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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CREBRF_chr5_173051352_173144284 | 173129106 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG01167.hp2 HG02280.hp1 others(7): Show |
a0001 | a0001c0002 | a0001c0002t0007a0001c0002t0012 | a0001c0002t0007g0001 a0001c0002t0007g0063 a0001c0002t0007g0064 others(6): Show |
10 | 102 | 0.0980 | -9 | c.180 others(28): Show |
CREBRF | ENSG00000164463.12 | transcript | ENST00000296953.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CREG1_chr1_167536013_167558762 | 167540386 | TAGCAGCA others(2): Show |
T | downstream_gene_variant | MODIFIER | HG00438.hp2 HG00639.hp1 HG00642.hp1 others(86): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0108 a0001c0001t0001g0119 others(16): Show |
89 | 118 | 0.7542 | -9 | c.*19 others(20): Show |
CREG1 | ENSG00000143162.9 | transcript | ENST00000370509.5 | protein_coding | 626 | chr1 | TogoVar | |||||||
CREG2_chr2_101340550_101392503 | 101390744 | GATTATTA others(2): Show |
G | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00544.hp2 others(58): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0015 others(45): Show |
61 | 126 | 0.4841 | -9 | c.-32 others(20): Show |
CREG2 | ENSG00000175874.10 | transcript | ENST00000324768.6 | protein_coding | 3242 | chr2 | TogoVar | |||||||
CREM_chr10_35121846_35217953 | 35135737 | AAAAAAAG others(2): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG00741.hp2 HG01074.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007 | a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0022 others(3): Show |
6 | 292 | 0.0205 | -9 | c.-54 others(26): Show |
CREM | ENSG00000095794.21 | transcript | ENST00000685392.1 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CRIM1_chr2_36350778_36556135 | 36391118 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG01069.hp1 others(53): Show |
a0001a0009a0011 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(27): Show | a0001c0001t0003g0109 a0001c0001t0003g0114 a0001c0001t0003g0132 others(52): Show |
56 | 105 | 0.5333 | -9 | c.332 others(26): Show |
CRIM1 | ENSG00000150938.10 | transcript | ENST00000280527.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CRIM1_chr2_36350778_36556135 | 36463766 | GAGCCAGC others(2): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG02886.hp2 HG02922.hp2 others(1): Show |
a0001 | a0001c0004a0001c0025 | a0001c0004t0017a0001c0025t0012 | a0001c0004t0017g0036 a0001c0004t0017g0065 a0001c0004t0017g0240 others(1): Show |
4 | 322 | 0.0124 | -9 | c.870 others(24): Show |
CRIM1 | ENSG00000150938.10 | transcript | ENST00000280527.7 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CRIM1_chr2_36350778_36556135 | 36544331 | ACAGCAGC others(2): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02886.hp2 HG02922.hp2 others(1): Show |
a0001 | a0001c0004a0001c0025 | a0001c0004t0017a0001c0025t0012 | a0001c0004t0017g0036 a0001c0004t0017g0065 a0001c0004t0017g0240 others(1): Show |
4 | 322 | 0.0124 | -9 | c.262 others(24): Show |
CRIM1 | ENSG00000150938.10 | transcript | ENST00000280527.7 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CRISP2_chr6_49687359_49718543 | 49702139 | CTATATAT others(2): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00621.hp1 others(44): Show |
a0001a0007 | a0001c0001a0007c0009 | a0001c0001t0001a0001c0001t0002a0007c0009t0001 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 others(22): Show |
47 | 48 | 0.9792 | -9 | c.67- others(24): Show |
CRISP2 | ENSG00000124490.14 | transcript | ENST00000339139.5 | protein_coding | 4/9 | chr6 | TogoVar | |||||||
CRISP3_chr6_49722376_49749388 | 49725599 | CTTTTTTT others(2): Show |
C | downstream_gene_variant | MODIFIER | HG02602.hp1 HG02615.hp2 HG02717.hp1 others(3): Show |
a0002 | a0002c0002a0002c0005 | a0002c0002t0001a0002c0002t0010a0002c0005t0008 | a0002c0002t0001g0045 a0002c0002t0001g0062 a0002c0002t0001g0063 others(3): Show |
6 | 24 | 0.2500 | -9 | c.*31 others(20): Show |
CRISP3 | ENSG00000096006.12 | transcript | ENST00000263045.9 | protein_coding | 1776 | chr6 | TogoVar | |||||||
CRISPLD2_chr16_84814985_84914508 | 84912916 | CCTGGGAT others(2): Show |
C | downstream_gene_variant | MODIFIER | HG02896.hp2 HG02897.hp2 NA18522.hp1 |
a0001a0003 | a0001c0002a0003c0007 | a0001c0002t0067a0003c0007t0026 | a0001c0002t0067g0198 a0003c0007t0026g0178 a0003c0007t0026g0179 |
3 | 378 | 0.0079 | -9 | c.*62 others(20): Show |
CRISPLD2 | ENSG00000103196.12 | transcript | ENST00000262424.10 | protein_coding | 3409 | chr16 | TogoVar | |||||||
CRKL_chr22_20912407_20958747 | 20922006 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00673.hp2 HG01074.hp2 HG01123.hp1 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0012a0001c0001t0025others(4): Show | a0001c0001t0003g0003 a0001c0001t0003g0070 a0001c0001t0003g0071 others(24): Show |
28 | 145 | 0.1931 | -9 | c.311 others(26): Show |
CRKL | ENSG00000099942.13 | transcript | ENST00000354336.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CRKL_chr22_20912407_20958747 | 20953424 | AAACAACA others(2): Show |
A | 3_prime_UTR_variant | MODIFIER | HG01074.hp2 HG01891.hp1 HG02145.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0009a0001c0001t0029 | a0001c0001t0004g0005 a0001c0001t0004g0006 a0001c0001t0004g0143 others(16): Show |
21 | 101 | 0.2079 | -9 | c.*35 others(20): Show |
CRKL | ENSG00000099942.13 | transcript | ENST00000354336.8 | protein_coding | 3/3 | 3599 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CRLF2_chrX_1185490_1217649 | 1200739 | ATAGATAA others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(92): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(20): Show | a0001c0001t0001g0024 a0001c0001t0001g0045 a0001c0001t0001g0057 others(92): Show |
95 | 165 | 0.5758 | -9 | c.483 others(26): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 4/7 | chrX | TogoVar | |||||||
CRLF3_chr17_30777684_30829692 | 30777688 | GTTAATAT others(2): Show |
G | downstream_gene_variant | MODIFIER | HG00544.hp1 HG00639.hp2 HG00642.hp2 others(108): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0023others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0093 a0001c0001t0001g0094 others(103): Show |
111 | 322 | 0.3447 | -9 | c.*64 others(20): Show |
CRLF3 | ENSG00000176390.12 | transcript | ENST00000324238.7 | protein_coding | 4995 | chr17 | TogoVar | |||||||
CRLF3_chr17_30777684_30829692 | 30781432 | ATTTTTTT others(2): Show |
A | downstream_gene_variant | MODIFIER | HG02074.hp1 HG02486.hp2 HG02523.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0003 | a0001c0001t0001g0100 a0002c0003t0003g0123 a0002c0003t0003g0124 others(7): Show |
10 | 91 | 0.1099 | -9 | c.*27 others(20): Show |
CRLF3 | ENSG00000176390.12 | transcript | ENST00000324238.7 | protein_coding | 1251 | chr17 | TogoVar | |||||||
CRLF3_chr17_30777684_30829692 | 30807517 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG01358.hp2 HG01981.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002a0001c0002t0009others(1): Show | a0001c0001t0001g0210 a0001c0002t0002g0026 a0001c0002t0002g0052 others(3): Show |
6 | 89 | 0.0674 | -9 | c.130 others(26): Show |
CRLF3 | ENSG00000176390.12 | transcript | ENST00000324238.7 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
CRMP1_chr4_5815764_5898086 | 5846757 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(61): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(9): Show | a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0090 others(59): Show |
64 | 94 | 0.6809 | -9 | c.963 others(26): Show |
CRMP1 | ENSG00000072832.15 | transcript | ENST00000324989.12 | protein_coding | 6/13 | chr4 | TogoVar | |||||||
CROCC2_chr2_240901336_240998311 | 240901387 | CTTTTTTT others(2): Show |
C | upstream_gene_variant | MODIFIER | HG01496.hp1 HG01884.hp2 HG01891.hp1 others(8): Show |
a0001a0007a0008others(4): Show | a0001c0001a0001c0024a0007c0007others(5): Show | a0001c0001t0004a0001c0024t0002a0007c0007t0001others(6): Show | a0001c0001t0004g0307 a0001c0001t0004g0314 a0001c0024t0002g0342 others(8): Show |
11 | 103 | 0.1068 | -9 | c.-51 others(20): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4948 | chr2 | TogoVar | |||||||
CROCC2_chr2_240901336_240998311 | 240984673 | CCACCACA others(2): Show |
C | intron_variant | MODIFIER | NA18967.hp1 NA18994.hp1 NA19004.hp2 others(1): Show |
a0002a0003a0011 | a0002c0002a0002c0011a0003c0003others(1): Show | a0002c0002t0001a0002c0011t0002a0003c0003t0001others(1): Show | a0002c0002t0001g0141 a0002c0011t0002g0337 a0003c0003t0001g0054 others(1): Show |
4 | 348 | 0.0115 | -9 | c.455 others(28): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 28/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CROCC2_chr2_240901336_240998311 | 240985202 | TCCACCAC others(2): Show |
T | intron_variant | MODIFIER | HG01081.hp2 HG02004.hp2 HG02129.hp1 others(19): Show |
a0001a0005a0006others(3): Show | a0001c0001a0001c0022a0005c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0022t0002others(7): Show | a0001c0001t0001g0122 a0001c0001t0001g0172 a0001c0001t0001g0177 others(19): Show |
22 | 337 | 0.0653 | -9 | c.455 others(28): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 28/31 | chr2 | TogoVar | |||||||
CROCC2_chr2_240901336_240998311 | 240985568 | ACACACCC others(2): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG00733.hp1 others(68): Show |
a0001a0002a0003others(23): Show | a0001c0001a0001c0024a0001c0060others(29): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0104 a0001c0001t0001g0133 a0001c0001t0001g0134 others(68): Show |
71 | 347 | 0.2046 | -9 | c.455 others(28): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 28/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CROCC2_chr2_240901336_240998311 | 240985650 | ACACACCC others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(35): Show |
a0001a0002a0003others(12): Show | a0001c0020a0002c0002a0002c0012others(16): Show | a0001c0020t0001a0001c0020t0002a0002c0002t0001others(18): Show | a0001c0020t0001g0137 a0001c0020t0002g0312 a0002c0002t0001g0010 others(35): Show |
38 | 348 | 0.1092 | -9 | c.455 others(28): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 28/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CRPPA_chr7_16082525_16426538 | 16340607 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00621.hp2 HG00642.hp2 others(49): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0010others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0092 a0001c0001t0001g0114 a0001c0001t0001g0126 others(49): Show |
52 | 288 | 0.1806 | -9 | c.685 others(28): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 3/9 | chr7 | TogoVar | |||||||
CRTAC1_chr10_97860000_98035621 | 97997230 | TATAATAA others(2): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG02055.hp2 HG03486.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0136 a0001c0001t0001g0182 a0001c0003t0001g0030 |
3 | 99 | 0.0303 | -9 | c.224 others(28): Show |
CRTAC1 | ENSG00000095713.14 | transcript | ENST00000370597.8 | protein_coding | 2/14 | chr10 | TogoVar | |||||||
CRTAC1_chr10_97860000_98035621 | 98018199 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG02109.hp1 others(13): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(5): Show | a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0046 others(13): Show |
16 | 66 | 0.2424 | -9 | c.25- others(24): Show |
CRTAC1 | ENSG00000095713.14 | transcript | ENST00000370597.8 | protein_coding | 1/14 | chr10 | TogoVar | |||||||
CRX_chr19_47816937_47848324 | 47848203 | CAAAAAAA others(2): Show |
C | downstream_gene_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01891.hp2 others(10): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0008a0001c0001t0027a0001c0001t0028others(3): Show | a0001c0001t0008g0169 a0001c0001t0008g0171 a0001c0001t0008g0173 others(10): Show |
13 | 151 | 0.0861 | -9 | c.*82 others(20): Show |
CRX | ENSG00000105392.17 | transcript | ENST00000221996.12 | protein_coding | 4880 | chr19 | TogoVar | |||||||
CRY1_chr12_106986364_107098549 | 106988017 | AAAACTGG others(2): Show |
A | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00597.hp1 others(103): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(96): Show |
106 | 318 | 0.3333 | -9 | c.*39 others(20): Show |
CRY1 | ENSG00000008405.12 | transcript | ENST00000008527.10 | protein_coding | 3346 | chr12 | TogoVar | |||||||
CRY1_chr12_106986364_107098549 | 107009562 | ACATATAT others(2): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG01074.hp2 HG01192.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0053 a0001c0001t0001g0056 others(9): Show |
13 | 275 | 0.0473 | -9 | c.268 others(26): Show |
CRY1 | ENSG00000008405.12 | transcript | ENST00000008527.10 | protein_coding | 2/12 | chr12 | TogoVar | |||||||
CRY1_chr12_106986364_107098549 | 107052183 | ATACCCAG others(2): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00597.hp1 others(95): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0009a0001c0006t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(89): Show |
98 | 318 | 0.3082 | -9 | c.159 others(28): Show |
CRY1 | ENSG00000008405.12 | transcript | ENST00000008527.10 | protein_coding | 1/12 | chr12 | TogoVar | |||||||
CRY1_chr12_106986364_107098549 | 107073138 | TGGGAAAG others(2): Show |
T | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp2 HG01884.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0013 | a0001c0001t0004g0009 a0001c0001t0004g0160 a0001c0001t0004g0163 others(8): Show |
12 | 318 | 0.0377 | -9 | c.158 others(28): Show |
CRY1 | ENSG00000008405.12 | transcript | ENST00000008527.10 | protein_coding | 1/12 | chr12 | TogoVar | |||||||
CRY1_chr12_106986364_107098549 | 107083021 | TCCCTCAG others(2): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02027.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0156 a0001c0001t0008g0171 a0001c0001t0008g0172 |
3 | 318 | 0.0094 | -9 | c.158 others(26): Show |
CRY1 | ENSG00000008405.12 | transcript | ENST00000008527.10 | protein_coding | 1/12 | chr12 | TogoVar | |||||||
CRYBG1_chr6_106355717_106577017 | 106552582 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG02280.hp1 others(12): Show |
a0002a0007a0019others(6): Show | a0002c0003a0007c0007a0019c0040others(8): Show | a0002c0003t0003a0007c0007t0003a0019c0040t0001others(8): Show | a0002c0003t0003g0217 a0002c0003t0003g0218 a0007c0007t0003g0072 others(12): Show |
15 | 29 | 0.5172 | -9 | c.547 others(26): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CRYL1_chr13_20398669_20530857 | 20460511 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00609.hp1 HG00609.hp2 others(55): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0052 others(55): Show |
58 | 62 | 0.9355 | -9 | c.277 others(28): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 3/7 | chr13 | TogoVar | |||||||
CRYL1_chr13_20398669_20530857 | 20508867 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG00642.hp2 HG00673.hp1 others(35): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 others(35): Show |
38 | 248 | 0.1532 | -9 | c.149 others(26): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 2/7 | chr13 | TogoVar | |||||||
CRYL1_chr13_20398669_20530857 | 20529996 | GGCTGTTC others(2): Show |
G | upstream_gene_variant | MODIFIER | HG02055.hp2 HG02258.hp2 HG02280.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0091 others(8): Show |
11 | 248 | 0.0444 | -9 | c.-42 others(20): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 4140 | chr13 | TogoVar | |||||||
CRYZ_chr1_74700486_74738050 | 74702929 | AGTGTGTG others(2): Show |
A | downstream_gene_variant | MODIFIER | HG01981.hp2 HG02257.hp2 HG02559.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0003 | a0001c0001t0006a0001c0006t0010a0002c0003t0006 | a0001c0001t0006g0124 a0001c0001t0006g0178 a0001c0006t0010g0113 others(2): Show |
5 | 86 | 0.0581 | -9 | c.*33 others(20): Show |
CRYZ | ENSG00000116791.14 | transcript | ENST00000340866.10 | protein_coding | 2556 | chr1 | TogoVar | |||||||
CSDE1_chr1_114711916_114762984 | 114753290 | TGAAACTC others(2): Show |
T | intron_variant | MODIFIER | HG01433.hp2 HG01891.hp2 HG02257.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0017a0001c0002t0001others(1): Show | a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0017g0045 others(7): Show |
12 | 326 | 0.0368 | -9 | c.-38 others(28): Show |
CSDE1 | ENSG00000009307.17 | transcript | ENST00000358528.9 | protein_coding | 1/19 | chr1 | TogoVar | |||||||
CSE1L_chr20_49041312_49101949 | 49053147 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG00609.hp2 others(81): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0011 a0001c0001t0001g0133 a0001c0001t0001g0134 others(81): Show |
84 | 184 | 0.4565 | -9 | c.-11 others(26): Show |
CSE1L | ENSG00000124207.17 | transcript | ENST00000262982.3 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CSE1L_chr20_49041312_49101949 | 49087022 | TATGCTTG others(2): Show |
T | intron_variant | MODIFIER | HG00673.hp2 HG00738.hp2 HG01934.hp2 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 others(30): Show |
33 | 384 | 0.0859 | -9 | c.172 others(26): Show |
CSE1L | ENSG00000124207.17 | transcript | ENST00000262982.3 | protein_coding | 16/24 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CSE1L_chr20_49041312_49101949 | 49098322 | TTTGTTGT others(2): Show |
T | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(141): Show |
a0001a0003a0005 | a0001c0001a0001c0006a0001c0009others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0265 others(137): Show |
144 | 158 | 0.9114 | -9 | c.*18 others(20): Show |
CSE1L | ENSG00000124207.17 | transcript | ENST00000262982.3 | protein_coding | 1374 | chr20 | TogoVar | |||||||
CSF2RA_chrX_1263814_1314935 | 1269643 | AAAAGAGA others(2): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp1 HG02622.hp2 others(1): Show |
a0001a0002a0004 | a0001c0001a0002c0003a0004c0010 | a0001c0001t0002a0002c0003t0005a0004c0010t0006 | a0001c0001t0002g0032 a0001c0001t0002g0033 a0002c0003t0005g0138 others(1): Show |
4 | 157 | 0.0255 | -9 | c.-91 others(24): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1280865 | CCTCCTCC others(2): Show |
C | intron_variant | MODIFIER | HG02922.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0049 a0001c0001t0002g0050 |
2 | 157 | 0.0127 | -9 | c.-26 others(26): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19618648 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG01071.hp2 HG01192.hp1 HG01261.hp2 others(7): Show |
a0001a0007a0008 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0017a0001c0002t0004a0001c0002t0022others(6): Show | a0001c0001t0017g0165 a0001c0002t0004g0144 a0001c0002t0004g0153 others(7): Show |
10 | 236 | 0.0424 | -9 | c.-39 others(30): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19716612 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG02258.hp2 HG03139.hp1 HG03486.hp1 others(2): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0002a0001c0002t0025a0002c0003t0005others(2): Show | a0001c0001t0002g0146 a0001c0002t0025g0001 a0002c0003t0005g0190 others(2): Show |
5 | 30 | 0.1667 | -9 | c.-39 others(30): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3155359 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG01123.hp1 HG02056.hp1 HG02451.hp1 others(8): Show |
a0001a0002a0004others(3): Show | a0001c0002a0001c0050a0001c0093others(7): Show | a0001c0002t0002a0001c0002t0061a0001c0050t0052others(8): Show | a0001c0002t0002g0083 a0001c0002t0061g0069 a0001c0050t0052g0120 others(8): Show |
11 | 16 | 0.6875 | -9 | c.591 others(28): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 39/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3309114 | CCCTCTAG others(2): Show |
C | intron_variant | MODIFIER | HG02258.hp2 HG02572.hp2 NA19240.hp1 |
a0001a0008 | a0001c0085a0001c0115a0008c0029 | a0001c0085t0020a0001c0115t0042a0008c0029t0013 | a0001c0085t0020g0060 a0001c0115t0042g0055 a0008c0029t0013g0054 |
3 | 126 | 0.0238 | -9 | c.363 others(26): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 23/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3394021 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG01071.hp1 HG01261.hp1 HG02056.hp1 others(8): Show |
a0001a0002a0004others(3): Show | a0001c0002a0001c0108a0002c0037others(6): Show | a0001c0002t0002a0001c0002t0026a0001c0002t0061others(8): Show | a0001c0002t0002g0083 a0001c0002t0026g0005 a0001c0002t0061g0069 others(8): Show |
11 | 90 | 0.1222 | -9 | c.259 others(28): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 17/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3439301 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG01884.hp2 HG02056.hp2 others(16): Show |
a0001a0002a0003others(5): Show | a0001c0004a0001c0006a0001c0026others(15): Show | a0001c0004t0020a0001c0004t0063a0001c0006t0002others(16): Show | a0001c0004t0020g0086 a0001c0004t0063g0095 a0001c0006t0002g0109 others(16): Show |
19 | 126 | 0.1508 | -9 | c.156 others(30): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 12/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3511763 | ATAACATA others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00735.hp1 HG01123.hp1 others(19): Show |
a0001a0002a0006others(6): Show | a0001c0001a0001c0005a0001c0006others(18): Show | a0001c0001t0002a0001c0005t0006a0001c0006t0060others(18): Show | a0001c0001t0002g0102 a0001c0001t0002g0125 a0001c0005t0006g0070 others(19): Show |
22 | 108 | 0.2037 | -9 | c.134 others(30): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 10/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3564642 | TTAGTTCT others(2): Show |
T | intron_variant | MODIFIER | HG01071.hp2 HG01081.hp2 HG01123.hp1 others(44): Show |
a0001a0002a0003others(13): Show | a0001c0002a0001c0003a0001c0004others(42): Show | a0001c0002t0026a0001c0003t0008a0001c0003t0019others(44): Show | a0001c0002t0026g0005 a0001c0003t0008g0053 a0001c0003t0019g0107 others(44): Show |
47 | 126 | 0.3730 | -9 | c.134 others(30): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 10/69 | chr8 | TogoVar |