Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

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Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
COMMD2_chr3_149733472_149757489	149750756	TTTTCTGT others(20): Show TTTTCTGTTGTCCAGATAAAGCTGAAGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02738.hp1 HG02738.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0097 a0004c0005t0001g0097	1	424	0.0024	-27	c.297 others(34): Show c.297_323delGCTTCAGCTTTATCTGGACAACAGAAA	p.Leu others(13): Show p.Leu100_Lys108del	COMMD2	ENSG00000114744.9	transcript	ENST00000473414.6	protein_coding	4/5	368/3694	297/600	99/199		chr3	TogoVar
CPEB2_chr4_14997481_15075151	15003704	GCCCGGAC others(8): Show GCCCGGACCTTCCACA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01433.hp2 HG02523.hp1 NA18972.hp2 others(2): Show HG01433.hp2 HG02523.hp1 NA18972.hp2 NA18982.hp1 NA19002.hp1	a0011 a0011	a0011c0014 a0011c0014	a0011c0014t0004 a0011c0014t0004	a0011c0014t0004g0003 a0011c0014t0004g0033 a0011c0014t0004g0170 a0011c0014t0004g0003 a0011c0014t0004g0033 a0011c0014t0004g0170	5	288	0.0174	-15	c.103 others(24): Show c.1037_1051delACCTTCCACACCCGG	p.Asp others(13): Show p.Asp346_Pro350del	CPEB2	ENSG00000137449.17	transcript	ENST00000538197.7	protein_coding	1/12	1230/7069	1037/3105	346/1034	INFO_REALIGN_3_PRIME	chr4	TogoVar
CREB3L2_chr7_137869979_138007086	137928167	CTGG CTGG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(194): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00673.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01123.hp1 HG01123.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03490.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18944.hp1 NA18944.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18964.hp2 NA18967.hp1 NA18968.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18979.hp2 NA18983.hp1 NA18984.hp1 NA18989.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp2 NA19065.hp2 NA19066.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0001 a0001c0004 a0001c0007 others(4): Show a0001c0001 a0001c0004 a0001c0007 a0001c0010 a0001c0011 a0004c0005 a0007c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(66): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0020 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0032 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0049 a0001c0001t0051 a0001c0001t0053 a0001c0001t0055 a0001c0001t0057 a0001c0001t0058 a0001c0001t0063 a0001c0001t0064 a0001c0001t0068 a0001c0004t0001 a0001c0004t0003 a0001c0004t0008 a0001c0004t0010 a0001c0004t0016 a0001c0004t0017 a0001c0004t0019 a0001c0004t0021 a0001c0004t0030 a0001c0004t0031 a0001c0004t0033 a0001c0004t0048 a0001c0004t0056 a0001c0004t0059 a0001c0004t0067 a0001c0007t0009 a0001c0007t0015 a0001c0007t0019 a0001c0007t0023 a0001c0007t0028 a0001c0007t0066 a0001c0010t0003 a0001c0011t0012 a0004c0005t0001 a0004c0005t0002 a0004c0005t0004 a0004c0005t0009 a0004c0005t0014 a0004c0005t0029 a0004c0005t0050 a0007c0009t0011	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0012 others(193): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0069 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0096 a0001c0001t0001g0101 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0129 a0001c0001t0001g0134 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0181 a0001c0001t0001g0203 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0265 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0282 a0001c0001t0002g0006 a0001c0001t0002g0008 a0001c0001t0002g0079 a0001c0001t0002g0107 a0001c0001t0002g0138 a0001c0001t0002g0142 a0001c0001t0002g0155 a0001c0001t0002g0160 a0001c0001t0002g0163 a0001c0001t0002g0201 a0001c0001t0002g0225 a0001c0001t0002g0229 a0001c0001t0002g0238 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0251 a0001c0001t0002g0255 a0001c0001t0002g0257 a0001c0001t0003g0013 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0046 a0001c0001t0003g0055 a0001c0001t0003g0058 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0073 a0001c0001t0003g0099 a0001c0001t0003g0109 a0001c0001t0003g0115 a0001c0001t0003g0132 a0001c0001t0003g0136 a0001c0001t0003g0167 a0001c0001t0003g0169 a0001c0001t0003g0189 a0001c0001t0003g0192 a0001c0001t0004g0140 a0001c0001t0004g0188 a0001c0001t0004g0202 a0001c0001t0004g0205 a0001c0001t0005g0002 a0001c0001t0005g0016 a0001c0001t0005g0022 a0001c0001t0005g0030 a0001c0001t0005g0035 a0001c0001t0005g0143 a0001c0001t0005g0215 a0001c0001t0005g0271 a0001c0001t0006g0024 a0001c0001t0006g0072 a0001c0001t0006g0182 a0001c0001t0006g0228 a0001c0001t0006g0234 a0001c0001t0007g0018 a0001c0001t0007g0029 a0001c0001t0007g0077 a0001c0001t0007g0218 a0001c0001t0007g0221 a0001c0001t0007g0256 a0001c0001t0008g0010 a0001c0001t0008g0112 a0001c0001t0008g0210 a0001c0001t0008g0214 a0001c0001t0009g0174 a0001c0001t0009g0224 a0001c0001t0009g0248 a0001c0001t0011g0199 a0001c0001t0011g0243 a0001c0001t0012g0062 a0001c0001t0012g0119 a0001c0001t0012g0121 a0001c0001t0012g0223 a0001c0001t0013g0268 a0001c0001t0014g0245 a0001c0001t0016g0031 a0001c0001t0016g0275 a0001c0001t0020g0053 a0001c0001t0020g0277 a0001c0001t0020g0279 a0001c0001t0024g0217 a0001c0001t0024g0220 a0001c0001t0025g0249 a0001c0001t0026g0146 a0001c0001t0026g0178 a0001c0001t0027g0039 a0001c0001t0028g0028 a0001c0001t0029g0172 a0001c0001t0032g0211 a0001c0001t0037g0106 a0001c0001t0038g0123 a0001c0001t0039g0216 a0001c0001t0040g0061 a0001c0001t0045g0091 a0001c0001t0046g0276 a0001c0001t0047g0104 a0001c0001t0049g0095 a0001c0001t0051g0232 a0001c0001t0053g0051 a0001c0001t0055g0026 a0001c0001t0057g0244 a0001c0001t0058g0064 a0001c0001t0063g0068 a0001c0001t0064g0247 a0001c0001t0068g0284 a0001c0004t0001g0100 a0001c0004t0003g0102 a0001c0004t0008g0173 a0001c0004t0010g0078 a0001c0004t0010g0162 a0001c0004t0010g0200 a0001c0004t0010g0278 a0001c0004t0010g0280 a0001c0004t0016g0157 a0001c0004t0017g0240 a0001c0004t0019g0017 a0001c0004t0019g0080 a0001c0004t0021g0158 a0001c0004t0030g0191 a0001c0004t0030g0281 a0001c0004t0031g0009 a0001c0004t0031g0111 a0001c0004t0033g0003 a0001c0004t0048g0019 a0001c0004t0056g0250 a0001c0004t0059g0094 a0001c0004t0067g0286 a0001c0007t0009g0246 a0001c0007t0015g0120 a0001c0007t0019g0154 a0001c0007t0023g0153 a0001c0007t0028g0222 a0001c0007t0066g0239 a0001c0010t0003g0159 a0001c0011t0012g0263 a0004c0005t0001g0150 a0004c0005t0001g0253 a0004c0005t0001g0273 a0004c0005t0002g0258 a0004c0005t0004g0116 a0004c0005t0004g0166 a0004c0005t0009g0036 a0004c0005t0014g0137 a0004c0005t0029g0184 a0004c0005t0050g0103 a0007c0009t0011g0098	197	288	0.6840	-3	c.299 others(10): Show c.299_301delCCA	p.Thr others(6): Show p.Thr100del	CREB3L2	ENSG00000182158.16	transcript	ENST00000330387.11	protein_coding	2/12	682/7441	299/1563	100/520		chr7	TogoVar
CRLF1_chr19_18588237_18611799	18606579	GAGC GAGC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00408.hp1 HG00423.hp1 HG00544.hp2 others(153): Show HG00408.hp1 HG00423.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG01069.hp1 HG01074.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp2 HG01515.hp1 HG01517.hp2 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02148.hp2 HG02165.hp1 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02615.hp1 HG02683.hp1 HG02717.hp2 HG02723.hp1 HG02738.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02976.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03490.hp2 HG03579.hp2 HG03654.hp1 HG03710.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp2 NA18941.hp2 NA18942.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp2 NA18947.hp1 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18955.hp1 NA18956.hp1 NA18963.hp1 NA18964.hp2 NA18970.hp2 NA18971.hp2 NA18973.hp2 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp2 NA18985.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA19000.hp1 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp2 NA19054.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19089.hp2 NA19090.hp2 NA19091.hp2 NA20129.hp1 NA20905.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0002c0003 a0002c0007 others(2): Show a0002c0002 a0002c0003 a0002c0007 a0002c0009 a0004c0010	a0002c0002t0001 a0002c0003t0001 a0002c0007t0001 others(2): Show a0002c0002t0001 a0002c0003t0001 a0002c0007t0001 a0002c0009t0001 a0004c0010t0001	a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0007 others(44): Show a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0007 a0002c0002t0001g0009 a0002c0002t0001g0016 a0002c0002t0001g0027 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0050 a0002c0002t0001g0052 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0003t0001g0013 a0002c0003t0001g0015 a0002c0003t0001g0028 a0002c0003t0001g0045 a0002c0003t0001g0049 a0002c0003t0001g0051 a0002c0003t0001g0073 a0002c0003t0001g0078 a0002c0007t0001g0060 a0002c0007t0001g0061 a0002c0009t0001g0053 a0004c0010t0001g0065	156	408	0.3824	-3	c.75_ others(8): Show c.75_77delGCT	p.Leu others(5): Show p.Leu26del	CRLF1	ENSG00000006016.12	transcript	ENST00000392386.8	protein_coding	1/9	220/1741	75/1269	25/422		chr19	TogoVar
CRYBG2_chr1_26316865_26359130	26345014	AACCTCTT others(44): Show AACCTCTTTCCAGGTGGGAAATGAGGCATCAGGAGCACCGGGGCCCTTCA CG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(173): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00438.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00733.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp2 HG01975.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18944.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp2 NA18953.hp1 NA18956.hp1 NA18960.hp1 NA18961.hp2 NA18962.hp2 NA18966.hp2 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18979.hp1 NA18980.hp1 NA18982.hp2 NA18984.hp2 NA18989.hp1 NA19001.hp1 NA19002.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19055.hp2 NA19060.hp1 NA19062.hp2 NA19064.hp1 NA19067.hp2 NA19068.hp1 NA19079.hp1 NA19081.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0002 a0003 a0006 others(13): Show a0002 a0003 a0006 a0007 a0011 a0016 a0017 a0018 a0019 a0025 a0030 a0031 a0032 a0033 a0034 a0035	a0002c0002 a0003c0003 a0003c0015 others(20): Show a0002c0002 a0003c0003 a0003c0015 a0003c0032 a0003c0034 a0003c0039 a0003c0042 a0006c0008 a0006c0018 a0007c0006 a0011c0012 a0016c0020 a0017c0031 a0017c0036 a0018c0019 a0019c0021 a0025c0029 a0030c0041 a0031c0035 a0032c0037 a0033c0038 a0034c0040 a0035c0033	a0002c0002t0001 a0002c0002t0005 a0003c0003t0001 others(22): Show a0002c0002t0001 a0002c0002t0005 a0003c0003t0001 a0003c0003t0002 a0003c0015t0001 a0003c0032t0001 a0003c0034t0001 a0003c0039t0002 a0003c0042t0001 a0006c0008t0001 a0006c0018t0001 a0007c0006t0001 a0011c0012t0001 a0016c0020t0002 a0017c0031t0001 a0017c0036t0001 a0018c0019t0002 a0019c0021t0001 a0025c0029t0001 a0030c0041t0001 a0031c0035t0001 a0032c0037t0001 a0033c0038t0002 a0034c0040t0002 a0035c0033t0001	a0002c0002t0001g0002 a0002c0002t0001g0015 a0002c0002t0001g0016 others(156): Show a0002c0002t0001g0002 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0030 a0002c0002t0001g0034 a0002c0002t0001g0055 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0119 a0002c0002t0001g0132 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0136 a0002c0002t0001g0138 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0156 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0165 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0194 a0002c0002t0001g0267 a0002c0002t0001g0301 a0002c0002t0001g0302 a0002c0002t0001g0304 a0002c0002t0001g0305 a0002c0002t0001g0306 a0002c0002t0005g0060 a0003c0003t0001g0024 a0003c0003t0001g0035 a0003c0003t0001g0036 a0003c0003t0001g0041 a0003c0003t0001g0187 a0003c0003t0001g0188 a0003c0003t0001g0189 a0003c0003t0001g0190 a0003c0003t0001g0191 a0003c0003t0001g0193 a0003c0003t0001g0198 a0003c0003t0001g0237 a0003c0003t0001g0240 a0003c0003t0001g0253 a0003c0003t0001g0271 a0003c0003t0001g0272 a0003c0003t0001g0273 a0003c0003t0001g0274 a0003c0003t0001g0276 a0003c0003t0001g0277 a0003c0003t0001g0278 a0003c0003t0001g0279 a0003c0003t0001g0299 a0003c0003t0001g0310 a0003c0003t0001g0311 a0003c0003t0001g0312 a0003c0003t0001g0313 a0003c0003t0001g0314 a0003c0003t0001g0315 a0003c0003t0001g0317 a0003c0003t0001g0318 a0003c0003t0002g0121 a0003c0003t0002g0195 a0003c0003t0002g0233 a0003c0003t0002g0236 a0003c0003t0002g0241 a0003c0003t0002g0242 a0003c0003t0002g0246 a0003c0003t0002g0247 a0003c0003t0002g0250 a0003c0003t0002g0251 a0003c0003t0002g0252 a0003c0003t0002g0255 a0003c0003t0002g0257 a0003c0003t0002g0270 a0003c0003t0002g0275 a0003c0003t0002g0319 a0003c0003t0002g0320 a0003c0015t0001g0031 a0003c0015t0001g0199 a0003c0015t0001g0200 a0003c0032t0001g0229 a0003c0034t0001g0040 a0003c0039t0002g0316 a0003c0042t0001g0228 a0006c0008t0001g0008 a0006c0008t0001g0037 a0006c0008t0001g0042 a0006c0008t0001g0043 a0006c0008t0001g0044 a0006c0008t0001g0192 a0006c0008t0001g0248 a0006c0018t0001g0227 a0006c0018t0001g0234 a0007c0006t0001g0004 a0007c0006t0001g0023 a0007c0006t0001g0204 a0007c0006t0001g0261 a0007c0006t0001g0262 a0007c0006t0001g0263 a0011c0012t0001g0056 a0011c0012t0001g0059 a0011c0012t0001g0224 a0011c0012t0001g0225 a0016c0020t0002g0033 a0016c0020t0002g0266 a0017c0031t0001g0137 a0017c0036t0001g0175 a0018c0019t0002g0238 a0018c0019t0002g0239 a0019c0021t0001g0025 a0025c0029t0001g0321 a0030c0041t0001g0181 a0031c0035t0001g0139 a0032c0037t0001g0235 a0033c0038t0002g0254 a0034c0040t0002g0322 a0035c0033t0001g0303	176	376	0.4681	-51	c.159 others(60): Show c.1593_1643delCGTGAAGGGCCCCGGTGCTCCTGATGCCTCATTTCC CACCTGGAAAGAGGT	p.Val others(13): Show p.Val532_Val548del	CRYBG2	ENSG00000176092.17	transcript	ENST00000308182.10	protein_coding	2/20	1793/5239	1593/4986	531/1661		chr1	TogoVar
CSNK1A1L_chr13_37098259_37110664	37105243	CTGT CTGT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01891.hp1 HG02451.hp1 HG02922.hp2 others(2): Show HG01891.hp1 HG02451.hp1 HG02922.hp2 HG03130.hp2 HG03471.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0000 a0004c0004t0004g0000	5	404	0.0124	-3	c.11_ others(8): Show c.11_13delACA	p.Asn others(4): Show p.Asn4del	CSNK1A1L	ENSG00000180138.7	transcript	ENST00000379800.4	protein_coding	1/1	421/2406	11/1014	4/337		chr13	TogoVar
CSTF2T_chr10_51690486_51704595	51697903	CTGTATAC others(8): Show CTGTATACCTCCTCCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00438.hp1 HG02258.hp2 HG02630.hp2 others(7): Show HG00438.hp1 HG02258.hp2 HG02630.hp2 HG02896.hp2 HG02897.hp2 NA18942.hp1 NA18945.hp2 NA18983.hp1 NA18995.hp2 NA19088.hp1	a0002 a0002	a0002c0005 a0002c0007 a0002c0005 a0002c0007	a0002c0005t0001 a0002c0007t0002 a0002c0005t0001 a0002c0007t0002	a0002c0005t0001g0000 a0002c0007t0002g0000 a0002c0005t0001g0000 a0002c0007t0002g0000	10	428	0.0234	-15	c.163 others(24): Show c.1632_1646delAGGAGGAGGTATACA	p.Gly others(13): Show p.Gly545_Gln549del	CSTF2T	ENSG00000177613.9	transcript	ENST00000331173.6	protein_coding	1/1	1692/4110	1632/1851	544/616		chr10	TogoVar
CSTF2T_chr10_51690486_51704595	51698890	CCCAGGGC others(5): Show CCCAGGGCCAGGG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03486.hp2 HG03486.hp2	a0005 a0005	a0005c0014 a0005c0014	a0005c0014t0002 a0005c0014t0002	a0005c0014t0002g0000 a0005c0014t0002g0000	1	428	0.0023	-12	c.648 others(19): Show c.648_659delCCCTGGCCCTGG	p.Pro others(13): Show p.Pro217_Gly220del	CSTF2T	ENSG00000177613.9	transcript	ENST00000331173.6	protein_coding	1/1	705/4110	648/1851	216/616		chr10	TogoVar
CT47C1_chrX_119067993_119081765	119073870	TGCAGAAG others(41): Show TGCAGAAGAGCCCGCAGAGGAGGCCTCAGAGAAGCCCACAGAGGAGGCC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01891.hp2 HG02886.hp1 HG03139.hp1 others(8): Show HG01891.hp2 HG02886.hp1 HG03139.hp1 HG03209.hp1 HG03486.hp1 HG03516.hp1 NA18906.hp2 NA18946.hp2 NA18969.hp2 NA18991.hp1 NA19085.hp1	a0002 a0004 a0006 a0002 a0004 a0006	a0002c0007 a0002c0012 a0002c0013 others(2): Show a0002c0007 a0002c0012 a0002c0013 a0004c0005 a0006c0008	a0002c0007t0003 a0002c0012t0003 a0002c0013t0003 others(3): Show a0002c0007t0003 a0002c0012t0003 a0002c0013t0003 a0004c0005t0002 a0006c0008t0003 a0006c0008t0005	a0002c0007t0003g0005 a0002c0012t0003g0005 a0002c0013t0003g0005 others(3): Show a0002c0007t0003g0005 a0002c0012t0003g0005 a0002c0013t0003g0005 a0004c0005t0002g0002 a0006c0008t0003g0013 a0006c0008t0005g0012	11	310	0.0355	-48	c.699 others(55): Show c.699_746delAGAGCCCGCAGAGGAGGCCTCAGAGAAGCCCACAGAGG AGGCCGCAGA	p.Glu others(13): Show p.Glu234_Glu249del	CT47C1	ENSG00000277535.4	transcript	ENST00000620151.4	protein_coding	1/3	932/1772	699/975	233/324	INFO_REALIGN_3_PRIME	chrX	TogoVar
CTBS_chr1_84544611_84579440	84574315	CGCAGCGC others(2): Show CGCAGCGCCA	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00140.hp1 HG00280.hp2 HG00408.hp1 others(104): Show HG00140.hp1 HG00280.hp2 HG00408.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00733.hp1 HG00735.hp1 HG00741.hp2 HG01106.hp2 HG01109.hp2 HG01168.hp2 HG01192.hp1 HG01346.hp1 HG01361.hp1 HG01496.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01975.hp1 HG01993.hp1 HG02055.hp1 HG02145.hp1 HG02148.hp1 HG02257.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03834.hp1 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18940.hp2 NA18942.hp2 NA18968.hp2 NA18980.hp1 NA18988.hp2 NA18989.hp2 NA18994.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19057.hp2 NA19058.hp1 NA19063.hp2 NA19077.hp2 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0002 a0003 a0006 others(1): Show a0002 a0003 a0006 a0011	a0002c0003 a0002c0005 a0002c0010 others(5): Show a0002c0003 a0002c0005 a0002c0010 a0002c0015 a0003c0004 a0006c0011 a0006c0021 a0011c0016	a0002c0003t0005 a0002c0003t0006 a0002c0003t0007 others(14): Show a0002c0003t0005 a0002c0003t0006 a0002c0003t0007 a0002c0003t0014 a0002c0003t0029 a0002c0005t0003 a0002c0005t0004 a0002c0005t0016 a0002c0010t0006 a0002c0015t0004 a0003c0004t0002 a0003c0004t0009 a0003c0004t0024 a0006c0011t0002 a0006c0011t0003 a0006c0021t0006 a0011c0016t0002	a0002c0003t0005g0003 a0002c0003t0005g0019 a0002c0003t0005g0049 others(47): Show a0002c0003t0005g0003 a0002c0003t0005g0019 a0002c0003t0005g0049 a0002c0003t0005g0057 a0002c0003t0006g0009 a0002c0003t0006g0018 a0002c0003t0006g0048 a0002c0003t0007g0027 a0002c0003t0007g0028 a0002c0003t0007g0029 a0002c0003t0007g0054 a0002c0003t0007g0055 a0002c0003t0007g0056 a0002c0003t0014g0058 a0002c0003t0014g0059 a0002c0003t0029g0047 a0002c0005t0003g0106 a0002c0005t0003g0111 a0002c0005t0004g0005 a0002c0005t0004g0025 a0002c0005t0004g0040 a0002c0005t0004g0105 a0002c0005t0004g0107 a0002c0005t0004g0109 a0002c0005t0004g0110 a0002c0005t0004g0112 a0002c0005t0016g0108 a0002c0010t0006g0051 a0002c0010t0006g0052 a0002c0010t0006g0053 a0002c0015t0004g0050 a0003c0004t0002g0006 a0003c0004t0002g0013 a0003c0004t0002g0045 a0003c0004t0002g0128 a0003c0004t0002g0129 a0003c0004t0002g0131 a0003c0004t0002g0132 a0003c0004t0002g0134 a0003c0004t0002g0135 a0003c0004t0002g0136 a0003c0004t0002g0137 a0003c0004t0009g0017 a0003c0004t0009g0133 a0003c0004t0024g0138 a0006c0011t0002g0127 a0006c0011t0002g0130 a0006c0011t0003g0139 a0006c0021t0006g0140 a0011c0016t0002g0060	107	340	0.3147	-9	c.92_ others(15): Show c.92_100delTGGCGCTGC	p.Leu others(11): Show p.Leu31_Leu33del	CTBS	ENSG00000117151.13	transcript	ENST00000370630.6	protein_coding	1/7	125/6571	92/1158	31/385		chr1	TogoVar
CTBS_chr1_84544611_84579440	84574341	CAGCAGCG others(2): Show CAGCAGCGCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01109.hp1 HG01261.hp1 HG01515.hp1 others(3): Show HG01109.hp1 HG01261.hp1 HG01515.hp1 HG01517.hp2 HG02040.hp2 HG03017.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0008 a0002c0007t0008	a0002c0007t0008g0010 a0002c0007t0008g0010	6	340	0.0177	-9	c.66_ others(14): Show c.66_74delAGCGCTGCT	p.Ala others(11): Show p.Ala23_Leu25del	CTBS	ENSG00000117151.13	transcript	ENST00000370630.6	protein_coding	1/7	99/6571	66/1158	22/385		chr1	TogoVar
CTSA_chr20_45886335_45903820	45891598	CCTG CCTG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(309): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02109.hp1 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18994.hp1 NA18994.hp2 NA18997.hp2 NA18998.hp2 NA18999.hp1 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19062.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19074.hp2 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0004c0007	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0006t0001 a0004c0007t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(50): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0002g0002 a0001c0003t0001g0001 a0001c0003t0001g0005 a0001c0003t0001g0012 a0001c0003t0001g0015 a0001c0003t0001g0054 a0001c0003t0001g0060 a0001c0003t0001g0063 a0001c0003t0001g0064 a0001c0004t0001g0007 a0001c0004t0001g0008 a0001c0004t0001g0021 a0001c0004t0001g0036 a0001c0004t0001g0053 a0001c0004t0001g0057 a0001c0004t0001g0062 a0001c0005t0001g0024 a0001c0005t0001g0037 a0001c0006t0001g0025 a0004c0007t0001g0007	312	430	0.7256	-3	c.54_ others(8): Show c.54_56delGCT	p.Leu others(5): Show p.Leu19del	CTSA	ENSG00000064601.21	transcript	ENST00000646241.3	protein_coding	2/15	99/1858	54/1443	18/480	INFO_REALIGN_3_PRIME	chr20	TogoVar
CUL9_chr6_43177196_43229587	43198673	TGGG TGGG	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00639.hp1 HG02486.hp1 HG02970.hp1 others(5): Show HG00639.hp1 HG02486.hp1 HG02970.hp1 HG03130.hp2 HG03195.hp2 HG03486.hp2 NA18965.hp2 NA19066.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0012 a0003c0005t0001g0123 a0003c0005t0001g0124 others(3): Show a0003c0005t0001g0012 a0003c0005t0001g0123 a0003c0005t0001g0124 a0003c0005t0001g0152 a0003c0005t0001g0156 a0003c0005t0001g0179	8	276	0.0290	-3	c.287 others(12): Show c.2871_2873delGGG	p.Gly others(6): Show p.Gly958del	CUL9	ENSG00000112659.14	transcript	ENST00000252050.9	protein_coding	12/41	2934/7759	2871/7554	957/2517	INFO_REALIGN_3_PRIME	chr6	TogoVar
CXCL6_chr4_73831678_73843760	73837238	ACCCGGAA others(5): Show ACCCGGAAGCCCC	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18950.hp1 NA18950.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0005 a0002c0002t0001g0005	1	444	0.0023	-12	c.279 others(19): Show c.279_290delCCCGGAAGCCCC	p.Pro others(11): Show p.Pro94_Pro97del	CXCL6	ENSG00000124875.10	transcript	ENST00000226317.10	protein_coding	3/4	352/1537	279/345	93/114		chr4	TogoVar
CXXC4_chr4_104463308_104499894	104491455	CCCCCCGC others(11): Show CCCCCCGCCGCCGCCCCCG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18953.hp1 NA18953.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0004 a0007c0008t0004	a0007c0008t0004g0066 a0007c0008t0004g0066	1	332	0.0030	-18	c.330 others(25): Show c.330_347delCGGGGGCGGCGGCGGGGG	p.Gly others(13): Show p.Gly111_Gly116del	CXXC4	ENSG00000168772.12	transcript	ENST00000394767.3	protein_coding	2/3	798/5569	330/1104	110/367		chr4	TogoVar
CYBA_chr16_88638289_88656053	88646129	CCGCTCGC others(14): Show CCGCTCGCAATGGCCAGGCAGG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18956.hp2 NA18956.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0068 a0008c0011t0001g0068	1	460	0.0022	-21	c.335 others(28): Show c.335_355delCCTGCCTGGCCATTGCGAGCG	p.Ala others(13): Show p.Ala112_Ser118del	CYBA	ENSG00000051523.12	transcript	ENST00000261623.8	protein_coding	5/6	395/692	335/588	112/195		chr16	TogoVar
CYLC2_chr9_102990333_103023488	103005527	ATGCCAAG others(5): Show ATGCCAAGAAAGT	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02723.hp2 HG02886.hp1 HG02723.hp2 HG02886.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0041 a0005c0006t0041	a0005c0006t0041g0031 a0005c0006t0041g0031	2	448	0.0045	-12	c.908 others(19): Show c.908_919delTTGCCAAGAAAG	p.Val others(13): Show p.Val303_Lys306del	CYLC2	ENSG00000155833.15	transcript	ENST00000374798.8	protein_coding	5/8	956/2149	908/1047	303/348	INFO_REALIGN_3_PRIME	chr9	TogoVar
CYP21A2_chr6_32033415_32046644	32038437	CCTG CCTG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp2 HG00621.hp2 HG00639.hp1 others(104): Show HG00099.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG01081.hp2 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp2 HG01255.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01934.hp2 HG01943.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp2 HG02056.hp1 HG02071.hp2 HG02129.hp1 HG02145.hp2 HG02155.hp1 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp2 HG02559.hp2 HG02622.hp1 HG03239.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG04199.hp1 NA18747.hp2 NA18939.hp1 NA18941.hp2 NA18943.hp2 NA18946.hp2 NA18948.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18957.hp1 NA18959.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18967.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp2 NA18975.hp1 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18987.hp2 NA18988.hp1 NA18989.hp2 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18999.hp2 NA19000.hp1 NA19011.hp2 NA19055.hp1 NA19058.hp2 NA19060.hp2 NA19062.hp1 NA19065.hp2 NA19068.hp2 NA19072.hp1 NA19082.hp2 NA19083.hp1 NA19087.hp2 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0002 a0008 a0011 others(5): Show a0002 a0008 a0011 a0012 a0013 a0019 a0029 a0030	a0002c0002 a0002c0006 a0002c0015 others(13): Show a0002c0002 a0002c0006 a0002c0015 a0002c0018 a0002c0031 a0008c0019 a0008c0022 a0011c0023 a0011c0024 a0012c0014 a0013c0020 a0013c0036 a0019c0033 a0019c0034 a0029c0032 a0030c0035	a0002c0002t0001 a0002c0002t0002 a0002c0002t0011 others(20): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0011 a0002c0006t0001 a0002c0006t0017 a0002c0006t0018 a0002c0015t0001 a0002c0018t0001 a0002c0031t0001 a0008c0019t0002 a0008c0019t0003 a0008c0019t0006 a0008c0022t0001 a0011c0023t0001 a0011c0024t0001 a0012c0014t0001 a0012c0014t0012 a0013c0020t0001 a0013c0036t0001 a0019c0033t0001 a0019c0034t0001 a0029c0032t0001 a0030c0035t0001	a0002c0002t0001g0001 a0002c0002t0001g0011 a0002c0002t0001g0016 others(32): Show a0002c0002t0001g0001 a0002c0002t0001g0011 a0002c0002t0001g0016 a0002c0002t0001g0018 a0002c0002t0001g0077 a0002c0002t0001g0079 a0002c0002t0002g0001 a0002c0002t0011g0001 a0002c0006t0001g0001 a0002c0006t0001g0011 a0002c0006t0001g0016 a0002c0006t0001g0018 a0002c0006t0001g0074 a0002c0006t0001g0076 a0002c0006t0017g0016 a0002c0006t0018g0018 a0002c0015t0001g0001 a0002c0018t0001g0038 a0002c0031t0001g0018 a0008c0019t0002g0013 a0008c0019t0003g0010 a0008c0019t0006g0018 a0008c0022t0001g0006 a0011c0023t0001g0011 a0011c0023t0001g0016 a0011c0024t0001g0001 a0012c0014t0001g0001 a0012c0014t0001g0011 a0012c0014t0012g0016 a0013c0020t0001g0018 a0013c0036t0001g0011 a0019c0033t0001g0016 a0019c0034t0001g0078 a0029c0032t0001g0011 a0030c0035t0001g0001	107	459	0.2331	-3	c.29_ others(8): Show c.29_31delTGC	p.Leu others(5): Show p.Leu10del	CYP21A2	ENSG00000231852.9	transcript	ENST00000644719.2	protein_coding	1/10	37/2006	29/1488	10/495	INFO_REALIGN_3_PRIME	chr6	TogoVar
CYP4F11_chr19_15907377_15939529	15922008	ATCAGGAA others(33): Show ATCAGGAACAGGCCAGCACCTGCACTCACCATTCAATCTCT	A A	splice_donor_variant others(3): Show splice_donor_variant disruptive_inframe_deletion splice_region_variant intron_variant	HIGH	HG03139.hp1 HG03139.hp1	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0007 a0009c0014t0007	a0009c0014t0007g0070 a0009c0014t0007g0070	1	386	0.0026	-40	c.110 others(52): Show c.1104_1115+28delAGAGATTGAATGGTGAGTGCAGGTGCTGGCCTG TTCCTGA	p.Ile others(19): Show p.Ile368_Trp372delinsMet	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	8/12		1104/1575	368/524		chr19	TogoVar
DAP3_chr1_155684091_155744010	155738163	CAGA CAGA	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00438.hp2 HG02135.hp2 HG02523.hp1 others(8): Show HG00438.hp2 HG02135.hp2 HG02523.hp1 HG03490.hp2 HG03492.hp1 NA18957.hp1 NA18968.hp1 NA18968.hp2 NA18978.hp2 NA19004.hp1 NA19057.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0008 a0002c0003t0011 others(1): Show a0002c0003t0003 a0002c0003t0008 a0002c0003t0011 a0002c0003t0020	a0002c0003t0003g0179 a0002c0003t0003g0181 a0002c0003t0003g0182 others(8): Show a0002c0003t0003g0179 a0002c0003t0003g0181 a0002c0003t0003g0182 a0002c0003t0003g0191 a0002c0003t0003g0193 a0002c0003t0003g0195 a0002c0003t0003g0261 a0002c0003t0008g0190 a0002c0003t0011g0012 a0002c0003t0011g0013 a0002c0003t0020g0194	11	288	0.0382	-3	c.112 others(12): Show c.1124_1126delAAG	p.Glu others(6): Show p.Glu375del	DAP3	ENSG00000132676.16	transcript	ENST00000368336.10	protein_coding	13/13	1215/2056	1124/1197	375/398	INFO_REALIGN_3_PRIME	chr1	TogoVar
DAXX_chr6_33313558_33327959	33320103	GCCT GCCT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18939.hp1 NA18942.hp2 NA18981.hp2 others(2): Show NA18939.hp1 NA18942.hp2 NA18981.hp2 NA19074.hp2 NA19077.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0002 a0002c0005t0001 a0002c0005t0002	a0002c0005t0001g0043 a0002c0005t0002g0014 a0002c0005t0001g0043 a0002c0005t0002g0014	5	375	0.0133	-3	c.137 others(12): Show c.1370_1372delAGG	p.Glu others(6): Show p.Glu457del	DAXX	ENSG00000204209.13	transcript	ENST00000374542.10	protein_coding	5/8	1522/2558	1370/2223	457/740		chr6	TogoVar
DBX1_chr11_20151155_20165475	20159199	TAAG TAAG	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01496.hp2 HG01884.hp1 HG01884.hp2 others(12): Show HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG02145.hp2 HG02257.hp1 HG02451.hp2 HG02486.hp1 HG02630.hp2 HG02818.hp1 HG02895.hp2 HG02897.hp2 HG03098.hp1 HG03209.hp2 HG03540.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0014 a0003c0004t0002g0021 a0003c0004t0002g0042 others(1): Show a0003c0004t0002g0014 a0003c0004t0002g0021 a0003c0004t0002g0042 a0003c0004t0002g0085	15	480	0.0313	-3	c.458 others(10): Show c.458_460delCTT	p.Ser others(6): Show p.Ser153del	DBX1	ENSG00000109851.7	transcript	ENST00000524983.3	protein_coding	2/4	611/1242	458/1032	153/343		chr11	TogoVar
DCAF8L2_chrX_27585344_27754942	27747279	GGAA GGAA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02257.hp2 HG03471.hp1 HG02257.hp2 HG03471.hp1	a0003 a0003	a0003c0032 a0003c0033 a0003c0032 a0003c0033	a0003c0032t0001 a0003c0033t0002 a0003c0032t0001 a0003c0033t0002	a0003c0032t0001g0120 a0003c0033t0002g0103 a0003c0032t0001g0120 a0003c0033t0002g0103	2	262	0.0076	-3	c.387 others(10): Show c.387_389delAGA	p.Glu others(6): Show p.Glu130del	DCAF8L2	ENSG00000189186.11	transcript	ENST00000451261.7	protein_coding	5/5	825/3485	387/1896	129/631	INFO_REALIGN_3_PRIME	chrX	TogoVar
DCAF8L2_chrX_27585344_27754942	27747282	AGAG AGAG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00597.hp2 HG00733.hp2 HG01081.hp1 others(37): Show HG00597.hp2 HG00733.hp2 HG01081.hp1 HG01106.hp1 HG01109.hp1 HG01168.hp1 HG01175.hp2 HG01884.hp2 HG01891.hp2 HG02015.hp1 HG02040.hp1 HG02083.hp1 HG02622.hp1 HG03195.hp2 HG03540.hp1 HG04228.hp1 NA18612.hp1 NA18906.hp2 NA18940.hp1 NA18943.hp1 NA18946.hp2 NA18951.hp2 NA18961.hp1 NA18962.hp1 NA18967.hp1 NA18970.hp1 NA18973.hp2 NA18981.hp1 NA18986.hp1 NA19005.hp1 NA19055.hp1 NA19057.hp2 NA19058.hp1 NA19062.hp1 NA19063.hp1 NA19070.hp1 NA19072.hp1 NA19075.hp1 NA19090.hp2 NA20300.hp2	a0003 a0012 a0016 a0003 a0012 a0016	a0003c0003 a0012c0012 a0016c0015 a0003c0003 a0012c0012 a0016c0015	a0003c0003t0001 a0003c0003t0002 a0012c0012t0001 others(1): Show a0003c0003t0001 a0003c0003t0002 a0012c0012t0001 a0016c0015t0001	a0003c0003t0001g0011 a0003c0003t0001g0015 a0003c0003t0001g0016 others(37): Show a0003c0003t0001g0011 a0003c0003t0001g0015 a0003c0003t0001g0016 a0003c0003t0001g0017 a0003c0003t0001g0018 a0003c0003t0001g0019 a0003c0003t0001g0021 a0003c0003t0001g0126 a0003c0003t0001g0132 a0003c0003t0001g0136 a0003c0003t0001g0137 a0003c0003t0001g0145 a0003c0003t0001g0149 a0003c0003t0001g0152 a0003c0003t0001g0157 a0003c0003t0001g0165 a0003c0003t0001g0170 a0003c0003t0001g0179 a0003c0003t0001g0185 a0003c0003t0001g0187 a0003c0003t0001g0188 a0003c0003t0001g0204 a0003c0003t0001g0208 a0003c0003t0001g0215 a0003c0003t0001g0221 a0003c0003t0001g0223 a0003c0003t0001g0236 a0003c0003t0001g0237 a0003c0003t0001g0238 a0003c0003t0001g0240 a0003c0003t0001g0242 a0003c0003t0001g0247 a0003c0003t0001g0249 a0003c0003t0001g0250 a0003c0003t0002g0045 a0012c0012t0001g0101 a0012c0012t0001g0102 a0012c0012t0001g0138 a0016c0015t0001g0087 a0016c0015t0001g0198	40	262	0.1527	-3	c.432 others(10): Show c.432_434delGGA	p.Glu others(6): Show p.Glu145del	DCAF8L2	ENSG00000189186.11	transcript	ENST00000451261.7	protein_coding	5/5	870/3485	432/1896	144/631	INFO_REALIGN_3_PRIME	chrX	TogoVar
DCAF8L2_chrX_27585344_27754942	27747282	AGAGGAG AGAGGAG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00438.hp1 HG00639.hp1 HG00673.hp1 others(27): Show HG00438.hp1 HG00639.hp1 HG00673.hp1 HG00735.hp2 HG00741.hp1 HG01123.hp2 HG01515.hp1 HG02486.hp1 HG02615.hp1 HG02622.hp2 HG02886.hp2 HG03041.hp1 HG03453.hp2 HG03490.hp1 HG03492.hp1 HG03540.hp2 HG04115.hp1 HG06807.hp1 NA18522.hp1 NA18944.hp1 NA18956.hp2 NA18973.hp1 NA18992.hp1 NA18992.hp2 NA19004.hp1 NA19012.hp1 NA19030.hp2 NA19056.hp1 NA19079.hp1 NA20905.hp1	a0004 a0011 a0004 a0011	a0004c0004 a0004c0027 a0011c0009 a0004c0004 a0004c0027 a0011c0009	a0004c0004t0001 a0004c0004t0002 a0004c0004t0003 others(4): Show a0004c0004t0001 a0004c0004t0002 a0004c0004t0003 a0004c0004t0007 a0004c0004t0010 a0004c0027t0001 a0011c0009t0001	a0004c0004t0001g0002 a0004c0004t0001g0020 a0004c0004t0001g0094 others(26): Show a0004c0004t0001g0002 a0004c0004t0001g0020 a0004c0004t0001g0094 a0004c0004t0001g0104 a0004c0004t0001g0133 a0004c0004t0001g0147 a0004c0004t0001g0162 a0004c0004t0001g0171 a0004c0004t0001g0173 a0004c0004t0001g0174 a0004c0004t0001g0186 a0004c0004t0001g0192 a0004c0004t0001g0195 a0004c0004t0001g0222 a0004c0004t0001g0241 a0004c0004t0001g0245 a0004c0004t0002g0009 a0004c0004t0003g0057 a0004c0004t0003g0062 a0004c0004t0003g0063 a0004c0004t0003g0065 a0004c0004t0003g0066 a0004c0004t0007g0207 a0004c0004t0010g0067 a0004c0027t0001g0097 a0011c0009t0001g0025 a0011c0009t0001g0026 a0011c0009t0001g0077 a0011c0009t0001g0231	30	262	0.1145	-6	c.429 others(13): Show c.429_434delGGAGGA	p.Glu others(13): Show p.Glu144_Glu145del	DCAF8L2	ENSG00000189186.11	transcript	ENST00000451261.7	protein_coding	5/5	867/3485	429/1896	143/631	INFO_REALIGN_3_PRIME	chrX	TogoVar
DCAF8L2_chrX_27585344_27754942	27747282	AGAGGAGG others(2): Show AGAGGAGGAG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00323.hp1 HG00423.hp1 HG00423.hp2 others(67): Show HG00323.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00609.hp1 HG00621.hp1 HG00735.hp1 HG00738.hp1 HG01168.hp2 HG01169.hp2 HG01256.hp1 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01884.hp1 HG01978.hp1 HG02004.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02273.hp1 HG02559.hp1 HG02559.hp2 HG02615.hp2 HG02683.hp1 HG02723.hp2 HG02738.hp1 HG02886.hp1 HG02897.hp1 HG02976.hp1 HG03130.hp1 HG03209.hp1 HG03225.hp1 HG03486.hp1 HG03688.hp1 HG04204.hp1 NA18747.hp1 NA18942.hp2 NA18945.hp1 NA18946.hp1 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18956.hp1 NA18964.hp1 NA18966.hp1 NA18971.hp1 NA18972.hp2 NA18975.hp2 NA18977.hp1 NA18981.hp2 NA18982.hp1 NA19000.hp1 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19066.hp1 NA19068.hp1 NA19076.hp1 NA19078.hp1 NA19078.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19090.hp1 NA19091.hp1 NA20300.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0005 a0002c0002 a0005c0005	a0002c0002t0001 a0002c0002t0002 a0005c0005t0001 others(1): Show a0002c0002t0001 a0002c0002t0002 a0005c0005t0001 a0005c0005t0003	a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0115 others(67): Show a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0115 a0002c0002t0001g0135 a0002c0002t0001g0139 a0002c0002t0002g0004 a0002c0002t0002g0006 a0002c0002t0002g0007 a0002c0002t0002g0008 a0002c0002t0002g0010 a0002c0002t0002g0012 a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0024 a0002c0002t0002g0027 a0002c0002t0002g0030 a0002c0002t0002g0035 a0002c0002t0002g0036 a0002c0002t0002g0037 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0041 a0002c0002t0002g0042 a0002c0002t0002g0046 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0106 a0002c0002t0002g0118 a0002c0002t0002g0119 a0002c0002t0002g0125 a0002c0002t0002g0127 a0002c0002t0002g0130 a0002c0002t0002g0131 a0002c0002t0002g0142 a0002c0002t0002g0143 a0002c0002t0002g0148 a0002c0002t0002g0151 a0002c0002t0002g0161 a0002c0002t0002g0177 a0002c0002t0002g0181 a0002c0002t0002g0182 a0002c0002t0002g0196 a0002c0002t0002g0205 a0002c0002t0002g0206 a0002c0002t0002g0211 a0002c0002t0002g0243 a0002c0002t0002g0246 a0002c0002t0002g0248 a0005c0005t0001g0048 a0005c0005t0001g0049 a0005c0005t0001g0079 a0005c0005t0001g0080 a0005c0005t0001g0081 a0005c0005t0001g0082 a0005c0005t0001g0083 a0005c0005t0001g0092 a0005c0005t0001g0093 a0005c0005t0001g0095 a0005c0005t0001g0099 a0005c0005t0001g0209 a0005c0005t0001g0218 a0005c0005t0001g0219 a0005c0005t0001g0220 a0005c0005t0001g0224 a0005c0005t0001g0230 a0005c0005t0001g0233 a0005c0005t0001g0235 a0005c0005t0003g0073	70	262	0.2672	-9	c.426 others(16): Show c.426_434delGGAGGAGGA	p.Glu others(13): Show p.Glu143_Glu145del	DCAF8L2	ENSG00000189186.11	transcript	ENST00000451261.7	protein_coding	5/5	864/3485	426/1896	142/631	INFO_REALIGN_3_PRIME	chrX	TogoVar
DCAF8L2_chrX_27585344_27754942	27747282	AGAGGAGG others(5): Show AGAGGAGGAGGAG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00558.hp2 HG00597.hp1 HG01243.hp1 others(10): Show HG00558.hp2 HG00597.hp1 HG01243.hp1 HG01891.hp1 HG02027.hp1 HG02132.hp1 HG02572.hp1 HG02809.hp1 HG03516.hp2 HG03579.hp1 NA19057.hp1 NA19083.hp1 NA21309.hp2	a0007 a0019 a0007 a0019	a0007c0007 a0019c0023 a0007c0007 a0019c0023	a0007c0007t0001 a0007c0007t0002 a0007c0007t0003 others(1): Show a0007c0007t0001 a0007c0007t0002 a0007c0007t0003 a0019c0023t0003	a0007c0007t0001g0105 a0007c0007t0001g0172 a0007c0007t0002g0001 others(9): Show a0007c0007t0001g0105 a0007c0007t0001g0172 a0007c0007t0002g0001 a0007c0007t0002g0005 a0007c0007t0002g0028 a0007c0007t0002g0034 a0007c0007t0002g0043 a0007c0007t0002g0051 a0007c0007t0003g0070 a0007c0007t0003g0071 a0007c0007t0003g0072 a0019c0023t0003g0064	13	262	0.0496	-12	c.423 others(19): Show c.423_434delGGAGGAGGAGGA	p.Glu others(13): Show p.Glu142_Glu145del	DCAF8L2	ENSG00000189186.11	transcript	ENST00000451261.7	protein_coding	5/5	861/3485	423/1896	141/631	INFO_REALIGN_3_PRIME	chrX	TogoVar
DCAF8L2_chrX_27585344_27754942	27747282	AGAGGAGG others(8): Show AGAGGAGGAGGAGGAG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02647.hp1 HG02647.hp1	a0022 a0022	a0022c0025 a0022c0025	a0022c0025t0001 a0022c0025t0001	a0022c0025t0001g0112 a0022c0025t0001g0112	1	262	0.0038	-15	c.420 others(22): Show c.420_434delGGAGGAGGAGGAGGA	p.Glu others(13): Show p.Glu141_Glu145del	DCAF8L2	ENSG00000189186.11	transcript	ENST00000451261.7	protein_coding	5/5	858/3485	420/1896	140/631	INFO_REALIGN_3_PRIME	chrX	TogoVar
DCAF8L2_chrX_27585344_27754942	27747282	AGAGGAGG others(11): Show AGAGGAGGAGGAGGAGGAG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA20129.hp2 NA20129.hp2	a0023 a0023	a0023c0024 a0023c0024	a0023c0024t0003 a0023c0024t0003	a0023c0024t0003g0075 a0023c0024t0003g0075	1	262	0.0038	-18	c.417 others(25): Show c.417_434delGGAGGAGGAGGAGGAGGA	p.Glu others(13): Show p.Glu140_Glu145del	DCAF8L2	ENSG00000189186.11	transcript	ENST00000451261.7	protein_coding	5/5	855/3485	417/1896	139/631	INFO_REALIGN_3_PRIME	chrX	TogoVar
DCAF8L2_chrX_27585344_27754942	27747318	GGAGGAGG others(5): Show GGAGGAGGAGGAA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00733.hp1 HG00733.hp1	a0007 a0007	a0007c0026 a0007c0026	a0007c0026t0001 a0007c0026t0001	a0007c0026t0001g0109 a0007c0026t0001g0109	1	262	0.0038	-12	c.426 others(19): Show c.426_437delGGAGGAGGAAGA	p.Glu others(13): Show p.Glu143_Glu146del	DCAF8L2	ENSG00000189186.11	transcript	ENST00000451261.7	protein_coding	5/5	864/3485	426/1896	142/631	INFO_REALIGN_3_PRIME	chrX	TogoVar
DCBLD1_chr6_117477674_117554797	117544527	GGAA GGAA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02809.hp1 HG02818.hp1 HG02895.hp2 others(3): Show HG02809.hp1 HG02818.hp1 HG02895.hp2 HG02922.hp1 HG02976.hp2 NA20300.hp2	a0005 a0005	a0005c0009 a0005c0018 a0005c0009 a0005c0018	a0005c0009t0001 a0005c0018t0001 a0005c0009t0001 a0005c0018t0001	a0005c0009t0001g0221 a0005c0009t0001g0222 a0005c0009t0001g0227 others(3): Show a0005c0009t0001g0221 a0005c0009t0001g0222 a0005c0009t0001g0227 a0005c0009t0001g0240 a0005c0009t0001g0241 a0005c0018t0001g0322	6	370	0.0162	-3	c.145 others(12): Show c.1455_1457delGAA	p.Lys others(6): Show p.Lys486del	DCBLD1	ENSG00000164465.19	transcript	ENST00000338728.10	protein_coding	13/15	1563/3614	1455/2148	485/715	INFO_REALIGN_3_PRIME	chr6	TogoVar
DCX_chrX_111288779_111417192	111400990	CTGT CTGT	C C	disruptive_inframe_deletion others(1): Show disruptive_inframe_deletion splice_region_variant	MODERATE	NA18989.hp1 NA18989.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0135 a0002c0003t0001g0135	1	183	0.0055	-3	c.702 others(10): Show c.702_704delACA	p.Gln others(6): Show p.Gln235del	DCX	ENSG00000077279.21	transcript	ENST00000636035.2	protein_coding	3/7	781/9086	702/1101	234/366		chrX	TogoVar
DDX51_chr12_132131594_132149319	132143818	CGGCGCCT others(29): Show CGGCGCCTCCTCGCTGCTCCCTGCGCTGGGCTCCCCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00673.hp2 HG00741.hp1 HG01167.hp1 others(15): Show HG00673.hp2 HG00741.hp1 HG01167.hp1 HG01243.hp2 HG01891.hp2 HG02083.hp2 HG02257.hp1 HG02886.hp1 HG02965.hp2 HG02976.hp2 HG03471.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 NA18906.hp2 NA18971.hp2 NA18993.hp2 NA19011.hp2	a0004 a0007 a0004 a0007	a0004c0004 a0004c0012 a0007c0008 a0004c0004 a0004c0012 a0007c0008	a0004c0004t0006 a0004c0004t0008 a0004c0004t0023 others(5): Show a0004c0004t0006 a0004c0004t0008 a0004c0004t0023 a0004c0004t0038 a0004c0004t0039 a0004c0012t0013 a0007c0008t0001 a0007c0008t0025	a0004c0004t0006g0081 a0004c0004t0008g0009 a0004c0004t0023g0080 others(5): Show a0004c0004t0006g0081 a0004c0004t0008g0009 a0004c0004t0023g0080 a0004c0004t0038g0079 a0004c0004t0039g0082 a0004c0012t0013g0018 a0007c0008t0001g0010 a0007c0008t0025g0083	18	334	0.0539	-36	c.360 others(43): Show c.360_395delAGGGGAGCCCAGCGCAGGGAGCAGCGAGGAGGCGCC	p.Gly others(13): Show p.Gly121_Pro132del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding	2/15	418/4702	360/2001	120/666		chr12	TogoVar
DEFB132_chr20_252724_266096	257794	CTGGTCT CTGGTCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(260): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00642.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02056.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp2 NA18949.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp2 NA18981.hp1 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18992.hp1 NA18994.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp2 NA19058.hp2 NA19060.hp2 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19072.hp2 NA19074.hp1 NA19075.hp1 NA19079.hp1 NA19080.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0007 a0009 a0010	a0001c0001 a0003c0004 a0004c0003 others(3): Show a0001c0001 a0003c0004 a0004c0003 a0007c0007 a0009c0010 a0010c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0026 a0003c0004t0001 a0003c0004t0003 a0003c0004t0015 a0003c0004t0016 a0004c0003t0006 a0004c0003t0023 a0004c0003t0024 a0007c0007t0005 a0009c0010t0001 a0010c0009t0002	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0016 others(32): Show a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0002g0001 a0001c0001t0003g0001 a0001c0001t0003g0003 a0001c0001t0003g0006 a0001c0001t0005g0001 a0001c0001t0005g0006 a0001c0001t0007g0010 a0001c0001t0008g0007 a0001c0001t0008g0014 a0001c0001t0010g0001 a0001c0001t0017g0001 a0001c0001t0019g0006 a0001c0001t0020g0001 a0001c0001t0021g0001 a0001c0001t0022g0012 a0001c0001t0026g0003 a0003c0004t0001g0003 a0003c0004t0003g0003 a0003c0004t0003g0020 a0003c0004t0015g0003 a0003c0004t0016g0003 a0004c0003t0006g0005 a0004c0003t0023g0005 a0004c0003t0024g0005 a0007c0007t0005g0006 a0009c0010t0001g0001 a0010c0009t0002g0010	263	430	0.6116	-6	c.20_ others(11): Show c.20_25delTCTTGG	p.Val others(9): Show p.Val7_Leu8del	DEFB132	ENSG00000186458.5	transcript	ENST00000382376.4	protein_coding	1/2	75/2133	20/288	7/95	INFO_REALIGN_3_PRIME	chr20	TogoVar
DGKK_chrX_50360409_50475825	50470064	GGGCGAT GGGCGAT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01167.hp1 HG01169.hp1 HG02109.hp2 others(10): Show HG01167.hp1 HG01169.hp1 HG02109.hp2 HG02451.hp1 HG02818.hp1 HG02886.hp2 HG02976.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG06807.hp2 NA19240.hp2 NA20752.hp1	a0003 a0004 a0003 a0004	a0003c0006 a0003c0010 a0004c0007 a0003c0006 a0003c0010 a0004c0007	a0003c0006t0002 a0003c0006t0003 a0003c0010t0001 others(3): Show a0003c0006t0002 a0003c0006t0003 a0003c0010t0001 a0003c0010t0006 a0004c0007t0002 a0004c0007t0004	a0003c0006t0002g0223 a0003c0006t0002g0224 a0003c0006t0002g0225 others(9): Show a0003c0006t0002g0223 a0003c0006t0002g0224 a0003c0006t0002g0225 a0003c0006t0002g0226 a0003c0006t0003g0010 a0003c0010t0001g0228 a0003c0010t0006g0227 a0004c0007t0002g0231 a0004c0007t0002g0232 a0004c0007t0002g0233 a0004c0007t0002g0234 a0004c0007t0004g0230	13	248	0.0524	-6	c.609 others(13): Show c.609_614delATCGCC	p.Ser others(13): Show p.Ser204_Pro205del	DGKK	ENSG00000274588.2	transcript	ENST00000611977.2	protein_coding	1/28	761/7494	609/3816	203/1271		chrX	TogoVar
DHX34_chr19_47344315_47387704	47379900	TGGAGGA TGGAGGA	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01168.hp1 NA18954.hp2 NA18970.hp2 others(1): Show HG01168.hp1 NA18954.hp2 NA18970.hp2 NA18998.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0003 a0003c0005t0001g0023 a0003c0005t0001g0107 a0003c0005t0001g0003 a0003c0005t0001g0023 a0003c0005t0001g0107	4	382	0.0105	-6	c.291 others(15): Show c.2910_2915delGGAGGA	p.Glu others(13): Show p.Glu970_Glu971del	DHX34	ENSG00000134815.19	transcript	ENST00000328771.9	protein_coding	14/17	3225/4338	2910/3432	970/1143	INFO_REALIGN_3_PRIME	chr19	TogoVar
DHX57_chr2_38792729_38880934	38868268	TCCA TCCA	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02572.hp1 HG03225.hp1 NA18906.hp1 HG02572.hp1 HG03225.hp1 NA18906.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0003 a0004c0006t0003	a0004c0006t0003g0268 a0004c0006t0003g0269 a0004c0006t0003g0270 a0004c0006t0003g0268 a0004c0006t0003g0269 a0004c0006t0003g0270	3	284	0.0106	-3	c.135 others(10): Show c.135_137delTGG	p.Gly others(5): Show p.Gly46del	DHX57	ENSG00000163214.21	transcript	ENST00000457308.6	protein_coding	2/24	291/4885	135/4161	45/1386		chr2	TogoVar
DIAPH1_chr5_141510021_141624000	141573996	TGGA TGGA	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01070.hp2 HG01934.hp2 HG02451.hp1 others(1): Show HG01070.hp2 HG01934.hp2 HG02451.hp1 HG02486.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0109 a0004c0006t0001g0116 a0004c0006t0001g0122 others(1): Show a0004c0006t0001g0109 a0004c0006t0001g0116 a0004c0006t0001g0122 a0004c0006t0001g0123	4	336	0.0119	-3	c.185 others(12): Show c.1851_1853delTCC	p.Pro others(6): Show p.Pro618del	DIAPH1	ENSG00000131504.18	transcript	ENST00000389054.8	protein_coding	16/28	1939/5735	1851/3819	617/1272		chr5	TogoVar
DICER1_chr14_95081228_95162529	95126595	AGTAGAAT others(11): Show AGTAGAATCTCTTTCTTTT	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA19089.hp1 NA19089.hp1	a0009 a0009	a0009c0019 a0009c0019	a0009c0019t0002 a0009c0019t0002	a0009c0019t0002g0235 a0009c0019t0002g0235	1	306	0.0033	-18	c.870 others(25): Show c.870_887delAAAAGAAAGAGATTCTAC	p.Lys others(13): Show p.Lys291_Thr296del	DICER1	ENSG00000100697.17	transcript	ENST00000343455.8	protein_coding	7/27	1232/10384	870/5769	290/1922		chr14	TogoVar
DIDO1_chr20_62872743_62931505	62882074	CGCTGCTG others(5): Show CGCTGCTGTTGTG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01106.hp1 HG01106.hp1	a0024 a0024	a0024c0040 a0024c0040	a0024c0040t0001 a0024c0040t0001	a0024c0040t0001g0244 a0024c0040t0001g0244	1	320	0.0031	-12	c.387 others(21): Show c.3870_3881delCACAACAGCAGC	p.Thr others(15): Show p.Thr1291_Ala1294del	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding	16/16	4147/8479	3870/6723	1290/2240		chr20	TogoVar
DLX6_chr7_97000553_97016040	97006108	AGCCGCCG others(5): Show AGCCGCCGCCGCC	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02080.hp1 HG02080.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0007 a0005c0006t0007	a0005c0006t0007g0001 a0005c0006t0007g0001	1	408	0.0025	-12	c.149 others(19): Show c.149_160delCGCCGCCGCCGC	p.Pro others(11): Show p.Pro50_Pro53del	DLX6	ENSG00000006377.11	transcript	ENST00000518156.3	protein_coding	1/3	574/2300	149/882	50/293	INFO_REALIGN_3_PRIME	chr7	TogoVar
DLX6_chr7_97000553_97016040	97006232	GCAC GCAC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00423.hp2 NA18942.hp1 NA19006.hp1 others(1): Show HG00423.hp2 NA18942.hp1 NA19006.hp1 NA19066.hp1	a0003 a0006 a0003 a0006	a0003c0003 a0006c0010 a0003c0003 a0006c0010	a0003c0003t0002 a0003c0003t0010 a0006c0010t0002 a0003c0003t0002 a0003c0003t0010 a0006c0010t0002	a0003c0003t0002g0003 a0003c0003t0010g0003 a0006c0010t0002g0003 a0003c0003t0002g0003 a0003c0003t0010g0003 a0006c0010t0002g0003	4	408	0.0098	-3	c.273 others(10): Show c.273_275delCCA	p.His others(5): Show p.His91del	DLX6	ENSG00000006377.11	transcript	ENST00000518156.3	protein_coding	1/3	698/2300	273/882	91/293	INFO_REALIGN_3_PRIME	chr7	TogoVar
DMKN_chr19_35492220_35518649	35511459	ACTGCTGC others(44): Show ACTGCTGCCACCACTGCTGCCGCCACTGCTGCCGCCACTGCTGCTGCCAC TG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00408.hp1 HG00423.hp1 others(113): Show HG00099.hp1 HG00408.hp1 HG00423.hp1 HG00544.hp2 HG00558.hp1 HG00609.hp2 HG00733.hp1 HG01069.hp1 HG01099.hp1 HG01167.hp1 HG01169.hp2 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01433.hp2 HG01496.hp2 HG01884.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01978.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02080.hp2 HG02129.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02523.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02723.hp1 HG02738.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG04115.hp1 NA18939.hp2 NA18940.hp2 NA18946.hp1 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18962.hp2 NA18964.hp1 NA18965.hp1 NA18970.hp2 NA18971.hp1 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18987.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18999.hp1 NA18999.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19012.hp2 NA19030.hp1 NA19054.hp1 NA19055.hp2 NA19056.hp1 NA19058.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19076.hp2 NA19077.hp1 NA19079.hp2 NA19080.hp1 NA19083.hp2 NA19086.hp1 NA19090.hp1 NA19091.hp1	a0001 a0011 a0025 a0001 a0011 a0025	a0001c0001 a0001c0026 a0001c0051 others(3): Show a0001c0001 a0001c0026 a0001c0051 a0011c0016 a0011c0018 a0025c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0026t0001 a0001c0051t0001 a0011c0016t0001 a0011c0018t0001 a0025c0023t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0010 others(54): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0026 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0002g0208 a0001c0001t0006g0248 a0001c0026t0001g0055 a0001c0051t0001g0269 a0011c0016t0001g0142 a0011c0016t0001g0143 a0011c0016t0001g0144 a0011c0016t0001g0145 a0011c0016t0001g0146 a0011c0018t0001g0022 a0011c0018t0001g0164 a0025c0023t0001g0202 a0025c0023t0001g0203	116	442	0.2624	-51	c.819 others(58): Show c.819_869delCAGTGGCAGCAGCAGTGGCGGCAGCAGTGGCGGCAGCA GTGGTGGCAGCAG	p.Ser others(13): Show p.Ser274_Ser290del	DMKN	ENSG00000161249.21	transcript	ENST00000339686.8	protein_coding	5/16	1043/1924	819/1431	273/476		chr19	TogoVar
DMKN_chr19_35492220_35518649	35511468	ACCACTGC others(5): Show ACCACTGCTGCCG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01257.hp1 HG02145.hp2 HG02257.hp2 others(12): Show HG01257.hp1 HG02145.hp2 HG02257.hp2 HG02451.hp1 HG02622.hp2 HG02717.hp2 HG02818.hp2 HG03225.hp1 HG03453.hp1 HG03486.hp2 HG03516.hp2 HG03579.hp1 NA18522.hp1 NA18906.hp1 NA19043.hp1	a0009 a0020 a0027 others(1): Show a0009 a0020 a0027 a0040	a0009c0010 a0009c0034 a0020c0025 others(2): Show a0009c0010 a0009c0034 a0020c0025 a0027c0042 a0040c0032	a0009c0010t0001 a0009c0010t0002 a0009c0010t0004 others(4): Show a0009c0010t0001 a0009c0010t0002 a0009c0010t0004 a0009c0034t0003 a0020c0025t0001 a0027c0042t0004 a0040c0032t0001	a0009c0010t0001g0041 a0009c0010t0001g0158 a0009c0010t0002g0153 others(11): Show a0009c0010t0001g0041 a0009c0010t0001g0158 a0009c0010t0002g0153 a0009c0010t0002g0157 a0009c0010t0004g0156 a0009c0010t0004g0159 a0009c0010t0004g0160 a0009c0010t0004g0161 a0009c0010t0004g0165 a0009c0034t0003g0058 a0020c0025t0001g0230 a0020c0025t0001g0236 a0027c0042t0004g0205 a0040c0032t0001g0152	15	442	0.0339	-12	c.849 others(19): Show c.849_860delCGGCAGCAGTGG	p.Gly others(13): Show p.Gly284_Gly287del	DMKN	ENSG00000161249.21	transcript	ENST00000339686.8	protein_coding	5/16	1034/1924	849/1431	283/476		chr19	TogoVar
DMKN_chr19_35492220_35518649	35511468	ACCACTGC others(17): Show ACCACTGCTGCCGCCACTGCTGCCG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02055.hp1 HG03098.hp1 HG03130.hp2 HG02055.hp1 HG03098.hp1 HG03130.hp2	a0024 a0031 a0024 a0031	a0024c0021 a0031c0048 a0024c0021 a0031c0048	a0024c0021t0004 a0031c0048t0001 a0024c0021t0004 a0031c0048t0001	a0024c0021t0004g0162 a0024c0021t0004g0163 a0031c0048t0001g0268 a0024c0021t0004g0162 a0024c0021t0004g0163 a0031c0048t0001g0268	3	442	0.0068	-24	c.837 others(31): Show c.837_860delCGGCAGCAGTGGCGGCAGCAGTGG	p.Gly others(13): Show p.Gly280_Gly287del	DMKN	ENSG00000161249.21	transcript	ENST00000339686.8	protein_coding	5/16	1034/1924	837/1431	279/476		chr19	TogoVar
DMKN_chr19_35492220_35518649	35511492	GCCACTGC others(20): Show GCCACTGCTGCTGCCACTGCTGCTGCCA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18747.hp1 NA18747.hp1	a0038 a0038	a0038c0031 a0038c0031	a0038c0031t0001 a0038c0031t0001	a0038c0031t0001g0119 a0038c0031t0001g0119	1	442	0.0023	-27	c.810 others(34): Show c.810_836delTGGCAGCAGCAGTGGCAGCAGCAGTGG	p.Gly others(13): Show p.Gly271_Gly279del	DMKN	ENSG00000161249.21	transcript	ENST00000339686.8	protein_coding	5/16	1010/1924	810/1431	270/476		chr19	TogoVar
DMKN_chr19_35492220_35518649	35511495	ACTGCTGC others(8): Show ACTGCTGCTGCCACTG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02895.hp1 HG02895.hp1	a0028 a0028	a0028c0050 a0028c0050	a0028c0050t0001 a0028c0050t0001	a0028c0050t0001g0267 a0028c0050t0001g0267	1	442	0.0023	-15	c.819 others(22): Show c.819_833delCAGTGGCAGCAGCAG	p.Ser others(13): Show p.Ser274_Ser278del	DMKN	ENSG00000161249.21	transcript	ENST00000339686.8	protein_coding	5/16	1007/1924	819/1431	273/476		chr19	TogoVar
DMKN_chr19_35492220_35518649	35511504	GCCACTGC others(8): Show GCCACTGCTGCTGCCA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00558.hp2 HG02074.hp1 HG02572.hp2 others(9): Show HG00558.hp2 HG02074.hp1 HG02572.hp2 NA18964.hp2 NA18969.hp2 NA18979.hp2 NA18982.hp2 NA18989.hp1 NA18998.hp2 NA19011.hp2 NA19057.hp2 NA19088.hp2	a0014 a0017 a0034 a0014 a0017 a0034	a0014c0013 a0017c0015 a0034c0039 a0014c0013 a0017c0015 a0034c0039	a0014c0013t0001 a0017c0015t0001 a0034c0039t0004 a0014c0013t0001 a0017c0015t0001 a0034c0039t0004	a0014c0013t0001g0019 a0014c0013t0001g0089 a0014c0013t0001g0118 others(7): Show a0014c0013t0001g0019 a0014c0013t0001g0089 a0014c0013t0001g0118 a0014c0013t0001g0167 a0017c0015t0001g0071 a0017c0015t0001g0081 a0017c0015t0001g0082 a0017c0015t0001g0083 a0017c0015t0001g0084 a0034c0039t0004g0228	12	442	0.0272	-15	c.810 others(22): Show c.810_824delTGGCAGCAGCAGTGG	p.Gly others(13): Show p.Gly271_Gly275del	DMKN	ENSG00000161249.21	transcript	ENST00000339686.8	protein_coding	5/16	998/1924	810/1431	270/476		chr19	TogoVar
DMKN_chr19_35492220_35518649	35511516	GCCA GCCA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00408.hp2 HG00438.hp1 HG00438.hp2 others(79): Show HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG02027.hp2 HG02040.hp2 HG02109.hp2 HG02135.hp1 HG02486.hp1 HG02486.hp2 HG02738.hp2 HG02886.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03453.hp2 HG03491.hp2 HG03710.hp1 HG03710.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp2 NA18940.hp1 NA18944.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18961.hp2 NA18962.hp1 NA18965.hp2 NA18967.hp1 NA18968.hp2 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18984.hp1 NA18987.hp2 NA18990.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA19000.hp2 NA19002.hp1 NA19004.hp2 NA19006.hp2 NA19007.hp2 NA19011.hp1 NA19012.hp1 NA19030.hp2 NA19054.hp2 NA19057.hp1 NA19058.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19074.hp2 NA19078.hp1 NA19080.hp2 NA19082.hp1 NA19083.hp1 NA19084.hp2 NA19085.hp2 NA21309.hp2	a0004 a0006 a0008 others(2): Show a0004 a0006 a0008 a0023 a0036	a0004c0004 a0006c0006 a0008c0008 others(2): Show a0004c0004 a0006c0006 a0008c0008 a0023c0027 a0036c0035	a0004c0004t0001 a0006c0006t0001 a0006c0006t0002 others(4): Show a0004c0004t0001 a0006c0006t0001 a0006c0006t0002 a0008c0008t0001 a0008c0008t0002 a0023c0027t0001 a0036c0035t0001	a0004c0004t0001g0004 a0004c0004t0001g0006 a0004c0004t0001g0017 others(47): Show a0004c0004t0001g0004 a0004c0004t0001g0006 a0004c0004t0001g0017 a0004c0004t0001g0018 a0004c0004t0001g0030 a0004c0004t0001g0067 a0004c0004t0001g0068 a0004c0004t0001g0069 a0004c0004t0001g0070 a0004c0004t0001g0073 a0004c0004t0001g0074 a0004c0004t0001g0075 a0004c0004t0001g0076 a0004c0004t0001g0077 a0004c0004t0001g0078 a0004c0004t0001g0079 a0004c0004t0001g0080 a0004c0004t0001g0085 a0004c0004t0001g0100 a0004c0004t0001g0101 a0004c0004t0001g0102 a0006c0006t0001g0011 a0006c0006t0001g0034 a0006c0006t0001g0088 a0006c0006t0001g0103 a0006c0006t0001g0104 a0006c0006t0001g0105 a0006c0006t0001g0106 a0006c0006t0001g0107 a0006c0006t0001g0108 a0006c0006t0001g0109 a0006c0006t0001g0110 a0006c0006t0001g0111 a0006c0006t0001g0112 a0006c0006t0001g0113 a0006c0006t0001g0114 a0006c0006t0001g0115 a0006c0006t0001g0116 a0006c0006t0001g0117 a0006c0006t0002g0154 a0008c0008t0001g0045 a0008c0008t0001g0180 a0008c0008t0001g0182 a0008c0008t0002g0023 a0008c0008t0002g0043 a0008c0008t0002g0044 a0008c0008t0002g0179 a0008c0008t0002g0181 a0023c0027t0001g0049 a0036c0035t0001g0147	82	442	0.1855	-3	c.810 others(10): Show c.810_812delTGG	p.Gly others(6): Show p.Gly271del	DMKN	ENSG00000161249.21	transcript	ENST00000339686.8	protein_coding	5/16	986/1924	810/1431	270/476		chr19	TogoVar
DMRTA2_chr1_50412550_50428443	50419101	CCGGCGG CCGGCGG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00438.hp1 HG00544.hp1 HG00609.hp2 others(52): Show HG00438.hp1 HG00544.hp1 HG00609.hp2 HG00621.hp1 HG00673.hp2 HG01070.hp1 HG01081.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02071.hp1 HG02129.hp2 HG02132.hp2 HG02280.hp1 HG02572.hp1 HG02630.hp2 HG02698.hp2 HG03490.hp2 HG03491.hp2 HG03704.hp1 HG03831.hp2 HG03942.hp1 NA18942.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18957.hp2 NA18964.hp1 NA18970.hp2 NA18979.hp2 NA18984.hp1 NA18989.hp2 NA18997.hp2 NA19002.hp1 NA19010.hp2 NA19043.hp1 NA19055.hp1 NA19058.hp2 NA19059.hp2 NA19060.hp2 NA19074.hp2 NA19083.hp1 NA19087.hp1 NA19240.hp2 NA20805.hp2	a0002 a0006 a0002 a0006	a0002c0002 a0006c0012 a0002c0002 a0006c0012	a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 others(1): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0006c0012t0001	a0002c0002t0001g0003 a0002c0002t0001g0006 a0002c0002t0001g0023 others(5): Show a0002c0002t0001g0003 a0002c0002t0001g0006 a0002c0002t0001g0023 a0002c0002t0001g0042 a0002c0002t0001g0044 a0002c0002t0002g0020 a0002c0002t0005g0039 a0006c0012t0001g0045	55	310	0.1774	-6	c.118 others(15): Show c.1187_1192delCCGCCG	p.Ala others(13): Show p.Ala396_Ala397del	DMRTA2	ENSG00000142700.12	transcript	ENST00000404795.4	protein_coding	3/3	1528/3080	1187/1629	396/542		chr1	TogoVar

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