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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Select column to sort.

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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
FZD8_chr10_35633247_35647296	35640327	CCCGCGCC others(8): Show CCCGCGCCCGCGCCCG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00673.hp2 HG00673.hp2	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0004 a0005c0013t0004	a0005c0013t0004g0000 a0005c0013t0004g0000	1	404	0.0025	-15	c.108 others(24): Show c.1088_1102delCGGGCGCGGGCGCGG	p.Ala others(13): Show p.Ala363_Ala367del	FZD8	ENSG00000177283.8	transcript	ENST00000374694.3	protein_coding	1/1	1969/4050	1088/2085	363/694		chr10	TogoVar
GAGE12D_chrX_49536733_49554094	49542911	CTAT CTAT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00544.hp2 HG01175.hp2 HG01257.hp2 others(12): Show HG00544.hp2 HG01175.hp2 HG01257.hp2 HG01975.hp2 HG02015.hp1 HG02273.hp1 HG02922.hp1 HG02922.hp2 HG03704.hp1 NA18983.hp1 NA19065.hp2 NA19084.hp2 NA19090.hp2 NA19240.hp1 NA19240.hp2	a0002 a0005 a0008 a0002 a0005 a0008	a0002c0002 a0005c0005 a0008c0008 a0002c0002 a0005c0005 a0008c0008	a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 others(4): Show a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0005c0005t0001 a0005c0005t0003 a0005c0005t0005 a0008c0008t0004	a0002c0002t0001g0050 a0002c0002t0003g0001 a0002c0002t0003g0013 others(9): Show a0002c0002t0001g0050 a0002c0002t0003g0001 a0002c0002t0003g0013 a0002c0002t0004g0001 a0002c0002t0004g0004 a0002c0002t0004g0010 a0002c0002t0004g0011 a0002c0002t0004g0012 a0005c0005t0001g0014 a0005c0005t0003g0017 a0005c0005t0005g0015 a0008c0008t0004g0001	15	72	0.2083	-3	c.29_ others(8): Show c.29_31delATT	p.Tyr others(5): Show p.Tyr10del	GAGE12D	ENSG00000227488.3	transcript	ENST00000405679.4	protein_coding	2/5	145/561	29/354	10/117	INFO_REALIGN_3_PRIME	chrX	TogoVar
GAGE12E_chrX_49546289_49563645	49552466	CCTA CCTA	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02451.hp2 HG02451.hp2	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0007 a0005c0013t0007	a0005c0013t0007g0069 a0005c0013t0007g0069	1	100	0.0100	-3	c.24_ others(8): Show c.24_26delCTA	p.Tyr others(4): Show p.Tyr9del	GAGE12E	ENSG00000216649.5	transcript	ENST00000381698.5	protein_coding	2/5	140/560	24/354	8/117		chrX	TogoVar
GAGE12E_chrX_49546289_49563645	49552467	CTAT CTAT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00280.hp1 HG00544.hp2 HG00642.hp1 others(12): Show HG00280.hp1 HG00544.hp2 HG00642.hp1 HG01106.hp1 HG02109.hp1 HG02109.hp2 HG02258.hp1 HG03041.hp1 HG03139.hp1 HG03195.hp1 NA18978.hp1 NA18981.hp1 NA18992.hp1 NA19054.hp2 NA19240.hp1	a0005 a0006 a0009 a0005 a0006 a0009	a0005c0006 a0006c0005 a0009c0009 a0005c0006 a0006c0005 a0009c0009	a0005c0006t0001 a0005c0006t0003 a0005c0006t0005 others(4): Show a0005c0006t0001 a0005c0006t0003 a0005c0006t0005 a0006c0005t0001 a0006c0005t0002 a0006c0005t0004 a0009c0009t0001	a0005c0006t0001g0011 a0005c0006t0001g0029 a0005c0006t0001g0030 others(12): Show a0005c0006t0001g0011 a0005c0006t0001g0029 a0005c0006t0001g0030 a0005c0006t0001g0072 a0005c0006t0003g0018 a0005c0006t0003g0019 a0005c0006t0005g0020 a0006c0005t0001g0022 a0006c0005t0001g0023 a0006c0005t0001g0024 a0006c0005t0001g0026 a0006c0005t0001g0027 a0006c0005t0002g0025 a0006c0005t0004g0070 a0009c0009t0001g0028	15	100	0.1500	-3	c.29_ others(8): Show c.29_31delATT	p.Tyr others(5): Show p.Tyr10del	GAGE12E	ENSG00000216649.5	transcript	ENST00000381698.5	protein_coding	2/5	145/560	29/354	10/117	INFO_REALIGN_3_PRIME	chrX	TogoVar
GAGE12F_chrX_49555842_49573205	49562020	CTAT CTAT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00280.hp1 HG00544.hp2 HG00642.hp1 others(21): Show HG00280.hp1 HG00544.hp2 HG00642.hp1 HG01361.hp2 HG02109.hp1 HG02165.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02738.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG04115.hp1 NA18747.hp1 NA18965.hp1 NA18974.hp1 NA18978.hp1 NA18991.hp2 NA19012.hp1 NA19084.hp1 NA19084.hp2 NA21309.hp2	a0003 a0004 a0007 others(1): Show a0003 a0004 a0007 a0011	a0003c0003 a0004c0004 a0007c0007 others(1): Show a0003c0003 a0004c0004 a0007c0007 a0011c0011	a0003c0003t0001 a0003c0003t0004 a0003c0003t0005 others(4): Show a0003c0003t0001 a0003c0003t0004 a0003c0003t0005 a0004c0004t0001 a0004c0004t0003 a0007c0007t0001 a0011c0011t0007	a0003c0003t0001g0008 a0003c0003t0001g0066 a0003c0003t0001g0067 others(20): Show a0003c0003t0001g0008 a0003c0003t0001g0066 a0003c0003t0001g0067 a0003c0003t0001g0075 a0003c0003t0001g0076 a0003c0003t0001g0077 a0003c0003t0001g0078 a0003c0003t0004g0020 a0003c0003t0005g0019 a0003c0003t0005g0021 a0004c0004t0001g0016 a0004c0004t0001g0024 a0004c0004t0001g0025 a0004c0004t0001g0026 a0004c0004t0001g0031 a0004c0004t0001g0086 a0004c0004t0003g0027 a0004c0004t0003g0028 a0004c0004t0003g0029 a0007c0007t0001g0003 a0007c0007t0001g0064 a0007c0007t0001g0065 a0011c0011t0007g0030	24	99	0.2424	-3	c.29_ others(8): Show c.29_31delATT	p.Tyr others(5): Show p.Tyr10del	GAGE12F	ENSG00000236362.9	transcript	ENST00000440137.2	protein_coding	2/5	145/561	29/354	10/117	INFO_REALIGN_3_PRIME	chrX	TogoVar
GAGE12G_chrX_49565400_49582754	49571578	CTAT CTAT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00423.hp1 HG00423.hp2 HG00558.hp2 others(57): Show HG00423.hp1 HG00423.hp2 HG00558.hp2 HG00733.hp2 HG01106.hp1 HG01168.hp1 HG01168.hp2 HG01192.hp1 HG01358.hp1 HG01361.hp1 HG01516.hp2 HG01891.hp1 HG01978.hp1 HG01978.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02523.hp1 HG02523.hp2 HG02698.hp1 HG02897.hp2 HG02922.hp2 HG03540.hp1 HG03710.hp1 HG04204.hp1 NA18522.hp1 NA18747.hp1 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18960.hp1 NA18963.hp1 NA18965.hp1 NA18972.hp1 NA18972.hp2 NA18981.hp1 NA18985.hp1 NA18987.hp1 NA18992.hp1 NA18992.hp2 NA19005.hp1 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19063.hp1 NA19065.hp1 NA19065.hp2 NA19074.hp2 NA19075.hp1 NA19076.hp1 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0008	a0001c0001 a0002c0002 a0005c0005 others(1): Show a0001c0001 a0002c0002 a0005c0005 a0008c0008	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0003 a0002c0002t0008 a0005c0005t0001 a0008c0008t0012	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(45): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0042 a0001c0001t0002g0004 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0029 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0036 a0001c0001t0002g0049 a0002c0002t0001g0001 a0002c0002t0001g0006 a0002c0002t0001g0008 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0051 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0003g0028 a0002c0002t0003g0063 a0002c0002t0008g0009 a0005c0005t0001g0031 a0005c0005t0001g0035 a0005c0005t0001g0050 a0005c0005t0001g0077 a0008c0008t0012g0076	60	95	0.6316	-3	c.29_ others(8): Show c.29_31delATT	p.Tyr others(5): Show p.Tyr10del	GAGE12G	ENSG00000215269.6	transcript	ENST00000445148.2	protein_coding	2/5	145/561	29/354	10/117	INFO_REALIGN_3_PRIME	chrX	TogoVar
GAGE12H_chrX_49574949_49592301	49581127	CTAT CTAT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00323.hp1 HG00438.hp1 HG00558.hp2 others(81): Show HG00323.hp1 HG00438.hp1 HG00558.hp2 HG00735.hp1 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01257.hp1 HG01257.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01934.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02129.hp1 HG02257.hp2 HG02293.hp1 HG02293.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02723.hp2 HG02738.hp1 HG02922.hp2 HG02970.hp1 HG03239.hp1 HG03239.hp2 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03710.hp1 HG03927.hp2 HG04204.hp1 NA18522.hp1 NA18942.hp1 NA18942.hp2 NA18947.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp2 NA18965.hp1 NA18968.hp1 NA18968.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18986.hp1 NA18988.hp1 NA18993.hp1 NA18993.hp2 NA18998.hp1 NA18998.hp2 NA19005.hp1 NA19010.hp1 NA19010.hp2 NA19060.hp1 NA19063.hp1 NA19070.hp1 NA19074.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19087.hp1 NA19087.hp2 NA19091.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp1	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0008 a0009 a0010 a0011	a0001c0001 a0002c0002 a0004c0004 others(4): Show a0001c0001 a0002c0002 a0004c0004 a0008c0010 a0009c0009 a0010c0008 a0011c0011	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0009 a0004c0004t0001 a0008c0010t0010 a0009c0009t0011 a0010c0008t0004 a0011c0011t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 others(59): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0003g0004 a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0071 a0001c0001t0003g0079 a0001c0001t0008g0018 a0002c0002t0001g0011 a0002c0002t0001g0017 a0002c0002t0001g0046 a0002c0002t0001g0082 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0002g0001 a0002c0002t0002g0006 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0026 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0047 a0002c0002t0002g0055 a0002c0002t0004g0010 a0002c0002t0004g0073 a0002c0002t0004g0075 a0002c0002t0004g0076 a0002c0002t0004g0077 a0002c0002t0004g0089 a0002c0002t0005g0019 a0002c0002t0005g0020 a0002c0002t0005g0022 a0002c0002t0006g0021 a0002c0002t0009g0001 a0004c0004t0001g0028 a0004c0004t0001g0040 a0004c0004t0001g0045 a0004c0004t0001g0048 a0004c0004t0001g0074 a0008c0010t0010g0023 a0009c0009t0011g0090 a0010c0008t0004g0078 a0011c0011t0001g0064	84	116	0.7241	-3	c.29_ others(8): Show c.29_31delATT	p.Tyr others(5): Show p.Tyr10del	GAGE12H	ENSG00000224902.6	transcript	ENST00000381722.2	protein_coding	2/5	145/561	29/354	10/117	INFO_REALIGN_3_PRIME	chrX	TogoVar
GAGE12J_chrX_49317037_49334384	49323217	CTAT CTAT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00280.hp1 HG02622.hp1 HG02738.hp1 HG00280.hp1 HG02622.hp1 HG02738.hp1	a0007 a0013 a0007 a0013	a0007c0007 a0013c0009 a0007c0007 a0013c0009	a0007c0007t0003 a0013c0009t0005 a0007c0007t0003 a0013c0009t0005	a0007c0007t0003g0043 a0007c0007t0003g0044 a0013c0009t0005g0042 a0007c0007t0003g0043 a0007c0007t0003g0044 a0013c0009t0005g0042	3	194	0.0155	-3	c.29_ others(8): Show c.29_31delATT	p.Tyr others(5): Show p.Tyr10del	GAGE12J	ENSG00000224659.3	transcript	ENST00000442437.3	protein_coding	2/5	145/561	29/354	10/117	INFO_REALIGN_3_PRIME	chrX	TogoVar
GAGE13_chrX_49326582_49343949	49332761	CTAT CTAT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00408.hp2 HG01081.hp1 HG01099.hp1 others(61): Show HG00408.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01167.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01361.hp2 HG01433.hp1 HG01928.hp1 HG01952.hp1 HG01978.hp1 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02258.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02809.hp1 HG02809.hp2 HG02922.hp1 HG02922.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03654.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG04115.hp1 NA18747.hp1 NA18940.hp1 NA18946.hp1 NA18948.hp1 NA18952.hp1 NA18963.hp1 NA18963.hp2 NA18969.hp2 NA18989.hp1 NA18995.hp1 NA18998.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19062.hp1 NA19088.hp1 NA19089.hp1 NA20129.hp1 NA20129.hp2 NA20805.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0007	a0001c0001 a0002c0002 a0004c0004 others(1): Show a0001c0001 a0002c0002 a0004c0004 a0007c0007	a0001c0001t0002 a0001c0001t0005 a0002c0002t0001 others(5): Show a0001c0001t0002 a0001c0001t0005 a0002c0002t0001 a0002c0002t0006 a0002c0002t0007 a0004c0004t0001 a0004c0004t0002 a0007c0007t0001	a0001c0001t0002g0001 a0001c0001t0002g0007 a0001c0001t0002g0009 others(37): Show a0001c0001t0002g0001 a0001c0001t0002g0007 a0001c0001t0002g0009 a0001c0001t0002g0026 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0047 a0001c0001t0005g0006 a0001c0001t0005g0027 a0002c0002t0001g0002 a0002c0002t0001g0005 a0002c0002t0001g0012 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0032 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0006g0011 a0002c0002t0007g0020 a0004c0004t0001g0014 a0004c0004t0001g0019 a0004c0004t0001g0023 a0004c0004t0001g0024 a0004c0004t0001g0025 a0004c0004t0001g0053 a0004c0004t0001g0054 a0004c0004t0001g0059 a0004c0004t0002g0030 a0004c0004t0002g0031 a0004c0004t0002g0049 a0007c0007t0001g0002	64	93	0.6882	-3	c.29_ others(8): Show c.29_31delATT	p.Tyr others(5): Show p.Tyr10del	GAGE13	ENSG00000274274.2	transcript	ENST00000612958.2	protein_coding	2/5	145/561	29/354	10/117	INFO_REALIGN_3_PRIME	chrX	TogoVar
GAGE1_chrX_49594020_49613538	49600198	CTAT CTAT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(103): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00408.hp1 HG00423.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG01071.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01346.hp2 HG01433.hp1 HG01515.hp1 HG01517.hp1 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02040.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02135.hp2 HG02148.hp1 HG02451.hp1 HG02622.hp1 HG02683.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG03017.hp1 HG03225.hp1 HG03490.hp1 HG03516.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp1 NA18612.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18945.hp1 NA18950.hp1 NA18952.hp1 NA18953.hp1 NA18956.hp1 NA18957.hp2 NA18959.hp1 NA18961.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18969.hp2 NA18977.hp1 NA18979.hp1 NA18981.hp1 NA18984.hp1 NA18985.hp1 NA18989.hp1 NA18994.hp1 NA18995.hp1 NA18998.hp2 NA19000.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19010.hp1 NA19056.hp1 NA19058.hp1 NA19059.hp1 NA19064.hp1 NA19067.hp1 NA19068.hp1 NA19074.hp2 NA19077.hp2 NA19081.hp2 NA19083.hp1 NA19086.hp1 NA19087.hp2 NA20805.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0002 a0003 a0006 a0002 a0003 a0006	a0002c0002 a0003c0003 a0006c0006 a0002c0002 a0003c0003 a0006c0006	a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 others(9): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0002t0009 a0002c0002t0014 a0002c0002t0015 a0002c0002t0016 a0002c0002t0023 a0003c0003t0002 a0003c0003t0003 a0003c0003t0024 a0006c0006t0011	a0002c0002t0002g0002 a0002c0002t0002g0009 a0002c0002t0002g0013 others(56): Show a0002c0002t0002g0002 a0002c0002t0002g0009 a0002c0002t0002g0013 a0002c0002t0002g0015 a0002c0002t0002g0029 a0002c0002t0002g0041 a0002c0002t0002g0060 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0071 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0127 a0002c0002t0002g0129 a0002c0002t0003g0003 a0002c0002t0003g0012 a0002c0002t0003g0016 a0002c0002t0003g0017 a0002c0002t0003g0027 a0002c0002t0003g0028 a0002c0002t0003g0037 a0002c0002t0003g0038 a0002c0002t0003g0039 a0002c0002t0003g0040 a0002c0002t0003g0042 a0002c0002t0003g0043 a0002c0002t0003g0044 a0002c0002t0003g0045 a0002c0002t0003g0046 a0002c0002t0003g0047 a0002c0002t0003g0048 a0002c0002t0003g0049 a0002c0002t0003g0051 a0002c0002t0003g0052 a0002c0002t0003g0053 a0002c0002t0003g0055 a0002c0002t0003g0056 a0002c0002t0003g0057 a0002c0002t0003g0058 a0002c0002t0003g0072 a0002c0002t0003g0132 a0002c0002t0005g0003 a0002c0002t0005g0138 a0002c0002t0009g0002 a0002c0002t0014g0027 a0002c0002t0015g0137 a0002c0002t0016g0054 a0002c0002t0023g0002 a0003c0003t0002g0002 a0003c0003t0002g0070 a0003c0003t0002g0128 a0003c0003t0003g0050 a0003c0003t0024g0139 a0006c0006t0011g0063	106	311	0.3408	-3	c.29_ others(8): Show c.29_31delATT	p.Tyr others(5): Show p.Tyr10del	GAGE1	ENSG00000205777.19	transcript	ENST00000381700.11	protein_coding	2/5	145/2993	29/354	10/117	INFO_REALIGN_3_PRIME	chrX	TogoVar
GARIN2_chr14_67184440_67228940	67198163	TGAA TGAA	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00280.hp1 HG00621.hp1 HG01123.hp2 others(24): Show HG00280.hp1 HG00621.hp1 HG01123.hp2 HG01243.hp2 HG01496.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01978.hp1 HG02040.hp1 HG02109.hp2 HG02145.hp1 HG02257.hp2 HG02273.hp1 HG02280.hp2 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02717.hp2 HG02922.hp1 HG03041.hp2 HG03471.hp2 HG03516.hp1 HG03540.hp1 HG03654.hp1 NA18522.hp2 NA18993.hp1	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0001 a0002c0004t0001 a0002c0003t0001 a0002c0004t0001	a0002c0003t0001g0033 a0002c0003t0001g0034 a0002c0003t0001g0084 others(21): Show a0002c0003t0001g0033 a0002c0003t0001g0034 a0002c0003t0001g0084 a0002c0003t0001g0205 a0002c0003t0001g0207 a0002c0003t0001g0208 a0002c0003t0001g0209 a0002c0003t0001g0210 a0002c0003t0001g0211 a0002c0003t0001g0212 a0002c0003t0001g0214 a0002c0003t0001g0215 a0002c0003t0001g0216 a0002c0003t0001g0220 a0002c0003t0001g0221 a0002c0003t0001g0222 a0002c0003t0001g0223 a0002c0003t0001g0226 a0002c0003t0001g0228 a0002c0004t0001g0035 a0002c0004t0001g0109 a0002c0004t0001g0118 a0002c0004t0001g0119 a0002c0004t0001g0225	27	332	0.0813	-3	c.9_1 others(7): Show c.9_11delGAA	p.Lys others(4): Show p.Lys3del	GARIN2	ENSG00000172717.17	transcript	ENST00000696955.1	protein_coding	3/8	252/1620	9/1254	3/417	INFO_REALIGN_3_PRIME	chr14	TogoVar
GARIN5B_chr19_55349908_55368260	55358511	GGCTCCTT others(17): Show GGCTCCTTCATCTCGCCCCATGGCT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(299): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02145.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18977.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19054.hp1 NA19054.hp2 NA19058.hp2 NA19060.hp2 NA19064.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 others(27): Show a0001 a0003 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0016 a0017 a0018 a0019 a0020 a0022 a0025 a0026 a0027 a0028 a0029 a0030 a0031 a0032 a0033 a0034 a0035 a0036 a0037	a0001c0001 a0001c0014 a0001c0028 others(31): Show a0001c0001 a0001c0014 a0001c0028 a0001c0030 a0003c0002 a0005c0007 a0006c0006 a0007c0010 a0008c0009 a0009c0008 a0010c0013 a0010c0039 a0011c0011 a0012c0012 a0013c0016 a0016c0018 a0017c0042 a0018c0041 a0019c0040 a0020c0034 a0022c0037 a0025c0033 a0026c0020 a0027c0022 a0028c0032 a0029c0024 a0030c0026 a0031c0029 a0032c0027 a0033c0025 a0034c0031 a0035c0023 a0036c0021 a0037c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(45): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0014t0001 a0001c0014t0003 a0001c0028t0001 a0001c0030t0001 a0003c0002t0001 a0003c0002t0002 a0003c0002t0003 a0005c0007t0001 a0005c0007t0002 a0006c0006t0001 a0006c0006t0002 a0007c0010t0001 a0007c0010t0002 a0008c0009t0004 a0008c0009t0008 a0009c0008t0002 a0009c0008t0003 a0010c0013t0002 a0010c0039t0002 a0011c0011t0001 a0012c0012t0001 a0012c0012t0002 a0013c0016t0001 a0013c0016t0002 a0016c0018t0001 a0017c0042t0001 a0018c0041t0002 a0019c0040t0002 a0020c0034t0001 a0022c0037t0001 a0025c0033t0002 a0026c0020t0007 a0027c0022t0001 a0028c0032t0002 a0029c0024t0001 a0030c0026t0002 a0031c0029t0002 a0032c0027t0001 a0033c0025t0001 a0034c0031t0002 a0035c0023t0001 a0036c0021t0001 a0037c0019t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(113): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0057 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0131 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0016 a0001c0001t0002g0023 a0001c0001t0002g0028 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0069 a0001c0001t0002g0077 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0085 a0001c0001t0002g0092 a0001c0001t0002g0095 a0001c0001t0002g0101 a0001c0001t0002g0130 a0001c0001t0002g0132 a0001c0001t0003g0024 a0001c0001t0003g0062 a0001c0001t0005g0042 a0001c0001t0006g0134 a0001c0014t0001g0058 a0001c0014t0003g0073 a0001c0028t0001g0049 a0001c0030t0001g0089 a0003c0002t0001g0009 a0003c0002t0001g0017 a0003c0002t0001g0104 a0003c0002t0001g0106 a0003c0002t0002g0032 a0003c0002t0002g0102 a0003c0002t0002g0103 a0003c0002t0002g0105 a0003c0002t0003g0033 a0005c0007t0001g0040 a0005c0007t0001g0126 a0005c0007t0001g0128 a0005c0007t0002g0041 a0005c0007t0002g0129 a0006c0006t0001g0010 a0006c0006t0002g0013 a0007c0010t0001g0038 a0007c0010t0001g0108 a0007c0010t0001g0111 a0007c0010t0001g0118 a0007c0010t0002g0121 a0008c0009t0004g0012 a0008c0009t0004g0137 a0008c0009t0008g0136 a0009c0008t0002g0029 a0009c0008t0002g0030 a0009c0008t0003g0097 a0009c0008t0003g0098 a0010c0013t0002g0039 a0010c0013t0002g0124 a0010c0039t0002g0123 a0011c0011t0001g0020 a0011c0011t0001g0048 a0012c0012t0001g0021 a0012c0012t0002g0075 a0013c0016t0001g0045 a0013c0016t0002g0046 a0016c0018t0001g0043 a0017c0042t0001g0133 a0018c0041t0002g0127 a0019c0040t0002g0125 a0020c0034t0001g0107 a0022c0037t0001g0044 a0025c0033t0002g0094 a0026c0020t0007g0135 a0027c0022t0001g0056 a0028c0032t0002g0052 a0029c0024t0001g0071 a0030c0026t0002g0072 a0031c0029t0002g0088 a0032c0027t0001g0074 a0033c0025t0001g0096 a0034c0031t0002g0093 a0035c0023t0001g0070 a0036c0021t0001g0055 a0037c0019t0002g0047	302	356	0.8483	-24	c.233 others(33): Show c.2333_2356delAGCCATGGGGCGAGATGAAGGAGC	p.Gln others(13): Show p.Gln778_Glu785del	GARIN5B	ENSG00000180043.11	transcript	ENST00000424985.3	protein_coding	9/11	2550/3191	2333/2769	778/922		chr19	TogoVar
GARRE1_chr19_34249554_34360566	34352848	ACCCCACC others(5): Show ACCCCACCCCAGC	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01168.hp1 HG01169.hp1 HG02602.hp1 HG01168.hp1 HG01169.hp1 HG02602.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0155 a0002c0005t0003g0156 a0002c0005t0003g0157 a0002c0005t0003g0155 a0002c0005t0003g0156 a0002c0005t0003g0157	3	326	0.0092	-12	c.311 others(21): Show c.3116_3127delAGCCCCCACCCC	p.Gln others(15): Show p.Gln1039_Pro1042del	GARRE1	ENSG00000166398.14	transcript	ENST00000299505.8	protein_coding	14/14	3972/6680	3116/3213	1039/1070	INFO_REALIGN_3_PRIME	chr19	TogoVar
GATAD1_chr7_92442482_92465075	92447840	CGGCGCGG others(8): Show CGGCGCGGGCAGCGGG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02155.hp2 HG02155.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0034 a0004c0006t0001g0034	1	330	0.0030	-15	c.117 others(22): Show c.117_131delGGGCAGCGGGGGCGC	p.Gly others(11): Show p.Gly40_Ala44del	GATAD1	ENSG00000157259.8	transcript	ENST00000287957.5	protein_coding	1/5	365/4571	117/810	39/269	INFO_REALIGN_3_PRIME	chr7	TogoVar
GCNA_chrX_71573437_71618583	71603724	CGACGACA others(23): Show CGACGACAACAGTGATGATTCGGAAGCTCCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00735.hp2 HG02895.hp1 HG02897.hp1 others(1): Show HG00735.hp2 HG02895.hp1 HG02897.hp1 HG03098.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0122 a0003c0003t0001g0123 a0003c0003t0001g0169 others(1): Show a0003c0003t0001g0122 a0003c0003t0001g0123 a0003c0003t0001g0169 a0003c0003t0001g0193	4	265	0.0151	-30	c.477 others(37): Show c.477_506delTGACGACAACAGTGATGATTCGGAAGCTCC	p.Asp others(13): Show p.Asp160_Pro169del	GCNA	ENSG00000147174.12	transcript	ENST00000373696.8	protein_coding	8/13	565/2765	477/2076	159/691	INFO_REALIGN_3_PRIME	chrX	TogoVar
GDF2_chr10_47317454_47332588	47324861	ACAGAGGA others(26): Show ACAGAGGACTTCCCCTTCCAGAAGCACATCTTGC	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01070.hp2 HG01070.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0001 a0005c0010t0001	a0005c0010t0001g0026 a0005c0010t0001g0026	1	424	0.0024	-33	c.368 others(40): Show c.368_400delCAGAGGACTTCCCCTTCCAGAAGCACATCTTGC	p.Thr others(19): Show p.Thr123_Leu134delinsIle	GDF2	ENSG00000263761.3	transcript	ENST00000581492.3	protein_coding	2/2	583/3309	368/1290	123/429		chr10	TogoVar
GDF7_chr2_20662144_20684243	20667362	GGGC GGGC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01346.hp2 HG02809.hp1 HG02809.hp2 others(1): Show HG01346.hp2 HG02809.hp1 HG02809.hp2 HG02965.hp1	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0040 a0009c0011t0127 a0009c0011t0212 a0009c0011t0040 a0009c0011t0127 a0009c0011t0212	a0009c0011t0040g0013 a0009c0011t0127g0013 a0009c0011t0212g0013 a0009c0011t0040g0013 a0009c0011t0127g0013 a0009c0011t0212g0013	4	442	0.0091	-3	c.147 others(10): Show c.147_149delCGG	p.Gly others(5): Show p.Gly50del	GDF7	ENSG00000143869.7	transcript	ENST00000272224.5	protein_coding	1/2	243/9267	147/1353	49/450	INFO_REALIGN_3_PRIME	chr2	TogoVar
GFM2_chr5_74716206_74772117	74726021	TACTCAA TACTCAA	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(148): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00408.hp2 HG00438.hp2 HG00558.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp2 HG01515.hp2 HG01516.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01934.hp2 HG01952.hp2 HG01975.hp2 HG02015.hp1 HG02056.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02258.hp1 HG02280.hp1 HG02293.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG04204.hp2 HG04228.hp2 NA18522.hp1 NA18906.hp2 NA18945.hp1 NA18948.hp1 NA18949.hp1 NA18952.hp2 NA18953.hp2 NA18955.hp2 NA18963.hp1 NA18964.hp2 NA18966.hp1 NA18974.hp2 NA18975.hp2 NA18981.hp2 NA18988.hp1 NA19001.hp1 NA19003.hp1 NA19005.hp2 NA19006.hp2 NA19009.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19062.hp1 NA19065.hp2 NA19066.hp1 NA19070.hp1 NA19070.hp2 NA19085.hp2 NA19090.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0002 a0003 a0005 others(7): Show a0002 a0003 a0005 a0006 a0008 a0009 a0011 a0012 a0014 a0015	a0002c0002 a0002c0005 a0002c0006 others(10): Show a0002c0002 a0002c0005 a0002c0006 a0003c0003 a0005c0007 a0005c0009 a0006c0008 a0008c0013 a0009c0012 a0011c0017 a0012c0019 a0014c0016 a0015c0015	a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 others(12): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0005t0001 a0002c0006t0001 a0003c0003t0001 a0005c0007t0001 a0005c0009t0001 a0006c0008t0001 a0008c0013t0001 a0009c0012t0001 a0011c0017t0001 a0012c0019t0001 a0014c0016t0002 a0015c0015t0002	a0002c0002t0001g0019 a0002c0002t0001g0133 a0002c0002t0001g0146 others(128): Show a0002c0002t0001g0019 a0002c0002t0001g0133 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0175 a0002c0002t0001g0233 a0002c0002t0001g0237 a0002c0002t0001g0238 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0001g0242 a0002c0002t0001g0243 a0002c0002t0001g0302 a0002c0002t0002g0002 a0002c0002t0002g0007 a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0015 a0002c0002t0002g0041 a0002c0002t0002g0043 a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0050 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0054 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0004g0079 a0002c0005t0001g0034 a0002c0005t0001g0040 a0002c0005t0001g0231 a0002c0005t0001g0232 a0002c0005t0001g0244 a0002c0005t0001g0245 a0002c0005t0001g0306 a0002c0005t0001g0307 a0002c0005t0001g0308 a0002c0005t0001g0309 a0002c0005t0001g0310 a0002c0006t0001g0127 a0002c0006t0001g0132 a0002c0006t0001g0135 a0002c0006t0001g0136 a0002c0006t0001g0137 a0002c0006t0001g0138 a0002c0006t0001g0139 a0002c0006t0001g0140 a0002c0006t0001g0141 a0002c0006t0001g0142 a0002c0006t0001g0143 a0003c0003t0001g0011 a0003c0003t0001g0012 a0003c0003t0001g0038 a0003c0003t0001g0039 a0003c0003t0001g0275 a0003c0003t0001g0276 a0003c0003t0001g0277 a0003c0003t0001g0278 a0003c0003t0001g0279 a0003c0003t0001g0280 a0003c0003t0001g0281 a0003c0003t0001g0282 a0003c0003t0001g0283 a0003c0003t0001g0284 a0003c0003t0001g0285 a0003c0003t0001g0287 a0003c0003t0001g0288 a0003c0003t0001g0289 a0003c0003t0001g0290 a0003c0003t0001g0291 a0003c0003t0001g0292 a0003c0003t0001g0293 a0003c0003t0001g0295 a0003c0003t0001g0296 a0003c0003t0001g0297 a0005c0007t0001g0037 a0005c0007t0001g0270 a0005c0007t0001g0271 a0005c0007t0001g0272 a0005c0007t0001g0273 a0005c0007t0001g0274 a0005c0009t0001g0020 a0005c0009t0001g0153 a0005c0009t0001g0154 a0006c0008t0001g0134 a0006c0008t0001g0171 a0006c0008t0001g0172 a0006c0008t0001g0174 a0008c0013t0001g0294 a0008c0013t0001g0298 a0009c0012t0001g0286 a0009c0012t0001g0299 a0011c0017t0001g0145 a0012c0019t0001g0144 a0014c0016t0002g0053 a0015c0015t0002g0055	151	372	0.4059	-6	c.182 others(15): Show c.1826_1831delTTGAGT	p.Phe others(13): Show p.Phe609_Glu610del	GFM2	ENSG00000164347.18	transcript	ENST00000296805.8	protein_coding	18/21	2035/2993	1826/2340	609/779		chr5	TogoVar
GIGYF2_chr2_232692331_232865605	232847499	TCAGCAGC others(14): Show TCAGCAGCAGCAGCTGCCACAG	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01175.hp2 NA20905.hp1 HG01175.hp2 NA20905.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0011 a0005c0009t0011	a0005c0009t0011g0328 a0005c0009t0011g0355 a0005c0009t0011g0328 a0005c0009t0011g0355	2	376	0.0053	-21	c.362 others(30): Show c.3626_3646delTGCCACAGCAGCAGCAGCAGC	p.Leu others(15): Show p.Leu1209_Gln1215del	GIGYF2	ENSG00000204120.16	transcript	ENST00000373563.9	protein_coding	27/29	3797/7816	3626/3900	1209/1299	INFO_REALIGN_3_PRIME	chr2	TogoVar
GIGYF2_chr2_232692331_232865605	232847499	TCAGCAGC others(17): Show TCAGCAGCAGCAGCTGCCACAGCAG	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18951.hp1 NA18951.hp1	a0012 a0012	a0012c0015 a0012c0015	a0012c0015t0003 a0012c0015t0003	a0012c0015t0003g0145 a0012c0015t0003g0145	1	376	0.0027	-24	c.362 others(33): Show c.3626_3649delTGCCACAGCAGCAGCAGCAGCAGC	p.Leu others(15): Show p.Leu1209_Gln1216del	GIGYF2	ENSG00000204120.16	transcript	ENST00000373563.9	protein_coding	27/29	3797/7816	3626/3900	1209/1299	INFO_REALIGN_3_PRIME	chr2	TogoVar
GIGYF2_chr2_232692331_232865605	232847516	CACA CACA	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00140.hp1 HG00280.hp1 HG00323.hp1 others(189): Show HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00733.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01884.hp2 HG01943.hp2 HG01952.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp2 HG04115.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18942.hp1 NA18945.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18965.hp1 NA18967.hp1 NA18968.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18975.hp2 NA18977.hp2 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18990.hp2 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19001.hp2 NA19003.hp1 NA19005.hp1 NA19007.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19054.hp1 NA19056.hp1 NA19065.hp2 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19078.hp1 NA19079.hp1 NA19079.hp2 NA19083.hp1 NA19083.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0008 others(2): Show a0001 a0004 a0008 a0009 a0014	a0001c0002 a0001c0003 a0001c0005 others(8): Show a0001c0002 a0001c0003 a0001c0005 a0001c0010 a0001c0013 a0001c0016 a0001c0018 a0004c0011 a0008c0024 a0009c0023 a0014c0021	a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 others(23): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0010 a0001c0002t0012 a0001c0002t0014 a0001c0002t0017 a0001c0002t0020 a0001c0002t0021 a0001c0002t0023 a0001c0002t0024 a0001c0002t0025 a0001c0003t0003 a0001c0003t0006 a0001c0003t0027 a0001c0005t0001 a0001c0005t0008 a0001c0005t0022 a0001c0010t0001 a0001c0013t0001 a0001c0016t0026 a0001c0018t0001 a0004c0011t0001 a0008c0024t0008 a0009c0023t0001 a0014c0021t0003	a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 others(189): Show a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0196 a0001c0002t0001g0233 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0238 a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0243 a0001c0002t0001g0244 a0001c0002t0001g0294 a0001c0002t0001g0305 a0001c0002t0001g0306 a0001c0002t0001g0307 a0001c0002t0001g0310 a0001c0002t0001g0311 a0001c0002t0001g0312 a0001c0002t0001g0313 a0001c0002t0001g0314 a0001c0002t0001g0315 a0001c0002t0001g0316 a0001c0002t0001g0317 a0001c0002t0001g0318 a0001c0002t0001g0319 a0001c0002t0001g0320 a0001c0002t0001g0322 a0001c0002t0001g0323 a0001c0002t0001g0324 a0001c0002t0001g0325 a0001c0002t0001g0326 a0001c0002t0001g0327 a0001c0002t0001g0329 a0001c0002t0001g0330 a0001c0002t0001g0331 a0001c0002t0001g0332 a0001c0002t0001g0334 a0001c0002t0001g0335 a0001c0002t0001g0336 a0001c0002t0001g0337 a0001c0002t0001g0339 a0001c0002t0001g0340 a0001c0002t0001g0341 a0001c0002t0001g0342 a0001c0002t0001g0343 a0001c0002t0001g0344 a0001c0002t0001g0345 a0001c0002t0001g0346 a0001c0002t0001g0347 a0001c0002t0001g0348 a0001c0002t0001g0350 a0001c0002t0001g0353 a0001c0002t0001g0356 a0001c0002t0001g0358 a0001c0002t0001g0359 a0001c0002t0001g0361 a0001c0002t0001g0364 a0001c0002t0001g0365 a0001c0002t0001g0366 a0001c0002t0001g0367 a0001c0002t0001g0368 a0001c0002t0003g0309 a0001c0002t0005g0193 a0001c0002t0005g0295 a0001c0002t0005g0296 a0001c0002t0005g0297 a0001c0002t0005g0298 a0001c0002t0005g0299 a0001c0002t0005g0302 a0001c0002t0010g0333 a0001c0002t0010g0352 a0001c0002t0010g0354 a0001c0002t0012g0300 a0001c0002t0012g0301 a0001c0002t0014g0178 a0001c0002t0014g0179 a0001c0002t0017g0175 a0001c0002t0017g0177 a0001c0002t0020g0338 a0001c0002t0021g0191 a0001c0002t0023g0351 a0001c0002t0024g0362 a0001c0002t0025g0242 a0001c0003t0003g0009 a0001c0003t0003g0010 a0001c0003t0003g0011 a0001c0003t0003g0012 a0001c0003t0003g0013 a0001c0003t0003g0016 a0001c0003t0003g0017 a0001c0003t0003g0018 a0001c0003t0003g0019 a0001c0003t0003g0020 a0001c0003t0003g0021 a0001c0003t0003g0023 a0001c0003t0003g0024 a0001c0003t0003g0132 a0001c0003t0003g0133 a0001c0003t0003g0134 a0001c0003t0003g0135 a0001c0003t0003g0136 a0001c0003t0003g0137 a0001c0003t0003g0138 a0001c0003t0003g0139 a0001c0003t0003g0140 a0001c0003t0003g0141 a0001c0003t0003g0143 a0001c0003t0003g0144 a0001c0003t0003g0148 a0001c0003t0003g0149 a0001c0003t0003g0150 a0001c0003t0003g0151 a0001c0003t0003g0152 a0001c0003t0003g0153 a0001c0003t0003g0154 a0001c0003t0003g0155 a0001c0003t0003g0156 a0001c0003t0003g0157 a0001c0003t0003g0159 a0001c0003t0003g0161 a0001c0003t0003g0162 a0001c0003t0003g0164 a0001c0003t0003g0165 a0001c0003t0003g0166 a0001c0003t0003g0169 a0001c0003t0003g0170 a0001c0003t0003g0171 a0001c0003t0003g0173 a0001c0003t0003g0174 a0001c0003t0006g0130 a0001c0003t0006g0142 a0001c0003t0006g0146 a0001c0003t0006g0160 a0001c0003t0006g0163 a0001c0003t0006g0167 a0001c0003t0006g0168 a0001c0003t0027g0172 a0001c0005t0001g0194 a0001c0005t0001g0195 a0001c0005t0001g0197 a0001c0005t0001g0198 a0001c0005t0001g0199 a0001c0005t0001g0204 a0001c0005t0001g0208 a0001c0005t0001g0209 a0001c0005t0001g0210 a0001c0005t0001g0211 a0001c0005t0001g0212 a0001c0005t0001g0213 a0001c0005t0001g0215 a0001c0005t0001g0216 a0001c0005t0001g0217 a0001c0005t0001g0218 a0001c0005t0001g0219 a0001c0005t0001g0220 a0001c0005t0001g0222 a0001c0005t0001g0223 a0001c0005t0001g0225 a0001c0005t0001g0226 a0001c0005t0001g0227 a0001c0005t0001g0228 a0001c0005t0001g0230 a0001c0005t0001g0231 a0001c0005t0001g0303 a0001c0005t0008g0201 a0001c0005t0008g0202 a0001c0005t0008g0203 a0001c0005t0008g0205 a0001c0005t0008g0232 a0001c0005t0022g0229 a0001c0010t0001g0206 a0001c0010t0001g0214 a0001c0013t0001g0349 a0001c0013t0001g0360 a0001c0016t0026g0176 a0001c0018t0001g0321 a0004c0011t0001g0207 a0004c0011t0001g0224 a0008c0024t0008g0200 a0009c0023t0001g0221 a0014c0021t0003g0158	192	376	0.5106	-3	c.363 others(12): Show c.3630_3632delACA	p.Gln others(7): Show p.Gln1211del	GIGYF2	ENSG00000204120.16	transcript	ENST00000373563.9	protein_coding	27/29	3801/7816	3630/3900	1210/1299		chr2	TogoVar
GNAL_chr18_11684264_11890685	11689670	CGGCCCT CGGCCCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02145.hp2 HG02572.hp1 HG02976.hp2 others(3): Show HG02145.hp2 HG02572.hp1 HG02976.hp2 HG03540.hp2 NA18522.hp2 NA19240.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0034 a0004c0004t0035 a0004c0004t0043 others(3): Show a0004c0004t0034 a0004c0004t0035 a0004c0004t0043 a0004c0004t0053 a0004c0004t0064 a0004c0004t0065	a0004c0004t0034g0003 a0004c0004t0035g0004 a0004c0004t0043g0007 others(3): Show a0004c0004t0034g0003 a0004c0004t0035g0004 a0004c0004t0043g0007 a0004c0004t0053g0002 a0004c0004t0064g0005 a0004c0004t0065g0006	6	248	0.0242	-6	c.113 others(13): Show c.113_118delTGGCCC	p.Leu others(11): Show p.Leu38_Ala39del	GNAL	ENSG00000141404.17	transcript	ENST00000334049.11	protein_coding	1/12	413/6227	113/1377	38/458	INFO_REALIGN_3_PRIME	chr18	TogoVar
GNAS_chr20_58847716_58916192	58854492	AGATCCCG others(20): Show AGATCCCGACTCCGGGACAGCACCAGCC	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02055.hp1 HG02055.hp1	a0007 a0007	a0007c0026 a0007c0026	a0007c0026t0006 a0007c0026t0006	a0007c0026t0006g0232 a0007c0026t0006g0232	1	302	0.0033	-27	c.123 others(36): Show c.1233_1259delCGACTCCGGGACAGCACCAGCCGATCC	p.Asp others(13): Show p.Asp412_Pro420del	GNAS	ENSG00000087460.29	transcript	ENST00000371100.9	protein_coding	1/13	1783/4027	1233/3114	411/1037	INFO_REALIGN_3_PRIME	chr20	TogoVar
GOLGA2_chr9_128250829_128281007	128258516	GCCT GCCT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00408.hp1 HG00408.hp2 HG00438.hp2 others(119): Show HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00597.hp1 HG00642.hp2 HG00673.hp1 HG00741.hp1 HG01074.hp1 HG01099.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01256.hp1 HG01496.hp1 HG01515.hp2 HG01884.hp1 HG01891.hp1 HG01981.hp2 HG02027.hp2 HG02040.hp1 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02155.hp2 HG02165.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02486.hp2 HG02622.hp2 HG02683.hp2 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02976.hp2 HG03098.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03942.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18939.hp2 NA18940.hp2 NA18944.hp1 NA18946.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp2 NA18959.hp1 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18964.hp1 NA18967.hp1 NA18968.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp2 NA18979.hp1 NA18984.hp2 NA18995.hp2 NA18999.hp1 NA19005.hp2 NA19009.hp2 NA19012.hp2 NA19030.hp1 NA19055.hp2 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19077.hp1 NA19079.hp2 NA19080.hp1 NA19082.hp2 NA19083.hp2 NA19090.hp1 NA20129.hp1 NA21309.hp1	a0002 a0003 a0005 others(6): Show a0002 a0003 a0005 a0006 a0013 a0017 a0018 a0022 a0024	a0002c0002 a0002c0022 a0003c0003 others(9): Show a0002c0002 a0002c0022 a0003c0003 a0003c0010 a0003c0033 a0005c0005 a0006c0007 a0013c0017 a0017c0021 a0018c0028 a0022c0029 a0024c0030	a0002c0002t0003 a0002c0002t0009 a0002c0002t0011 others(13): Show a0002c0002t0003 a0002c0002t0009 a0002c0002t0011 a0002c0022t0003 a0003c0003t0004 a0003c0010t0004 a0003c0010t0008 a0003c0033t0004 a0005c0005t0004 a0006c0007t0004 a0006c0007t0006 a0013c0017t0006 a0017c0021t0003 a0018c0028t0004 a0022c0029t0004 a0024c0030t0006	a0002c0002t0003g0003 a0002c0002t0003g0004 a0002c0002t0003g0015 others(63): Show a0002c0002t0003g0003 a0002c0002t0003g0004 a0002c0002t0003g0015 a0002c0002t0003g0016 a0002c0002t0003g0022 a0002c0002t0003g0046 a0002c0002t0003g0049 a0002c0002t0003g0061 a0002c0002t0003g0062 a0002c0002t0003g0063 a0002c0002t0003g0064 a0002c0002t0003g0065 a0002c0002t0003g0066 a0002c0002t0003g0067 a0002c0002t0003g0068 a0002c0002t0003g0069 a0002c0002t0003g0070 a0002c0002t0003g0072 a0002c0002t0003g0076 a0002c0002t0003g0079 a0002c0002t0003g0080 a0002c0002t0003g0081 a0002c0002t0009g0035 a0002c0002t0011g0071 a0002c0002t0011g0073 a0002c0022t0003g0074 a0003c0003t0004g0011 a0003c0003t0004g0012 a0003c0003t0004g0043 a0003c0003t0004g0169 a0003c0003t0004g0170 a0003c0003t0004g0172 a0003c0003t0004g0173 a0003c0003t0004g0175 a0003c0003t0004g0176 a0003c0003t0004g0177 a0003c0003t0004g0180 a0003c0003t0004g0182 a0003c0003t0004g0183 a0003c0010t0004g0167 a0003c0010t0008g0029 a0003c0033t0004g0056 a0005c0005t0004g0008 a0005c0005t0004g0033 a0005c0005t0004g0047 a0005c0005t0004g0048 a0005c0005t0004g0050 a0005c0005t0004g0051 a0005c0005t0004g0052 a0005c0005t0004g0053 a0005c0005t0004g0082 a0005c0005t0004g0133 a0006c0007t0004g0160 a0006c0007t0006g0020 a0006c0007t0006g0042 a0006c0007t0006g0154 a0006c0007t0006g0155 a0006c0007t0006g0156 a0006c0007t0006g0157 a0006c0007t0006g0159 a0006c0007t0006g0166 a0013c0017t0006g0041 a0017c0021t0003g0075 a0018c0028t0004g0168 a0022c0029t0004g0181 a0024c0030t0006g0158	122	388	0.3144	-3	c.222 others(12): Show c.2225_2227delAGG	p.Glu others(6): Show p.Glu742del	GOLGA2	ENSG00000167110.19	transcript	ENST00000611957.5	protein_coding	22/27	2258/4359	2225/3090	742/1029		chr9	TogoVar
GOLGA2_chr9_128250829_128281007	128258516	GCCTCCT GCCTCCT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01891.hp2 HG02109.hp2 HG02145.hp2 others(19): Show HG01891.hp2 HG02109.hp2 HG02145.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02615.hp2 HG02622.hp1 HG02723.hp2 HG02818.hp1 HG02895.hp2 HG02897.hp2 HG02965.hp2 HG02976.hp1 HG03098.hp2 HG03130.hp1 HG03225.hp2 HG03516.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA19030.hp2	a0004 a0009 a0004 a0009	a0004c0006 a0004c0008 a0009c0014 a0004c0006 a0004c0008 a0009c0014	a0004c0006t0001 a0004c0006t0004 a0004c0006t0006 others(3): Show a0004c0006t0001 a0004c0006t0004 a0004c0006t0006 a0004c0008t0004 a0004c0008t0007 a0009c0014t0001	a0004c0006t0001g0037 a0004c0006t0001g0088 a0004c0006t0001g0089 others(9): Show a0004c0006t0001g0037 a0004c0006t0001g0088 a0004c0006t0001g0089 a0004c0006t0001g0090 a0004c0006t0004g0031 a0004c0006t0004g0184 a0004c0006t0006g0019 a0004c0008t0004g0091 a0004c0008t0004g0092 a0004c0008t0007g0021 a0004c0008t0007g0055 a0009c0014t0001g0023	22	388	0.0567	-6	c.222 others(15): Show c.2222_2227delAGGAGG	p.Glu others(13): Show p.Glu741_Glu742del	GOLGA2	ENSG00000167110.19	transcript	ENST00000611957.5	protein_coding	22/27	2258/4359	2222/3090	741/1029		chr9	TogoVar
GOLGA6A_chr15_74064857_74087550	74074580	TAGCCTCT others(14): Show TAGCCTCTCCTCCTTCTTCCAC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02559.hp2 HG02559.hp2	a0022 a0022	a0022c0031 a0022c0031	a0022c0031t0001 a0022c0031t0001	a0022c0031t0001g0117 a0022c0031t0001g0117	1	137	0.0073	-21	c.124 others(30): Show c.1248_1268delGTGGAAGAAGGAGGAGAGGCT	p.Trp others(13): Show p.Trp417_Leu423del	GOLGA6A	ENSG00000159289.6	transcript	ENST00000290438.3	protein_coding	11/18	1309/3176	1248/2082	416/693		chr15	TogoVar
GOLGA6L10_chr15_82334993_82354475	82344643	CCCAGCTC others(11): Show CCCAGCTCCAGCATCCTCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00408.hp2 HG02056.hp2 others(3): Show HG00099.hp1 HG00408.hp2 HG02056.hp2 HG02615.hp1 HG04204.hp2 NA20905.hp1	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0003 a0009c0009t0011 a0009c0009t0017 a0009c0009t0003 a0009c0009t0011 a0009c0009t0017	a0009c0009t0003g0035 a0009c0009t0003g0103 a0009c0009t0011g0121 others(1): Show a0009c0009t0003g0035 a0009c0009t0003g0103 a0009c0009t0011g0121 a0009c0009t0017g0034	6	301	0.0199	-18	c.119 others(27): Show c.1199_1216delAGAGGATGCTGGAGCTGG	p.Glu others(13): Show p.Glu400_Leu405del	GOLGA6L10	ENSG00000278662.6	transcript	ENST00000610657.2	protein_coding	6/9	1316/4452	1199/1569	400/522		chr15	TogoVar
GOLGA6L10_chr15_82334993_82354475	82344643	CCCAGCTC others(29): Show CCCAGCTCCAGCATCCTCTCCAGCTCCCGCAGCCTCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03471.hp1 HG03471.hp1	a0046 a0046	a0046c0045 a0046c0045	a0046c0045t0046 a0046c0045t0046	a0046c0045t0046g0054 a0046c0045t0046g0054	1	301	0.0033	-36	c.118 others(45): Show c.1181_1216delAGAGGCTGCGGGAGCTGGAGAGGATGCTGGAGCTGG	p.Glu others(13): Show p.Glu394_Leu405del	GOLGA6L10	ENSG00000278662.6	transcript	ENST00000610657.2	protein_coding	6/9	1316/4452	1181/1569	394/522		chr15	TogoVar
GOLGA6L10_chr15_82334993_82354475	82344900	CAGCCTCT others(119): Show CAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACATAGCCTCT CCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGT TCACATAGCCTCTCCTCCTGTTCACGT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01069.hp1 HG01069.hp1	a0030 a0030	a0030c0059 a0030c0059	a0030c0059t0040 a0030c0059t0040	a0030c0059t0040g0139 a0030c0059t0040g0139	1	301	0.0033	-126	c.834 others(7): Show c.834_959del	p.Arg others(13): Show p.Arg279_Leu320del	GOLGA6L10	ENSG00000278662.6	transcript	ENST00000610657.2	protein_coding	6/9	1059/4452	834/1569	278/522		chr15	TogoVar
GOLGA6L10_chr15_82334993_82354475	82344963	TAGCCTCT others(140): Show TAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACATAGCCTCT CCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGT TCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	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	-147	c.750 others(7): Show c.750_896del	p.Cys others(13): Show p.Cys251_Leu299del	GOLGA6L10	ENSG00000278662.6	transcript	ENST00000610657.2	protein_coding	6/9	996/4452	750/1569	250/522		chr15	TogoVar
GOLGA6L10_chr15_82334993_82354475	82344981	ACACAGCC others(8): Show ACACAGCCTCTCCTCC	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02040.hp2 NA19084.hp2 HG02040.hp2 NA19084.hp2	a0034 a0051 a0034 a0051	a0034c0034 a0051c0047 a0034c0034 a0051c0047	a0034c0034t0001 a0051c0047t0001 a0034c0034t0001 a0051c0047t0001	a0034c0034t0001g0069 a0051c0047t0001g0083 a0034c0034t0001g0069 a0051c0047t0001g0083	2	301	0.0066	-15	c.864 others(22): Show c.864_878delGGAGGAGAGGCTGTG	p.Gln others(19): Show p.Gln288_Cys293delinsHis	GOLGA6L10	ENSG00000278662.6	transcript	ENST00000610657.2	protein_coding	6/9	978/4452	864/1569	288/522		chr15	TogoVar
GOLGA6L10_chr15_82334993_82354475	82344984	CAGCCTCT others(14): Show CAGCCTCTCCTCCTGTTCACAT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18522.hp2 NA18522.hp2	a0026 a0026	a0026c0028 a0026c0028	a0026c0028t0047 a0026c0028t0047	a0026c0028t0047g0045 a0026c0028t0047g0045	1	301	0.0033	-21	c.855 others(28): Show c.855_875delATGTGAACAGGAGGAGAGGCT	p.Cys others(13): Show p.Cys286_Leu292del	GOLGA6L10	ENSG00000278662.6	transcript	ENST00000610657.2	protein_coding	6/9	975/4452	855/1569	285/522		chr15	TogoVar
GOLGA6L10_chr15_82334993_82354475	82344984	CAGCCTCT others(35): Show CAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03139.hp1 NA18522.hp1 HG03139.hp1 NA18522.hp1	a0049 a0050 a0049 a0050	a0049c0042 a0050c0041 a0049c0042 a0050c0041	a0049c0042t0005 a0050c0041t0030 a0049c0042t0005 a0050c0041t0030	a0049c0042t0005g0106 a0050c0041t0030g0112 a0049c0042t0005g0106 a0050c0041t0030g0112	2	301	0.0066	-42	c.834 others(49): Show c.834_875delACGTGAACAGGAGGAGAGGCTATGTGAACAGGAGGAGA GGCT	p.Arg others(13): Show p.Arg279_Leu292del	GOLGA6L10	ENSG00000278662.6	transcript	ENST00000610657.2	protein_coding	6/9	975/4452	834/1569	278/522		chr15	TogoVar
GOLGA6L10_chr15_82334993_82354475	82345045	CGTAGCCT others(182): Show CGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCT CTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCT GTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC AGCCTCTCCTCCTGTTCATGTAGCCTCTCCTCCTGTTCAT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00408.hp2 HG02056.hp2 others(9): Show HG00099.hp1 HG00408.hp2 HG02056.hp2 HG02615.hp1 HG02895.hp2 HG02965.hp1 HG02976.hp1 HG03139.hp2 HG03471.hp1 HG04204.hp2 NA20129.hp2 NA20905.hp1	a0009 a0014 a0045 others(1): Show a0009 a0014 a0045 a0046	a0009c0009 a0014c0026 a0014c0027 others(2): Show a0009c0009 a0014c0026 a0014c0027 a0045c0044 a0046c0045	a0009c0009t0003 a0009c0009t0011 a0009c0009t0017 others(4): Show a0009c0009t0003 a0009c0009t0011 a0009c0009t0017 a0014c0026t0003 a0014c0027t0011 a0045c0044t0003 a0046c0045t0046	a0009c0009t0003g0035 a0009c0009t0003g0103 a0009c0009t0011g0121 others(7): Show a0009c0009t0003g0035 a0009c0009t0003g0103 a0009c0009t0011g0121 a0009c0009t0017g0034 a0014c0026t0003g0153 a0014c0026t0003g0154 a0014c0027t0011g0155 a0014c0027t0011g0156 a0045c0044t0003g0105 a0046c0045t0046g0054	12	301	0.0399	-189	c.626 others(7): Show c.626_814del	p.His others(13): Show p.His209_Leu271del	GOLGA6L10	ENSG00000278662.6	transcript	ENST00000610657.2	protein_coding	6/9	914/4452	626/1569	209/522		chr15	TogoVar
GOLGA6L10_chr15_82334993_82354475	82345047	TAGCCTCT others(14): Show TAGCCTCTCCTCCTGTTCACAC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18972.hp2 NA18972.hp2	a0052 a0052	a0052c0046 a0052c0046	a0052c0046t0044 a0052c0046t0044	a0052c0046t0044g0055 a0052c0046t0044g0055	1	301	0.0033	-21	c.792 others(28): Show c.792_812delGTGTGAACAGGAGGAGAGGCT	p.Cys others(13): Show p.Cys265_Leu271del	GOLGA6L10	ENSG00000278662.6	transcript	ENST00000610657.2	protein_coding	6/9	912/4452	792/1569	264/522		chr15	TogoVar
GOLGA6L10_chr15_82334993_82354475	82345089	TAGCCTCT others(56): Show TAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCT CCTCCTGTTCACAC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02723.hp1 HG02922.hp2 HG03540.hp1 others(3): Show HG02723.hp1 HG02922.hp2 HG03540.hp1 NA18947.hp1 NA18984.hp2 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0029 a0001c0001 a0001c0029	a0001c0001t0003 a0001c0001t0033 a0001c0029t0003 a0001c0001t0003 a0001c0001t0033 a0001c0029t0003	a0001c0001t0003g0002 a0001c0001t0003g0008 a0001c0001t0003g0013 others(2): Show a0001c0001t0003g0002 a0001c0001t0003g0008 a0001c0001t0003g0013 a0001c0001t0033g0116 a0001c0029t0003g0107	6	301	0.0199	-63	c.708 others(70): Show c.708_770delGTGTGAACAGGAGGAGAGGCTACGTGAACAGGAGGAGA GGCTGTGTGAACAGGAGGAGAGGCT	p.Cys others(13): Show p.Cys237_Leu257del	GOLGA6L10	ENSG00000278662.6	transcript	ENST00000610657.2	protein_coding	6/9	870/4452	708/1569	236/522		chr15	TogoVar
GOLGA6L10_chr15_82334993_82354475	82345131	TAGCCTCT others(14): Show TAGCCTCTCCTCCTGTTCACAC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18522.hp2 NA18522.hp2	a0026 a0026	a0026c0028 a0026c0028	a0026c0028t0047 a0026c0028t0047	a0026c0028t0047g0045 a0026c0028t0047g0045	1	301	0.0033	-21	c.708 others(28): Show c.708_728delGTGTGAACAGGAGGAGAGGCT	p.Cys others(13): Show p.Cys237_Leu243del	GOLGA6L10	ENSG00000278662.6	transcript	ENST00000610657.2	protein_coding	6/9	828/4452	708/1569	236/522		chr15	TogoVar
GOLGA6L10_chr15_82334993_82354475	82345150	CACAGCCT others(77): Show CACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCT CTCCTCCTGTTCATGTAGCCTCTCCTCCTGTTCAT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18522.hp1 NA18522.hp1	a0049 a0049	a0049c0042 a0049c0042	a0049c0042t0005 a0049c0042t0005	a0049c0042t0005g0106 a0049c0042t0005g0106	1	301	0.0033	-84	c.626 others(91): Show c.626_709delATGAACAGGAGGAGAGGCTACATGAACAGGAGGAGAGG CTGTGTGAACAGGAGGAGAGGCTACGTGAACAGGAGGAGAGGCTGT	p.His others(19): Show p.His209_Cys237delinsArg	GOLGA6L10	ENSG00000278662.6	transcript	ENST00000610657.2	protein_coding	6/9	809/4452	626/1569	209/522		chr15	TogoVar
GOLGA6L10_chr15_82334993_82354475	82345171	CGTAGCCT others(56): Show CGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCATGTAGCCT CTCCTCCTGTTCAT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02723.hp1 HG02922.hp2 HG03540.hp1 others(3): Show HG02723.hp1 HG02922.hp2 HG03540.hp1 NA18947.hp1 NA18984.hp2 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0029 a0001c0001 a0001c0029	a0001c0001t0003 a0001c0001t0033 a0001c0029t0003 a0001c0001t0003 a0001c0001t0033 a0001c0029t0003	a0001c0001t0003g0002 a0001c0001t0003g0008 a0001c0001t0003g0013 others(2): Show a0001c0001t0003g0002 a0001c0001t0003g0008 a0001c0001t0003g0013 a0001c0001t0033g0116 a0001c0029t0003g0107	6	301	0.0199	-63	c.626 others(70): Show c.626_688delATGAACAGGAGGAGAGGCTACATGAACAGGAGGAGAGG CTGTGTGAACAGGAGGAGAGGCTAC	p.His others(13): Show p.His209_Leu229del	GOLGA6L10	ENSG00000278662.6	transcript	ENST00000610657.2	protein_coding	6/9	788/4452	626/1569	209/522		chr15	TogoVar
GOLGA6L10_chr15_82334993_82354475	82345192	CACAGCCT others(35): Show CACAGCCTCTCCTCCTGTTCATGTAGCCTCTCCTCCTGTTCAT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00140.hp2 HG00423.hp1 HG00609.hp2 others(51): Show HG00140.hp2 HG00423.hp1 HG00609.hp2 HG00639.hp1 HG01109.hp1 HG01109.hp2 HG01243.hp2 HG01516.hp2 HG01517.hp2 HG01952.hp1 HG02027.hp1 HG02074.hp2 HG02080.hp2 HG02132.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp2 HG02523.hp1 HG02572.hp1 HG02630.hp1 HG02647.hp2 HG02735.hp2 HG02809.hp1 HG02886.hp2 HG02922.hp1 HG03041.hp2 HG03139.hp1 HG03453.hp1 HG03579.hp1 HG03704.hp2 HG04115.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp2 NA18941.hp1 NA18956.hp1 NA18959.hp1 NA18965.hp2 NA18967.hp1 NA18985.hp1 NA18986.hp1 NA18998.hp2 NA19000.hp1 NA19012.hp2 NA19030.hp2 NA19054.hp1 NA19060.hp1 NA19065.hp2 NA19084.hp1 NA19088.hp1 NA20129.hp1	a0001 a0027 a0048 others(1): Show a0001 a0027 a0048 a0050	a0001c0001 a0027c0050 a0048c0043 others(1): Show a0001c0001 a0027c0050 a0048c0043 a0050c0041	a0001c0001t0003 a0001c0001t0005 a0001c0001t0016 others(7): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0016 a0001c0001t0028 a0001c0001t0032 a0001c0001t0034 a0001c0001t0035 a0027c0050t0003 a0048c0043t0003 a0050c0041t0030	a0001c0001t0003g0002 a0001c0001t0003g0008 a0001c0001t0003g0009 others(18): Show a0001c0001t0003g0002 a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0013 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0036 a0001c0001t0003g0101 a0001c0001t0003g0120 a0001c0001t0005g0016 a0001c0001t0005g0056 a0001c0001t0005g0111 a0001c0001t0005g0115 a0001c0001t0016g0037 a0001c0001t0028g0109 a0001c0001t0032g0114 a0001c0001t0034g0117 a0001c0001t0035g0119 a0027c0050t0003g0122 a0048c0043t0003g0110 a0050c0041t0030g0112	54	301	0.1794	-42	c.626 others(49): Show c.626_667delATGAACAGGAGGAGAGGCTACATGAACAGGAGGAGAGG CTGT	p.His others(19): Show p.His209_Cys223delinsArg	GOLGA6L10	ENSG00000278662.6	transcript	ENST00000610657.2	protein_coding	6/9	767/4452	626/1569	209/522		chr15	TogoVar
GOLGA6L1_chr15_23122066_23141822	23129575	TTCCTGCT others(14): Show TTCCTGCTCACACATCTTCTCC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03239.hp2 HG03239.hp2	a0053 a0053	a0053c0042 a0053c0042	a0053c0042t0001 a0053c0042t0001	a0053c0042t0001g0077 a0053c0042t0001g0077	1	204	0.0049	-21	c.185 others(30): Show c.1857_1877delGGAGAAGATGTGTGAGCAGGA	p.Glu others(13): Show p.Glu620_Glu626del	GOLGA6L1	ENSG00000273976.2	transcript	ENST00000614055.2	protein_coding	8/9	1968/3822	1857/2007	619/668		chr15	TogoVar
GOLGA6L1_chr15_23122066_23141822	23129668	CCATATCT others(14): Show CCATATCTTCTCCTCCTGCTCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02970.hp2 HG02970.hp2	a0048 a0048	a0048c0035 a0048c0035	a0048c0035t0003 a0048c0035t0003	a0048c0035t0003g0055 a0048c0035t0003g0055	1	204	0.0049	-21	c.176 others(30): Show c.1764_1784delAGAGCAGGAGGAGAAGATATG	p.Glu others(13): Show p.Glu589_Trp595del	GOLGA6L1	ENSG00000273976.2	transcript	ENST00000614055.2	protein_coding	8/9	1875/3822	1764/2007	588/668		chr15	TogoVar
GOLGA6L1_chr15_23122066_23141822	23129668	CCATATCT others(158): Show CCATATCTTCTCCTCCTGCTCTCGTATCTTCTCCTTCTGCTCCCGTATCT TCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCCTCCGCATCTTCTCCTGT TCTTGCATCTTCTCTTCCTGCTCCCCCATCTTCTCTTCCTGTTCCTGCAT CATCTCCTCCTGCTCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03239.hp2 HG03239.hp2	a0053 a0053	a0053c0042 a0053c0042	a0053c0042t0001 a0053c0042t0001	a0053c0042t0001g0077 a0053c0042t0001g0077	1	204	0.0049	-165	c.162 others(9): Show c.1620_1784del	p.Glu others(13): Show p.Glu541_Trp595del	GOLGA6L1	ENSG00000273976.2	transcript	ENST00000614055.2	protein_coding	8/9	1875/3822	1620/2007	540/668		chr15	TogoVar
GOLGA6L1_chr15_23122066_23141822	23129689	TCGTATCT others(14): Show TCGTATCTTCTCCTTCTGCTCC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02135.hp2 HG02135.hp2	a0029 a0029	a0029c0068 a0029c0068	a0029c0068t0001 a0029c0068t0001	a0029c0068t0001g0119 a0029c0068t0001g0119	1	204	0.0049	-21	c.174 others(30): Show c.1743_1763delGGAGCAGAAGGAGAAGATACG	p.Glu others(13): Show p.Glu582_Arg588del	GOLGA6L1	ENSG00000273976.2	transcript	ENST00000614055.2	protein_coding	8/9	1854/3822	1743/2007	581/668		chr15	TogoVar
GOLGA6L1_chr15_23122066_23141822	23129749	CCTCCGCA others(11): Show CCTCCGCATCTTCTCCTGT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00741.hp1 HG01192.hp2 HG02273.hp2 others(4): Show HG00741.hp1 HG01192.hp2 HG02273.hp2 HG02572.hp2 HG03098.hp1 HG03453.hp1 HG04199.hp1	a0015 a0023 a0058 others(2): Show a0015 a0023 a0058 a0063 a0064	a0015c0013 a0023c0021 a0058c0045 others(2): Show a0015c0013 a0023c0021 a0058c0045 a0063c0052 a0064c0057	a0015c0013t0010 a0023c0021t0004 a0023c0021t0023 others(3): Show a0015c0013t0010 a0023c0021t0004 a0023c0021t0023 a0058c0045t0007 a0063c0052t0010 a0064c0057t0024	a0015c0013t0010g0021 a0023c0021t0004g0100 a0023c0021t0023g0098 others(3): Show a0015c0013t0010g0021 a0023c0021t0004g0100 a0023c0021t0023g0098 a0058c0045t0007g0083 a0063c0052t0010g0095 a0064c0057t0024g0101	7	204	0.0343	-18	c.168 others(27): Show c.1686_1703delACAGGAGAAGATGCGGAG	p.Gln others(13): Show p.Gln563_Arg568del	GOLGA6L1	ENSG00000273976.2	transcript	ENST00000614055.2	protein_coding	8/9	1794/3822	1686/2007	562/668		chr15	TogoVar
GOLGA6L1_chr15_23122066_23141822	23129819	ATCTCCTC others(14): Show ATCTCCTCCTGCTCTCGTATCT	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00621.hp2 HG00621.hp2	a0052 a0052	a0052c0040 a0052c0040	a0052c0040t0003 a0052c0040t0003	a0052c0040t0003g0064 a0052c0040t0003g0064	1	204	0.0049	-21	c.161 others(30): Show c.1613_1633delAGATACGAGAGCAGGAGGAGA	p.Lys others(13): Show p.Lys538_Glu544del	GOLGA6L1	ENSG00000273976.2	transcript	ENST00000614055.2	protein_coding	8/9	1724/3822	1613/2007	538/668		chr15	TogoVar
GOLGA6L1_chr15_23122066_23141822	23130316	TATCTTCT others(35): Show TATCTTCTCCTCCTTCTCCCACATCATCTCCTCCAGCCTCCGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00408.hp1 HG00438.hp2 HG00544.hp2 others(24): 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 HG02258.hp1 HG02572.hp1 HG02965.hp1 HG03130.hp2 HG03492.hp2 NA18906.hp1 NA18974.hp1 NA18977.hp2 NA19043.hp1 NA19043.hp2 NA19077.hp2 NA20905.hp1	a0002 a0018 a0042 others(6): Show a0002 a0018 a0042 a0046 a0054 a0055 a0056 a0059 a0070	a0002c0003 a0002c0046 a0002c0048 others(8): Show a0002c0003 a0002c0046 a0002c0048 a0018c0018 a0042c0030 a0046c0033 a0054c0050 a0055c0049 a0056c0047 a0059c0043 a0070c0060	a0002c0003t0002 a0002c0003t0018 a0002c0046t0002 others(10): Show a0002c0003t0002 a0002c0003t0018 a0002c0046t0002 a0002c0048t0002 a0018c0018t0006 a0018c0018t0009 a0042c0030t0002 a0046c0033t0006 a0054c0050t0009 a0055c0049t0002 a0056c0047t0002 a0059c0043t0006 a0070c0060t0009	a0002c0003t0002g0005 a0002c0003t0002g0015 a0002c0003t0002g0016 others(18): Show a0002c0003t0002g0005 a0002c0003t0002g0015 a0002c0003t0002g0016 a0002c0003t0002g0017 a0002c0003t0002g0035 a0002c0003t0002g0040 a0002c0003t0002g0041 a0002c0003t0002g0044 a0002c0003t0002g0045 a0002c0003t0018g0039 a0002c0046t0002g0043 a0002c0048t0002g0037 a0018c0018t0006g0086 a0018c0018t0009g0082 a0042c0030t0002g0033 a0046c0033t0006g0060 a0054c0050t0009g0087 a0055c0049t0002g0038 a0056c0047t0002g0036 a0059c0043t0006g0085 a0070c0060t0009g0103	27	204	0.1324	-42	c.109 others(51): Show c.1095_1136delGCGGAGGCTGGAGGAGATGATGTGGGAGAAGGAGGA GAAGAT	p.Met others(13): Show p.Met365_Lys378del	GOLGA6L1	ENSG00000273976.2	transcript	ENST00000614055.2	protein_coding	8/9	1227/3822	1095/2007	365/668		chr15	TogoVar
GOLGA6L1_chr15_23122066_23141822	23136585	AGGATGGG others(11): Show AGGATGGGTAGGGAGGTGG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00323.hp1 HG00621.hp2 HG00735.hp2 others(22): Show HG00323.hp1 HG00621.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01071.hp1 HG01106.hp1 HG01192.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01515.hp2 HG02257.hp1 HG02258.hp2 HG02300.hp2 HG02572.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02735.hp2 HG03017.hp2 HG03239.hp1 HG03490.hp1 HG03579.hp2 HG03688.hp2	a0003 a0015 a0016 others(3): Show a0003 a0015 a0016 a0017 a0051 a0052	a0003c0002 a0015c0013 a0016c0014 others(3): Show a0003c0002 a0015c0013 a0016c0014 a0017c0015 a0051c0039 a0052c0040	a0003c0002t0001 a0003c0002t0021 a0015c0013t0010 others(4): Show a0003c0002t0001 a0003c0002t0021 a0015c0013t0010 a0016c0014t0003 a0017c0015t0001 a0051c0039t0015 a0052c0040t0003	a0003c0002t0001g0002 a0003c0002t0001g0019 a0003c0002t0001g0020 others(13): Show a0003c0002t0001g0002 a0003c0002t0001g0019 a0003c0002t0001g0020 a0003c0002t0001g0065 a0003c0002t0001g0066 a0003c0002t0001g0068 a0003c0002t0001g0069 a0003c0002t0001g0072 a0003c0002t0021g0067 a0015c0013t0010g0021 a0016c0014t0003g0070 a0016c0014t0003g0074 a0017c0015t0001g0073 a0017c0015t0001g0075 a0051c0039t0015g0071 a0052c0040t0003g0064	25	204	0.1226	-18	c.129 others(25): Show c.129_146delCCACCTCCCTACCCATCC	p.His others(11): Show p.His44_Pro49del	GOLGA6L1	ENSG00000273976.2	transcript	ENST00000614055.2	protein_coding	1/9	237/3822	129/2007	43/668		chr15	TogoVar
GOLGA6L1_chr15_23122066_23141822	23136585	AGGATGGG others(29): Show AGGATGGGTAGGGAGGTGGGGATGGGTAGGGAGGTGG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00408.hp1 HG00438.hp2 HG00544.hp2 others(37): Show HG00408.hp1 HG00438.hp2 HG00544.hp2 HG00738.hp1 HG01069.hp1 HG01071.hp2 HG01081.hp2 HG01109.hp2 HG01175.hp1 HG01192.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02559.hp1 HG02572.hp1 HG02622.hp2 HG02738.hp2 HG02818.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG03041.hp2 HG03098.hp1 HG03225.hp2 HG03492.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18974.hp1 NA18977.hp2 NA19043.hp1 NA19043.hp2 NA19077.hp2	a0002 a0009 a0010 others(11): Show a0002 a0009 a0010 a0011 a0018 a0019 a0020 a0054 a0055 a0056 a0057 a0058 a0059 a0060	a0002c0003 a0002c0046 a0002c0048 others(13): Show a0002c0003 a0002c0046 a0002c0048 a0009c0009 a0010c0010 a0011c0011 a0018c0018 a0019c0016 a0020c0017 a0054c0050 a0055c0049 a0056c0047 a0057c0044 a0058c0045 a0059c0043 a0060c0051	a0002c0003t0002 a0002c0003t0018 a0002c0046t0002 others(17): Show a0002c0003t0002 a0002c0003t0018 a0002c0046t0002 a0002c0048t0002 a0009c0009t0001 a0009c0009t0011 a0010c0010t0003 a0010c0010t0006 a0011c0011t0001 a0018c0018t0006 a0018c0018t0009 a0019c0016t0007 a0020c0017t0013 a0054c0050t0009 a0055c0049t0002 a0056c0047t0002 a0057c0044t0011 a0058c0045t0007 a0059c0043t0006 a0060c0051t0006	a0002c0003t0002g0005 a0002c0003t0002g0015 a0002c0003t0002g0016 others(28): Show a0002c0003t0002g0005 a0002c0003t0002g0015 a0002c0003t0002g0016 a0002c0003t0002g0017 a0002c0003t0002g0035 a0002c0003t0002g0040 a0002c0003t0002g0041 a0002c0003t0002g0044 a0002c0003t0002g0045 a0002c0003t0018g0039 a0002c0046t0002g0043 a0002c0048t0002g0037 a0009c0009t0001g0089 a0009c0009t0001g0090 a0009c0009t0011g0034 a0010c0010t0003g0079 a0010c0010t0003g0081 a0010c0010t0006g0078 a0011c0011t0001g0012 a0018c0018t0006g0086 a0018c0018t0009g0082 a0019c0016t0007g0084 a0019c0016t0007g0088 a0020c0017t0013g0022 a0054c0050t0009g0087 a0055c0049t0002g0038 a0056c0047t0002g0036 a0057c0044t0011g0042 a0058c0045t0007g0083 a0059c0043t0006g0085 a0060c0051t0006g0080	40	204	0.1961	-36	c.111 others(43): Show c.111_146delCCACCTCCCTACCCATCCCCACCTCCCTACCCATCC	p.His others(11): Show p.His38_Pro49del	GOLGA6L1	ENSG00000273976.2	transcript	ENST00000614055.2	protein_coding	1/9	237/3822	111/2007	37/668		chr15	TogoVar
GOLGA6L1_chr15_23122066_23141822	23136585	AGGATGGG others(47): Show AGGATGGGTAGGGAGGTGGGGATGGGTAGGGAGGTGGGGATGGGTAGGGA GGTGG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01243.hp1 HG01884.hp1 HG01952.hp2 others(7): Show HG01243.hp1 HG01884.hp1 HG01952.hp2 HG02683.hp1 HG03453.hp1 HG03927.hp1 HG04115.hp2 NA18978.hp1 NA18986.hp2 NA19009.hp1	a0012 a0021 a0022 others(3): Show a0012 a0021 a0022 a0061 a0062 a0063	a0012c0012 a0021c0019 a0022c0020 others(3): Show a0012c0012 a0021c0019 a0022c0020 a0061c0054 a0062c0053 a0063c0052	a0012c0012t0001 a0021c0019t0001 a0022c0020t0008 others(3): Show a0012c0012t0001 a0021c0019t0001 a0022c0020t0008 a0061c0054t0019 a0062c0053t0001 a0063c0052t0010	a0012c0012t0001g0023 a0012c0012t0001g0094 a0021c0019t0001g0024 others(5): Show a0012c0012t0001g0023 a0012c0012t0001g0094 a0021c0019t0001g0024 a0022c0020t0008g0092 a0022c0020t0008g0093 a0061c0054t0019g0046 a0062c0053t0001g0091 a0063c0052t0010g0095	10	204	0.0490	-54	c.93_ others(60): Show c.93_146delCCACCTCCCTACCCATCCCCACCTCCCTACCCATCCCCA CCTCCCTACCCATCC	p.His others(11): Show p.His32_Pro49del	GOLGA6L1	ENSG00000273976.2	transcript	ENST00000614055.2	protein_coding	1/9	237/3822	93/2007	31/668		chr15	TogoVar

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Search Results (Total: 1873 hits)