view | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SNRPC_chr6_34752505_34778857 | 34760111 | CT | C | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00438.hp1 others(102): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001 | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0010others(58): Show | 105 | 368 | 0.2853 | -1 | c.51+ others(8): Show |
SNRPC | ENSG00000124562.10 | transcript | ENST00000244520.10 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SNRPC_chr6_34752505_34778857 | 34761513 | AT | A | intron_variant | MODIFIER | HG01109.hp1 HG01175.hp1 HG02071.hp1 others(11): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0026a0001c0001t0001g0030a0001c0001t0001g0069others(9): Show | 14 | 368 | 0.0380 | -1 | c.52- others(8): Show |
SNRPC | ENSG00000124562.10 | transcript | ENST00000244520.10 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SNRPC_chr6_34752505_34778857 | 34763550 | GC | G | intron_variant | MODIFIER | HG02717.hp1 HG02970.hp2 HG03139.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 4 | 368 | 0.0109 | -1 | c.160 others(8): Show |
SNRPC | ENSG00000124562.10 | transcript | ENST00000244520.10 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SNRPC_chr6_34752505_34778857 | 34763891 | AT | A | intron_variant | MODIFIER | HG02717.hp1 HG02970.hp2 HG03139.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 4 | 368 | 0.0109 | -1 | c.160 others(9): Show |
SNRPC | ENSG00000124562.10 | transcript | ENST00000244520.10 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SNRPC_chr6_34752505_34778857 | 34768753 | CA | C | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00544.hp1 others(142): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(69): Show | 145 | 368 | 0.3940 | -1 | c.250 others(8): Show |
SNRPC | ENSG00000124562.10 | transcript | ENST00000244520.10 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SNRPC_chr6_34752505_34778857 | 34768957 | CA | C | intron_variant | MODIFIER | HG03195.hp1 HG03225.hp2 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027a0001c0001t0001g0071 | 3 | 368 | 0.0082 | -1 | c.250 others(8): Show |
SNRPC | ENSG00000124562.10 | transcript | ENST00000244520.10 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SNRPC_chr6_34752505_34778857 | 34769229 | CT | C | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00438.hp1 others(88): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0010others(47): Show | 91 | 368 | 0.2473 | -1 | c.251 others(9): Show |
SNRPC | ENSG00000124562.10 | transcript | ENST00000244520.10 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SNRPC_chr6_34752505_34778857 | 34771328 | CA | C | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00544.hp1 others(63): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0003a0001c0001t0001g0016a0001c0001t0001g0024others(32): Show | 66 | 368 | 0.1794 | -1 | c.355 others(8): Show |
SNRPC | ENSG00000124562.10 | transcript | ENST00000244520.10 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SNRPC_chr6_34752505_34778857 | 34776851 | CA | C | downstream_gene_variant | MODIFIER | HG00558.hp1 HG00642.hp1 HG00673.hp1 others(60): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0009others(28): Show | 63 | 368 | 0.1712 | -1 | c.*32 others(6): Show |
SNRPC | ENSG00000124562.10 | transcript | ENST00000244520.10 | protein_coding | 2995 | chr6 | TogoVar | |||||||
SNRPD1_chr18_21607314_21638520 | 21611830 | CT | C | upstream_gene_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02559.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0014a0001c0001t0032others(2): Show | a0001c0001t0002g0187a0001c0001t0014g0032a0001c0001t0014g0131others(5): Show | 9 | 358 | 0.0251 | -1 | c.-59 others(5): Show |
SNRPD1 | ENSG00000167088.11 | transcript | ENST00000300413.10 | protein_coding | 483 | chr18 | TogoVar | |||||||
SNRPD1_chr18_21607314_21638520 | 21613854 | CA | C | intron_variant | MODIFIER | HG00140.hp2 HG01261.hp1 HG01952.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0023others(4): Show | a0001c0001t0002g0011a0001c0001t0002g0218a0001c0001t0004g0011others(8): Show | 11 | 358 | 0.0307 | -1 | c.14+ others(8): Show |
SNRPD1 | ENSG00000167088.11 | transcript | ENST00000300413.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SNRPD1_chr18_21607314_21638520 | 21616689 | CT | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(222): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(46): Show | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0012others(195): Show | 225 | 358 | 0.6285 | -1 | c.14+ others(8): Show |
SNRPD1 | ENSG00000167088.11 | transcript | ENST00000300413.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SNRPD1_chr18_21607314_21638520 | 21618337 | GT | G | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG02723.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0012a0001c0001t0030others(1): Show | a0001c0001t0008g0006a0001c0001t0008g0027a0001c0001t0012g0006others(4): Show | 8 | 358 | 0.0224 | -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 | 21618447 | GT | G | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02559.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0032 | a0001c0001t0014g0032a0001c0001t0014g0131a0001c0001t0014g0177others(2): Show | 6 | 358 | 0.0168 | -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 | 21620259 | AT | A | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02559.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0014a0001c0001t0032 | a0001c0001t0013g0173a0001c0001t0014g0032a0001c0001t0014g0131others(3): Show | 7 | 358 | 0.0196 | -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 | 21622929 | AT | A | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(169): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(35): Show | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0012others(148): Show | 172 | 358 | 0.4805 | -1 | c.91+ others(7): Show |
SNRPD1 | ENSG00000167088.11 | transcript | ENST00000300413.10 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SNRPD1_chr18_21607314_21638520 | 21624690 | CA | C | intron_variant | MODIFIER | HG02145.hp1 HG02451.hp2 HG02486.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0015 | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0042others(8): Show | 14 | 358 | 0.0391 | -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 | 21624702 | AT | A | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00438.hp2 others(112): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0012others(95): Show | 115 | 358 | 0.3212 | -1 | c.283 others(8): Show |
SNRPD1 | ENSG00000167088.11 | transcript | ENST00000300413.10 | protein_coding | 3/3 | chr18 | TogoVar | |||||||
SNRPD1_chr18_21607314_21638520 | 21626984 | TA | T | intron_variant | MODIFIER | HG00642.hp2 HG01070.hp2 HG01169.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(2): Show | a0001c0001t0001g0071a0001c0001t0001g0107a0001c0001t0001g0116others(4): Show | 7 | 358 | 0.0196 | -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 | GT | G | intron_variant | MODIFIER | HG01167.hp2 HG01361.hp2 HG01952.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(12): Show | a0001c0001t0001g0075a0001c0001t0001g0117a0001c0001t0001g0143others(17): Show | 20 | 358 | 0.0559 | -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 | GT | G | 3_prime_UTR_variant | MODIFIER | HG00280.hp2 HG00597.hp2 HG00621.hp2 others(91): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0008others(21): Show | a0001c0001t0003g0003a0001c0001t0003g0012a0001c0001t0003g0013others(82): Show | 94 | 358 | 0.2626 | -1 | c.*23 others(6): Show |
SNRPD1 | ENSG00000167088.11 | transcript | ENST00000300413.10 | protein_coding | 4/4 | 2315 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
SNRPD1_chr18_21607314_21638520 | 21632456 | CA | C | 3_prime_UTR_variant | MODIFIER | HG01169.hp1 HG02015.hp2 HG02145.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0015a0001c0001t0017others(7): Show | a0001c0001t0006g0016a0001c0001t0006g0091a0001c0001t0006g0092others(19): Show | 23 | 358 | 0.0643 | -1 | c.*33 others(6): Show |
SNRPD1 | ENSG00000167088.11 | transcript | ENST00000300413.10 | protein_coding | 4/4 | 3334 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
SNRPD1_chr18_21607314_21638520 | 21635279 | CT | C | downstream_gene_variant | MODIFIER | HG02451.hp1 HG02818.hp1 NA18961.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0059a0001c0001t0001g0140a0001c0001t0002g0198others(3): Show | 6 | 358 | 0.0168 | -1 | c.*61 others(6): Show |
SNRPD1 | ENSG00000167088.11 | transcript | ENST00000300413.10 | protein_coding | 1760 | chr18 | TogoVar | |||||||
SNRPD1_chr18_21607314_21638520 | 21636865 | CA | C | downstream_gene_variant | MODIFIER | HG02257.hp2 HG02273.hp1 HG02615.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0088a0001c0001t0001g0137a0001c0001t0002g0004others(9): Show | 12 | 358 | 0.0335 | -1 | c.*77 others(6): Show |
SNRPD1 | ENSG00000167088.11 | transcript | ENST00000300413.10 | protein_coding | 3346 | chr18 | TogoVar | |||||||
SNRPD1_chr18_21607314_21638520 | 21637594 | CA | C | downstream_gene_variant | MODIFIER | HG00673.hp1 HG01167.hp1 HG01169.hp2 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0008a0001c0001t0001g0014a0001c0001t0001g0026others(28): Show | 34 | 358 | 0.0950 | -1 | c.*84 others(6): Show |
SNRPD1 | ENSG00000167088.11 | transcript | ENST00000300413.10 | protein_coding | 4075 | chr18 | TogoVar | |||||||
SNRPD2_chr19_45682460_45696953 | 45683393 | CT | C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00438.hp1 others(159): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0002t0001a0001c0004t0001 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(26): Show | 162 | 438 | 0.3699 | -1 | c.*41 others(6): Show |
SNRPD2 | ENSG00000125743.11 | transcript | ENST00000342669.8 | protein_coding | 4066 | chr19 | TogoVar | |||||||
SNRPD2_chr19_45682460_45696953 | 45684789 | CA | C | downstream_gene_variant | MODIFIER | HG02559.hp1 HG03579.hp1 NA18960.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0013a0001c0001t0001g0074others(1): Show | 6 | 438 | 0.0137 | -1 | c.*27 others(6): Show |
SNRPD2 | ENSG00000125743.11 | transcript | ENST00000342669.8 | protein_coding | 2670 | chr19 | TogoVar | |||||||
SNRPD2_chr19_45682460_45696953 | 45690329 | CA | C | intron_variant | MODIFIER | HG00280.hp2 HG01891.hp2 HG02897.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032a0001c0001t0001g0035a0001c0001t0001g0057others(3): Show | 7 | 438 | 0.0160 | -1 | c.2+1 others(7): Show |
SNRPD2 | ENSG00000125743.11 | transcript | ENST00000342669.8 | protein_coding | 1/2 | chr19 | TogoVar | |||||||
SNRPD2_chr19_45682460_45696953 | 45690831 | CA | C | intron_variant | MODIFIER | HG00558.hp2 HG01361.hp1 HG02809.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023a0001c0001t0001g0027a0001c0001t0001g0035others(4): Show | 9 | 438 | 0.0206 | -1 | c.2+1 others(7): Show |
SNRPD2 | ENSG00000125743.11 | transcript | ENST00000342669.8 | protein_coding | 1/2 | chr19 | TogoVar | |||||||
SNRPD2_chr19_45682460_45696953 | 45695848 | CT | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(351): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(65): Show | 354 | 438 | 0.8082 | -1 | c.-39 others(6): Show |
SNRPD2 | ENSG00000125743.11 | transcript | ENST00000342669.8 | protein_coding | 3896 | chr19 | TogoVar | |||||||
SNRPD2_chr19_45682460_45696953 | 45696589 | CA | C | upstream_gene_variant | MODIFIER | HG01257.hp2 HG01943.hp1 HG03225.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0054others(2): Show | 6 | 438 | 0.0137 | -1 | c.-47 others(6): Show |
SNRPD2 | ENSG00000125743.11 | transcript | ENST00000342669.8 | protein_coding | 4637 | chr19 | TogoVar | |||||||
SNRPD2_chr19_45682460_45696953 | 45696736 | TA | T | upstream_gene_variant | MODIFIER | HG01070.hp2 HG01169.hp2 HG01884.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(5): Show | 12 | 438 | 0.0274 | -1 | c.-48 others(6): Show |
SNRPD2 | ENSG00000125743.11 | transcript | ENST00000342669.8 | protein_coding | 4784 | chr19 | TogoVar | |||||||
SNRPD3_chr22_24550999_24579971 | 24556375 | TG | T | intron_variant | MODIFIER | HG00099.hp2 HG00642.hp1 HG00673.hp1 others(58): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0004a0001c0002t0005others(4): Show | a0001c0002t0002g0019a0001c0002t0002g0030a0001c0002t0002g0031others(52): Show | 61 | 400 | 0.1525 | -1 | c.-19 others(8): Show |
SNRPD3 | ENSG00000100028.12 | transcript | ENST00000215829.8 | protein_coding | 1/3 | chr22 | TogoVar | |||||||
SNRPD3_chr22_24550999_24579971 | 24556376 | GT | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(265): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(165): Show | 268 | 400 | 0.6700 | -1 | c.-19 others(8): Show |
SNRPD3 | ENSG00000100028.12 | transcript | ENST00000215829.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SNRPD3_chr22_24550999_24579971 | 24560428 | CT | C | intron_variant | MODIFIER | HG03471.hp2 HG04115.hp1 NA18747.hp1 others(7): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0003a0002c0003t0003 | a0001c0002t0003g0178a0001c0002t0003g0180a0001c0002t0003g0181others(7): Show | 10 | 400 | 0.0250 | -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 | 24560806 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(352): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(17): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(246): Show | 355 | 400 | 0.8875 | -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 | CT | C | intron_variant | MODIFIER | HG01070.hp2 HG01099.hp2 HG01175.hp2 others(39): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0003a0001c0002t0008others(3): Show | a0001c0001t0001g0012a0001c0001t0001g0038a0001c0001t0001g0081others(34): Show | 42 | 400 | 0.1050 | -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 | 24561880 | TC | T | intron_variant | MODIFIER | HG00099.hp2 HG00642.hp1 HG00673.hp1 others(53): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0010a0001c0002t0020others(1): Show | a0001c0002t0002g0019a0001c0002t0002g0030a0001c0002t0002g0031others(48): Show | 56 | 400 | 0.1400 | -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 | 24563305 | TA | T | intron_variant | MODIFIER | HG00423.hp1 HG00733.hp1 HG00738.hp1 others(78): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0007others(44): Show | 81 | 400 | 0.2025 | -1 | c.127 others(9): Show |
SNRPD3 | ENSG00000100028.12 | transcript | ENST00000215829.8 | protein_coding | 2/3 | chr22 | TogoVar | |||||||
SNRPD3_chr22_24550999_24579971 | 24563306 | AT | A | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00609.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0044others(16): Show | 23 | 400 | 0.0575 | -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 | 24564000 | GT | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(265): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(165): Show | 268 | 400 | 0.6700 | -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 | 24564883 | CA | C | intron_variant | MODIFIER | HG00280.hp2 HG01099.hp2 HG02165.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066a0001c0001t0001g0081a0001c0001t0001g0082others(5): Show | 8 | 400 | 0.0200 | -1 | c.127 others(9): Show |
SNRPD3 | ENSG00000100028.12 | transcript | ENST00000215829.8 | protein_coding | 2/3 | chr22 | TogoVar | |||||||
SNRPD3_chr22_24550999_24579971 | 24564884 | AT | A | intron_variant | MODIFIER | HG01257.hp2 HG01884.hp2 HG02683.hp2 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0003a0001c0002t0008others(1): Show | a0001c0002t0002g0226a0001c0002t0002g0234a0001c0002t0002g0253others(6): Show | 9 | 400 | 0.0225 | -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 | 24567766 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(265): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(165): Show | 268 | 400 | 0.6700 | -1 | c.127 others(8): Show |
SNRPD3 | ENSG00000100028.12 | transcript | ENST00000215829.8 | protein_coding | 2/3 | chr22 | TogoVar | |||||||
SNRPD3_chr22_24550999_24579971 | 24570815 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(224): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(128): Show | 227 | 400 | 0.5675 | -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 | 24575096 | CA | C | downstream_gene_variant | MODIFIER | HG02280.hp1 HG02572.hp2 HG02647.hp2 others(11): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0022 | a0001c0002t0003g0027a0001c0002t0003g0171a0001c0002t0003g0172others(10): Show | 14 | 400 | 0.0350 | -1 | c.*31 others(6): Show |
SNRPD3 | ENSG00000100028.12 | transcript | ENST00000215829.8 | protein_coding | 126 | chr22 | TogoVar | |||||||
SNRPD3_chr22_24550999_24579971 | 24575625 | CA | C | downstream_gene_variant | MODIFIER | HG02280.hp1 HG02451.hp1 HG02895.hp1 others(9): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0004a0001c0002t0008others(1): Show | a0001c0002t0003g0027a0001c0002t0003g0171a0001c0002t0003g0172others(9): Show | 12 | 400 | 0.0300 | -1 | c.*36 others(6): Show |
SNRPD3 | ENSG00000100028.12 | transcript | ENST00000215829.8 | protein_coding | 655 | chr22 | TogoVar | |||||||
SNRPD3_chr22_24550999_24579971 | 24577110 | AG | A | downstream_gene_variant | MODIFIER | HG03688.hp1 HG03704.hp1 NA19055.hp2 |
a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0279a0001c0002t0008g0280a0001c0002t0008g0281 | 3 | 400 | 0.0075 | -1 | c.*51 others(6): Show |
SNRPD3 | ENSG00000100028.12 | transcript | ENST00000215829.8 | protein_coding | 2140 | chr22 | TogoVar | |||||||
SNRPE_chr1_203856599_203876152 | 203856980 | CT | C | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00642.hp2 HG00735.hp1 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0031others(22): Show | 36 | 416 | 0.0865 | -1 | c.-46 others(6): Show |
SNRPE | ENSG00000182004.13 | transcript | ENST00000414487.7 | protein_coding | 4618 | chr1 | TogoVar | |||||||
SNRPE_chr1_203856599_203876152 | 203858037 | CA | C | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(69): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(35): Show | 72 | 416 | 0.1731 | -1 | c.-36 others(6): Show |
SNRPE | ENSG00000182004.13 | transcript | ENST00000414487.7 | protein_coding | 3561 | chr1 | TogoVar |