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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DRC1_chr2_26396920_26461711 | 26398037 | CTTTTTTT others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00741.hp2 HG01496.hp1 HG02055.hp2 others(4): Show |
a0003a0011a0015 | a0003c0004a0003c0005a0003c0025others(2): Show | a0003c0004t0001a0003c0005t0003a0003c0025t0001others(2): Show | a0003c0004t0001g0360a0003c0005t0003g0358a0003c0005t0003g0359others(4): Show | 7 | 384 | 0.0182 | -9 | c.-39 others(20): Show |
DRC1 | ENSG00000157856.12 | transcript | ENST00000288710.7 | protein_coding | 3882 | chr2 | TogoVar | ||||||
DRC1_chr2_26396920_26461711 | 26399680 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00741.hp2 HG01496.hp1 HG02055.hp2 others(6): Show |
a0003a0011a0015others(1): Show | a0003c0004a0003c0005a0003c0025others(3): Show | a0003c0004t0001a0003c0005t0003a0003c0025t0001others(3): Show | a0003c0004t0001g0360a0003c0005t0003g0358a0003c0005t0003g0359others(6): Show | 9 | 384 | 0.0234 | -9 | c.-23 others(20): Show |
DRC1 | ENSG00000157856.12 | transcript | ENST00000288710.7 | protein_coding | 2239 | chr2 | TogoVar | ||||||
DRC1_chr2_26396920_26461711 | 26406813 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00735.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032a0001c0001t0001g0033a0001c0001t0001g0034others(4): Show | 7 | 384 | 0.0182 | -9 | c.155 others(26): Show |
DRC1 | ENSG00000157856.12 | transcript | ENST00000288710.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DRC1_chr2_26396920_26461711 | 26410245 | ATATTATT others(2): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG01109.hp2 HG01243.hp2 others(2): Show |
a0003a0011a0019 | a0003c0004a0011c0015a0019c0027 | a0003c0004t0001a0011c0015t0001a0019c0027t0001 | a0003c0004t0001g0328a0003c0004t0001g0329a0011c0015t0001g0016others(1): Show | 5 | 384 | 0.0130 | -9 | c.156 others(26): Show |
DRC1 | ENSG00000157856.12 | transcript | ENST00000288710.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DRC1_chr2_26396920_26461711 | 26429182 | GATGATTA others(2): Show |
G | intron_variant | MODIFIER | HG00558.hp2 HG01109.hp2 HG01168.hp2 others(41): Show |
a0001a0003a0007others(2): Show | a0001c0001a0001c0007a0003c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0007t0001others(9): Show | a0001c0001t0001g0334a0001c0001t0001g0336a0001c0001t0001g0338others(41): Show | 44 | 384 | 0.1146 | -9 | c.541 others(24): Show |
DRC1 | ENSG00000157856.12 | transcript | ENST00000288710.7 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DRC1_chr2_26396920_26461711 | 26429185 | GATTATTA others(2): Show |
G | intron_variant | MODIFIER | HG00673.hp2 NA18984.hp2 NA19043.hp2 others(2): Show |
a0002a0003 | a0002c0002a0003c0004 | a0002c0002t0001a0003c0004t0003 | a0002c0002t0001g0101a0002c0002t0001g0117a0002c0002t0001g0126others(2): Show | 5 | 384 | 0.0130 | -9 | c.541 others(24): Show |
DRC1 | ENSG00000157856.12 | transcript | ENST00000288710.7 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DRC3_chr17_17967862_18021889 | 17979584 | TACATCCT others(2): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02572.hp2 HG03486.hp2 |
a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0144a0006c0006t0001g0238a0006c0006t0001g0239 | 3 | 324 | 0.0093 | -9 | c.160 others(26): Show |
DRC3 | ENSG00000171962.19 | transcript | ENST00000399187.6 | protein_coding | 3/13 | chr17 | TogoVar | ||||||
DRC7_chr16_57689806_57736805 | 57712662 | GTTTTTTG others(2): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00597.hp1 others(56): Show |
a0002a0003a0005others(7): Show | a0002c0002a0003c0003a0003c0017others(10): Show | a0002c0002t0002a0003c0003t0001a0003c0003t0006others(11): Show | a0002c0002t0002g0118a0003c0003t0001g0002a0003c0003t0001g0009others(45): Show | 59 | 388 | 0.1521 | -9 | c.107 others(28): Show |
DRC7 | ENSG00000159625.15 | transcript | ENST00000360716.8 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
DRD2_chr11_113404605_113480398 | 113476120 | CTCTTTCT others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00621.hp2 HG00639.hp2 others(47): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0021others(5): Show | a0001c0001t0001g0086a0001c0001t0001g0087a0001c0001t0001g0164others(46): Show | 50 | 340 | 0.1471 | -9 | c.-10 others(20): Show |
DRD2 | ENSG00000149295.14 | transcript | ENST00000362072.8 | protein_coding | 723 | chr11 | TogoVar | ||||||
DRG1_chr22_31394604_31439452 | 31395942 | ATAGATAT others(2): Show |
A | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00609.hp2 HG01346.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0023a0001c0001t0001g0123others(8): Show | 12 | 350 | 0.0343 | -9 | c.-37 others(20): Show |
DRG1 | ENSG00000185721.13 | transcript | ENST00000331457.9 | protein_coding | 3661 | chr22 | TogoVar | ||||||
DRG1_chr22_31394604_31439452 | 31409843 | AATTAGTC others(2): Show |
A | intron_variant | MODIFIER | HG02572.hp2 HG02615.hp2 HG02647.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001a0001c0001t0002g0324 | 5 | 350 | 0.0143 | -9 | c.343 others(26): Show |
DRG1 | ENSG00000185721.13 | transcript | ENST00000331457.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
DRG2_chr17_18082948_18112969 | 18090389 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | NA18974.hp1 NA19055.hp1 NA19058.hp2 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0289a0001c0003t0003g0321a0001c0003t0003g0322 | 3 | 418 | 0.0072 | -9 | c.64+ others(24): Show |
DRG2 | ENSG00000108591.10 | transcript | ENST00000225729.8 | protein_coding | 1/12 | chr17 | TogoVar | ||||||
DRG2_chr17_18082948_18112969 | 18090391 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | NA18950.hp1 NA19001.hp1 NA19002.hp1 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0284a0001c0003t0003g0285a0001c0003t0003g0315 | 3 | 418 | 0.0072 | -9 | c.64+ others(24): Show |
DRG2 | ENSG00000108591.10 | transcript | ENST00000225729.8 | protein_coding | 1/12 | chr17 | TogoVar | ||||||
DRG2_chr17_18082948_18112969 | 18090395 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG01257.hp2 HG02486.hp1 HG02738.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0141a0001c0002t0002g0085a0001c0002t0002g0086 | 3 | 418 | 0.0072 | -9 | c.64+ others(24): Show |
DRG2 | ENSG00000108591.10 | transcript | ENST00000225729.8 | protein_coding | 1/12 | chr17 | TogoVar | ||||||
DRG2_chr17_18082948_18112969 | 18095387 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01934.hp1 HG02257.hp2 HG02970.hp1 others(5): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0002a0001c0001t0004a0001c0011t0004 | a0001c0001t0002g0047a0001c0001t0002g0328a0001c0001t0002g0329others(4): Show | 8 | 418 | 0.0191 | -9 | c.225 others(26): Show |
DRG2 | ENSG00000108591.10 | transcript | ENST00000225729.8 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DRICH1_chr22_23603452_23637321 | 23622905 | GACGTGAC others(2): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG02735.hp2 others(28): Show |
a0002a0003a0008 | a0002c0002a0003c0003a0008c0012 | a0002c0002t0004a0003c0003t0002a0003c0003t0004others(3): Show | a0002c0002t0004g0098a0002c0002t0004g0099a0003c0003t0002g0005others(21): Show | 31 | 446 | 0.0695 | -9 | c.299 others(24): Show |
DRICH1 | ENSG00000189269.13 | transcript | ENST00000317749.9 | protein_coding | 3/11 | chr22 | TogoVar | ||||||
DSC2_chr18_31053840_31107421 | 31074459 | GTGTGTGT others(2): Show |
G | intron_variant | MODIFIER | HG02809.hp1 HG02809.hp2 NA18991.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0010others(1): Show | a0001c0001t0001g0239a0001c0001t0005g0130a0001c0001t0010g0043others(1): Show | 4 | 380 | 0.0105 | -9 | c.188 others(26): Show |
DSC2 | ENSG00000134755.18 | transcript | ENST00000280904.11 | protein_coding | 12/15 | chr18 | TogoVar | ||||||
DSCAML1_chr11_117422772_117802216 | 117514572 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00621.hp2 HG01255.hp2 HG01993.hp1 others(10): Show |
a0001a0005 | a0001c0005a0001c0007a0001c0014others(2): Show | a0001c0005t0001a0001c0005t0002a0001c0005t0004others(5): Show | a0001c0005t0001g0084a0001c0005t0001g0190a0001c0005t0002g0144others(10): Show | 13 | 194 | 0.0670 | -9 | c.178 others(28): Show |
DSCAML1 | ENSG00000177103.15 | transcript | ENST00000651296.2 | protein_coding | 8/32 | chr11 | TogoVar | ||||||
DSCAML1_chr11_117422772_117802216 | 117577449 | CTTCCTTC others(2): Show |
C | intron_variant | MODIFIER | HG02896.hp1 HG03195.hp1 |
a0001 | a0001c0020 | a0001c0020t0001a0001c0020t0003 | a0001c0020t0001g0027a0001c0020t0003g0021 | 2 | 194 | 0.0103 | -9 | c.512 others(28): Show |
DSCAML1 | ENSG00000177103.15 | transcript | ENST00000651296.2 | protein_coding | 3/32 | chr11 | TogoVar | ||||||
DSCC1_chr8_119828976_119860894 | 119858600 | CATTATTA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG01106.hp1 HG01192.hp2 HG01884.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0004a0002c0002t0001 | a0001c0001t0002g0001a0001c0001t0002g0088a0001c0001t0004g0198others(2): Show | 9 | 378 | 0.0238 | -9 | c.-28 others(20): Show |
DSCC1 | ENSG00000136982.6 | transcript | ENST00000313655.5 | protein_coding | 2707 | chr8 | TogoVar | ||||||
DSEL_chr18_67501587_67521720 | 67506148 | CAAAAAAA others(2): Show |
C | downstream_gene_variant | MODIFIER | HG01256.hp1 HG02273.hp1 HG02572.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0012a0001c0001t0028others(1): Show | a0001c0001t0007g0005a0001c0001t0012g0015a0001c0001t0028g0034others(1): Show | 10 | 421 | 0.0238 | -9 | c.*48 others(20): Show |
DSEL | ENSG00000171451.15 | transcript | ENST00000310045.9 | protein_coding | 438 | chr18 | TogoVar | ||||||
DSG4_chr18_31371777_31419909 | 31375801 | TCAGAGAA others(2): Show |
T | upstream_gene_variant | MODIFIER | HG00609.hp2 HG00735.hp1 HG01081.hp1 others(32): Show |
a0001a0006 | a0001c0001a0001c0003a0001c0025others(2): Show | a0001c0001t0001a0001c0003t0003a0001c0003t0005others(3): Show | a0001c0001t0001g0042a0001c0001t0001g0204a0001c0001t0001g0206others(22): Show | 35 | 344 | 0.1017 | -9 | c.-11 others(20): Show |
DSG4 | ENSG00000175065.12 | transcript | ENST00000308128.9 | protein_coding | 975 | chr18 | TogoVar | ||||||
DSPP_chr4_87603529_87621873 | 87615390 | AACAGCAG others(2): Show |
A | disruptive_inframe_deletion | MODERATE | HG00558.hp2 HG00733.hp2 HG01109.hp1 others(52): Show |
a0007a0009a0019others(8): Show | a0007c0006a0007c0015a0007c0070others(13): Show | a0007c0006t0001a0007c0015t0001a0007c0070t0001others(13): Show | a0007c0006t0001g0016a0007c0006t0001g0017a0007c0006t0001g0018others(27): Show | 55 | 450 | 0.1222 | -9 | c.273 others(18): Show |
p.Ser others(13): Show |
DSPP | ENSG00000152591.15 | transcript | ENST00000651931.1 | protein_coding | 5/5 | 2859/4331 | 2739/3906 | 913/1301 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |
DSPP_chr4_87603529_87621873 | 87615491 | CAGCAGTG others(2): Show |
C | disruptive_inframe_deletion | MODERATE | HG00639.hp2 HG01167.hp1 HG01169.hp1 others(8): Show |
a0012a0018a0044 | a0012c0018a0012c0040a0018c0020others(1): Show | a0012c0018t0001a0012c0040t0001a0018c0020t0001others(1): Show | a0012c0018t0001g0014a0012c0040t0001g0014a0018c0020t0001g0013others(1): Show | 11 | 450 | 0.0244 | -9 | c.283 others(18): Show |
p.Ser others(13): Show |
DSPP | ENSG00000152591.15 | transcript | ENST00000651931.1 | protein_coding | 5/5 | 2958/4331 | 2838/3906 | 946/1301 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |
DSPP_chr4_87603529_87621873 | 87615821 | CAGCAGCA others(2): Show |
C | disruptive_inframe_deletion | MODERATE | HG02055.hp2 HG02647.hp1 HG02818.hp2 others(3): Show |
a0014 | a0014c0012 | a0014c0012t0001 | a0014c0012t0001g0022a0014c0012t0001g0080 | 6 | 450 | 0.0133 | -9 | c.316 others(18): Show |
p.Asn others(15): Show |
DSPP | ENSG00000152591.15 | transcript | ENST00000651931.1 | protein_coding | 5/5 | 3285/4331 | 3165/3906 | 1055/1301 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |
DSPP_chr4_87603529_87621873 | 87616071 | GACAGCAG others(2): Show |
G | disruptive_inframe_deletion | MODERATE | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(178): Show |
a0002a0003a0006others(13): Show | a0002c0002a0002c0043a0003c0003others(18): Show | a0002c0002t0001a0002c0043t0001a0003c0003t0001others(18): Show | a0002c0002t0001g0003a0002c0002t0001g0006a0002c0002t0001g0028others(35): Show | 181 | 450 | 0.4022 | -9 | c.341 others(18): Show |
p.Asn others(15): Show |
DSPP | ENSG00000152591.15 | transcript | ENST00000651931.1 | protein_coding | 5/5 | 3537/4331 | 3417/3906 | 1139/1301 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |
DSPP_chr4_87603529_87621873 | 87616079 | CAACAGCA others(2): Show |
C | conservative_inframe_deletion | MODERATE | HG01891.hp1 HG02055.hp1 NA19043.hp1 others(2): Show |
a0016 | a0016c0017 | a0016c0017t0001 | a0016c0017t0001g0023a0016c0017t0001g0055 | 5 | 450 | 0.0111 | -9 | c.341 others(18): Show |
p.Asn others(15): Show |
DSPP | ENSG00000152591.15 | transcript | ENST00000651931.1 | protein_coding | 5/5 | 3538/4331 | 3418/3906 | 1140/1301 | chr4 | TogoVar | ||
DSPP_chr4_87603529_87621873 | 87616145 | CAGCAGCG others(2): Show |
C | disruptive_inframe_deletion | MODERATE | HG00099.hp1 HG00738.hp1 HG01070.hp2 others(61): Show |
a0004a0010a0023others(2): Show | a0004c0005a0004c0010a0004c0011others(6): Show | a0004c0005t0001a0004c0010t0001a0004c0011t0001others(6): Show | a0004c0005t0001g0005a0004c0005t0001g0007a0004c0005t0001g0008others(17): Show | 64 | 450 | 0.1422 | -9 | c.349 others(18): Show |
p.Ser others(15): Show |
DSPP | ENSG00000152591.15 | transcript | ENST00000651931.1 | protein_coding | 5/5 | 3612/4331 | 3492/3906 | 1164/1301 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |
DSPP_chr4_87603529_87621873 | 87616226 | TAGCAGTG others(2): Show |
T | disruptive_inframe_deletion | MODERATE | NA18940.hp1 NA19062.hp1 NA19072.hp2 others(1): Show |
a0010 | a0010c0022 | a0010c0022t0001 | a0010c0022t0001g0007 | 4 | 450 | 0.0089 | -9 | c.357 others(18): Show |
p.Asp others(15): Show |
DSPP | ENSG00000152591.15 | transcript | ENST00000651931.1 | protein_coding | 5/5 | 3690/4331 | 3570/3906 | 1190/1301 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |
DSPP_chr4_87603529_87621873 | 87616295 | TGACAGCA others(2): Show |
T | disruptive_inframe_deletion | MODERATE | HG00639.hp2 HG01123.hp2 HG01175.hp2 others(9): Show |
a0010a0012a0028others(1): Show | a0010c0026a0012c0018a0012c0040others(2): Show | a0010c0026t0001a0012c0018t0001a0012c0040t0001others(2): Show | a0010c0026t0001g0007a0012c0018t0001g0014a0012c0040t0001g0014others(3): Show | 12 | 450 | 0.0267 | -9 | c.364 others(18): Show |
p.Asp others(15): Show |
DSPP | ENSG00000152591.15 | transcript | ENST00000651931.1 | protein_coding | 5/5 | 3762/4331 | 3642/3906 | 1214/1301 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |
DSPP_chr4_87603529_87621873 | 87616313 | TGACAGCA others(2): Show |
T | disruptive_inframe_deletion | MODERATE | HG01243.hp1 HG02970.hp2 HG03209.hp1 |
a0032a0054 | a0032c0035a0054c0069 | a0032c0035t0001a0054c0069t0001 | a0032c0035t0001g0030a0054c0069t0001g0058 | 3 | 450 | 0.0067 | -9 | c.366 others(18): Show |
p.Asp others(15): Show |
DSPP | ENSG00000152591.15 | transcript | ENST00000651931.1 | protein_coding | 5/5 | 3780/4331 | 3660/3906 | 1220/1301 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |
DSPP_chr4_87603529_87621873 | 87616352 | CAGCAATG others(2): Show |
C | disruptive_inframe_deletion | MODERATE | HG01243.hp1 HG02897.hp2 HG02970.hp2 others(1): Show |
a0032a0054a0056 | a0032c0035a0054c0069a0056c0071 | a0032c0035t0001a0054c0069t0001a0056c0071t0001 | a0032c0035t0001g0030a0054c0069t0001g0058a0056c0071t0001g0044 | 4 | 450 | 0.0089 | -9 | c.369 others(18): Show |
p.Asn others(15): Show |
DSPP | ENSG00000152591.15 | transcript | ENST00000651931.1 | protein_coding | 5/5 | 3815/4331 | 3695/3906 | 1232/1301 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |
DSTYK_chr1_205137505_205216702 | 205207755 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01071.hp2 HG02109.hp1 HG02622.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0013a0001c0002t0001a0001c0002t0025others(1): Show | a0001c0001t0013g0233a0001c0002t0001g0292a0001c0002t0001g0293others(8): Show | 11 | 348 | 0.0316 | -9 | c.265 others(26): Show |
DSTYK | ENSG00000133059.18 | transcript | ENST00000367162.8 | protein_coding | 1/12 | chr1 | TogoVar | ||||||
DST_chr6_56452996_56959830 | 56569331 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG02622.hp2 HG03041.hp1 HG03098.hp2 others(2): Show |
a0003a0014 | a0003c0004a0014c0011 | a0003c0004t0001a0014c0011t0001 | a0003c0004t0001g0024a0003c0004t0001g0025a0003c0004t0001g0031others(2): Show | 5 | 84 | 0.0595 | -9 | c.138 others(28): Show |
DST | ENSG00000151914.22 | transcript | ENST00000680361.1 | protein_coding | 54/103 | chr6 | TogoVar | ||||||
DST_chr6_56452996_56959830 | 56866952 | TTCTTATT others(2): Show |
T | intron_variant | MODIFIER | HG00597.hp2 HG02056.hp2 HG02071.hp1 others(4): Show |
a0001a0005a0029others(3): Show | a0001c0001a0005c0006a0029c0026others(3): Show | a0001c0001t0001a0005c0006t0001a0029c0026t0001others(3): Show | a0001c0001t0001g0048a0001c0001t0001g0084a0005c0006t0001g0007others(4): Show | 7 | 84 | 0.0833 | -9 | c.418 others(28): Show |
DST | ENSG00000151914.22 | transcript | ENST00000680361.1 | protein_coding | 3/103 | chr6 | TogoVar | ||||||
DST_chr6_56452996_56959830 | 56909009 | CCTTTACT others(2): Show |
C | intron_variant | MODIFIER | HG02809.hp2 HG03225.hp2 HG06807.hp1 |
a0001a0018a0041 | a0001c0001a0018c0021a0041c0031 | a0001c0001t0001a0018c0021t0001a0041c0031t0001 | a0001c0001t0001g0018a0018c0021t0001g0017a0041c0031t0001g0001 | 3 | 84 | 0.0357 | -9 | c.217 others(26): Show |
DST | ENSG00000151914.22 | transcript | ENST00000680361.1 | protein_coding | 2/103 | chr6 | TogoVar | ||||||
DTD1_chr20_18583054_18771644 | 18620588 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG01123.hp2 HG01884.hp2 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0221a0001c0001t0001g0228a0001c0001t0001g0229others(34): Show | 37 | 398 | 0.0930 | -9 | c.371 others(26): Show |
DTD1 | ENSG00000125821.13 | transcript | ENST00000377452.4 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
DTD1_chr20_18583054_18771644 | 18649326 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG01255.hp2 HG01515.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008a0001c0001t0020 | a0001c0001t0002g0001a0001c0001t0002g0085a0001c0001t0002g0102others(3): Show | 7 | 398 | 0.0176 | -9 | c.477 others(28): Show |
DTD1 | ENSG00000125821.13 | transcript | ENST00000377452.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
DTD1_chr20_18583054_18771644 | 18708235 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG03195.hp1 NA18982.hp1 NA19060.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0026 | a0001c0001t0001g0298a0001c0001t0001g0307a0001c0001t0001g0313others(1): Show | 4 | 398 | 0.0101 | -9 | c.478 others(28): Show |
DTD1 | ENSG00000125821.13 | transcript | ENST00000377452.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
DTD1_chr20_18583054_18771644 | 18708268 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG02071.hp2 HG02451.hp1 NA18990.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0025 | a0001c0001t0001g0239a0001c0001t0001g0335a0001c0001t0025g0217 | 3 | 398 | 0.0075 | -9 | c.478 others(28): Show |
DTD1 | ENSG00000125821.13 | transcript | ENST00000377452.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
DTD1_chr20_18583054_18771644 | 18766764 | AAAAAGAA others(2): Show |
A | downstream_gene_variant | MODIFIER | HG00544.hp2 HG00673.hp1 HG00741.hp2 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009 | a0001c0001t0002g0001a0001c0001t0002g0040a0001c0001t0002g0045others(28): Show | 32 | 398 | 0.0804 | -9 | c.*34 others(20): Show |
DTD1 | ENSG00000125821.13 | transcript | ENST00000377452.4 | protein_coding | 121 | chr20 | TogoVar | ||||||
DTNA_chr18_34705298_34896844 | 34749670 | TAATAATA others(2): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG00738.hp1 HG00738.hp2 others(81): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0001a0001c0001t0001g0014a0001c0001t0001g0026others(80): Show | 84 | 112 | 0.7500 | -9 | c.-1- others(24): Show |
DTNA | ENSG00000134769.23 | transcript | ENST00000444659.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
DTNB_chr2_25372243_25678577 | 25609699 | CACACACA others(2): Show |
C | intron_variant | MODIFIER | HG01071.hp1 HG01071.hp2 NA19090.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0047a0001c0001t0001g0062a0001c0002t0001g0026 | 3 | 168 | 0.0179 | -9 | c.363 others(26): Show |
DTNB | ENSG00000138101.20 | transcript | ENST00000406818.8 | protein_coding | 4/20 | chr2 | TogoVar | ||||||
DTX1_chr12_113051730_113103025 | 113079515 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(60): Show |
a0001 | a0001c0001a0001c0004a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0017a0001c0001t0001g0018a0001c0001t0001g0037others(52): Show | 63 | 338 | 0.1864 | -9 | c.941 others(26): Show |
DTX1 | ENSG00000135144.8 | transcript | ENST00000548759.2 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DUS3L_chr19_5780140_5796163 | 5796129 | GTCTTCTT others(2): Show |
G | upstream_gene_variant | MODIFIER | HG00738.hp1 HG01433.hp2 HG03540.hp2 others(4): Show |
a0002 | a0002c0001a0002c0013 | a0002c0001t0002a0002c0013t0002 | a0002c0001t0002g0001a0002c0001t0002g0024a0002c0001t0002g0064others(1): Show | 7 | 364 | 0.0192 | -9 | c.-49 others(20): Show |
DUS3L | ENSG00000141994.16 | transcript | ENST00000309061.12 | protein_coding | 4967 | chr19 | TogoVar | ||||||
DUSP14_chr17_37484891_37518498 | 37498314 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00544.hp1 others(81): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0023others(70): Show | 84 | 421 | 0.1995 | -9 | c.-18 others(28): Show |
DUSP14 | ENSG00000276023.5 | transcript | ENST00000617516.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DUSP15_chr20_31856077_31875527 | 31867631 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG00733.hp1 HG00735.hp1 HG00735.hp2 others(40): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0005 | a0001c0001t0001a0002c0002t0001a0002c0002t0005others(2): Show | a0001c0001t0001g0016a0001c0001t0001g0041a0001c0001t0001g0116others(11): Show | 43 | 378 | 0.1138 | -9 | c.56- others(22): Show |
DUSP15 | ENSG00000149599.16 | transcript | ENST00000339738.10 | protein_coding | 2/6 | chr20 | TogoVar | ||||||
DUSP16_chr12_12468282_12567863 | 12477731 | TGCACGCT others(2): Show |
T | disruptive_inframe_deletion | MODERATE | HG00408.hp2 HG00423.hp1 HG00544.hp1 others(86): Show |
a0002a0009 | a0002c0002a0002c0003a0002c0013others(1): Show | a0002c0002t0003a0002c0002t0004a0002c0002t0011others(13): Show | a0002c0002t0003g0007a0002c0002t0003g0016a0002c0002t0003g0017others(83): Show | 89 | 352 | 0.2528 | -9 | c.109 others(18): Show |
p.Pro others(13): Show |
DUSP16 | ENSG00000111266.9 | transcript | ENST00000298573.9 | protein_coding | 7/7 | 2211/6661 | 1091/1998 | 364/665 | chr12 | TogoVar | ||
DUSP16_chr12_12468282_12567863 | 12485786 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(44): Show |
a0001a0004 | a0001c0001a0001c0004a0004c0006 | a0001c0001t0002a0001c0001t0008a0001c0001t0030others(5): Show | a0001c0001t0002g0004a0001c0001t0002g0109a0001c0001t0002g0119others(43): Show | 47 | 352 | 0.1335 | -9 | c.691 others(26): Show |
DUSP16 | ENSG00000111266.9 | transcript | ENST00000298573.9 | protein_coding | 5/6 | chr12 | TogoVar | ||||||
DUSP16_chr12_12468282_12567863 | 12540944 | CTTTTCTT others(2): Show |
C | intron_variant | MODIFIER | HG02280.hp2 HG02451.hp1 HG02622.hp2 others(7): Show |
a0001a0002a0005 | a0001c0001a0002c0003a0005c0015 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(5): Show | a0001c0001t0001g0184a0001c0001t0002g0236a0001c0001t0010g0338others(7): Show | 10 | 352 | 0.0284 | -9 | c.-36 others(30): Show |
DUSP16 | ENSG00000111266.9 | transcript | ENST00000298573.9 | protein_coding | 1/6 | chr12 | TogoVar |