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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPIC_chr12_101470336_101491997 | 101478888 | GCACTTTG others(44): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG02698.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100a0001c0001t0001g0101a0001c0001t0001g0102 | 3 | 398 | 0.0075 | -51 | c.98- others(64): Show |
SPIC | ENSG00000166211.8 | transcript | ENST00000551346.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
SPPL2B_chr19_2323684_2360095 | 2347532 | ACACACTC others(44): Show |
A | intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0268 | 1 | 414 | 0.0024 | -51 | c.135 others(70): Show |
SPPL2B | ENSG00000005206.17 | transcript | ENST00000613503.5 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
SPTLC3_chr20_13003972_13174103 | 13167302 | ATAATTAT others(44): Show |
A | 3_prime_UTR_variant | MODIFIER | HG01071.hp2 HG02015.hp2 HG02071.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0033a0001c0001t0039a0001c0001t0045others(4): Show | a0001c0001t0033g0045a0001c0001t0039g0121a0001c0001t0045g0163others(4): Show | 7 | 292 | 0.0240 | -51 | c.*24 others(62): Show |
SPTLC3 | ENSG00000172296.13 | transcript | ENST00000399002.7 | protein_coding | 12/12 | 2447 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||
SRGAP2C_chr1_121179975_121397874 | 121396573 | CGGCTTTT others(44): Show |
C | downstream_gene_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 274 | 0.0037 | -51 | c.*87 others(62): Show |
SRGAP2C | ENSG00000171943.12 | transcript | ENST00000367123.8 | protein_coding | 3700 | chr1 | TogoVar | ||||||
SSBP3_chr1_54220432_54411394 | 54240076 | GTGTGTGT others(44): Show |
G | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0116 | 1 | 280 | 0.0036 | -51 | c.856 others(66): Show |
SSBP3 | ENSG00000157216.17 | transcript | ENST00000610401.6 | protein_coding | 13/17 | chr1 | TogoVar | ||||||
ST6GAL2_chr2_106796600_106891167 | 106834520 | AGCAAGGG others(44): Show |
A | intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0347 | 1 | 372 | 0.0027 | -51 | c.944 others(66): Show |
ST6GAL2 | ENSG00000144057.16 | transcript | ENST00000409382.8 | protein_coding | 2/5 | chr2 | TogoVar | ||||||
ST8SIA1_chr12_22188391_22339707 | 22320952 | AGAAAGAG others(44): Show |
A | intron_variant | MODIFIER | HG02145.hp2 HG02970.hp2 HG03453.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0034a0001c0001t0147a0001c0001t0158 | a0001c0001t0034g0086a0001c0001t0034g0087a0001c0001t0147g0088others(1): Show | 4 | 282 | 0.0142 | -51 | c.236 others(70): Show |
ST8SIA1 | ENSG00000111728.11 | transcript | ENST00000396037.9 | protein_coding | 1/4 | chr12 | TogoVar | ||||||
STON1_chr2_48525154_48603513 | 48564456 | TTCTTCTT others(44): Show |
T | intron_variant | MODIFIER | HG02976.hp2 HG03195.hp2 |
a0004 | a0004c0007 | a0004c0007t0001a0004c0007t0012 | a0004c0007t0001g0265a0004c0007t0012g0266 | 2 | 376 | 0.0053 | -51 | c.-47 others(70): Show |
STON1 | ENSG00000243244.7 | transcript | ENST00000404752.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
STX2_chr12_130784600_130844250 | 130843368 | ATATATAT others(44): Show |
A | upstream_gene_variant | MODIFIER | HG02451.hp1 HG06807.hp2 |
a0002 | a0002c0002 | a0002c0002t0035a0002c0002t0037 | a0002c0002t0035g0334a0002c0002t0037g0333 | 2 | 380 | 0.0053 | -51 | c.-43 others(62): Show |
STX2 | ENSG00000111450.15 | transcript | ENST00000392373.7 | protein_coding | 4119 | chr12 | TogoVar | ||||||
SUFU_chr10_102498972_102638535 | 102568892 | AAAAAAAT others(44): Show |
A | intron_variant | MODIFIER | HG00733.hp1 HG01346.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0021 | a0001c0001t0001g0154a0001c0001t0021g0153 | 2 | 268 | 0.0075 | -51 | c.454 others(70): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
SULT4A1_chr22_43819509_43867513 | 43822742 | AGTGTGTG others(44): Show |
A | downstream_gene_variant | MODIFIER | HG02135.hp1 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0256a0001c0001t0004g0102 | 2 | 386 | 0.0052 | -51 | c.*32 others(62): Show |
SULT4A1 | ENSG00000130540.14 | transcript | ENST00000330884.9 | protein_coding | 1766 | chr22 | TogoVar | ||||||
SUPT20HL2_chrX_24303210_24319069 | 24311767 | AAGCAGGA others(44): Show |
A | conservative_inframe_deletion | MODERATE | HG01928.hp1 | a0010 | a0010c0019 | a0010c0019t0001 | a0010c0019t0001g0000 | 1 | 293 | 0.0034 | -51 | c.149 others(60): Show |
p.Val others(13): Show |
SUPT20HL2 | ENSG00000223611.7 | transcript | ENST00000486479.3 | protein_coding | 1/1 | 2302/5860 | 1498/2454 | 500/817 | chrX | TogoVar | ||
SYNE3_chr14_95402266_95521650 | 95423552 | CATGGGGA others(44): Show |
C | intron_variant | MODIFIER | HG02040.hp1 HG02451.hp2 HG03195.hp1 others(6): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0019a0001c0039others(4): Show | a0001c0001t0001a0001c0001t0049a0001c0001t0208others(6): Show | a0001c0001t0001g0261a0001c0001t0049g0023a0001c0001t0208g0011others(6): Show | 9 | 384 | 0.0234 | -51 | c.272 others(70): Show |
SYNE3 | ENSG00000176438.13 | transcript | ENST00000682763.1 | protein_coding | 17/17 | chr14 | TogoVar | ||||||
SYNE3_chr14_95402266_95521650 | 95423862 | GGGATTTG others(44): Show |
G | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG02056.hp1 others(2): Show |
a0001a0004a0006others(1): Show | a0001c0077a0004c0005a0006c0025others(1): Show | a0001c0077t0104a0004c0005t0105a0006c0025t0055others(1): Show | a0001c0077t0104g0132a0004c0005t0105g0116a0006c0025t0055g0160others(2): Show | 5 | 384 | 0.0130 | -51 | c.272 others(70): Show |
SYNE3 | ENSG00000176438.13 | transcript | ENST00000682763.1 | protein_coding | 17/17 | chr14 | TogoVar | ||||||
SYNE3_chr14_95402266_95521650 | 95423865 | ATTTGATG others(44): Show |
A | intron_variant | MODIFIER | HG01993.hp2 NA18942.hp1 NA18946.hp1 others(5): Show |
a0004a0005a0006 | a0004c0003a0004c0005a0005c0009others(1): Show | a0004c0003t0013a0004c0005t0019a0005c0009t0013others(2): Show | a0004c0003t0013g0120a0004c0003t0013g0179a0004c0005t0019g0205others(5): Show | 8 | 384 | 0.0208 | -51 | c.272 others(70): Show |
SYNE3 | ENSG00000176438.13 | transcript | ENST00000682763.1 | protein_coding | 17/17 | chr14 | TogoVar | ||||||
SYNE3_chr14_95402266_95521650 | 95423879 | GGGTTTTG others(44): Show |
G | intron_variant | MODIFIER | HG02080.hp2 HG03225.hp2 NA18948.hp1 |
a0006a0030 | a0006c0016a0006c0018a0030c0074 | a0006c0016t0158a0006c0018t0004a0030c0074t0117 | a0006c0016t0158g0243a0006c0018t0004g0113a0030c0074t0117g0359 | 3 | 384 | 0.0078 | -51 | c.272 others(70): Show |
SYNE3 | ENSG00000176438.13 | transcript | ENST00000682763.1 | protein_coding | 17/17 | chr14 | TogoVar | ||||||
SYNJ2_chr6_157976863_158104176 | 158095350 | TCTGATTA others(44): Show |
T | intron_variant | MODIFIER | HG03139.hp1 | a0002 | a0002c0036 | a0002c0036t0025 | a0002c0036t0025g0034 | 1 | 312 | 0.0032 | -51 | c.374 others(68): Show |
SYNJ2 | ENSG00000078269.15 | transcript | ENST00000355585.9 | protein_coding | 26/26 | chr6 | TogoVar | ||||||
SYNPR_chr3_63273308_63621924 | 63408177 | AGAAAGAA others(44): Show |
A | intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0106 | 1 | 246 | 0.0041 | -51 | c.85- others(68): Show |
SYNPR | ENSG00000163630.11 | transcript | ENST00000478300.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SYT17_chr16_19163240_19273332 | 19252391 | ATACATAT others(44): Show |
A | intron_variant | MODIFIER | HG02257.hp1 HG02559.hp1 HG02572.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0012a0001c0001t0014others(1): Show | a0001c0001t0008g0083a0001c0001t0012g0226a0001c0001t0014g0006others(2): Show | 5 | 324 | 0.0154 | -51 | c.122 others(72): Show |
SYT17 | ENSG00000103528.17 | transcript | ENST00000355377.7 | protein_coding | 7/7 | chr16 | TogoVar | ||||||
SYTL3_chr6_158645054_158769871 | 158704814 | AGTGACAG others(44): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(97): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0012a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(12): Show | a0001c0001t0001g0041a0001c0001t0001g0055a0001c0001t0001g0084others(97): Show | 100 | 292 | 0.3425 | -51 | c.395 others(68): Show |
SYTL3 | ENSG00000164674.17 | transcript | ENST00000611299.5 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SYTL3_chr6_158645054_158769871 | 158704960 | AGGGCAGG others(44): Show |
A | intron_variant | MODIFIER | HG01256.hp2 HG01258.hp2 |
a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0122a0004c0003t0001g0123 | 2 | 292 | 0.0069 | -51 | c.395 others(68): Show |
SYTL3 | ENSG00000164674.17 | transcript | ENST00000611299.5 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SYTL3_chr6_158645054_158769871 | 158705117 | ACAGGGTG others(44): Show |
A | intron_variant | MODIFIER | HG01515.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0151 | 1 | 292 | 0.0034 | -51 | c.395 others(68): Show |
SYTL3 | ENSG00000164674.17 | transcript | ENST00000611299.5 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
TACR3_chr4_103581031_103724985 | 103650673 | TATATTAT others(44): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00423.hp2 others(55): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0020a0001c0001t0001g0103a0001c0001t0001g0127others(55): Show | 58 | 280 | 0.2071 | -51 | c.888 others(68): Show |
TACR3 | ENSG00000169836.5 | transcript | ENST00000304883.3 | protein_coding | 3/4 | chr4 | TogoVar | ||||||
TACR3_chr4_103581031_103724985 | 103650681 | ATCATATA others(44): Show |
A | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0149 | 1 | 280 | 0.0036 | -51 | c.888 others(68): Show |
TACR3 | ENSG00000169836.5 | transcript | ENST00000304883.3 | protein_coding | 3/4 | chr4 | TogoVar | ||||||
TAF4B_chr18_26221445_26396685 | 26303044 | TCCTCCAC others(44): Show |
T | intron_variant | MODIFIER | HG02809.hp2 | a0014 | a0014c0022 | a0014c0022t0002 | a0014c0022t0002g0187 | 1 | 274 | 0.0037 | -51 | c.183 others(70): Show |
TAF4B | ENSG00000141384.13 | transcript | ENST00000269142.10 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
TAFA1_chr3_67999247_68550621 | 68418418 | CTTAAGGG others(44): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp2 HG00639.hp1 others(65): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0042a0001c0001t0001g0044a0001c0001t0001g0047others(65): Show | 68 | 156 | 0.4359 | -51 | c.259 others(68): Show |
TAFA1 | ENSG00000183662.12 | transcript | ENST00000478136.6 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
TARBP1_chr1_234386313_234484179 | 234397427 | GGGGGAAG others(44): Show |
G | intron_variant | MODIFIER | HG02145.hp2 HG03098.hp1 |
a0001a0002 | a0001c0064a0002c0058 | a0001c0064t0001a0002c0058t0001 | a0001c0064t0001g0151a0002c0058t0001g0103 | 2 | 274 | 0.0073 | -51 | c.424 others(68): Show |
TARBP1 | ENSG00000059588.10 | transcript | ENST00000040877.2 | protein_coding | 26/29 | chr1 | TogoVar | ||||||
TBC1D22A_chr22_46757650_47180693 | 46859430 | GATAGAGG others(44): Show |
G | intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 112 | 0.0089 | -51 | c.638 others(70): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
TBC1D22A_chr22_46757650_47180693 | 46859620 | ACCAGAAT others(44): Show |
A | intron_variant | MODIFIER | HG02615.hp1 HG03195.hp2 HG03486.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(1): Show | a0001c0001t0002g0040a0001c0001t0004g0024a0001c0001t0006g0108others(1): Show | 4 | 112 | 0.0357 | -51 | c.638 others(70): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
TBC1D22A_chr22_46757650_47180693 | 46859795 | GGTCCGCG others(44): Show |
G | intron_variant | MODIFIER | HG02451.hp2 HG02809.hp1 HG02895.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0023 | a0001c0001t0005g0041a0001c0001t0005g0104a0001c0001t0005g0105others(1): Show | 4 | 112 | 0.0357 | -51 | c.638 others(70): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
TBC1D22A_chr22_46757650_47180693 | 46860014 | CGTGCCCC others(44): Show |
C | intron_variant | MODIFIER | HG02451.hp2 HG02809.hp1 HG02895.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0023 | a0001c0001t0005g0041a0001c0001t0005g0104a0001c0001t0005g0105others(1): Show | 4 | 112 | 0.0357 | -51 | c.638 others(70): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
TBC1D22A_chr22_46757650_47180693 | 46860097 | GATAGAGG others(44): Show |
G | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 112 | 0.0089 | -51 | c.638 others(70): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
TBC1D22A_chr22_46757650_47180693 | 46860133 | ACCAGAAT others(44): Show |
A | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0110 | 1 | 112 | 0.0089 | -51 | c.638 others(70): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
TBX22_chrX_80009753_80036774 | 80035012 | CATGGGTT others(44): Show |
C | downstream_gene_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 325 | 0.0031 | -51 | c.*39 others(62): Show |
TBX22 | ENSG00000122145.15 | transcript | ENST00000373296.8 | protein_coding | 3239 | chrX | TogoVar | ||||||
TBXAS1_chr7_139824264_140025293 | 139865585 | AAGGAGGA others(44): Show |
A | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 270 | 0.0037 | -51 | c.90- others(66): Show |
TBXAS1 | ENSG00000059377.19 | transcript | ENST00000448866.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
TCAF1_chr7_143846375_143907176 | 143859952 | ATTACGGA others(44): Show |
A | intron_variant | MODIFIER | NA18998.hp2 NA19009.hp2 NA19056.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0201a0001c0001t0001g0209a0001c0004t0001g0172 | 3 | 256 | 0.0117 | -51 | c.216 others(68): Show |
TCAF1 | ENSG00000198420.10 | transcript | ENST00000479870.6 | protein_coding | 6/8 | chr7 | TogoVar | ||||||
TCHH_chr1_152101317_152120444 | 152112018 | TGCTGCTC others(44): Show |
T | disruptive_inframe_deletion | MODERATE | HG00408.hp2 HG02132.hp1 |
a0049 | a0049c0054 | a0049c0054t0003 | a0049c0054t0003g0055 | 2 | 402 | 0.0050 | -51 | c.114 others(60): Show |
p.Leu others(13): Show |
TCHH | ENSG00000159450.13 | transcript | ENST00000614923.2 | protein_coding | 3/3 | 1283/6985 | 1148/5832 | 383/1943 | chr1 | TogoVar | ||
TECPR2_chr14_102357941_102507477 | 102379440 | GAAGATCA others(44): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG01081.hp2 HG02717.hp2 others(15): Show |
a0004 | a0004c0004 | a0004c0004t0006a0004c0004t0007a0004c0004t0043others(3): Show | a0004c0004t0006g0143a0004c0004t0006g0144a0004c0004t0006g0145others(15): Show | 18 | 334 | 0.0539 | -51 | c.219 others(68): Show |
TECPR2 | ENSG00000196663.16 | transcript | ENST00000359520.12 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
TECPR2_chr14_102357941_102507477 | 102379630 | CTAGTCAC others(44): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(103): Show |
a0001a0002a0006others(2): Show | a0001c0001a0001c0005a0001c0017others(5): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0035others(12): Show | a0001c0001t0001g0181a0001c0001t0001g0215a0001c0001t0001g0216others(103): Show | 106 | 334 | 0.3174 | -51 | c.219 others(68): Show |
TECPR2 | ENSG00000196663.16 | transcript | ENST00000359520.12 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
TECPR2_chr14_102357941_102507477 | 102379883 | TCCTAGTC others(44): Show |
T | intron_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0251 | 1 | 334 | 0.0030 | -51 | c.219 others(68): Show |
TECPR2 | ENSG00000196663.16 | transcript | ENST00000359520.12 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
TECTB_chr10_112278400_112310038 | 112300268 | AAGAAAGA others(44): Show |
A | intron_variant | MODIFIER | HG01099.hp2 HG01192.hp1 NA18960.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0190a0001c0001t0001g0191a0001c0001t0006g0011others(1): Show | 6 | 438 | 0.0137 | -51 | c.907 others(66): Show |
TECTB | ENSG00000119913.6 | transcript | ENST00000646139.2 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
TENM2_chr5_166974029_168269157 | 167859974 | CGCCCGGC others(44): Show |
C | intron_variant | MODIFIER | HG01192.hp2 HG02145.hp1 HG02818.hp1 others(6): Show |
a0001a0003a0004others(3): Show | a0001c0003a0001c0023a0001c0026others(6): Show | a0001c0003t0002a0001c0023t0008a0001c0026t0008others(6): Show | a0001c0003t0002g0007a0001c0023t0008g0004a0001c0026t0008g0005others(6): Show | 9 | 54 | 0.1667 | -51 | c.503 others(70): Show |
TENM2 | ENSG00000145934.17 | transcript | ENST00000518659.6 | protein_coding | 4/30 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
TEX19_chr17_82354247_82368775 | 82359746 | TCCCTCAG others(44): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG02559.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0004 | a0001c0001t0004g0011a0001c0001t0004g0012a0001c0001t0004g0054others(2): Show | 9 | 380 | 0.0237 | -51 | c.-27 others(68): Show |
TEX19 | ENSG00000182459.5 | transcript | ENST00000333437.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
TEX19_chr17_82354247_82368775 | 82360429 | TCAGGTTC others(44): Show |
T | intron_variant | MODIFIER | HG01993.hp2 | a0004 | a0004c0006 | a0004c0006t0002 | a0004c0006t0002g0058 | 1 | 380 | 0.0026 | -51 | c.-27 others(70): Show |
TEX19 | ENSG00000182459.5 | transcript | ENST00000333437.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
TEX19_chr17_82354247_82368775 | 82360712 | TCAGTTTC others(44): Show |
T | intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 380 | 0.0026 | -51 | c.-27 others(70): Show |
TEX19 | ENSG00000182459.5 | transcript | ENST00000333437.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
TEX55_chr3_119141165_119156456 | 119153640 | AGTATTCT others(44): Show |
A | downstream_gene_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0004 | 1 | 468 | 0.0021 | -51 | c.*23 others(62): Show |
TEX55 | ENSG00000163424.9 | transcript | ENST00000295622.6 | protein_coding | 2185 | chr3 | TogoVar | ||||||
TFAP2D_chr6_50708526_50778033 | 50757755 | CTATATAT others(44): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02257.hp2 HG02280.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0028a0001c0001t0003g0044a0001c0001t0003g0045others(1): Show | 4 | 334 | 0.0120 | -51 | c.113 others(70): Show |
TFAP2D | ENSG00000008197.5 | transcript | ENST00000008391.4 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
TFAP2E_chr1_35568314_35600328 | 35576928 | CGCGGGAC others(44): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00544.hp2 others(93): Show |
a0001a0003a0010 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0007a0001c0001t0001g0028a0001c0001t0001g0029others(65): Show | 96 | 370 | 0.2595 | -51 | c.562 others(68): Show |
TFAP2E | ENSG00000116819.9 | transcript | ENST00000373235.4 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
TFDP2_chr3_141939428_142154544 | 141968314 | TATATATA others(44): Show |
T | intron_variant | MODIFIER | HG01070.hp2 HG01256.hp2 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0022a0001c0001t0054 | a0001c0001t0022g0212a0001c0001t0022g0213a0001c0001t0054g0181 | 3 | 252 | 0.0119 | -51 | c.732 others(68): Show |
TFDP2 | ENSG00000114126.18 | transcript | ENST00000489671.6 | protein_coding | 9/12 | chr3 | TogoVar | ||||||
THEG_chr19_356747_381026 | 376771 | TGCCCCCA others(44): Show |
T | upstream_gene_variant | MODIFIER | NA18959.hp2 NA19003.hp2 NA19086.hp1 |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0005c0005t0004 | a0001c0001t0001g0351a0005c0005t0004g0013 | 3 | 370 | 0.0081 | -51 | c.-85 others(60): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 746 | chr19 | TogoVar |