 | 1 | 348 | 0.0029 | 26 | c.267 others(43): Show |
GALK2 | ENSG00000156958.15 | transcript | ENST00000560031.6 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GALK2_chr15_49165247_49336882 | 49228687 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0183 | 1 | 348 | 0.0029 | 26 | c.267 others(43): Show |
GALK2 | ENSG00000156958.15 | transcript | ENST00000560031.6 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GALM_chr2_38661114_38739765 | 38702932 | T | TTATATAT others(19): Show |
intron_variant | MODIFIER | HG03139.hp1 HG03209.hp2 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0006 | a0002c0002t0002g0190a0002c0002t0006g0060 | 2 | 328 | 0.0061 | 26 | c.634 others(45): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GALM_chr2_38661114_38739765 | 38703054 | T | TTATATAT others(19): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0311 | 1 | 328 | 0.0031 | 26 | c.634 others(45): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GALNT10_chr5_154185733_154425984 | 154330908 | G | GGTGTGTG others(19): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0108 | 1 | 236 | 0.0042 | 26 | c.568 others(43): Show |
GALNT10 | ENSG00000164574.16 | transcript | ENST00000297107.11 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
GALNT11_chr7_152020674_152127340 | 152113712 | C | CTTTTTTT others(19): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 284 | 0.0035 | 26 | c.123 others(43): Show |
GALNT11 | ENSG00000178234.13 | transcript | ENST00000430044.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GALNT13_chr2_153866922_154458979 | 153884766 | A | AATATATA others(19): Show |
intron_variant | MODIFIER | HG03017.hp2 HG03688.hp2 NA18947.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0009a0001c0001t0011others(1): Show | a0001c0001t0005g0121a0001c0001t0005g0123a0001c0001t0005g0125others(3): Show | 6 | 214 | 0.0280 | 26 | c.-17 others(47): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GALNT13_chr2_153866922_154458979 | 154014635 | C | CTTTTTTT others(19): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01243.hp1 HG01257.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008a0001c0001t0015others(1): Show | a0001c0001t0003g0020a0001c0001t0008g0019a0001c0001t0008g0030others(3): Show | 6 | 214 | 0.0280 | 26 | c.142 others(45): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GALNT13_chr2_153866922_154458979 | 154269906 | G | GTATATAT others(19): Show |
intron_variant | MODIFIER | HG00280.hp2 HG02040.hp1 HG03139.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0012a0001c0001t0033others(1): Show | a0001c0001t0008g0042a0001c0001t0012g0181a0001c0001t0033g0061others(1): Show | 4 | 214 | 0.0187 | 26 | c.975 others(45): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GALNT13_chr2_153866922_154458979 | 154269906 | G | GTGTATAT others(19): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0020 | 1 | 214 | 0.0047 | 26 | c.975 others(45): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GALNT13_chr2_153866922_154458979 | 154298797 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02615.hp2 HG03486.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0011a0001c0001t0023a0002c0002t0038 | a0001c0001t0011g0093a0001c0001t0023g0012a0002c0002t0038g0113 | 3 | 214 | 0.0140 | 26 | c.976 others(43): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GALNT13_chr2_153866922_154458979 | 154310941 | C | CATATATA others(19): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00735.hp1 others(82): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(42): Show | a0001c0001t0001g0027a0001c0001t0002g0106a0001c0001t0003g0004others(82): Show | 85 | 214 | 0.3972 | 26 | c.115 others(45): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GALNT13_chr2_153866922_154458979 | 154310941 | C | CATATATA others(19): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0050 | a0001c0001t0050g0155 | 1 | 214 | 0.0047 | 26 | c.115 others(45): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GALNT13_chr2_153866922_154458979 | 154310978 | A | ATAGAATA others(19): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01261.hp2 HG02523.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0005a0001c0001t0009others(6): Show | a0001c0001t0002g0146a0001c0001t0005g0101a0001c0001t0009g0126others(8): Show | 11 | 214 | 0.0514 | 26 | c.115 others(45): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GALNT13_chr2_153866922_154458979 | 154310978 | A | ATAGAATA others(19): Show |
intron_variant | MODIFIER | HG02622.hp1 HG03195.hp2 NA18959.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0026a0001c0001t0057a0001c0001t0066 | a0001c0001t0026g0184a0001c0001t0026g0185a0001c0001t0057g0150others(1): Show | 4 | 214 | 0.0187 | 26 | c.115 others(45): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GALNT14_chr2_30905467_31143440 | 30977092 | C | CTTTTTTT others(19): Show |
intron_variant | MODIFIER | HG01928.hp1 HG03491.hp2 NA18991.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0002c0003t0001 | a0001c0001t0001g0065a0001c0001t0002g0224a0002c0003t0001g0043 | 3 | 226 | 0.0133 | 26 | c.300 others(45): Show |
GALNT14 | ENSG00000158089.15 | transcript | ENST00000349752.10 | protein_coding | 2/14 | chr2 | TogoVar | ||||||
GALNT14_chr2_30905467_31143440 | 30989559 | C | CATATATA others(19): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0003 | a0003c0008 | a0003c0008t0001 | a0003c0008t0001g0083 | 1 | 226 | 0.0044 | 26 | c.299 others(43): Show |
GALNT14 | ENSG00000158089.15 | transcript | ENST00000349752.10 | protein_coding | 2/14 | chr2 | TogoVar | ||||||
GALNT14_chr2_30905467_31143440 | 30989579 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG03491.hp2 HG03492.hp1 HG03704.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0005t0001 | a0001c0001t0002g0223a0001c0001t0002g0224a0001c0005t0001g0104 | 3 | 226 | 0.0133 | 26 | c.299 others(43): Show |
GALNT14 | ENSG00000158089.15 | transcript | ENST00000349752.10 | protein_coding | 2/14 | chr2 | TogoVar | ||||||
GALNT14_chr2_30905467_31143440 | 31027886 | C | CTGTGTGT others(19): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 226 | 0.0044 | 26 | c.130 others(45): Show |
GALNT14 | ENSG00000158089.15 | transcript | ENST00000349752.10 | protein_coding | 1/14 | chr2 | TogoVar | ||||||
GALNT15_chr3_16169680_16235165 | 16232469 | A | AATATATA others(19): Show |
downstream_gene_variant | MODIFIER | HG03831.hp1 NA19012.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0002c0003t0002 | a0001c0001t0002g0085a0002c0003t0002g0188 | 2 | 388 | 0.0052 | 26 | c.*49 others(37): Show |
GALNT15 | ENSG00000131386.20 | transcript | ENST00000339732.10 | protein_coding | 2305 | chr3 | TogoVar | ||||||
GALNT15_chr3_16169680_16235165 | 16233094 | C | CTTTTTTT others(19): Show |
downstream_gene_variant | MODIFIER | HG03688.hp2 NA18940.hp1 NA19011.hp1 others(1): Show |
a0001a0002a0005 | a0001c0001a0002c0003a0005c0018 | a0001c0001t0002a0002c0003t0004a0005c0018t0002 | a0001c0001t0002g0004a0002c0003t0004g0061a0002c0003t0004g0146others(1): Show | 4 | 388 | 0.0103 | 26 | c.*55 others(37): Show |
GALNT15 | ENSG00000131386.20 | transcript | ENST00000339732.10 | protein_coding | 2930 | chr3 | TogoVar | ||||||
GALNT16_chr14_69255158_69359466 | 69345703 | A | AGTGTGTG others(19): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01361.hp1 HG02717.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(2): Show | a0001c0001t0001g0070a0001c0001t0002g0076a0001c0001t0002g0277others(3): Show | 6 | 306 | 0.0196 | 26 | c.127 others(45): Show |
GALNT16 | ENSG00000100626.17 | transcript | ENST00000448469.8 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
GALNT17_chr7_71127144_71718599 | 71201235 | T | TTATATAT others(19): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0052 | 1 | 76 | 0.0132 | 26 | c.238 others(45): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GALNT17_chr7_71127144_71718599 | 71377114 | A | AAAATATA others(19): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0043 | 1 | 76 | 0.0132 | 26 | c.423 others(45): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GALNT17_chr7_71127144_71718599 | 71693305 | C | CATATATA others(19): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0064 | 1 | 76 | 0.0132 | 26 | c.150 others(47): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GALNT18_chr11_11265877_11627005 | 11358826 | A | AACACACA others(19): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0079 | 1 | 260 | 0.0039 | 26 | c.109 others(47): Show |
GALNT18 | ENSG00000110328.6 | transcript | ENST00000227756.5 | protein_coding | 6/10 | chr11 | TogoVar | ||||||
GALNT5_chr2_157252705_157323491 | 157290112 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02258.hp1 HG03130.hp1 |
a0001a0004 | a0001c0002a0004c0006 | a0001c0002t0010a0001c0002t0077a0004c0006t0090 | a0001c0002t0010g0252a0001c0002t0077g0250a0004c0006t0090g0185 | 3 | 282 | 0.0106 | 26 | c.174 others(45): Show |
GALNT5 | ENSG00000136542.9 | transcript | ENST00000259056.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GALNT5_chr2_157252705_157323491 | 157290112 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0002 | a0001c0002t0099 | a0001c0002t0099g0257 | 1 | 282 | 0.0036 | 26 | c.174 others(45): Show |
GALNT5 | ENSG00000136542.9 | transcript | ENST00000259056.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GALNT5_chr2_157252705_157323491 | 157318154 | T | TTATTTTT others(19): Show |
3_prime_UTR_variant | MODIFIER | HG00673.hp2 NA18999.hp2 |
a0001 | a0001c0001 | a0001c0001t0055a0001c0001t0056 | a0001c0001t0055g0012a0001c0001t0056g0124 | 2 | 282 | 0.0071 | 26 | c.*68 others(37): Show |
GALNT5 | ENSG00000136542.9 | transcript | ENST00000259056.5 | protein_coding | 10/10 | 6807 | chr2 | TogoVar | |||||
GALNT7_chr4_173163811_173328967 | 173216706 | C | CATATATA others(19): Show |
intron_variant | MODIFIER | HG02897.hp1 NA19012.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0189a0001c0002t0001g0194 | 2 | 266 | 0.0075 | 26 | c.127 others(45): Show |
GALNT7 | ENSG00000109586.12 | transcript | ENST00000265000.9 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GALNTL5_chr7_151951446_152024929 | 151990580 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0032 | 1 | 384 | 0.0026 | 26 | c.658 others(43): Show |
GALNTL5 | ENSG00000106648.15 | transcript | ENST00000392800.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GALNTL6_chr4_171808404_173046559 | 171846887 | C | CATAATTA others(19): Show |
intron_variant | MODIFIER | HG02723.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011a0001c0001t0001g0012 | 2 | 40 | 0.0500 | 26 | c.138 others(45): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GALNTL6_chr4_171808404_173046559 | 172219199 | G | GTATATAT others(19): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0007 | 1 | 40 | 0.0250 | 26 | c.139 others(45): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GALNTL6_chr4_171808404_173046559 | 172504175 | A | AAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG02630.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012a0001c0001t0001g0015 | 2 | 40 | 0.0500 | 26 | c.553 others(47): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |