| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ATP8B4_chr15_49853238_50124233 | 50086162 | TAAAATA | T | intron_variant | MODIFIER | HG01884.hp1 HG02965.hp1 HG02976.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0014a0002c0002 | a0001c0001t0002a0001c0001t0010a0001c0001t0022others(2): Show | a0001c0001t0002g0064a0001c0001t0002g0067a0001c0001t0010g0092others(3): Show | 6 | 254 | 0.0236 | -6 | c.29- others(23): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | ||||||
| ATP8B4_chr15_49853238_50124233 | 50086198 | TAAAATA | T | intron_variant | MODIFIER | HG00558.hp2 HG00642.hp1 HG02055.hp2 others(5): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0003a0002c0002t0001a0002c0002t0002others(3): Show | a0001c0001t0003g0108a0002c0002t0001g0164a0002c0002t0002g0085others(5): Show | 8 | 254 | 0.0315 | -6 | c.29- others(23): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | ||||||
| ATP8B4_chr15_49853238_50124233 | 50086200 | AAATAAT | A | intron_variant | MODIFIER | HG02055.hp1 HG02572.hp2 HG02818.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0025 | a0001c0001t0003g0235a0001c0001t0003g0236a0001c0001t0003g0237others(1): Show | 4 | 254 | 0.0158 | -6 | c.29- others(23): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | ||||||
| ATP8B4_chr15_49853238_50124233 | 50086234 | TAAAATA | T | intron_variant | MODIFIER | HG00735.hp1 HG02622.hp2 NA18960.hp1 others(2): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0113a0001c0001t0002g0072a0001c0001t0002g0075others(2): Show | 5 | 254 | 0.0197 | -6 | c.29- others(23): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | ||||||
| ATP8B4_chr15_49853238_50124233 | 50086270 | TAAAATA | T | intron_variant | MODIFIER | HG01109.hp1 HG01167.hp1 HG02451.hp1 others(6): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0004others(1): Show | a0001c0001t0002a0001c0001t0003a0002c0002t0001others(5): Show | a0001c0001t0002g0006a0001c0001t0002g0067a0001c0001t0003g0108others(6): Show | 9 | 254 | 0.0354 | -6 | c.29- others(23): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | ||||||
| ATP8B4_chr15_49853238_50124233 | 50086272 | AAATAAT | A | intron_variant | MODIFIER | HG00558.hp2 HG00642.hp1 HG02055.hp2 others(4): Show |
a0002a0003a0010 | a0002c0002a0003c0003a0010c0012 | a0002c0002t0001a0002c0002t0002a0003c0003t0002others(2): Show | a0002c0002t0001g0164a0002c0002t0002g0085a0003c0003t0002g0003others(4): Show | 7 | 254 | 0.0276 | -6 | c.29- others(23): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | ||||||
| ATP8B4_chr15_49853238_50124233 | 50086306 | TAAAATA | T | intron_variant | MODIFIER | HG00735.hp1 HG01884.hp1 HG01934.hp2 others(13): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0014a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0113a0001c0001t0002g0064a0001c0001t0003g0105others(13): Show | 16 | 254 | 0.0630 | -6 | c.29- others(23): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | ||||||
| ATP8B4_chr15_49853238_50124233 | 50086374 | TAAAATA | T | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00438.hp1 others(68): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0002a0002c0021others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(19): Show | a0001c0001t0001g0089a0001c0001t0001g0090a0001c0001t0001g0110others(68): Show | 71 | 254 | 0.2795 | -6 | c.29- others(23): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | ||||||
| ATP8B4_chr15_49853238_50124233 | 50086376 | AAATAAT | A | intron_variant | MODIFIER | HG00735.hp1 HG01884.hp1 HG02451.hp2 others(7): Show |
a0001a0002a0012 | a0001c0001a0001c0014a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0113a0001c0001t0002g0064a0001c0001t0003g0105others(7): Show | 10 | 254 | 0.0394 | -6 | c.29- others(23): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | ||||||
| ATP8B4_chr15_49853238_50124233 | 50086412 | AAATAAT | A | intron_variant | MODIFIER | HG00280.hp1 HG00558.hp1 HG02004.hp2 others(5): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0003a0002c0002t0001a0002c0002t0006others(4): Show | a0001c0001t0003g0122a0001c0001t0003g0123a0002c0002t0001g0228others(5): Show | 8 | 254 | 0.0315 | -6 | c.29- others(23): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | ||||||
| ATP9A_chr20_51591514_51773390 | 51600805 | AAAACAC | A | 3_prime_UTR_variant | MODIFIER | HG00735.hp2 HG04199.hp1 NA20752.hp2 |
a0001 | a0001c0002 | a0001c0002t0020 | a0001c0002t0020g0102a0001c0002t0020g0140a0001c0002t0020g0143 | 3 | 312 | 0.0096 | -6 | c.*40 others(15): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 28/28 | 400 | chr20 | TogoVar | |||||
| ATP9A_chr20_51591514_51773390 | 51600807 | AACACAC | A | 3_prime_UTR_variant | MODIFIER | HG00438.hp1 HG00673.hp1 HG02523.hp1 others(9): Show |
a0001 | a0001c0001a0001c0003a0001c0016others(1): Show | a0001c0001t0010a0001c0001t0063a0001c0001t0064others(4): Show | a0001c0001t0010g0034a0001c0001t0010g0192a0001c0001t0010g0272others(9): Show | 12 | 312 | 0.0385 | -6 | c.*39 others(15): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 28/28 | 398 | chr20 | TogoVar | |||||
| ATP9A_chr20_51591514_51773390 | 51638069 | TTTTATA | T | intron_variant | MODIFIER | HG01106.hp1 HG02818.hp1 HG04228.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0024others(2): Show | a0001c0001t0003g0069a0001c0001t0006g0062a0001c0001t0024g0045others(2): Show | 5 | 312 | 0.0160 | -6 | c.166 others(25): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 15/27 | chr20 | TogoVar | ||||||
| ATP9A_chr20_51591514_51773390 | 51638071 | TTATATA | T | intron_variant | MODIFIER | HG01081.hp2 HG01099.hp1 HG01192.hp2 |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0021a0001c0002t0028 | a0001c0002t0003g0066a0001c0002t0021g0300a0001c0002t0028g0073 | 3 | 312 | 0.0096 | -6 | c.166 others(25): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 15/27 | chr20 | TogoVar | ||||||
| ATP9A_chr20_51591514_51773390 | 51642726 | CAAAAAA | C | intron_variant | MODIFIER | HG00423.hp2 HG02280.hp1 HG02895.hp2 others(5): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0009a0001c0001t0012a0001c0001t0013others(3): Show | a0001c0001t0009g0009a0001c0001t0012g0080a0001c0001t0012g0132others(5): Show | 8 | 312 | 0.0256 | -6 | c.150 others(25): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 14/27 | chr20 | TogoVar | ||||||
| ATP9A_chr20_51591514_51773390 | 51661526 | CTTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp1 others(152): Show |
a0001a0002 | a0001c0001a0001c0006a0001c0007others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0015a0001c0001t0001g0026a0001c0001t0001g0027others(152): Show | 155 | 312 | 0.4968 | -6 | c.129 others(25): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 13/27 | chr20 | TogoVar | ||||||
| ATP9A_chr20_51591514_51773390 | 51690109 | CAAAAAA | C | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00423.hp2 others(44): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0011a0001c0002t0001others(25): Show | a0001c0001t0001g0287a0001c0001t0011g0163a0001c0002t0001g0200others(44): Show | 47 | 312 | 0.1506 | -6 | c.723 others(21): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 8/27 | chr20 | TogoVar | ||||||
| ATP9A_chr20_51591514_51773390 | 51702365 | CGTGTGT | C | intron_variant | MODIFIER | HG00558.hp2 HG03669.hp1 NA19056.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0021 | a0001c0001t0022a0001c0001t0026a0001c0001t0038others(1): Show | a0001c0001t0022g0103a0001c0001t0026g0043a0001c0001t0038g0025others(1): Show | 4 | 312 | 0.0128 | -6 | c.437 others(23): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 4/27 | chr20 | TogoVar | ||||||
| ATP9A_chr20_51591514_51773390 | 51711852 | ATTTTTT | A | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG02622.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0008a0001c0001t0009a0001c0001t0039others(6): Show | a0001c0001t0008g0072a0001c0001t0009g0078a0001c0001t0039g0122others(8): Show | 11 | 312 | 0.0353 | -6 | c.436 others(23): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 4/27 | chr20 | TogoVar | ||||||
| ATP9A_chr20_51591514_51773390 | 51717169 | CAAAAAA | C | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00438.hp2 others(79): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0026a0001c0001t0001g0027a0001c0001t0001g0030others(79): Show | 82 | 312 | 0.2628 | -6 | c.328 others(23): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 3/27 | chr20 | TogoVar | ||||||
| ATP9A_chr20_51591514_51773390 | 51718814 | CAAAAAA | C | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00544.hp2 others(68): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0015a0001c0001t0001g0077a0001c0001t0001g0094others(68): Show | 71 | 312 | 0.2276 | -6 | c.328 others(23): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 3/27 | chr20 | TogoVar | ||||||
| ATP9B_chr18_79064394_79383283 | 79065938 | TGTCATA | T | upstream_gene_variant | MODIFIER | HG01106.hp2 HG02572.hp2 HG02818.hp2 |
a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0101a0001c0004t0003g0102a0001c0004t0003g0103 | 3 | 298 | 0.0101 | -6 | c.-34 others(17): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 3455 | chr18 | TogoVar | ||||||
| ATP9B_chr18_79064394_79383283 | 79116951 | AAAAAAG | A | intron_variant | MODIFIER | HG02809.hp2 HG03041.hp2 HG03098.hp2 others(6): Show |
a0002a0007a0008others(1): Show | a0002c0002a0002c0033a0007c0031others(2): Show | a0002c0002t0002a0002c0002t0009a0002c0033t0002others(3): Show | a0002c0002t0002g0182a0002c0002t0002g0183a0002c0002t0002g0218others(6): Show | 9 | 298 | 0.0302 | -6 | c.558 others(23): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 4/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| ATP9B_chr18_79064394_79383283 | 79150088 | AAAAAAT | A | intron_variant | MODIFIER | HG00280.hp1 HG00673.hp2 HG01081.hp2 others(85): Show |
a0001a0003a0012others(3): Show | a0001c0001a0001c0003a0001c0004others(15): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(25): Show | a0001c0001t0001g0089a0001c0001t0001g0090a0001c0001t0001g0091others(85): Show | 88 | 298 | 0.2953 | -6 | c.727 others(23): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 6/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| ATP9B_chr18_79064394_79383283 | 79157207 | TACACAC | T | intron_variant | MODIFIER | HG02717.hp2 HG02922.hp1 HG03139.hp1 others(4): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0014a0002c0002others(2): Show | a0001c0001t0001a0001c0014t0006a0002c0002t0002others(2): Show | a0001c0001t0001g0018a0001c0014t0006g0017a0002c0002t0002g0199others(4): Show | 7 | 298 | 0.0235 | -6 | c.778 others(23): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 7/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| ATP9B_chr18_79064394_79383283 | 79190541 | CACACAT | C | intron_variant | MODIFIER | HG00639.hp1 HG01168.hp1 HG02109.hp2 others(2): Show |
a0001a0002 | a0001c0038a0001c0039a0002c0002 | a0001c0038t0001a0001c0039t0002a0002c0002t0002 | a0001c0038t0001g0265a0001c0039t0002g0266a0002c0002t0002g0173others(2): Show | 5 | 298 | 0.0168 | -6 | c.874 others(23): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 8/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| ATP9B_chr18_79064394_79383283 | 79190543 | CACATAT | C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00733.hp1 others(6): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0003a0002c0002t0001 | a0001c0003t0003g0133a0002c0002t0001g0158a0002c0002t0001g0159others(6): Show | 9 | 298 | 0.0302 | -6 | c.874 others(23): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 8/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| ATP9B_chr18_79064394_79383283 | 79371370 | TAAAAAA | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(42): Show |
a0001a0002a0005others(4): Show | a0001c0001a0001c0003a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0003others(12): Show | a0001c0001t0001g0019a0001c0001t0001g0140a0001c0001t0001g0141others(42): Show | 45 | 298 | 0.1510 | -6 | c.301 others(25): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 26/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| ATP9B_chr18_79064394_79383283 | 79376172 | AACACAC | A | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp2 HG01106.hp1 others(31): Show |
a0001a0015a0016 | a0001c0003a0001c0004a0001c0006others(2): Show | a0001c0003t0003a0001c0003t0011a0001c0003t0013others(4): Show | a0001c0003t0003g0112a0001c0003t0003g0115a0001c0003t0003g0121others(31): Show | 34 | 298 | 0.1141 | -6 | c.330 others(23): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 29/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| ATPAF2_chr17_18013021_18044168 | 18016873 | TAAAAAA | T | downstream_gene_variant | MODIFIER | HG00609.hp1 HG02056.hp1 HG02135.hp1 others(8): Show |
a0002a0004 | a0002c0002a0004c0005 | a0002c0002t0003a0004c0005t0003 | a0002c0002t0003g0029a0002c0002t0003g0030a0002c0002t0003g0032others(8): Show | 11 | 328 | 0.0335 | -6 | c.*16 others(17): Show |
ATPAF2 | ENSG00000171953.16 | transcript | ENST00000474627.8 | protein_coding | 1147 | chr17 | TogoVar | ||||||
| ATRAID_chr2_27207041_27222157 | 27221753 | ATTTTTT | A | downstream_gene_variant | MODIFIER | HG01106.hp2 HG01934.hp1 HG01952.hp2 others(9): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0002a0004c0005t0002 | a0001c0001t0002g0002a0004c0005t0002g0002 | 12 | 302 | 0.0397 | -6 | c.*48 others(17): Show |
ATRAID | ENSG00000138085.18 | transcript | ENST00000380171.9 | protein_coding | 4597 | chr2 | TogoVar | ||||||
| ATRIP_chr3_48441737_48472645 | 48452870 | ATTTTTT | A | intron_variant | MODIFIER | HG01891.hp1 HG02258.hp2 HG02559.hp2 others(16): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0013a0001c0003t0001others(2): Show | a0001c0001t0001g0008a0001c0001t0001g0089a0001c0001t0001g0110others(5): Show | 19 | 360 | 0.0528 | -6 | c.552 others(21): Show |
ATRIP | ENSG00000164053.22 | transcript | ENST00000320211.10 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| ATRNL1_chr10_115088365_115953999 | 115214041 | TACACAC | T | intron_variant | MODIFIER | HG01071.hp2 HG02723.hp1 |
a0002 | a0002c0008a0002c0014 | a0002c0008t0011a0002c0014t0009 | a0002c0008t0011g0073a0002c0014t0009g0072 | 2 | 128 | 0.0156 | -6 | c.134 others(25): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 8/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| ATRNL1_chr10_115088365_115953999 | 115230870 | TGAGAGA | T | intron_variant | MODIFIER | HG00735.hp2 HG01123.hp1 HG01943.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0036a0001c0001t0001g0065a0001c0001t0001g0069others(14): Show | 17 | 128 | 0.1328 | -6 | c.153 others(27): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 9/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| ATRNL1_chr10_115088365_115953999 | 115278275 | CATTCCA | C | intron_variant | MODIFIER | HG00639.hp2 HG02717.hp1 HG02723.hp2 others(5): Show |
a0001 | a0001c0005a0001c0007 | a0001c0005t0007a0001c0005t0018a0001c0005t0021others(3): Show | a0001c0005t0007g0002a0001c0005t0007g0004a0001c0005t0007g0009others(5): Show | 8 | 128 | 0.0625 | -6 | c.210 others(25): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 13/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| ATRNL1_chr10_115088365_115953999 | 115342511 | CTTGTTA | C | intron_variant | MODIFIER | HG02055.hp1 HG02622.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0022 | a0001c0001t0010g0033a0001c0001t0010g0034a0001c0001t0022g0032 | 3 | 128 | 0.0234 | -6 | c.317 others(25): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 19/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| ATRNL1_chr10_115088365_115953999 | 115389538 | GTGTATA | G | intron_variant | MODIFIER | HG02622.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0022 | a0001c0001t0011g0112a0001c0001t0022g0032 | 2 | 128 | 0.0156 | -6 | c.317 others(25): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 19/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| ATRNL1_chr10_115088365_115953999 | 115389540 | GTATATA | G | intron_variant | MODIFIER | HG00735.hp1 HG01123.hp1 HG01952.hp2 others(16): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(13): Show | a0001c0001t0001g0036a0001c0001t0001g0098a0001c0001t0002g0015others(16): Show | 19 | 128 | 0.1484 | -6 | c.317 others(25): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 19/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| ATRNL1_chr10_115088365_115953999 | 115445506 | CGTGTGT | C | intron_variant | MODIFIER | HG02132.hp1 HG02572.hp1 HG02809.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0011 | a0001c0001t0002a0001c0001t0011a0001c0001t0048others(3): Show | a0001c0001t0002g0080a0001c0001t0011g0112a0001c0001t0048g0107others(3): Show | 6 | 128 | 0.0469 | -6 | c.332 others(27): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 21/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| ATRNL1_chr10_115088365_115953999 | 115577610 | TTGTGTG | T | intron_variant | MODIFIER | HG00639.hp2 HG00741.hp2 HG01081.hp2 others(26): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0036a0001c0001t0001g0055a0001c0001t0001g0065others(26): Show | 29 | 128 | 0.2266 | -6 | c.379 others(27): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| ATRNL1_chr10_115088365_115953999 | 115600929 | CTTTTTT | C | intron_variant | MODIFIER | HG00735.hp1 HG00738.hp1 HG00741.hp1 others(39): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0010a0001c0001t0019a0001c0001t0024others(21): Show | a0001c0001t0010g0018a0001c0001t0019g0020a0001c0001t0024g0024others(39): Show | 42 | 128 | 0.3281 | -6 | c.379 others(27): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| ATRNL1_chr10_115088365_115953999 | 115630827 | TACACAC | T | intron_variant | MODIFIER | HG01361.hp2 HG02258.hp2 HG03139.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0019a0001c0001t0024others(1): Show | a0001c0001t0001g0091a0001c0001t0019g0020a0001c0001t0024g0024others(1): Show | 4 | 128 | 0.0313 | -6 | c.379 others(27): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| ATRNL1_chr10_115088365_115953999 | 115630869 | CACACAT | C | intron_variant | MODIFIER | HG00639.hp1 HG03041.hp1 HG03239.hp2 |
a0001 | a0001c0003a0001c0012a0001c0013 | a0001c0003t0003a0001c0012t0001a0001c0013t0009 | a0001c0003t0003g0060a0001c0012t0001g0071a0001c0013t0009g0078 | 3 | 128 | 0.0234 | -6 | c.379 others(27): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | chr10 | TogoVar | ||||||
| ATRNL1_chr10_115088365_115953999 | 115637603 | CTATTAT | C | intron_variant | MODIFIER | HG01071.hp2 HG01515.hp2 HG02055.hp2 others(13): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0098a0001c0001t0001g0120a0001c0001t0001g0124others(13): Show | 16 | 128 | 0.1250 | -6 | c.379 others(27): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| ATRNL1_chr10_115088365_115953999 | 115729495 | TTGTGTG | T | intron_variant | MODIFIER | HG00741.hp1 HG01071.hp1 HG01123.hp2 others(23): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0017a0001c0002t0001a0001c0002t0004others(12): Show | a0001c0001t0017g0028a0001c0002t0001g0103a0001c0002t0004g0039others(23): Show | 26 | 128 | 0.2031 | -6 | c.390 others(25): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| ATRNL1_chr10_115088365_115953999 | 115730253 | CAAAAAA | C | intron_variant | MODIFIER | HG00741.hp1 HG01071.hp1 HG01123.hp2 others(15): Show |
a0001 | a0001c0002a0001c0005a0001c0006others(1): Show | a0001c0002t0001a0001c0002t0004a0001c0002t0005others(4): Show | a0001c0002t0001g0045a0001c0002t0004g0039a0001c0002t0004g0040others(15): Show | 18 | 128 | 0.1406 | -6 | c.390 others(25): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| ATRNL1_chr10_115088365_115953999 | 115774425 | CAAAAAA | C | intron_variant | MODIFIER | HG00735.hp1 HG01081.hp2 HG01515.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0065a0001c0001t0001g0120a0001c0001t0001g0124others(19): Show | 22 | 128 | 0.1719 | -6 | c.390 others(27): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| ATRNL1_chr10_115088365_115953999 | 115783226 | CCACACA | C | intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG00735.hp2 others(67): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(40): Show | a0001c0001t0001g0036a0001c0001t0001g0055a0001c0001t0001g0069others(67): Show | 70 | 128 | 0.5469 | -6 | c.390 others(27): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| ATRNL1_chr10_115088365_115953999 | 115815415 | ATGTGTG | A | intron_variant | MODIFIER | HG00639.hp2 HG02723.hp1 HG02896.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0016others(1): Show | a0001c0001t0006a0001c0005t0007a0001c0005t0032others(2): Show | a0001c0001t0006g0109a0001c0005t0007g0002a0001c0005t0007g0004others(4): Show | 7 | 128 | 0.0547 | -6 | c.390 others(27): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| ATRNL1_chr10_115088365_115953999 | 115837466 | CCACACA | C | intron_variant | MODIFIER | HG02055.hp2 HG03540.hp2 NA18522.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0008a0001c0003t0041 | a0001c0001t0008g0014a0001c0001t0008g0082a0001c0003t0041g0047 | 3 | 128 | 0.0234 | -6 | c.390 others(27): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |