view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SNRPD1_chr18_21607314_21638520 | 21621167 | C | CA | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00735.hp2 others(42): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0007others(14): Show | a0001c0001t0004g0192 a0001c0001t0005g0005 a0001c0001t0005g0039 others(38): Show |
45 | 358 | 0.1257 | 1 | c.15- others(8): Show |
SNRPD1 | ENSG00000167088.11 | transcript | ENST00000300413.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SNRPD1_chr18_21607314_21638520 | 21621577 | A | AT | intron_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG01952.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0027a0001c0001t0031a0001c0001t0051others(4): Show | a0001c0001t0027g0020 a0001c0001t0027g0052 a0001c0001t0031g0049 others(6): Show |
9 | 358 | 0.0251 | 1 | c.15- others(8): Show |
SNRPD1 | ENSG00000167088.11 | transcript | ENST00000300413.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SNRPD1_chr18_21607314_21638520 | 21624374 | C | CA | intron_variant | MODIFIER | HG00597.hp1 HG00642.hp2 HG01361.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0085 a0001c0001t0001g0136 a0001c0001t0002g0034 others(18): Show |
21 | 358 | 0.0587 | 1 | c.283 others(8): Show |
SNRPD1 | ENSG00000167088.11 | transcript | ENST00000300413.10 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SNRPD1_chr18_21607314_21638520 | 21626394 | C | CA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(87): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0021 a0001c0001t0001g0057 a0001c0001t0001g0070 others(81): Show |
90 | 358 | 0.2514 | 1 | c.283 others(9): Show |
SNRPD1 | ENSG00000167088.11 | transcript | ENST00000300413.10 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SNRPD1_chr18_21607314_21638520 | 21626785 | C | CA | intron_variant | MODIFIER | HG00140.hp1 HG00597.hp2 HG00621.hp2 others(80): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0012 others(66): Show |
83 | 358 | 0.2318 | 1 | c.284 others(9): Show |
SNRPD1 | ENSG00000167088.11 | transcript | ENST00000300413.10 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SNRPD1_chr18_21607314_21638520 | 21626945 | A | AT | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02559.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0075 a0001c0001t0001g0087 a0001c0001t0002g0127 others(7): Show |
11 | 358 | 0.0307 | 1 | c.284 others(9): Show |
SNRPD1 | ENSG00000167088.11 | transcript | ENST00000300413.10 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SNRPD1_chr18_21607314_21638520 | 21627434 | G | GT | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00544.hp1 others(60): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0026 a0001c0001t0001g0057 a0001c0001t0001g0064 others(56): Show |
63 | 358 | 0.1760 | 1 | c.284 others(9): Show |
SNRPD1 | ENSG00000167088.11 | transcript | ENST00000300413.10 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SNRPD1_chr18_21607314_21638520 | 21631427 | G | GT | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00558.hp2 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0023a0001c0001t0024others(10): Show | a0001c0001t0004g0001 a0001c0001t0004g0002 a0001c0001t0004g0007 others(29): Show |
38 | 358 | 0.1062 | 1 | c.*23 others(6): Show |
SNRPD1 | ENSG00000167088.11 | transcript | ENST00000300413.10 | protein_coding | 4/4 | 2316 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
SNRPD1_chr18_21607314_21638520 | 21632456 | C | CA | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG01361.hp1 HG01891.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0016a0001c0001t0023others(5): Show | a0001c0001t0014g0032 a0001c0001t0014g0131 a0001c0001t0014g0177 others(10): Show |
14 | 358 | 0.0391 | 1 | c.*33 others(6): Show |
SNRPD1 | ENSG00000167088.11 | transcript | ENST00000300413.10 | protein_coding | 4/4 | 3335 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
SNRPD1_chr18_21607314_21638520 | 21635279 | C | CT | downstream_gene_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02280.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0014a0001c0001t0032others(3): Show | a0001c0001t0002g0033 a0001c0001t0014g0032 a0001c0001t0014g0131 others(6): Show |
10 | 358 | 0.0279 | 1 | c.*61 others(12): Show |
SNRPD1 | ENSG00000167088.11 | transcript | ENST00000300413.10 | protein_coding | 1760 | chr18 | TogoVar | |||||||
SNRPD1_chr18_21607314_21638520 | 21635467 | C | CT | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00738.hp1 others(40): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0057 a0001c0001t0001g0075 a0001c0001t0002g0002 others(36): Show |
43 | 358 | 0.1201 | 1 | c.*63 others(12): Show |
SNRPD1 | ENSG00000167088.11 | transcript | ENST00000300413.10 | protein_coding | 1948 | chr18 | TogoVar | |||||||
SNRPD1_chr18_21607314_21638520 | 21636865 | C | CA | downstream_gene_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02486.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(3): Show | a0001c0001t0001g0028 a0001c0001t0001g0075 a0001c0001t0002g0033 others(7): Show |
11 | 358 | 0.0307 | 1 | c.*77 others(12): Show |
SNRPD1 | ENSG00000167088.11 | transcript | ENST00000300413.10 | protein_coding | 3346 | chr18 | TogoVar | |||||||
SNRPD1_chr18_21607314_21638520 | 21637594 | C | CA | downstream_gene_variant | MODIFIER | HG00621.hp2 HG00639.hp2 HG01891.hp1 others(34): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0008 a0001c0001t0001g0022 a0001c0001t0001g0064 others(32): Show |
37 | 358 | 0.1034 | 1 | c.*84 others(12): Show |
SNRPD1 | ENSG00000167088.11 | transcript | ENST00000300413.10 | protein_coding | 4075 | chr18 | TogoVar | |||||||
SNRPD2_chr19_45682460_45696953 | 45682563 | C | CT | downstream_gene_variant | MODIFIER | HG00673.hp1 HG01167.hp2 HG01891.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(9): Show |
17 | 438 | 0.0388 | 1 | c.*49 others(6): Show |
SNRPD2 | ENSG00000125743.11 | transcript | ENST00000342669.8 | protein_coding | 4896 | chr19 | TogoVar | |||||||
SNRPD2_chr19_45682460_45696953 | 45684789 | C | CA | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(111): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(26): Show |
114 | 438 | 0.2603 | 1 | c.*27 others(12): Show |
SNRPD2 | ENSG00000125743.11 | transcript | ENST00000342669.8 | protein_coding | 2670 | chr19 | TogoVar | |||||||
SNRPD2_chr19_45682460_45696953 | 45684992 | C | CT | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00597.hp1 others(84): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(23): Show |
87 | 438 | 0.1986 | 1 | c.*25 others(12): Show |
SNRPD2 | ENSG00000125743.11 | transcript | ENST00000342669.8 | protein_coding | 2467 | chr19 | TogoVar | |||||||
SNRPD2_chr19_45682460_45696953 | 45685656 | C | CA | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00642.hp1 others(80): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(16): Show |
83 | 438 | 0.1895 | 1 | c.*18 others(12): Show |
SNRPD2 | ENSG00000125743.11 | transcript | ENST00000342669.8 | protein_coding | 1803 | chr19 | TogoVar | |||||||
SNRPD2_chr19_45682460_45696953 | 45689109 | T | TC | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp2 HG00544.hp1 others(88): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0014 others(13): Show |
91 | 438 | 0.2078 | 1 | c.3-5 others(6): Show |
SNRPD2 | ENSG00000125743.11 | transcript | ENST00000342669.8 | protein_coding | 1/2 | chr19 | TogoVar | |||||||
SNRPD2_chr19_45682460_45696953 | 45690329 | C | CA | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00423.hp1 others(171): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(26): Show |
174 | 438 | 0.3973 | 1 | c.2+1 others(7): Show |
SNRPD2 | ENSG00000125743.11 | transcript | ENST00000342669.8 | protein_coding | 1/2 | chr19 | TogoVar | |||||||
SNRPD2_chr19_45682460_45696953 | 45690831 | C | CA | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00423.hp1 others(106): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0010 others(24): Show |
109 | 438 | 0.2489 | 1 | c.2+1 others(7): Show |
SNRPD2 | ENSG00000125743.11 | transcript | ENST00000342669.8 | protein_coding | 1/2 | chr19 | TogoVar | |||||||
SNRPD2_chr19_45682460_45696953 | 45691536 | A | AT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(179): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 others(32): Show |
182 | 438 | 0.4155 | 1 | c.2+3 others(6): Show |
SNRPD2 | ENSG00000125743.11 | transcript | ENST00000342669.8 | protein_coding | 1/2 | chr19 | TogoVar | |||||||
SNRPD2_chr19_45682460_45696953 | 45691793 | G | GC | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00438.hp1 others(89): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0002t0001a0001c0004t0001 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0017 others(22): Show |
92 | 438 | 0.2101 | 1 | c.2+9 others(5): Show |
SNRPD2 | ENSG00000125743.11 | transcript | ENST00000342669.8 | protein_coding | 1/2 | chr19 | TogoVar | |||||||
SNRPD3_chr22_24550999_24579971 | 24551696 | G | GA | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00642.hp1 HG00673.hp1 others(80): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0004a0001c0002t0005others(5): Show | a0001c0002t0002g0019 a0001c0002t0002g0030 a0001c0002t0002g0031 others(74): Show |
83 | 400 | 0.2075 | 1 | c.-43 others(12): Show |
SNRPD3 | ENSG00000100028.12 | transcript | ENST00000215829.8 | protein_coding | 4302 | chr22 | TogoVar | |||||||
SNRPD3_chr22_24550999_24579971 | 24557511 | C | CT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(349): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(17): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(243): Show |
352 | 400 | 0.8800 | 1 | c.-18 others(8): Show |
SNRPD3 | ENSG00000100028.12 | transcript | ENST00000215829.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SNRPD3_chr22_24550999_24579971 | 24560715 | C | CT | intron_variant | MODIFIER | HG03540.hp2 HG03710.hp2 NA18965.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0186 a0001c0002t0003g0194 a0001c0002t0003g0195 others(4): Show |
7 | 400 | 0.0175 | 1 | c.126 others(9): Show |
SNRPD3 | ENSG00000100028.12 | transcript | ENST00000215829.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SNRPD3_chr22_24550999_24579971 | 24561064 | C | CT | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00438.hp1 others(26): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0007a0001c0001t0009others(3): Show | a0001c0001t0001g0010 a0001c0001t0001g0049 a0001c0001t0001g0056 others(23): Show |
29 | 400 | 0.0725 | 1 | c.126 others(9): Show |
SNRPD3 | ENSG00000100028.12 | transcript | ENST00000215829.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SNRPD3_chr22_24550999_24579971 | 24563307 | T | TA | intron_variant | MODIFIER | HG01255.hp1 HG01934.hp1 HG02572.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0007a0001c0002t0002others(2): Show | a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0131 others(6): Show |
9 | 400 | 0.0225 | 1 | c.127 others(18): Show |
SNRPD3 | ENSG00000100028.12 | transcript | ENST00000215829.8 | protein_coding | 2/3 | chr22 | TogoVar | |||||||
SNRPD3_chr22_24550999_24579971 | 24564883 | C | CT | intron_variant | MODIFIER | HG00438.hp1 HG01123.hp1 HG02071.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0019 | a0001c0001t0001g0016 a0001c0001t0001g0041 a0001c0001t0001g0100 others(10): Show |
15 | 400 | 0.0375 | 1 | c.127 others(18): Show |
SNRPD3 | ENSG00000100028.12 | transcript | ENST00000215829.8 | protein_coding | 2/3 | chr22 | TogoVar | |||||||
SNRPD3_chr22_24550999_24579971 | 24564884 | A | AT | intron_variant | MODIFIER | HG01109.hp1 HG01496.hp1 HG02080.hp2 others(30): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0002a0001c0002t0003a0001c0002t0012others(1): Show | a0001c0002t0002g0032 a0001c0002t0002g0216 a0001c0002t0002g0220 others(26): Show |
33 | 400 | 0.0825 | 1 | c.127 others(9): Show |
SNRPD3 | ENSG00000100028.12 | transcript | ENST00000215829.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SNRPD3_chr22_24550999_24579971 | 24570815 | C | CT | intron_variant | MODIFIER | HG02895.hp2 HG03209.hp2 NA18522.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0007a0001c0001t0019others(3): Show | a0001c0001t0001g0043 a0001c0001t0007g0168 a0001c0001t0019g0166 others(7): Show |
10 | 400 | 0.0250 | 1 | c.320 others(9): Show |
SNRPD3 | ENSG00000100028.12 | transcript | ENST00000215829.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SNRPD3_chr22_24550999_24579971 | 24571750 | T | TG | intron_variant | MODIFIER | HG00099.hp2 HG00642.hp1 HG00673.hp1 others(52): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0010a0001c0002t0020others(1): Show | a0001c0002t0002g0019 a0001c0002t0002g0030 a0001c0002t0002g0031 others(47): Show |
55 | 400 | 0.1375 | 1 | c.320 others(16): Show |
SNRPD3 | ENSG00000100028.12 | transcript | ENST00000215829.8 | protein_coding | 3/3 | chr22 | TogoVar | |||||||
SNRPD3_chr22_24550999_24579971 | 24575625 | C | CA | downstream_gene_variant | MODIFIER | HG01884.hp2 HG03654.hp2 HG03710.hp2 others(14): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0018 a0001c0002t0003g0028 a0001c0002t0003g0029 others(14): Show |
17 | 400 | 0.0425 | 1 | c.*36 others(12): Show |
SNRPD3 | ENSG00000100028.12 | transcript | ENST00000215829.8 | protein_coding | 655 | chr22 | TogoVar | |||||||
SNRPD3_chr22_24550999_24579971 | 24575742 | C | CT | downstream_gene_variant | MODIFIER | HG01175.hp2 HG01243.hp2 HG01978.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002a0001c0002t0003 | a0001c0001t0001g0001 a0001c0001t0001g0043 a0001c0001t0001g0085 others(7): Show |
10 | 400 | 0.0250 | 1 | c.*37 others(12): Show |
SNRPD3 | ENSG00000100028.12 | transcript | ENST00000215829.8 | protein_coding | 772 | chr22 | TogoVar | |||||||
SNRPD3_chr22_24550999_24579971 | 24576064 | C | CT | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(258): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(158): Show |
261 | 400 | 0.6525 | 1 | c.*40 others(12): Show |
SNRPD3 | ENSG00000100028.12 | transcript | ENST00000215829.8 | protein_coding | 1094 | chr22 | TogoVar | |||||||
SNRPD3_chr22_24550999_24579971 | 24579803 | C | CA | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0060 a0001c0001t0001g0094 a0001c0001t0001g0109 others(4): Show |
7 | 400 | 0.0175 | 1 | c.*78 others(12): Show |
SNRPD3 | ENSG00000100028.12 | transcript | ENST00000215829.8 | protein_coding | 4833 | chr22 | TogoVar | |||||||
SNRPE_chr1_203856599_203876152 | 203858037 | C | CA | upstream_gene_variant | MODIFIER | HG00639.hp1 HG01123.hp1 HG02083.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0011 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 others(9): Show |
14 | 416 | 0.0337 | 1 | c.-36 others(12): Show |
SNRPE | ENSG00000182004.13 | transcript | ENST00000414487.7 | protein_coding | 3561 | chr1 | TogoVar | |||||||
SNRPE_chr1_203856599_203876152 | 203859260 | C | CT | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00621.hp1 HG01243.hp2 others(33): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(23): Show |
36 | 416 | 0.0865 | 1 | c.-24 others(12): Show |
SNRPE | ENSG00000182004.13 | transcript | ENST00000414487.7 | protein_coding | 2338 | chr1 | TogoVar | |||||||
SNRPE_chr1_203856599_203876152 | 203859566 | A | AT | upstream_gene_variant | MODIFIER | HG02056.hp1 HG03239.hp1 NA18956.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0030 a0001c0001t0007g0049 a0001c0001t0007g0050 others(2): Show |
6 | 416 | 0.0144 | 1 | c.-20 others(12): Show |
SNRPE | ENSG00000182004.13 | transcript | ENST00000414487.7 | protein_coding | 2032 | chr1 | TogoVar | |||||||
SNRPE_chr1_203856599_203876152 | 203859567 | A | AT | upstream_gene_variant | MODIFIER | HG00639.hp1 HG01074.hp1 HG01346.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(4): Show |
9 | 416 | 0.0216 | 1 | c.-20 others(12): Show |
SNRPE | ENSG00000182004.13 | transcript | ENST00000414487.7 | protein_coding | 2031 | chr1 | TogoVar | |||||||
SNRPE_chr1_203856599_203876152 | 203859877 | A | AT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(282): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(90): Show |
285 | 416 | 0.6851 | 1 | c.-17 others(12): Show |
SNRPE | ENSG00000182004.13 | transcript | ENST00000414487.7 | protein_coding | 1721 | chr1 | TogoVar | |||||||
SNRPE_chr1_203856599_203876152 | 203861345 | C | CA | upstream_gene_variant | MODIFIER | HG01978.hp1 HG01978.hp2 HG01981.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0002c0002t0002 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0047 others(3): Show |
7 | 416 | 0.0168 | 1 | c.-31 others(10): Show |
SNRPE | ENSG00000182004.13 | transcript | ENST00000414487.7 | protein_coding | 253 | chr1 | TogoVar | |||||||
SNRPE_chr1_203856599_203876152 | 203861661 | T | TG | frameshift_variant | HIGH | NA19089.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0011 | 1 | 416 | 0.0024 | 1 | c.4du others(2): Show |
p.Ala others(3): Show |
SNRPE | ENSG00000182004.13 | transcript | ENST00000414487.7 | protein_coding | 1/5 | 66/1560 | 5/279 | 2/92 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
SNRPE_chr1_203856599_203876152 | 203864438 | A | AT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(291): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(94): Show |
294 | 416 | 0.7067 | 1 | c.145 others(8): Show |
SNRPE | ENSG00000182004.13 | transcript | ENST00000414487.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SNRPE_chr1_203856599_203876152 | 203864876 | C | CA | intron_variant | MODIFIER | HG00642.hp2 HG01884.hp2 HG02622.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(2): Show | a0001c0001t0001g0022 a0001c0001t0001g0039 a0001c0001t0001g0059 others(7): Show |
16 | 416 | 0.0385 | 1 | c.145 others(8): Show |
SNRPE | ENSG00000182004.13 | transcript | ENST00000414487.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SNRPE_chr1_203856599_203876152 | 203867107 | G | GA | intron_variant | MODIFIER | HG01884.hp2 HG01952.hp2 HG02055.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0023 a0001c0001t0002g0034 a0001c0001t0002g0035 others(10): Show |
17 | 416 | 0.0409 | 1 | c.223 others(9): Show |
SNRPE | ENSG00000182004.13 | transcript | ENST00000414487.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SNRPE_chr1_203856599_203876152 | 203867279 | C | CA | intron_variant | MODIFIER | HG01361.hp2 HG02145.hp1 HG02615.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004 | a0001c0001t0002g0034 a0001c0001t0002g0069 a0001c0001t0002g0071 others(9): Show |
13 | 416 | 0.0313 | 1 | c.223 others(9): Show |
SNRPE | ENSG00000182004.13 | transcript | ENST00000414487.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SNRPE_chr1_203856599_203876152 | 203868813 | G | GT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(303): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(103): Show |
306 | 416 | 0.7356 | 1 | c.224 others(18): Show |
SNRPE | ENSG00000182004.13 | transcript | ENST00000414487.7 | protein_coding | 4/4 | chr1 | TogoVar | |||||||
SNRPE_chr1_203856599_203876152 | 203870299 | T | TA | 3_prime_UTR_variant | MODIFIER | HG00642.hp2 HG02735.hp2 HG03669.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0016 a0001c0001t0006g0053 a0001c0001t0006g0054 |
6 | 416 | 0.0144 | 1 | c.*36 others(5): Show |
SNRPE | ENSG00000182004.13 | transcript | ENST00000414487.7 | protein_coding | 5/5 | 370 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SNRPE_chr1_203856599_203876152 | 203872298 | G | GT | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(301): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(101): Show |
304 | 416 | 0.7308 | 1 | c.*23 others(12): Show |
SNRPE | ENSG00000182004.13 | transcript | ENST00000414487.7 | protein_coding | 1147 | chr1 | TogoVar | |||||||
SNRPE_chr1_203856599_203876152 | 203874274 | A | AT | downstream_gene_variant | MODIFIER | HG00609.hp1 HG02015.hp2 HG02129.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0092 others(7): Show |
17 | 416 | 0.0409 | 1 | c.*43 others(12): Show |
SNRPE | ENSG00000182004.13 | transcript | ENST00000414487.7 | protein_coding | 3123 | chr1 | TogoVar |