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
ACAN_chr15_88798436_88880353	88855537	C C	CACTGCCC others(50): Show CACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTC TAGAGACT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01515.hp2 HG01517.hp1 HG02630.hp2 others(3): Show HG01515.hp2 HG01517.hp1 HG02630.hp2 HG02922.hp1 NA18522.hp2 NA19030.hp2	a0049 a0111 a0113 others(2): Show a0049 a0111 a0113 a0114 a0117	a0049c0031 a0111c0099 a0113c0100 others(2): Show a0049c0031 a0111c0099 a0113c0100 a0114c0101 a0117c0098	a0049c0031t0001 a0111c0099t0001 a0113c0100t0001 others(2): Show a0049c0031t0001 a0111c0099t0001 a0113c0100t0001 a0114c0101t0001 a0117c0098t0007	a0049c0031t0001g0082 a0049c0031t0001g0123 a0111c0099t0001g0151 others(3): Show a0049c0031t0001g0082 a0049c0031t0001g0123 a0111c0099t0001g0151 a0113c0100t0001g0017 a0114c0101t0001g0211 a0117c0098t0007g0203	6	368	0.0163	57	c.300 others(66): Show c.3008_3009insTACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCC TTCTGGAGAAGTTCTAGAGAC	p.Thr others(72): Show p.Thr1003_Thr1004insThrAlaProGlyValGluAspIleSerGly LeuProSerGlyGluValLeuGluThr	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	3390/8960	3009/7707	1003/2568	INFO_REALIGN_3_PRIME	chr15	TogoVar
ACAN_chr15_88798436_88880353	88855652	A A	ACTGCCCC others(50): Show ACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCT AGAGACTG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02738.hp1 NA18972.hp1 NA18984.hp2 others(1): Show HG02738.hp1 NA18972.hp1 NA18984.hp2 NA18995.hp2	a0019 a0055 a0019 a0055	a0019c0018 a0055c0072 a0019c0018 a0055c0072	a0019c0018t0001 a0055c0072t0001 a0019c0018t0001 a0055c0072t0001	a0019c0018t0001g0086 a0019c0018t0001g0106 a0019c0018t0001g0114 others(1): Show a0019c0018t0001g0086 a0019c0018t0001g0106 a0019c0018t0001g0114 a0055c0072t0001g0283	4	368	0.0109	57	c.312 others(66): Show c.3122_3123insTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCC TTCTGGAGAAGTTCTAGAGAC	p.Thr others(72): Show p.Thr1041_Thr1042insAlaAlaProGlyValGluAspIleSerGly LeuProSerGlyGluValLeuGluThr	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	3504/8960	3123/7707	1041/2568	INFO_REALIGN_3_PRIME	chr15	TogoVar
ACAN_chr15_88798436_88880353	88855709	A A	ACTGCCCC others(50): Show ACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCT AGAGACTG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00140.hp1 HG00639.hp2 HG00642.hp1 others(38): Show HG00140.hp1 HG00639.hp2 HG00642.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01168.hp2 HG01169.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01952.hp1 HG02683.hp1 HG02723.hp1 HG03453.hp1 HG03540.hp1 HG03710.hp1 HG03710.hp2 HG06807.hp1 NA18945.hp2 NA18949.hp2 NA18950.hp1 NA18953.hp2 NA18955.hp2 NA18961.hp1 NA18986.hp1 NA18990.hp2 NA18993.hp1 NA19009.hp1 NA19056.hp1 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19091.hp1 NA20905.hp1	a0002 a0011 a0016 others(4): Show a0002 a0011 a0016 a0021 a0064 a0070 a0076	a0002c0001 a0002c0132 a0011c0021 others(8): Show a0002c0001 a0002c0132 a0011c0021 a0011c0121 a0016c0020 a0016c0120 a0021c0040 a0021c0133 a0064c0082 a0070c0167 a0076c0119	a0002c0001t0001 a0002c0001t0014 a0002c0132t0001 others(9): Show a0002c0001t0001 a0002c0001t0014 a0002c0132t0001 a0011c0021t0001 a0011c0121t0001 a0016c0020t0001 a0016c0120t0001 a0021c0040t0001 a0021c0133t0001 a0064c0082t0001 a0070c0167t0001 a0076c0119t0003	a0002c0001t0001g0023 a0002c0001t0001g0058 a0002c0001t0001g0125 others(35): Show a0002c0001t0001g0023 a0002c0001t0001g0058 a0002c0001t0001g0125 a0002c0001t0001g0131 a0002c0001t0001g0133 a0002c0001t0001g0136 a0002c0001t0001g0167 a0002c0001t0001g0168 a0002c0001t0001g0180 a0002c0001t0001g0215 a0002c0001t0001g0223 a0002c0001t0001g0230 a0002c0001t0001g0232 a0002c0001t0001g0233 a0002c0001t0001g0236 a0002c0001t0001g0237 a0002c0001t0001g0254 a0002c0001t0001g0267 a0002c0001t0001g0268 a0002c0001t0001g0325 a0002c0001t0001g0331 a0002c0001t0001g0334 a0002c0001t0001g0341 a0002c0001t0001g0348 a0002c0001t0001g0349 a0002c0001t0014g0054 a0002c0132t0001g0092 a0011c0021t0001g0003 a0011c0021t0001g0297 a0011c0121t0001g0269 a0016c0020t0001g0005 a0016c0020t0001g0067 a0016c0120t0001g0345 a0021c0040t0001g0002 a0021c0133t0001g0161 a0064c0082t0001g0109 a0070c0167t0001g0138 a0076c0119t0003g0265	41	368	0.1114	57	c.317 others(66): Show c.3179_3180insTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCC TTCTGGAGAAGTTCTAGAGAC	p.Thr others(72): Show p.Thr1060_Thr1061insAlaAlaProGlyValGluAspIleSerGly LeuProSerGlyGluValLeuGluThr	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	3561/8960	3180/7707	1060/2568	INFO_REALIGN_3_PRIME	chr15	TogoVar
ACAN_chr15_88798436_88880353	88855709	A A	ACTGCCCC others(107): Show ACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCT AGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAG AAGTTCTAGAGACTG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18970.hp1 NA18992.hp2 NA19011.hp1 NA18970.hp1 NA18992.hp2 NA19011.hp1	a0020 a0020	a0020c0023 a0020c0023	a0020c0023t0001 a0020c0023t0001	a0020c0023t0001g0196 a0020c0023t0001g0241 a0020c0023t0001g0284 a0020c0023t0001g0196 a0020c0023t0001g0241 a0020c0023t0001g0284	3	368	0.0082	114	c.317 others(123): Show c.3179_3180insTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCC TTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCG GGCTTCCTTCTGGAGAAGTTCTAGAGAC	p.Thr others(129): Show p.Thr1060_Thr1061insAlaAlaProGlyValGluAspIleSerGly LeuProSerGlyGluValLeuGluThrAlaAlaProGlyValGluAspIl eSerGlyLeuProSerGlyGluValLeuGluThr	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	3561/8960	3180/7707	1060/2568	INFO_REALIGN_3_PRIME	chr15	TogoVar
ACAN_chr15_88798436_88880353	88855709	A A	ACTGCCCC others(164): Show ACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCT AGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAG AAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCT TCTGGAGAAGTTCTAGAGACTG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19079.hp2 NA19079.hp2	a0072 a0072	a0072c0131 a0072c0131	a0072c0131t0001 a0072c0131t0001	a0072c0131t0001g0314 a0072c0131t0001g0314	1	368	0.0027	171	c.317 others(180): Show c.3179_3180insTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCC TTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCG GGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGAC ATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGAC	p.Thr others(186): Show p.Thr1060_Thr1061insAlaAlaProGlyValGluAspIleSerGly LeuProSerGlyGluValLeuGluThrAlaAlaProGlyValGluAspIl eSerGlyLeuProSerGlyGluValLeuGluThrAlaAlaProGlyValG luAspIleSerGlyLeuProSerGlyGluValLeuGluThr	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	3561/8960	3180/7707	1060/2568	INFO_REALIGN_3_PRIME	chr15	TogoVar
ACAN_chr15_88798436_88880353	88855823	A A	ACTGCCCC others(50): Show ACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCT AGAGACCG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00323.hp2 HG02004.hp2 HG02155.hp1 others(3): Show HG00323.hp2 HG02004.hp2 HG02155.hp1 HG02698.hp2 HG03942.hp2 HG04199.hp2	a0018 a0046 a0099 others(1): Show a0018 a0046 a0099 a0135	a0018c0045 a0018c0149 a0046c0140 others(2): Show a0018c0045 a0018c0149 a0046c0140 a0099c0148 a0135c0185	a0018c0045t0001 a0018c0149t0001 a0046c0140t0001 others(2): Show a0018c0045t0001 a0018c0149t0001 a0046c0140t0001 a0099c0148t0001 a0135c0185t0001	a0018c0045t0001g0080 a0018c0045t0001g0360 a0018c0149t0001g0246 others(3): Show a0018c0045t0001g0080 a0018c0045t0001g0360 a0018c0149t0001g0246 a0046c0140t0001g0342 a0099c0148t0001g0339 a0135c0185t0001g0108	6	368	0.0163	57	c.363 others(66): Show c.3636_3692dupCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCC TTCTGGAGAAGTTCTAGAGAC	p.Thr others(72): Show p.Thr1231_Ala1232insAlaAlaProGlyValGluAspIleSerGly LeuProSerGlyGluValLeuGluThr	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	4074/8960	3693/7707	1231/2568	INFO_REALIGN_3_PRIME	chr15	TogoVar
ACAN_chr15_88798436_88880353	88855936	C C	CGCTGCCC others(50): Show CGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTC TAGAGACT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02809.hp1 HG02886.hp1 HG02896.hp1 others(1): Show HG02809.hp1 HG02886.hp1 HG02896.hp1 HG02897.hp1	a0011 a0022 a0011 a0022	a0011c0109 a0022c0019 a0011c0109 a0022c0019	a0011c0109t0001 a0022c0019t0001 a0011c0109t0001 a0022c0019t0001	a0011c0109t0001g0153 a0022c0019t0001g0202 a0022c0019t0001g0204 others(1): Show a0011c0109t0001g0153 a0022c0019t0001g0202 a0022c0019t0001g0204 a0022c0019t0001g0205	4	368	0.0109	57	c.340 others(66): Show c.3407_3408insTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCC TTCTGGAGAAGTTCTAGAGAC	p.Thr others(72): Show p.Thr1136_Ala1137insAlaAlaProGlyValGluAspIleSerGly LeuProSerGlyGluValLeuGluThr	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	3789/8960	3408/7707	1136/2568	INFO_REALIGN_3_PRIME	chr15	TogoVar
ACAN_chr15_88798436_88880353	88856511	C C	CCCCTGGA others(164): Show CCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAG ACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGT TCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTG GAGAAGTTCTAGAGACTGCTGT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18979.hp1 NA18979.hp1	a0112 a0112	a0112c0094 a0112c0094	a0112c0094t0001 a0112c0094t0001	a0112c0094t0001g0128 a0112c0094t0001g0128	1	368	0.0027	171	c.409 others(180): Show c.4096_4097insTCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTG GAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTT CCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAG CGGGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTG	p.Ala others(186): Show p.Ala1365_Ala1366insValProGlyValGluAspIleSerGlyLeu ProSerGlyGluValLeuGluThrAlaAlaProGlyValGluAspIleSe rGlyLeuProSerGlyGluValLeuGluThrAlaAlaProGlyValGluA spIleSerGlyLeuProSerGlyGluValLeuGluThrAla	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	4478/8960	4097/7707	1366/2568	INFO_REALIGN_3_PRIME	chr15	TogoVar
ACAN_chr15_88798436_88880353	88856511	C C	CCCCTGGA others(50): Show CCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAG ACTGCTGT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01515.hp2 HG01517.hp1 HG01515.hp2 HG01517.hp1	a0049 a0049	a0049c0031 a0049c0031	a0049c0031t0001 a0049c0031t0001	a0049c0031t0001g0082 a0049c0031t0001g0123 a0049c0031t0001g0082 a0049c0031t0001g0123	2	368	0.0054	57	c.398 others(66): Show c.3982_3983insTCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTG GAGAAGTTCTAGAGACTGCTG	p.Ala others(72): Show p.Ala1327_Ala1328insValProGlyValGluAspIleSerGlyLeu ProSerGlyGluValLeuGluThrAla	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	4364/8960	3983/7707	1328/2568	INFO_REALIGN_3_PRIME	chr15	TogoVar
ACAN_chr15_88798436_88880353	88856568	C C	CCCCTGGA others(107): Show CCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAG ACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGT TCTAGAGACTGCTGT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02922.hp1 HG02922.hp1	a0111 a0111	a0111c0099 a0111c0099	a0111c0099t0001 a0111c0099t0001	a0111c0099t0001g0151 a0111c0099t0001g0151	1	368	0.0027	114	c.409 others(123): Show c.4096_4097insTCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTG GAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTT CCTTCTGGAGAAGTTCTAGAGACTGCTG	p.Ala others(129): Show p.Ala1365_Ala1366insValProGlyValGluAspIleSerGlyLeu ProSerGlyGluValLeuGluThrAlaAlaProGlyValGluAspIleSe rGlyLeuProSerGlyGluValLeuGluThrAla	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	4478/8960	4097/7707	1366/2568	INFO_REALIGN_3_PRIME	chr15	TogoVar
ACAN_chr15_88798436_88880353	88856568	C C	CCCCTGGA others(50): Show CCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAG ACTGCTGT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01109.hp2 HG02630.hp2 HG02896.hp2 others(3): Show HG01109.hp2 HG02630.hp2 HG02896.hp2 HG02922.hp2 NA18522.hp2 NA19030.hp2	a0027 a0113 a0114 others(1): Show a0027 a0113 a0114 a0117	a0027c0032 a0027c0102 a0113c0100 others(2): Show a0027c0032 a0027c0102 a0113c0100 a0114c0101 a0117c0098	a0027c0032t0001 a0027c0102t0001 a0113c0100t0001 others(2): Show a0027c0032t0001 a0027c0102t0001 a0113c0100t0001 a0114c0101t0001 a0117c0098t0007	a0027c0032t0001g0220 a0027c0032t0001g0261 a0027c0102t0001g0020 others(3): Show a0027c0032t0001g0220 a0027c0032t0001g0261 a0027c0102t0001g0020 a0113c0100t0001g0017 a0114c0101t0001g0211 a0117c0098t0007g0203	6	368	0.0163	57	c.403 others(66): Show c.4039_4040insTCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTG GAGAAGTTCTAGAGACTGCTG	p.Ala others(72): Show p.Ala1346_Ala1347insValProGlyValGluAspIleSerGlyLeu ProSerGlyGluValLeuGluThrAla	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	4421/8960	4040/7707	1347/2568	INFO_REALIGN_3_PRIME	chr15	TogoVar
ACE_chr17_63472061_63503373	63477132	T T	TGCTGCC TGCTGCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01884.hp2 HG01891.hp2 HG02280.hp2 others(5): Show HG01884.hp2 HG01891.hp2 HG02280.hp2 HG02683.hp2 HG03098.hp2 HG03516.hp2 HG03831.hp2 HG04228.hp2	a0005 a0009 a0005 a0009	a0005c0012 a0005c0020 a0009c0019 a0005c0012 a0005c0020 a0009c0019	a0005c0012t0001 a0005c0020t0001 a0009c0019t0001 a0005c0012t0001 a0005c0020t0001 a0009c0019t0001	a0005c0012t0001g0010 a0005c0012t0001g0051 a0005c0020t0001g0010 others(2): Show a0005c0012t0001g0010 a0005c0012t0001g0051 a0005c0020t0001g0010 a0009c0019t0001g0020 a0009c0019t0001g0043	8	374	0.0214	6	c.50_ others(11): Show c.50_55dupCGCTGC	p.Pro others(11): Show p.Pro17_Leu18dup	ACE	ENSG00000159640.17	transcript	ENST00000290866.10	protein_coding	1/25	90/4962	56/3921	19/1306	INFO_REALIGN_3_PRIME	chr17	TogoVar
ACIN1_chr14_23053564_23100136	23079574	A A	AGAACGT AGAACGT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00099.hp1 HG00438.hp1 HG00438.hp2 others(177): Show HG00099.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01109.hp1 HG01167.hp1 HG01169.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01884.hp1 HG01884.hp2 HG01952.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03471.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18947.hp1 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18955.hp2 NA18957.hp1 NA18963.hp1 NA18965.hp1 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18982.hp2 NA18983.hp2 NA18986.hp1 NA18988.hp1 NA18988.hp2 NA18989.hp2 NA18993.hp1 NA18994.hp2 NA18999.hp2 NA19003.hp1 NA19003.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp2 NA19080.hp2 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19088.hp1 NA19090.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0003 a0005 others(5): Show a0002 a0003 a0005 a0006 a0007 a0009 a0010 a0018	a0002c0002 a0002c0003 a0002c0016 others(12): Show a0002c0002 a0002c0003 a0002c0016 a0002c0028 a0003c0004 a0003c0021 a0005c0005 a0005c0014 a0006c0009 a0006c0019 a0007c0010 a0007c0013 a0009c0015 a0010c0017 a0018c0018	a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 others(17): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 a0002c0003t0001 a0002c0016t0001 a0002c0028t0001 a0003c0004t0001 a0003c0021t0005 a0005c0005t0001 a0005c0005t0002 a0005c0005t0007 a0005c0014t0002 a0006c0009t0001 a0006c0019t0001 a0007c0010t0001 a0007c0010t0003 a0007c0013t0001 a0009c0015t0001 a0010c0017t0001 a0018c0018t0001	a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0029 others(154): Show a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0029 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0100 a0002c0002t0001g0104 a0002c0002t0001g0111 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0123 a0002c0002t0001g0129 a0002c0002t0001g0218 a0002c0002t0002g0056 a0002c0002t0006g0057 a0002c0003t0001g0001 a0002c0003t0001g0011 a0002c0003t0001g0012 a0002c0003t0001g0013 a0002c0003t0001g0055 a0002c0003t0001g0101 a0002c0003t0001g0102 a0002c0003t0001g0103 a0002c0003t0001g0105 a0002c0003t0001g0106 a0002c0003t0001g0107 a0002c0003t0001g0108 a0002c0003t0001g0109 a0002c0003t0001g0110 a0002c0003t0001g0112 a0002c0003t0001g0113 a0002c0003t0001g0114 a0002c0003t0001g0117 a0002c0003t0001g0118 a0002c0003t0001g0119 a0002c0003t0001g0120 a0002c0003t0001g0121 a0002c0003t0001g0122 a0002c0003t0001g0124 a0002c0003t0001g0125 a0002c0003t0001g0126 a0002c0003t0001g0127 a0002c0003t0001g0128 a0002c0003t0001g0130 a0002c0003t0001g0131 a0002c0003t0001g0132 a0002c0003t0001g0133 a0002c0003t0001g0134 a0002c0003t0001g0135 a0002c0003t0001g0137 a0002c0003t0001g0142 a0002c0016t0001g0026 a0002c0016t0001g0027 a0002c0028t0001g0136 a0003c0004t0001g0002 a0003c0004t0001g0006 a0003c0004t0001g0010 a0003c0004t0001g0030 a0003c0004t0001g0069 a0003c0004t0001g0070 a0003c0004t0001g0071 a0003c0004t0001g0072 a0003c0004t0001g0073 a0003c0004t0001g0074 a0003c0004t0001g0076 a0003c0004t0001g0077 a0003c0004t0001g0078 a0003c0004t0001g0079 a0003c0004t0001g0080 a0003c0004t0001g0081 a0003c0004t0001g0082 a0003c0004t0001g0083 a0003c0004t0001g0084 a0003c0004t0001g0085 a0003c0004t0001g0086 a0003c0004t0001g0087 a0003c0004t0001g0088 a0003c0004t0001g0089 a0003c0004t0001g0090 a0003c0004t0001g0091 a0003c0004t0001g0092 a0003c0004t0001g0093 a0003c0004t0001g0094 a0003c0004t0001g0095 a0003c0021t0005g0075 a0005c0005t0001g0192 a0005c0005t0001g0213 a0005c0005t0002g0018 a0005c0005t0002g0199 a0005c0005t0002g0200 a0005c0005t0002g0201 a0005c0005t0002g0203 a0005c0005t0002g0204 a0005c0005t0002g0205 a0005c0005t0002g0206 a0005c0005t0002g0207 a0005c0005t0002g0208 a0005c0005t0002g0209 a0005c0005t0002g0210 a0005c0005t0007g0202 a0005c0014t0002g0212 a0005c0014t0002g0214 a0005c0014t0002g0215 a0006c0009t0001g0017 a0006c0009t0001g0193 a0006c0009t0001g0194 a0006c0009t0001g0195 a0006c0009t0001g0196 a0006c0009t0001g0198 a0006c0019t0001g0028 a0007c0010t0001g0146 a0007c0010t0001g0147 a0007c0010t0001g0148 a0007c0010t0001g0149 a0007c0010t0003g0143 a0007c0013t0001g0144 a0007c0013t0001g0145 a0007c0013t0001g0150 a0009c0015t0001g0301 a0009c0015t0001g0302 a0009c0015t0001g0303 a0010c0017t0001g0304 a0010c0017t0001g0305 a0018c0018t0001g0025	180	350	0.5143	6	c.175 others(15): Show c.1755_1760dupACGTTC	p.Ser others(19): Show p.Ser587_Arg588insArgSer	ACIN1	ENSG00000100813.15	transcript	ENST00000605057.6	protein_coding	6/19	1784/4460	1760/3852	587/1283		chr14	TogoVar
ACIN1_chr14_23053564_23100136	23079574	A A	AGAACGTG others(5): Show AGAACGTGAACGT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02647.hp2 HG03098.hp1 HG03195.hp2 others(2): Show HG02647.hp2 HG03098.hp1 HG03195.hp2 HG03453.hp1 HG03516.hp2	a0008 a0017 a0008 a0017	a0008c0011 a0017c0029 a0008c0011 a0017c0029	a0008c0011t0001 a0017c0029t0001 a0008c0011t0001 a0017c0029t0001	a0008c0011t0001g0020 a0008c0011t0001g0244 a0008c0011t0001g0245 others(1): Show a0008c0011t0001g0020 a0008c0011t0001g0244 a0008c0011t0001g0245 a0017c0029t0001g0216	5	350	0.0143	12	c.174 others(21): Show c.1749_1760dupACGTTCACGTTC	p.Ser others(25): Show p.Ser587_Arg588insArgSerArgSer	ACIN1	ENSG00000100813.15	transcript	ENST00000605057.6	protein_coding	6/19	1784/4460	1760/3852	587/1283		chr14	TogoVar
ACP5_chr19_11569660_11582645	11576760	G G	GCCAAGGT others(32): Show GCCAAGGTGGTATCATCTGCTCATTCCATCTCATCAATGT	stop_gained others(1): Show stop_gained disruptive_inframe_insertion	HIGH	HG03704.hp2 HG03704.hp2	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0002 a0008c0013t0002	a0008c0013t0002g0049 a0008c0013t0002g0049	1	444	0.0023	39	c.344 others(46): Show c.344_345insACATTGATGAGATGGAATGAGCAGATGATACCACCTTG G	p.Gly others(52): Show p.Gly115_Asn116insHisTerTerAspGlyMetSerArgTerTyrHi sLeuGly	ACP5	ENSG00000102575.14	transcript	ENST00000648477.1	protein_coding	3/5	397/1381	344/978	115/325		chr19	TogoVar
ACSM5_chr16_20404534_20446336	20418259	C C	CATGCGG CATGCGG	disruptive_inframe_insertion others(1): Show disruptive_inframe_insertion splice_region_variant	MODERATE	NA18978.hp1 NA18978.hp2 NA19090.hp2 NA18978.hp1 NA18978.hp2 NA19090.hp2	a0014 a0021 a0014 a0021	a0014c0019 a0021c0042 a0014c0019 a0021c0042	a0014c0019t0001 a0014c0019t0021 a0021c0042t0003 a0014c0019t0001 a0014c0019t0021 a0021c0042t0003	a0014c0019t0001g0252 a0014c0019t0021g0106 a0021c0042t0003g0118 a0014c0019t0001g0252 a0014c0019t0021g0106 a0021c0042t0003g0118	3	434	0.0069	6	c.407 others(13): Show c.407_412dupTGCGGA	p.Met others(13): Show p.Met136_Arg137dup	ACSM5	ENSG00000183549.10	transcript	ENST00000331849.8	protein_coding	3/14	560/2796	413/1740	138/579	INFO_REALIGN_3_PRIME	chr16	TogoVar
ADAM29_chr4_174913358_174983180	174977850	T T	TCAGAGTC others(47): Show TCAGAGTCAACCTCCTGTGATGCCTTCCCAGAGTCATCCTCAGTTGACGC CTTCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00544.hp1 HG00642.hp2 HG00735.hp2 others(52): Show HG00544.hp1 HG00642.hp2 HG00735.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01106.hp1 HG01123.hp1 HG01168.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01884.hp2 HG02040.hp1 HG02071.hp2 HG02083.hp1 HG02273.hp2 HG02486.hp2 HG03239.hp1 HG03492.hp1 HG03654.hp1 HG03710.hp1 HG03831.hp1 HG03942.hp2 NA18939.hp1 NA18947.hp2 NA18949.hp2 NA18957.hp1 NA18962.hp2 NA18964.hp2 NA18970.hp1 NA18972.hp1 NA18973.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp2 NA18992.hp1 NA19002.hp2 NA19010.hp2 NA19030.hp2 NA19060.hp1 NA19062.hp2 NA19074.hp1 NA19080.hp1 NA19081.hp2 NA19082.hp2 NA19085.hp1 NA19086.hp1 NA19091.hp2 NA19240.hp1 NA20752.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(2): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0012	a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 others(45): Show a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0101 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0118 a0002c0002t0001g0125 a0002c0002t0001g0150 a0002c0002t0001g0155 a0002c0002t0001g0168 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0183 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0197 a0002c0002t0001g0200 a0002c0002t0001g0203 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0207 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0237 a0002c0002t0002g0254 a0002c0002t0002g0262 a0002c0002t0002g0266 a0002c0002t0003g0042 a0002c0002t0003g0063 a0002c0002t0003g0065 a0002c0002t0003g0070 a0002c0002t0003g0072 a0002c0002t0004g0002 a0002c0002t0004g0075 a0002c0002t0004g0077 a0002c0002t0004g0080 a0002c0002t0004g0081 a0002c0002t0004g0083 a0002c0002t0004g0084 a0002c0002t0004g0086 a0002c0002t0004g0089 a0002c0002t0004g0093 a0002c0002t0004g0096 a0002c0002t0012g0049	55	330	0.1667	54	c.234 others(63): Show c.2345_2398dupTGCCTTCCCAGAGTCATCCTCAGTTGACGCCTTCCC AGAGTCAACCTCCTGTGA	p.Met others(13): Show p.Met782_Val799dup	ADAM29	ENSG00000168594.15	transcript	ENST00000359240.7	protein_coding	5/5	3069/3325	2399/2463	800/820	INFO_REALIGN_3_PRIME	chr4	TogoVar
ADAM30_chr1_119888533_119901515	119894015	G G	GTTTGCTT others(20): Show GTTTGCTTTAGATTCTTCCTGTCCAGTT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02451.hp2 HG02451.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0002 a0007c0008t0002	a0007c0008t0002g0000 a0007c0008t0002g0000	1	388	0.0026	27	c.229 others(36): Show c.2295_2321dupAACTGGACAGGAAGAATCTAAAGCAAA	p.Lys others(13): Show p.Lys765_Ala773dup	ADAM30	ENSG00000134249.7	transcript	ENST00000369400.2	protein_coding	1/1	2500/2983	2321/2373	774/790		chr1	TogoVar
ADAM33_chr20_3662975_3687010	3677117	C C	CTGGAGGC others(5): Show CTGGAGGCTGAAG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19076.hp1 NA19076.hp1	a0019 a0019	a0019c0046 a0019c0046	a0019c0046t0003 a0019c0046t0003	a0019c0046t0003g0309 a0019c0046t0003g0309	1	462	0.0022	12	c.203 others(19): Show c.203_204insCTTCAGCCTCCA	p.Val others(23): Show p.Val68_Ala69insPheSerLeuGln	ADAM33	ENSG00000149451.19	transcript	ENST00000356518.7	protein_coding	3/22	209/3436	203/2442	68/813		chr20	TogoVar
ADCY1_chr7_45569368_45728116	45574559	C C	CGCGGCGG others(5): Show CGCGGCGGAGGCG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00673.hp1 HG02155.hp2 NA18960.hp2 HG00673.hp1 HG02155.hp2 NA18960.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0002 a0003c0004t0037 a0003c0004t0001 a0003c0004t0002 a0003c0004t0037	a0003c0004t0001g0225 a0003c0004t0002g0136 a0003c0004t0037g0055 a0003c0004t0001g0225 a0003c0004t0002g0136 a0003c0004t0037g0055	3	278	0.0108	12	c.32_ others(17): Show c.32_43dupGCGGAGGCGGCG	p.Gly others(11): Show p.Gly11_Gly14dup	ADCY1	ENSG00000164742.16	transcript	ENST00000297323.12	protein_coding	1/20	220/12657	44/3360	15/1119	INFO_REALIGN_3_PRIME	chr7	TogoVar
ADGRA2_chr8_37791883_37849896	37841672	G G	GAGGGGCC others(8): Show GAGGGGCCCCCCTCCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18978.hp1 NA18978.hp1	a0017 a0017	a0017c0041 a0017c0041	a0017c0041t0001 a0017c0041t0001	a0017c0041t0001g0335 a0017c0041t0001g0335	1	370	0.0027	15	c.333 others(24): Show c.3338_3339insGCCCCCCTCCCAGGG	p.Gly others(30): Show p.Gly1113_Pro1114insProProSerGlnGly	ADGRA2	ENSG00000020181.18	transcript	ENST00000412232.3	protein_coding	19/19	3725/6944	3339/4017	1113/1338	INFO_REALIGN_3_PRIME	chr8	TogoVar
ADPRHL1_chr13_113394611_113458488	113404089	C C	CCCTTTCT others(221): Show CCCTTTCTGGGCCTGACCCTGAGCCTCTATGTGGGTCTGCTCCCAACCCT GTTCCCAAGCCCGTTCCTGAGCCCCTTTCTGGGTCTGCCTCTGAGTCTCT ATCTGGGTCTGCTCCCAGCCCTGATCCCGAGCCCGATCCCGAGCCCATTC CTGAGCCCCTTTCTGGGCCTGACCCTGAGCCTCTATGTGGGTCTGCTCCC GACCCTGTTCCTGAGCCCGTTCCTGAGCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00099.hp1 HG01516.hp1 HG02738.hp2 HG00099.hp1 HG01516.hp1 HG02738.hp2	a0003 a0018 a0003 a0018	a0003c0015 a0018c0063 a0003c0015 a0018c0063	a0003c0015t0009 a0003c0015t0087 a0018c0063t0088 a0003c0015t0009 a0003c0015t0087 a0018c0063t0088	a0003c0015t0009g0118 a0003c0015t0087g0030 a0018c0063t0088g0228 a0003c0015t0009g0118 a0003c0015t0087g0030 a0018c0063t0088g0228	3	262	0.0115	228	c.519 others(237): Show c.5192_5193insAGCTCAGGAACGGGCTCAGGAACAGGGTCGGGAGCA GACCCACATAGAGGCTCAGGGTCAGGCCCAGAAAGGGGCTCAGGAATGGG CTCGGGATCGGGCTCGGGATCAGGGCTGGGAGCAGACCCAGATAGAGACT CAGAGGCAGACCCAGAAAGGGGCTCAGGAACGGGCTTGGGAACAGGGTTG GGAGCAGACCCACATAGAGGCTCAGGGTCAGGCCCAGAAAGG	p.Gly others(243): Show p.Gly1731_Ala1732insAlaGlnGluArgAlaGlnGluGlnGlyArg GluGlnThrHisIleGluAlaGlnGlyGlnAlaGlnLysGlyAlaGlnGl uTrpAlaArgAspArgAlaArgAspGlnGlyTrpGluGlnThrGlnIleG luThrGlnArgGlnThrGlnLysGlyAlaGlnGluArgAlaTrpGluGln GlyTrpGluGlnThrHisIleGluAlaGlnGlyGlnAlaGlnLysGly	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	8/8	5243/9722	5192/5904	1731/1967		chr13	TogoVar
ADPRS_chr1_36083892_36098932	36088903	G G	GGATGGCC others(8): Show GGATGGCCGCAGCGGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0007 a0001c0001t0003g0007	1	410	0.0024	15	c.6_2 others(19): Show c.6_20dupCGCAGCGGCGATGGC	p.Ala others(24): Show p.Ala7_Ala8insAlaAlaAlaMetAla	ADPRS	ENSG00000116863.11	transcript	ENST00000373178.5	protein_coding	1/6	34/1651	21/1092	7/363	INFO_REALIGN_3_PRIME	chr1	TogoVar
AGGF1_chr5_77025404_77070234	77030783	C C	CGTCCCCG others(5): Show CGTCCCCGCCGCG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02698.hp1 HG02698.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0004 a0006c0006t0004	a0006c0006t0004g0115 a0006c0006t0004g0115	1	438	0.0023	12	c.21_ others(17): Show c.21_32dupCCCGCCGCGGTC	p.Ser others(23): Show p.Ser11_Pro12insProProArgSer	AGGF1	ENSG00000164252.13	transcript	ENST00000312916.12	protein_coding	1/14	396/4490	33/2145	11/714	INFO_REALIGN_3_PRIME	chr5	TogoVar
AGRN_chr1_1015120_1061116	1054431	C C	CCTCCCTG others(11): Show CCTCCCTGCACACCCAGGG	disruptive_inframe_insertion others(1): Show disruptive_inframe_insertion splice_region_variant	MODERATE	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0010 a0001c0013t0010	a0001c0013t0010g0011 a0001c0013t0010g0011	1	210	0.0048	18	c.587 others(30): Show c.5877-16_5878dupCTCCCTGCACACCCAGGG	p.Arg others(33): Show p.Arg1959_Glu1960insAlaProCysThrProArg	AGRN	ENSG00000188157.15	transcript	ENST00000379370.7	protein_coding	35/36	5932/7326	5879/6138	1960/2045	INFO_REALIGN_3_PRIME	chr1	TogoVar
AHNAK2_chr14_104932253_104983374	104945938	T T	TGGCGCAG others(488): Show TGGCGCAGACACATCCACCAAGACCTCAATGGACTTGCCTGGGGCAGACA CCCCGAACGACGGCATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTG GCAGTCACATCCTTGTCGGCCAGGGACAGGTCCCCCTCCAGCCGTGCACC ATCCAACTTGGCTCCTGGGGCCTCGACATCCACCTCCATGCCGGGCTGAG ACACCTCCACGTCGGGGGCCGTCACGTCCGTCTTCGGGCCTTTCAGGTCC AGCTTGGGGCCCTTGATGTCTATCTGGGGGCCCTTGTGATCTACTTTGGG CATCTTGAAACTGGGCATCTGCAACTTGGGCAGGTGCCCTTTGAGGCCAG CTCCCTCGAGAACGTGGCCCTCTGGGAGCTTCACGTCCACCTGGCCAGCC TGGACCTCCAGTTGGGCAGAGGGGGGCTCAATGCTGATGTCAGTGTTCTT CAGGTCCCCCTGCATGGAGGGGAGGCTCACGTCGGCCTCCACCTTC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01884.hp2 HG02717.hp2 HG01884.hp2 HG02717.hp2	a0075 a0076 a0075 a0076	a0075c0164 a0076c0163 a0075c0164 a0076c0163	a0075c0164t0001 a0076c0163t0001 a0075c0164t0001 a0076c0163t0001	a0075c0164t0001g0301 a0076c0163t0001g0300 a0075c0164t0001g0301 a0076c0163t0001g0300	2	356	0.0056	495	c.951 others(504): Show c.9512_9513insGAAGGTGGAGGCCGACGTGAGCCTCCCCTCCATGCA GGGGGACCTGAAGAACACTGACATCAGCATTGAGCCCCCCTCTGCCCAAC TGGAGGTCCAGGCTGGCCAGGTGGACGTGAAGCTCCCAGAGGGCCACGTT CTCGAGGGAGCTGGCCTCAAAGGGCACCTGCCCAAGTTGCAGATGCCCAG TTTCAAGATGCCCAAAGTAGATCACAAGGGCCCCCAGATAGACATCAAGG GCCCCAAGCTGGACCTGAAAGGCCCGAAGACGGACGTGACGGCCCCCGAC GTGGAGGTGTCTCAGCCCGGCATGGAGGTGGATGTCGAGGCCCCAGGAGC CAAGTTGGATGGTGCACGGCTGGAGGGGGACCTGTCCCTGGCCGACAAGG ATGTGACTGCCAAAGACAGCAAGTTCAAAATGCCCAAGTTCAAGATGCCG TCGTTCGGGGTGTCTGCCCCAGGCAAGTCCATTGAGGTCTTGGTGGATGT GTCTGCGCC	p.Pro others(510): Show p.Pro3171_Lys3172insLysValGluAlaAspValSerLeuProSer MetGlnGlyAspLeuLysAsnThrAspIleSerIleGluProProSerAl aGlnLeuGluValGlnAlaGlyGlnValAspValLysLeuProGluGlyH isValLeuGluGlyAlaGlyLeuLysGlyHisLeuProLysLeuGlnMet ProSerPheLysMetProLysValAspHisLysGlyProGlnIleAspIl eLysGlyProLysLeuAspLeuLysGlyProLysThrAspValThrAlaP roAspValGluValSerGlnProGlyMetGluValAspValGluAlaPro GlyAlaLysLeuAspGlyAlaArgLeuGluGlyAspLeuSerLeuAlaAs pLysAspValThrAlaLysAspSerLysPheLysMetProLysPheLysM etProSerPheGlyValSerAlaProGlyLysSerIleGluValLeuVal AspValSerAlaPro	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	9649/18335	9512/17388	3171/5795		chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948485	C C	CTTGGGCA others(488): Show CTTGGGCATTTTGAACTTGCTGTCTTTGGTAGTCACGTCCTTGTTGGCCA GGGTCAGGTCCCCCTGCAGATGCGCACTATCCAGCTTGGCTCTTGGGGCC TGGACATCCACCTCCATGCTGGGCAGAGACACCTCGACATCGGGGACTCT CACTTCCACCTTGGGGTCTTTTAGGTCCAGTTTGGGGCCCTTGATGTCCA CCTGGGGGCCCTTGAGGTCCACTTCGGGCATCTTCAAACTGGGCATCTCC ACCTTGGGCAGGTGCCCTTTGAGGCCAGCTCCCTCGGGCACCTGGCCCTC CGGGAGCTTCACATCCACCTGGCCAGTCTGGACCTTCAGGTCGGCAGAAG GGGGCTGAATGCTGAGGTCAGTGGTCTTCAGGTCCCCCTGCATGGAGGGG AGACTCACGTCGGCCTCCACCTTGGGTGCAGGCACATCCACCGAGGCCTC GATGGACCTCCCTGGGGCCGATACCCCGAACGACGGCATCTTGAAT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02257.hp1 HG02257.hp1	a0071 a0071	a0071c0177 a0071c0177	a0071c0177t0002 a0071c0177t0002	a0071c0177t0002g0144 a0071c0177t0002g0144	1	356	0.0028	495	c.696 others(504): Show c.6965_6966insATTCAAGATGCCGTCGTTCGGGGTATCGGCCCCAGG GAGGTCCATCGAGGCCTCGGTGGATGTGCCTGCACCCAAGGTGGAGGCCG ACGTGAGTCTCCCCTCCATGCAGGGGGACCTGAAGACCACTGACCTCAGC ATTCAGCCCCCTTCTGCCGACCTGAAGGTCCAGACTGGCCAGGTGGATGT GAAGCTCCCGGAGGGCCAGGTGCCCGAGGGAGCTGGCCTCAAAGGGCACC TGCCCAAGGTGGAGATGCCCAGTTTGAAGATGCCCGAAGTGGACCTCAAG GGCCCCCAGGTGGACATCAAGGGCCCCAAACTGGACCTAAAAGACCCCAA GGTGGAAGTGAGAGTCCCCGATGTCGAGGTGTCTCTGCCCAGCATGGAGG TGGATGTCCAGGCCCCAAGAGCCAAGCTGGATAGTGCGCATCTGCAGGGG GACCTGACCCTGGCCAACAAGGACGTGACTACCAAAGACAGCAAGTTCAA AATGCCCAA	p.Lys others(510): Show p.Lys2322_Phe2323insPheLysMetProSerPheGlyValSerAla ProGlyArgSerIleGluAlaSerValAspValProAlaProLysValGl uAlaAspValSerLeuProSerMetGlnGlyAspLeuLysThrThrAspL euSerIleGlnProProSerAlaAspLeuLysValGlnThrGlyGlnVal AspValLysLeuProGluGlyGlnValProGluGlyAlaGlyLeuLysGl yHisLeuProLysValGluMetProSerLeuLysMetProGluValAspL euLysGlyProGlnValAspIleLysGlyProLysLeuAspLeuLysAsp ProLysValGluValArgValProAspValGluValSerLeuProSerMe tGluValAspValGlnAlaProArgAlaLysLeuAspSerAlaHisLeuG lnGlyAspLeuThrLeuAlaAsnLysAspValThrThrLysAspSerLys PheLysMetProLys	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7102/18335	6965/17388	2322/5795		chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949958	C C	CGGCATCT others(488): Show CGGCATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGGCAGTCACAT CCTTGTCGGCCAGGGACAGGTCACCCTCCAGCCGCACACTGTCCAGCTTG GCTCCTGGAGCCTCGACGTCCACCTCCACGCTGGGCAGAGACACCTCCAC GTCGGGGGCCATCACCTCCGCCTTGGGGCCTTTCAGGTCCAGCTTGGGGC CCTTGACGTCCATCTGGGGGCCCTTGAGGGCCACTTTGGGCATCTTCAAA CTGGGCATCTGCACCTTGGGGAGGTGCCCTTTGAAGCCGGCTCCCTCGGG AAGGGGGCCCTCCGGGAGTTTCACGTTCACTTGGCCAGCCTGGACCTCCA GGTCGGCGGAAGGGGACTGAATGCTGAGGTCAGTGGTCTTCAGGTCCCCC TGCATGGAGGGGAGGCTCACATCAGCTTCCACCTTCGGCTCAGACACATC CACCGAGGCCTCGATGGACTTGCCTGGGGCCGACACCCCAAATGAT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03471.hp2 HG03471.hp2	a0162 a0162	a0162c0077 a0162c0077	a0162c0077t0001 a0162c0077t0001	a0162c0077t0001g0094 a0162c0077t0001g0094	1	356	0.0028	495	c.499 others(504): Show c.4998_5492dupATCATTTGGGGTGTCGGCCCCAGGCAAGTCCATCGA GGCCTCGGTGGATGTGTCTGAGCCGAAGGTGGAAGCTGATGTGAGCCTCC CCTCCATGCAGGGGGACCTGAAGACCACTGACCTCAGCATTCAGTCCCCT TCCGCCGACCTGGAGGTCCAGGCTGGCCAAGTGAACGTGAAACTCCCGGA GGGCCCCCTTCCCGAGGGAGCCGGCTTCAAAGGGCACCTCCCCAAGGTGC AGATGCCCAGTTTGAAGATGCCCAAAGTGGCCCTCAAGGGCCCCCAGATG GACGTCAAGGGCCCCAAGCTGGACCTGAAAGGCCCCAAGGCGGAGGTGAT GGCCCCCGACGTGGAGGTGTCTCTGCCCAGCGTGGAGGTGGACGTCGAGG CTCCAGGAGCCAAGCTGGACAGTGTGCGGCTGGAGGGTGACCTGTCCCTG GCCGACAAGGATGTGACTGCCAAAGACAGCAAGTTCAAAATGCCCAAGTT CAAGATGCC	p.Pro others(510): Show p.Pro1831_Ser1832insSerPheGlyValSerAlaProGlyLysSer IleGluAlaSerValAspValSerGluProLysValGluAlaAspValSe rLeuProSerMetGlnGlyAspLeuLysThrThrAspLeuSerIleGlnS erProSerAlaAspLeuGluValGlnAlaGlyGlnValAsnValLysLeu ProGluGlyProLeuProGluGlyAlaGlyPheLysGlyHisLeuProLy sValGlnMetProSerLeuLysMetProLysValAlaLeuLysGlyProG lnMetAspValLysGlyProLysLeuAspLeuLysGlyProLysAlaGlu ValMetAlaProAspValGluValSerLeuProSerValGluValAspVa lGluAlaProGlyAlaLysLeuAspSerValArgLeuGluGlyAspLeuS erLeuAlaAspLysAspValThrAlaLysAspSerLysPheLysMetPro LysPheLysMetPro	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5629/18335	5492/17388	1831/5795		chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951386	T T	TGGAGACA others(488): Show TGGAGACACATCCACCGAGGCCTCGATGGACCTCCCTGGGGCCGATACCC CGAACGACGGCATCTTGAATTTGGGCATTTTGAACTTGCTGTCTTTGGCA GTCATGTCCTTGTCGGCCAGGGACAGGTCTCCCTCCAGCCGCGCACCATC CAGCTTAGCCTTCTGGGCCTGGACATCCACCTCCATGCTGGGCAGAGACA CCTCGACATCGGGGGCTGTCACTTCCGCCTTGGGGCCTTTCAGGTCCAGC TTGGCGCCCTTAACATCCGTCTGGGGGCCCTTGAGGTCCACTTTGGGCAT CTTGAAACTGGGCATATCCACCTTGGGCAAGTGCCCTTTGAGGCCGGCTC CCTCGGGCACCTGGCCCTCCGGGAGCTTCATGTCCACTTGGCCAGCCTGG ACCACCAGGTCTGCAGAAGGGAGCGGAATGCAGAGGTCCGTGGTCTTGAG GTCCCCCTGCATGGAGGGGAGGCTCACATCGGCCTCCACCTTCGGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03688.hp1 HG03688.hp1	a0114 a0114	a0114c0225 a0114c0225	a0114c0225t0002 a0114c0225t0002	a0114c0225t0002g0234 a0114c0225t0002g0234	1	356	0.0028	495	c.406 others(504): Show c.4064_4065insGCCGAAGGTGGAGGCCGATGTGAGCCTCCCCTCCAT GCAGGGGGACCTCAAGACCACGGACCTCTGCATTCCGCTCCCTTCTGCAG ACCTGGTGGTCCAGGCTGGCCAAGTGGACATGAAGCTCCCGGAGGGCCAG GTGCCCGAGGGAGCCGGCCTCAAAGGGCACTTGCCCAAGGTGGATATGCC CAGTTTCAAGATGCCCAAAGTGGACCTCAAGGGCCCCCAGACGGATGTTA AGGGCGCCAAGCTGGACCTGAAAGGCCCCAAGGCGGAAGTGACAGCCCCC GATGTCGAGGTGTCTCTGCCCAGCATGGAGGTGGATGTCCAGGCCCAGAA GGCTAAGCTGGATGGTGCGCGGCTGGAGGGAGACCTGTCCCTGGCCGACA AGGACATGACTGCCAAAGACAGCAAGTTCAAAATGCCCAAATTCAAGATG CCGTCGTTCGGGGTATCGGCCCCAGGGAGGTCCATCGAGGCCTCGGTGGA TGTGTCTCC	p.Ala others(510): Show p.Ala1355_Pro1356insProLysValGluAlaAspValSerLeuPro SerMetGlnGlyAspLeuLysThrThrAspLeuCysIleProLeuProSe rAlaAspLeuValValGlnAlaGlyGlnValAspMetLysLeuProGluG lyGlnValProGluGlyAlaGlyLeuLysGlyHisLeuProLysValAsp MetProSerPheLysMetProLysValAspLeuLysGlyProGlnThrAs pValLysGlyAlaLysLeuAspLeuLysGlyProLysAlaGluValThrA laProAspValGluValSerLeuProSerMetGluValAspValGlnAla GlnLysAlaLysLeuAspGlyAlaArgLeuGluGlyAspLeuSerLeuAl aAspLysAspMetThrAlaLysAspSerLysPheLysMetProLysPheL ysMetProSerPheGlyValSerAlaProGlyArgSerIleGluAlaSer ValAspValSerPro	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4201/18335	4064/17388	1355/5795		chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104952121	C C	CAGGTCCA others(488): Show CAGGTCCAGCTTGGGGCCCTTGATGTCCACCTGGGGGCCCTTGATGTCCA CTTTGGGCATCTTGAAACTGGGCATCTGCACCTTGGGCAGGTGCCCTTTG AGGCCGGCTCCCTCGGGAACGTGGCCCTCCAGGAGTTTCACGTCCACCTG GCCAGCCTGGACCTTCAGGTCGGTGGAAGGGGGCTGAATGCTGAGGTCAG TGGCCTTCAGGTCCCCCTGCATGGAGGGGAGACTCACGTCGGCCTCCACT TTGGGTGCAGACACATCCACCATGGCCTCGATGGACTTGCCTGGGGCAGA CACCCCAAACGACGGCATCTTGAACTTGGGCATTTTGAACCTGCTGTCTT TGGCAGTCACATCCTTGTCGGCCAAGGACAGGTCCCCCTCCAACTGTGCA CTATCCAGCTTGGCTCTCCGAGCCTGGACGTCCACCTCGACGCTGGGCAG AGACACCTCGACATCGGGGACTCTCACTTCCACCTTGGGGTCTTTT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19030.hp1 NA19030.hp1	a0067 a0067	a0067c0058 a0067c0058	a0067c0058t0002 a0067c0058t0002	a0067c0058t0002g0302 a0067c0058t0002g0302	1	356	0.0028	495	c.332 others(504): Show c.3329_3330insAAAAGACCCCAAGGTGGAAGTGAGAGTCCCCGATGT CGAGGTGTCTCTGCCCAGCGTCGAGGTGGACGTCCAGGCTCGGAGAGCCA AGCTGGATAGTGCACAGTTGGAGGGGGACCTGTCCTTGGCCGACAAGGAT GTGACTGCCAAAGACAGCAGGTTCAAAATGCCCAAGTTCAAGATGCCGTC GTTTGGGGTGTCTGCCCCAGGCAAGTCCATCGAGGCCATGGTGGATGTGT CTGCACCCAAAGTGGAGGCCGACGTGAGTCTCCCCTCCATGCAGGGGGAC CTGAAGGCCACTGACCTCAGCATTCAGCCCCCTTCCACCGACCTGAAGGT CCAGGCTGGCCAGGTGGACGTGAAACTCCTGGAGGGCCACGTTCCCGAGG GAGCCGGCCTCAAAGGGCACCTGCCCAAGGTGCAGATGCCCAGTTTCAAG ATGCCCAAAGTGGACATCAAGGGCCCCCAGGTGGACATCAAGGGCCCCAA GCTGGACCT	p.Leu others(510): Show p.Leu1110_Lys1111insLysAspProLysValGluValArgValPro AspValGluValSerLeuProSerValGluValAspValGlnAlaArgAr gAlaLysLeuAspSerAlaGlnLeuGluGlyAspLeuSerLeuAlaAspL ysAspValThrAlaLysAspSerArgPheLysMetProLysPheLysMet ProSerPheGlyValSerAlaProGlyLysSerIleGluAlaMetValAs pValSerAlaProLysValGluAlaAspValSerLeuProSerMetGlnG lyAspLeuLysAlaThrAspLeuSerIleGlnProProSerThrAspLeu LysValGlnAlaGlyGlnValAspValLysLeuLeuGluGlyHisValPr oGluGlyAlaGlyLeuLysGlyHisLeuProLysValGlnMetProSerP heLysMetProLysValAspIleLysGlyProGlnValAspIleLysGly ProLysLeuAspLeu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	3466/18335	3329/17388	1110/5795		chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104952184	G G	GAAACTGG others(488): Show GAAACTGGGCATCTGCACCTTGGGCAGGTGCCCTTTGAGGCCGGCTCCCT CGGGAACGTGGCCCTCCAGGAGTTTCACGTCCACCTGGCCAGCCTGGACC TTCAGGTCGGTGGAAGGGGGCTGAATGCTGAGGTCAGTGGCCTTCAGGTC CCCCTGCATGGAGGGGAGACTCACGTCGGCCTCCACTTTGGGTGCAGACA CATCCACCATGGCCTCGATGGACTTGCCTGGGGCAGACACCCCAAACGAC GGCATCTTGAACTTGGGCATTTTGAACCTGCTGTCTTTGGCAGTCACATC CTTGTCGGCCAAGGACAGGTCCCCCTCCAACTGTGCACTATCCAGCTTGG CTCTCCGAGCCTGGACGTCCACCTCGACGCTGGGCAGAGACACCTCGACA TCGGGGACTCTCACTTCCACCTTGGGGTCTTTTAGGTCCAGCTTGGGGCC CTTGATGTCCACCTGGGGGCCCTTGAGGTCCACTTTGGGCATCTTC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18995.hp1 NA18995.hp1	a0092 a0092	a0092c0191 a0092c0191	a0092c0191t0001 a0092c0191t0001	a0092c0191t0001g0196 a0092c0191t0001g0196	1	356	0.0028	495	c.326 others(504): Show c.3266_3267insGAAGATGCCCAAAGTGGACCTCAAGGGCCCCCAGGT GGACATCAAGGGCCCCAAGCTGGACCTAAAAGACCCCAAGGTGGAAGTGA GAGTCCCCGATGTCGAGGTGTCTCTGCCCAGCGTCGAGGTGGACGTCCAG GCTCGGAGAGCCAAGCTGGATAGTGCACAGTTGGAGGGGGACCTGTCCTT GGCCGACAAGGATGTGACTGCCAAAGACAGCAGGTTCAAAATGCCCAAGT TCAAGATGCCGTCGTTTGGGGTGTCTGCCCCAGGCAAGTCCATCGAGGCC ATGGTGGATGTGTCTGCACCCAAAGTGGAGGCCGACGTGAGTCTCCCCTC CATGCAGGGGGACCTGAAGGCCACTGACCTCAGCATTCAGCCCCCTTCCA CCGACCTGAAGGTCCAGGCTGGCCAGGTGGACGTGAAACTCCTGGAGGGC CACGTTCCCGAGGGAGCCGGCCTCAAAGGGCACCTGCCCAAGGTGCAGAT GCCCAGTTT	p.Ser others(510): Show p.Ser1088_Phe1089insLeuLysMetProLysValAspLeuLysGly ProGlnValAspIleLysGlyProLysLeuAspLeuLysAspProLysVa lGluValArgValProAspValGluValSerLeuProSerValGluValA spValGlnAlaArgArgAlaLysLeuAspSerAlaGlnLeuGluGlyAsp LeuSerLeuAlaAspLysAspValThrAlaLysAspSerArgPheLysMe tProLysPheLysMetProSerPheGlyValSerAlaProGlyLysSerI leGluAlaMetValAspValSerAlaProLysValGluAlaAspValSer LeuProSerMetGlnGlyAspLeuLysAlaThrAspLeuSerIleGlnPr oProSerThrAspLeuLysValGlnAlaGlyGlnValAspValLysLeuL euGluGlyHisValProGluGlyAlaGlyLeuLysGlyHisLeuProLys ValGlnMetProSer	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	3403/18335	3266/17388	1089/5795		chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104952301	A A	AGGCTGAA others(983): Show AGGCTGAATGCTGAGGTCAGTGGTCTTCAGGTCCCCCTGCATGGAGGGGA GACTCACGTCGGCCTCCACTTTGGGTGCAGACACATCCACCAAGGCCTTG ATGGACTTGCCTGGGGCCGATACCCCGAACGATGGCATCTTGAACTTGGG CATTTTGAACCTGCTGTCTTTGGCAGTCACATCCTTGTCGGCCAGGGACA GGTCCCCCTCCAGCCGCGCACTGTCCAGCTTGGCTCCCGGGGCCTCGATG TCCACCTCCACGCTGGGCAGAGACACCTCCACATCAGGGGCTGTGACTTC CGCCTTGGGGCTTTTCAGGTCCAGCTTGGGGCCCTTGACGTCCACCTGGG GGCCCTTGATGTCCACTTTGGGCATCTTGAAACTGGGCATCTGCACCTTG GGCAGGTGCCCTTTGAGGCCGGCTCCCTCGGGAACGTGGCCCTCCAGGAG TTTCACGTCCACCTGGCCAGCCTGGACCTTCAGGTCGGTGGAAGGGGGCT GAATGCTGAGGTCAGTGGCCTTCAGGTCCCCCTGCATGGAGGGGAGACTC ACGTCGGCCTCCACTTTGGGTGCAGACACATCCACCATGGCCTCGATGGA CTTGCCTGGGGCAGACACCCCAAACGACGGCATCTTGAACTTGGGCATTT TGAACCTGCTGTCTTTGGCAGTCACATCCTTGTCGGCCAAGGACAGGTCC CCCTCCAACTGTGCACTATCCAGCTTGGCTCTCCGAGCCTGGACGTCCAC CTCGACGCTGGGCAGAGACACCTCGACATCGGGGACTCTCACTTCCACCT TGGGGTCTTTTAGGTCCAGCTTGGGGCCCTTGATGTCCACCTGGGGGCCC TTGAGGTCCACTTTGGGCATCTTGAAACTGGGCATCTCCACCTTGGGCAA GTGCCCTTTAAGGCCAGCTCCCTCGGGCAGGTGGCCCTCCGGGAGCTTCA CATCCACCTGGTCAGCCTGGACCTTCAGGTCAGTAGAAGCG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01255.hp2 HG01255.hp2	a0085 a0085	a0085c0172 a0085c0172	a0085c0172t0002 a0085c0172t0002	a0085c0172t0002g0296 a0085c0172t0002g0296	1	356	0.0028	990	c.314 others(999): Show c.3149_3150insCGCTTCTACTGACCTGAAGGTCCAGGCTGACCAGGT GGATGTGAAGCTCCCGGAGGGCCACCTGCCCGAGGGAGCTGGCCTTAAAG GGCACTTGCCCAAGGTGGAGATGCCCAGTTTCAAGATGCCCAAAGTGGAC CTCAAGGGCCCCCAGGTGGACATCAAGGGCCCCAAGCTGGACCTAAAAGA CCCCAAGGTGGAAGTGAGAGTCCCCGATGTCGAGGTGTCTCTGCCCAGCG TCGAGGTGGACGTCCAGGCTCGGAGAGCCAAGCTGGATAGTGCACAGTTG GAGGGGGACCTGTCCTTGGCCGACAAGGATGTGACTGCCAAAGACAGCAG GTTCAAAATGCCCAAGTTCAAGATGCCGTCGTTTGGGGTGTCTGCCCCAG GCAAGTCCATCGAGGCCATGGTGGATGTGTCTGCACCCAAAGTGGAGGCC GACGTGAGTCTCCCCTCCATGCAGGGGGACCTGAAGGCCACTGACCTCAG CATTCAGCCCCCTTCCACCGACCTGAAGGTCCAGGCTGGCCAGGTGGACG TGAAACTCCTGGAGGGCCACGTTCCCGAGGGAGCCGGCCTCAAAGGGCAC CTGCCCAAGGTGCAGATGCCCAGTTTCAAGATGCCCAAAGTGGACATCAA GGGCCCCCAGGTGGACGTCAAGGGCCCCAAGCTGGACCTGAAAAGCCCCA AGGCGGAAGTCACAGCCCCTGATGTGGAGGTGTCTCTGCCCAGCGTGGAG GTGGACATCGAGGCCCCGGGAGCCAAGCTGGACAGTGCGCGGCTGGAGGG GGACCTGTCCCTGGCCGACAAGGATGTGACTGCCAAAGACAGCAGGTTCA AAATGCCCAAGTTCAAGATGCCATCGTTCGGGGTATCGGCCCCAGGCAAG TCCATCAAGGCCTTGGTGGATGTGTCTGCACCCAAAGTGGAGGCCGACGT GAGTCTCCCCTCCATGCAGGGGGACCTGAAGACCACTGACCTCAGCATTC AGCC	p.Pro others(1005): Show p.Pro1050_Ala1051insAlaSerThrAspLeuLysValGlnAlaAsp GlnValAspValLysLeuProGluGlyHisLeuProGluGlyAlaGlyLe uLysGlyHisLeuProLysValGluMetProSerPheLysMetProLysV alAspLeuLysGlyProGlnValAspIleLysGlyProLysLeuAspLeu LysAspProLysValGluValArgValProAspValGluValSerLeuPr oSerValGluValAspValGlnAlaArgArgAlaLysLeuAspSerAlaG lnLeuGluGlyAspLeuSerLeuAlaAspLysAspValThrAlaLysAsp SerArgPheLysMetProLysPheLysMetProSerPheGlyValSerAl aProGlyLysSerIleGluAlaMetValAspValSerAlaProLysValG luAlaAspValSerLeuProSerMetGlnGlyAspLeuLysAlaThrAsp LeuSerIleGlnProProSerThrAspLeuLysValGlnAlaGlyGlnVa lAspValLysLeuLeuGluGlyHisValProGluGlyAlaGlyLeuLysG lyHisLeuProLysValGlnMetProSerPheLysMetProLysValAsp IleLysGlyProGlnValAspValLysGlyProLysLeuAspLeuLysSe rProLysAlaGluValThrAlaProAspValGluValSerLeuProSerV alGluValAspIleGluAlaProGlyAlaLysLeuAspSerAlaArgLeu GluGlyAspLeuSerLeuAlaAspLysAspValThrAlaLysAspSerAr gPheLysMetProLysPheLysMetProSerPheGlyValSerAlaProG lyLysSerIleLysAlaLeuValAspValSerAlaProLysValGluAla AspValSerLeuProSerMetGlnGlyAspLeuLysThrThrAspLeuSe rIleGlnPro	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	3286/18335	3149/17388	1050/5795		chr14	TogoVar
AKAP12_chr6_151234967_151363559	151352981	T T	TGAG TGAG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(220): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00597.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp2 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02040.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18975.hp2 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18994.hp2 NA18995.hp2 NA19000.hp2 NA19005.hp2 NA19007.hp2 NA19010.hp2 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19057.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp2 NA19067.hp2 NA19070.hp2 NA19079.hp1 NA19079.hp2 NA19083.hp2 NA19084.hp2 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(32): Show a0001 a0003 a0004 a0005 a0006 a0007 a0009 a0011 a0012 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0026 a0027 a0028 a0029 a0030 a0031 a0032 a0033 a0034 a0035 a0036 a0039 a0041 a0042	a0001c0002 a0001c0003 a0001c0011 others(54): Show a0001c0002 a0001c0003 a0001c0011 a0001c0012 a0001c0052 a0001c0055 a0001c0067 a0001c0071 a0003c0004 a0003c0008 a0003c0031 a0004c0007 a0004c0013 a0004c0056 a0005c0006 a0005c0046 a0005c0063 a0006c0009 a0006c0045 a0006c0062 a0007c0010 a0007c0065 a0009c0019 a0009c0057 a0011c0021 a0011c0030 a0012c0018 a0014c0014 a0015c0022 a0015c0040 a0016c0016 a0017c0023 a0017c0042 a0018c0024 a0019c0025 a0020c0047 a0020c0048 a0021c0051 a0021c0066 a0022c0026 a0023c0028 a0024c0020 a0025c0069 a0026c0070 a0027c0064 a0028c0068 a0029c0054 a0030c0053 a0031c0050 a0032c0058 a0033c0059 a0034c0049 a0035c0060 a0036c0043 a0039c0041 a0041c0033 a0042c0034	a0001c0002t0001 a0001c0002t0014 a0001c0002t0015 others(80): Show a0001c0002t0001 a0001c0002t0014 a0001c0002t0015 a0001c0002t0020 a0001c0002t0021 a0001c0003t0001 a0001c0003t0015 a0001c0003t0021 a0001c0003t0037 a0001c0011t0001 a0001c0011t0033 a0001c0012t0001 a0001c0012t0020 a0001c0052t0001 a0001c0055t0001 a0001c0067t0001 a0001c0071t0001 a0003c0004t0003 a0003c0004t0007 a0003c0004t0042 a0003c0008t0003 a0003c0031t0003 a0003c0031t0007 a0004c0007t0004 a0004c0013t0004 a0004c0013t0030 a0004c0056t0004 a0005c0006t0001 a0005c0006t0028 a0005c0046t0014 a0005c0063t0001 a0006c0009t0006 a0006c0009t0018 a0006c0009t0024 a0006c0045t0011 a0006c0062t0006 a0007c0010t0008 a0007c0010t0017 a0007c0010t0029 a0007c0065t0008 a0009c0019t0001 a0009c0057t0001 a0011c0021t0022 a0011c0021t0049 a0011c0030t0016 a0012c0018t0004 a0014c0014t0016 a0014c0014t0046 a0014c0014t0047 a0015c0022t0035 a0015c0022t0036 a0015c0040t0041 a0016c0016t0009 a0016c0016t0044 a0017c0023t0001 a0017c0023t0023 a0017c0042t0001 a0018c0024t0006 a0019c0025t0022 a0019c0025t0026 a0020c0047t0011 a0020c0048t0011 a0021c0051t0004 a0021c0066t0004 a0022c0026t0011 a0023c0028t0027 a0023c0028t0039 a0024c0020t0009 a0025c0069t0003 a0026c0070t0001 a0027c0064t0003 a0028c0068t0001 a0029c0054t0001 a0030c0053t0019 a0031c0050t0031 a0032c0058t0043 a0033c0059t0001 a0034c0049t0001 a0035c0060t0001 a0036c0043t0009 a0039c0041t0040 a0041c0033t0003 a0042c0034t0004	a0001c0002t0001g0021 a0001c0002t0001g0027 a0001c0002t0001g0050 others(220): Show a0001c0002t0001g0021 a0001c0002t0001g0027 a0001c0002t0001g0050 a0001c0002t0001g0054 a0001c0002t0001g0056 a0001c0002t0001g0058 a0001c0002t0001g0060 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0069 a0001c0002t0001g0076 a0001c0002t0001g0086 a0001c0002t0001g0094 a0001c0002t0001g0100 a0001c0002t0001g0104 a0001c0002t0001g0115 a0001c0002t0001g0127 a0001c0002t0001g0130 a0001c0002t0001g0138 a0001c0002t0001g0147 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0160 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0179 a0001c0002t0001g0187 a0001c0002t0001g0194 a0001c0002t0001g0205 a0001c0002t0001g0215 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0230 a0001c0002t0001g0239 a0001c0002t0001g0248 a0001c0002t0001g0256 a0001c0002t0001g0259 a0001c0002t0001g0266 a0001c0002t0001g0279 a0001c0002t0001g0281 a0001c0002t0001g0283 a0001c0002t0001g0284 a0001c0002t0001g0285 a0001c0002t0001g0291 a0001c0002t0001g0297 a0001c0002t0001g0298 a0001c0002t0001g0299 a0001c0002t0001g0300 a0001c0002t0001g0301 a0001c0002t0014g0236 a0001c0002t0014g0249 a0001c0002t0014g0276 a0001c0002t0015g0105 a0001c0002t0015g0110 a0001c0002t0015g0200 a0001c0002t0020g0129 a0001c0002t0021g0092 a0001c0003t0001g0097 a0001c0003t0001g0102 a0001c0003t0001g0113 a0001c0003t0001g0118 a0001c0003t0001g0120 a0001c0003t0001g0124 a0001c0003t0001g0125 a0001c0003t0001g0141 a0001c0003t0001g0142 a0001c0003t0001g0143 a0001c0003t0001g0151 a0001c0003t0001g0216 a0001c0003t0001g0217 a0001c0003t0001g0218 a0001c0003t0001g0220 a0001c0003t0001g0221 a0001c0003t0001g0254 a0001c0003t0001g0255 a0001c0003t0001g0288 a0001c0003t0001g0315 a0001c0003t0015g0096 a0001c0003t0021g0201 a0001c0003t0037g0314 a0001c0011t0001g0040 a0001c0011t0001g0235 a0001c0011t0001g0260 a0001c0011t0001g0267 a0001c0011t0001g0272 a0001c0011t0033g0080 a0001c0012t0001g0139 a0001c0012t0001g0192 a0001c0012t0001g0208 a0001c0012t0020g0270 a0001c0052t0001g0093 a0001c0055t0001g0061 a0001c0067t0001g0088 a0001c0071t0001g0004 a0003c0004t0003g0006 a0003c0004t0003g0007 a0003c0004t0003g0008 a0003c0004t0003g0051 a0003c0004t0003g0068 a0003c0004t0003g0074 a0003c0004t0003g0103 a0003c0004t0003g0189 a0003c0004t0003g0202 a0003c0004t0003g0231 a0003c0004t0003g0278 a0003c0004t0003g0306 a0003c0004t0007g0159 a0003c0004t0007g0193 a0003c0004t0007g0204 a0003c0004t0007g0232 a0003c0004t0007g0241 a0003c0004t0042g0258 a0003c0008t0003g0022 a0003c0008t0003g0048 a0003c0008t0003g0072 a0003c0008t0003g0075 a0003c0008t0003g0131 a0003c0008t0003g0274 a0003c0008t0003g0302 a0003c0008t0003g0309 a0003c0031t0003g0219 a0003c0031t0007g0269 a0004c0007t0004g0091 a0004c0007t0004g0098 a0004c0007t0004g0099 a0004c0007t0004g0106 a0004c0007t0004g0109 a0004c0007t0004g0165 a0004c0007t0004g0188 a0004c0007t0004g0213 a0004c0007t0004g0228 a0004c0007t0004g0237 a0004c0013t0004g0014 a0004c0013t0004g0095 a0004c0013t0004g0253 a0004c0013t0030g0087 a0004c0056t0004g0197 a0005c0006t0001g0012 a0005c0006t0001g0035 a0005c0006t0001g0039 a0005c0006t0001g0041 a0005c0006t0001g0119 a0005c0006t0001g0184 a0005c0006t0001g0210 a0005c0006t0001g0245 a0005c0006t0001g0307 a0005c0006t0028g0117 a0005c0046t0014g0126 a0005c0063t0001g0013 a0006c0009t0006g0015 a0006c0009t0006g0031 a0006c0009t0006g0071 a0006c0009t0006g0082 a0006c0009t0018g0178 a0006c0009t0018g0180 a0006c0009t0024g0262 a0006c0045t0011g0034 a0006c0062t0006g0116 a0007c0010t0008g0003 a0007c0010t0008g0077 a0007c0010t0008g0183 a0007c0010t0008g0212 a0007c0010t0017g0033 a0007c0010t0017g0122 a0007c0010t0029g0005 a0007c0065t0008g0036 a0009c0019t0001g0066 a0009c0019t0001g0140 a0009c0019t0001g0308 a0009c0057t0001g0108 a0011c0021t0022g0024 a0011c0021t0049g0019 a0011c0030t0016g0017 a0011c0030t0016g0114 a0012c0018t0004g0128 a0012c0018t0004g0303 a0012c0018t0004g0304 a0014c0014t0016g0011 a0014c0014t0046g0168 a0014c0014t0047g0170 a0015c0022t0035g0289 a0015c0022t0036g0296 a0015c0040t0041g0029 a0016c0016t0009g0111 a0016c0016t0009g0246 a0016c0016t0044g0171 a0017c0023t0001g0190 a0017c0023t0023g0053 a0017c0042t0001g0144 a0018c0024t0006g0206 a0018c0024t0006g0247 a0019c0025t0022g0016 a0019c0025t0026g0312 a0020c0047t0011g0112 a0020c0048t0011g0121 a0021c0051t0004g0268 a0021c0066t0004g0199 a0022c0026t0011g0002 a0022c0026t0011g0052 a0023c0028t0027g0257 a0023c0028t0039g0070 a0024c0020t0009g0030 a0024c0020t0009g0181 a0025c0069t0003g0065 a0026c0070t0001g0062 a0027c0064t0003g0209 a0028c0068t0001g0316 a0029c0054t0001g0195 a0030c0053t0019g0196 a0031c0050t0031g0107 a0032c0058t0043g0177 a0033c0059t0001g0250 a0034c0049t0001g0277 a0035c0060t0001g0132 a0036c0043t0009g0085 a0039c0041t0040g0310 a0041c0033t0003g0081 a0042c0034t0004g0101	223	316	0.7057	3	c.459 others(12): Show c.4593_4595dupGGA	p.Glu others(7): Show p.Glu1531dup	AKAP12	ENSG00000131016.17	transcript	ENST00000402676.7	protein_coding	4/5	4868/8466	4596/5349	1532/1782	INFO_REALIGN_3_PRIME	chr6	TogoVar
AKAP9_chr7_91935862_92115673	92022864	A A	AAAC AAAC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00280.hp2 HG00639.hp1 HG00639.hp2 others(113): Show HG00280.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00735.hp1 HG00738.hp1 HG01070.hp1 HG01074.hp2 HG01109.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01243.hp1 HG01256.hp1 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01516.hp1 HG01884.hp1 HG01928.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG02071.hp2 HG02109.hp2 HG02145.hp1 HG02155.hp1 HG02257.hp1 HG02258.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03098.hp1 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03834.hp2 HG04115.hp2 HG04184.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp2 NA18943.hp2 NA18947.hp2 NA18953.hp1 NA18956.hp2 NA18960.hp1 NA18962.hp1 NA18964.hp1 NA18966.hp2 NA18979.hp2 NA18991.hp2 NA18992.hp1 NA19001.hp1 NA19009.hp2 NA19010.hp1 NA19012.hp1 NA19030.hp2 NA19060.hp1 NA19062.hp1 NA19064.hp1 NA19068.hp2 NA19070.hp2 NA19072.hp1 NA19082.hp2 NA19086.hp1 NA19240.hp1 NA20300.hp2 NA20905.hp1 NA21309.hp2	a0002 a0003 a0004 others(12): Show a0002 a0003 a0004 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0026 a0028	a0002c0002 a0002c0033 a0003c0003 others(13): Show a0002c0002 a0002c0033 a0003c0003 a0004c0004 a0006c0006 a0007c0007 a0008c0009 a0009c0012 a0010c0010 a0011c0029 a0012c0030 a0013c0031 a0014c0013 a0015c0032 a0026c0015 a0028c0014	a0002c0002t0002 a0002c0002t0003 a0002c0033t0002 others(14): Show a0002c0002t0002 a0002c0002t0003 a0002c0033t0002 a0003c0003t0002 a0004c0004t0001 a0006c0006t0001 a0007c0007t0002 a0008c0009t0002 a0009c0012t0002 a0010c0010t0001 a0011c0029t0002 a0012c0030t0002 a0013c0031t0002 a0014c0013t0002 a0015c0032t0002 a0026c0015t0001 a0028c0014t0002	a0002c0002t0002g0213 a0002c0002t0002g0214 a0002c0002t0002g0215 others(113): Show a0002c0002t0002g0213 a0002c0002t0002g0214 a0002c0002t0002g0215 a0002c0002t0002g0216 a0002c0002t0002g0219 a0002c0002t0002g0220 a0002c0002t0002g0221 a0002c0002t0002g0222 a0002c0002t0002g0223 a0002c0002t0002g0224 a0002c0002t0002g0225 a0002c0002t0002g0226 a0002c0002t0002g0227 a0002c0002t0002g0228 a0002c0002t0002g0230 a0002c0002t0002g0231 a0002c0002t0002g0232 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0002g0235 a0002c0002t0002g0236 a0002c0002t0002g0237 a0002c0002t0002g0238 a0002c0002t0002g0241 a0002c0002t0002g0242 a0002c0002t0002g0243 a0002c0002t0002g0244 a0002c0002t0002g0245 a0002c0002t0002g0246 a0002c0002t0002g0247 a0002c0002t0002g0248 a0002c0002t0002g0249 a0002c0002t0002g0250 a0002c0002t0002g0251 a0002c0002t0002g0252 a0002c0002t0002g0253 a0002c0002t0002g0254 a0002c0002t0002g0255 a0002c0002t0002g0256 a0002c0002t0002g0257 a0002c0002t0002g0259 a0002c0002t0002g0260 a0002c0002t0002g0262 a0002c0002t0002g0263 a0002c0002t0002g0264 a0002c0002t0002g0265 a0002c0002t0002g0267 a0002c0002t0002g0268 a0002c0002t0002g0269 a0002c0002t0002g0270 a0002c0002t0002g0271 a0002c0002t0002g0273 a0002c0002t0002g0274 a0002c0002t0002g0276 a0002c0002t0002g0277 a0002c0002t0002g0279 a0002c0002t0002g0280 a0002c0002t0002g0281 a0002c0002t0002g0282 a0002c0002t0002g0284 a0002c0002t0002g0285 a0002c0002t0002g0286 a0002c0002t0002g0297 a0002c0002t0002g0298 a0002c0002t0002g0299 a0002c0002t0002g0300 a0002c0002t0002g0305 a0002c0002t0002g0306 a0002c0002t0003g0258 a0002c0002t0003g0261 a0002c0002t0003g0266 a0002c0033t0002g0275 a0003c0003t0002g0212 a0003c0003t0002g0240 a0003c0003t0002g0288 a0003c0003t0002g0289 a0003c0003t0002g0290 a0003c0003t0002g0291 a0003c0003t0002g0292 a0003c0003t0002g0293 a0003c0003t0002g0294 a0003c0003t0002g0295 a0003c0003t0002g0296 a0003c0003t0002g0301 a0004c0004t0001g0192 a0004c0004t0001g0193 a0004c0004t0001g0194 a0004c0004t0001g0196 a0004c0004t0001g0197 a0004c0004t0001g0199 a0004c0004t0001g0201 a0004c0004t0001g0202 a0004c0004t0001g0205 a0004c0004t0001g0206 a0006c0006t0001g0198 a0006c0006t0001g0200 a0006c0006t0001g0203 a0006c0006t0001g0204 a0007c0007t0002g0287 a0007c0007t0002g0302 a0007c0007t0002g0303 a0007c0007t0002g0304 a0008c0009t0002g0207 a0008c0009t0002g0209 a0008c0009t0002g0210 a0009c0012t0002g0217 a0009c0012t0002g0218 a0010c0010t0001g0191 a0010c0010t0001g0195 a0011c0029t0002g0283 a0012c0030t0002g0229 a0013c0031t0002g0278 a0014c0013t0002g0211 a0015c0032t0002g0239 a0026c0015t0001g0001 a0028c0014t0002g0208	116	306	0.3791	3	c.400 others(12): Show c.4004_4006dupAAC	p.Lys others(18): Show p.Lys1335_Leu1336insGln	AKAP9	ENSG00000127914.19	transcript	ENST00000356239.8	protein_coding	14/50	4245/12476	4007/11724	1336/3907	INFO_REALIGN_3_PRIME	chr7	TogoVar
ALG13_chrX_111676170_111765649	111744725	T T	TACC TACC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00558.hp2 HG01099.hp1 HG02027.hp1 others(13): Show HG00558.hp2 HG01099.hp1 HG02027.hp1 HG02040.hp1 HG02257.hp1 HG02976.hp2 HG03139.hp1 HG03209.hp1 HG03579.hp1 HG03942.hp1 NA18961.hp1 NA18967.hp1 NA19043.hp1 NA19060.hp1 NA19063.hp1 NA19066.hp1	a0001 a0002 a0001 a0002	a0001c0007 a0002c0003 a0002c0005 others(1): Show a0001c0007 a0002c0003 a0002c0005 a0002c0009	a0001c0007t0001 a0002c0003t0001 a0002c0005t0001 others(1): Show a0001c0007t0001 a0002c0003t0001 a0002c0005t0001 a0002c0009t0001	a0001c0007t0001g0101 a0002c0003t0001g0050 a0002c0003t0001g0065 others(13): Show a0001c0007t0001g0101 a0002c0003t0001g0050 a0002c0003t0001g0065 a0002c0003t0001g0080 a0002c0003t0001g0083 a0002c0003t0001g0090 a0002c0003t0001g0091 a0002c0003t0001g0116 a0002c0003t0001g0146 a0002c0003t0001g0148 a0002c0003t0001g0176 a0002c0003t0001g0181 a0002c0005t0001g0023 a0002c0005t0001g0026 a0002c0005t0001g0077 a0002c0009t0001g0047	16	191	0.0838	3	c.279 others(12): Show c.2796_2798dupACC	p.Pro others(6): Show p.Pro933dup	ALG13	ENSG00000101901.13	transcript	ENST00000394780.8	protein_coding	24/27	2848/4113	2799/3414	933/1137	INFO_REALIGN_3_PRIME	chrX	TogoVar
ALG13_chrX_111676170_111765649	111744725	T T	TACCACC TACCACC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02258.hp1 HG06807.hp2 NA20300.hp1 HG02258.hp1 HG06807.hp2 NA20300.hp1	a0004 a0004	a0004c0008 a0004c0010 a0004c0008 a0004c0010	a0004c0008t0001 a0004c0010t0001 a0004c0008t0001 a0004c0010t0001	a0004c0008t0001g0017 a0004c0008t0001g0018 a0004c0010t0001g0046 a0004c0008t0001g0017 a0004c0008t0001g0018 a0004c0010t0001g0046	3	191	0.0157	6	c.279 others(15): Show c.2793_2798dupACCACC	p.Pro others(13): Show p.Pro932_Pro933dup	ALG13	ENSG00000101901.13	transcript	ENST00000394780.8	protein_coding	24/27	2848/4113	2799/3414	933/1137	INFO_REALIGN_3_PRIME	chrX	TogoVar
ALMS1_chr2_73380836_73614916	73385903	T T	TGGA TGGA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00099.hp1 HG00280.hp1 HG00323.hp2 others(57): Show HG00099.hp1 HG00280.hp1 HG00323.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00735.hp2 HG01069.hp1 HG01070.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01256.hp1 HG01952.hp1 HG01975.hp2 HG01981.hp1 HG02071.hp1 HG02293.hp2 HG02602.hp2 HG02683.hp1 HG03017.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG03927.hp2 HG04204.hp1 NA18944.hp2 NA18947.hp1 NA18948.hp2 NA18950.hp1 NA18952.hp2 NA18954.hp1 NA18956.hp1 NA18961.hp1 NA18961.hp2 NA18966.hp2 NA18969.hp1 NA18971.hp1 NA18977.hp1 NA18983.hp2 NA18985.hp1 NA18989.hp2 NA18998.hp1 NA19000.hp2 NA19003.hp2 NA19009.hp1 NA19058.hp2 NA19079.hp2 NA19089.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0015 a0016 others(7): Show a0001 a0015 a0016 a0050 a0051 a0052 a0053 a0054 a0055 a0056	a0001c0001 a0001c0066 a0015c0015 others(8): Show a0001c0001 a0001c0066 a0015c0015 a0016c0016 a0050c0067 a0051c0068 a0052c0071 a0053c0070 a0054c0069 a0055c0072 a0056c0073	a0001c0001t0001 a0001c0001t0004 a0001c0066t0001 others(10): Show a0001c0001t0001 a0001c0001t0004 a0001c0066t0001 a0015c0015t0001 a0016c0016t0001 a0016c0016t0005 a0050c0067t0001 a0051c0068t0001 a0052c0071t0001 a0053c0070t0001 a0054c0069t0001 a0055c0072t0001 a0056c0073t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0095 others(57): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0095 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0186 a0001c0001t0001g0192 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0248 a0001c0001t0004g0133 a0001c0066t0001g0135 a0015c0015t0001g0181 a0015c0015t0001g0190 a0015c0015t0001g0214 a0016c0016t0001g0220 a0016c0016t0001g0221 a0016c0016t0005g0222 a0050c0067t0001g0223 a0051c0068t0001g0128 a0052c0071t0001g0140 a0053c0070t0001g0139 a0054c0069t0001g0162 a0055c0072t0001g0177 a0056c0073t0001g0123	60	248	0.2419	3	c.72_ others(8): Show c.72_74dupGGA	p.Glu others(5): Show p.Glu25dup	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	1/23	108/12844	75/12507	25/4168	INFO_REALIGN_3_PRIME	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73385903	T T	TGGAGGA TGGAGGA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00738.hp2 HG01257.hp2 HG01433.hp1 others(10): Show HG00738.hp2 HG01257.hp2 HG01433.hp1 HG01993.hp2 HG02056.hp2 HG02258.hp2 HG02559.hp1 HG02735.hp1 HG02809.hp1 HG04199.hp1 NA18941.hp1 NA18990.hp1 NA18994.hp1	a0007 a0057 a0058 a0007 a0057 a0058	a0007c0006 a0057c0075 a0058c0074 a0007c0006 a0057c0075 a0058c0074	a0007c0006t0001 a0057c0075t0001 a0058c0074t0001 a0007c0006t0001 a0057c0075t0001 a0058c0074t0001	a0007c0006t0001g0122 a0007c0006t0001g0127 a0007c0006t0001g0131 others(10): Show a0007c0006t0001g0122 a0007c0006t0001g0127 a0007c0006t0001g0131 a0007c0006t0001g0142 a0007c0006t0001g0148 a0007c0006t0001g0152 a0007c0006t0001g0158 a0007c0006t0001g0163 a0007c0006t0001g0166 a0007c0006t0001g0173 a0007c0006t0001g0211 a0057c0075t0001g0215 a0058c0074t0001g0147	13	248	0.0524	6	c.69_ others(11): Show c.69_74dupGGAGGA	p.Glu others(11): Show p.Glu24_Glu25dup	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	1/23	108/12844	75/12507	25/4168	INFO_REALIGN_3_PRIME	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73385903	T T	TGGAGGAG others(5): Show TGGAGGAGGAGGA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19074.hp1 NA19074.hp1	a0059 a0059	a0059c0076 a0059c0076	a0059c0076t0001 a0059c0076t0001	a0059c0076t0001g0003 a0059c0076t0001g0003	1	248	0.0040	12	c.63_ others(17): Show c.63_74dupGGAGGAGGAGGA	p.Glu others(11): Show p.Glu22_Glu25dup	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	1/23	108/12844	75/12507	25/4168	INFO_REALIGN_3_PRIME	chr2	TogoVar
AMN_chr14_102917663_102935842	102930656	C C	CGCCGGG CGCCGGG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01070.hp1 HG01071.hp2 HG02886.hp2 others(1): Show HG01070.hp1 HG01071.hp2 HG02886.hp2 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0003 a0002c0002t0002 a0002c0002t0003	a0002c0002t0002g0016 a0002c0002t0003g0002 a0002c0002t0003g0081 a0002c0002t0002g0016 a0002c0002t0003g0002 a0002c0002t0003g0081	4	452	0.0089	6	c.134 others(15): Show c.1343_1348dupGGGCCG	p.Gly others(13): Show p.Gly448_Ala449dup	AMN	ENSG00000166126.11	transcript	ENST00000299155.10	protein_coding	12/12	1375/1550	1349/1362	450/453	INFO_REALIGN_3_PRIME	chr14	TogoVar
AMY2A_chr1_103612427_103630780	103623924	T T	TTAATCCA others(23): Show TTAATCCAGACACTACTTGTGGCAATGACTG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01069.hp1 HG01069.hp1	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0001 a0010c0014t0001	a0010c0014t0001g0003 a0010c0014t0001g0003	1	312	0.0032	30	c.116 others(39): Show c.1161_1190dupTAATCCAGACACTACTTGTGGCAATGACTG	p.Asp others(43): Show p.Asp396_Trp397insCysAsnProAspThrThrCysGlyAsnAsp	AMY2A	ENSG00000243480.8	transcript	ENST00000414303.7	protein_coding	8/10	1205/1584	1191/1536	397/511	INFO_REALIGN_3_PRIME	chr1	TogoVar
ANKRD33_chr12_51883103_51896727	51890755	T T	TGGCCCA TGGCCCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00741.hp1 HG01069.hp2 HG01071.hp2 others(1): Show HG00741.hp1 HG01069.hp2 HG01071.hp2 HG01978.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0003 a0006c0009t0003	a0006c0009t0003g0006 a0006c0009t0003g0006	4	450	0.0089	6	c.830 others(13): Show c.830_835dupCCCAGG	p.Ala others(13): Show p.Ala277_Gln278dup	ANKRD33	ENSG00000167612.13	transcript	ENST00000301190.11	protein_coding	5/5	920/1865	836/1359	279/452	INFO_REALIGN_3_PRIME	chr12	TogoVar
ANKRD40_chr17_50688198_50712914	50699859	G G	GTCA GTCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00544.hp2 HG01346.hp1 HG01928.hp1 others(19): Show HG00544.hp2 HG01346.hp1 HG01928.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp2 HG02622.hp1 HG02818.hp2 HG02886.hp2 HG03516.hp1 HG03579.hp2 NA18965.hp2 NA18968.hp2 NA18970.hp1 NA19003.hp2 NA19043.hp2 NA19058.hp1 NA19060.hp2 NA19070.hp1 NA19079.hp2 NA19081.hp1 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0013 a0002c0002t0017 others(3): Show a0002c0002t0008 a0002c0002t0013 a0002c0002t0017 a0002c0002t0018 a0002c0002t0024 a0002c0002t0039	a0002c0002t0008g0010 a0002c0002t0008g0165 a0002c0002t0008g0172 others(16): Show a0002c0002t0008g0010 a0002c0002t0008g0165 a0002c0002t0008g0172 a0002c0002t0008g0173 a0002c0002t0008g0174 a0002c0002t0008g0175 a0002c0002t0008g0190 a0002c0002t0013g0081 a0002c0002t0013g0091 a0002c0002t0013g0100 a0002c0002t0013g0109 a0002c0002t0013g0142 a0002c0002t0017g0037 a0002c0002t0017g0046 a0002c0002t0018g0054 a0002c0002t0018g0055 a0002c0002t0024g0138 a0002c0002t0024g0153 a0002c0002t0039g0086	22	390	0.0564	3	c.315 others(10): Show c.315_317dupTGA	p.Asp others(6): Show p.Asp106dup	ANKRD40	ENSG00000154945.7	transcript	ENST00000285243.7	protein_coding	3/5	577/4166	317/1107	106/368		chr17	TogoVar
ANTXRL_chr10_46281997_46335129	46309137	T T	TTTGTGCC others(11): Show TTTGTGCCACTCCTGCTGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01167.hp1 HG01192.hp1 HG01884.hp1 others(11): Show HG01167.hp1 HG01192.hp1 HG01884.hp1 HG01891.hp2 HG02486.hp2 HG02572.hp1 HG02809.hp1 HG02809.hp2 HG02896.hp2 HG03195.hp1 HG03195.hp2 HG03471.hp2 HG03540.hp1 HG06807.hp1	a0004 a0014 a0019 others(1): Show a0004 a0014 a0019 a0025	a0004c0007 a0014c0024 a0019c0031 others(1): Show a0004c0007 a0014c0024 a0019c0031 a0025c0041	a0004c0007t0003 a0014c0024t0005 a0019c0031t0003 others(1): Show a0004c0007t0003 a0014c0024t0005 a0019c0031t0003 a0025c0041t0003	a0004c0007t0003g0011 a0004c0007t0003g0034 a0004c0007t0003g0170 others(8): Show a0004c0007t0003g0011 a0004c0007t0003g0034 a0004c0007t0003g0170 a0004c0007t0003g0191 a0004c0007t0003g0195 a0004c0007t0003g0196 a0004c0007t0003g0255 a0004c0007t0003g0288 a0014c0024t0005g0044 a0019c0031t0003g0296 a0025c0041t0003g0096	14	369	0.0379	18	c.108 others(27): Show c.1080_1097dupCCTGCTGCTTGTGCCACT	p.Leu others(31): Show p.Leu366_Leu367insLeuLeuLeuValProLeu	ANTXRL	ENSG00000274209.6	transcript	ENST00000620264.5	protein_coding	13/17	1364/2207	1098/1896	366/631	INFO_REALIGN_3_PRIME	chr10	TogoVar
APBB1IP_chr10_26433341_26572803	26567308	G G	GCCCGCGC others(5): Show GCCCGCGCCCGCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02809.hp1 HG02809.hp1	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0002 a0010c0010t0002	a0010c0010t0002g0348 a0010c0010t0002g0348	1	358	0.0028	12	c.182 others(21): Show c.1826_1837dupCGCCCGCCCCCG	p.Ala others(13): Show p.Ala609_Pro612dup	APBB1IP	ENSG00000077420.16	transcript	ENST00000376236.9	protein_coding	15/15	2155/2633	1838/2001	613/666	INFO_REALIGN_3_PRIME	chr10	TogoVar
APOBR_chr16_28489643_28503964	28496063	C C	CGGG CGGG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01106.hp2 HG01891.hp1 HG02257.hp1 others(17): Show HG01106.hp2 HG01891.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02622.hp1 HG02630.hp2 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp2 HG03453.hp2 NA18522.hp2	a0005 a0010 a0013 others(1): Show a0005 a0010 a0013 a0023	a0005c0009 a0005c0057 a0005c0058 others(4): Show a0005c0009 a0005c0057 a0005c0058 a0010c0017 a0010c0055 a0013c0018 a0023c0056	a0005c0009t0001 a0005c0057t0001 a0005c0058t0001 others(4): Show a0005c0009t0001 a0005c0057t0001 a0005c0058t0001 a0010c0017t0001 a0010c0055t0001 a0013c0018t0001 a0023c0056t0001	a0005c0009t0001g0001 a0005c0057t0001g0001 a0005c0058t0001g0001 others(4): Show a0005c0009t0001g0001 a0005c0057t0001g0001 a0005c0058t0001g0001 a0010c0017t0001g0001 a0010c0055t0001g0001 a0013c0018t0001g0001 a0023c0056t0001g0001	20	406	0.0493	3	c.102 others(12): Show c.1022_1023insGGG	p.Ser others(16): Show p.Ser341_Gly342insGly	APOBR	ENSG00000184730.12	transcript	ENST00000564831.6	protein_coding	2/4	1062/3792	1023/3294	341/1097		chr16	TogoVar
ARHGAP45_chr19_1062167_1091628	1085846	A A	AGGACGG AGGACGG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03098.hp1 HG03209.hp1 HG03540.hp1 others(1): Show HG03098.hp1 HG03209.hp1 HG03540.hp1 NA19043.hp1	a0011 a0016 a0011 a0016	a0011c0020 a0016c0037 a0011c0020 a0016c0037	a0011c0020t0007 a0016c0037t0022 a0011c0020t0007 a0016c0037t0022	a0011c0020t0007g0184 a0011c0020t0007g0185 a0011c0020t0007g0186 others(1): Show a0011c0020t0007g0184 a0011c0020t0007g0185 a0011c0020t0007g0186 a0016c0037t0022g0200	4	418	0.0096	6	c.326 others(15): Show c.3263_3268dupGGGACG	p.Gly others(15): Show p.Gly1088_Asp1089dup	ARHGAP45	ENSG00000180448.11	transcript	ENST00000313093.7	protein_coding	23/23	3508/4272	3269/3411	1090/1136	INFO_REALIGN_3_PRIME	chr19	TogoVar
ARID1B_chr6_156772378_157215779	156777692	G G	GGCA GGCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01109.hp1 HG01261.hp2 NA20905.hp2 HG01109.hp1 HG01261.hp2 NA20905.hp2	a0003 a0003	a0003c0010 a0003c0011 a0003c0012 a0003c0010 a0003c0011 a0003c0012	a0003c0010t0001 a0003c0011t0004 a0003c0012t0013 a0003c0010t0001 a0003c0011t0004 a0003c0012t0013	a0003c0010t0001g0099 a0003c0011t0004g0103 a0003c0012t0013g0022 a0003c0010t0001g0099 a0003c0011t0004g0103 a0003c0012t0013g0022	3	150	0.0200	3	c.18_ others(8): Show c.18_20dupAGC	p.Ala others(4): Show p.Ala7dup	ARID1B	ENSG00000049618.25	transcript	ENST00000636930.2	protein_coding	1/20	324/10310	21/7119	7/2372	INFO_REALIGN_3_PRIME	chr6	TogoVar
ARID1B_chr6_156772378_157215779	156778268	C C	CCAG CCAG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02922.hp2 HG03041.hp2 HG02922.hp2 HG03041.hp2	a0007 a0007	a0007c0031 a0007c0032 a0007c0031 a0007c0032	a0007c0031t0001 a0007c0032t0015 a0007c0031t0001 a0007c0032t0015	a0007c0031t0001g0005 a0007c0032t0015g0004 a0007c0031t0001g0005 a0007c0032t0015g0004	2	150	0.0133	3	c.609 others(10): Show c.609_611dupGCA	p.Gln others(6): Show p.Gln204dup	ARID1B	ENSG00000049618.25	transcript	ENST00000636930.2	protein_coding	1/20	915/10310	612/7119	204/2372	INFO_REALIGN_3_PRIME	chr6	TogoVar
ARID1B_chr6_156772378_157215779	156778268	C C	CCAGCAG CCAGCAG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01109.hp2 HG02559.hp2 HG02622.hp2 others(8): Show HG01109.hp2 HG02559.hp2 HG02622.hp2 HG02717.hp2 HG02809.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG03041.hp1 HG03486.hp1 HG06807.hp1	a0005 a0009 a0021 others(6): Show a0005 a0009 a0021 a0022 a0023 a0024 a0025 a0026 a0027	a0005c0004 a0009c0041 a0021c0033 others(6): Show a0005c0004 a0009c0041 a0021c0033 a0022c0034 a0023c0036 a0024c0035 a0025c0039 a0026c0038 a0027c0037	a0005c0004t0008 a0009c0041t0005 a0021c0033t0002 others(6): Show a0005c0004t0008 a0009c0041t0005 a0021c0033t0002 a0022c0034t0002 a0023c0036t0017 a0024c0035t0022 a0025c0039t0021 a0026c0038t0002 a0027c0037t0019	a0005c0004t0008g0001 a0005c0004t0008g0002 a0005c0004t0008g0007 others(8): Show a0005c0004t0008g0001 a0005c0004t0008g0002 a0005c0004t0008g0007 a0009c0041t0005g0008 a0021c0033t0002g0051 a0022c0034t0002g0048 a0023c0036t0017g0006 a0024c0035t0022g0049 a0025c0039t0021g0047 a0026c0038t0002g0045 a0027c0037t0019g0046	11	150	0.0733	6	c.606 others(13): Show c.606_611dupGCAGCA	p.Gln others(13): Show p.Gln203_Gln204dup	ARID1B	ENSG00000049618.25	transcript	ENST00000636930.2	protein_coding	1/20	915/10310	612/7119	204/2372	INFO_REALIGN_3_PRIME	chr6	TogoVar

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