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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCC2_chr10_99777640_99857594 | 99780094 | CTTTTTTT others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG00639.hp2 others(88): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0005others(13): Show | a0001c0001t0001a0001c0002t0003a0001c0005t0001others(13): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0012others(86): Show | 91 | 336 | 0.2708 | -9 | c.-27 others(20): Show |
ABCC2 | ENSG00000023839.12 | transcript | ENST00000647814.1 | protein_coding | 2545 | chr10 | TogoVar | ||||||
ABCC2_chr10_99777640_99857594 | 99837448 | ATTCTTTT others(2): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG02622.hp2 HG02896.hp2 others(3): Show |
a0004a0013 | a0004c0006a0013c0018 | a0004c0006t0001a0013c0018t0001 | a0004c0006t0001g0020a0004c0006t0001g0036a0004c0006t0001g0078others(3): Show | 6 | 336 | 0.0179 | -9 | c.361 others(28): Show |
ABCC2 | ENSG00000023839.12 | transcript | ENST00000647814.1 | protein_coding | 25/31 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ABCC4_chr13_95014835_95306451 | 95054021 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00673.hp2 HG01069.hp2 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0002a0001c0002t0002a0001c0003t0001others(6): Show | a0001c0001t0002g0197a0001c0002t0002g0125a0001c0003t0001g0149others(8): Show | 11 | 248 | 0.0444 | -9 | c.336 others(26): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 26/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95124562 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(100): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0003others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(44): Show | a0001c0001t0001g0063a0001c0001t0001g0064a0001c0001t0001g0084others(100): Show | 103 | 248 | 0.4153 | -9 | c.245 others(28): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 19/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95202644 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02717.hp2 HG02976.hp1 others(4): Show |
a0001 | a0001c0009a0001c0012a0001c0013others(2): Show | a0001c0009t0001a0001c0009t0002a0001c0009t0023others(4): Show | a0001c0009t0001g0047a0001c0009t0002g0021a0001c0009t0023g0034others(4): Show | 7 | 248 | 0.0282 | -9 | c.116 others(28): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 8/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95208604 | ATTTCTTT others(2): Show |
A | intron_variant | MODIFIER | NA18969.hp1 NA19011.hp1 NA19056.hp2 others(2): Show |
a0003a0004 | a0003c0008a0004c0006 | a0003c0008t0001a0004c0006t0001a0004c0006t0002 | a0003c0008t0001g0141a0004c0006t0001g0005a0004c0006t0001g0137others(2): Show | 5 | 248 | 0.0202 | -9 | c.786 others(24): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 6/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95208608 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00609.hp2 HG00642.hp2 others(19): Show |
a0001a0003a0006 | a0001c0001a0001c0003a0001c0014others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(10): Show | a0001c0001t0001g0046a0001c0001t0001g0083a0001c0001t0001g0084others(19): Show | 22 | 248 | 0.0887 | -9 | c.786 others(24): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 6/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95269433 | AAATATAT others(2): Show |
A | intron_variant | MODIFIER | HG01074.hp2 HG01192.hp2 HG01255.hp1 others(51): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0003others(26): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(37): Show | a0001c0001t0001g0046a0001c0001t0001g0063a0001c0001t0001g0144others(51): Show | 54 | 248 | 0.2177 | -9 | c.75- others(26): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 1/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95269435 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG01074.hp1 HG01243.hp1 others(39): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0007others(22): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0020others(33): Show | a0001c0001t0001g0169a0001c0001t0001g0189a0001c0001t0001g0240others(39): Show | 42 | 248 | 0.1694 | -9 | c.75- others(26): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 1/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95276414 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG01074.hp1 HG01952.hp2 others(11): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0011others(7): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0020others(9): Show | a0001c0001t0001g0169a0001c0001t0001g0189a0001c0001t0001g0240others(11): Show | 14 | 248 | 0.0565 | -9 | c.74+ others(26): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 1/30 | chr13 | TogoVar | ||||||
ABCC6_chr16_16144565_16228494 | 16210340 | TTGGTCAG others(2): Show |
T | intron_variant | MODIFIER | HG01099.hp2 HG01168.hp1 HG01257.hp1 others(6): Show |
a0001a0009a0027others(1): Show | a0001c0001a0001c0002a0009c0015others(2): Show | a0001c0001t0001a0001c0002t0001a0009c0015t0001others(2): Show | a0001c0001t0001g0017a0001c0001t0001g0020a0001c0001t0001g0021others(6): Show | 9 | 357 | 0.0252 | -9 | c.663 others(26): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 6/30 | chr16 | TogoVar | ||||||
ABCC9_chr12_21792389_21946426 | 21816036 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp2 others(18): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0015a0001c0001t0017others(2): Show | a0001c0001t0001g0040a0001c0001t0001g0045a0001c0001t0001g0046others(18): Show | 21 | 212 | 0.0991 | -9 | c.389 others(26): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 33/39 | chr12 | TogoVar | ||||||
ABCC9_chr12_21792389_21946426 | 21829191 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG02622.hp2 HG02723.hp2 others(10): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0002t0004others(3): Show | a0001c0001t0002g0033a0001c0001t0002g0078a0001c0001t0002g0126others(10): Show | 13 | 212 | 0.0613 | -9 | c.356 others(26): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 30/39 | chr12 | TogoVar | ||||||
ABCC9_chr12_21792389_21946426 | 21841342 | GTTTCCTT others(2): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG01884.hp2 HG01993.hp2 others(23): Show |
a0001a0003 | a0001c0001a0001c0010a0003c0012 | a0001c0001t0001a0001c0001t0010a0001c0010t0001others(1): Show | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0013others(23): Show | 26 | 212 | 0.1226 | -9 | c.347 others(26): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 29/39 | chr12 | TogoVar | ||||||
ABCD2_chr12_39545033_39624803 | 39615051 | GTGGGATT others(2): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00642.hp2 others(51): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0007a0001c0001t0001g0067a0001c0001t0001g0068others(41): Show | 54 | 340 | 0.1588 | -9 | c.112 others(28): Show |
ABCD2 | ENSG00000173208.4 | transcript | ENST00000308666.4 | protein_coding | 2/9 | chr12 | TogoVar | ||||||
ABCD4_chr14_74280269_74307934 | 74289111 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(107): Show |
a0001a0002a0010others(1): Show | a0001c0001a0002c0002a0002c0009others(3): Show | a0001c0001t0003a0002c0002t0001a0002c0002t0024others(4): Show | a0001c0001t0003g0007a0001c0001t0003g0034a0001c0001t0003g0050others(53): Show | 110 | 384 | 0.2865 | -9 | c.145 others(26): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 14/18 | chr14 | TogoVar | ||||||
ABCG1_chr21_42214140_42302244 | 42216385 | ATCCTCAG others(2): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp1 others(62): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0005a0001c0001t0006a0001c0001t0007others(13): Show | a0001c0001t0005g0001a0001c0001t0005g0009a0001c0001t0005g0010others(61): Show | 65 | 354 | 0.1836 | -9 | c.-28 others(20): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 2754 | chr21 | TogoVar | ||||||
ABCG1_chr21_42214140_42302244 | 42301510 | ACAGAATC others(2): Show |
A | downstream_gene_variant | MODIFIER | HG01257.hp1 HG01258.hp1 HG01261.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0030 | a0001c0001t0004g0003a0001c0001t0004g0154a0001c0001t0004g0169others(9): Show | 13 | 354 | 0.0367 | -9 | c.*51 others(20): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 4267 | chr21 | TogoVar | ||||||
ABCG5_chr2_43807472_43843839 | 43833363 | ATATTATT others(2): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG01943.hp2 HG01975.hp1 others(2): Show |
a0003a0004 | a0003c0003a0004c0004 | a0003c0003t0001a0003c0003t0003a0004c0004t0002 | a0003c0003t0001g0263a0003c0003t0001g0264a0003c0003t0003g0265others(2): Show | 5 | 330 | 0.0152 | -9 | c.266 others(26): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 2/12 | chr2 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50884702 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG01346.hp2 HG01516.hp1 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0002c0002t0002a0003c0003t0003others(1): Show | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0119others(8): Show | 11 | 376 | 0.0293 | -9 | c.487 others(24): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ABHD16A_chr6_31681955_31708324 | 31682781 | CAAAAAAA others(2): Show |
C | downstream_gene_variant | MODIFIER | HG01106.hp1 HG01361.hp2 HG02040.hp1 others(19): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0002a0001c0003t0002a0001c0004t0002others(1): Show | a0001c0001t0002g0031a0001c0001t0002g0045a0001c0001t0002g0111others(9): Show | 22 | 417 | 0.0528 | -9 | c.*44 others(20): Show |
ABHD16A | ENSG00000204427.12 | transcript | ENST00000395952.8 | protein_coding | 4173 | chr6 | TogoVar | ||||||
ABHD16A_chr6_31681955_31708324 | 31685503 | CAAAAAAA others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG02080.hp2 HG02602.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0074 | 9 | 417 | 0.0216 | -9 | c.*17 others(20): Show |
ABHD16A | ENSG00000204427.12 | transcript | ENST00000395952.8 | protein_coding | 1451 | chr6 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26858537 | GAAAAAAA others(2): Show |
G | intron_variant | MODIFIER | HG02015.hp2 NA18941.hp1 NA18967.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003a0001c0001t0003g0004a0001c0001t0003g0005others(3): Show | 6 | 358 | 0.0168 | -9 | c.117 others(26): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 1/10 | chr10 | TogoVar | ||||||
ABI2_chr2_203323394_203437169 | 203392275 | TCACCACC others(2): Show |
T | intron_variant | MODIFIER | HG02486.hp2 HG02970.hp2 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0148a0001c0001t0005g0098a0001c0001t0005g0099 | 3 | 320 | 0.0094 | -9 | c.578 others(26): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABI2_chr2_203323394_203437169 | 203392314 | CCAACAAC others(2): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00642.hp2 HG00735.hp1 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0181a0001c0001t0002g0084a0001c0001t0002g0193others(36): Show | 39 | 320 | 0.1219 | -9 | c.578 others(26): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABI2_chr2_203323394_203437169 | 203415616 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG01943.hp1 HG01975.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0012others(2): Show | a0001c0001t0001g0140a0001c0001t0004g0121a0001c0001t0004g0124others(21): Show | 24 | 320 | 0.0750 | -9 | c.128 others(28): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABI3_chr17_49205707_49228225 | 49220846 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG00609.hp2 HG00741.hp2 others(33): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0009 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0005a0001c0001t0001g0017a0001c0001t0001g0044others(14): Show | 36 | 448 | 0.0804 | -9 | c.802 others(24): Show |
ABI3 | ENSG00000108798.9 | transcript | ENST00000225941.6 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ABL2_chr1_179094330_179234677 | 179224134 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01167.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0033a0001c0001t0003g0045a0001c0001t0003g0047others(5): Show | 8 | 350 | 0.0229 | -9 | c.157 others(26): Show |
ABL2 | ENSG00000143322.22 | transcript | ENST00000502732.6 | protein_coding | 1/11 | chr1 | TogoVar | ||||||
ABL2_chr1_179094330_179234677 | 179226043 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01081.hp1 HG01167.hp2 HG01346.hp2 others(20): Show |
a0001a0007 | a0001c0001a0007c0015 | a0001c0001t0008a0001c0001t0009a0001c0001t0102others(2): Show | a0001c0001t0008g0282a0001c0001t0008g0283a0001c0001t0008g0287others(20): Show | 23 | 350 | 0.0657 | -9 | c.157 others(26): Show |
ABL2 | ENSG00000143322.22 | transcript | ENST00000502732.6 | protein_coding | 1/11 | chr1 | TogoVar | ||||||
ABL2_chr1_179094330_179234677 | 179229646 | GCCGCCGC others(2): Show |
G | 5_prime_UTR_variant | MODIFIER | HG00597.hp2 HG01106.hp1 HG01433.hp2 others(16): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0055a0001c0003t0023a0001c0003t0028others(11): Show | a0001c0001t0055g0012a0001c0003t0023g0009a0001c0003t0023g0010others(16): Show | 19 | 350 | 0.0543 | -9 | c.-25 others(18): Show |
ABL2 | ENSG00000143322.22 | transcript | ENST00000502732.6 | protein_coding | 1/12 | 250 | chr1 | TogoVar | |||||
ABLIM1_chr10_114426112_114663275 | 114536227 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00544.hp1 others(28): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0012others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(25): Show | a0001c0001t0001g0086a0001c0001t0001g0124a0001c0001t0001g0244others(28): Show | 31 | 256 | 0.1211 | -9 | c.894 others(26): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 6/22 | chr10 | TogoVar | ||||||
ABLIM1_chr10_114426112_114663275 | 114565788 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00639.hp2 others(76): Show |
a0001a0002a0008 | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0006others(56): Show | a0001c0001t0004g0100a0001c0001t0005g0075a0001c0001t0006g0090others(76): Show | 79 | 256 | 0.3086 | -9 | c.673 others(26): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 4/22 | chr10 | TogoVar | ||||||
ABLIM2_chr4_7960327_8163813 | 7987036 | GCAGTGGC others(2): Show |
G | intron_variant | MODIFIER | HG02109.hp1 HG02818.hp2 HG03130.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010 | a0001c0001t0001g0288a0001c0001t0002g0283a0001c0001t0010g0005others(3): Show | 6 | 322 | 0.0186 | -9 | c.168 others(28): Show |
ABLIM2 | ENSG00000163995.22 | transcript | ENST00000447017.7 | protein_coding | 17/20 | chr4 | TogoVar | ||||||
ABLIM3_chr5_149136493_149265542 | 149260683 | AAATAATA others(2): Show |
A | downstream_gene_variant | MODIFIER | HG03209.hp2 HG03225.hp2 HG03471.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0004a0001c0001t0005a0002c0005t0008 | a0001c0001t0004g0069a0001c0001t0005g0110a0002c0005t0008g0116others(1): Show | 4 | 258 | 0.0155 | -9 | c.*22 others(20): Show |
ABLIM3 | ENSG00000173210.21 | transcript | ENST00000309868.12 | protein_coding | 142 | chr5 | TogoVar | ||||||
ABRAXAS1_chr4_83454517_83490100 | 83471191 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp2 HG00639.hp2 others(55): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0003a0001c0001t0007a0001c0001t0009others(7): Show | a0001c0001t0003g0046a0001c0001t0003g0197a0001c0001t0007g0007others(37): Show | 58 | 356 | 0.1629 | -9 | c.283 others(24): Show |
ABRAXAS1 | ENSG00000163322.14 | transcript | ENST00000321945.12 | protein_coding | 4/8 | chr4 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1031513 | TCAGCCCC others(2): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(154): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(64): Show | a0001c0001t0001g0001a0001c0001t0001g0056a0001c0001t0001g0061others(153): Show | 157 | 337 | 0.4659 | -9 | c.179 others(30): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1079788 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00642.hp2 others(20): Show |
a0001a0004a0005 | a0001c0001a0001c0009a0004c0011others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0063a0001c0001t0001g0064a0001c0001t0001g0135others(20): Show | 23 | 337 | 0.0683 | -9 | c.640 others(24): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 5/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1083262 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG00673.hp1 others(22): Show |
a0001 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(11): Show | a0001c0001t0001g0194a0001c0001t0001g0195a0001c0001t0001g0199others(22): Show | 25 | 337 | 0.0742 | -9 | c.639 others(24): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 5/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1088452 | TTAATAAT others(2): Show |
T | intron_variant | MODIFIER | HG01167.hp2 HG01346.hp1 HG01891.hp1 others(20): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0065a0001c0001t0001g0146a0001c0001t0002g0126others(20): Show | 23 | 337 | 0.0683 | -9 | c.531 others(26): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 4/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1146845 | GGCCACCA others(2): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00438.hp1 others(106): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(45): Show | a0001c0001t0001g0054a0001c0001t0001g0069a0001c0001t0001g0071others(106): Show | 109 | 337 | 0.3234 | -9 | c.62- others(26): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1146866 | CACCATTG others(2): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG02055.hp2 HG02886.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0031a0001c0001t0067a0001c0002t0092others(1): Show | a0001c0001t0031g0240a0001c0001t0067g0091a0001c0002t0092g0336others(1): Show | 4 | 337 | 0.0119 | -9 | c.62- others(26): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1146892 | GCCACTGC others(2): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00544.hp2 others(64): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0082a0001c0001t0001g0087a0001c0001t0001g0124others(64): Show | 67 | 337 | 0.1988 | -9 | c.62- others(26): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1146905 | CTGCCACC others(2): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG02145.hp1 HG02886.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0014a0001c0001t0023others(2): Show | a0001c0001t0008g0019a0001c0001t0014g0243a0001c0001t0023g0035others(2): Show | 5 | 337 | 0.0148 | -9 | c.62- others(26): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | ||||||
ABTB2_chr11_34145987_34363010 | 34214532 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG02145.hp1 HG02280.hp2 others(15): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0001c0009others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0004t0003others(9): Show | a0001c0001t0001g0084a0001c0001t0001g0092a0001c0001t0001g0093others(15): Show | 18 | 246 | 0.0732 | -9 | c.884 others(26): Show |
ABTB2 | ENSG00000166016.6 | transcript | ENST00000435224.3 | protein_coding | 1/16 | chr11 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107335286 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG01361.hp2 HG02280.hp1 others(8): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0012a0003c0021others(4): Show | a0001c0001t0002a0001c0001t0006a0001c0012t0001others(6): Show | a0001c0001t0002g0096a0001c0001t0006g0089a0001c0001t0006g0102others(8): Show | 11 | 186 | 0.0591 | -9 | c.113 others(30): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ABTB3_chr12_107313434_107664642 | 107375422 | AATCATCA others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00423.hp2 others(46): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0012others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(30): Show | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0016others(46): Show | 49 | 186 | 0.2634 | -9 | c.113 others(30): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACACA_chr17_37079992_37411836 | 37217756 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG02486.hp1 HG02622.hp2 HG02647.hp1 others(11): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0003a0001c0001t0032others(1): Show | a0001c0001t0001g0187a0001c0001t0003g0045a0001c0001t0003g0112others(11): Show | 14 | 299 | 0.0468 | -9 | c.368 others(28): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 29/55 | chr17 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109143462 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00609.hp2 HG00639.hp1 others(44): Show |
a0001a0002a0003others(5): Show | a0001c0013a0001c0045a0002c0061others(10): Show | a0001c0013t0001a0001c0045t0002a0002c0061t0003others(15): Show | a0001c0013t0001g0153a0001c0045t0002g0146a0002c0061t0003g0062others(44): Show | 47 | 308 | 0.1526 | -9 | c.653 others(26): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACAD10_chr12_111681053_111762099 | 111718036 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00597.hp1 others(74): Show |
a0001a0004a0010 | a0001c0001a0001c0002a0004c0005others(1): Show | a0001c0001t0001a0001c0002t0002a0004c0005t0002others(1): Show | a0001c0001t0001g0042a0001c0002t0002g0001a0001c0002t0002g0004others(69): Show | 77 | 336 | 0.2292 | -9 | c.992 others(26): Show |
ACAD10 | ENSG00000111271.15 | transcript | ENST00000313698.9 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACAD11_chr3_132553141_132664809 | 132641560 | TGAAGAAG others(2): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG02129.hp1 HG02572.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002 | a0001c0001t0001a0001c0006t0001a0002c0002t0001 | a0001c0001t0001g0039a0001c0001t0001g0183a0001c0001t0001g0206others(3): Show | 6 | 316 | 0.0190 | -9 | c.537 others(24): Show |
ACAD11 | ENSG00000240303.8 | transcript | ENST00000264990.11 | protein_coding | 4/19 | chr3 | TogoVar |