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 (≤).

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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
FOXI2_chr10_127732185_127746183	127738728	G G	GGCC GGCC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00621.hp2 HG01928.hp1 HG01952.hp2 others(9): Show HG00621.hp2 HG01928.hp1 HG01952.hp2 HG01981.hp2 HG02004.hp2 HG02129.hp1 HG03942.hp1 HG04199.hp2 NA18612.hp2 NA18951.hp2 NA19011.hp2 NA19088.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0004 a0002c0002t0009 others(4): Show a0002c0002t0001 a0002c0002t0004 a0002c0002t0009 a0002c0002t0036 a0002c0002t0133 a0002c0002t0136 a0002c0002t0141	a0002c0002t0001g0001 a0002c0002t0004g0001 a0002c0002t0009g0001 others(4): Show a0002c0002t0001g0001 a0002c0002t0004g0001 a0002c0002t0009g0001 a0002c0002t0036g0001 a0002c0002t0133g0001 a0002c0002t0136g0001 a0002c0002t0141g0001	12	434	0.0277	3	c.724 others(10): Show c.724_726dupGCC	p.Ala others(6): Show p.Ala242dup	FOXI2	ENSG00000186766.8	transcript	ENST00000388920.5	protein_coding	2/2	816/3264	727/957	243/318	INFO_REALIGN_3_PRIME	chr10	TogoVar
FOXO3B_chr17_18662629_18687314	18673034	G G	GCGCCGCC others(2): Show GCGCCGCCGC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02559.hp2 HG02615.hp2 HG03209.hp1 others(2): Show HG02559.hp2 HG02615.hp2 HG03209.hp1 HG03516.hp2 NA19240.hp2	a0009 a0012 a0009 a0012	a0009c0009 a0012c0015 a0009c0009 a0012c0015	a0009c0009t0012 a0012c0015t0028 a0009c0009t0012 a0012c0015t0028	a0009c0009t0012g0016 a0012c0015t0028g0080 a0009c0009t0012g0016 a0012c0015t0028g0080	5	456	0.0110	9	c.139 others(16): Show c.139_147dupGCGGCGGCG	p.Ala others(11): Show p.Ala47_Ala49dup	FOXO3B	ENSG00000240445.6	transcript	ENST00000395675.7	protein_coding	4/4	453/5859	147/873	49/290		chr17	TogoVar
FREM3_chr4_143572302_143705675	143700251	T T	TGCAGCA TGCAGCA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02132.hp2 NA18943.hp2 NA18978.hp2 others(4): Show HG02132.hp2 NA18943.hp2 NA18978.hp2 NA19010.hp1 NA19082.hp2 NA19084.hp1 NA19089.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0006 a0006c0007t0001g0250 a0006c0007t0001g0251 others(3): Show a0006c0007t0001g0006 a0006c0007t0001g0250 a0006c0007t0001g0251 a0006c0007t0001g0252 a0006c0007t0001g0253 a0006c0007t0001g0254	7	260	0.0269	6	c.419 others(13): Show c.419_424dupTGCTGC	p.Leu others(13): Show p.Leu140_Leu141dup	FREM3	ENSG00000183090.5	transcript	ENST00000329798.5	protein_coding	1/8	424/6729	424/6420	142/2139		chr4	TogoVar
FSCB_chr14_44499149_44512283	44505130	C C	CGGGGGCC others(29): Show CGGGGGCCTCCTCAGCTGGTGGAGGCTGAACTTCAGT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02615.hp1 HG02615.hp1	a0019 a0019	a0019c0021 a0019c0021	a0019c0021t0002 a0019c0021t0002	a0019c0021t0002g0000 a0019c0021t0002g0000	1	446	0.0022	36	c.185 others(45): Show c.1857_1858insACTGAAGTTCAGCCTCCACCAGCTGAGGAGGCCCCC	p.Pro others(49): Show p.Pro619_Ala620insThrGluValGlnProProProAlaGluGluAl aPro	FSCB	ENSG00000189139.6	transcript	ENST00000340446.5	protein_coding	1/1	2153/3135	1857/2478	619/825		chr14	TogoVar
FSCN2_chr17_81523377_81542130	81528573	T T	TGGCCTCG others(23): Show TGGCCTCGTCAACGACACTGACCGCTACCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18974.hp2 NA18974.hp2	a0004 a0004	a0004c0020 a0004c0020	a0004c0020t0001 a0004c0020t0001	a0004c0020t0001g0002 a0004c0020t0001g0002	1	432	0.0023	30	c.43_ others(35): Show c.43_72dupGGCCTCGTCAACGACACTGACCGCTACCTG	p.Gly others(11): Show p.Gly15_Leu24dup	FSCN2	ENSG00000186765.12	transcript	ENST00000417245.7	protein_coding	1/5	228/1684	73/1479	25/492	INFO_REALIGN_3_PRIME	chr17	TogoVar
FZD3_chr8_28489212_28579258	28527485	C C	CAGTCTGC others(11): Show CAGTCTGCTACATGATGGT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18955.hp2 NA18955.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0097 a0003c0006t0002g0097	1	328	0.0031	18	c.727 others(25): Show c.727_744dupGTCTGCTACATGATGGTA	p.Val others(13): Show p.Val243_Val248dup	FZD3	ENSG00000104290.11	transcript	ENST00000240093.8	protein_coding	5/8	1267/13770	745/2001	249/666	INFO_REALIGN_3_PRIME	chr8	TogoVar
FZD7_chr2_202028855_202043441	202035079	G G	GGGCCCCC others(29): Show GGGCCCCCGGGGGGGCAGGGGACCCCCTGACTAGCGC	stop_gained others(1): Show stop_gained conservative_inframe_insertion	HIGH	HG03704.hp1 HG03704.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0001 a0003c0009t0001	a0003c0009t0001g0000 a0003c0009t0001g0000	1	420	0.0024	36	c.432 others(43): Show c.432_433insGGCCCCCGGGGGGGCAGGGGACCCCCTGACTAGCGC	p.Glu others(49): Show p.Glu144_Arg145insGlyProArgGlyGlyArgGlyProProAspTe rArg	FZD7	ENSG00000155760.3	transcript	ENST00000286201.3	protein_coding	1/1	1226/4587	433/1725	145/574		chr2	TogoVar
GAGE2A_chrX_49584496_49601824	49590674	C C	CTAT CTAT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00099.hp2 HG00423.hp2 HG00438.hp2 others(53): Show HG00099.hp2 HG00423.hp2 HG00438.hp2 HG00639.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01167.hp1 HG01175.hp2 HG01256.hp1 HG01346.hp2 HG01884.hp1 HG01884.hp2 HG01975.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02056.hp2 HG02074.hp2 HG02080.hp2 HG02109.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02293.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02683.hp2 HG02723.hp2 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03239.hp2 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03710.hp1 HG03942.hp1 HG04184.hp2 NA18942.hp2 NA18964.hp2 NA18972.hp1 NA18987.hp2 NA19062.hp1 NA19074.hp2 NA20300.hp1 NA20300.hp2	a0002 a0004 a0005 others(4): Show a0002 a0004 a0005 a0006 a0008 a0009 a0010	a0002c0002 a0004c0004 a0005c0005 others(5): Show a0002c0002 a0004c0004 a0005c0005 a0005c0009 a0006c0006 a0008c0008 a0009c0011 a0010c0010	a0002c0002t0001 a0002c0002t0005 a0004c0004t0001 others(9): Show a0002c0002t0001 a0002c0002t0005 a0004c0004t0001 a0004c0004t0004 a0005c0005t0001 a0005c0005t0007 a0005c0005t0008 a0005c0009t0001 a0006c0006t0001 a0008c0008t0001 a0009c0011t0005 a0010c0010t0001	a0002c0002t0001g0002 a0002c0002t0001g0006 a0002c0002t0001g0011 others(41): Show a0002c0002t0001g0002 a0002c0002t0001g0006 a0002c0002t0001g0011 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0057 a0002c0002t0001g0059 a0002c0002t0001g0063 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0094 a0002c0002t0005g0084 a0004c0004t0001g0007 a0004c0004t0001g0062 a0004c0004t0001g0064 a0004c0004t0001g0073 a0004c0004t0001g0093 a0004c0004t0004g0004 a0005c0005t0001g0072 a0005c0005t0001g0074 a0005c0005t0001g0075 a0005c0005t0001g0087 a0005c0005t0001g0089 a0005c0005t0001g0090 a0005c0005t0007g0018 a0005c0005t0008g0056 a0005c0009t0001g0071 a0006c0006t0001g0061 a0006c0006t0001g0078 a0008c0008t0001g0060 a0009c0011t0005g0058 a0010c0010t0001g0053	56	130	0.4308	3	c.25_ others(8): Show c.25_27dupTAT	p.Tyr others(4): Show p.Tyr9dup	GAGE2A	ENSG00000189064.9	transcript	ENST00000362097.2	protein_coding	2/5	144/558	28/351	10/116	INFO_REALIGN_3_PRIME	chrX	TogoVar
GAGE2A_chrX_49584496_49601824	49591281	C C	CAGA CAGA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18964.hp2 NA18964.hp2	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0001 a0008c0008t0001	a0008c0008t0001g0060 a0008c0008t0001g0060	1	130	0.0077	3	c.168 others(10): Show c.168_169insAAG	p.Gln others(14): Show p.Gln56_Glu57insLys	GAGE2A	ENSG00000189064.9	transcript	ENST00000362097.2	protein_coding	3/5	285/558	169/351	57/116	INFO_REALIGN_3_PRIME	chrX	TogoVar
GALR3_chr22_37818382_37830485	37825093	T T	TACGCGCT others(17): Show TACGCGCTCTGCTGGGGTCCGCACC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA20905.hp2 NA20905.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0004 a0006c0010t0001g0004	1	402	0.0025	24	c.739 others(31): Show c.739_762dupTGCTGGGGTCCGCACCACGCGCTC	p.Cys others(13): Show p.Cys247_Leu254dup	GALR3	ENSG00000128310.3	transcript	ENST00000249041.3	protein_coding	2/2	788/1147	763/1107	255/368	INFO_REALIGN_3_PRIME	chr22	TogoVar
GARIN5B_chr19_55349908_55368260	55359429	C C	CGGGATGG others(23): Show CGGGATGGAGCAGGTATGGCTGGGGCCTTCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00738.hp1 HG01891.hp2 HG02572.hp1 others(5): Show HG00738.hp1 HG01891.hp2 HG02572.hp1 HG02886.hp2 HG02896.hp2 HG03540.hp2 NA18522.hp2 NA20129.hp2	a0008 a0026 a0029 a0008 a0026 a0029	a0008c0009 a0026c0020 a0029c0024 a0008c0009 a0026c0020 a0029c0024	a0008c0009t0004 a0008c0009t0008 a0026c0020t0007 others(1): Show a0008c0009t0004 a0008c0009t0008 a0026c0020t0007 a0029c0024t0001	a0008c0009t0004g0012 a0008c0009t0004g0137 a0008c0009t0008g0136 others(2): Show a0008c0009t0004g0012 a0008c0009t0004g0137 a0008c0009t0008g0136 a0026c0020t0007g0135 a0029c0024t0001g0071	8	356	0.0225	30	c.140 others(39): Show c.1409_1438dupAGAAGGCCCCAGCCATACCTGCTCCATCCC	p.Gln others(13): Show p.Gln470_Ser479dup	GARIN5B	ENSG00000180043.11	transcript	ENST00000424985.3	protein_coding	9/11	1632/3191	1438/2769	480/922		chr19	TogoVar
GAS2L3_chr12_100568684_100633288	100600497	C C	CCACTTTG others(26): Show CCACTTTGTTGCCCATGCAAGAAGATCTGTCAAT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18956.hp2 NA18956.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0015 a0005c0009t0015	a0005c0009t0015g0050 a0005c0009t0015g0050	1	402	0.0025	33	c.136 others(40): Show c.136_168dupACTTTGTTGCCCATGCAAGAAGATCTGTCAATC	p.Thr others(11): Show p.Thr46_Ile56dup	GAS2L3	ENSG00000139354.11	transcript	ENST00000547754.6	protein_coding	4/10	422/5736	169/2085	57/694	INFO_REALIGN_3_PRIME	chr12	TogoVar
GCNA_chrX_71573437_71618583	71603677	A A	AATG AATG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02055.hp1 HG02257.hp1 HG02055.hp1 HG02257.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0002 a0006c0006t0002	a0006c0006t0002g0035 a0006c0006t0002g0036 a0006c0006t0002g0035 a0006c0006t0002g0036	2	265	0.0076	3	c.403 others(10): Show c.403_405dupGAT	p.Asp others(6): Show p.Asp135dup	GCNA	ENSG00000147174.12	transcript	ENST00000373696.8	protein_coding	8/13	494/2765	406/2076	136/691	INFO_REALIGN_3_PRIME	chrX	TogoVar
GCNA_chrX_71573437_71618583	71603978	T T	TTCCCGAC others(23): Show TTCCCGACGACAGCAGTGATGATTCGGAAGC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02055.hp1 HG02056.hp1 HG02165.hp2 others(3): Show HG02055.hp1 HG02056.hp1 HG02165.hp2 HG02257.hp1 HG03540.hp1 NA19082.hp1	a0004 a0006 a0004 a0006	a0004c0004 a0006c0006 a0004c0004 a0006c0006	a0004c0004t0001 a0006c0006t0002 a0004c0004t0001 a0006c0006t0002	a0004c0004t0001g0012 a0004c0004t0001g0020 a0004c0004t0001g0024 others(3): Show a0004c0004t0001g0012 a0004c0004t0001g0020 a0004c0004t0001g0024 a0004c0004t0001g0113 a0006c0006t0002g0035 a0006c0006t0002g0036	6	265	0.0226	30	c.823 others(37): Show c.823_852dupCCCGACGACAGCAGTGATGATTCGGAAGCT	p.Pro others(13): Show p.Pro275_Ala284dup	GCNA	ENSG00000147174.12	transcript	ENST00000373696.8	protein_coding	8/13	941/2765	853/2076	285/691	INFO_REALIGN_3_PRIME	chrX	TogoVar
GGA3_chr17_75231599_75266606	75239519	G G	GGGT GGGT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01884.hp2 HG02258.hp1 HG02717.hp1 others(3): Show HG01884.hp2 HG02258.hp1 HG02717.hp1 HG03195.hp2 HG03225.hp1 NA19043.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0032 a0003c0005t0001g0141 a0003c0005t0001g0196 others(2): Show a0003c0005t0001g0032 a0003c0005t0001g0141 a0003c0005t0001g0196 a0003c0005t0001g0198 a0003c0005t0001g0208	6	364	0.0165	3	c.163 others(12): Show c.1633_1635dupACC	p.Thr others(6): Show p.Thr545dup	GGA3	ENSG00000125447.18	transcript	ENST00000537686.6	protein_coding	14/17	1654/3871	1635/2172	545/723		chr17	TogoVar
GOLGA6L10_chr15_82334993_82354475	82344656	T T	TCCTCTCC others(11): Show TCCTCTCCAGCTCCCGCAG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00639.hp2 HG00735.hp1 HG01361.hp2 others(2): Show HG00639.hp2 HG00735.hp1 HG01361.hp2 HG03490.hp2 HG03492.hp2	a0010 a0010	a0010c0013 a0010c0022 a0010c0013 a0010c0022	a0010c0013t0009 a0010c0022t0009 a0010c0013t0009 a0010c0022t0009	a0010c0013t0009g0015 a0010c0022t0009g0030 a0010c0013t0009g0015 a0010c0022t0009g0030	5	301	0.0166	18	c.118 others(27): Show c.1186_1203dupCTGCGGGAGCTGGAGAGG	p.Arg others(31): Show p.Arg401_Met402insLeuArgGluLeuGluArg	GOLGA6L10	ENSG00000278662.6	transcript	ENST00000610657.2	protein_coding	6/9	1303/4452	1203/1569	401/522		chr15	TogoVar
GOLGA6L10_chr15_82334993_82354475	82344688	C C	CGCAGCCT others(11): Show CGCAGCCTCTCCAGCTCCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18522.hp2 NA18522.hp2	a0026 a0026	a0026c0028 a0026c0028	a0026c0028t0047 a0026c0028t0047	a0026c0028t0047g0045 a0026c0028t0047g0045	1	301	0.0033	18	c.117 others(27): Show c.1171_1172insAGGAGCTGGAGAGGCTGC	p.Leu others(31): Show p.Leu390_Arg391insGlnGluLeuGluArgLeu	GOLGA6L10	ENSG00000278662.6	transcript	ENST00000610657.2	protein_coding	6/9	1271/4452	1171/1569	391/522		chr15	TogoVar
GOLGA6L10_chr15_82334993_82354475	82344887	T T	TCTCCTGT others(35): Show TCTCCTGTTCACACAGCCTCTCCTCCTGTTCACATAGCCTCTC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01257.hp1 HG01928.hp2 HG01943.hp1 others(4): Show HG01257.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 NA18955.hp2 NA18956.hp2 NA18978.hp1	a0007 a0054 a0007 a0054	a0007c0008 a0054c0051 a0007c0008 a0054c0051	a0007c0008t0001 a0007c0008t0007 a0054c0051t0031 a0007c0008t0001 a0007c0008t0007 a0054c0051t0031	a0007c0008t0001g0094 a0007c0008t0007g0010 a0007c0008t0007g0060 others(1): Show a0007c0008t0001g0094 a0007c0008t0007g0010 a0007c0008t0007g0060 a0054c0051t0031g0061	7	301	0.0233	42	c.931 others(49): Show c.931_972dupGAGAGGCTATGTGAACAGGAGGAGAGGCTGTGTGAACA GGAG	p.Glu others(55): Show p.Glu324_Lys325insGluArgLeuCysGluGlnGluGluArgLeuCy sGluGlnGlu	GOLGA6L10	ENSG00000278662.6	transcript	ENST00000610657.2	protein_coding	6/9	1072/4452	972/1569	324/522		chr15	TogoVar
GOLGA6L10_chr15_82334993_82354475	82344920	A A	ATAGCCTC others(35): Show ATAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01257.hp1 HG01515.hp1 HG01517.hp1 HG01257.hp1 HG01515.hp1 HG01517.hp1	a0025 a0054 a0025 a0054	a0025c0024 a0054c0051 a0025c0024 a0054c0051	a0025c0024t0001 a0054c0051t0031 a0025c0024t0001 a0054c0051t0031	a0025c0024t0001g0023 a0054c0051t0031g0061 a0025c0024t0001g0023 a0054c0051t0031g0061	3	301	0.0100	42	c.939 others(49): Show c.939_940insCGTGAACAGGAGGAGAGGCTGTGTGAACAGGAGGAGAG GCTA	p.Leu others(55): Show p.Leu313_Cys314insArgGluGlnGluGluArgLeuCysGluGlnGl uGluArgLeu	GOLGA6L10	ENSG00000278662.6	transcript	ENST00000610657.2	protein_coding	6/9	1039/4452	939/1569	313/522		chr15	TogoVar
GOLGA6L10_chr15_82334993_82354475	82344920	A A	ATAGCCTC others(77): Show ATAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTC TCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00438.hp2 HG00733.hp2 HG02004.hp2 others(2): Show HG00438.hp2 HG00733.hp2 HG02004.hp2 NA18944.hp2 NA18960.hp1	a0012 a0012	a0012c0011 a0012c0011	a0012c0011t0001 a0012c0011t0043 a0012c0011t0001 a0012c0011t0043	a0012c0011t0001g0011 a0012c0011t0043g0062 a0012c0011t0001g0011 a0012c0011t0043g0062	5	301	0.0166	84	c.939 others(91): Show c.939_940insCGTGAACAGGAGGAGAGGCTGTGTGAACAGGAGGAGAG GCTACGTGAACAGGAGGAGAGGCTGTGTGAACAGGAGGAGAGGCTA	p.Leu others(97): Show p.Leu313_Cys314insArgGluGlnGluGluArgLeuCysGluGlnGl uGluArgLeuArgGluGlnGluGluArgLeuCysGluGlnGluGluArgL eu	GOLGA6L10	ENSG00000278662.6	transcript	ENST00000610657.2	protein_coding	6/9	1039/4452	939/1569	313/522		chr15	TogoVar
GOLGA6L10_chr15_82334993_82354475	82345003	C C	CGTAGCCT others(77): Show CGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACACAGCCT CTCCTCCTGTTCATGTAGCCTCTCCTCCTGTTCAT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA19043.hp2 NA19043.hp2	a0038 a0038	a0038c0031 a0038c0031	a0038c0031t0006 a0038c0031t0006	a0038c0031t0006g0058 a0038c0031t0006g0058	1	301	0.0033	84	c.856 others(91): Show c.856_857insATGAACAGGAGGAGAGGCTACATGAACAGGAGGAGAGG CTGTGTGAACAGGAGGAGAGGCTGTGTGAACAGGAGGAGAGGCTAC	p.Cys others(96): Show p.Cys286delinsTyrGluGlnGluGluArgLeuHisGluGlnGluGlu ArgLeuCysGluGlnGluGluArgLeuCysGluGlnGluGluArgLeuAr g	GOLGA6L10	ENSG00000278662.6	transcript	ENST00000610657.2	protein_coding	6/9	956/4452	856/1569	286/522		chr15	TogoVar
GOLGA6L10_chr15_82334993_82354475	82345004	A A	ATAGCCTC others(35): Show ATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02683.hp1 HG02683.hp1	a0032 a0032	a0032c0037 a0032c0037	a0032c0037t0004 a0032c0037t0004	a0032c0037t0004g0050 a0032c0037t0004g0050	1	301	0.0033	42	c.814 others(49): Show c.814_855dupCGTGAACAGGAGGAGAGGCTACGTGAACAGGAGGAGAG GCTA	p.Leu others(55): Show p.Leu285_Cys286insArgGluGlnGluGluArgLeuArgGluGlnGl uGluArgLeu	GOLGA6L10	ENSG00000278662.6	transcript	ENST00000610657.2	protein_coding	6/9	955/4452	855/1569	285/522		chr15	TogoVar
GOLGA6L10_chr15_82334993_82354475	82345024	C C	CACAGCCT others(35): Show CACAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCAT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03471.hp2 HG03471.hp2	a0021 a0021	a0021c0018 a0021c0018	a0021c0018t0006 a0021c0018t0006	a0021c0018t0006g0025 a0021c0018t0006g0025	1	301	0.0033	42	c.835 others(49): Show c.835_836insATGAACAGGAGGAGAGGCTGTGTGAACAGGAGGAGAGG CTGT	p.Arg others(54): Show p.Arg279delinsHisGluGlnGluGluArgLeuCysGluGlnGluGlu ArgLeuCys	GOLGA6L10	ENSG00000278662.6	transcript	ENST00000610657.2	protein_coding	6/9	935/4452	835/1569	279/522		chr15	TogoVar
GOLGA6L10_chr15_82334993_82354475	82345024	C C	CACAGCCT others(56): Show CACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCT CTCCTCCTGTTCAT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00735.hp2 HG01928.hp1 HG00735.hp2 HG01928.hp1	a0019 a0019	a0019c0020 a0019c0020	a0019c0020t0001 a0019c0020t0001	a0019c0020t0001g0028 a0019c0020t0001g0028	2	301	0.0066	63	c.835 others(70): Show c.835_836insATGAACAGGAGGAGAGGCTGTGTGAACAGGAGGAGAGG CTACGTGAACAGGAGGAGAGGCTGT	p.Arg others(75): Show p.Arg279delinsHisGluGlnGluGluArgLeuCysGluGlnGluGlu ArgLeuArgGluGlnGluGluArgLeuCys	GOLGA6L10	ENSG00000278662.6	transcript	ENST00000610657.2	protein_coding	6/9	935/4452	835/1569	279/522		chr15	TogoVar
GOLGA6L10_chr15_82334993_82354475	82345024	C C	CACAGCCT others(77): Show CACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCT CTCCTCCTGTTCATGTAGCCTCTCCTCCTGTTCAT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01981.hp2 HG02004.hp1 HG02293.hp1 others(2): Show HG01981.hp2 HG02004.hp1 HG02293.hp1 NA18959.hp2 NA19090.hp2	a0013 a0036 a0013 a0036	a0013c0012 a0036c0036 a0013c0012 a0036c0036	a0013c0012t0001 a0036c0036t0001 a0013c0012t0001 a0036c0036t0001	a0013c0012t0001g0014 a0013c0012t0001g0093 a0036c0036t0001g0079 a0013c0012t0001g0014 a0013c0012t0001g0093 a0036c0036t0001g0079	5	301	0.0166	84	c.835 others(91): Show c.835_836insATGAACAGGAGGAGAGGCTACATGAACAGGAGGAGAGG CTGTGTGAACAGGAGGAGAGGCTACGTGAACAGGAGGAGAGGCTGT	p.Arg others(96): Show p.Arg279delinsHisGluGlnGluGluArgLeuHisGluGlnGluGlu ArgLeuCysGluGlnGluGluArgLeuArgGluGlnGluGluArgLeuCy s	GOLGA6L10	ENSG00000278662.6	transcript	ENST00000610657.2	protein_coding	6/9	935/4452	835/1569	279/522		chr15	TogoVar
GOLGA6L10_chr15_82334993_82354475	82345045	C C	CACAGCCT others(14): Show CACAGCCTCTCCTCCTGTTCAT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02622.hp2 HG02717.hp1 HG02717.hp2 HG02622.hp2 HG02717.hp1 HG02717.hp2	a0022 a0039 a0022 a0039	a0022c0017 a0039c0030 a0022c0017 a0039c0030	a0022c0017t0006 a0039c0030t0006 a0022c0017t0006 a0039c0030t0006	a0022c0017t0006g0024 a0039c0030t0006g0059 a0022c0017t0006g0024 a0039c0030t0006g0059	3	301	0.0100	21	c.814 others(28): Show c.814_815insATGAACAGGAGGAGAGGCTGT	p.Arg others(33): Show p.Arg272delinsHisGluGlnGluGluArgLeuCys	GOLGA6L10	ENSG00000278662.6	transcript	ENST00000610657.2	protein_coding	6/9	914/4452	814/1569	272/522		chr15	TogoVar
GOLGA6L10_chr15_82334993_82354475	82345076	C C	CCTCCTGT others(35): Show CCTCCTGTTCATGTAGCCTCTCCTCCTGTTCATGTAGCCTCTT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA19055.hp2 NA19055.hp2	a0037 a0037	a0037c0033 a0037c0033	a0037c0033t0001 a0037c0033t0001	a0037c0033t0001g0072 a0037c0033t0001g0072	1	301	0.0033	42	c.783 others(49): Show c.783_784insAAGAGGCTACATGAACAGGAGGAGAGGCTACATGAACA GGAG	p.Glu others(55): Show p.Glu261_Glu262insLysArgLeuHisGluGlnGluGluArgLeuHi sGluGlnGlu	GOLGA6L10	ENSG00000278662.6	transcript	ENST00000610657.2	protein_coding	6/9	883/4452	783/1569	261/522		chr15	TogoVar
GOLGA6L10_chr15_82334993_82354475	82345084	T T	TCATGTAG others(35): Show TCATGTAGCCTCTCCTCCTGTTCATGTAGCCTCTCCTCCTGTA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA19070.hp1 NA19070.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0129 a0003c0003t0002g0129	1	301	0.0033	42	c.775 others(49): Show c.775_776insTACAGGAGGAGAGGCTACATGAACAGGAGGAGAGGCTA CATG	p.Arg others(55): Show p.Arg258_Glu259insValGlnGluGluArgLeuHisGluGlnGluGl uArgLeuHis	GOLGA6L10	ENSG00000278662.6	transcript	ENST00000610657.2	protein_coding	6/9	875/4452	775/1569	259/522		chr15	TogoVar
GOLGA6L10_chr15_82334993_82354475	82345087	C C	CACAGCCT others(35): Show CACAGCCTCTCCTCCTGTTCATGTAGCCTCTCCTCCTGTTCAG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18984.hp1 NA18984.hp1	a0040 a0040	a0040c0060 a0040c0060	a0040c0060t0002 a0040c0060t0002	a0040c0060t0002g0140 a0040c0060t0002g0140	1	301	0.0033	42	c.772 others(49): Show c.772_773insCTGAACAGGAGGAGAGGCTACATGAACAGGAGGAGAGG CTGT	p.Arg others(54): Show p.Arg258delinsProGluGlnGluGluArgLeuHisGluGlnGluGlu ArgLeuCys	GOLGA6L10	ENSG00000278662.6	transcript	ENST00000610657.2	protein_coding	6/9	872/4452	772/1569	258/522		chr15	TogoVar
GOLGA6L1_chr15_23122066_23141822	23129607	A A	ACATCTTC others(161): Show ACATCTTCTCTTCCTGTTCCTGCATCATCTCCTCCTGCTCTCGTATCTTC TCCTCCTGCTCCCGTATCTTCTTCTCCTGCTCCCTTATCTTCTCCTCCTG CCTCCGCATCTTCTCCTCCTGTTCTTGCATCTTCTCTTCCTGCTCCCAAA TCTTCTCCTCCTGCTCCCC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02258.hp1 HG02572.hp1 HG02965.hp1 others(1): Show HG02258.hp1 HG02572.hp1 HG02965.hp1 NA19043.hp1	a0018 a0046 a0059 a0018 a0046 a0059	a0018c0018 a0046c0033 a0059c0043 a0018c0018 a0046c0033 a0059c0043	a0018c0018t0006 a0018c0018t0009 a0046c0033t0006 others(1): Show a0018c0018t0006 a0018c0018t0009 a0046c0033t0006 a0059c0043t0006	a0018c0018t0006g0086 a0018c0018t0009g0082 a0046c0033t0006g0060 others(1): Show a0018c0018t0006g0086 a0018c0018t0009g0082 a0046c0033t0006g0060 a0059c0043t0006g0085	4	204	0.0196	168	c.184 others(177): Show c.1845_1846insGGGGAGCAGGAGGAGAAGATTTGGGAGCAGGAAGAG AAGATGCAAGAACAGGAGGAGAAGATGCGGAGGCAGGAGGAGAAGATAAG GGAGCAGGAGAAGAAGATACGGGAGCAGGAGGAGAAGATACGAGAGCAGG AGGAGATGATGCAGGAACAGGAAGAGAAGATG	p.Met others(181): Show p.Met615_Trp616insGlyGluGlnGluGluLysIleTrpGluGlnGl uGluLysMetGlnGluGlnGluGluLysMetArgArgGlnGluGluLysI leArgGluGlnGluLysLysIleArgGluGlnGluGluLysIleArgGlu GlnGluGluMetMetGlnGluGlnGluGluLysMet	GOLGA6L1	ENSG00000273976.2	transcript	ENST00000614055.2	protein_coding	8/9	1936/3822	1845/2007	615/668		chr15	TogoVar
GOLGA6L1_chr15_23122066_23141822	23129607	A A	ACATCTTC others(308): Show ACATCTTCTCTTCCTGTTCCTGCATCATCTCCTCCTGCTCTCGTATCTTC TCCTCCTGCTCCCGTATCTTCTTCTCCTGCTCCCTTATCTTCTCCTCCTG CCTCCGCATCTTCTCCTCCTGTTCTTGCATCTTCTCTTCCTGCTCCCCCA TCTTCTCTTCCTGTTCCTGCATCATCTCCTCCTGCTCTCGTATCTTCTCC TCCTGCTCCCGTATCTTCTTCTCCTGCTCCCTTATCTTCTCCTCCTGCCT CCGCATCTTCTCCTCCTGTTCTTGCATCTTCTCTTCCTGCTCCCAAATCT TCTCCTCCTGCTCCCC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03130.hp2 HG03130.hp2	a0070 a0070	a0070c0060 a0070c0060	a0070c0060t0009 a0070c0060t0009	a0070c0060t0009g0103 a0070c0060t0009g0103	1	204	0.0049	315	c.184 others(324): Show c.1845_1846insGGGGAGCAGGAGGAGAAGATTTGGGAGCAGGAAGAG AAGATGCAAGAACAGGAGGAGAAGATGCGGAGGCAGGAGGAGAAGATAAG GGAGCAGGAGAAGAAGATACGGGAGCAGGAGGAGAAGATACGAGAGCAGG AGGAGATGATGCAGGAACAGGAAGAGAAGATGGGGGAGCAGGAAGAGAAG ATGCAAGAACAGGAGGAGAAGATGCGGAGGCAGGAGGAGAAGATAAGGGA GCAGGAGAAGAAGATACGGGAGCAGGAGGAGAAGATACGAGAGCAGGAGG AGATGATGCAGGAACAGGAAGAGAAGATG	p.Met others(328): Show p.Met615_Trp616insGlyGluGlnGluGluLysIleTrpGluGlnGl uGluLysMetGlnGluGlnGluGluLysMetArgArgGlnGluGluLysI leArgGluGlnGluLysLysIleArgGluGlnGluGluLysIleArgGlu GlnGluGluMetMetGlnGluGlnGluGluLysMetGlyGluGlnGluGl uLysMetGlnGluGlnGluGluLysMetArgArgGlnGluGluLysIleA rgGluGlnGluLysLysIleArgGluGlnGluGluLysIleArgGluGln GluGluMetMetGlnGluGlnGluGluLysMet	GOLGA6L1	ENSG00000273976.2	transcript	ENST00000614055.2	protein_coding	8/9	1936/3822	1845/2007	615/668		chr15	TogoVar
GOLGA6L1_chr15_23122066_23141822	23129675	T T	TTCTTCTC others(119): Show TTCTTCTCCTGCTCCCTTATCTTCTCCTCCTGCCTCCACATCGTCTCCTC CTGTTCTTGCATCTTCTCTTCCTGCTCACACATCTTCTCCTCCTGCTCCC CCATCTTCTCTTCCTGTTCCTGCGTCA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00408.hp1 HG00438.hp2 HG00544.hp2 others(17): Show HG00408.hp1 HG00438.hp2 HG00544.hp2 HG00738.hp1 HG01081.hp2 HG01175.hp1 HG01192.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02132.hp1 HG02135.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG03492.hp2 NA18906.hp1 NA18974.hp1 NA19077.hp2 NA20905.hp1	a0002 a0042 a0055 others(1): Show a0002 a0042 a0055 a0056	a0002c0003 a0002c0046 a0042c0030 others(2): Show a0002c0003 a0002c0046 a0042c0030 a0055c0049 a0056c0047	a0002c0003t0002 a0002c0003t0018 a0002c0046t0002 others(3): Show a0002c0003t0002 a0002c0003t0018 a0002c0046t0002 a0042c0030t0002 a0055c0049t0002 a0056c0047t0002	a0002c0003t0002g0005 a0002c0003t0002g0015 a0002c0003t0002g0016 others(11): Show a0002c0003t0002g0005 a0002c0003t0002g0015 a0002c0003t0002g0016 a0002c0003t0002g0017 a0002c0003t0002g0035 a0002c0003t0002g0040 a0002c0003t0002g0041 a0002c0003t0002g0044 a0002c0003t0002g0045 a0002c0003t0018g0039 a0002c0046t0002g0043 a0042c0030t0002g0033 a0055c0049t0002g0038 a0056c0047t0002g0036	20	204	0.0980	126	c.177 others(135): Show c.1777_1778insTGACGCAGGAACAGGAAGAGAAGATGGGGGAGCAGG AGGAGAAGATGTGTGAGCAGGAAGAGAAGATGCAAGAACAGGAGGAGACG ATGTGGAGGCAGGAGGAGAAGATAAGGGAGCAGGAGAAGA	p.Glu others(139): Show p.Glu592_Lys593insMetThrGlnGluGlnGluGluLysMetGlyGl uGlnGluGluLysMetCysGluGlnGluGluLysMetGlnGluGlnGluG luThrMetTrpArgGlnGluGluLysIleArgGluGlnGluLys	GOLGA6L1	ENSG00000273976.2	transcript	ENST00000614055.2	protein_coding	8/9	1868/3822	1777/2007	593/668		chr15	TogoVar
GOLGA6L1_chr15_23122066_23141822	23129675	T T	TTCTTCTC others(119): Show TTCTTCTCCTGCTCCCTTATCTTCTCCTCCTGCCTCCACATCGTCTCCTC CTGTTCTTGCATCTTCTCTTCCTGCTCACACATCTTCTCCTCCTGCTCCC CCATCTTCTCTTCCTGTTCCTGTGTCA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18977.hp2 NA18977.hp2	a0002 a0002	a0002c0048 a0002c0048	a0002c0048t0002 a0002c0048t0002	a0002c0048t0002g0037 a0002c0048t0002g0037	1	204	0.0049	126	c.177 others(135): Show c.1777_1778insTGACACAGGAACAGGAAGAGAAGATGGGGGAGCAGG AGGAGAAGATGTGTGAGCAGGAAGAGAAGATGCAAGAACAGGAGGAGACG ATGTGGAGGCAGGAGGAGAAGATAAGGGAGCAGGAGAAGA	p.Glu others(139): Show p.Glu592_Lys593insMetThrGlnGluGlnGluGluLysMetGlyGl uGlnGluGluLysMetCysGluGlnGluGluLysMetGlnGluGlnGluG luThrMetTrpArgGlnGluGluLysIleArgGluGlnGluLys	GOLGA6L1	ENSG00000273976.2	transcript	ENST00000614055.2	protein_coding	8/9	1868/3822	1777/2007	593/668		chr15	TogoVar
GOLGA6L1_chr15_23122066_23141822	23129733	T T	TTATCTTC others(293): Show TTATCTTCTCCTCCTGCCTCCACATCTTCTCCTCCTGCTCCCGTATCTTC TCCTCCTGGTCGTGCATCTTCTCCTCCTGCCTCCACACCTTCTCCTCCTG CTTCCGTATCTTCTCCTGCTCGTGCATCTTCTCCTTTTGCCTCCATATCT CCTCCTGCTCCCTTATCTTCTCCTCCTGCCTCCGCATCTCCTCCTGCTCC TGCCTCTTCTCCTCCTCCCGTATCTTCTCCTGCTCGTGAATCTTCTCCTC CTGCCTCCACATCTTTTTCTCCTGCTCCCGTATCTTCTCTTCCTGCTCCC G	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01074.hp1 HG01074.hp1	a0047 a0047	a0047c0032 a0047c0032	a0047c0032t0001 a0047c0032t0001	a0047c0032t0001g0059 a0047c0032t0001g0059	1	204	0.0049	300	c.171 others(309): Show c.1719_1720insCGGGAGCAGGAAGAGAAGATACGGGAGCAGGAGAAA AAGATGTGGAGGCAGGAGGAGAAGATTCACGAGCAGGAGAAGATACGGGA GGAGGAGAAGAGGCAGGAGCAGGAGGAGATGCGGAGGCAGGAGGAGAAGA TAAGGGAGCAGGAGGAGATATGGAGGCAAAAGGAGAAGATGCACGAGCAG GAGAAGATACGGAAGCAGGAGGAGAAGGTGTGGAGGCAGGAGGAGAAGAT GCACGACCAGGAGGAGAAGATACGGGAGCAGGAGGAGAAGATGTGGAGGC AGGAGGAGAAGATA	p.Ile others(313): Show p.Ile573_Arg574insArgGluGlnGluGluLysIleArgGluGlnGl uLysLysMetTrpArgGlnGluGluLysIleHisGluGlnGluLysIleA rgGluGluGluLysArgGlnGluGlnGluGluMetArgArgGlnGluGlu LysIleArgGluGlnGluGluIleTrpArgGlnLysGluLysMetHisGl uGlnGluLysIleArgLysGlnGluGluLysValTrpArgGlnGluGluL ysMetHisAspGlnGluGluLysIleArgGluGlnGluGluLysMetTrp ArgGlnGluGluLysIle	GOLGA6L1	ENSG00000273976.2	transcript	ENST00000614055.2	protein_coding	8/9	1810/3822	1719/2007	573/668		chr15	TogoVar
GOLGA6L1_chr15_23122066_23141822	23129760	T T	TCTC TCTC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00408.hp1 HG00438.hp2 HG00544.hp2 others(18): Show HG00408.hp1 HG00438.hp2 HG00544.hp2 HG00738.hp1 HG01081.hp2 HG01175.hp1 HG01192.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02132.hp1 HG02135.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG03492.hp2 NA18906.hp1 NA18974.hp1 NA18977.hp2 NA19077.hp2 NA20905.hp1	a0002 a0042 a0055 others(1): Show a0002 a0042 a0055 a0056	a0002c0003 a0002c0046 a0002c0048 others(3): Show a0002c0003 a0002c0046 a0002c0048 a0042c0030 a0055c0049 a0056c0047	a0002c0003t0002 a0002c0003t0018 a0002c0046t0002 others(4): Show a0002c0003t0002 a0002c0003t0018 a0002c0046t0002 a0002c0048t0002 a0042c0030t0002 a0055c0049t0002 a0056c0047t0002	a0002c0003t0002g0005 a0002c0003t0002g0015 a0002c0003t0002g0016 others(12): Show a0002c0003t0002g0005 a0002c0003t0002g0015 a0002c0003t0002g0016 a0002c0003t0002g0017 a0002c0003t0002g0035 a0002c0003t0002g0040 a0002c0003t0002g0041 a0002c0003t0002g0044 a0002c0003t0002g0045 a0002c0003t0018g0039 a0002c0046t0002g0043 a0002c0048t0002g0037 a0042c0030t0002g0033 a0055c0049t0002g0038 a0056c0047t0002g0036	21	204	0.1029	3	c.169 others(12): Show c.1690_1692dupGAG	p.Glu others(6): Show p.Glu564dup	GOLGA6L1	ENSG00000273976.2	transcript	ENST00000614055.2	protein_coding	8/9	1783/3822	1692/2007	564/668		chr15	TogoVar
GOLGA6L1_chr15_23122066_23141822	23129819	A A	ATCTCCTC others(77): Show ATCTCCTCCTGCTCTCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTC CTGCTCTCGTATCTTCTCCTCCTGCTCCCGTATCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG04115.hp1 HG04115.hp1	a0025 a0025	a0025c0064 a0025c0064	a0025c0064t0017 a0025c0064t0017	a0025c0064t0017g0032 a0025c0064t0017g0032	1	204	0.0049	84	c.163 others(93): Show c.1633_1634insAGATACGGGAGCAGGAGGAGAAGATACGAGAGCAGG AGGAGAAGATACGGGAGCAGGAGGAGAAGATACGAGAGCAGGAGGAGA	p.Glu others(97): Show p.Glu544_Met545insLysIleArgGluGlnGluGluLysIleArgGl uGlnGluGluLysIleArgGluGlnGluGluLysIleArgGluGlnGluG lu	GOLGA6L1	ENSG00000273976.2	transcript	ENST00000614055.2	protein_coding	8/9	1724/3822	1633/2007	545/668		chr15	TogoVar
GOLGA6L1_chr15_23122066_23141822	23129861	T T	TTCTCCTC others(236): Show TTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTC CTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTTTCCTCCTGCTCCC GTATCTTCTCCTCCTGCCTCCACACCTTCTCCTCCTGCTCCCGTATCTTC TCCTCCTGCCTCCACATCTTATCCTCCTGCTCCTGCCTCTTCTCCTCCTC CCATATCTTCTCCTGCTCATGCATCTTCTCTTCCTCCCTCCACA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02258.hp1 HG02572.hp1 HG02965.hp1 others(3): Show HG02258.hp1 HG02572.hp1 HG02965.hp1 HG03130.hp2 NA19043.hp1 NA19043.hp2	a0018 a0046 a0054 others(2): Show a0018 a0046 a0054 a0059 a0070	a0018c0018 a0046c0033 a0054c0050 others(2): Show a0018c0018 a0046c0033 a0054c0050 a0059c0043 a0070c0060	a0018c0018t0006 a0018c0018t0009 a0046c0033t0006 others(3): Show a0018c0018t0006 a0018c0018t0009 a0046c0033t0006 a0054c0050t0009 a0059c0043t0006 a0070c0060t0009	a0018c0018t0006g0086 a0018c0018t0009g0082 a0046c0033t0006g0060 others(3): Show a0018c0018t0006g0086 a0018c0018t0009g0082 a0046c0033t0006g0060 a0054c0050t0009g0087 a0059c0043t0006g0085 a0070c0060t0009g0103	6	204	0.0294	243	c.159 others(252): Show c.1591_1592insTGTGGAGGGAGGAAGAGAAGATGCATGAGCAGGAGA AGATATGGGAGGAGGAGAAGAGGCAGGAGCAGGAGGATAAGATGTGGAGG CAGGAGGAGAAGATACGGGAGCAGGAGGAGAAGGTGTGGAGGCAGGAGGA GAAGATACGGGAGCAGGAGGAAAAGAGGCAGGAGCAGGAGGAGAAGATGT GGAAGCAGGAGGAGAAGATAAGGGAGCAGGAGGAGAAGATACGGGAGCAG GAGGAGA	p.Glu others(256): Show p.Glu530_Lys531insMetTrpArgGluGluGluLysMetHisGluGl nGluLysIleTrpGluGluGluLysArgGlnGluGlnGluAspLysMetT rpArgGlnGluGluLysIleArgGluGlnGluGluLysValTrpArgGln GluGluLysIleArgGluGlnGluGluLysArgGlnGluGlnGluGluLy sMetTrpLysGlnGluGluLysIleArgGluGlnGluGluLysIleArgG luGlnGluGlu	GOLGA6L1	ENSG00000273976.2	transcript	ENST00000614055.2	protein_coding	8/9	1682/3822	1591/2007	531/668		chr15	TogoVar
GOLGA6L1_chr15_23122066_23141822	23129988	T T	TCTC TCTC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00408.hp1 HG00438.hp2 HG00544.hp2 others(31): Show HG00408.hp1 HG00438.hp2 HG00544.hp2 HG00738.hp1 HG00741.hp1 HG01081.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02132.hp1 HG02135.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp2 HG02572.hp1 HG02572.hp2 HG02965.hp1 HG03098.hp1 HG03130.hp2 HG03453.hp1 HG03492.hp2 HG04199.hp1 NA18906.hp1 NA18974.hp1 NA18977.hp2 NA19043.hp1 NA19043.hp2 NA19077.hp2 NA20905.hp1	a0002 a0015 a0018 others(11): Show a0002 a0015 a0018 a0023 a0042 a0046 a0054 a0055 a0056 a0058 a0059 a0063 a0064 a0070	a0002c0003 a0002c0046 a0002c0048 others(13): Show a0002c0003 a0002c0046 a0002c0048 a0015c0013 a0018c0018 a0023c0021 a0042c0030 a0046c0033 a0054c0050 a0055c0049 a0056c0047 a0058c0045 a0059c0043 a0063c0052 a0064c0057 a0070c0060	a0002c0003t0002 a0002c0003t0018 a0002c0046t0002 others(16): Show a0002c0003t0002 a0002c0003t0018 a0002c0046t0002 a0002c0048t0002 a0015c0013t0010 a0018c0018t0006 a0018c0018t0009 a0023c0021t0004 a0023c0021t0023 a0042c0030t0002 a0046c0033t0006 a0054c0050t0009 a0055c0049t0002 a0056c0047t0002 a0058c0045t0007 a0059c0043t0006 a0063c0052t0010 a0064c0057t0024 a0070c0060t0009	a0002c0003t0002g0005 a0002c0003t0002g0015 a0002c0003t0002g0016 others(24): Show a0002c0003t0002g0005 a0002c0003t0002g0015 a0002c0003t0002g0016 a0002c0003t0002g0017 a0002c0003t0002g0035 a0002c0003t0002g0040 a0002c0003t0002g0041 a0002c0003t0002g0044 a0002c0003t0002g0045 a0002c0003t0018g0039 a0002c0046t0002g0043 a0002c0048t0002g0037 a0015c0013t0010g0021 a0018c0018t0006g0086 a0018c0018t0009g0082 a0023c0021t0004g0100 a0023c0021t0023g0098 a0042c0030t0002g0033 a0046c0033t0006g0060 a0054c0050t0009g0087 a0055c0049t0002g0038 a0056c0047t0002g0036 a0058c0045t0007g0083 a0059c0043t0006g0085 a0063c0052t0010g0095 a0064c0057t0024g0101 a0070c0060t0009g0103	34	204	0.1667	3	c.146 others(12): Show c.1462_1464dupGAG	p.Glu others(6): Show p.Glu488dup	GOLGA6L1	ENSG00000273976.2	transcript	ENST00000614055.2	protein_coding	8/9	1555/3822	1464/2007	488/668		chr15	TogoVar
GOLGA6L1_chr15_23122066_23141822	23130350	A A	AGCCTCCG others(35): Show AGCCTCCGCATCTTCTCCTCCTTCTCCCACATCATCTCCTCCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00408.hp2 HG00438.hp1 HG00544.hp1 others(90): Show HG00408.hp2 HG00438.hp1 HG00544.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00735.hp1 HG01069.hp2 HG01109.hp1 HG01175.hp2 HG01261.hp1 HG01358.hp2 HG01361.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01952.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02257.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02622.hp1 HG02683.hp1 HG02698.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02896.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp2 HG03130.hp1 HG03471.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp1 HG03540.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04199.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18945.hp1 NA18945.hp2 NA18960.hp1 NA18960.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp2 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18986.hp1 NA18986.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19009.hp1 NA19009.hp2 NA19068.hp1 NA19068.hp2 NA19077.hp1 NA19088.hp1 NA19088.hp2 NA20905.hp2	a0001 a0005 a0008 others(16): Show a0001 a0005 a0008 a0012 a0013 a0024 a0025 a0026 a0027 a0029 a0031 a0032 a0033 a0034 a0036 a0040 a0062 a0066 a0069	a0001c0001 a0005c0005 a0008c0008 others(16): Show a0001c0001 a0005c0005 a0008c0008 a0012c0012 a0013c0022 a0024c0063 a0025c0064 a0026c0065 a0027c0066 a0029c0068 a0031c0062 a0032c0070 a0033c0061 a0034c0071 a0036c0024 a0040c0027 a0062c0053 a0066c0055 a0069c0059	a0001c0001t0001 a0001c0001t0005 a0001c0001t0012 others(20): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0012 a0001c0001t0014 a0001c0001t0020 a0005c0005t0004 a0008c0008t0001 a0012c0012t0001 a0013c0022t0001 a0024c0063t0004 a0025c0064t0017 a0026c0065t0001 a0027c0066t0001 a0029c0068t0001 a0031c0062t0001 a0032c0070t0025 a0033c0061t0001 a0034c0071t0001 a0036c0024t0022 a0040c0027t0001 a0062c0053t0001 a0066c0055t0001 a0069c0059t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(49): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0005g0029 a0001c0001t0005g0121 a0001c0001t0005g0123 a0001c0001t0005g0132 a0001c0001t0012g0030 a0001c0001t0014g0028 a0001c0001t0020g0127 a0005c0005t0004g0007 a0008c0008t0001g0018 a0008c0008t0001g0056 a0012c0012t0001g0023 a0012c0012t0001g0094 a0013c0022t0001g0107 a0013c0022t0001g0108 a0024c0063t0004g0106 a0025c0064t0017g0032 a0026c0065t0001g0109 a0027c0066t0001g0110 a0029c0068t0001g0119 a0031c0062t0001g0105 a0032c0070t0025g0136 a0033c0061t0001g0104 a0034c0071t0001g0133 a0036c0024t0022g0047 a0040c0027t0001g0050 a0062c0053t0001g0091 a0066c0055t0001g0099 a0069c0059t0001g0102	93	204	0.4559	42	c.106 others(51): Show c.1061_1102dupAGGAGGAGATGATGTGGGAGAAGGAGGAGAAGATGC GGAGGC	p.Gln others(13): Show p.Gln354_Arg367dup	GOLGA6L1	ENSG00000273976.2	transcript	ENST00000614055.2	protein_coding	8/9	1193/3822	1102/2007	368/668		chr15	TogoVar
GOLGA6L1_chr15_23122066_23141822	23130366	C C	CCTCCTTC others(32): Show CCTCCTTCTCCCACATCATCTCCTCCTGCCTCCGCATCTT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01516.hp1 HG01516.hp1	a0030 a0030	a0030c0067 a0030c0067	a0030c0067t0001 a0030c0067t0001	a0030c0067t0001g0130 a0030c0067t0001g0130	1	204	0.0049	39	c.104 others(48): Show c.1048_1086dupAAGATGCGGAGGCAGGAGGAGATGATGTGGGAGAAG GAG	p.Glu others(52): Show p.Glu362_Glu363insLysMetArgArgGlnGluGluMetMetTrpGl uLysGlu	GOLGA6L1	ENSG00000273976.2	transcript	ENST00000614055.2	protein_coding	8/9	1177/3822	1086/2007	362/668		chr15	TogoVar
GOLGA6L1_chr15_23122066_23141822	23130404	T T	TTCTCCTC others(14): Show TTCTCCTCCTTCTCCCACATCA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01243.hp2 HG01243.hp2	a0050 a0050	a0050c0037 a0050c0037	a0050c0037t0015 a0050c0037t0015	a0050c0037t0015g0058 a0050c0037t0015g0058	1	204	0.0049	21	c.102 others(30): Show c.1028_1048dupTGATGTGGGAGAAGGAGGAGA	p.Met others(13): Show p.Met343_Glu349dup	GOLGA6L1	ENSG00000273976.2	transcript	ENST00000614055.2	protein_coding	8/9	1139/3822	1048/2007	350/668		chr15	TogoVar
GOLGA6L1_chr15_23122066_23141822	23136587	G G	GATGGGTA others(29): Show GATGGGTAGGGAGGTGGGGATGGGTAGGGAGGTGGGC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02647.hp1 HG02647.hp1	a0038 a0038	a0038c0038 a0038c0038	a0038c0038t0003 a0038c0038t0003	a0038c0038t0003g0063 a0038c0038t0003g0063	1	204	0.0049	36	c.144 others(43): Show c.144_145insGCCCACCTCCCTACCCATCCCCACCTCCCTACCCAT	p.His others(47): Show p.His48_Pro49insAlaHisLeuProThrHisProHisLeuProThrH is	GOLGA6L1	ENSG00000273976.2	transcript	ENST00000614055.2	protein_coding	1/9	235/3822	144/2007	48/668		chr15	TogoVar
GOLGA6L1_chr15_23122066_23141822	23136599	G G	GGTGGGGA others(11): Show GGTGGGGATGGGTAGGGAC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02451.hp2 HG02809.hp1 HG02451.hp2 HG02809.hp1	a0013 a0013	a0013c0022 a0013c0022	a0013c0022t0001 a0013c0022t0001	a0013c0022t0001g0107 a0013c0022t0001g0108 a0013c0022t0001g0107 a0013c0022t0001g0108	2	204	0.0098	18	c.132 others(25): Show c.132_133insGTCCCTACCCATCCCCAC	p.His others(29): Show p.His44_Leu45insValProThrHisProHis	GOLGA6L1	ENSG00000273976.2	transcript	ENST00000614055.2	protein_coding	1/9	223/3822	132/2007	44/668		chr15	TogoVar
GOLGA6L1_chr15_23122066_23141822	23136605	G G	GATGGGTA others(11): Show GATGGGTAGGGAGGTGGGC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18906.hp2 NA18906.hp2	a0037 a0037	a0037c0041 a0037c0041	a0037c0041t0003 a0037c0041t0003	a0037c0041t0003g0076 a0037c0041t0003g0076	1	204	0.0049	18	c.126 others(25): Show c.126_127insGCCCACCTCCCTACCCAT	p.His others(29): Show p.His42_Pro43insAlaHisLeuProThrHis	GOLGA6L1	ENSG00000273976.2	transcript	ENST00000614055.2	protein_coding	1/9	217/3822	126/2007	42/668		chr15	TogoVar
GOLGA6L22_chr15_22453903_22474226	22459036	C C	CTCCCTAC others(137): Show CTCCCTACCCATCCCCACCTCCCTACCCATCCCCACCTCCCTACCCATCC CCACGTCCCTACCCATCCCCACCTCCCTACCCATCCCCACCTCCCTACCC ATCCCCACCTCCCTACCCATCCCCACCTCCCTACCCATCCCCACG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18961.hp1 NA18961.hp1	a0046 a0046	a0046c0060 a0046c0060	a0046c0060t0001 a0046c0060t0001	a0046c0060t0001g0001 a0046c0060t0001g0001	1	226	0.0044	144	c.96_ others(149): Show c.96_97insGTCCCTACCCATCCCCACCTCCCTACCCATCCCCACCTCC CTACCCATCCCCACCTCCCTACCCATCCCCACCTCCCTACCCATCCCCAC GTCCCTACCCATCCCCACCTCCCTACCCATCCCCACCTCCCTACCCATCC CCAC	p.His others(155): Show p.His32_Leu33insValProThrHisProHisLeuProThrHisProH isLeuProThrHisProHisLeuProThrHisProHisLeuProThrHis ProHisValProThrHisProHisLeuProThrHisProHisLeuProTh rHisProHis	GOLGA6L22	ENSG00000277865.6	transcript	ENST00000622895.2	protein_coding	1/9	188/4401	97/2565	33/854	INFO_REALIGN_3_PRIME	chr15	TogoVar
GOLGA6L22_chr15_22453903_22474226	22465785	C C	CAGG CAGG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00738.hp1 HG01891.hp2 HG03453.hp2 HG00738.hp1 HG01891.hp2 HG03453.hp2	a0016 a0048 a0049 a0016 a0048 a0049	a0016c0068 a0048c0062 a0049c0063 a0016c0068 a0048c0062 a0049c0063	a0016c0068t0011 a0048c0062t0004 a0049c0063t0003 a0016c0068t0011 a0048c0062t0004 a0049c0063t0003	a0016c0068t0011g0056 a0048c0062t0004g0057 a0049c0063t0003g0053 a0016c0068t0011g0056 a0048c0062t0004g0057 a0049c0063t0003g0053	3	226	0.0133	3	c.152 others(12): Show c.1528_1530dupGAG	p.Glu others(6): Show p.Glu510dup	GOLGA6L22	ENSG00000277865.6	transcript	ENST00000622895.2	protein_coding	8/9	1622/4401	1531/2565	511/854	INFO_REALIGN_3_PRIME	chr15	TogoVar
GOLGA6L22_chr15_22453903_22474226	22465850	G G	GGAGAAGG others(362): Show GGAGAAGGTGTGGAGGCAGGAGGAGAAGATACGGGAGCAGGAGGAAAAGA GGCAGGAGCAGGAGGAGAAGATGTGGAAGCAGGAGGAGAAGATAAGGGAG CAGGAGGAGAAGATACGGGAGCAGGAGGAGAAGATGCGGAGGCAGGAGGA GATGATGTGGGAGAAGGAGGAGAAGATGCGGAGGCAGGAGGAGATGATGT GGGAGAAGGAGGAGAAGATACGGGAGCTGGAAGAGAAGATGCACGAGCAG GAGAAGATACGGGAGCAGGAAGAGAAGAGGCAGGAGGAGGAGAAGATACG CGAGCAGGAGAAGAGGCAGGAGCAGGAGGCGAAGATGTGGAGGCAGGAGG AGAAGATACGGGAGCAGGAA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02040.hp2 HG02040.hp2	a0042 a0042	a0042c0055 a0042c0055	a0042c0055t0003 a0042c0055t0003	a0042c0055t0003g0059 a0042c0055t0003g0059	1	226	0.0044	369	c.159 others(378): Show c.1596_1597insGTGTGGAGGCAGGAGGAGAAGATACGGGAGCAGGAG GAAAAGAGGCAGGAGCAGGAGGAGAAGATGTGGAAGCAGGAGGAGAAGAT AAGGGAGCAGGAGGAGAAGATACGGGAGCAGGAGGAGAAGATGCGGAGGC AGGAGGAGATGATGTGGGAGAAGGAGGAGAAGATGCGGAGGCAGGAGGAG ATGATGTGGGAGAAGGAGGAGAAGATACGGGAGCTGGAAGAGAAGATGCA CGAGCAGGAGAAGATACGGGAGCAGGAAGAGAAGAGGCAGGAGGAGGAGA AGATACGCGAGCAGGAGAAGAGGCAGGAGCAGGAGGCGAAGATGTGGAGG CAGGAGGAGAAGATACGGGAGCAGGAAGAGAAG	p.Lys others(382): Show p.Lys532_Ile533insValTrpArgGlnGluGluLysIleArgGluGl nGluGluLysArgGlnGluGlnGluGluLysMetTrpLysGlnGluGluL ysIleArgGluGlnGluGluLysIleArgGluGlnGluGluLysMetArg ArgGlnGluGluMetMetTrpGluLysGluGluLysMetArgArgGlnGl uGluMetMetTrpGluLysGluGluLysIleArgGluLeuGluGluLysM etHisGluGlnGluLysIleArgGluGlnGluGluLysArgGlnGluGlu GluLysIleArgGluGlnGluLysArgGlnGluGlnGluAlaLysMetTr pArgGlnGluGluLysIleArgGluGlnGluGluLys	GOLGA6L22	ENSG00000277865.6	transcript	ENST00000622895.2	protein_coding	8/9	1688/4401	1597/2565	533/854	INFO_REALIGN_3_PRIME	chr15	TogoVar
GOLGA6L22_chr15_22453903_22474226	22465961	G G	GCAGGAGG others(116): Show GCAGGAGGAGAAGATAAGGGAGCAGGAGGAGATATGGAGGCAAAAGGAGA AGATGCATGAGCAGGAGGAGAAGATACGGAAGCAGGAGGAGAAGGTGTGG AGGCAGGAGGAGAAGATGCACGAC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02040.hp2 HG02040.hp2	a0042 a0042	a0042c0055 a0042c0055	a0042c0055t0003 a0042c0055t0003	a0042c0055t0003g0059 a0042c0055t0003g0059	1	226	0.0044	123	c.171 others(132): Show c.1716_1717insAGGGAGCAGGAGGAGATATGGAGGCAAAAGGAGAAG ATGCATGAGCAGGAGGAGAAGATACGGAAGCAGGAGGAGAAGGTGTGGAG GCAGGAGGAGAAGATGCACGACCAGGAGGAGAAGATA	p.Arg others(136): Show p.Arg573_Glu574insGluGlnGluGluIleTrpArgGlnLysGluLy sMetHisGluGlnGluGluLysIleArgLysGlnGluGluLysValTrpA rgGlnGluGluLysMetHisAspGlnGluGluLysIleArg	GOLGA6L22	ENSG00000277865.6	transcript	ENST00000622895.2	protein_coding	8/9	1808/4401	1717/2565	573/854	INFO_REALIGN_3_PRIME	chr15	TogoVar
GOLGA6L22_chr15_22453903_22474226	22466085	G G	GAGCAGGA others(77): Show GAGCAGGAGGAGAAGGTGTGGAGGCAGGAGGAGAAGATACGGGAGCAGGA GGAAAAGAGGCAGGAGCAGGAGGAGAAGATGTGGA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02040.hp2 HG02040.hp2	a0042 a0042	a0042c0055 a0042c0055	a0042c0055t0003 a0042c0055t0003	a0042c0055t0003g0059 a0042c0055t0003g0059	1	226	0.0044	84	c.183 others(93): Show c.1839_1840insGTGTGGAGGCAGGAGGAGAAGATACGGGAGCAGGAG GAAAAGAGGCAGGAGCAGGAGGAGAAGATGTGGAAGCAGGAGGAGAAG	p.Lys others(97): Show p.Lys613_Ile614insValTrpArgGlnGluGluLysIleArgGluGl nGluGluLysArgGlnGluGlnGluGluLysMetTrpLysGlnGluGluL ys	GOLGA6L22	ENSG00000277865.6	transcript	ENST00000622895.2	protein_coding	8/9	1931/4401	1840/2565	614/854	INFO_REALIGN_3_PRIME	chr15	TogoVar
GOLGA6L22_chr15_22453903_22474226	22466394	T T	TGGGAGCA others(140): Show TGGGAGCAGGAAGAGAAGATGCAAGAACAGGAGGAGAAGATGCGGAGGCA GGAGGAGAAGATAAGGGAGCAGGAGAAGAAGATACGGGAGCAGGAGGAGA AGATACGAGAGCAGGAGGAGATGATGCAGGAACAGGAAGAGAAGATGG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00323.hp1 HG00323.hp1	a0029 a0029	a0029c0048 a0029c0048	a0029c0048t0001 a0029c0048t0001	a0029c0048t0001g0001 a0029c0048t0001g0001	1	226	0.0044	147	c.228 others(156): Show c.2281_2427dupGGGGAGCAGGAAGAGAAGATGCAAGAACAGGAGGAG AAGATGCGGAGGCAGGAGGAGAAGATAAGGGAGCAGGAGAAGAAGATACG GGAGCAGGAGGAGAAGATACGAGAGCAGGAGGAGATGATGCAGGAACAGG AAGAGAAGATG	p.Gly others(13): Show p.Gly761_Met809dup	GOLGA6L22	ENSG00000277865.6	transcript	ENST00000622895.2	protein_coding	8/9	2519/4401	2428/2565	810/854	INFO_REALIGN_3_PRIME	chr15	TogoVar

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Search Results (Total: 1973 hits)