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
IGFN1_chr1_201185824_201233952	201210972	C C	CGGTCAAT others(209): Show CGGTCAATGGATGAGGCAGGTTATAGGAAGGATTTGGGGGTTCCTAAGGG AATGGGTTCAGGCAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTG GAGAAATGGGGTCAGTGAATGAAGCAGGTTATAGGAAGGATTTGGGGGCT CCTAAGGGAATGGGTTCAGGGAGCAAGGCAGGTTTTAGGGATGGTTTAGG GAGTTCTGGGGAAATGG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00423.hp1 HG00438.hp2 HG00544.hp1 others(107): Show HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00673.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01496.hp1 HG01516.hp1 HG01517.hp1 HG01928.hp2 HG01934.hp2 HG01978.hp1 HG02027.hp2 HG02040.hp2 HG02083.hp1 HG02129.hp1 HG02145.hp2 HG02155.hp2 HG02165.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG02523.hp2 HG02622.hp2 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02922.hp2 HG03098.hp1 HG03209.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03710.hp2 HG03834.hp2 HG03927.hp1 HG04184.hp1 HG04204.hp1 HG06807.hp1 NA18522.hp2 NA18939.hp1 NA18939.hp2 NA18946.hp1 NA18949.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18975.hp2 NA18991.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA19002.hp1 NA19004.hp2 NA19011.hp2 NA19043.hp2 NA19057.hp1 NA19058.hp2 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19077.hp1 NA19079.hp2 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp2 NA19090.hp1 NA19091.hp2 NA20300.hp2 NA21309.hp2	a0001 a0005 a0017 others(25): Show a0001 a0005 a0017 a0022 a0023 a0028 a0031 a0032 a0033 a0057 a0058 a0059 a0063 a0064 a0065 a0066 a0067 a0068 a0069 a0070 a0071 a0077 a0079 a0101 a0102 a0103 a0104 a0105	a0001c0001 a0001c0013 a0001c0017 others(38): Show a0001c0001 a0001c0013 a0001c0017 a0001c0022 a0001c0065 a0001c0090 a0005c0004 a0005c0030 a0005c0054 a0017c0055 a0017c0141 a0017c0142 a0017c0143 a0022c0089 a0022c0096 a0022c0097 a0023c0041 a0023c0086 a0028c0051 a0031c0044 a0032c0042 a0033c0043 a0057c0102 a0058c0066 a0059c0091 a0063c0100 a0064c0099 a0065c0094 a0066c0095 a0067c0098 a0068c0068 a0069c0076 a0070c0093 a0071c0101 a0077c0088 a0079c0108 a0101c0138 a0102c0140 a0103c0144 a0104c0139 a0105c0137	a0001c0001t0001 a0001c0013t0001 a0001c0013t0011 others(40): Show a0001c0001t0001 a0001c0013t0001 a0001c0013t0011 a0001c0017t0001 a0001c0022t0003 a0001c0065t0001 a0001c0090t0001 a0005c0004t0001 a0005c0004t0003 a0005c0030t0005 a0005c0054t0001 a0017c0055t0002 a0017c0141t0004 a0017c0142t0004 a0017c0143t0002 a0022c0089t0004 a0022c0096t0002 a0022c0097t0002 a0023c0041t0001 a0023c0086t0001 a0028c0051t0001 a0031c0044t0001 a0032c0042t0001 a0033c0043t0001 a0057c0102t0001 a0058c0066t0009 a0059c0091t0001 a0063c0100t0001 a0064c0099t0001 a0065c0094t0001 a0066c0095t0001 a0067c0098t0001 a0068c0068t0001 a0069c0076t0005 a0070c0093t0001 a0071c0101t0001 a0077c0088t0001 a0079c0108t0001 a0101c0138t0009 a0102c0140t0001 a0103c0144t0002 a0104c0139t0001 a0105c0137t0004	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0009 others(85): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0022 a0001c0001t0001g0033 a0001c0001t0001g0039 a0001c0001t0001g0045 a0001c0001t0001g0062 a0001c0001t0001g0067 a0001c0001t0001g0097 a0001c0001t0001g0109 a0001c0001t0001g0136 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0180 a0001c0001t0001g0200 a0001c0001t0001g0206 a0001c0001t0001g0255 a0001c0001t0001g0322 a0001c0013t0001g0015 a0001c0013t0001g0220 a0001c0013t0001g0224 a0001c0013t0001g0236 a0001c0013t0001g0245 a0001c0013t0011g0209 a0001c0017t0001g0001 a0001c0017t0001g0046 a0001c0017t0001g0166 a0001c0022t0003g0037 a0001c0022t0003g0146 a0001c0022t0003g0149 a0001c0065t0001g0242 a0001c0090t0001g0191 a0005c0004t0001g0007 a0005c0004t0001g0019 a0005c0004t0001g0055 a0005c0004t0001g0060 a0005c0004t0001g0214 a0005c0004t0001g0215 a0005c0004t0001g0283 a0005c0004t0001g0286 a0005c0004t0001g0290 a0005c0004t0001g0297 a0005c0004t0001g0303 a0005c0004t0001g0306 a0005c0004t0003g0275 a0005c0030t0005g0081 a0005c0030t0005g0082 a0005c0030t0005g0093 a0005c0054t0001g0007 a0017c0055t0002g0282 a0017c0055t0002g0301 a0017c0141t0004g0056 a0017c0142t0004g0294 a0017c0143t0002g0310 a0022c0089t0004g0183 a0022c0096t0002g0145 a0022c0097t0002g0068 a0023c0041t0001g0001 a0023c0086t0001g0001 a0028c0051t0001g0009 a0031c0044t0001g0044 a0032c0042t0001g0001 a0032c0042t0001g0129 a0033c0043t0001g0165 a0033c0043t0001g0197 a0057c0102t0001g0001 a0058c0066t0009g0250 a0059c0091t0001g0190 a0063c0100t0001g0142 a0064c0099t0001g0130 a0065c0094t0001g0137 a0066c0095t0001g0122 a0067c0098t0001g0131 a0068c0068t0001g0015 a0069c0076t0005g0080 a0070c0093t0001g0192 a0071c0101t0001g0001 a0077c0088t0001g0144 a0079c0108t0001g0157 a0101c0138t0009g0315 a0102c0140t0001g0055 a0103c0144t0002g0295 a0104c0139t0001g0296 a0105c0137t0004g0056	110	428	0.2570	216	c.611 others(225): Show c.6118_6119insTTCCTAAGGGAATGGGTTCAGGCAGTAAGGCAAGTT TTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAAGCA GGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGGAGCAA GGCAGGTTTTAGGGATGGTTTAGGGAGTTCTGGGGAAATGGGGTCAATGG ATGAGGCAGGTTATAGGAAGGATTTGGGGG	p.Gly others(231): Show p.Gly2039_Ala2040insValProLysGlyMetGlySerGlySerLys AlaSerPheArgAspGlyLeuGlyGlySerGlyGluMetGlySerValAs nGluAlaGlyTyrArgLysAspLeuGlyAlaProLysGlyMetGlySerG lySerLysAlaGlyPheArgAspGlyLeuGlySerSerGlyGluMetGly SerMetAspGluAlaGlyTyrArgLysAspLeuGly	IGFN1	ENSG00000163395.17	transcript	ENST00000335211.9	protein_coding	12/24	6250/11811	6119/11127	2040/3708	INFO_REALIGN_3_PRIME	chr1	TogoVar
IGSF3_chr1_116569408_116672733	116579663	G G	GTCC GTCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00140.hp2 HG00639.hp1 HG00738.hp2 others(42): Show HG00140.hp2 HG00639.hp1 HG00738.hp2 HG01081.hp1 HG01169.hp1 HG01192.hp1 HG01256.hp2 HG01261.hp2 HG01358.hp1 HG01433.hp1 HG01515.hp2 HG01517.hp2 HG01975.hp2 HG01978.hp2 HG01993.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02523.hp1 HG02630.hp2 HG02683.hp2 HG02738.hp1 HG02818.hp1 HG03017.hp2 HG03041.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03491.hp1 HG03516.hp2 HG03654.hp1 HG03927.hp2 HG04115.hp2 HG04199.hp1 NA18960.hp2 NA18968.hp1 NA18969.hp1 NA18975.hp2 NA18990.hp2 NA19002.hp2 NA19057.hp2 NA20752.hp1 NA20905.hp1 NA20905.hp2	a0003 a0013 a0003 a0013	a0003c0003 a0003c0027 a0013c0018 a0003c0003 a0003c0027 a0013c0018	a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 others(6): Show a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0003t0009 a0003c0003t0010 a0003c0003t0016 a0003c0003t0022 a0003c0027t0001 a0013c0018t0001	a0003c0003t0001g0001 a0003c0003t0001g0002 a0003c0003t0001g0005 others(35): Show a0003c0003t0001g0001 a0003c0003t0001g0002 a0003c0003t0001g0005 a0003c0003t0001g0008 a0003c0003t0001g0046 a0003c0003t0001g0056 a0003c0003t0001g0061 a0003c0003t0001g0062 a0003c0003t0001g0063 a0003c0003t0001g0064 a0003c0003t0001g0065 a0003c0003t0001g0069 a0003c0003t0001g0075 a0003c0003t0001g0076 a0003c0003t0001g0077 a0003c0003t0001g0078 a0003c0003t0001g0081 a0003c0003t0001g0092 a0003c0003t0001g0096 a0003c0003t0001g0098 a0003c0003t0001g0115 a0003c0003t0001g0120 a0003c0003t0001g0126 a0003c0003t0001g0151 a0003c0003t0001g0172 a0003c0003t0001g0173 a0003c0003t0001g0232 a0003c0003t0001g0234 a0003c0003t0001g0242 a0003c0003t0002g0187 a0003c0003t0002g0201 a0003c0003t0003g0030 a0003c0003t0009g0007 a0003c0003t0010g0050 a0003c0003t0016g0235 a0003c0003t0022g0179 a0003c0027t0001g0097 a0013c0018t0001g0058	45	264	0.1705	3	c.306 others(12): Show c.3062_3063insGGA	p.Asp others(18): Show p.Asp1020_Asp1021insGlu	IGSF3	ENSG00000143061.18	transcript	ENST00000369486.8	protein_coding	10/11	3808/7235	3062/3585	1021/1194		chr1	TogoVar
IGSF3_chr1_116569408_116672733	116579666	G G	GTCCTCC GTCCTCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00280.hp2 HG01099.hp1 HG01255.hp2 others(14): Show HG00280.hp2 HG01099.hp1 HG01255.hp2 HG01346.hp1 HG01496.hp2 HG01934.hp1 HG01978.hp1 HG02109.hp1 HG02257.hp2 HG02622.hp2 HG03486.hp1 HG03491.hp2 HG03688.hp2 NA18944.hp1 NA18994.hp1 NA19001.hp1 homoSapiens_chm13v2.hp1	a0003 a0008 a0009 others(1): Show a0003 a0008 a0009 a0012	a0003c0003 a0003c0017 a0008c0030 others(2): Show a0003c0003 a0003c0017 a0008c0030 a0009c0028 a0012c0023	a0003c0003t0001 a0003c0003t0002 a0003c0003t0010 others(4): Show a0003c0003t0001 a0003c0003t0002 a0003c0003t0010 a0003c0017t0001 a0008c0030t0001 a0009c0028t0003 a0012c0023t0002	a0003c0003t0001g0002 a0003c0003t0001g0071 a0003c0003t0001g0074 others(14): Show a0003c0003t0001g0002 a0003c0003t0001g0071 a0003c0003t0001g0074 a0003c0003t0001g0089 a0003c0003t0001g0093 a0003c0003t0001g0111 a0003c0003t0001g0127 a0003c0003t0001g0133 a0003c0003t0001g0137 a0003c0003t0001g0138 a0003c0003t0001g0204 a0003c0003t0002g0200 a0003c0003t0010g0101 a0003c0017t0001g0165 a0008c0030t0001g0167 a0009c0028t0003g0033 a0012c0023t0002g0182	17	264	0.0644	6	c.305 others(15): Show c.3054_3059dupGGAGGA	p.Glu others(15): Show p.Glu1018_Glu1019dup	IGSF3	ENSG00000143061.18	transcript	ENST00000369486.8	protein_coding	10/11	3805/7235	3059/3585	1020/1194		chr1	TogoVar
IL1RL1_chr2_102306563_102357037	102351592	C C	CTGACCCC others(83): Show CTGACCCCTCAGATCACTCACAATAAGGAGTTTGCCTACGAGCAGGAGGT TGCCCTGCACTGTGCCCTCATCCAGAACGACGCCAAGGTGA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03017.hp2 HG03017.hp2	a0013 a0013	a0013c0013 a0013c0013	a0013c0013t0001 a0013c0013t0001	a0013c0013t0001g0067 a0013c0013t0001g0067	1	348	0.0029	90	c.134 others(99): Show c.1344_1433dupGACCCCTCAGATCACTCACAATAAGGAGTTTGCCTA CGAGCAGGAGGTTGCCCTGCACTGTGCCCTCATCCAGAACGACGCCAAGG TGAT	p.Val others(103): Show p.Val477_Ile478insMetThrProGlnIleThrHisAsnLysGluPh eAlaTyrGluGlnGluValAlaLeuHisCysAlaLeuIleGlnAsnAspA laLysVal	IL1RL1	ENSG00000115602.17	transcript	ENST00000233954.6	protein_coding	11/11	1644/1997	1434/1671	478/556	INFO_REALIGN_3_PRIME	chr2	TogoVar
IL31RA_chr5_55846357_55927850	55890056	A A	AGCTCTGC others(5): Show AGCTCTGCGATGT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19077.hp2 NA19077.hp2	a0008 a0008	a0008c0019 a0008c0019	a0008c0019t0001 a0008c0019t0001	a0008c0019t0001g0054 a0008c0019t0001g0054	1	322	0.0031	12	c.696 others(19): Show c.696_707dupTCTGCGATGTGC	p.Ala others(25): Show p.Ala236_Val237insLeuArgCysAla	IL31RA	ENSG00000164509.16	transcript	ENST00000652347.2	protein_coding	6/15	922/8239	708/2295	236/764	INFO_REALIGN_3_PRIME	chr5	TogoVar
IL9R_chrX_155992696_156015817	156010133	G G	GAGC GAGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00408.hp1 HG00423.hp1 HG00423.hp2 others(115): Show HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00741.hp1 HG01123.hp2 HG01346.hp1 HG01361.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01978.hp1 HG01993.hp2 HG02004.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp2 HG02280.hp1 HG02293.hp1 HG02451.hp1 HG02523.hp1 HG02559.hp2 HG02622.hp2 HG02683.hp2 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03195.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04184.hp1 HG06807.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18957.hp1 NA18963.hp1 NA18964.hp2 NA18965.hp1 NA18969.hp1 NA18969.hp2 NA18972.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp2 NA18983.hp2 NA18989.hp1 NA18990.hp1 NA18991.hp1 NA18992.hp1 NA18997.hp1 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19006.hp1 NA19011.hp2 NA19030.hp1 NA19055.hp2 NA19062.hp1 NA19064.hp1 NA19064.hp2 NA19067.hp1 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19076.hp1 NA19080.hp1 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19089.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0001 a0006 a0008 others(8): Show a0001 a0006 a0008 a0009 a0012 a0013 a0014 a0015 a0016 a0021 a0022	a0001c0001 a0001c0003 a0001c0006 others(11): Show a0001c0001 a0001c0003 a0001c0006 a0001c0022 a0006c0010 a0008c0008 a0009c0012 a0012c0025 a0013c0024 a0014c0029 a0015c0021 a0016c0023 a0021c0015 a0022c0013	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0003t0009 a0001c0006t0001 a0001c0022t0001 a0006c0010t0001 a0008c0008t0001 a0009c0012t0001 a0012c0025t0001 a0013c0024t0001 a0014c0029t0003 a0015c0021t0001 a0016c0023t0004 a0021c0015t0008 a0022c0013t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 others(66): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0002g0010 a0001c0003t0001g0004 a0001c0003t0001g0017 a0001c0003t0001g0027 a0001c0003t0001g0028 a0001c0003t0001g0119 a0001c0003t0001g0120 a0001c0003t0001g0122 a0001c0003t0001g0123 a0001c0003t0001g0124 a0001c0003t0001g0125 a0001c0003t0009g0126 a0001c0006t0001g0011 a0001c0006t0001g0085 a0001c0022t0001g0007 a0006c0010t0001g0002 a0006c0010t0001g0099 a0006c0010t0001g0110 a0008c0008t0001g0037 a0008c0008t0001g0043 a0008c0008t0001g0049 a0009c0012t0001g0003 a0012c0025t0001g0054 a0013c0024t0001g0042 a0014c0029t0003g0080 a0015c0021t0001g0003 a0016c0023t0004g0034 a0021c0015t0008g0121 a0022c0013t0001g0072	118	220	0.5364	3	c.131 others(12): Show c.1313_1315dupGCA	p.Ser others(6): Show p.Ser438dup	IL9R	ENSG00000124334.18	transcript	ENST00000244174.11	protein_coding	9/9	1380/2038	1316/1566	439/521	INFO_REALIGN_3_PRIME	chrX	TogoVar
IL9R_chrX_155992696_156015817	156010133	G G	GAGCAGC GAGCAGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01891.hp1 HG02615.hp1 HG02886.hp2 HG01891.hp1 HG02615.hp1 HG02886.hp2	a0007 a0007	a0007c0018 a0007c0030 a0007c0031 a0007c0018 a0007c0030 a0007c0031	a0007c0018t0001 a0007c0030t0001 a0007c0031t0001 a0007c0018t0001 a0007c0030t0001 a0007c0031t0001	a0007c0018t0001g0115 a0007c0030t0001g0033 a0007c0031t0001g0032 a0007c0018t0001g0115 a0007c0030t0001g0033 a0007c0031t0001g0032	3	220	0.0136	6	c.131 others(15): Show c.1310_1315dupGCAGCA	p.Ser others(13): Show p.Ser437_Ser438dup	IL9R	ENSG00000124334.18	transcript	ENST00000244174.11	protein_coding	9/9	1380/2038	1316/1566	439/521	INFO_REALIGN_3_PRIME	chrX	TogoVar
IL9R_chrX_155992696_156015817	156010136	C C	CAGG CAGG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19057.hp2 NA19057.hp2	a0017 a0017	a0017c0020 a0017c0020	a0017c0020t0001 a0017c0020t0001	a0017c0020t0001g0051 a0017c0020t0001g0051	1	220	0.0046	3	c.129 others(12): Show c.1295_1296insGAG	p.Ser others(16): Show p.Ser431_Ser432insArg	IL9R	ENSG00000124334.18	transcript	ENST00000244174.11	protein_coding	9/9	1360/2038	1296/1566	432/521	INFO_REALIGN_3_PRIME	chrX	TogoVar
INCENP_chr11_62119011_62158169	62146758	A A	AGCGGGAG others(8): Show AGCGGGAGCAGGAGCG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01496.hp2 HG02486.hp1 HG02630.hp2 others(10): Show HG01496.hp2 HG02486.hp1 HG02630.hp2 HG02922.hp1 HG03139.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03579.hp1 NA18906.hp1 NA19043.hp1 NA20300.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0011 a0005c0005t0001 a0005c0005t0011	a0005c0005t0001g0006 a0005c0005t0001g0034 a0005c0005t0001g0113 others(1): Show a0005c0005t0001g0006 a0005c0005t0001g0034 a0005c0005t0001g0113 a0005c0005t0011g0006	13	358	0.0363	15	c.207 others(24): Show c.2079_2093dupGGAGCAGGAGCGGCG	p.Arg others(28): Show p.Arg698_Glu699insGluGlnGluArgArg	INCENP	ENSG00000149503.13	transcript	ENST00000394818.8	protein_coding	15/19	2258/4114	2094/2757	698/918	INFO_REALIGN_3_PRIME	chr11	TogoVar
INCENP_chr11_62119011_62158169	62146777	G G	GGAGCAGG others(8): Show GGAGCAGGAGCAGCGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02273.hp2 NA18983.hp2 HG02273.hp2 NA18983.hp2	a0013 a0013	a0013c0019 a0013c0019	a0013c0019t0001 a0013c0019t0001	a0013c0019t0001g0004 a0013c0019t0001g0064 a0013c0019t0001g0004 a0013c0019t0001g0064	2	358	0.0056	15	c.208 others(24): Show c.2089_2090insAGCGCGAGCAGGAGC	p.Glu others(28): Show p.Glu696_Arg697insGlnArgGluGlnGlu	INCENP	ENSG00000149503.13	transcript	ENST00000394818.8	protein_coding	15/19	2254/4114	2090/2757	697/918	INFO_REALIGN_3_PRIME	chr11	TogoVar
INCENP_chr11_62119011_62158169	62146777	G G	GGAGCAGG others(8): Show GGAGCAGGAGCGGCGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02258.hp1 HG02451.hp1 HG02572.hp1 others(2): Show HG02258.hp1 HG02451.hp1 HG02572.hp1 HG02895.hp1 HG06807.hp2	a0008 a0029 a0008 a0029	a0008c0011 a0029c0036 a0008c0011 a0029c0036	a0008c0011t0001 a0029c0036t0001 a0008c0011t0001 a0029c0036t0001	a0008c0011t0001g0030 a0008c0011t0001g0031 a0029c0036t0001g0181 a0008c0011t0001g0030 a0008c0011t0001g0031 a0029c0036t0001g0181	5	358	0.0140	15	c.210 others(24): Show c.2109_2123dupCGAGCAGGAGCGGCG	p.Arg others(28): Show p.Arg708_Glu709insGluGlnGluArgArg	INCENP	ENSG00000149503.13	transcript	ENST00000394818.8	protein_coding	15/19	2288/4114	2124/2757	708/918	INFO_REALIGN_3_PRIME	chr11	TogoVar
INCENP_chr11_62119011_62158169	62146807	C C	CGAGCAGG others(8): Show CGAGCAGGAGCGGCGG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02896.hp2 HG02896.hp2	a0030 a0030	a0030c0046 a0030c0046	a0030c0046t0007 a0030c0046t0007	a0030c0046t0007g0182 a0030c0046t0007g0182	1	358	0.0028	15	c.212 others(24): Show c.2124_2138dupGGAGCAGGAGCGGCG	p.Arg others(28): Show p.Arg713_Glu714insGluGlnGluArgArg	INCENP	ENSG00000149503.13	transcript	ENST00000394818.8	protein_coding	15/19	2303/4114	2139/2757	713/918	INFO_REALIGN_3_PRIME	chr11	TogoVar
ING3_chr7_120945777_120982216	120967615	C C	CTTACGTC others(5): Show CTTACGTCAGATG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19063.hp1 NA19063.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0015 a0002c0003t0001g0015	1	332	0.0030	12	c.524 others(19): Show c.524_535dupTTACGTCAGATG	p.Asp others(25): Show p.Asp178_Ala179insValThrSerAsp	ING3	ENSG00000071243.16	transcript	ENST00000315870.10	protein_coding	7/12	656/3749	536/1257	179/418	INFO_REALIGN_3_PRIME	chr7	TogoVar
INSIG2_chr2_118083471_118115997	118106800	T T	TGGTGGAC others(38): Show TGGTGGACTTTTGATAGATCTAGAAGTGGTTTTGGCCTTGGAGTAG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18968.hp2 NA18968.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0197 a0003c0006t0001g0197	1	440	0.0023	45	c.435 others(52): Show c.435_479dupGTGGACTTTTGATAGATCTAGAAGTGGTTTTGGCCTTG GAGTAGG	p.Gly others(58): Show p.Gly160_Ile161insTrpThrPheAspArgSerArgSerGlyPheGl yLeuGlyValGly	INSIG2	ENSG00000125629.16	transcript	ENST00000245787.9	protein_coding	4/6	689/3562	480/678	160/225	INFO_REALIGN_3_PRIME	chr2	TogoVar
INTS10_chr8_19812416_19857067	19832076	T T	TAAGAATC others(380): Show TAAGAATCTTCCTCACTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	stop_gained others(1): Show stop_gained disruptive_inframe_insertion	HIGH	HG01515.hp2 HG01515.hp2	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0003 a0002c0013t0003	a0002c0013t0003g0029 a0002c0013t0003g0029	1	420	0.0024	387	c.136 others(396): Show c.1360_1361insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCC CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAATCTTCCTCACT G	p.Thr others(400): Show p.Thr453_Asp454insGlyArgAlaArgTrpLeuThrProValIlePr oAlaLeuTrpGluAlaGluAlaGlyGlySerArgGlyGlnGluIleGluT hrIleProAlaLysThrValLysProArgLeuTyrTerLysTyrLysLys LeuAlaGlyArgSerGlyGlyArgLeuTerSerGlnLeuLeuGlyArgLe uArgGlnGluAsnGlyValAsnProGlyGlyGlyAlaCysSerGluProA rgSerArgHisCysThrProAlaTrpAlaThrGluArgAspSerValSer LysLysLysLysLysLysLysLysLysLysLysLysLysLysLysLysLy sLysLysLysLysLysLysLysLysLysLysLysLysLysArgIlePheL euThr	INTS10	ENSG00000104613.12	transcript	ENST00000397977.8	protein_coding	11/17	1483/2517	1361/2133	454/710	INFO_REALIGN_3_PRIME	chr8	TogoVar
IRF2BPL_chr14_77019543_77033708	77027322	G G	GGCGGCGG others(5): Show GGCGGCGGCGGCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01257.hp1 HG01433.hp1 HG02004.hp2 HG01257.hp1 HG01433.hp1 HG02004.hp2	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0003 a0006c0011t0003	a0006c0011t0003g0000 a0006c0011t0003g0000	3	414	0.0073	12	c.459 others(19): Show c.459_470dupTGCCGCCGCCGC	p.Ala others(13): Show p.Ala154_Ala157dup	IRF2BPL	ENSG00000119669.5	transcript	ENST00000238647.5	protein_coding	1/1	1386/4166	470/2391	157/796		chr14	TogoVar
IRF2BPL_chr14_77019543_77033708	77027424	C C	CTGCTGCT others(14): Show CTGCTGCTGCTGCTGCTGCTGT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00423.hp1 HG00423.hp1	a0014 a0014	a0014c0033 a0014c0033	a0014c0033t0049 a0014c0033t0049	a0014c0033t0049g0000 a0014c0033t0049g0000	1	414	0.0024	21	c.368 others(28): Show c.368_369insACAGCAGCAGCAGCAGCAGCA	p.Gln others(13): Show p.Gln117_Gln123dup	IRF2BPL	ENSG00000119669.5	transcript	ENST00000238647.5	protein_coding	1/1	1284/4166	368/2391	123/796		chr14	TogoVar
IST1_chr16_71890531_71936199	71922608	A A	AATGCCC AATGCCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01891.hp1 HG02109.hp2 HG02258.hp2 others(9): Show HG01891.hp1 HG02109.hp2 HG02258.hp2 HG02896.hp2 HG02965.hp2 HG02970.hp2 HG03130.hp1 HG03540.hp2 HG06807.hp2 NA18906.hp2 NA19043.hp1 NA19240.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0006 a0003c0004t0027 a0003c0004t0006 a0003c0004t0027	a0003c0004t0006g0007 a0003c0004t0006g0064 a0003c0004t0006g0066 others(7): Show a0003c0004t0006g0007 a0003c0004t0006g0064 a0003c0004t0006g0066 a0003c0004t0006g0067 a0003c0004t0006g0068 a0003c0004t0006g0069 a0003c0004t0006g0070 a0003c0004t0006g0071 a0003c0004t0006g0076 a0003c0004t0027g0077	12	352	0.0341	6	c.705 others(13): Show c.705_710dupCATGCC	p.Pro others(19): Show p.Pro237_Met238insMetPro	IST1	ENSG00000182149.21	transcript	ENST00000378799.11	protein_coding	7/10	785/4561	711/1101	237/366	INFO_REALIGN_3_PRIME	chr16	TogoVar
IVL_chr1_152903546_152916886	152910325	G G	GGAGCAGC others(83): Show GGAGCAGCAGGAGGGGCAGCTGGAGCTCCCAGAGCAGCAGGAGGGACAGC TGGAGCTCCCAGAGCAGCAGGAGGGGCAGCTGGAGCTCCCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18990.hp2 NA18990.hp2	a0005 a0005	a0005c0036 a0005c0036	a0005c0036t0002 a0005c0036t0002	a0005c0036t0002g0004 a0005c0036t0002g0004	1	426	0.0024	90	c.572 others(97): Show c.572_573insACAGCTGGAGCTCCCAGAGCAGCAGGAGGGGCAGCTGG AGCTCCCAGAGCAGCAGGAGGGGCAGCTGGAGCTCCCAGAGCAGCAGGAG GG	p.Gly others(103): Show p.Gly191_Gln192insGlnLeuGluLeuProGluGlnGlnGluGlyGl nLeuGluLeuProGluGlnGlnGluGlyGlnLeuGluLeuProGluGlnG lnGluGly	IVL	ENSG00000163207.7	transcript	ENST00000368764.4	protein_coding	2/2	636/2152	573/1758	191/585	INFO_REALIGN_3_PRIME	chr1	TogoVar
JCAD_chr10_30007803_30064586	30027571	A A	ACTG ACTG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00408.hp2 HG01884.hp1 HG02976.hp2 others(4): Show HG00408.hp2 HG01884.hp1 HG02976.hp2 HG03130.hp2 HG03195.hp1 HG03516.hp1 HG03579.hp2	a0005 a0011 a0025 others(1): Show a0005 a0011 a0025 a0026	a0005c0011 a0011c0018 a0025c0032 others(1): Show a0005c0011 a0011c0018 a0025c0032 a0026c0029	a0005c0011t0019 a0011c0018t0021 a0025c0032t0061 others(1): Show a0005c0011t0019 a0011c0018t0021 a0025c0032t0061 a0026c0029t0001	a0005c0011t0019g0127 a0005c0011t0019g0196 a0005c0011t0019g0197 others(4): Show a0005c0011t0019g0127 a0005c0011t0019g0196 a0005c0011t0019g0197 a0011c0018t0021g0085 a0011c0018t0021g0086 a0025c0032t0061g0084 a0026c0029t0001g0225	7	398	0.0176	3	c.257 others(12): Show c.2574_2576dupCAG	p.Ser others(6): Show p.Ser859dup	JCAD	ENSG00000165757.9	transcript	ENST00000375377.2	protein_coding	3/4	2740/9324	2576/4080	859/1359		chr10	TogoVar
KAT6B_chr10_74821600_75037624	75028901	G G	GGAAGAGG others(2): Show GGAAGAGGAA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02559.hp2 HG02615.hp1 HG02622.hp1 others(5): Show HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02717.hp1 HG02809.hp2 HG03516.hp2 NA18522.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0002 a0004c0004t0001 a0004c0004t0002	a0004c0004t0001g0012 a0004c0004t0001g0014 a0004c0004t0001g0015 others(5): Show a0004c0004t0001g0012 a0004c0004t0001g0014 a0004c0004t0001g0015 a0004c0004t0001g0016 a0004c0004t0002g0013 a0004c0004t0002g0017 a0004c0004t0002g0018 a0004c0004t0002g0019	8	236	0.0339	9	c.409 others(18): Show c.4097_4105dupAAGAGGAAG	p.Glu others(15): Show p.Glu1366_Glu1368dup	KAT6B	ENSG00000156650.14	transcript	ENST00000287239.10	protein_coding	18/18	4620/8314	4106/6222	1369/2073	INFO_REALIGN_3_PRIME	chr10	TogoVar
KCNG2_chr18_79792938_79905100	79863691	G G	GGGC GGGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00099.hp1 HG00140.hp1 HG00323.hp1 others(88): Show HG00099.hp1 HG00140.hp1 HG00323.hp1 HG00438.hp1 HG00558.hp2 HG00639.hp2 HG00642.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01255.hp1 HG01256.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG02027.hp2 HG02040.hp2 HG02132.hp2 HG02155.hp2 HG02273.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02602.hp1 HG02738.hp1 HG03017.hp1 HG03098.hp2 HG03195.hp1 HG03239.hp2 HG03471.hp1 HG03491.hp2 HG03654.hp2 HG03704.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04204.hp1 HG04228.hp2 NA18522.hp2 NA18747.hp2 NA18940.hp2 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18949.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp2 NA18955.hp2 NA18959.hp2 NA18964.hp2 NA18967.hp2 NA18973.hp2 NA18979.hp2 NA18980.hp2 NA18982.hp1 NA18984.hp1 NA18986.hp2 NA18989.hp1 NA18990.hp1 NA18997.hp2 NA19002.hp1 NA19005.hp1 NA19007.hp1 NA19010.hp1 NA19012.hp1 NA19012.hp2 NA19056.hp2 NA19064.hp2 NA19065.hp2 NA19074.hp1 NA19080.hp1 NA19082.hp2 NA19085.hp2 NA19089.hp2 NA19091.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0001 a0002c0002t0002 a0002c0004t0001 a0002c0002t0001 a0002c0002t0002 a0002c0004t0001	a0002c0002t0001g0030 a0002c0002t0001g0050 a0002c0002t0001g0060 others(88): Show a0002c0002t0001g0030 a0002c0002t0001g0050 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0114 a0002c0002t0001g0124 a0002c0002t0001g0137 a0002c0002t0001g0145 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0188 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0203 a0002c0002t0001g0249 a0002c0002t0002g0031 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0035 a0002c0002t0002g0038 a0002c0002t0002g0040 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0067 a0002c0002t0002g0069 a0002c0002t0002g0079 a0002c0002t0002g0086 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0102 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0113 a0002c0002t0002g0123 a0002c0002t0002g0164 a0002c0002t0002g0205 a0002c0002t0002g0209 a0002c0002t0002g0214 a0002c0002t0002g0235 a0002c0002t0002g0239 a0002c0002t0002g0245 a0002c0002t0002g0246 a0002c0002t0002g0247 a0002c0002t0002g0259 a0002c0002t0002g0261 a0002c0002t0002g0265 a0002c0002t0002g0266 a0002c0002t0002g0271 a0002c0002t0002g0272 a0002c0002t0002g0285 a0002c0002t0002g0287 a0002c0002t0002g0289 a0002c0002t0002g0290 a0002c0002t0002g0306 a0002c0002t0002g0311 a0002c0004t0001g0003 a0002c0004t0001g0039 a0002c0004t0001g0058 a0002c0004t0001g0059 a0002c0004t0001g0064 a0002c0004t0001g0065 a0002c0004t0001g0070 a0002c0004t0001g0090 a0002c0004t0001g0138 a0002c0004t0001g0144 a0002c0004t0001g0146 a0002c0004t0001g0153 a0002c0004t0001g0158 a0002c0004t0001g0258 a0002c0004t0001g0288 a0002c0004t0001g0301	91	312	0.2917	3	c.36_ others(8): Show c.36_38dupCGG	p.Gly others(5): Show p.Gly13dup	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	3/4	230/1876	39/1401	13/466	INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNN2_chr5_114357070_114501496	114362471	C C	CCTG CCTG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01070.hp1 HG01256.hp2 HG02896.hp1 others(2): Show HG01070.hp1 HG01256.hp2 HG02896.hp1 HG02897.hp2 NA20129.hp1	a0004 a0004	a0004c0008 a0004c0012 a0004c0008 a0004c0012	a0004c0008t0001 a0004c0012t0001 a0004c0008t0001 a0004c0012t0001	a0004c0008t0001g0010 a0004c0008t0001g0011 a0004c0008t0001g0012 others(2): Show a0004c0008t0001g0010 a0004c0008t0001g0011 a0004c0008t0001g0012 a0004c0012t0001g0142 a0004c0012t0001g0143	5	250	0.0200	3	c.350 others(10): Show c.350_352dupGCT	p.Cys others(6): Show p.Cys117dup	KCNN2	ENSG00000080709.17	transcript	ENST00000673685.1	protein_coding	1/8	423/2760	353/2376	118/791	INFO_REALIGN_3_PRIME	chr5	TogoVar
KCNN2_chr5_114357070_114501496	114362934	T T	TGCC TGCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(122): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00642.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp2 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01261.hp2 HG01361.hp1 HG01433.hp1 HG01943.hp2 HG01978.hp1 HG01993.hp2 HG02040.hp2 HG02055.hp2 HG02080.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp1 HG02258.hp1 HG02273.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02818.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03209.hp1 HG03225.hp2 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18942.hp1 NA18946.hp1 NA18946.hp2 NA18959.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18973.hp2 NA18986.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19004.hp1 NA19009.hp1 NA19009.hp2 NA19030.hp1 NA19057.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19074.hp1 NA19077.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp2 NA19088.hp1 NA19090.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0002 a0004 a0005 others(4): Show a0002 a0004 a0005 a0006 a0008 a0009 a0011	a0002c0002 a0002c0005 a0002c0011 others(9): Show a0002c0002 a0002c0005 a0002c0011 a0002c0014 a0002c0017 a0004c0008 a0004c0012 a0005c0004 a0006c0007 a0008c0013 a0009c0023 a0011c0016	a0002c0002t0001 a0002c0005t0001 a0002c0011t0001 others(9): Show a0002c0002t0001 a0002c0005t0001 a0002c0011t0001 a0002c0014t0001 a0002c0017t0001 a0004c0008t0001 a0004c0012t0001 a0005c0004t0001 a0006c0007t0001 a0008c0013t0001 a0009c0023t0001 a0011c0016t0003	a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0004 others(122): Show a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0071 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0132 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0137 a0002c0002t0001g0138 a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0156 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0165 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0188 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0201 a0002c0002t0001g0202 a0002c0002t0001g0203 a0002c0002t0001g0204 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0207 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0224 a0002c0002t0001g0225 a0002c0002t0001g0226 a0002c0002t0001g0236 a0002c0002t0001g0238 a0002c0002t0001g0240 a0002c0002t0001g0242 a0002c0002t0001g0249 a0002c0005t0001g0013 a0002c0005t0001g0014 a0002c0005t0001g0015 a0002c0005t0001g0016 a0002c0011t0001g0239 a0002c0011t0001g0241 a0002c0014t0001g0017 a0002c0017t0001g0178 a0004c0008t0001g0010 a0004c0008t0001g0011 a0004c0008t0001g0012 a0004c0012t0001g0142 a0004c0012t0001g0143 a0005c0004t0001g0146 a0005c0004t0001g0147 a0005c0004t0001g0148 a0005c0004t0001g0149 a0005c0004t0001g0176 a0006c0007t0001g0104 a0006c0007t0001g0221 a0006c0007t0001g0222 a0006c0007t0001g0223 a0008c0013t0001g0237 a0009c0023t0001g0160 a0011c0016t0003g0177	125	250	0.5000	3	c.807 others(10): Show c.807_809dupCGC	p.Ala others(6): Show p.Ala270dup	KCNN2	ENSG00000080709.17	transcript	ENST00000673685.1	protein_coding	1/8	880/2760	810/2376	270/791	INFO_REALIGN_3_PRIME	chr5	TogoVar
KCTD8_chr4_44168903_44453809	44447936	G G	GCCA GCCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02257.hp2 HG02451.hp2 HG02572.hp1 others(5): Show HG02257.hp2 HG02451.hp2 HG02572.hp1 HG02895.hp1 HG03195.hp1 HG03453.hp2 HG03471.hp1 HG03579.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0002 a0002c0003t0001 a0002c0003t0002	a0002c0003t0001g0284 a0002c0003t0001g0285 a0002c0003t0001g0286 others(5): Show a0002c0003t0001g0284 a0002c0003t0001g0285 a0002c0003t0001g0286 a0002c0003t0001g0288 a0002c0003t0001g0289 a0002c0003t0001g0290 a0002c0003t0001g0291 a0002c0003t0002g0287	8	294	0.0272	3	c.585 others(10): Show c.585_587dupTGG	p.Gly others(6): Show p.Gly196dup	KCTD8	ENSG00000183783.7	transcript	ENST00000360029.4	protein_coding	1/2	873/2595	587/1422	196/473		chr4	TogoVar
KDM6A_chrX_44868188_45117779	44873590	T T	TGCC TGCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01891.hp1 HG03486.hp1 NA20300.hp1 HG01891.hp1 HG03486.hp1 NA20300.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0002 a0003c0005t0001g0003 a0003c0005t0001g0004 a0003c0005t0001g0002 a0003c0005t0001g0003 a0003c0005t0001g0004	3	199	0.0151	3	c.48_ others(8): Show c.48_50dupCGC	p.Ala others(5): Show p.Ala17dup	KDM6A	ENSG00000147050.18	transcript	ENST00000611820.5	protein_coding	1/30	415/6094	51/4362	17/1453	INFO_REALIGN_3_PRIME	chrX	TogoVar
KDM6B_chr17_7829217_7859796	7846859	T T	TACC TACC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01891.hp2 HG02055.hp2 HG02145.hp1 others(10): Show HG01891.hp2 HG02055.hp2 HG02145.hp1 HG02615.hp1 HG02647.hp2 HG02723.hp2 HG03130.hp1 HG03209.hp1 HG03453.hp2 HG03688.hp2 HG04204.hp2 HG06807.hp1 NA18985.hp1	a0012 a0015 a0029 others(2): Show a0012 a0015 a0029 a0030 a0041	a0012c0020 a0012c0069 a0012c0071 others(4): Show a0012c0020 a0012c0069 a0012c0071 a0015c0021 a0029c0090 a0030c0089 a0041c0070	a0012c0020t0003 a0012c0069t0001 a0012c0071t0003 others(4): Show a0012c0020t0003 a0012c0069t0001 a0012c0071t0003 a0015c0021t0001 a0029c0090t0001 a0030c0089t0001 a0041c0070t0003	a0012c0020t0003g0029 a0012c0020t0003g0189 a0012c0020t0003g0210 others(9): Show a0012c0020t0003g0029 a0012c0020t0003g0189 a0012c0020t0003g0210 a0012c0020t0003g0211 a0012c0069t0001g0042 a0012c0071t0003g0194 a0015c0021t0001g0021 a0015c0021t0001g0123 a0015c0021t0001g0132 a0029c0090t0001g0020 a0030c0089t0001g0020 a0041c0070t0003g0206	13	388	0.0335	3	c.789 others(10): Show c.789_791dupACC	p.Pro others(6): Show p.Pro264dup	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	10/24	1313/6728	792/4932	264/1643	INFO_REALIGN_3_PRIME	chr17	TogoVar
KDM6B_chr17_7829217_7859796	7846859	T T	TACCACC TACCACC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(253): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18942.hp1 NA18943.hp1 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18957.hp1 NA18962.hp2 NA18963.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18990.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp2 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19068.hp2 NA19074.hp2 NA19075.hp1 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19082.hp1 NA19088.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0005 others(19): Show a0001 a0004 a0005 a0006 a0007 a0009 a0013 a0014 a0018 a0020 a0023 a0024 a0031 a0032 a0042 a0043 a0044 a0045 a0046 a0047 a0048 a0049	a0001c0001 a0001c0002 a0001c0004 others(45): Show a0001c0001 a0001c0002 a0001c0004 a0001c0015 a0001c0016 a0001c0017 a0001c0028 a0001c0029 a0001c0030 a0001c0054 a0001c0065 a0004c0005 a0005c0014 a0005c0019 a0005c0049 a0005c0050 a0005c0051 a0005c0052 a0005c0061 a0005c0062 a0006c0006 a0007c0009 a0007c0087 a0009c0018 a0009c0045 a0009c0046 a0009c0047 a0009c0057 a0009c0058 a0009c0059 a0013c0013 a0014c0022 a0014c0048 a0014c0060 a0018c0023 a0020c0024 a0023c0027 a0024c0031 a0031c0088 a0032c0086 a0042c0056 a0043c0055 a0044c0068 a0045c0053 a0046c0064 a0047c0063 a0048c0066 a0049c0067	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(65): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0002t0001 a0001c0002t0002 a0001c0004t0003 a0001c0004t0020 a0001c0004t0023 a0001c0015t0005 a0001c0016t0001 a0001c0016t0011 a0001c0017t0001 a0001c0017t0009 a0001c0028t0001 a0001c0029t0004 a0001c0030t0002 a0001c0054t0024 a0001c0065t0002 a0004c0005t0001 a0004c0005t0010 a0004c0005t0019 a0005c0014t0001 a0005c0019t0003 a0005c0019t0004 a0005c0019t0026 a0005c0049t0001 a0005c0050t0001 a0005c0051t0009 a0005c0052t0006 a0005c0061t0002 a0005c0062t0003 a0006c0006t0002 a0007c0009t0001 a0007c0009t0007 a0007c0009t0021 a0007c0087t0001 a0009c0018t0002 a0009c0018t0004 a0009c0045t0001 a0009c0046t0002 a0009c0047t0015 a0009c0057t0025 a0009c0058t0004 a0009c0059t0003 a0013c0013t0006 a0014c0022t0001 a0014c0048t0002 a0014c0060t0001 a0018c0023t0003 a0020c0024t0003 a0023c0027t0002 a0024c0031t0005 a0031c0088t0001 a0032c0086t0001 a0042c0056t0002 a0043c0055t0002 a0044c0068t0002 a0045c0053t0001 a0046c0064t0002 a0047c0063t0002 a0048c0066t0003 a0049c0067t0001	a0001c0001t0001g0167 a0001c0001t0002g0007 a0001c0001t0002g0012 others(223): Show a0001c0001t0001g0167 a0001c0001t0002g0007 a0001c0001t0002g0012 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0030 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0136 a0001c0001t0002g0157 a0001c0001t0002g0159 a0001c0001t0002g0161 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0233 a0001c0001t0002g0237 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0244 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0003g0227 a0001c0001t0003g0250 a0001c0001t0004g0010 a0001c0001t0004g0011 a0001c0001t0004g0031 a0001c0001t0004g0032 a0001c0001t0004g0033 a0001c0001t0004g0034 a0001c0001t0004g0035 a0001c0001t0004g0217 a0001c0001t0004g0226 a0001c0001t0004g0228 a0001c0001t0004g0230 a0001c0001t0004g0231 a0001c0001t0004g0238 a0001c0001t0004g0242 a0001c0001t0004g0252 a0001c0001t0004g0259 a0001c0001t0004g0311 a0001c0001t0008g0025 a0001c0001t0014g0007 a0001c0001t0016g0137 a0001c0001t0017g0251 a0001c0001t0018g0261 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0258 a0001c0002t0001g0275 a0001c0002t0001g0279 a0001c0002t0001g0280 a0001c0002t0001g0281 a0001c0002t0001g0282 a0001c0002t0001g0283 a0001c0002t0001g0284 a0001c0002t0001g0285 a0001c0002t0001g0286 a0001c0002t0001g0287 a0001c0002t0001g0288 a0001c0002t0001g0289 a0001c0002t0001g0290 a0001c0002t0001g0291 a0001c0002t0001g0294 a0001c0002t0001g0295 a0001c0002t0001g0296 a0001c0002t0001g0297 a0001c0002t0001g0301 a0001c0002t0001g0303 a0001c0002t0001g0308 a0001c0002t0001g0309 a0001c0002t0002g0042 a0001c0004t0003g0005 a0001c0004t0003g0008 a0001c0004t0003g0009 a0001c0004t0003g0026 a0001c0004t0003g0027 a0001c0004t0003g0028 a0001c0004t0003g0186 a0001c0004t0003g0193 a0001c0004t0003g0197 a0001c0004t0003g0198 a0001c0004t0003g0199 a0001c0004t0003g0201 a0001c0004t0003g0202 a0001c0004t0003g0205 a0001c0004t0003g0207 a0001c0004t0003g0213 a0001c0004t0003g0215 a0001c0004t0020g0185 a0001c0004t0023g0192 a0001c0015t0005g0045 a0001c0015t0005g0313 a0001c0015t0005g0314 a0001c0015t0005g0317 a0001c0016t0001g0049 a0001c0016t0001g0133 a0001c0016t0001g0203 a0001c0016t0011g0187 a0001c0017t0001g0245 a0001c0017t0009g0038 a0001c0017t0009g0262 a0001c0017t0009g0263 a0001c0028t0001g0293 a0001c0028t0001g0298 a0001c0029t0004g0235 a0001c0029t0004g0243 a0001c0030t0002g0271 a0001c0030t0002g0272 a0001c0054t0024g0216 a0001c0065t0002g0254 a0004c0005t0001g0002 a0004c0005t0001g0111 a0004c0005t0001g0112 a0004c0005t0001g0113 a0004c0005t0001g0114 a0004c0005t0001g0115 a0004c0005t0001g0118 a0004c0005t0001g0119 a0004c0005t0001g0126 a0004c0005t0001g0131 a0004c0005t0010g0128 a0004c0005t0010g0129 a0004c0005t0019g0124 a0005c0014t0001g0104 a0005c0014t0001g0277 a0005c0014t0001g0299 a0005c0014t0001g0300 a0005c0014t0001g0304 a0005c0019t0003g0209 a0005c0019t0004g0220 a0005c0019t0004g0229 a0005c0019t0026g0011 a0005c0049t0001g0274 a0005c0050t0001g0191 a0005c0051t0009g0038 a0005c0052t0006g0267 a0005c0061t0002g0163 a0005c0062t0003g0214 a0006c0006t0002g0003 a0006c0006t0002g0004 a0006c0006t0002g0142 a0006c0006t0002g0146 a0006c0006t0002g0147 a0006c0006t0002g0148 a0006c0006t0002g0149 a0006c0006t0002g0150 a0006c0006t0002g0151 a0007c0009t0001g0117 a0007c0009t0001g0122 a0007c0009t0001g0134 a0007c0009t0007g0050 a0007c0009t0007g0051 a0007c0009t0007g0052 a0007c0009t0007g0053 a0007c0009t0007g0054 a0007c0009t0021g0048 a0007c0087t0001g0047 a0009c0018t0002g0007 a0009c0018t0002g0036 a0009c0018t0002g0232 a0009c0018t0004g0222 a0009c0045t0001g0278 a0009c0046t0002g0276 a0009c0047t0015g0108 a0009c0057t0025g0249 a0009c0058t0004g0234 a0009c0059t0003g0190 a0013c0013t0006g0156 a0013c0013t0006g0158 a0013c0013t0006g0264 a0013c0013t0006g0265 a0013c0013t0006g0266 a0013c0013t0006g0268 a0014c0022t0001g0305 a0014c0022t0001g0306 a0014c0022t0001g0307 a0014c0048t0002g0154 a0014c0060t0001g0200 a0018c0023t0003g0182 a0018c0023t0003g0183 a0018c0023t0003g0184 a0020c0024t0003g0026 a0020c0024t0003g0029 a0023c0027t0002g0153 a0023c0027t0002g0155 a0024c0031t0005g0046 a0024c0031t0005g0316 a0031c0088t0001g0116 a0032c0086t0001g0127 a0042c0056t0002g0004 a0043c0055t0002g0003 a0044c0068t0002g0273 a0045c0053t0001g0292 a0046c0064t0002g0023 a0047c0063t0002g0160 a0048c0066t0003g0181 a0049c0067t0001g0065	256	388	0.6598	6	c.786 others(13): Show c.786_791dupACCACC	p.Pro others(13): Show p.Pro263_Pro264dup	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	10/24	1313/6728	792/4932	264/1643	INFO_REALIGN_3_PRIME	chr17	TogoVar
KDM6B_chr17_7829217_7859796	7846859	T T	TACCACCA others(2): Show TACCACCACC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00408.hp1 HG00423.hp2 HG00544.hp1 others(34): Show HG00408.hp1 HG00423.hp2 HG00544.hp1 HG00733.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp2 HG01975.hp2 HG01978.hp2 HG02015.hp1 HG02257.hp1 HG02293.hp1 HG02293.hp2 HG02523.hp1 HG02738.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp2 HG03471.hp1 HG03704.hp1 NA18612.hp1 NA18612.hp2 NA18967.hp2 NA18983.hp1 NA18999.hp1 NA19000.hp1 NA19056.hp1 NA19065.hp1 NA19068.hp1 NA19079.hp2 NA19080.hp1 NA19083.hp1 NA19088.hp2 NA20129.hp1	a0003 a0011 a0019 others(5): Show a0003 a0011 a0019 a0025 a0033 a0050 a0051 a0052	a0003c0007 a0003c0011 a0011c0010 others(7): Show a0003c0007 a0003c0011 a0011c0010 a0019c0025 a0019c0044 a0025c0026 a0033c0085 a0050c0043 a0051c0042 a0052c0041	a0003c0007t0002 a0003c0007t0004 a0003c0007t0008 others(10): Show a0003c0007t0002 a0003c0007t0004 a0003c0007t0008 a0003c0011t0003 a0003c0011t0012 a0011c0010t0002 a0019c0025t0001 a0019c0044t0002 a0025c0026t0008 a0033c0085t0001 a0050c0043t0002 a0051c0042t0002 a0052c0041t0001	a0003c0007t0002g0012 a0003c0007t0002g0024 a0003c0007t0002g0162 others(31): Show a0003c0007t0002g0012 a0003c0007t0002g0024 a0003c0007t0002g0162 a0003c0007t0002g0164 a0003c0007t0002g0168 a0003c0007t0002g0171 a0003c0007t0002g0178 a0003c0007t0002g0260 a0003c0007t0004g0221 a0003c0007t0004g0248 a0003c0007t0008g0025 a0003c0011t0003g0005 a0003c0011t0003g0028 a0003c0011t0003g0196 a0003c0011t0003g0208 a0003c0011t0003g0212 a0003c0011t0012g0009 a0011c0010t0002g0004 a0011c0010t0002g0139 a0011c0010t0002g0140 a0011c0010t0002g0141 a0011c0010t0002g0143 a0011c0010t0002g0144 a0011c0010t0002g0145 a0011c0010t0002g0152 a0019c0025t0001g0101 a0019c0025t0001g0310 a0019c0044t0002g0022 a0025c0026t0008g0175 a0025c0026t0008g0176 a0033c0085t0001g0125 a0050c0043t0002g0004 a0051c0042t0002g0138 a0052c0041t0001g0302	37	388	0.0954	9	c.783 others(16): Show c.783_791dupACCACCACC	p.Pro others(13): Show p.Pro262_Pro264dup	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	10/24	1313/6728	792/4932	264/1643	INFO_REALIGN_3_PRIME	chr17	TogoVar
KDM6B_chr17_7829217_7859796	7846859	T T	TACCACCA others(5): Show TACCACCACCACC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02965.hp1 NA19002.hp1 HG02965.hp1 NA19002.hp1	a0026 a0026	a0026c0036 a0026c0040 a0026c0036 a0026c0040	a0026c0036t0001 a0026c0040t0001 a0026c0036t0001 a0026c0040t0001	a0026c0036t0001g0195 a0026c0040t0001g0177 a0026c0036t0001g0195 a0026c0040t0001g0177	2	388	0.0052	12	c.780 others(19): Show c.780_791dupACCACCACCACC	p.Pro others(13): Show p.Pro261_Pro264dup	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	10/24	1313/6728	792/4932	264/1643	INFO_REALIGN_3_PRIME	chr17	TogoVar
KDM6B_chr17_7829217_7859796	7846859	T T	TACCACCA others(8): Show TACCACCACCACCACC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02897.hp2 HG02897.hp2	a0053 a0053	a0053c0039 a0053c0039	a0053c0039t0005 a0053c0039t0005	a0053c0039t0005g0046 a0053c0039t0005g0046	1	388	0.0026	15	c.777 others(22): Show c.777_791dupACCACCACCACCACC	p.Pro others(13): Show p.Pro260_Pro264dup	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	10/24	1313/6728	792/4932	264/1643	INFO_REALIGN_3_PRIME	chr17	TogoVar
KDM6B_chr17_7829217_7859796	7846859	T T	TACCACCA others(11): Show TACCACCACCACCACCACC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02895.hp1 HG02895.hp1	a0054 a0054	a0054c0038 a0054c0038	a0054c0038t0005 a0054c0038t0005	a0054c0038t0005g0315 a0054c0038t0005g0315	1	388	0.0026	18	c.774 others(25): Show c.774_791dupACCACCACCACCACCACC	p.Pro others(13): Show p.Pro259_Pro264dup	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	10/24	1313/6728	792/4932	264/1643	INFO_REALIGN_3_PRIME	chr17	TogoVar
KDM6B_chr17_7829217_7859796	7846859	T T	TACCACCA others(14): Show TACCACCACCACCACCACCACC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18906.hp2 NA18906.hp2	a0034 a0034	a0034c0084 a0034c0084	a0034c0084t0010 a0034c0084t0010	a0034c0084t0010g0130 a0034c0084t0010g0130	1	388	0.0026	21	c.771 others(28): Show c.771_791dupACCACCACCACCACCACCACC	p.Pro others(13): Show p.Pro258_Pro264dup	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	10/24	1313/6728	792/4932	264/1643	INFO_REALIGN_3_PRIME	chr17	TogoVar
KDM6B_chr17_7829217_7859796	7848540	T T	TCAC TCAC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02486.hp2 HG02572.hp2 HG03669.hp1 HG02486.hp2 HG02572.hp2 HG03669.hp1	a0032 a0047 a0055 a0032 a0047 a0055	a0032c0086 a0047c0063 a0055c0037 a0032c0086 a0047c0063 a0055c0037	a0032c0086t0001 a0047c0063t0002 a0055c0037t0001 a0032c0086t0001 a0047c0063t0002 a0055c0037t0001	a0032c0086t0001g0127 a0047c0063t0002g0160 a0055c0037t0001g0135 a0032c0086t0001g0127 a0047c0063t0002g0160 a0055c0037t0001g0135	3	388	0.0077	3	c.228 others(12): Show c.2283_2285dupCAC	p.Thr others(6): Show p.Thr762dup	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	12/24	2807/6728	2286/4932	762/1643	INFO_REALIGN_3_PRIME	chr17	TogoVar
KHSRP_chr19_6408102_6429811	6417821	A A	AGAATGCC others(17): Show AGAATGCCTGGGCACTGGCACCTAG	stop_gained others(1): Show stop_gained disruptive_inframe_insertion	HIGH	HG02523.hp2 HG02523.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0010 a0002c0012t0010	a0002c0012t0010g0112 a0002c0012t0010g0112	1	386	0.0026	24	c.998 others(31): Show c.998_999insCTAGGTGCCAGTGCCCAGGCATTC	p.Ser others(37): Show p.Ser333_Val334insTerValProValProArgHisSer	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding	11/19	1108/4276	998/2244	333/747		chr19	TogoVar
KIF1A_chr2_240708767_240825219	240757423	A A	ATCC ATCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02559.hp1 HG02965.hp2 HG03041.hp2 others(4): Show HG02559.hp1 HG02965.hp2 HG03041.hp2 HG03139.hp2 NA18951.hp1 NA19088.hp2 NA20129.hp1	a0003 a0013 a0003 a0013	a0003c0009 a0003c0036 a0003c0037 others(1): Show a0003c0009 a0003c0036 a0003c0037 a0013c0038	a0003c0009t0006 a0003c0009t0007 a0003c0036t0008 others(2): Show a0003c0009t0006 a0003c0009t0007 a0003c0036t0008 a0003c0037t0002 a0013c0038t0031	a0003c0009t0006g0037 a0003c0009t0006g0126 a0003c0009t0006g0154 others(4): Show a0003c0009t0006g0037 a0003c0009t0006g0126 a0003c0009t0006g0154 a0003c0009t0007g0127 a0003c0036t0008g0290 a0003c0037t0002g0045 a0013c0038t0031g0119	7	330	0.0212	3	c.275 others(12): Show c.2751_2753dupGGA	p.Glu others(6): Show p.Glu917dup	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	27/49	2911/9131	2753/5376	918/1791		chr2	TogoVar
KIF20B_chr10_89696590_89779934	89738145	C C	CTAAAAG CTAAAAG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(142): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00323.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00597.hp2 HG00639.hp1 HG00673.hp2 HG00735.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01106.hp1 HG01109.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01255.hp1 HG01496.hp1 HG01884.hp1 HG01884.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02109.hp2 HG02132.hp2 HG02145.hp2 HG02155.hp1 HG02165.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02895.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18940.hp1 NA18942.hp2 NA18945.hp2 NA18948.hp2 NA18951.hp2 NA18953.hp1 NA18954.hp1 NA18956.hp1 NA18963.hp1 NA18965.hp2 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp2 NA18983.hp1 NA18984.hp2 NA18986.hp2 NA18987.hp2 NA18990.hp1 NA18992.hp2 NA18994.hp2 NA18999.hp2 NA19001.hp1 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19007.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp2 NA19043.hp1 NA19060.hp2 NA19063.hp1 NA19066.hp2 NA19080.hp1 NA19083.hp1 NA19085.hp1 NA19087.hp1 NA19089.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2	a0001 a0007 a0010 others(6): Show a0001 a0007 a0010 a0013 a0021 a0022 a0023 a0024 a0025	a0001c0001 a0001c0025 a0001c0026 others(8): Show a0001c0001 a0001c0025 a0001c0026 a0007c0007 a0010c0010 a0013c0015 a0021c0027 a0022c0024 a0023c0022 a0024c0023 a0025c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0025t0002 a0001c0026t0002 a0007c0007t0002 a0007c0007t0003 a0010c0010t0002 a0010c0010t0008 a0013c0015t0002 a0021c0027t0002 a0022c0024t0002 a0023c0022t0002 a0024c0023t0002 a0025c0021t0009	a0001c0001t0001g0305 a0001c0001t0002g0002 a0001c0001t0002g0004 others(118): Show a0001c0001t0001g0305 a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0231 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0281 a0001c0001t0002g0283 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0292 a0001c0001t0002g0296 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0004g0294 a0001c0001t0004g0295 a0001c0001t0004g0314 a0001c0025t0002g0248 a0001c0026t0002g0268 a0007c0007t0002g0009 a0007c0007t0002g0224 a0007c0007t0002g0225 a0007c0007t0002g0226 a0007c0007t0002g0227 a0007c0007t0002g0228 a0007c0007t0002g0229 a0007c0007t0002g0234 a0007c0007t0003g0068 a0007c0007t0003g0230 a0007c0007t0003g0233 a0010c0010t0002g0032 a0010c0010t0002g0279 a0010c0010t0002g0280 a0010c0010t0002g0282 a0010c0010t0002g0288 a0010c0010t0002g0291 a0010c0010t0008g0284 a0013c0015t0002g0222 a0013c0015t0002g0223 a0021c0027t0002g0261 a0022c0024t0002g0232 a0023c0022t0002g0297 a0024c0023t0002g0265 a0025c0021t0009g0293	145	382	0.3796	6	c.330 others(15): Show c.3308_3309insAGTAAA	p.Lys others(21): Show p.Lys1103_Glu1104insValLys	KIF20B	ENSG00000138182.15	transcript	ENST00000371728.8	protein_coding	20/33	3401/6441	3309/5463	1103/1820	INFO_REALIGN_3_PRIME	chr10	TogoVar
KIF25_chr6_167992671_168050091	168029581	C C	CCCAGATG others(68): Show CCCAGATGACATGGACCTCAGGTCAGCTTCAGCGTGAGAAGCAGGCCAGG CCTGGGTCTGGAGCCGTCCTGGCCTT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0325 a0001c0001t0035g0325	1	375	0.0027	75	c.-2_ others(80): Show c.-2_73dupAGATGACATGGACCTCAGGTCAGCTTCAGCGTGAGAAGCA GGCCAGGCCTGGGTCTGGAGCCGTCCTGGCCTTCC	p.Phe others(86): Show p.Phe24_Pro25insGlnMetThrTrpThrSerGlyGlnLeuGlnArgG luLysGlnAlaArgProGlySerGlyAlaValLeuAlaPhe	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	6/13	1872/3048	74/1155	25/384	INFO_REALIGN_3_PRIME	chr6	TogoVar
KIRREL2_chr19_35851911_35872136	35866332	G G	GGGGGGTA others(14): Show GGGGGGTATTAGGTTGTAGGTT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01074.hp1 HG01074.hp1	a0015 a0015	a0015c0022 a0015c0022	a0015c0022t0001 a0015c0022t0001	a0015c0022t0001g0001 a0015c0022t0001g0001	1	340	0.0029	21	c.196 others(30): Show c.1967_1968insGGGGGTATTAGGTTGTAGGTT	p.Arg others(34): Show p.Arg656_Ala657insGlyValLeuGlyCysArgLeu	KIRREL2	ENSG00000126259.20	transcript	ENST00000360202.10	protein_coding	15/15	2177/2980	1968/2127	656/708		chr19	TogoVar
KLHDC7B_chr22_50540899_50556023	50547870	C C	CCATCCCC others(65): Show CCATCCCCAGCCCTAACCCCAGTCCCAACCCCAGCCCTAAGCCCAGCTCC AACTCCAGCCCCAACCCCAGCCG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02165.hp2 HG03017.hp2 HG03669.hp2 others(2): Show HG02165.hp2 HG03017.hp2 HG03669.hp2 NA19005.hp2 NA19089.hp2	a0013 a0032 a0013 a0032	a0013c0014 a0032c0059 a0013c0014 a0032c0059	a0013c0014t0010 a0032c0059t0016 a0013c0014t0010 a0032c0059t0016	a0013c0014t0010g0000 a0032c0059t0016g0000 a0013c0014t0010g0000 a0032c0059t0016g0000	5	432	0.0116	72	c.168 others(81): Show c.1687_1688insCAACCCCAGCCGCATCCCCAGCCCTAACCCCAGTCC CAACCCCAGCCCTAAGCCCAGCTCCAACTCCAGCCC	p.Ala others(85): Show p.Ala562_Leu563insProThrProAlaAlaSerProAlaLeuThrPr oValProThrProAlaLeuSerProAlaProThrProAla	KLHDC7B	ENSG00000130487.9	transcript	ENST00000648057.3	protein_coding	1/1	2033/5125	1688/3708	563/1235	INFO_REALIGN_3_PRIME	chr22	TogoVar
KLHDC7B_chr22_50540899_50556023	50547870	C C	CCATCCCC others(65): Show CCATCCCCAGCCCTAACCCCAGTCCCAACCCCAGCCCTAAGCCCAGCTCC AACTCCAGCCCTAACCCCAGCCG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02647.hp2 HG03486.hp1 HG02647.hp2 HG03486.hp1	a0022 a0022	a0022c0023 a0022c0023	a0022c0023t0009 a0022c0023t0026 a0022c0023t0009 a0022c0023t0026	a0022c0023t0009g0000 a0022c0023t0026g0000 a0022c0023t0009g0000 a0022c0023t0026g0000	2	432	0.0046	72	c.168 others(81): Show c.1688_1759dupTAACCCCAGCCGCATCCCCAGCCCTAACCCCAGTCC CAACCCCAGCCCTAAGCCCAGCTCCAACTCCAGCCC	p.Leu others(13): Show p.Leu563_Ala586dup	KLHDC7B	ENSG00000130487.9	transcript	ENST00000648057.3	protein_coding	1/1	2105/5125	1760/3708	587/1235	INFO_REALIGN_3_PRIME	chr22	TogoVar
KLHDC7B_chr22_50540899_50556023	50548023	G G	GCCCTAA GCCCTAA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01123.hp1 HG01261.hp2 HG01952.hp1 others(3): Show HG01123.hp1 HG01261.hp2 HG01952.hp1 HG01975.hp2 HG01981.hp2 HG02300.hp1	a0011 a0041 a0011 a0041	a0011c0012 a0041c0049 a0011c0012 a0041c0049	a0011c0012t0002 a0041c0049t0002 a0011c0012t0002 a0041c0049t0002	a0011c0012t0002g0000 a0041c0049t0002g0000 a0011c0012t0002g0000 a0041c0049t0002g0000	6	432	0.0139	6	c.178 others(15): Show c.1783_1784insTAACCC	p.Ala others(19): Show p.Ala594_Pro595insLeuThr	KLHDC7B	ENSG00000130487.9	transcript	ENST00000648057.3	protein_coding	1/1	2129/5125	1784/3708	595/1235	INFO_REALIGN_3_PRIME	chr22	TogoVar
KLHDC7B_chr22_50540899_50556023	50548043	C C	CCTAAGCC others(11): Show CCTAAGCCCAGCTCCAACT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01123.hp1 HG01261.hp2 HG01952.hp1 others(3): Show HG01123.hp1 HG01261.hp2 HG01952.hp1 HG01975.hp2 HG01981.hp2 HG02300.hp1	a0011 a0041 a0011 a0041	a0011c0012 a0041c0049 a0011c0012 a0041c0049	a0011c0012t0002 a0041c0049t0002 a0011c0012t0002 a0041c0049t0002	a0011c0012t0002g0000 a0041c0049t0002g0000 a0011c0012t0002g0000 a0041c0049t0002g0000	6	432	0.0139	18	c.180 others(27): Show c.1801_1802insTAAGCCCAGCTCCAACTC	p.Ala others(31): Show p.Ala600_Pro601insLeuSerProAlaProThr	KLHDC7B	ENSG00000130487.9	transcript	ENST00000648057.3	protein_coding	1/1	2147/5125	1802/3708	601/1235	INFO_REALIGN_3_PRIME	chr22	TogoVar
KLHL1_chr13_69695597_70113452	70107442	G G	GGAGGAAG others(20): Show GGAGGAAGAGGACGGGGAGGACGACGAA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03041.hp2 HG03041.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0023 a0005c0009t0023	a0005c0009t0023g0179 a0005c0009t0023g0179	1	182	0.0055	27	c.257 others(34): Show c.257_258insTTCGTCGTCCTCCCCGTCCTCTTCCTC	p.Ser others(38): Show p.Ser86_Ser87insSerSerSerSerProSerSerSerSer	KLHL1	ENSG00000150361.12	transcript	ENST00000377844.9	protein_coding	1/11	1010/4105	257/2247	86/748		chr13	TogoVar
KMT2A_chr11_118431492_118531832	118436698	C C	CGCGGCG CGCGGCG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02523.hp1 HG02523.hp2 HG02523.hp1 HG02523.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0002 a0002c0008t0001 a0002c0008t0002	a0002c0008t0001g0045 a0002c0008t0002g0032 a0002c0008t0001g0045 a0002c0008t0002g0032	2	200	0.0100	6	c.197 others(13): Show c.197_202dupCGGCGG	p.Ala others(11): Show p.Ala66_Ala67dup	KMT2A	ENSG00000118058.25	transcript	ENST00000534358.8	protein_coding	1/36	224/16600	203/11919	68/3972	INFO_REALIGN_3_PRIME	chr11	TogoVar
KMT2D_chr12_49013978_49065794	49033872	T T	TTGCTGTT others(14): Show TTGCTGTTGTTGCTGCTGCTGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03927.hp2 HG03927.hp2	a0028 a0028	a0028c0045 a0028c0045	a0028c0045t0001 a0028c0045t0001	a0028c0045t0001g0124 a0028c0045t0001g0124	1	302	0.0033	21	c.108 others(32): Show c.10812_10832dupGCAGCAGCAGCAACAACAGCA	p.Gln others(15): Show p.Gln3605_Gln3611dup	KMT2D	ENSG00000167548.18	transcript	ENST00000301067.12	protein_coding	40/55	12051/20635	10832/16614	3611/5537		chr12	TogoVar
KMT2D_chr12_49013978_49065794	49038347	T T	TAGGGCCT others(5): Show TAGGGCCTTGTGG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19001.hp2 NA19001.hp2	a0030 a0030	a0030c0078 a0030c0078	a0030c0078t0002 a0030c0078t0002	a0030c0078t0002g0198 a0030c0078t0002g0198	1	302	0.0033	12	c.899 others(21): Show c.8997_9008dupCCACAAGGCCCT	p.Leu others(27): Show p.Leu3003_Glu3004insHisLysAlaLeu	KMT2D	ENSG00000167548.18	transcript	ENST00000301067.12	protein_coding	35/55	10227/20635	9008/16614	3003/5537		chr12	TogoVar
KRT10_chr17_40813117_40827614	40818942	A A	ACCGTAGC others(17): Show ACCGTAGCCGCCGCTGGAACTGCCG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02965.hp1 HG02965.hp1	a0023 a0023	a0023c0028 a0023c0028	a0023c0028t0001 a0023c0028t0001	a0023c0028t0001g0037 a0023c0028t0001g0037	1	426	0.0024	24	c.156 others(33): Show c.1569_1592dupCGGCAGTTCCAGCGGCGGCTACGG	p.Gly others(37): Show p.Gly531_Gly532insGlySerSerSerGlyGlyTyrGly	KRT10	ENSG00000186395.9	transcript	ENST00000269576.6	protein_coding	7/8	1621/2143	1592/1755	531/584		chr17	TogoVar
KRT10_chr17_40813117_40827614	40819014	T T	TCCGCCCC others(5): Show TCCGCCCCCGTAG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02738.hp2 HG02738.hp2	a0017 a0017	a0017c0024 a0017c0024	a0017c0024t0001 a0017c0024t0001	a0017c0024t0001g0027 a0017c0024t0001g0027	1	426	0.0024	12	c.152 others(21): Show c.1520_1521insCTACGGGGGCGG	p.Gly others(25): Show p.Gly507_Ser508insTyrGlyGlyGly	KRT10	ENSG00000186395.9	transcript	ENST00000269576.6	protein_coding	7/8	1549/2143	1520/1755	507/584		chr17	TogoVar
KRT10_chr17_40813117_40827614	40819077	G G	GCCGCCGC others(8): Show GCCGCCGCCGGAGCTT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02257.hp2 HG03041.hp2 HG03098.hp2 others(3): Show HG02257.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03225.hp2 NA19030.hp1	a0011 a0019 a0011 a0019	a0011c0012 a0019c0022 a0011c0012 a0019c0022	a0011c0012t0001 a0019c0022t0001 a0011c0012t0001 a0019c0022t0001	a0011c0012t0001g0012 a0019c0022t0001g0033 a0011c0012t0001g0012 a0019c0022t0001g0033	6	426	0.0141	15	c.144 others(24): Show c.1443_1457dupAAGCTCCGGCGGCGG	p.Gly others(28): Show p.Gly486_His487insSerSerGlyGlyGly	KRT10	ENSG00000186395.9	transcript	ENST00000269576.6	protein_coding	7/8	1486/2143	1457/1755	486/584		chr17	TogoVar

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