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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MSR1_chr8_16102881_16197651 | 16189622 | A | ATATTTTA others(822): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01258.hp1 HG03834.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0034a0001c0001t0035 | a0001c0001t0001g0174a0001c0001t0034g0176a0001c0001t0035g0175 | 3 | 330 | 0.0091 | 829 | c.-5+ others(844): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | ||||||
NAALADL2_chr3_174854334_175815548 | 175670512 | A | AATTTATA others(822): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0002 | a0002c0005 | a0002c0005t0005 | a0002c0005t0005g0009 | 1 | 64 | 0.0156 | 829 | c.189 others(850): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
NEDD4L_chr18_58039226_58406539 | 58209261 | T | TCCTCCCC others(822): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 118 | 0.0085 | 829 | c.123 others(848): Show |
NEDD4L | ENSG00000049759.20 | transcript | ENST00000400345.8 | protein_coding | 2/30 | chr18 | TogoVar | ||||||
OGDHL_chr10_49729641_49767323 | 49742423 | C | CACACCAC others(822): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00544.hp2 HG00639.hp1 others(62): Show |
a0002a0004a0006others(1): Show | a0002c0003a0002c0006a0002c0015others(5): Show | a0002c0003t0001a0002c0003t0004a0002c0003t0009others(8): Show | a0002c0003t0001g0003a0002c0003t0001g0004a0002c0003t0001g0033others(38): Show | 65 | 316 | 0.2057 | 829 | c.201 others(846): Show |
OGDHL | ENSG00000197444.10 | transcript | ENST00000374103.9 | protein_coding | 15/22 | chr10 | TogoVar | ||||||
OGDHL_chr10_49729641_49767323 | 49742423 | C | CACACCAC others(822): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00609.hp2 HG00741.hp1 others(65): Show |
a0001a0005 | a0001c0002a0001c0005a0001c0012others(1): Show | a0001c0002t0001a0001c0002t0003a0001c0005t0003others(2): Show | a0001c0002t0001g0002a0001c0002t0001g0006a0001c0002t0001g0007others(36): Show | 68 | 316 | 0.2152 | 829 | c.201 others(846): Show |
OGDHL | ENSG00000197444.10 | transcript | ENST00000374103.9 | protein_coding | 15/22 | chr10 | TogoVar | ||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(822): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02258.hp2 HG02970.hp1 others(5): Show |
a0007 | a0007c0007 | a0007c0007t0001a0007c0007t0002 | a0007c0007t0001g0123a0007c0007t0001g0143a0007c0007t0002g0300others(5): Show | 8 | 308 | 0.0260 | 829 | c.371 others(846): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | ||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(822): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0039 | a0039c0054 | a0039c0054t0001 | a0039c0054t0001g0067 | 1 | 308 | 0.0033 | 829 | c.371 others(846): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | ||||||
RBPMS_chr8_30379541_30577256 | 30388407 | T | TTATAGCT others(822): Show |
intron_variant | MODIFIER | HG01358.hp2 HG01496.hp2 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0145a0001c0001t0012g0146 | 2 | 304 | 0.0066 | 829 | c.66+ others(844): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
RBPMS_chr8_30379541_30577256 | 30388407 | T | TTATAGCT others(822): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 304 | 0.0033 | 829 | c.66+ others(844): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
RBPMS_chr8_30379541_30577256 | 30388438 | T | TTATAGCT others(822): Show |
intron_variant | MODIFIER | HG03831.hp2 NA18944.hp2 NA18968.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147a0001c0001t0001g0148a0001c0001t0001g0149 | 3 | 304 | 0.0099 | 829 | c.66+ others(844): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
RBPMS_chr8_30379541_30577256 | 30388438 | T | TTATAGCT others(822): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0180 | 1 | 304 | 0.0033 | 829 | c.66+ others(844): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
RBPMS_chr8_30379541_30577256 | 30388469 | T | TTATAGCT others(822): Show |
intron_variant | MODIFIER | NA18957.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 304 | 0.0033 | 829 | c.66+ others(844): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
RBPMS_chr8_30379541_30577256 | 30388469 | T | TTATAGCT others(822): Show |
intron_variant | MODIFIER | HG01981.hp1 HG01993.hp1 HG02818.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0185a0001c0001t0001g0186a0001c0001t0001g0187others(4): Show | 7 | 304 | 0.0230 | 829 | c.66+ others(844): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
RBPMS_chr8_30379541_30577256 | 30388495 | A | ATAACTTA others(822): Show |
intron_variant | MODIFIER | HG02922.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0227a0001c0001t0001g0228 | 2 | 304 | 0.0066 | 829 | c.66+ others(844): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
RBPMS_chr8_30379541_30577256 | 30388495 | A | ATAACTTA others(822): Show |
intron_variant | MODIFIER | HG02630.hp2 NA18906.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0025 | a0001c0001t0001g0237a0001c0001t0004g0238a0001c0001t0025g0239 | 3 | 304 | 0.0099 | 829 | c.66+ others(844): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
RBPMS_chr8_30379541_30577256 | 30388495 | A | ATAACTTA others(822): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01192.hp2 HG01346.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0245a0001c0001t0001g0246a0001c0001t0001g0247others(4): Show | 7 | 304 | 0.0230 | 829 | c.66+ others(844): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
RNF213_chr17_80255852_80403794 | 80274587 | T | TGGGGGGT others(822): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01496.hp2 HG01993.hp1 others(4): Show |
a0001a0047 | a0001c0001a0001c0004a0047c0095 | a0001c0001t0001a0001c0001t0002a0001c0004t0014others(2): Show | a0001c0001t0001g0112a0001c0001t0001g0126a0001c0001t0002g0115others(4): Show | 7 | 292 | 0.0240 | 829 | c.261 others(846): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 3/67 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RUNX1_chr21_34782801_35054302 | 34931569 | A | ATGTATAC others(822): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0006 | a0001c0006t0006 | a0001c0006t0006g0134 | 1 | 170 | 0.0059 | 829 | c.59- others(846): Show |
RUNX1 | ENSG00000159216.19 | transcript | ENST00000675419.1 | protein_coding | 2/8 | chr21 | TogoVar | ||||||
SBNO2_chr19_1102638_1179268 | 1164823 | G | GGAGAGGA others(822): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0000 | a0000c0014 | a0000c0014t0001 | a0000c0014t0001g0002 | 1 | 203 | 0.0049 | 829 | c.-12 others(848): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | ||||||
SBNO2_chr19_1102638_1179268 | 1164823 | G | GGAGGAGG others(822): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0089 | 1 | 203 | 0.0049 | 829 | c.-12 others(848): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | ||||||
SBNO2_chr19_1102638_1179268 | 1164823 | G | GGAGGAGG others(822): Show |
intron_variant | MODIFIER | HG01255.hp2 HG04184.hp1 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0051a0001c0005t0001g0123 | 2 | 203 | 0.0099 | 829 | c.-12 others(848): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | ||||||
SBNO2_chr19_1102638_1179268 | 1164823 | G | GGAGGAGG others(822): Show |
intron_variant | MODIFIER | HG01106.hp2 HG02451.hp1 HG02451.hp2 others(3): Show |
a0001 | a0001c0004a0001c0010a0001c0011 | a0001c0004t0001a0001c0010t0001a0001c0011t0001 | a0001c0004t0001g0001a0001c0004t0001g0036a0001c0004t0001g0038others(3): Show | 6 | 203 | 0.0296 | 829 | c.-12 others(848): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | ||||||
SCHIP1_chr3_159268244_159902359 | 159680730 | A | AATATACA others(822): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 100 | 0.0100 | 829 | c.64- others(846): Show |
SCHIP1 | ENSG00000283154.3 | transcript | ENST00000638749.2 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SMYD3_chr1_245744347_246512279 | 246325241 | C | CGGGGGGG others(822): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0112 | 1 | 150 | 0.0067 | 829 | c.531 others(846): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
TAS2R4_chr7_141771674_141786691 | 141780979 | T | TAAGAACT others(822): Show |
3_prime_UTR_variant | MODIFIER | HG00408.hp1 HG02015.hp1 HG02155.hp1 others(21): Show |
a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0000 | 24 | 446 | 0.0538 | 829 | c.*16 others(840): Show |
TAS2R4 | ENSG00000127364.4 | transcript | ENST00000247881.4 | protein_coding | 1/1 | 1607 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||
TTC16_chr9_127711079_127736590 | 127720831 | T | TTCCCCCT others(822): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0007 | a0007c0007 | a0007c0007t0001 | a0007c0007t0001g0104 | 1 | 334 | 0.0030 | 829 | c.657 others(844): Show |
TTC16 | ENSG00000167094.16 | transcript | ENST00000373289.4 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
TTLL8_chr22_50013575_50063298 | 50028788 | G | GTCCTGAA others(822): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0089 | 1 | 224 | 0.0045 | 829 | c.225 others(848): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | ||||||
TXNDC16_chr14_52425596_52557505 | 52530564 | T | TATAATAA others(822): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0203 | 1 | 238 | 0.0042 | 829 | c.392 others(846): Show |
TXNDC16 | ENSG00000087301.9 | transcript | ENST00000281741.9 | protein_coding | 6/20 | chr14 | TogoVar | ||||||
ULK1_chr12_131889622_131928150 | 131917167 | C | CGGAGGCT others(822): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0012 | a0012c0027 | a0012c0027t0001 | a0012c0027t0001g0098 | 1 | 344 | 0.0029 | 829 | c.218 others(846): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ZBTB8A_chr1_32534427_32610941 | 32581182 | T | TTATATAT others(822): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02818.hp1 HG02895.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0010a0001c0001t0088others(1): Show | a0001c0001t0004g0284a0001c0001t0010g0283a0001c0001t0088g0280others(1): Show | 4 | 302 | 0.0133 | 829 | c.-1- others(846): Show |
ZBTB8A | ENSG00000160062.15 | transcript | ENST00000373510.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ABCC4_chr13_95014835_95306451 | 95025448 | A | AGACCCAT others(823): Show |
intron_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0227 | 1 | 248 | 0.0040 | 830 | c.387 others(849): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | ||||||
ACSF3_chr16_89088852_89161233 | 89158196 | A | ACACGCCT others(823): Show |
downstream_gene_variant | MODIFIER | HG01928.hp1 HG01978.hp1 |
a0003 | a0003c0007 | a0003c0007t0007 | a0003c0007t0007g0046a0003c0007t0007g0047 | 2 | 368 | 0.0054 | 830 | c.*39 others(841): Show |
ACSF3 | ENSG00000176715.17 | transcript | ENST00000614302.5 | protein_coding | 1964 | chr16 | TogoVar | ||||||
AFF2_chrX_148495617_149005663 | 148581249 | C | CATATACG others(823): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0003 | a0001c0003t0026 | a0001c0003t0026g0157 | 1 | 169 | 0.0059 | 830 | c.48- others(847): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
AHRR_chr5_316714_443285 | 318220 | C | CCAGCCTC others(823): Show |
upstream_gene_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0138 | 1 | 268 | 0.0037 | 830 | c.-36 others(841): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3493 | chr5 | TogoVar | ||||||
ASB9_chrX_15238987_15275083 | 15267555 | T | TAACACGG others(823): Show |
intron_variant | MODIFIER | HG02970.hp2 HG03139.hp1 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0022a0001c0001t0002g0119 | 3 | 336 | 0.0089 | 830 | c.94+ others(845): Show |
ASB9 | ENSG00000102048.16 | transcript | ENST00000380488.9 | protein_coding | 1/6 | chrX | TogoVar | ||||||
ASB9_chrX_15238987_15275083 | 15267555 | T | TAACATGG others(823): Show |
intron_variant | MODIFIER | NA19078.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0102 | 1 | 336 | 0.0030 | 830 | c.94+ others(845): Show |
ASB9 | ENSG00000102048.16 | transcript | ENST00000380488.9 | protein_coding | 1/6 | chrX | TogoVar | ||||||
ASB9_chrX_15238987_15275083 | 15267555 | T | TAACATGG others(823): Show |
intron_variant | MODIFIER | HG02809.hp2 HG02922.hp1 HG03041.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0005a0001c0001t0008g0039 | 5 | 336 | 0.0149 | 830 | c.94+ others(845): Show |
ASB9 | ENSG00000102048.16 | transcript | ENST00000380488.9 | protein_coding | 1/6 | chrX | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11487564 | A | AGACGGGG others(823): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0273 | 1 | 292 | 0.0034 | 830 | c.207 others(851): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATG7_chr3_11267397_11562665 | 11487564 | A | AGACGGGG others(823): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0080 | 1 | 292 | 0.0034 | 830 | c.207 others(851): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CCBE1_chr18_59425939_59702423 | 59473808 | C | CACTATTT others(823): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02257.hp2 HG03041.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0011 | a0001c0001t0003g0239a0001c0001t0005g0007a0001c0001t0005g0059others(2): Show | 5 | 242 | 0.0207 | 830 | c.266 others(847): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 3/10 | chr18 | TogoVar | ||||||
CCDC88C_chr14_91266323_91422820 | 91293493 | T | TCCTCACC others(823): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0029 | a0029c0067 | a0029c0067t0001 | a0029c0067t0001g0258 | 1 | 284 | 0.0035 | 830 | c.411 others(847): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | ||||||
CEP126_chr11_101910010_102006062 | 101925704 | G | GGTGCAGT others(823): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0036 | 1 | 336 | 0.0030 | 830 | c.248 others(847): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CEP126_chr11_101910010_102006062 | 101925704 | G | GGTGCAGT others(823): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0266 | 1 | 336 | 0.0030 | 830 | c.248 others(847): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CEP126_chr11_101910010_102006062 | 101925704 | G | GGTGCAGT others(823): Show |
intron_variant | MODIFIER | HG00673.hp2 NA19004.hp2 NA19084.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0027 | a0001c0001t0004g0281a0001c0001t0004g0292a0001c0001t0027g0209 | 3 | 336 | 0.0089 | 830 | c.248 others(847): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CEP126_chr11_101910010_102006062 | 101925704 | G | GGTGCAGT others(823): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0188 | 1 | 336 | 0.0030 | 830 | c.248 others(847): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20337583 | T | TGGGTGGG others(823): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0112 | 1 | 236 | 0.0042 | 830 | c.342 others(849): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
COG3_chr13_45459939_45541701 | 45485412 | A | ACCCCCCC others(823): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0186 | 1 | 342 | 0.0029 | 830 | c.844 others(847): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COG3_chr13_45459939_45541701 | 45485412 | A | ACCCCCCC others(823): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0188 | 1 | 342 | 0.0029 | 830 | c.844 others(847): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COG3_chr13_45459939_45541701 | 45485412 | A | ACCCCCCC others(823): Show |
intron_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0260 | 1 | 342 | 0.0029 | 830 | c.844 others(847): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COG3_chr13_45459939_45541701 | 45485412 | A | ACCCCCCC others(823): Show |
intron_variant | MODIFIER | NA18992.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0314 | 1 | 342 | 0.0029 | 830 | c.844 others(847): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |