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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CHL1_chr3_191763_414417 | 319693 | A | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03098.hp1 | a0010 | a0010c0009 | a0010c0009t0047 | a0010c0009t0047g0011 | 1 | 290 | 0.0035 | 0 | c.-84 others(3): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 3/28 | chr3 | TogoVar | ||||||
CHML_chr1_241623851_241645369 | 241640103 | A | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0063 | a0001c0001t0063g0095 | 1 | 452 | 0.0022 | 0 | c.-52 others(4): Show |
CHML | ENSG00000203668.3 | transcript | ENST00000366553.3 | protein_coding | 1/2 | chr1 | TogoVar | ||||||
CHML_chr1_241623851_241645369 | 241640299 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0069 | a0001c0001t0069g0103 | 1 | 452 | 0.0022 | 0 | c.-72 others(4): Show |
CHML | ENSG00000203668.3 | transcript | ENST00000366553.3 | protein_coding | 1/2 | chr1 | TogoVar | ||||||
CHMP1A_chr16_89639435_89662708 | 89657687 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0354 | 1 | 392 | 0.0026 | 0 | c.-99 others(3): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 1/7 | chr16 | TogoVar | ||||||
CHMP4C_chr8_81727448_81764515 | 81732574 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0231 | 1 | 408 | 0.0025 | 0 | c.-53 others(3): Show |
CHMP4C | ENSG00000164695.5 | transcript | ENST00000297265.5 | protein_coding | 1/5 | chr8 | TogoVar | ||||||
CHMP7_chr8_23238637_23266999 | 23246590 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03540.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0034a0001c0001t0035 | a0001c0001t0034g0053a0001c0001t0035g0054 | 2 | 438 | 0.0046 | 0 | c.-10 others(4): Show |
CHMP7 | ENSG00000147457.14 | transcript | ENST00000397677.6 | protein_coding | 2/11 | chr8 | TogoVar | ||||||
CHMP7_chr8_23238637_23266999 | 23246694 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0316 | 1 | 438 | 0.0023 | 0 | c.-2C others(2): Show |
CHMP7 | ENSG00000147457.14 | transcript | ENST00000397677.6 | protein_coding | 2/11 | chr8 | TogoVar | ||||||
CHN1_chr2_174793809_175010381 | 175005345 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02257.hp1 HG02257.hp2 HG02486.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0015a0001c0001t0016 | a0001c0001t0004g0262a0001c0001t0004g0263a0001c0001t0004g0264others(13): Show | 16 | 276 | 0.0580 | 0 | c.-43 others(4): Show |
CHN1 | ENSG00000128656.15 | transcript | ENST00000409900.9 | protein_coding | 1/13 | chr2 | TogoVar | ||||||
CHODL_chr21_18239833_18272370 | 18244929 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00741.hp2 HG01243.hp2 HG03130.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0014 | a0001c0001t0013g0048a0001c0001t0014g0304a0001c0001t0014g0305 | 4 | 402 | 0.0100 | 0 | c.-29 others(4): Show |
CHODL | ENSG00000154645.14 | transcript | ENST00000299295.7 | protein_coding | 1/6 | chr21 | TogoVar | ||||||
CHODL_chr21_18239833_18272370 | 18245102 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0303 | 1 | 402 | 0.0025 | 0 | c.-12 others(4): Show |
CHODL | ENSG00000154645.14 | transcript | ENST00000299295.7 | protein_coding | 1/6 | chr21 | TogoVar | ||||||
CHORDC1_chr11_90195429_90228049 | 90223038 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01099.hp1 HG01123.hp2 HG01256.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0012a0001c0001t0007g0185 | 7 | 412 | 0.0170 | 0 | c.-84 others(3): Show |
CHORDC1 | ENSG00000110172.12 | transcript | ENST00000320585.11 | protein_coding | 1/11 | chr11 | TogoVar | ||||||
CHPF2_chr7_151227483_151243822 | 151232755 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01952.hp1 HG02647.hp1 HG03130.hp2 others(2): Show |
a0001a0004 | a0001c0001a0004c0008 | a0001c0001t0006a0001c0001t0016a0004c0008t0006 | a0001c0001t0006g0003a0001c0001t0016g0003a0004c0008t0006g0006 | 5 | 382 | 0.0131 | 0 | c.-12 others(5): Show |
CHPF2 | ENSG00000033100.17 | transcript | ENST00000035307.7 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
CHPF2_chr7_151227483_151243822 | 151233013 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02109.hp2 HG02258.hp1 HG02572.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0012 | a0001c0001t0004g0007a0001c0001t0012g0007 | 7 | 382 | 0.0183 | 0 | c.-99 others(4): Show |
CHPF2 | ENSG00000033100.17 | transcript | ENST00000035307.7 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
CHPF2_chr7_151227483_151243822 | 151233045 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01175.hp1 | a0002 | a0002c0003 | a0002c0003t0011 | a0002c0003t0011g0004 | 1 | 382 | 0.0026 | 0 | c.-96 others(4): Show |
CHPF2 | ENSG00000033100.17 | transcript | ENST00000035307.7 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
CHPF2_chr7_151227483_151243822 | 151233277 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(21): Show |
a0001a0007a0009 | a0001c0001a0007c0010a0009c0013 | a0001c0001t0003a0001c0001t0018a0007c0010t0003others(1): Show | a0001c0001t0003g0005a0001c0001t0003g0006a0001c0001t0003g0013others(3): Show | 24 | 382 | 0.0628 | 0 | c.-73 others(4): Show |
CHPF2 | ENSG00000033100.17 | transcript | ENST00000035307.7 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
CHPF2_chr7_151227483_151243822 | 151233563 | G | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00735.hp2 HG01884.hp1 HG03516.hp2 |
a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0001 | 3 | 382 | 0.0079 | 0 | c.-44 others(4): Show |
CHPF2 | ENSG00000033100.17 | transcript | ENST00000035307.7 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
CHPF2_chr7_151227483_151243822 | 151233879 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(285): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0002a0001c0004others(16): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(28): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0006others(42): Show | 288 | 382 | 0.7539 | 0 | c.-13 others(4): Show |
CHPF2 | ENSG00000033100.17 | transcript | ENST00000035307.7 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
CHPT1_chr12_101692640_101734074 | 101697712 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02074.hp2 NA18978.hp1 |
a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0193a0002c0002t0006g0198 | 2 | 402 | 0.0050 | 0 | c.-15 others(4): Show |
CHPT1 | ENSG00000111666.11 | transcript | ENST00000229266.8 | protein_coding | 1/9 | chr12 | TogoVar | ||||||
CHPT1_chr12_101692640_101734074 | 101697726 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00609.hp1 HG00621.hp1 NA18942.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0023a0001c0001t0003g0045a0001c0001t0003g0048others(3): Show | 9 | 402 | 0.0224 | 0 | c.-13 others(4): Show |
CHPT1 | ENSG00000111666.11 | transcript | ENST00000229266.8 | protein_coding | 1/9 | chr12 | TogoVar | ||||||
CHRDL2_chr11_74691429_74736426 | 74731038 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00099.hp2 HG00639.hp2 HG01070.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0005a0001c0002t0003a0001c0004t0003others(2): Show | a0001c0001t0005g0346a0001c0002t0003g0232a0001c0002t0003g0233others(16): Show | 21 | 392 | 0.0536 | 0 | c.-15 others(4): Show |
CHRDL2 | ENSG00000054938.17 | transcript | ENST00000376332.8 | protein_coding | 1/11 | chr11 | TogoVar | ||||||
CHRDL2_chr11_74691429_74736426 | 74731245 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(138): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(16): Show | a0001c0001t0002g0001a0001c0001t0002g0003a0001c0001t0002g0007others(117): Show | 141 | 392 | 0.3597 | 0 | c.-35 others(4): Show |
CHRDL2 | ENSG00000054938.17 | transcript | ENST00000376332.8 | protein_coding | 1/11 | chr11 | TogoVar | ||||||
CHRFAM7A_chr15_30355566_30398540 | 30393395 | T | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(33): Show |
a0002a0003a0004others(1): Show | a0002c0002a0002c0010a0002c0011others(8): Show | a0002c0002t0006a0002c0002t0007a0002c0010t0021others(14): Show | a0002c0002t0006g0017a0002c0002t0007g0019a0002c0002t0007g0023others(31): Show | 36 | 133 | 0.2707 | 0 | c.-30 others(4): Show |
CHRFAM7A | ENSG00000166664.15 | transcript | ENST00000299847.7 | protein_coding | 1/10 | chr15 | TogoVar | ||||||
CHRM5_chr15_33963497_34072458 | 33969091 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0265 | 1 | 338 | 0.0030 | 0 | c.-46 others(4): Show |
CHRM5 | ENSG00000184984.10 | transcript | ENST00000383263.7 | protein_coding | 1/3 | chr15 | TogoVar | ||||||
CHRNA1_chr2_174742592_174769472 | 174764403 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA21309.hp2 | a0001 | a0001c0007 | a0001c0007t0008 | a0001c0007t0008g0168 | 1 | 370 | 0.0027 | 0 | c.-9C others(2): Show |
CHRNA1 | ENSG00000138435.16 | transcript | ENST00000348749.9 | protein_coding | 1/9 | chr2 | TogoVar | ||||||
CHRNA2_chr8_27454756_27484261 | 27479002 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA19003.hp1 | a0003 | a0003c0003 | a0003c0003t0052 | a0003c0003t0052g0265 | 1 | 458 | 0.0022 | 0 | c.-31 others(4): Show |
CHRNA2 | ENSG00000120903.13 | transcript | ENST00000407991.3 | protein_coding | 1/7 | chr8 | TogoVar | ||||||
CHRNA3_chr15_78590309_78625996 | 78620911 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02559.hp1 | a0002 | a0002c0002 | a0002c0002t0024 | a0002c0002t0024g0296 | 1 | 410 | 0.0024 | 0 | c.-11 others(4): Show |
CHRNA3 | ENSG00000080644.16 | transcript | ENST00000326828.6 | protein_coding | 1/6 | chr15 | TogoVar | ||||||
CHRNA5_chr15_78560520_78600269 | 78565644 | C | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(57): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0004a0003c0003others(3): Show | a0001c0001t0008a0001c0001t0009a0001c0001t0016others(9): Show | a0001c0001t0008g0135a0001c0001t0008g0303a0001c0001t0009g0042others(45): Show | 60 | 382 | 0.1571 | 0 | c.-76 others(3): Show |
CHRNA5 | ENSG00000169684.13 | transcript | ENST00000299565.9 | protein_coding | 1/6 | chr15 | TogoVar | ||||||
CHRNA6_chr8_42747620_42773786 | 42768443 | C | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0039 | 1 | 350 | 0.0029 | 0 | c.-13 others(3): Show |
CHRNA6 | ENSG00000147434.9 | transcript | ENST00000276410.7 | protein_coding | 1/6 | chr8 | TogoVar | ||||||
CHRNB2_chr1_154562778_154585013 | 154567919 | G | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0052 | a0001c0001t0052g0001 | 1 | 424 | 0.0024 | 0 | c.-12 others(4): Show |
CHRNB2 | ENSG00000160716.6 | transcript | ENST00000368476.4 | protein_coding | 1/6 | chr1 | TogoVar | ||||||
CHRNB3_chr8_42692366_42742407 | 42697490 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(121): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(4): Show | a0001c0001t0002g0004a0001c0001t0002g0005a0001c0001t0002g0006others(118): Show | 124 | 282 | 0.4397 | 0 | c.-57 others(3): Show |
CHRNB3 | ENSG00000147432.7 | transcript | ENST00000289957.3 | protein_coding | 1/6 | chr8 | TogoVar | ||||||
CHST14_chr15_40465984_40478158 | 40471182 | G | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0000 | 1 | 412 | 0.0024 | 0 | c.-32 others(3): Show |
CHST14 | ENSG00000169105.8 | transcript | ENST00000306243.7 | protein_coding | 1/1 | chr15 | TogoVar | ||||||
CHST15_chr10_124002668_124098598 | 124046488 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02109.hp2 HG03098.hp1 NA20805.hp1 |
a0001 | a0001c0003 | a0001c0003t0017a0001c0003t0033 | a0001c0003t0017g0115a0001c0003t0017g0116a0001c0003t0033g0117 | 3 | 392 | 0.0077 | 0 | c.-27 others(4): Show |
CHST15 | ENSG00000182022.18 | transcript | ENST00000435907.6 | protein_coding | 2/8 | chr10 | TogoVar | ||||||
CHST1_chr11_45642689_45670622 | 45665387 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0079 | 1 | 386 | 0.0026 | 0 | c.-43 others(4): Show |
CHST1 | ENSG00000175264.8 | transcript | ENST00000308064.7 | protein_coding | 1/4 | chr11 | TogoVar | ||||||
CHST2_chr3_143114771_143129014 | 143120381 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA19055.hp2 | a0001 | a0001c0001 | a0001c0001t0051 | a0001c0001t0051g0001 | 1 | 464 | 0.0022 | 0 | c.-33 others(4): Show |
CHST2 | ENSG00000175040.6 | transcript | ENST00000309575.5 | protein_coding | 1/2 | chr3 | TogoVar | ||||||
CHST3_chr10_71959395_72018558 | 71964528 | G | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01081.hp1 HG01433.hp1 HG02451.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0031a0001c0001t0072a0001c0001t0073others(4): Show | a0001c0001t0031g0043a0001c0001t0031g0044a0001c0001t0072g0045others(8): Show | 12 | 372 | 0.0323 | 0 | c.-27 others(4): Show |
CHST3 | ENSG00000122863.6 | transcript | ENST00000373115.5 | protein_coding | 1/3 | chr10 | TogoVar | ||||||
CHST5_chr16_75523530_75541108 | 75530502 | G | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03195.hp1 | a0001 | a0001c0004 | a0001c0004t0044 | a0001c0004t0044g0084 | 1 | 394 | 0.0025 | 0 | c.-11 others(4): Show |
CHST5 | ENSG00000135702.15 | transcript | ENST00000336257.8 | protein_coding | 4/4 | chr16 | TogoVar | ||||||
CHST5_chr16_75523530_75541108 | 75531105 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02055.hp1 HG02280.hp2 HG03098.hp2 |
a0004 | a0004c0006 | a0004c0006t0017a0004c0006t0026 | a0004c0006t0017g0064a0004c0006t0017g0065a0004c0006t0026g0062 | 3 | 394 | 0.0076 | 0 | c.-72 others(4): Show |
CHST5 | ENSG00000135702.15 | transcript | ENST00000336257.8 | protein_coding | 4/4 | chr16 | TogoVar | ||||||
CHST5_chr16_75523530_75541108 | 75531215 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0040 | 1 | 394 | 0.0025 | 0 | c.-83 others(4): Show |
CHST5 | ENSG00000135702.15 | transcript | ENST00000336257.8 | protein_coding | 4/4 | chr16 | TogoVar | ||||||
CHST5_chr16_75523530_75541108 | 75531316 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA18993.hp1 NA19009.hp2 NA19065.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0037 | a0001c0001t0014g0019a0001c0001t0037g0043 | 4 | 394 | 0.0102 | 0 | c.-93 others(4): Show |
CHST5 | ENSG00000135702.15 | transcript | ENST00000336257.8 | protein_coding | 4/4 | chr16 | TogoVar | ||||||
CHST5_chr16_75523530_75541108 | 75531335 | A | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03130.hp1 | a0001 | a0001c0007 | a0001c0007t0027 | a0001c0007t0027g0056 | 1 | 394 | 0.0025 | 0 | c.-95 others(4): Show |
CHST5 | ENSG00000135702.15 | transcript | ENST00000336257.8 | protein_coding | 4/4 | chr16 | TogoVar | ||||||
CHST5_chr16_75523530_75541108 | 75531344 | A | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(280): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(33): Show | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0014others(75): Show | 283 | 394 | 0.7183 | 0 | c.-96 others(4): Show |
CHST5 | ENSG00000135702.15 | transcript | ENST00000336257.8 | protein_coding | 4/4 | chr16 | TogoVar | ||||||
CHST5_chr16_75523530_75541108 | 75531530 | G | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02970.hp1 | a0001 | a0001c0003 | a0001c0003t0031 | a0001c0003t0031g0072 | 1 | 394 | 0.0025 | 0 | c.-11 others(5): Show |
CHST5 | ENSG00000135702.15 | transcript | ENST00000336257.8 | protein_coding | 4/4 | chr16 | TogoVar | ||||||
CHST6_chr16_75467052_75500441 | 75495361 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0116 | a0001c0001t0116g0358 | 1 | 371 | 0.0027 | 0 | c.-51 others(4): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 1/3 | chr16 | TogoVar | ||||||
CHST8_chr19_33616953_33778506 | 33622277 | G | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00621.hp2 HG01106.hp1 HG01168.hp1 others(8): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0004a0001c0001t0011a0004c0005t0004 | a0001c0001t0004g0001a0001c0001t0004g0002a0001c0001t0004g0003others(8): Show | 11 | 254 | 0.0433 | 0 | c.-18 others(4): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
CHST8_chr19_33616953_33778506 | 33689192 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01167.hp2 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0082a0001c0001t0005g0084 | 2 | 254 | 0.0079 | 0 | c.-70 others(3): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/5 | chr19 | TogoVar | ||||||
CHSY1_chr15_101170727_101257048 | 101251528 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0063 | a0001c0001t0063g0374 | 1 | 422 | 0.0024 | 0 | c.-72 others(3): Show |
CHSY1 | ENSG00000131873.7 | transcript | ENST00000254190.4 | protein_coding | 1/3 | chr15 | TogoVar | ||||||
CHSY1_chr15_101170727_101257048 | 101251968 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03516.hp1 | a0002 | a0002c0020 | a0002c0020t0064 | a0002c0020t0064g0375 | 1 | 422 | 0.0024 | 0 | c.-51 others(4): Show |
CHSY1 | ENSG00000131873.7 | transcript | ENST00000254190.4 | protein_coding | 1/3 | chr15 | TogoVar | ||||||
CHSY1_chr15_101170727_101257048 | 101251983 | C | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03130.hp1 | a0001 | a0001c0009 | a0001c0009t0066 | a0001c0009t0066g0393 | 1 | 422 | 0.0024 | 0 | c.-52 others(4): Show |
CHSY1 | ENSG00000131873.7 | transcript | ENST00000254190.4 | protein_coding | 1/3 | chr15 | TogoVar | ||||||
CHSY3_chr5_129899465_130191634 | 129904697 | G | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02615.hp1 NA19043.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0240a0001c0001t0013g0241a0001c0001t0013g0242 | 3 | 276 | 0.0109 | 0 | c.-13 others(4): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 1/3 | chr5 | TogoVar | ||||||
CHTF18_chr16_783620_803074 | 788637 | G | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0097 | 1 | 428 | 0.0023 | 0 | c.-48 others(3): Show |
CHTF18 | ENSG00000127586.17 | transcript | ENST00000262315.14 | protein_coding | 1/22 | chr16 | TogoVar |