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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AK5_chr1_77277019_77564966 | 77367615 | A | ATATGTTA others(42): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00735.hp1 HG01071.hp1 others(20): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(5): Show | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(20): Show | 23 | 284 | 0.0810 | 49 | c.891 others(68): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AK5_chr1_77277019_77564966 | 77367694 | T | TTACATAT others(42): Show |
intron_variant | MODIFIER | HG02071.hp2 HG02165.hp2 NA18953.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0150a0001c0001t0003g0166a0001c0001t0003g0191 | 3 | 284 | 0.0106 | 49 | c.891 others(68): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AK5_chr1_77277019_77564966 | 77367694 | T | TTATATAT others(42): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00609.hp1 others(41): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0078a0001c0001t0001g0111a0001c0001t0001g0258others(41): Show | 44 | 284 | 0.1549 | 49 | c.891 others(68): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AK5_chr1_77277019_77564966 | 77367694 | T | TTATATAT others(42): Show |
intron_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0189 | 1 | 284 | 0.0035 | 49 | c.891 others(68): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AKAP1_chr17_57080246_57126344 | 57091339 | A | ATGTGGCT others(42): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0009 | a0009c0021 | a0009c0021t0006 | a0009c0021t0006g0053 | 1 | 396 | 0.0025 | 49 | c.-25 others(66): Show |
AKAP1 | ENSG00000121057.13 | transcript | ENST00000337714.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ALG10B_chr12_38311774_38334721 | 38330468 | C | CCACCTCC others(42): Show |
downstream_gene_variant | MODIFIER | HG00741.hp1 HG02055.hp1 HG02109.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0029a0001c0001t0042 | a0001c0001t0006g0006a0001c0001t0006g0010a0001c0001t0029g0016others(1): Show | 19 | 452 | 0.0420 | 49 | c.*92 others(60): Show |
ALG10B | ENSG00000175548.9 | transcript | ENST00000308742.9 | protein_coding | 748 | chr12 | TogoVar | ||||||
ALLC_chr2_3653200_3707671 | 3690278 | C | CCCCCTCC others(42): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00642.hp1 HG00741.hp2 others(6): Show |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0002 | a0003c0003t0001g0009a0003c0003t0001g0132a0003c0003t0001g0135others(5): Show | 9 | 274 | 0.0329 | 49 | c.512 others(66): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALX4_chr11_44255440_44315139 | 44309154 | T | TCCCGCAG others(42): Show |
intron_variant | MODIFIER | NA19001.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0159 | 1 | 388 | 0.0026 | 49 | c.466 others(64): Show |
ALX4 | ENSG00000052850.8 | transcript | ENST00000652299.1 | protein_coding | 1/3 | chr11 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38441740 | A | ACATATAT others(42): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02109.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0004a0001c0005t0004 | a0001c0001t0004g0086a0001c0005t0004g0013 | 2 | 288 | 0.0069 | 49 | c.101 others(68): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 11/20 | chr7 | TogoVar | ||||||
ANAPC7_chr12_110367900_110408708 | 110381442 | T | TTATCCTG others(42): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 298 | 0.0034 | 49 | c.113 others(66): Show |
ANAPC7 | ENSG00000196510.14 | transcript | ENST00000455511.9 | protein_coding | 8/10 | chr12 | TogoVar | ||||||
ANGPT1_chr8_107244482_107502918 | 107370340 | A | AAGAAAGA others(42): Show |
intron_variant | MODIFIER | HG02155.hp1 HG02155.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0077a0001c0001t0008g0144 | 2 | 292 | 0.0069 | 49 | c.298 others(68): Show |
ANGPT1 | ENSG00000154188.10 | transcript | ENST00000517746.6 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
ANGPT1_chr8_107244482_107502918 | 107370340 | A | AAGAAAGA others(42): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0062 | 1 | 292 | 0.0034 | 49 | c.298 others(68): Show |
ANGPT1 | ENSG00000154188.10 | transcript | ENST00000517746.6 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
ANGPT1_chr8_107244482_107502918 | 107370340 | A | AAGAAAGA others(42): Show |
intron_variant | MODIFIER | HG02922.hp2 HG03927.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0267a0001c0001t0001g0277 | 2 | 292 | 0.0069 | 49 | c.298 others(68): Show |
ANGPT1 | ENSG00000154188.10 | transcript | ENST00000517746.6 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
ANGPT1_chr8_107244482_107502918 | 107370340 | A | AAGAAAGA others(42): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0009 | a0001c0001t0008g0275a0001c0001t0009g0102 | 2 | 292 | 0.0069 | 49 | c.298 others(68): Show |
ANGPT1 | ENSG00000154188.10 | transcript | ENST00000517746.6 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
ANGPTL5_chr11_101885674_101921522 | 101889450 | G | GAAAGAAA others(42): Show |
downstream_gene_variant | MODIFIER | HG02155.hp1 | a0006 | a0006c0005 | a0006c0005t0001 | a0006c0005t0001g0056 | 1 | 422 | 0.0024 | 49 | c.*18 others(60): Show |
ANGPTL5 | ENSG00000187151.7 | transcript | ENST00000334289.7 | protein_coding | 1223 | chr11 | TogoVar | ||||||
ANKIB1_chr7_92240974_92406383 | 92309942 | A | AAAAAAAA others(42): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0240 | 1 | 314 | 0.0032 | 49 | c.486 others(66): Show |
ANKIB1 | ENSG00000001629.10 | transcript | ENST00000265742.8 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ANKIB1_chr7_92240974_92406383 | 92309942 | A | AAAAAAAA others(42): Show |
intron_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0296 | 1 | 314 | 0.0032 | 49 | c.486 others(66): Show |
ANKIB1 | ENSG00000001629.10 | transcript | ENST00000265742.8 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ANKRD10_chr13_110873540_110920069 | 110892416 | C | CAAAAAAA others(42): Show |
intron_variant | MODIFIER | HG00597.hp2 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215a0001c0001t0001g0246 | 2 | 362 | 0.0055 | 49 | c.691 others(64): Show |
ANKRD10 | ENSG00000088448.14 | transcript | ENST00000267339.6 | protein_coding | 4/5 | chr13 | TogoVar | ||||||
ANKRD12_chr18_9131781_9290985 | 9196124 | C | CACACACA others(42): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0002 | a0002c0002 | a0002c0002t0043 | a0002c0002t0043g0040 | 1 | 318 | 0.0031 | 49 | c.235 others(64): Show |
ANKRD12 | ENSG00000101745.17 | transcript | ENST00000262126.9 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ANKRD24_chr19_4177689_4229814 | 4193845 | G | GAGGGAGG others(42): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0243 | 1 | 356 | 0.0028 | 49 | c.37- others(64): Show |
ANKRD24 | ENSG00000089847.13 | transcript | ENST00000318934.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ANKRD24_chr19_4177689_4229814 | 4193845 | G | GAGGGAGG others(42): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0029 | 1 | 356 | 0.0028 | 49 | c.37- others(64): Show |
ANKRD24 | ENSG00000089847.13 | transcript | ENST00000318934.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ANKRD24_chr19_4177689_4229814 | 4193845 | G | GAGGGAGG others(42): Show |
intron_variant | MODIFIER | HG02056.hp1 NA18943.hp1 NA19087.hp2 |
a0001a0004a0007 | a0001c0002a0004c0004a0007c0011 | a0001c0002t0002a0004c0004t0001a0007c0011t0001 | a0001c0002t0002g0250a0004c0004t0001g0034a0007c0011t0001g0035 | 3 | 356 | 0.0084 | 49 | c.37- others(64): Show |
ANKRD24 | ENSG00000089847.13 | transcript | ENST00000318934.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ANKRD24_chr19_4177689_4229814 | 4193845 | G | GAGGGAGG others(42): Show |
intron_variant | MODIFIER | HG02083.hp2 HG02258.hp1 HG03195.hp2 others(1): Show |
a0002a0003a0006 | a0002c0001a0003c0003a0003c0009others(1): Show | a0002c0001t0001a0003c0003t0002a0003c0009t0001others(1): Show | a0002c0001t0001g0099a0003c0003t0002g0094a0003c0009t0001g0014others(1): Show | 4 | 356 | 0.0112 | 49 | c.37- others(64): Show |
ANKRD24 | ENSG00000089847.13 | transcript | ENST00000318934.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ANKRD24_chr19_4177689_4229814 | 4193846 | A | AGGGAGGG others(42): Show |
intron_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0022 | 1 | 356 | 0.0028 | 49 | c.37- others(64): Show |
ANKRD24 | ENSG00000089847.13 | transcript | ENST00000318934.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ANKRD27_chr19_32592006_32680180 | 32616548 | C | CAAAAAAA others(42): Show |
intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0142 | 1 | 348 | 0.0029 | 49 | c.205 others(66): Show |
ANKRD27 | ENSG00000105186.16 | transcript | ENST00000306065.9 | protein_coding | 21/28 | chr19 | TogoVar | ||||||
ANKRD45_chr1_173603336_173674851 | 173613562 | G | GCCCCCGC others(42): Show |
intron_variant | MODIFIER | HG01884.hp1 HG03209.hp2 HG03486.hp2 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0007 | a0002c0002t0002g0042a0002c0002t0002g0070a0002c0002t0007g0305 | 3 | 342 | 0.0088 | 49 | c.731 others(66): Show |
ANKRD45 | ENSG00000183831.7 | transcript | ENST00000333279.3 | protein_coding | 5/5 | chr1 | TogoVar | ||||||
ANKRD52_chr12_56232807_56263384 | 56247876 | C | CAGGGAGA others(42): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0061 | 1 | 272 | 0.0037 | 49 | c.197 others(65): Show |
ANKRD52 | ENSG00000139645.11 | transcript | ENST00000267116.8 | protein_coding | 18/27 | chr12 | TogoVar | ||||||
ANO1_chr11_70073317_70194530 | 70127137 | G | GTGAACAC others(42): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02615.hp2 NA19043.hp1 |
a0001 | a0001c0008 | a0001c0008t0012a0001c0008t0020 | a0001c0008t0012g0282a0001c0008t0012g0286a0001c0008t0020g0284 | 3 | 302 | 0.0099 | 49 | c.109 others(66): Show |
ANO1 | ENSG00000131620.18 | transcript | ENST00000355303.10 | protein_coding | 10/25 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ANO3_chr11_26327130_26668289 | 26529403 | A | AATATATT others(42): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0007 | a0001c0007t0003 | a0001c0007t0003g0128 | 1 | 190 | 0.0053 | 49 | c.738 others(66): Show |
ANO3 | ENSG00000134343.14 | transcript | ENST00000256737.8 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ANO3_chr11_26327130_26668289 | 26529403 | A | AATATATT others(42): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 HG02647.hp1 others(1): Show |
a0001 | a0001c0003a0001c0007a0001c0012 | a0001c0003t0002a0001c0007t0003a0001c0012t0007 | a0001c0003t0002g0036a0001c0003t0002g0037a0001c0007t0003g0061others(1): Show | 4 | 190 | 0.0211 | 49 | c.738 others(66): Show |
ANO3 | ENSG00000134343.14 | transcript | ENST00000256737.8 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ANXA2_chr15_60342151_60402986 | 60365368 | A | AAGCACAG others(42): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0303 | 1 | 334 | 0.0030 | 49 | c.149 others(64): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 3/12 | chr15 | TogoVar | ||||||
AP3S2_chr15_89825599_89898994 | 89854104 | A | ATCCGGGA others(42): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0057 | 1 | 312 | 0.0032 | 49 | c.346 others(68): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 4/5 | chr15 | TogoVar | ||||||
AP3S2_chr15_89825599_89898994 | 89854666 | T | TGCCCGGC others(42): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0120 | 1 | 312 | 0.0032 | 49 | c.345 others(68): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 4/5 | chr15 | TogoVar | ||||||
AP3S2_chr15_89825599_89898994 | 89854895 | G | GGGGGGGT others(42): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0113 | 1 | 312 | 0.0032 | 49 | c.345 others(68): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 4/5 | chr15 | TogoVar | ||||||
APLP2_chr11_130064894_130149805 | 130090949 | A | ACCCCCAC others(42): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00673.hp1 others(42): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0004c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0004a0001c0001t0001g0144a0001c0001t0001g0145others(41): Show | 45 | 274 | 0.1642 | 49 | c.106 others(68): Show |
APLP2 | ENSG00000084234.18 | transcript | ENST00000338167.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
APLP2_chr11_130064894_130149805 | 130090949 | A | ACCCCCAC others(42): Show |
intron_variant | MODIFIER | HG01099.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142a0001c0001t0001g0143 | 2 | 274 | 0.0073 | 49 | c.106 others(68): Show |
APLP2 | ENSG00000084234.18 | transcript | ENST00000338167.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
APLP2_chr11_130064894_130149805 | 130091024 | G | GGCTGGCC others(42): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 274 | 0.0037 | 49 | c.106 others(68): Show |
APLP2 | ENSG00000084234.18 | transcript | ENST00000338167.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
APOBEC1_chr12_7644400_7670908 | 7670800 | A | AACCGATT others(42): Show |
upstream_gene_variant | MODIFIER | NA18945.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0092 | 1 | 432 | 0.0023 | 49 | c.-49 others(60): Show |
APOBEC1 | ENSG00000111701.7 | transcript | ENST00000229304.5 | protein_coding | 4893 | chr12 | TogoVar | ||||||
APPL2_chr12_105168300_105241174 | 105186622 | T | TATATCAT others(42): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01243.hp1 HG01257.hp1 others(25): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0004a0001c0006t0004 | a0001c0001t0004g0001a0001c0001t0004g0005a0001c0001t0004g0014others(13): Show | 28 | 392 | 0.0714 | 49 | c.163 others(68): Show |
APPL2 | ENSG00000136044.12 | transcript | ENST00000258530.8 | protein_coding | 17/20 | chr12 | TogoVar | ||||||
APPL2_chr12_105168300_105241174 | 105186622 | T | TATATCAT others(42): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0270 | 1 | 392 | 0.0026 | 49 | c.163 others(68): Show |
APPL2 | ENSG00000136044.12 | transcript | ENST00000258530.8 | protein_coding | 17/20 | chr12 | TogoVar | ||||||
AQP12A_chr2_240686866_240703483 | 240689557 | G | GCTGGGGA others(42): Show |
upstream_gene_variant | MODIFIER | NA18950.hp2 | a0006 | a0006c0005 | a0006c0005t0001 | a0006c0005t0001g0024 | 1 | 171 | 0.0059 | 49 | c.-23 others(60): Show |
AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 2308 | chr2 | TogoVar | ||||||
ARFGEF2_chr20_48916711_49041693 | 48935782 | C | CACCTCCC others(42): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0005 | 1 | 352 | 0.0028 | 49 | c.122 others(66): Show |
ARFGEF2 | ENSG00000124198.10 | transcript | ENST00000371917.5 | protein_coding | 1/38 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ARFRP1_chr20_63693647_63712976 | 63693708 | A | ACCACCAC others(42): Show |
downstream_gene_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0053 | 1 | 296 | 0.0034 | 49 | c.*67 others(60): Show |
ARFRP1 | ENSG00000101246.20 | transcript | ENST00000622789.5 | protein_coding | 4938 | chr20 | TogoVar | ||||||
ARHGAP21_chr10_24578614_24728887 | 24656661 | T | TGCCCGGC others(42): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01975.hp2 NA18906.hp1 others(9): Show |
a0001 | a0001c0001a0001c0014 | a0001c0001t0002a0001c0001t0008a0001c0014t0004 | a0001c0001t0002g0303a0001c0001t0002g0304a0001c0001t0002g0307others(9): Show | 12 | 352 | 0.0341 | 49 | c.268 others(68): Show |
ARHGAP21 | ENSG00000107863.20 | transcript | ENST00000396432.7 | protein_coding | 4/25 | chr10 | TogoVar | ||||||
ARHGAP21_chr10_24578614_24728887 | 24656673 | C | CGCCCCGT others(42): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0179 | 1 | 352 | 0.0028 | 49 | c.268 others(68): Show |
ARHGAP21 | ENSG00000107863.20 | transcript | ENST00000396432.7 | protein_coding | 4/25 | chr10 | TogoVar | ||||||
ARHGAP28_chr18_6724716_6920716 | 6909301 | T | TTTTCTTT others(42): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02055.hp2 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0003a0001c0001t0001g0151a0001c0001t0006g0176 | 3 | 248 | 0.0121 | 49 | c.209 others(66): Show |
ARHGAP28 | ENSG00000088756.13 | transcript | ENST00000383472.9 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ARHGEF10_chr8_1818926_1963641 | 1823999 | C | CGCGGGGG others(42): Show |
5_prime_UTR_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0145 | 1 | 363 | 0.0028 | 49 | c.-15 others(58): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 1/29 | 19390 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||
ARHGEF10_chr8_1818926_1963641 | 1955344 | T | TTCCTCTG others(42): Show |
intron_variant | MODIFIER | NA18960.hp2 NA19066.hp1 |
a0001a0002 | a0001c0066a0002c0082 | a0001c0066t0022a0002c0082t0001 | a0001c0066t0022g0227a0002c0082t0001g0282 | 2 | 363 | 0.0055 | 49 | c.352 others(68): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 28/28 | chr8 | TogoVar | ||||||
ARHGEF33_chr2_38884875_38980454 | 38934557 | C | CCTCCCCC others(42): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02615.hp2 HG02622.hp2 others(7): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(4): Show | a0001c0001t0002g0269a0001c0001t0003g0241a0001c0001t0009g0005others(6): Show | 10 | 278 | 0.0360 | 49 | c.506 others(66): Show |
ARHGEF33 | ENSG00000214694.13 | transcript | ENST00000409978.7 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ARL13A_chrX_100964708_100995831 | 100972369 | A | AACCTCCC others(42): Show |
intron_variant | MODIFIER | HG02809.hp1 HG02886.hp1 HG03209.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0203a0001c0001t0002g0025a0001c0001t0002g0204 | 4 | 280 | 0.0143 | 49 | c.-14 others(66): Show |
ARL13A | ENSG00000174225.15 | transcript | ENST00000450049.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar |