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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MOXD1_chr6_132291055_132406475 | 132376489 | TAACTACA others(316): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00544.hp2 others(207): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0010others(206): Show | 210 | 318 | 0.6604 | -323 | c.265 others(17): Show |
MOXD1 | ENSG00000079931.15 | transcript | ENST00000367963.8 | protein_coding | 1/11 | chr6 | TogoVar | ||||||
MYT1L_chr2_1784113_2336275 | 1797897 | CCCCTTCT others(316): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00438.hp1 others(28): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0002a0001c0001t0008a0001c0002t0001others(22): Show | a0001c0001t0002g0090a0001c0001t0008g0009a0001c0002t0001g0060others(28): Show | 31 | 104 | 0.2981 | -323 | c.327 others(19): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 23/24 | chr2 | TogoVar | ||||||
NALF1_chr13_107158510_107872496 | 107272190 | TTAGAATT others(316): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00323.hp2 others(74): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(66): Show | a0001c0001t0001g0037a0001c0001t0001g0063a0001c0001t0001g0065others(74): Show | 77 | 128 | 0.6016 | -323 | c.916 others(19): Show |
NALF1 | ENSG00000204442.4 | transcript | ENST00000375915.4 | protein_coding | 1/2 | chr13 | TogoVar | ||||||
NFIB_chr9_14076848_14319141 | 14215134 | TTGGGTGC others(316): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02109.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0011others(13): Show | a0001c0001t0003g0007a0001c0001t0003g0067a0001c0001t0006g0039others(20): Show | 23 | 304 | 0.0757 | -323 | c.563 others(19): Show |
NFIB | ENSG00000147862.18 | transcript | ENST00000380953.6 | protein_coding | 2/10 | chr9 | TogoVar | ||||||
NKAIN2_chr6_123798865_124830640 | 124177761 | TTCTGTTC others(316): Show |
T | intron_variant | MODIFIER | HG00741.hp1 HG01109.hp1 HG01243.hp1 others(50): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(50): Show | 53 | 66 | 0.8030 | -323 | c.55- others(19): Show |
NKAIN2 | ENSG00000188580.16 | transcript | ENST00000368417.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
NPLOC4_chr17_81551887_81642112 | 81610654 | TAAAATGA others(316): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(145): Show |
a0001 | a0001c0002a0001c0003a0001c0005others(7): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(90): Show | a0001c0002t0001g0037a0001c0002t0001g0054a0001c0002t0002g0050others(145): Show | 148 | 344 | 0.4302 | -323 | c.387 others(15): Show |
NPLOC4 | ENSG00000182446.15 | transcript | ENST00000331134.11 | protein_coding | 4/16 | chr17 | TogoVar | ||||||
P2RY1_chr3_152830131_152846439 | 152832808 | TTGAGACG others(316): Show |
T | upstream_gene_variant | MODIFIER | HG02257.hp1 HG02895.hp1 HG02897.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0014a0001c0002t0031 | a0001c0002t0014g0000a0001c0002t0031g0000 | 5 | 368 | 0.0136 | -323 | c.-29 others(11): Show |
P2RY1 | ENSG00000169860.7 | transcript | ENST00000305097.6 | protein_coding | 2322 | chr3 | TogoVar | ||||||
PALS2_chr7_24568452_24699193 | 24638306 | TCAATTTC others(316): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG00438.hp1 others(277): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(103): Show | a0001c0001t0001g0098a0001c0001t0001g0182a0001c0001t0001g0183others(273): Show | 280 | 378 | 0.7407 | -323 | c.118 others(17): Show |
PALS2 | ENSG00000105926.16 | transcript | ENST00000222644.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
PCMTD1_chr8_51812583_51904036 | 51825401 | TAAGATAT others(316): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(163): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0003a0001c0001t0009a0001c0001t0010others(10): Show | a0001c0001t0003g0002a0001c0001t0003g0009a0001c0001t0003g0010others(136): Show | 166 | 336 | 0.4941 | -323 | c.707 others(17): Show |
PCMTD1 | ENSG00000168300.14 | transcript | ENST00000522514.6 | protein_coding | 5/5 | chr8 | TogoVar | ||||||
PJA2_chr5_109329722_109414974 | 109341845 | TGGCCAGC others(316): Show |
T | intron_variant | MODIFIER | HG02257.hp2 HG02300.hp1 HG03017.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0011a0001c0001t0006g0012a0001c0001t0006g0013 | 3 | 346 | 0.0087 | -323 | c.200 others(19): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 9/9 | chr5 | TogoVar | ||||||
PLA2R1_chr2_159927006_160067615 | 159999340 | TTACGTAA others(316): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(255): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0003a0001c0014others(25): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(112): Show | a0001c0001t0002g0115a0001c0001t0002g0191a0001c0001t0003g0111others(246): Show | 258 | 326 | 0.7914 | -323 | c.183 others(19): Show |
PLA2R1 | ENSG00000153246.13 | transcript | ENST00000283243.13 | protein_coding | 11/29 | chr2 | TogoVar | ||||||
PLXNC1_chr12_94143577_94312675 | 94275556 | TAAGAAAC others(316): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00423.hp2 others(72): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0003others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0112a0001c0001t0001g0165a0001c0001t0001g0289others(72): Show | 75 | 298 | 0.2517 | -323 | c.359 others(19): Show |
PLXNC1 | ENSG00000136040.9 | transcript | ENST00000258526.9 | protein_coding | 21/30 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
RNASE10_chr14_20500537_20518884 | 20506528 | AGGAGGTG others(316): Show |
A | intron_variant | MODIFIER | HG02886.hp1 HG02896.hp2 HG02897.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0029a0001c0001t0096 | a0001c0001t0016g0092a0001c0001t0016g0093a0001c0001t0029g0034others(2): Show | 6 | 396 | 0.0152 | -323 | c.-6+ others(13): Show |
RNASE10 | ENSG00000182545.7 | transcript | ENST00000430083.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
RPSA2_chr19_23758004_23833868 | 23803591 | TAAAAAAA others(316): Show |
T | intron_variant | MODIFIER | NA19091.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0146 | 1 | 366 | 0.0027 | -323 | c.-30 others(19): Show |
RPSA2 | ENSG00000288920.1 | transcript | ENST00000484897.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
RSPRY1_chr16_57181329_57245469 | 57218709 | TGCCACAT others(316): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00558.hp1 HG00621.hp1 others(65): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0055a0001c0001t0001g0074a0001c0001t0003g0312others(64): Show | 68 | 358 | 0.1899 | -323 | c.901 others(17): Show |
RSPRY1 | ENSG00000159579.14 | transcript | ENST00000394420.9 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SENP7_chr3_101319205_101518212 | 101469525 | TAAAAGAA others(316): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00438.hp1 others(160): Show |
a0001a0005a0006others(2): Show | a0001c0001a0001c0005a0005c0007others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(8): Show | a0001c0001t0001g0186a0001c0001t0001g0187a0001c0001t0001g0188others(160): Show | 163 | 370 | 0.4405 | -323 | c.187 others(19): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 3/23 | chr3 | TogoVar | ||||||
SFI1_chr22_31491536_31623588 | 31591944 | CGGGCAGG others(316): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(155): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0020a0001c0035others(15): Show | a0001c0001t0001a0001c0001t0004a0001c0020t0001others(16): Show | a0001c0001t0001g0109a0001c0001t0001g0130a0001c0001t0001g0181others(155): Show | 158 | 322 | 0.4907 | -323 | c.154 others(19): Show |
SFI1 | ENSG00000198089.16 | transcript | ENST00000400288.7 | protein_coding | 15/32 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
SGIP1_chr1_66529153_66756139 | 66742445 | ATATGAGC others(316): Show |
A | intron_variant | MODIFIER | HG02451.hp1 NA20300.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0022a0002c0002t0022 | a0001c0001t0022g0184a0002c0002t0022g0254 | 2 | 302 | 0.0066 | -323 | c.246 others(17): Show |
SGIP1 | ENSG00000118473.23 | transcript | ENST00000371037.9 | protein_coding | 24/24 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SLC12A7_chr5_1045384_1117063 | 1072255 | GGGCATCA others(316): Show |
G | intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0014 | 1 | 118 | 0.0085 | -323 | c.224 others(19): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | ||||||
SNX24_chr5_122840613_123014205 | 122938645 | TAAAAGGC others(316): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00609.hp1 HG01515.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(3): Show | a0001c0001t0002g0199a0001c0001t0004g0241a0001c0001t0004g0242others(15): Show | 18 | 330 | 0.0546 | -323 | c.144 others(17): Show |
SNX24 | ENSG00000064652.11 | transcript | ENST00000261369.9 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SNX24_chr5_122840613_123014205 | 122938659 | GGCCGGGC others(316): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(281): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0016others(279): Show | 284 | 330 | 0.8606 | -323 | c.144 others(17): Show |
SNX24 | ENSG00000064652.11 | transcript | ENST00000261369.9 | protein_coding | 2/6 | chr5 | TogoVar | ||||||
TBC1D22B_chr6_37252772_37337970 | 37327177 | TAAAAAAT others(316): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00438.hp2 others(64): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(7): Show | a0001c0001t0002g0194a0001c0001t0002g0195a0001c0001t0003g0112others(62): Show | 67 | 222 | 0.3018 | -323 | c.139 others(19): Show |
TBC1D22B | ENSG00000065491.8 | transcript | ENST00000373491.3 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
TCF25_chr16_89868592_89916379 | 89888140 | TCTGTAAT others(316): Show |
T | intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 300 | 0.0033 | -323 | c.614 others(15): Show |
TCF25 | ENSG00000141002.20 | transcript | ENST00000263346.13 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
TENM3_chr4_182238402_182808024 | 182650409 | TCAGTTCT others(316): Show |
T | intron_variant | MODIFIER | HG01169.hp2 HG01192.hp2 HG02559.hp2 others(6): Show |
a0001 | a0001c0008a0001c0015a0001c0016others(2): Show | a0001c0008t0001a0001c0015t0001a0001c0016t0001others(2): Show | a0001c0008t0001g0009a0001c0008t0001g0011a0001c0008t0001g0080others(6): Show | 9 | 140 | 0.0643 | -323 | c.989 others(17): Show |
TENM3 | ENSG00000218336.9 | transcript | ENST00000511685.6 | protein_coding | 5/27 | chr4 | TogoVar | ||||||
TF_chr3_133741393_133801641 | 133785300 | GGGGGGTC others(316): Show |
G | 3_prime_UTR_variant | MODIFIER | HG00735.hp2 HG00741.hp1 HG03831.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0049a0001c0003t0049a0001c0003t0121 | a0001c0001t0049g0103a0001c0003t0049g0218a0001c0003t0121g0111 | 3 | 402 | 0.0075 | -323 | c.*66 others(11): Show |
TF | ENSG00000091513.16 | transcript | ENST00000402696.9 | protein_coding | 17/17 | 6686 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||
TSBP1_chr6_32287698_32376903 | 32345991 | TGTCATAT others(316): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(347): Show |
a0001a0002a0003others(10): Show | a0001c0001a0002c0002a0002c0015others(11): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(30): Show | a0001c0001t0002g0008a0001c0001t0002g0044a0001c0001t0002g0045others(298): Show | 350 | 421 | 0.8314 | -323 | c.281 others(17): Show |
TSBP1 | ENSG00000204296.13 | transcript | ENST00000533191.6 | protein_coding | 9/25 | chr6 | TogoVar | ||||||
TUBGCP2_chr10_133273635_133313872 | 133292022 | CCTCTGTG others(316): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG03471.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0002 | a0001c0001t0001g0231a0002c0003t0002g0081 | 2 | 284 | 0.0070 | -323 | c.121 others(17): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar | ||||||
U2SURP_chr3_142996570_143065725 | 143046952 | CCTCCCCC others(316): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG02080.hp1 HG02145.hp1 others(24): Show |
a0001a0002a0005 | a0001c0001a0002c0003a0005c0009 | a0001c0001t0004a0001c0001t0013a0001c0001t0018others(3): Show | a0001c0001t0004g0013a0001c0001t0004g0014a0001c0001t0004g0237others(23): Show | 27 | 378 | 0.0714 | -323 | c.254 others(19): Show |
U2SURP | ENSG00000163714.18 | transcript | ENST00000473835.7 | protein_coding | 24/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
WDFY4_chr10_48679873_48987956 | 48709111 | TAAGAGCA others(316): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00558.hp1 others(192): Show |
a0001a0002a0003others(90): Show | a0001c0001a0001c0007a0001c0100others(120): Show | a0001c0001t0001a0001c0001t0002a0001c0007t0001others(139): Show | a0001c0001t0001g0038a0001c0001t0001g0050a0001c0001t0001g0059others(192): Show | 195 | 202 | 0.9654 | -323 | c.-17 others(15): Show |
WDFY4 | ENSG00000128815.20 | transcript | ENST00000325239.12 | protein_coding | 1/61 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ZMYM2_chr13_19953727_20094115 | 20079874 | AGAATCAT others(316): Show |
A | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0027 | 1 | 286 | 0.0035 | -323 | c.345 others(19): Show |
ZMYM2 | ENSG00000121741.17 | transcript | ENST00000610343.5 | protein_coding | 21/24 | chr13 | TogoVar | ||||||
ZNF385D_chr3_21407218_21756210 | 21416005 | GCATGAAC others(316): Show |
G | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(195): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(100): Show | a0001c0001t0001g0068a0001c0001t0002g0022a0001c0001t0002g0023others(195): Show | 198 | 256 | 0.7734 | -323 | c.*48 others(11): Show |
ZNF385D | ENSG00000151789.13 | transcript | ENST00000281523.8 | protein_coding | 8/8 | 4886 | chr3 | TogoVar | |||||
ABR_chr17_998519_1184981 | 1159374 | TAAGAATG others(315): Show |
T | intron_variant | MODIFIER | HG00741.hp1 HG00741.hp2 HG01167.hp2 others(31): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(22): Show | a0001c0001t0001g0098a0001c0001t0001g0124a0001c0001t0001g0224others(31): Show | 34 | 337 | 0.1009 | -322 | c.61+ others(17): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | ||||||
ADGRL4_chr1_78884764_79011730 | 78935823 | TAAGAATA others(315): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(231): Show |
a0001a0006a0010others(2): Show | a0001c0001a0006c0010a0010c0014others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0004a0001c0001t0001g0007a0001c0001t0001g0008others(227): Show | 234 | 390 | 0.6000 | -322 | c.877 others(15): Show |
ADGRL4 | ENSG00000162618.15 | transcript | ENST00000370742.4 | protein_coding | 7/14 | chr1 | TogoVar | ||||||
ARHGAP24_chr4_85470150_86007666 | 85739602 | TCCACGTT others(315): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00423.hp1 others(91): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0015others(27): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0008others(91): Show | 94 | 108 | 0.8704 | -322 | c.268 others(19): Show |
ARHGAP24 | ENSG00000138639.18 | transcript | ENST00000395184.6 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ATP11A_chr13_112685038_112892168 | 112863757 | CAGCTTCT others(315): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00621.hp1 HG01496.hp2 others(4): Show |
a0001a0003 | a0001c0001a0001c0006a0003c0012 | a0001c0001t0001a0001c0001t0019a0001c0006t0001others(2): Show | a0001c0001t0001g0121a0001c0001t0019g0142a0001c0006t0001g0100others(4): Show | 7 | 254 | 0.0276 | -322 | c.299 others(19): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 25/29 | chr13 | TogoVar | ||||||
ATP11C_chrX_139721348_139938053 | 139859804 | TGAAAAGA others(315): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00597.hp2 others(94): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0008others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(18): Show | a0001c0001t0002g0057a0001c0001t0002g0067a0001c0001t0002g0070others(94): Show | 97 | 234 | 0.4145 | -322 | c.28- others(17): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 1/29 | chrX | TogoVar | ||||||
C2CD4C_chr19_400445_414147 | 404704 | GGGGGAAC others(315): Show |
G | downstream_gene_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0002 | a0001c0002t0132 | a0001c0002t0132g0141 | 1 | 322 | 0.0031 | -322 | c.*20 others(11): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 740 | chr19 | TogoVar | ||||||
C8orf34_chr8_68325955_68824023 | 68505432 | GAAAGAAT others(315): Show |
G | intron_variant | MODIFIER | HG01071.hp1 HG01081.hp2 HG01106.hp2 others(47): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0005others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(20): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(47): Show | 50 | 128 | 0.3906 | -322 | c.766 others(19): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CACNG7_chr19_53904278_53948950 | 53923274 | CAGTTGCC others(315): Show |
C | intron_variant | MODIFIER | HG02258.hp2 HG02572.hp2 HG02895.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011a0001c0001t0021 | a0001c0001t0001g0087a0001c0001t0001g0088a0001c0001t0001g0089others(2): Show | 5 | 364 | 0.0137 | -322 | c.424 others(17): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CALB1_chr8_90053608_90087879 | 90056945 | TTCAACTT others(315): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(241): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(90): Show | 244 | 384 | 0.6354 | -322 | c.*29 others(11): Show |
CALB1 | ENSG00000104327.7 | transcript | ENST00000265431.7 | protein_coding | 1662 | chr8 | TogoVar | ||||||
CAMK4_chr5_111219384_111499886 | 111359243 | ACTAATAG others(315): Show |
A | intron_variant | MODIFIER | NA18965.hp1 NA19000.hp1 |
a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0172a0001c0002t0006g0180 | 2 | 246 | 0.0081 | -322 | c.240 others(19): Show |
CAMK4 | ENSG00000152495.11 | transcript | ENST00000282356.9 | protein_coding | 2/10 | chr5 | TogoVar | ||||||
CAMK4_chr5_111219384_111499886 | 111359244 | CTAATAGT others(315): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00438.hp1 others(217): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(166): Show | a0001c0001t0001g0013a0001c0001t0001g0113a0001c0001t0001g0130others(217): Show | 220 | 246 | 0.8943 | -322 | c.240 others(19): Show |
CAMK4 | ENSG00000152495.11 | transcript | ENST00000282356.9 | protein_coding | 2/10 | chr5 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246620311 | ACTACAGG others(315): Show |
A | intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 320 | 0.0031 | -322 | c.380 others(16): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 148365860 | ACATGTAT others(315): Show |
A | intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0040 | 1 | 40 | 0.0250 | -322 | c.347 others(21): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 21/23 | chr7 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3795967 | TATCTATC others(315): Show |
T | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0020 | a0001c0020t0016 | a0001c0020t0016g0065 | 1 | 126 | 0.0079 | -322 | c.819 others(19): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | ||||||
DECR1_chr8_89996477_90058633 | 90056945 | TTCAACTT others(315): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(233): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(140): Show | 236 | 378 | 0.6243 | -322 | c.*50 others(11): Show |
DECR1 | ENSG00000104325.7 | transcript | ENST00000220764.7 | protein_coding | 3313 | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1393147 | TGCCACCT others(315): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG01361.hp1 HG02258.hp1 others(4): Show |
a0001a0002 | a0001c0002a0001c0009a0002c0001 | a0001c0002t0001a0001c0002t0002a0001c0002t0022others(3): Show | a0001c0002t0001g0015a0001c0002t0001g0019a0001c0002t0002g0021others(4): Show | 7 | 40 | 0.1750 | -322 | c.107 others(21): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 1395103 | GTGTATTG others(315): Show |
G | intron_variant | MODIFIER | HG02922.hp2 HG02976.hp1 HG03486.hp1 |
a0002 | a0002c0001 | a0002c0001t0002a0002c0001t0005a0002c0001t0019 | a0002c0001t0002g0032a0002c0001t0005g0035a0002c0001t0019g0030 | 3 | 40 | 0.0750 | -322 | c.107 others(21): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 1404697 | GTCCTCCA others(315): Show |
G | intron_variant | MODIFIER | HG02258.hp1 | a0002 | a0002c0001 | a0002c0001t0005 | a0002c0001t0005g0028 | 1 | 40 | 0.0250 | -322 | c.107 others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1085899 | GTTGTTGT others(315): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00544.hp2 others(33): Show |
a0001a0002a0007 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0003a0001c0001t0008a0001c0001t0009others(30): Show | a0001c0001t0003g0029a0001c0001t0008g0010a0001c0001t0009g0007others(33): Show | 36 | 162 | 0.2222 | -322 | c.108 others(19): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |