Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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	status	chr	external
C4orf17_chr4_99506021_99547303	99529881	TCAGGGAT others(5): Show TCAGGGATGACAA	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01884.hp2 HG01975.hp2 HG02258.hp1 others(15): Show HG01884.hp2 HG01975.hp2 HG02258.hp1 HG02486.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp2 HG02809.hp2 HG02922.hp1 HG02965.hp1 HG03041.hp1 HG03130.hp2 HG03453.hp1 HG03486.hp2 HG03516.hp1 NA19030.hp2 NA19240.hp2 NA20129.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0029 a0005c0006t0001g0030 a0005c0006t0001g0061 others(13): Show a0005c0006t0001g0029 a0005c0006t0001g0030 a0005c0006t0001g0061 a0005c0006t0001g0269 a0005c0006t0001g0270 a0005c0006t0001g0271 a0005c0006t0001g0272 a0005c0006t0001g0273 a0005c0006t0001g0274 a0005c0006t0001g0275 a0005c0006t0001g0276 a0005c0006t0001g0277 a0005c0006t0001g0278 a0005c0006t0001g0279 a0005c0006t0001g0280 a0005c0006t0001g0281	18	386	0.0466	-12	c.470 others(19): Show c.470_481delCAGGGATGACAA	p.Ser others(19): Show p.Ser157_Ser161delinsCys	C4orf17	ENSG00000138813.10	transcript	ENST00000326581.9	protein_coding	5/9	815/1619	470/1080	157/359		chr4	TogoVar
C5orf24_chr5_134840968_134864735	134855396	CCTATGAT others(11): Show CCTATGATGCATGGCAGAG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02015.hp2 HG02015.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0005 a0004c0005t0001g0005	1	402	0.0025	-18	c.498 others(25): Show c.498_515delTATGATGCATGGCAGAGC	p.Met others(13): Show p.Met167_Ala172del	C5orf24	ENSG00000181904.9	transcript	ENST00000394976.4	protein_coding	2/2	746/5083	498/567	166/188	INFO_REALIGN_3_PRIME	chr5	TogoVar
C6orf132_chr6_42096119_42147620	42107366	GGGTGGGG others(20): Show GGGTGGGGGTTCCAGCAGCAGGGGAGGT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00639.hp1 HG00733.hp1 HG00738.hp1 others(6): Show HG00639.hp1 HG00733.hp1 HG00738.hp1 HG01069.hp1 HG01071.hp1 HG01361.hp1 HG01516.hp1 HG01517.hp1 NA20805.hp2	a0007 a0018 a0007 a0018	a0007c0008 a0018c0019 a0007c0008 a0018c0019	a0007c0008t0005 a0018c0019t0005 a0007c0008t0005 a0018c0019t0005	a0007c0008t0005g0160 a0007c0008t0005g0175 a0007c0008t0005g0176 others(5): Show a0007c0008t0005g0160 a0007c0008t0005g0175 a0007c0008t0005g0176 a0007c0008t0005g0226 a0007c0008t0005g0227 a0007c0008t0005g0228 a0007c0008t0005g0246 a0018c0019t0005g0003	9	364	0.0247	-27	c.519 others(34): Show c.519_545delACCTCCCCTGCTGCTGGAACCCCCACC	p.Pro others(13): Show p.Pro174_Pro182del	C6orf132	ENSG00000188112.10	transcript	ENST00000341865.9	protein_coding	4/5	721/6385	519/3567	173/1188		chr6	TogoVar
C6orf15_chr6_31106223_31117575	31111507	CCCCCAGC others(59): Show CCCCCAGCTGCCTCCTGGATACCGATTAATATTCCCCCAGCTGCCTCCTG GATACCGATTAATATTT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02717.hp2 HG02717.hp2	a0013 a0013	a0013c0017 a0013c0017	a0013c0017t0002 a0013c0017t0002	a0013c0017t0002g0019 a0013c0017t0002g0019	1	437	0.0023	-66	c.786 others(73): Show c.786_851delAAATATTAATCGGTATCCAGGAGGCAGCTGGGGGAATA TTAATCGGTATCCAGGAGGCAGCTGGGG	p.Asn others(13): Show p.Asn263_Gly284del	C6orf15	ENSG00000204542.3	transcript	ENST00000259870.4	protein_coding	2/2	871/1156	786/978	262/325		chr6	TogoVar
C6orf15_chr6_31106223_31117575	31111540	CCCCCAGC others(26): Show CCCCCAGCTGCCTCCTGGATACCGATTAATATTT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01074.hp2 HG01243.hp1 HG02451.hp2 others(10): Show HG01074.hp2 HG01243.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02738.hp2 HG03195.hp2 HG03209.hp2 HG03486.hp2 HG03579.hp2 NA18522.hp1	a0009 a0009	a0009c0008 a0009c0008	a0009c0008t0001 a0009c0008t0001	a0009c0008t0001g0009 a0009c0008t0001g0009	13	437	0.0298	-33	c.786 others(40): Show c.786_818delAAATATTAATCGGTATCCAGGAGGCAGCTGGGG	p.Asn others(13): Show p.Asn263_Gly273del	C6orf15	ENSG00000204542.3	transcript	ENST00000259870.4	protein_coding	2/2	838/1156	786/978	262/325		chr6	TogoVar
CA9_chr9_35668928_35686159	35674193	CGGAGAGG others(11): Show CGGAGAGGAGGATCTACCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00408.hp2 HG00639.hp2 HG02027.hp1 others(33): Show HG00408.hp2 HG00639.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02280.hp2 HG02572.hp1 HG02818.hp1 HG02965.hp2 HG02976.hp2 HG03486.hp2 HG03491.hp1 HG03688.hp2 HG04228.hp2 HG06807.hp1 NA18942.hp1 NA18943.hp2 NA18957.hp1 NA18960.hp2 NA18972.hp2 NA18984.hp1 NA18992.hp2 NA19001.hp2 NA19003.hp2 NA19010.hp1 NA19043.hp2 NA19081.hp1 NA19085.hp2 NA21309.hp1	a0003 a0005 a0009 a0003 a0005 a0009	a0003c0004 a0005c0006 a0005c0008 others(2): Show a0003c0004 a0005c0006 a0005c0008 a0005c0015 a0009c0014	a0003c0004t0001 a0003c0004t0002 a0005c0006t0001 others(3): Show a0003c0004t0001 a0003c0004t0002 a0005c0006t0001 a0005c0008t0001 a0005c0015t0001 a0009c0014t0002	a0003c0004t0001g0011 a0003c0004t0001g0021 a0003c0004t0001g0031 others(19): Show a0003c0004t0001g0011 a0003c0004t0001g0021 a0003c0004t0001g0031 a0003c0004t0001g0032 a0003c0004t0001g0050 a0003c0004t0001g0051 a0003c0004t0001g0052 a0003c0004t0001g0053 a0003c0004t0001g0054 a0003c0004t0001g0055 a0003c0004t0001g0056 a0003c0004t0001g0057 a0003c0004t0001g0061 a0003c0004t0002g0058 a0005c0006t0001g0040 a0005c0006t0001g0048 a0005c0006t0001g0106 a0005c0006t0001g0132 a0005c0008t0001g0060 a0005c0008t0001g0062 a0005c0015t0001g0129 a0009c0014t0002g0059	36	446	0.0807	-18	c.272 others(25): Show c.272_289delGAGAGGAGGATCTACCTG	p.Gly others(11): Show p.Gly91_Pro96del	CA9	ENSG00000107159.14	transcript	ENST00000378357.9	protein_coding	1/11	304/1546	272/1380	91/459	INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1F_chrX_49200063_49238340	49209740	GCCC GCCC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18946.hp1 NA18946.hp1	a0013 a0013	a0013c0019 a0013c0019	a0013c0019t0001 a0013c0019t0001	a0013c0019t0001g0127 a0013c0019t0001g0127	1	290	0.0035	-3	c.470 others(12): Show c.4707_4709delGGG	p.Gly others(7): Show p.Gly1570del	CACNA1F	ENSG00000102001.13	transcript	ENST00000323022.10	protein_coding	41/48	4740/6006	4707/5901	1569/1966		chrX	TogoVar
CACNA1H_chr16_1148106_1226768	1202227	CATGCCGC others(5): Show CATGCCGCAGCCA	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00738.hp1 HG00738.hp1	a0064 a0064	a0064c0111 a0064c0111	a0064c0111t0031 a0064c0111t0031	a0064c0111t0031g0256 a0064c0111t0031g0256	1	338	0.0030	-12	c.177 others(21): Show c.1778_1789delATGCCGCAGCCA	p.His others(19): Show p.His593_Thr597delinsPro	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	9/35	2161/8219	1778/7062	593/2353		chr16	TogoVar
CAPNS1_chr19_36135066_36155353	36141122	GGGCGGCG others(5): Show GGGCGGCGGCGGC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02135.hp2 HG02886.hp1 HG02886.hp2 HG02135.hp2 HG02886.hp1 HG02886.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0075 a0003c0004t0001g0087 a0003c0004t0001g0119 a0003c0004t0001g0075 a0003c0004t0001g0087 a0003c0004t0001g0119	3	480	0.0063	-12	c.132 others(19): Show c.132_143delCGGCGGCGGCGG	p.Gly others(11): Show p.Gly45_Gly48del	CAPNS1	ENSG00000126247.11	transcript	ENST00000246533.8	protein_coding	2/11	239/1428	132/807	44/268	INFO_REALIGN_3_PRIME	chr19	TogoVar
CARMIL3_chr14_24047009_24074729	24061539	CCTGTGGC others(14): Show CCTGTGGCCATGCGGGTGGCCG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18955.hp2 NA18955.hp2	a0023 a0023	a0023c0049 a0023c0049	a0023c0049t0001 a0023c0049t0001	a0023c0049t0001g0034 a0023c0049t0001g0034	1	414	0.0024	-21	c.234 others(30): Show c.2348_2368delCTGTGGCCATGCGGGTGGCCG	p.Pro others(19): Show p.Pro783_Glu790delinsGln	CARMIL3	ENSG00000186648.15	transcript	ENST00000342740.6	protein_coding	27/40	2493/4589	2348/4119	783/1372		chr14	TogoVar
CASKIN1_chr16_2172180_2201605	2179036	CGCGGCGG others(5): Show CGCGGCGGCGGCG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02015.hp2 NA19068.hp2 HG02015.hp2 NA19068.hp2	a0009 a0009	a0009c0017 a0009c0017	a0009c0017t0001 a0009c0017t0008 a0009c0017t0001 a0009c0017t0008	a0009c0017t0001g0151 a0009c0017t0008g0205 a0009c0017t0001g0151 a0009c0017t0008g0205	2	350	0.0057	-12	c.405 others(21): Show c.4053_4064delCGCCGCCGCCGC	p.Ala others(15): Show p.Ala1352_Ala1355del	CASKIN1	ENSG00000167971.16	transcript	ENST00000343516.8	protein_coding	19/20	4237/5839	4053/4296	1351/1431		chr16	TogoVar
CASZ1_chr1_10631604_10801646	10639083	CTCGTCG CTCGTCG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp2 HG00597.hp1 HG01243.hp2 others(11): Show HG00099.hp2 HG00597.hp1 HG01243.hp2 HG02071.hp1 HG02155.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp1 HG02723.hp2 NA18906.hp2 NA19030.hp1 NA19240.hp2 NA20905.hp2 NA21309.hp2	a0003 a0007 a0009 others(1): Show a0003 a0007 a0009 a0012	a0003c0007 a0003c0010 a0003c0024 others(5): Show a0003c0007 a0003c0010 a0003c0024 a0003c0028 a0003c0035 a0007c0038 a0009c0036 a0012c0041	a0003c0007t0009 a0003c0007t0016 a0003c0010t0021 others(7): Show a0003c0007t0009 a0003c0007t0016 a0003c0010t0021 a0003c0010t0036 a0003c0024t0040 a0003c0028t0037 a0003c0035t0033 a0007c0038t0009 a0009c0036t0002 a0012c0041t0009	a0003c0007t0009g0127 a0003c0007t0009g0176 a0003c0007t0016g0048 others(11): Show a0003c0007t0009g0127 a0003c0007t0009g0176 a0003c0007t0016g0048 a0003c0007t0016g0064 a0003c0007t0016g0067 a0003c0010t0021g0133 a0003c0010t0021g0231 a0003c0010t0036g0208 a0003c0024t0040g0166 a0003c0028t0037g0068 a0003c0035t0033g0128 a0007c0038t0009g0186 a0009c0036t0002g0113 a0012c0041t0009g0146	14	236	0.0593	-6	c.513 others(15): Show c.5133_5138delCGACGA	p.Asp others(15): Show p.Asp1711_Asp1712del	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	21/21	5454/7934	5133/5280	1711/1759		chr1	TogoVar
CASZ1_chr1_10631604_10801646	10639098	CTCGTCGT others(8): Show CTCGTCGTCGTCCTCG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02280.hp2 HG02280.hp2	a0010 a0010	a0010c0032 a0010c0032	a0010c0032t0034 a0010c0032t0034	a0010c0032t0034g0157 a0010c0032t0034g0157	1	236	0.0042	-15	c.510 others(24): Show c.5109_5123delCGAGGACGACGACGA	p.Asp others(15): Show p.Asp1703_Asp1707del	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	21/21	5439/7934	5109/5280	1703/1759		chr1	TogoVar
CAVIN3_chr11_6313946_6325501	6320315	TGCCAGGC others(14): Show TGCCAGGCCTCCCTGCCTTCGA	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00423.hp2 HG01993.hp2 HG00423.hp2 HG01993.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0001 a0005c0011t0001	a0005c0011t0001g0014 a0005c0011t0001g0014	2	426	0.0047	-21	c.141 others(28): Show c.141_161delTCGAAGGCAGGGAGGCCTGGC	p.Arg others(11): Show p.Arg48_Ala54del	CAVIN3	ENSG00000170955.10	transcript	ENST00000303927.4	protein_coding	1/2	186/1028	141/786	47/261		chr11	TogoVar
CC2D1B_chr1_52345597_52371205	52361540	TTCC TTCC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18969.hp2 NA19005.hp2 NA19064.hp1 NA18969.hp2 NA19005.hp2 NA19064.hp1	a0006 a0006	a0006c0008 a0006c0010 a0006c0008 a0006c0010	a0006c0008t0009 a0006c0008t0029 a0006c0010t0009 a0006c0008t0009 a0006c0008t0029 a0006c0010t0009	a0006c0008t0009g0117 a0006c0008t0029g0116 a0006c0010t0009g0075 a0006c0008t0009g0117 a0006c0008t0029g0116 a0006c0010t0009g0075	3	322	0.0093	-3	c.288 others(10): Show c.288_290delGGA	p.Glu others(5): Show p.Glu97del	CC2D1B	ENSG00000154222.15	transcript	ENST00000284376.8	protein_coding	4/25	441/5338	288/2559	96/852		chr1	TogoVar
CCDC136_chr7_128786968_128827130	128794376	GGAGGAA GGAGGAA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18950.hp1 NA18955.hp2 NA18957.hp2 others(1): Show NA18950.hp1 NA18955.hp2 NA18957.hp2 NA19089.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0001 a0004c0006t0001g0004 a0004c0006t0001g0001 a0004c0006t0001g0004	4	380	0.0105	-6	c.63_ others(11): Show c.63_68delAGAGGA	p.Glu others(11): Show p.Glu22_Glu23del	CCDC136	ENSG00000128596.17	transcript	ENST00000297788.9	protein_coding	2/18	507/4246	63/3465	21/1154	INFO_REALIGN_3_PRIME	chr7	TogoVar
CCDC157_chr22_30352007_30383673	30372150	AGCAGGTG others(14): Show AGCAGGTGCAGCAGTTGGAGGC	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02071.hp2 HG02071.hp2	a0013 a0013	a0013c0026 a0013c0026	a0013c0026t0003 a0013c0026t0003	a0013c0026t0003g0002 a0013c0026t0003g0002	1	440	0.0023	-21	c.121 others(30): Show c.1211_1231delAGTTGGAGGCGCAGGTGCAGC	p.Gln others(13): Show p.Gln404_Gln410del	CCDC157	ENSG00000187860.11	transcript	ENST00000338306.8	protein_coding	7/12	1502/4478	1211/2259	404/752	INFO_REALIGN_3_PRIME	chr22	TogoVar
CCDC157_chr22_30352007_30383673	30376554	CCTCGGCA others(17): Show CCTCGGCAGCCCTGCACATCCCCAT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02809.hp2 HG02809.hp2	a0017 a0017	a0017c0022 a0017c0022	a0017c0022t0002 a0017c0022t0002	a0017c0022t0002g0081 a0017c0022t0002g0081	1	440	0.0023	-24	c.208 others(33): Show c.2084_2107delCATCCCCATCTCGGCAGCCCTGCA	p.Thr others(13): Show p.Thr695_Cys702del	CCDC157	ENSG00000187860.11	transcript	ENST00000338306.8	protein_coding	12/12	2375/4478	2084/2259	695/752	INFO_REALIGN_3_PRIME	chr22	TogoVar
CCDC177_chr14_69564799_69579871	69573086	CGCG CGCG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp2 HG00673.hp2 HG00735.hp1 others(33): Show HG00099.hp2 HG00673.hp2 HG00735.hp1 HG01069.hp2 HG01261.hp2 HG02015.hp2 HG02080.hp2 HG02135.hp1 HG02155.hp1 HG02165.hp1 HG02735.hp1 HG03491.hp1 HG03688.hp1 HG03834.hp1 HG03927.hp1 HG04199.hp2 HG04204.hp2 NA18939.hp2 NA18941.hp2 NA18944.hp1 NA18956.hp2 NA18960.hp1 NA18965.hp1 NA18966.hp1 NA18970.hp2 NA18985.hp2 NA18991.hp2 NA18993.hp2 NA19002.hp1 NA19003.hp1 NA19009.hp1 NA19062.hp1 NA19064.hp1 NA19079.hp2 NA20805.hp1 NA20905.hp1	a0003 a0010 a0011 a0003 a0010 a0011	a0003c0003 a0010c0020 a0011c0019 a0003c0003 a0010c0020 a0011c0019	a0003c0003t0003 a0003c0003t0009 a0010c0020t0003 others(1): Show a0003c0003t0003 a0003c0003t0009 a0010c0020t0003 a0011c0019t0009	a0003c0003t0003g0002 a0003c0003t0009g0014 a0010c0020t0003g0038 others(1): Show a0003c0003t0003g0002 a0003c0003t0009g0014 a0010c0020t0003g0038 a0011c0019t0009g0037	36	338	0.1065	-3	c.534 others(10): Show c.534_536delCGC	p.Ala others(6): Show p.Ala179del	CCDC177	ENSG00000267909.3	transcript	ENST00000599174.3	protein_coding	2/2	894/4182	534/2124	178/707		chr14	TogoVar
CCDC177_chr14_69564799_69579871	69573086	CGCGGCG CGCGGCG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(273): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp1 HG01952.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18941.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18956.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19003.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19059.hp1 NA19059.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(6): Show a0001 a0002 a0005 a0006 a0007 a0008 a0009 a0012 a0013	a0001c0001 a0001c0011 a0001c0012 others(13): Show a0001c0001 a0001c0011 a0001c0012 a0001c0015 a0001c0016 a0002c0002 a0002c0005 a0002c0010 a0002c0018 a0005c0006 a0006c0008 a0007c0009 a0008c0014 a0009c0013 a0012c0017 a0013c0021	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(22): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0013 a0001c0011t0001 a0001c0012t0001 a0001c0015t0001 a0001c0016t0014 a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 a0002c0002t0008 a0002c0002t0010 a0002c0002t0015 a0002c0005t0002 a0002c0010t0002 a0002c0018t0016 a0005c0006t0001 a0006c0008t0006 a0007c0009t0001 a0008c0014t0007 a0009c0013t0012 a0012c0017t0006 a0013c0021t0001	a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0016 others(29): Show a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0022 a0001c0001t0005g0005 a0001c0001t0005g0024 a0001c0001t0007g0006 a0001c0001t0011g0019 a0001c0001t0013g0030 a0001c0011t0001g0027 a0001c0012t0001g0028 a0001c0015t0001g0032 a0001c0016t0014g0033 a0002c0002t0001g0034 a0002c0002t0002g0008 a0002c0002t0002g0017 a0002c0002t0002g0018 a0002c0002t0006g0007 a0002c0002t0006g0023 a0002c0002t0008g0009 a0002c0002t0010g0012 a0002c0002t0015g0021 a0002c0005t0002g0003 a0002c0010t0002g0026 a0002c0018t0016g0036 a0005c0006t0001g0010 a0006c0008t0006g0020 a0007c0009t0001g0025 a0008c0014t0007g0031 a0009c0013t0012g0029 a0012c0017t0006g0035 a0013c0021t0001g0039	276	338	0.8166	-6	c.531 others(13): Show c.531_536delCGCCGC	p.Ala others(13): Show p.Ala178_Ala179del	CCDC177	ENSG00000267909.3	transcript	ENST00000599174.3	protein_coding	2/2	894/4182	531/2124	177/707		chr14	TogoVar
CCDC34_chr11_27333512_27368215	27362901	TTCATCCA others(11): Show TTCATCCACGTCTTCCTCA	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01109.hp2 HG02055.hp2 HG02109.hp1 others(9): Show HG01109.hp2 HG02055.hp2 HG02109.hp1 HG02451.hp1 HG02615.hp2 HG03130.hp1 HG03139.hp1 HG03486.hp2 HG03540.hp1 NA18906.hp1 NA20300.hp1 NA21309.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0008 a0003c0003t0001g0020 a0003c0003t0001g0056 others(6): Show a0003c0003t0001g0008 a0003c0003t0001g0020 a0003c0003t0001g0056 a0003c0003t0001g0057 a0003c0003t0001g0058 a0003c0003t0001g0059 a0003c0003t0001g0060 a0003c0003t0001g0061 a0003c0003t0001g0062	12	358	0.0335	-18	c.276 others(25): Show c.276_293delTGAGGAAGACGTGGATGA	p.Asp others(11): Show p.Asp92_Asp97del	CCDC34	ENSG00000109881.17	transcript	ENST00000328697.11	protein_coding	1/6	314/1452	276/1122	92/373		chr11	TogoVar
CCDC57_chr17_82096470_82217842	82163305	TGCTTGAC others(20): Show TGCTTGACCAGCTTGGACAGACCCTCCG	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02809.hp1 HG02809.hp1	a0024 a0024	a0024c0018 a0024c0018	a0024c0018t0003 a0024c0018t0003	a0024c0018t0003g0009 a0024c0018t0003g0009	1	252	0.0040	-27	c.190 others(36): Show c.1908_1934delCGGAGGGTCTGTCCAAGCTGGTCAAGC	p.Gly others(13): Show p.Gly637_Ala645del	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding	13/19	2000/3362	1908/3084	636/1027		chr17	TogoVar
CCDC61_chr19_45990467_46023616	46016106	TCGTCCCG others(11): Show TCGTCCCGGGAGCGCTCCG	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02109.hp1 HG02109.hp2 HG02615.hp2 others(6): Show HG02109.hp1 HG02109.hp2 HG02615.hp2 HG02630.hp2 HG02723.hp2 HG02922.hp1 HG03098.hp2 NA19030.hp1 NA21309.hp2	a0004 a0005 a0013 a0004 a0005 a0013	a0004c0007 a0005c0008 a0013c0010 a0004c0007 a0005c0008 a0013c0010	a0004c0007t0001 a0005c0008t0001 a0013c0010t0001 a0004c0007t0001 a0005c0008t0001 a0013c0010t0001	a0004c0007t0001g0072 a0004c0007t0001g0163 a0004c0007t0001g0171 others(6): Show a0004c0007t0001g0072 a0004c0007t0001g0163 a0004c0007t0001g0171 a0004c0007t0001g0306 a0005c0008t0001g0234 a0005c0008t0001g0305 a0005c0008t0001g0325 a0005c0008t0001g0339 a0013c0010t0001g0182	9	428	0.0210	-18	c.903 others(25): Show c.903_920delCCGGGAGCGCTCCGCGTC	p.Arg others(13): Show p.Arg302_Ser307del	CCDC61	ENSG00000104983.8	transcript	ENST00000595358.5	protein_coding	8/14	952/1817	903/1539	301/512	INFO_REALIGN_3_PRIME	chr19	TogoVar
CCDC9_chr19_47251525_47276953	47271408	TGAG TGAG	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01081.hp1 HG01192.hp1 HG01361.hp2 others(36): Show HG01081.hp1 HG01192.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01928.hp2 HG01934.hp1 HG01981.hp1 HG01993.hp2 HG02027.hp1 HG02056.hp1 HG02074.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02273.hp1 HG02293.hp2 HG02486.hp2 HG02602.hp1 HG02683.hp2 HG02717.hp2 HG03017.hp1 HG03239.hp2 HG03486.hp1 HG03710.hp1 HG03710.hp2 HG04115.hp2 HG04204.hp2 HG06807.hp2 NA18948.hp2 NA18983.hp1 NA18995.hp2 NA18999.hp1 NA19006.hp1 NA19056.hp2 NA19057.hp2 NA19074.hp2 NA19083.hp1 NA20805.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0003 a0003c0004t0004 others(16): Show a0003c0004t0002 a0003c0004t0003 a0003c0004t0004 a0003c0004t0005 a0003c0004t0006 a0003c0004t0007 a0003c0004t0008 a0003c0004t0009 a0003c0004t0010 a0003c0004t0012 a0003c0004t0015 a0003c0004t0016 a0003c0004t0023 a0003c0004t0030 a0003c0004t0054 a0003c0004t0055 a0003c0004t0060 a0003c0004t0062 a0003c0004t0071	a0003c0004t0002g0008 a0003c0004t0002g0012 a0003c0004t0002g0059 others(31): Show a0003c0004t0002g0008 a0003c0004t0002g0012 a0003c0004t0002g0059 a0003c0004t0003g0008 a0003c0004t0004g0060 a0003c0004t0005g0008 a0003c0004t0005g0012 a0003c0004t0005g0058 a0003c0004t0006g0011 a0003c0004t0006g0030 a0003c0004t0006g0050 a0003c0004t0006g0055 a0003c0004t0007g0011 a0003c0004t0007g0052 a0003c0004t0008g0006 a0003c0004t0008g0049 a0003c0004t0008g0051 a0003c0004t0008g0057 a0003c0004t0009g0006 a0003c0004t0009g0012 a0003c0004t0010g0006 a0003c0004t0010g0012 a0003c0004t0012g0030 a0003c0004t0015g0006 a0003c0004t0015g0011 a0003c0004t0015g0062 a0003c0004t0016g0006 a0003c0004t0023g0122 a0003c0004t0030g0008 a0003c0004t0054g0006 a0003c0004t0055g0008 a0003c0004t0060g0061 a0003c0004t0062g0121 a0003c0004t0071g0056	39	402	0.0970	-3	c.133 others(12): Show c.1332_1334delGGA	p.Glu others(6): Show p.Glu445del	CCDC9	ENSG00000105321.14	transcript	ENST00000221922.11	protein_coding	12/12	1488/2027	1332/1596	444/531	INFO_REALIGN_3_PRIME	chr19	TogoVar
CCER1_chr12_90947215_90960176	90953783	TTCTTCCT others(14): Show TTCTTCCTCCTCATCTTCGACC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00423.hp2 HG00639.hp1 HG01069.hp2 others(8): Show HG00423.hp2 HG00639.hp1 HG01069.hp2 NA18747.hp1 NA18943.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18963.hp2 NA19057.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0000 a0003c0004t0001g0000	11	406	0.0271	-21	c.939 others(28): Show c.939_959delGGTCGAAGATGAGGAGGAAGA	p.Val others(13): Show p.Val314_Glu320del	CCER1	ENSG00000197651.4	transcript	ENST00000358859.3	protein_coding	1/1	1393/2962	939/1221	313/406		chr12	TogoVar
CCM2L_chr20_32005438_32037180	32019232	AGGCGGC AGGCGGC	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00738.hp2 HG01167.hp2 HG01169.hp1 HG00738.hp2 HG01167.hp2 HG01169.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0004 a0004c0007t0004	a0004c0007t0004g0025 a0004c0007t0004g0065 a0004c0007t0004g0025 a0004c0007t0004g0065	3	300	0.0100	-6	c.773 others(13): Show c.773_778delGCGGCG	p.Gly others(13): Show p.Gly258_Gly259del	CCM2L	ENSG00000101331.17	transcript	ENST00000452892.3	protein_coding	5/10	790/2599	773/1716	258/571	INFO_REALIGN_3_PRIME	chr20	TogoVar
CCN5_chr20_44710369_44732811	44727189	TGGCCACC others(29): Show TGGCCACCCGGGTGTCCAACCAGAACCGCTTCTGCCG	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG04184.hp2 HG04184.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0002 a0007c0010t0002	a0007c0010t0002g0002 a0007c0010t0002g0002	1	446	0.0022	-36	c.636 others(43): Show c.636_671delGGCCACCCGGGTGTCCAACCAGAACCGCTTCTGCCG	p.Met others(19): Show p.Met212_Arg224delinsIle	CCN5	ENSG00000064205.11	transcript	ENST00000190983.5	protein_coding	4/4	658/1279	636/753	212/250		chr20	TogoVar
CCSAP_chr1_229316015_229348047	229342125	TCGGCCTC others(8): Show TCGGCCTCCGCGTCCC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0042 a0002c0004t0001g0042	1	436	0.0023	-15	c.326 others(22): Show c.326_340delGGGACGCGGAGGCCG	p.Gly others(13): Show p.Gly109_Ala113del	CCSAP	ENSG00000154429.11	transcript	ENST00000284617.7	protein_coding	2/4	524/5217	326/813	109/270		chr1	TogoVar
CD209_chr19_7734993_7752534	7745700	TGCTTAGA others(200): Show TGCTTAGATTTCTCTGGAAGCTCACCCACTGCAGCCTTCAGCCGAGTCAG CTCCTGGTAGATCTCCTGCATCTTAGATTTCTCTGGAAGCTCACCCACTG CAGCCTTCAGCCAGGTCAGCTCCTGGTAGATCTCCTGCAGCTTAGATTTC TCTGGAAGCTCACCCACTGCAGCCTTCAGCCGGGTCAGCTCCTGGTAGAT CTCCTGCA	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18956.hp2 NA18956.hp2	a0016 a0016	a0016c0009 a0016c0009	a0016c0009t0001 a0016c0009t0001	a0016c0009t0001g0042 a0016c0009t0001g0042	1	454	0.0022	-207	c.359 others(7): Show c.359_565del	p.Leu others(13): Show p.Leu120_Lys188del	CD209	ENSG00000090659.18	transcript	ENST00000315599.12	protein_coding	4/7	588/4284	359/1215	120/404		chr19	TogoVar
CD248_chr11_66309494_66322044	66315699	TGAG TGAG	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18970.hp1 NA18983.hp1 NA19009.hp2 others(5): Show NA18970.hp1 NA18983.hp1 NA19009.hp2 NA19064.hp1 NA19068.hp1 NA19074.hp2 NA19077.hp1 NA19087.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0000 a0003c0004t0001g0000	8	412	0.0194	-3	c.132 others(12): Show c.1326_1328delCTC	p.Ser others(6): Show p.Ser443del	CD248	ENSG00000174807.4	transcript	ENST00000311330.4	protein_coding	1/1	1345/2551	1326/2274	442/757		chr11	TogoVar
CD7_chr17_82309873_82322608	82316265	GCAGGGAG others(20): Show GCAGGGAGGGCAGAGGCTGCTGGCGGGT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01081.hp2 HG01256.hp2 HG01257.hp1 others(3): Show HG01081.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01433.hp1 HG02148.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0005 a0002c0002t0001g0035 a0002c0002t0001g0005 a0002c0002t0001g0035	6	416	0.0144	-27	c.515 others(34): Show c.515_541delACCCGCCAGCAGCCTCTGCCCTCCCTG	p.Asp others(13): Show p.Asp172_Pro180del	CD7	ENSG00000173762.8	transcript	ENST00000312648.8	protein_coding	3/4	654/1284	515/723	172/240		chr17	TogoVar
CDC42EP1_chr22_37555480_37574405	37568401	CCAGCGCC others(14): Show CCAGCGCCTGCTGCAAACCCCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(151): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG01934.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02040.hp2 HG02074.hp1 HG02080.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02258.hp2 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02683.hp1 HG02683.hp2 HG02735.hp2 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG03225.hp1 HG03471.hp1 HG03490.hp1 HG03492.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18612.hp1 NA18747.hp2 NA18939.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18945.hp1 NA18947.hp2 NA18948.hp2 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp2 NA18973.hp1 NA18975.hp2 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18985.hp2 NA18986.hp1 NA18992.hp2 NA18993.hp2 NA18994.hp2 NA18995.hp2 NA19003.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19057.hp1 NA19062.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19089.hp1 NA19090.hp2 NA19091.hp2 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0002 a0008 a0009 a0002 a0008 a0009	a0002c0002 a0002c0016 a0002c0024 others(2): Show a0002c0002 a0002c0016 a0002c0024 a0008c0020 a0009c0011	a0002c0002t0001 a0002c0002t0003 a0002c0002t0012 others(4): Show a0002c0002t0001 a0002c0002t0003 a0002c0002t0012 a0002c0016t0001 a0002c0024t0001 a0008c0020t0001 a0009c0011t0001	a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0005 others(48): Show a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0019 a0002c0002t0001g0022 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0041 a0002c0002t0001g0047 a0002c0002t0001g0055 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0082 a0002c0002t0001g0086 a0002c0002t0001g0090 a0002c0002t0001g0097 a0002c0002t0001g0105 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0121 a0002c0002t0001g0124 a0002c0002t0001g0129 a0002c0002t0001g0136 a0002c0002t0001g0147 a0002c0002t0001g0151 a0002c0002t0001g0165 a0002c0002t0001g0168 a0002c0002t0001g0174 a0002c0002t0001g0184 a0002c0002t0001g0186 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0003g0001 a0002c0002t0003g0004 a0002c0002t0012g0027 a0002c0016t0001g0015 a0002c0024t0001g0001 a0008c0020t0001g0148 a0009c0011t0001g0111	154	448	0.3438	-21	c.762 others(28): Show c.762_782delGCCTGCTGCAAACCCCTCAGC	p.Pro others(13): Show p.Pro255_Ala261del	CDC42EP1	ENSG00000128283.7	transcript	ENST00000249014.5	protein_coding	3/3	1149/2148	762/1176	254/391	INFO_REALIGN_3_PRIME	chr22	TogoVar
CDC42EP1_chr22_37555480_37574405	37568406	GCCTGCTG others(14): Show GCCTGCTGCAAACCCCTCAGCA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18975.hp1 NA19011.hp1 NA19082.hp2 NA18975.hp1 NA19011.hp1 NA19082.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0004 a0002c0008t0001g0004	3	448	0.0067	-21	c.768 others(28): Show c.768_788delTGCAAACCCCTCAGCACCTGC	p.Ala others(13): Show p.Ala257_Ala263del	CDC42EP1	ENSG00000128283.7	transcript	ENST00000249014.5	protein_coding	3/3	1155/2148	768/1176	256/391	INFO_REALIGN_3_PRIME	chr22	TogoVar
CDCA8_chr1_37687516_37714719	37705517	CTTGCTGA others(8): Show CTTGCTGACAGCAAAG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0051 a0002c0003t0006g0051	1	412	0.0024	-15	c.662 others(22): Show c.662_676delTTGCTGACAGCAAAG	p.Leu others(19): Show p.Leu221_Glu226delinsGln	CDCA8	ENSG00000134690.11	transcript	ENST00000373055.6	protein_coding	8/10	837/2371	662/843	221/280		chr1	TogoVar
CDK11A_chr1_1697379_1729357	1708855	TTCCTCC TTCCTCC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01099.hp2 HG02257.hp2 HG02630.hp2 others(4): Show HG01099.hp2 HG02257.hp2 HG02630.hp2 HG02895.hp2 NA19043.hp1 NA19240.hp1 NA19240.hp2	a0005 a0023 a0005 a0023	a0005c0005 a0005c0020 a0023c0019 a0005c0005 a0005c0020 a0023c0019	a0005c0005t0001 a0005c0020t0002 a0023c0019t0001 a0005c0005t0001 a0005c0020t0002 a0023c0019t0001	a0005c0005t0001g0020 a0005c0005t0001g0146 a0005c0005t0001g0147 others(2): Show a0005c0005t0001g0020 a0005c0005t0001g0146 a0005c0005t0001g0147 a0005c0020t0002g0151 a0023c0019t0001g0148	7	372	0.0188	-6	c.936 others(13): Show c.936_941delGGAGGA	p.Glu others(13): Show p.Glu313_Glu314del	CDK11A	ENSG00000008128.23	transcript	ENST00000404249.8	protein_coding	9/20	1054/2984	936/2343	312/780		chr1	TogoVar
CDK11A_chr1_1697379_1729357	1708855	TTCCTCCT others(2): Show TTCCTCCTCC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00140.hp2 HG00423.hp1 HG00597.hp1 others(80): Show HG00140.hp2 HG00423.hp1 HG00597.hp1 HG00609.hp2 HG00642.hp1 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01070.hp1 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp2 HG01256.hp2 HG01258.hp1 HG01358.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01934.hp2 HG01943.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02080.hp1 HG02129.hp1 HG02148.hp2 HG02155.hp1 HG02257.hp1 HG02258.hp1 HG02293.hp2 HG02602.hp1 HG02683.hp2 HG02698.hp1 HG02735.hp1 HG03491.hp1 HG03491.hp2 HG03654.hp1 HG03688.hp2 HG03704.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG06807.hp2 NA18747.hp2 NA18906.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18944.hp1 NA18946.hp2 NA18951.hp2 NA18955.hp2 NA18960.hp1 NA18966.hp1 NA18973.hp1 NA18979.hp1 NA18980.hp2 NA18984.hp2 NA18994.hp1 NA18995.hp2 NA19002.hp2 NA19003.hp2 NA19004.hp2 NA19005.hp2 NA19007.hp2 NA19066.hp1 NA19074.hp1 NA19075.hp2 NA19077.hp2 NA19088.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0002 a0009 a0018 others(2): Show a0002 a0009 a0018 a0019 a0027	a0002c0002 a0002c0028 a0002c0029 others(4): Show a0002c0002 a0002c0028 a0002c0029 a0009c0009 a0018c0014 a0019c0010 a0027c0027	a0002c0002t0001 a0002c0002t0006 a0002c0028t0001 others(6): Show a0002c0002t0001 a0002c0002t0006 a0002c0028t0001 a0002c0029t0010 a0009c0009t0001 a0009c0009t0002 a0018c0014t0001 a0019c0010t0006 a0027c0027t0001	a0002c0002t0001g0002 a0002c0002t0001g0005 a0002c0002t0001g0008 others(54): Show a0002c0002t0001g0002 a0002c0002t0001g0005 a0002c0002t0001g0008 a0002c0002t0001g0011 a0002c0002t0001g0021 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0002t0001g0217 a0002c0002t0001g0218 a0002c0002t0001g0219 a0002c0002t0001g0220 a0002c0002t0001g0221 a0002c0002t0001g0223 a0002c0002t0001g0226 a0002c0002t0001g0227 a0002c0002t0001g0228 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0001g0234 a0002c0002t0001g0235 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0001g0242 a0002c0002t0001g0243 a0002c0002t0001g0244 a0002c0002t0001g0245 a0002c0002t0001g0246 a0002c0002t0001g0247 a0002c0002t0001g0248 a0002c0002t0001g0249 a0002c0002t0001g0250 a0002c0002t0001g0251 a0002c0002t0001g0252 a0002c0002t0001g0253 a0002c0002t0001g0254 a0002c0002t0001g0255 a0002c0002t0001g0256 a0002c0002t0001g0257 a0002c0002t0001g0258 a0002c0002t0006g0225 a0002c0028t0001g0259 a0002c0029t0010g0224 a0009c0009t0001g0053 a0009c0009t0002g0051 a0009c0009t0002g0052 a0018c0014t0001g0236 a0018c0014t0001g0237 a0019c0010t0006g0049 a0027c0027t0001g0222	83	372	0.2231	-9	c.933 others(16): Show c.933_941delGGAGGAGGA	p.Glu others(13): Show p.Glu312_Glu314del	CDK11A	ENSG00000008128.23	transcript	ENST00000404249.8	protein_coding	9/20	1054/2984	933/2343	311/780		chr1	TogoVar
CDKN1C_chr11_2878218_2890775	2884860	GGGGGCC GGGGGCC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01069.hp2 HG01071.hp1 HG01943.hp1 others(1): Show HG01069.hp2 HG01071.hp1 HG01943.hp1 HG01981.hp2	a0003 a0012 a0003 a0012	a0003c0006 a0012c0019 a0003c0006 a0012c0019	a0003c0006t0001 a0012c0019t0001 a0003c0006t0001 a0012c0019t0001	a0003c0006t0001g0012 a0012c0019t0001g0039 a0003c0006t0001g0012 a0012c0019t0001g0039	4	417	0.0096	-6	c.591 others(13): Show c.591_596delGGCCCC	p.Ala others(13): Show p.Ala198_Pro199del	CDKN1C	ENSG00000129757.15	transcript	ENST00000440480.8	protein_coding	2/4	748/1773	591/918	197/305		chr11	TogoVar
CDKN1C_chr11_2878218_2890775	2884860	GGGGGCCG others(5): Show GGGGGCCGGGGCC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01081.hp2 HG01358.hp1 HG02148.hp2 others(1): Show HG01081.hp2 HG01358.hp1 HG02148.hp2 HG04184.hp1	a0004 a0005 a0004 a0005	a0004c0012 a0005c0007 a0004c0012 a0005c0007	a0004c0012t0001 a0005c0007t0001 a0004c0012t0001 a0005c0007t0001	a0004c0012t0001g0027 a0005c0007t0001g0013 a0004c0012t0001g0027 a0005c0007t0001g0013	4	417	0.0096	-12	c.585 others(19): Show c.585_596delGGCCCCGGCCCC	p.Ala others(13): Show p.Ala196_Pro199del	CDKN1C	ENSG00000129757.15	transcript	ENST00000440480.8	protein_coding	2/4	748/1773	585/918	195/305		chr11	TogoVar
CDKN1C_chr11_2878218_2890775	2884872	CGGGGCCG others(11): Show CGGGGCCGGGGCCGGGGCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18985.hp1 NA18985.hp1	a0009 a0009	a0009c0015 a0009c0015	a0009c0015t0001 a0009c0015t0001	a0009c0015t0001g0035 a0009c0015t0001g0035	1	417	0.0024	-18	c.567 others(25): Show c.567_584delAGCCCCGGCCCCGGCCCC	p.Ala others(13): Show p.Ala190_Pro195del	CDKN1C	ENSG00000129757.15	transcript	ENST00000440480.8	protein_coding	2/4	736/1773	567/918	189/305		chr11	TogoVar
CDKN1C_chr11_2878218_2890775	2884878	CGGGGCCG others(5): Show CGGGGCCGGGGCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02056.hp2 NA19000.hp1 HG02056.hp2 NA19000.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0017 a0004c0008t0001g0017	2	417	0.0048	-12	c.567 others(19): Show c.567_578delAGCCCCGGCCCC	p.Ala others(13): Show p.Ala190_Pro193del	CDKN1C	ENSG00000129757.15	transcript	ENST00000440480.8	protein_coding	2/4	730/1773	567/918	189/305		chr11	TogoVar
CDKN1C_chr11_2878218_2890775	2884908	TGGAGCCG others(17): Show TGGAGCCGGGGCCGGAGCCGGAGCC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02965.hp1 HG02965.hp1	a0013 a0013	a0013c0017 a0013c0017	a0013c0017t0001 a0013c0017t0001	a0013c0017t0001g0037 a0013c0017t0001g0037	1	417	0.0024	-24	c.525 others(31): Show c.525_548delGGCTCCGGCTCCGGCCCCGGCTCC	p.Ala others(13): Show p.Ala176_Pro183del	CDKN1C	ENSG00000129757.15	transcript	ENST00000440480.8	protein_coding	2/4	700/1773	525/918	175/305		chr11	TogoVar
CDKN1C_chr11_2878218_2890775	2884966	ACCGCGAC others(5): Show ACCGCGACCGGAG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00280.hp2 HG00323.hp2 HG00423.hp1 others(51): Show HG00280.hp2 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp2 HG00609.hp1 HG00639.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01256.hp2 HG01358.hp1 HG01433.hp1 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG01981.hp2 HG01993.hp1 HG02015.hp2 HG02080.hp2 HG02132.hp1 HG02135.hp2 HG02293.hp2 HG02300.hp2 HG02486.hp1 HG02683.hp1 HG02965.hp1 HG03239.hp1 HG03491.hp1 HG04184.hp1 NA18947.hp2 NA18952.hp2 NA18962.hp1 NA18966.hp1 NA18969.hp2 NA18988.hp2 NA19055.hp1 NA19060.hp1 NA19066.hp2 NA19077.hp2 NA19090.hp1 NA19091.hp1	a0002 a0005 a0011 others(2): Show a0002 a0005 a0011 a0012 a0013	a0002c0003 a0002c0009 a0005c0007 others(3): Show a0002c0003 a0002c0009 a0005c0007 a0011c0018 a0012c0019 a0013c0017	a0002c0003t0001 a0002c0003t0002 a0002c0003t0004 others(5): Show a0002c0003t0001 a0002c0003t0002 a0002c0003t0004 a0002c0009t0001 a0005c0007t0001 a0011c0018t0001 a0012c0019t0001 a0013c0017t0001	a0002c0003t0001g0004 a0002c0003t0001g0005 a0002c0003t0001g0023 others(11): Show a0002c0003t0001g0004 a0002c0003t0001g0005 a0002c0003t0001g0023 a0002c0003t0001g0040 a0002c0003t0001g0041 a0002c0003t0001g0043 a0002c0003t0002g0014 a0002c0003t0002g0020 a0002c0003t0004g0042 a0002c0009t0001g0019 a0005c0007t0001g0013 a0011c0018t0001g0038 a0012c0019t0001g0039 a0013c0017t0001g0037	54	417	0.1295	-12	c.479 others(19): Show c.479_490delCTCCGGTCGCGG	p.Ala others(13): Show p.Ala160_Ala163del	CDKN1C	ENSG00000129757.15	transcript	ENST00000440480.8	protein_coding	2/4	642/1773	479/918	160/305		chr11	TogoVar
CDKN2AIP_chr4_183439636_183454064	183446405	TCTG TCTG	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(141): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01123.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01517.hp1 HG01517.hp2 HG01934.hp2 HG01993.hp2 HG02040.hp1 HG02080.hp1 HG02109.hp2 HG02145.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02523.hp1 HG02559.hp2 HG02602.hp2 HG02615.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02896.hp2 HG02897.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03130.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03654.hp2 HG03669.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG04115.hp1 NA18612.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18946.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18959.hp1 NA18961.hp2 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18974.hp1 NA18976.hp1 NA18978.hp2 NA18980.hp1 NA18983.hp1 NA18983.hp2 NA18987.hp1 NA18988.hp2 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18992.hp2 NA18999.hp2 NA19002.hp2 NA19005.hp2 NA19007.hp2 NA19010.hp2 NA19012.hp1 NA19054.hp1 NA19057.hp1 NA19060.hp1 NA19067.hp2 NA19072.hp1 NA19072.hp2 NA19075.hp1 NA19076.hp1 NA19077.hp2 NA19078.hp2 NA19079.hp2 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0008 a0002 a0008	a0002c0002 a0002c0012 a0008c0007 a0002c0002 a0002c0012 a0008c0007	a0002c0002t0001 a0002c0002t0003 a0002c0002t0015 others(2): Show a0002c0002t0001 a0002c0002t0003 a0002c0002t0015 a0002c0012t0003 a0008c0007t0003	a0002c0002t0001g0001 a0002c0002t0001g0006 a0002c0002t0003g0001 others(3): Show a0002c0002t0001g0001 a0002c0002t0001g0006 a0002c0002t0003g0001 a0002c0002t0015g0001 a0002c0012t0003g0001 a0008c0007t0003g0001	144	470	0.3064	-3	c.723 others(10): Show c.723_725delTGC	p.Ala others(6): Show p.Ala242del	CDKN2AIP	ENSG00000168564.6	transcript	ENST00000504169.2	protein_coding	3/3	885/3542	723/1743	241/580	INFO_REALIGN_3_PRIME	chr4	TogoVar
CDRT4_chr17_15431015_15472621	15440207	CCTT CCTT	C C	disruptive_inframe_deletion others(1): Show disruptive_inframe_deletion splice_region_variant	MODERATE	HG00741.hp1 HG02109.hp2 HG02451.hp1 others(12): Show HG00741.hp1 HG02109.hp2 HG02451.hp1 HG02559.hp2 HG02615.hp2 HG02622.hp2 HG02809.hp1 HG02818.hp1 HG02965.hp1 HG02970.hp2 HG03209.hp2 HG03453.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0007 a0004c0004t0001g0028 a0004c0004t0001g0156 others(5): Show a0004c0004t0001g0007 a0004c0004t0001g0028 a0004c0004t0001g0156 a0004c0004t0001g0159 a0004c0004t0001g0160 a0004c0004t0001g0161 a0004c0004t0001g0162 a0004c0004t0001g0249	15	430	0.0349	-3	c.29_ others(8): Show c.29_31delAAG	p.Glu others(5): Show p.Glu10del	CDRT4	ENSG00000239704.12	transcript	ENST00000619038.5	protein_coding	3/4	322/2508	29/459	10/152		chr17	TogoVar
CDSN_chr6_31110087_31125446	31117165	GCTT GCTT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp2 HG00280.hp1 HG00673.hp1 others(91): Show HG00099.hp2 HG00280.hp1 HG00673.hp1 HG00738.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01433.hp1 HG01515.hp2 HG01891.hp1 HG01978.hp1 HG01981.hp1 HG02015.hp2 HG02055.hp1 HG02056.hp1 HG02080.hp1 HG02129.hp1 HG02145.hp1 HG02155.hp1 HG02280.hp1 HG02300.hp1 HG02486.hp1 HG02602.hp1 HG02683.hp2 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp2 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03669.hp1 HG03831.hp2 HG03927.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp1 NA18522.hp2 NA18612.hp2 NA18940.hp2 NA18942.hp2 NA18946.hp1 NA18950.hp1 NA18954.hp1 NA18959.hp2 NA18960.hp2 NA18962.hp1 NA18965.hp2 NA18966.hp1 NA18969.hp1 NA18969.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18989.hp1 NA18989.hp2 NA18991.hp2 NA18992.hp1 NA18998.hp1 NA18999.hp1 NA19001.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19010.hp1 NA19030.hp2 NA19056.hp2 NA19057.hp1 NA19063.hp1 NA19066.hp2 NA19067.hp2 NA19070.hp1 NA19074.hp2 NA19078.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19085.hp1 NA19086.hp2	a0005 a0006 a0007 others(4): Show a0005 a0006 a0007 a0009 a0011 a0012 a0013	a0005c0005 a0006c0006 a0007c0007 others(4): Show a0005c0005 a0006c0006 a0007c0007 a0009c0010 a0011c0013 a0012c0014 a0013c0018	a0005c0005t0006 a0005c0005t0009 a0005c0005t0014 others(7): Show a0005c0005t0006 a0005c0005t0009 a0005c0005t0014 a0006c0006t0004 a0007c0007t0005 a0007c0007t0007 a0009c0010t0005 a0011c0013t0004 a0012c0014t0004 a0013c0018t0004	a0005c0005t0006g0012 a0005c0005t0006g0026 a0005c0005t0006g0044 others(25): Show a0005c0005t0006g0012 a0005c0005t0006g0026 a0005c0005t0006g0044 a0005c0005t0006g0084 a0005c0005t0006g0085 a0005c0005t0006g0086 a0005c0005t0006g0087 a0005c0005t0006g0088 a0005c0005t0006g0089 a0005c0005t0009g0032 a0005c0005t0009g0043 a0005c0005t0014g0090 a0006c0006t0004g0006 a0006c0006t0004g0031 a0006c0006t0004g0083 a0007c0007t0005g0010 a0007c0007t0005g0069 a0007c0007t0007g0015 a0007c0007t0007g0037 a0007c0007t0007g0068 a0009c0010t0005g0016 a0009c0010t0005g0038 a0009c0010t0005g0074 a0011c0013t0004g0064 a0011c0013t0004g0065 a0011c0013t0004g0066 a0012c0014t0004g0036 a0013c0018t0004g0067	94	446	0.2108	-3	c.447 others(10): Show c.447_449delAAG	p.Ser others(6): Show p.Ser150del	CDSN	ENSG00000204539.4	transcript	ENST00000376288.3	protein_coding	2/2	476/2555	447/1590	149/529		chr6	TogoVar
CEBPZ_chr2_37196612_37236596	37201783	GTTT GTTT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00741.hp1 HG02004.hp1 others(3): Show HG00099.hp1 HG00741.hp1 HG02004.hp1 HG03239.hp2 HG03834.hp2 NA20752.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0002 a0004c0007t0001 a0004c0007t0002	a0004c0007t0001g0040 a0004c0007t0001g0041 a0004c0007t0001g0149 others(1): Show a0004c0007t0001g0040 a0004c0007t0001g0041 a0004c0007t0001g0149 a0004c0007t0002g0291	6	438	0.0137	-3	c.314 others(12): Show c.3143_3145delAAA	p.Lys others(7): Show p.Lys1048del	CEBPZ	ENSG00000115816.15	transcript	ENST00000234170.10	protein_coding	16/16	3174/3346	3143/3165	1048/1054		chr2	TogoVar
CELSR1_chr22_46356174_46542620	46364133	CGTGCGCG others(5): Show CGTGCGCGAGGAT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03471.hp2 HG03471.hp2	a0032 a0032	a0032c0018 a0032c0018	a0032c0018t0002 a0032c0018t0002	a0032c0018t0002g0021 a0032c0018t0002g0021	1	104	0.0096	-12	c.888 others(21): Show c.8886_8897delATCCTCGCGCAC	p.Ser others(15): Show p.Ser2963_Thr2966del	CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	34/35	9347/11559	8886/9060	2962/3019		chr22	TogoVar
CEL_chr9_133056981_133076861	133071216	CCCCCCAC others(389): Show CCCCCCACGGGTGACTCCGAGACCGCCCCCGTGCCGCCCACGGGTGACTC CGGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGC CGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTCC GGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCC GCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCG GGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGCGCCCCCCCCGTGCCG CCCACGGGTGACGCCGGGCCCCCCCCCGTGCCGCCCACGGGTGACTCCGG CGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGA	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03098.hp2 HG03098.hp2	a0033 a0033	a0033c0239 a0033c0239	a0033c0239t0001 a0033c0239t0001	a0033c0239t0001g0091 a0033c0239t0001g0091	1	416	0.0024	-396	c.177 others(9): Show c.1776_2171del	p.Val others(13): Show p.Val593_Pro724del	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	1798/2381	1776/2262	592/753	INFO_REALIGN_3_PRIME	chr9	TogoVar
CEL_chr9_133056981_133076861	133071218	CCCCACGG others(26): Show CCCCACGGGTGACTCCGAGACCGCCCCCGTGCCG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03704.hp2 HG03704.hp2	a0055 a0055	a0055c0181 a0055c0181	a0055c0181t0001 a0055c0181t0001	a0055c0181t0001g0001 a0055c0181t0001g0001	1	416	0.0024	-33	c.173 others(42): Show c.1733_1765delAGACCGCCCCCGTGCCGCCCACGGGTGACTCCG	p.Glu others(13): Show p.Glu578_Ser588del	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	1755/2381	1733/2262	578/753	INFO_REALIGN_3_PRIME	chr9	TogoVar
CEL_chr9_133056981_133076861	133071218	CCCCACGG others(92): Show CCCCACGGGTGACTCCGAGACCGCCCCCGTGCCGCCCACGGGTGACTCCG GGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03942.hp2 HG04199.hp1 HG03942.hp2 HG04199.hp1	a0054 a0056 a0054 a0056	a0054c0179 a0056c0180 a0054c0179 a0056c0180	a0054c0179t0001 a0056c0180t0001 a0054c0179t0001 a0056c0180t0001	a0054c0179t0001g0086 a0056c0180t0001g0087 a0054c0179t0001g0086 a0056c0180t0001g0087	2	416	0.0048	-99	c.173 others(108): Show c.1733_1831delAGACCGCCCCCGTGCCGCCCACGGGTGACTCCGGGG CCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCC ACGGGTGACTCCG	p.Glu others(13): Show p.Glu578_Ser610del	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	1755/2381	1733/2262	578/753	INFO_REALIGN_3_PRIME	chr9	TogoVar

Search by Variant

Search

Search Results (Total: 1873 hits)