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	distance	status	chr	external
MTM1_chrX_150563621_150678143	150582407	GTTAATTT others(29): Show GTTAATTTCTGTAGCCAACCTCCTGCCTATTATGGGT	G G	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	277	0.0036	-36	c.-10 others(55): Show c.-10-10196_-10-10161delTAATTTCTGTAGCCAACCTCCTGCCT ATTATGGGTT		MTM1	ENSG00000171100.16	transcript	ENST00000370396.7	protein_coding	1/14					INFO_REALIGN_3_PRIME	chrX	TogoVar
MTM1_chrX_150563621_150678143	150583602	TATATAAT others(29): Show TATATAATTTATATATATTATATATAATTTATATATA	T T	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	277	0.0036	-36	c.-10 others(53): Show c.-10-8997_-10-8962delATTTATATATATTATATATAATTTATAT ATAATATA		MTM1	ENSG00000171100.16	transcript	ENST00000370396.7	protein_coding	1/14					INFO_REALIGN_3_PRIME	chrX	TogoVar
MTMR3_chr22_29878174_30035868	29906245	CGTCTGTC others(29): Show CGTCTGTCTGTCTGTCTGTCTGTCTGTCTGTCTGTCT	C C	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0034 a0001c0006t0034	a0001c0006t0034g0295 a0001c0006t0034g0295	1	334	0.0030	-36	c.-13 others(57): Show c.-138+22895_-138+22930delGTCTGTCTGTCTGTCTGTCTGTCT GTCTGTCTGTCT		MTMR3	ENSG00000100330.16	transcript	ENST00000401950.7	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr22	TogoVar
MTO1_chr6_73456737_73514236	73461534	AAAATAAA others(29): Show AAAATAAATAAATAAATAAATAAATAAATAAATAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00597.hp2 HG00621.hp2 others(52): Show HG00438.hp2 HG00597.hp2 HG00621.hp2 HG00733.hp2 HG01070.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01928.hp2 HG01993.hp2 HG02056.hp1 HG02071.hp2 HG02080.hp2 HG02132.hp1 HG02135.hp1 HG02155.hp1 HG02293.hp2 HG02451.hp1 HG02523.hp2 HG02738.hp2 HG03239.hp1 HG03492.hp1 HG03942.hp1 NA18612.hp1 NA18941.hp1 NA18943.hp1 NA18946.hp1 NA18948.hp2 NA18951.hp2 NA18955.hp1 NA18959.hp1 NA18966.hp2 NA18978.hp2 NA18979.hp2 NA18981.hp1 NA18984.hp1 NA18987.hp2 NA19000.hp2 NA19011.hp1 NA19055.hp1 NA19057.hp2 NA19066.hp1 NA19068.hp2 NA19074.hp1 NA19081.hp2 NA19083.hp2 NA19085.hp1 NA19086.hp1 NA19087.hp2 NA19088.hp2 NA20805.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0005 a0001c0002 a0004c0005	a0001c0002t0002 a0001c0002t0011 a0001c0002t0026 others(14): Show a0001c0002t0002 a0001c0002t0011 a0001c0002t0026 a0001c0002t0038 a0001c0002t0039 a0001c0002t0110 a0001c0002t0111 a0001c0002t0112 a0001c0002t0113 a0001c0002t0114 a0001c0002t0115 a0001c0002t0116 a0001c0002t0117 a0001c0002t0118 a0001c0002t0119 a0001c0002t0120 a0004c0005t0026	a0001c0002t0002g0007 a0001c0002t0002g0025 a0001c0002t0002g0026 others(52): Show a0001c0002t0002g0007 a0001c0002t0002g0025 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0034 a0001c0002t0002g0035 a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0039 a0001c0002t0002g0041 a0001c0002t0002g0042 a0001c0002t0002g0044 a0001c0002t0002g0045 a0001c0002t0002g0047 a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0053 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0060 a0001c0002t0002g0064 a0001c0002t0002g0066 a0001c0002t0002g0069 a0001c0002t0011g0007 a0001c0002t0011g0022 a0001c0002t0011g0029 a0001c0002t0011g0031 a0001c0002t0011g0054 a0001c0002t0011g0059 a0001c0002t0011g0061 a0001c0002t0011g0068 a0001c0002t0026g0006 a0001c0002t0026g0043 a0001c0002t0038g0030 a0001c0002t0038g0032 a0001c0002t0039g0023 a0001c0002t0039g0040 a0001c0002t0110g0046 a0001c0002t0111g0062 a0001c0002t0112g0365 a0001c0002t0113g0006 a0001c0002t0114g0033 a0001c0002t0115g0024 a0001c0002t0116g0063 a0001c0002t0117g0067 a0001c0002t0118g0368 a0001c0002t0119g0070 a0001c0002t0120g0065 a0004c0005t0026g0028	55	396	0.1389	-36	c.-32 others(45): Show c.-320_-285delAAATAAATAAATAAATAAATAAATAAATAAATAAAT		MTO1	ENSG00000135297.17	transcript	ENST00000498286.6	protein_coding					202		chr6	TogoVar
MUC15_chr11_26554032_26577263	26564722	CACACACA others(29): Show CACACACACACATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18952.hp1 NA18998.hp1 others(3): Show NA18943.hp2 NA18952.hp1 NA18998.hp1 NA19000.hp1 NA19012.hp1 NA19074.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0006 a0001c0004t0002 a0001c0004t0006	a0001c0004t0002g0032 a0001c0004t0002g0220 a0001c0004t0002g0221 others(1): Show a0001c0004t0002g0032 a0001c0004t0002g0220 a0001c0004t0002g0221 a0001c0004t0006g0031	6	466	0.0129	-36	c.775 others(51): Show c.775+407_775+442delATATATATATATATATATATATATATGTGT GTGTGT		MUC15	ENSG00000169550.14	transcript	ENST00000529533.6	protein_coding	3/4						chr11	TogoVar
MUC15_chr11_26554032_26577263	26564724	CACACACA others(29): Show CACACACACATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0249 a0001c0003t0006g0249	1	466	0.0022	-36	c.775 others(51): Show c.775+405_775+440delATATATATATATATATATATATATATATGT GTGTGT		MUC15	ENSG00000169550.14	transcript	ENST00000529533.6	protein_coding	3/4						chr11	TogoVar
MUC15_chr11_26554032_26577263	26564726	CACACACA others(29): Show CACACACATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02280.hp2 HG02976.hp2 others(2): Show HG02257.hp1 HG02280.hp2 HG02976.hp2 HG03471.hp1 HG03579.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0004 a0001c0003t0009 others(1): Show a0001c0003t0002 a0001c0003t0004 a0001c0003t0009 a0001c0003t0017	a0001c0003t0002g0200 a0001c0003t0004g0184 a0001c0003t0009g0199 others(2): Show a0001c0003t0002g0200 a0001c0003t0004g0184 a0001c0003t0009g0199 a0001c0003t0009g0345 a0001c0003t0017g0169	5	466	0.0107	-36	c.775 others(51): Show c.775+403_775+438delATATATATATATATATATATATATATATAT GTGTGT		MUC15	ENSG00000169550.14	transcript	ENST00000529533.6	protein_coding	3/4						chr11	TogoVar
MUC4_chr3_195741771_195816929	195767693	CCCCAAAA others(29): Show CCCCAAAAAATACCACCATCGGCCACCACCACCATCA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp1 others(57): Show HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00733.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01123.hp2 HG01167.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG02071.hp2 HG02155.hp2 HG02273.hp2 HG02293.hp1 HG02486.hp2 HG02523.hp2 HG02602.hp2 HG02647.hp1 HG02698.hp2 HG02723.hp2 HG02895.hp1 HG03017.hp1 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03492.hp2 HG03669.hp2 HG03704.hp1 HG03831.hp1 HG03834.hp2 HG04199.hp1 HG04228.hp1 HG04228.hp2 NA18906.hp1 NA18946.hp2 NA18950.hp2 NA18955.hp1 NA18974.hp1 NA19043.hp2 NA19064.hp2 NA19066.hp1 NA19070.hp1 NA19074.hp1	a0003 a0005 a0006 others(44): Show a0003 a0005 a0006 a0007 a0012 a0013 a0015 a0016 a0017 a0027 a0028 a0029 a0030 a0031 a0032 a0033 a0034 a0035 a0036 a0037 a0038 a0039 a0040 a0041 a0044 a0045 a0046 a0052 a0056 a0064 a0065 a0067 a0084 a0085 a0086 a0090 a0094 a0103 a0108 a0128 a0150 a0162 a0175 a0176 a0177 a0180 a0181	a0003c0003 a0005c0015 a0005c0016 others(46): Show a0003c0003 a0005c0015 a0005c0016 a0006c0019 a0006c0131 a0007c0007 a0012c0020 a0013c0021 a0015c0023 a0016c0024 a0017c0018 a0027c0136 a0028c0137 a0029c0138 a0030c0135 a0031c0133 a0032c0134 a0033c0132 a0034c0152 a0035c0151 a0036c0150 a0037c0149 a0038c0163 a0039c0162 a0040c0154 a0041c0156 a0044c0153 a0045c0155 a0046c0164 a0052c0140 a0056c0142 a0064c0195 a0065c0196 a0067c0194 a0084c0187 a0085c0188 a0086c0185 a0090c0186 a0094c0178 a0103c0121 a0108c0117 a0128c0114 a0150c0093 a0162c0065 a0175c0031 a0176c0037 a0177c0035 a0180c0033 a0181c0036	a0003c0003t0002 a0005c0015t0002 a0005c0016t0002 others(46): Show a0003c0003t0002 a0005c0015t0002 a0005c0016t0002 a0006c0019t0002 a0006c0131t0002 a0007c0007t0003 a0012c0020t0002 a0013c0021t0002 a0015c0023t0003 a0016c0024t0003 a0017c0018t0010 a0027c0136t0002 a0028c0137t0002 a0029c0138t0002 a0030c0135t0002 a0031c0133t0002 a0032c0134t0002 a0033c0132t0002 a0034c0152t0014 a0035c0151t0007 a0036c0150t0007 a0037c0149t0006 a0038c0163t0002 a0039c0162t0002 a0040c0154t0006 a0041c0156t0002 a0044c0153t0001 a0045c0155t0002 a0046c0164t0002 a0052c0140t0002 a0056c0142t0007 a0064c0195t0003 a0065c0196t0003 a0067c0194t0012 a0084c0187t0003 a0085c0188t0003 a0086c0185t0003 a0090c0186t0003 a0094c0178t0004 a0103c0121t0002 a0108c0117t0001 a0128c0114t0002 a0150c0093t0001 a0162c0065t0001 a0175c0031t0001 a0176c0037t0002 a0177c0035t0002 a0180c0033t0002 a0181c0036t0002	a0003c0003t0002g0010 a0003c0003t0002g0017 a0003c0003t0002g0018 others(57): Show a0003c0003t0002g0010 a0003c0003t0002g0017 a0003c0003t0002g0018 a0003c0003t0002g0019 a0003c0003t0002g0022 a0005c0015t0002g0070 a0005c0015t0002g0085 a0005c0016t0002g0180 a0005c0016t0002g0181 a0006c0019t0002g0013 a0006c0019t0002g0021 a0006c0131t0002g0015 a0007c0007t0003g0154 a0007c0007t0003g0209 a0012c0020t0002g0011 a0012c0020t0002g0012 a0013c0021t0002g0044 a0015c0023t0003g0210 a0015c0023t0003g0212 a0016c0024t0003g0219 a0016c0024t0003g0221 a0017c0018t0010g0003 a0027c0136t0002g0026 a0028c0137t0002g0024 a0029c0138t0002g0014 a0030c0135t0002g0074 a0031c0133t0002g0009 a0032c0134t0002g0020 a0033c0132t0002g0016 a0034c0152t0014g0185 a0035c0151t0007g0186 a0036c0150t0007g0189 a0037c0149t0006g0079 a0038c0163t0002g0005 a0039c0162t0002g0166 a0040c0154t0006g0030 a0041c0156t0002g0023 a0044c0153t0001g0045 a0045c0155t0002g0025 a0046c0164t0002g0046 a0052c0140t0002g0062 a0056c0142t0007g0006 a0064c0195t0003g0207 a0065c0196t0003g0208 a0067c0194t0012g0239 a0084c0187t0003g0216 a0085c0188t0003g0218 a0086c0185t0003g0217 a0090c0186t0003g0220 a0094c0178t0004g0235 a0103c0121t0002g0140 a0108c0117t0001g0165 a0128c0114t0002g0084 a0150c0093t0001g0119 a0162c0065t0001g0056 a0175c0031t0001g0190 a0176c0037t0002g0197 a0177c0035t0002g0196 a0180c0033t0002g0195 a0181c0036t0002g0191	60	249	0.2410	-36	c.135 others(55): Show c.13530-978_13530-943delTGATGGTGGTGGTGGCCGATGGTGGT ATTTTTTGGG		MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	7/24						chr3	TogoVar
MUC5AC_chr11_1152953_1206138	1159884	GGGGCTGG others(29): Show GGGGCTGGGGCTGGTCCCACCATGCTGGCTCTGCGAC	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0213 a0004c0003t0001g0213	1	292	0.0034	-36	c.74- others(49): Show c.74-721_74-686delGGGCTGGTCCCACCATGCTGGCTCTGCGACGG GCTG		MUC5AC	ENSG00000215182.8	transcript	ENST00000621226.2	protein_coding	1/48					INFO_REALIGN_3_PRIME	chr11	TogoVar
MUC5AC_chr11_1152953_1206138	1170568	CTCACCCA others(29): Show CTCACCCACTCACCTACTCACTCACTCACTCACCCAT	C C	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0022 a0022	a0022c0061 a0022c0061	a0022c0061t0001 a0022c0061t0001	a0022c0061t0001g0041 a0022c0061t0001g0041	1	292	0.0034	-36	c.187 others(55): Show c.1870+1567_1870+1602delTCACTCACCCATTCACCCACTCACCT ACTCACTCAC		MUC5AC	ENSG00000215182.8	transcript	ENST00000621226.2	protein_coding	15/48					INFO_REALIGN_3_PRIME	chr11	TogoVar
MUC5AC_chr11_1152953_1206138	1178317	ACCTGGGT others(29): Show ACCTGGGTGGGAGGAGGCGGCCGCAGGGCAGGGTGGC	A A	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01261.hp1 HG03491.hp1 HG01255.hp2 HG01261.hp1 HG03491.hp1	a0014 a0014	a0014c0031 a0014c0077 a0014c0031 a0014c0077	a0014c0031t0001 a0014c0077t0001 a0014c0031t0001 a0014c0077t0001	a0014c0031t0001g0055 a0014c0031t0001g0075 a0014c0077t0001g0049 a0014c0031t0001g0055 a0014c0031t0001g0075 a0014c0077t0001g0049	3	292	0.0103	-36	c.308 others(52): Show c.3088-105_3088-70delGCAGGGCAGGGTGGCCCTGGGTGGGAGGA GGCGGCC		MUC5AC	ENSG00000215182.8	transcript	ENST00000621226.2	protein_coding	24/48					INFO_REALIGN_3_PRIME	chr11	TogoVar
MUC5B_chr11_1218066_1267172	1219473	CCTGGGGC others(29): Show CCTGGGGCCCGGCTCAGTGCCTGGTGGCTGATGGACA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0085 a0085	a0085c0122 a0085c0122	a0085c0122t0001 a0085c0122t0001	a0085c0122t0001g0007 a0085c0122t0001g0007	1	350	0.0029	-36	c.-36 others(47): Show c.-3650_-3615delCTGGGGCCCGGCTCAGTGCCTGGTGGCTGATGGA CA		MUC5B	ENSG00000117983.17	transcript	ENST00000529681.5	protein_coding					3592		chr11	TogoVar
MYADM_chr19_53862883_53881435	53870069	GAGGAGGG others(29): Show GAGGAGGGGCTGGGGTCTGGACTCCTGGGTCCGAGGA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01346.hp1 HG01433.hp1 others(27): Show HG01109.hp2 HG01346.hp1 HG01433.hp1 HG02109.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02622.hp2 HG02698.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02970.hp2 HG03041.hp1 HG03130.hp1 HG03139.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG06807.hp2 NA19030.hp2 NA19043.hp2 NA19240.hp1 NA19240.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0011 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0039 a0001c0001t0047 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055	a0001c0001t0001g0006 a0001c0001t0002g0011 a0001c0001t0003g0071 others(16): Show a0001c0001t0001g0006 a0001c0001t0002g0011 a0001c0001t0003g0071 a0001c0001t0004g0006 a0001c0001t0010g0022 a0001c0001t0011g0012 a0001c0001t0011g0064 a0001c0001t0018g0011 a0001c0001t0018g0031 a0001c0001t0020g0006 a0001c0001t0021g0021 a0001c0001t0039g0006 a0001c0001t0047g0012 a0001c0001t0050g0012 a0001c0001t0051g0021 a0001c0001t0052g0067 a0001c0001t0053g0011 a0001c0001t0054g0011 a0001c0001t0055g0030	30	378	0.0794	-36	c.-3+ others(49): Show c.-3+282_-3+317delTCTGGACTCCTGGGTCCGAGGAAGGAGGGGCT GGGG		MYADM	ENSG00000179820.16	transcript	ENST00000391770.9	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr19	TogoVar
MYBPH_chr1_203162811_203180826	203167154	TGGGGGAG others(29): Show TGGGGGAGCCTGGAGCCCCTGTGTGGGAGGGCGAGGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG03098.hp1 others(1): Show HG02895.hp2 HG02897.hp2 HG03098.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	4	464	0.0086	-36	c.93 others(45): Show c.934_*969delGCCTCGCCCTCCCACACAGGGGCTCCAGGCTCCCCC		MYBPH	ENSG00000133055.10	transcript	ENST00000255416.9	protein_coding					656		chr1	TogoVar
MYBPH_chr1_203162811_203180826	203167197	GCCTGGAG others(29): Show GCCTGGAGCCCCTGTGTGGGAGGGCGAGGCGGGGGAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp2 HG04228.hp1 HG03688.hp2 HG04228.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0021 a0003c0005t0001g0021	2	464	0.0043	-36	c.89 others(45): Show c.891_*926delATCCCCCGCCTCGCCCTCCCACACAGGGGCTCCAGG		MYBPH	ENSG00000133055.10	transcript	ENST00000255416.9	protein_coding					613		chr1	TogoVar
MYDGF_chr19_4652545_4675342	4672032	TATATATT others(29): Show TATATATTCATATATTCACATATGTGAATATATATTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp2 HG03688.hp1 HG02698.hp2 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0163 a0001c0001t0001g0158 a0001c0001t0001g0163	2	410	0.0049	-36	c.-17 others(47): Show c.-1734_-1699delGAATATATATTCACATATGTGAATATATGAATAT AT		MYDGF	ENSG00000074842.8	transcript	ENST00000262947.8	protein_coding					1691		chr19	TogoVar
MYDGF_chr19_4652545_4675342	4672094	CATATATT others(29): Show CATATATTCATATATACTTATATATTCATATATATGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0082 a0002c0002t0002g0082	1	410	0.0024	-36	c.-17 others(47): Show c.-1796_-1761delTCATATATATGAATATATAAGTATATATGAATAT AT		MYDGF	ENSG00000074842.8	transcript	ENST00000262947.8	protein_coding					1753		chr19	TogoVar
MYDGF_chr19_4652545_4675342	4674745	TCCCTGCT others(29): Show TCCCTGCTGTTAGAAATGGAGCCCACATGCCCCGCAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0109 a0002c0002t0002g0109	1	410	0.0024	-36	c.-44 others(47): Show c.-4447_-4412delGTGCGGGGCATGTGGGCTCCATTTCTAACAGCAG GG		MYDGF	ENSG00000074842.8	transcript	ENST00000262947.8	protein_coding					4404		chr19	TogoVar
MYH15_chr3_108375368_108515596	108507226	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00639.hp1 others(36): Show HG00099.hp1 HG00280.hp1 HG00639.hp1 HG00733.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01192.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG02145.hp1 HG02258.hp1 HG02451.hp2 HG02486.hp1 HG02622.hp2 HG02723.hp1 HG02809.hp1 HG03017.hp2 HG03098.hp1 HG03239.hp1 HG03540.hp1 HG04199.hp1 HG04228.hp1 NA19240.hp2 NA20752.hp2	a0004 a0004	a0004c0004 a0004c0027 a0004c0028 others(1): Show a0004c0004 a0004c0027 a0004c0028 a0004c0029	a0004c0004t0001 a0004c0004t0002 a0004c0004t0003 others(8): Show a0004c0004t0001 a0004c0004t0002 a0004c0004t0003 a0004c0004t0004 a0004c0004t0006 a0004c0004t0009 a0004c0004t0010 a0004c0004t0014 a0004c0027t0004 a0004c0028t0002 a0004c0029t0002	a0004c0004t0001g0089 a0004c0004t0002g0186 a0004c0004t0002g0187 others(36): Show a0004c0004t0001g0089 a0004c0004t0002g0186 a0004c0004t0002g0187 a0004c0004t0002g0188 a0004c0004t0002g0191 a0004c0004t0002g0193 a0004c0004t0002g0196 a0004c0004t0002g0199 a0004c0004t0002g0203 a0004c0004t0002g0204 a0004c0004t0002g0205 a0004c0004t0002g0206 a0004c0004t0002g0208 a0004c0004t0002g0210 a0004c0004t0002g0211 a0004c0004t0002g0212 a0004c0004t0002g0213 a0004c0004t0003g0017 a0004c0004t0004g0180 a0004c0004t0004g0181 a0004c0004t0004g0182 a0004c0004t0004g0184 a0004c0004t0004g0185 a0004c0004t0004g0189 a0004c0004t0004g0194 a0004c0004t0004g0195 a0004c0004t0004g0197 a0004c0004t0004g0200 a0004c0004t0004g0202 a0004c0004t0004g0209 a0004c0004t0004g0214 a0004c0004t0006g0008 a0004c0004t0006g0010 a0004c0004t0009g0183 a0004c0004t0010g0009 a0004c0004t0014g0201 a0004c0027t0004g0190 a0004c0028t0002g0192 a0004c0029t0002g0198	39	306	0.1275	-36	c.89- others(51): Show c.89-1433_89-1398delATATATATATATATATATATATATATATAT ATATAT		MYH15	ENSG00000144821.11	transcript	ENST00000693548.1	protein_coding	1/40						chr3	TogoVar
MYH6_chr14_23376987_23413273	23397929	CTCCTCTT others(29): Show CTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0029 a0002c0006t0002g0029	1	370	0.0027	-36	c.189 others(53): Show c.1892-352_1892-317delAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAGGA		MYH6	ENSG00000197616.13	transcript	ENST00000405093.9	protein_coding	15/38						chr14	TogoVar
MYL9_chr20_36536519_36556447	36548442	TCCAGAAA others(29): Show TCCAGAAATCAAACCATTTCATGCCTTTCTTGCCAAG	T T	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	404	0.0025	-36	c.346 others(51): Show c.346+250_346+285delCCAGAAATCAAACCATTTCATGCCTTTCTT GCCAAG		MYL9	ENSG00000101335.10	transcript	ENST00000279022.7	protein_coding	3/3						chr20	TogoVar
MYO18B_chr22_25737188_26036045	26033805	CTTTCTTT others(29): Show CTTTCTTTTTCTCTTCCTCCCTTCCTTCTTTCTTTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01167.hp1 others(49): Show HG01070.hp2 HG01071.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp2 HG03195.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19240.hp2 NA20300.hp1 NA21309.hp1 NA21309.hp2	a0004 a0006 a0008 others(29): Show a0004 a0006 a0008 a0009 a0012 a0014 a0021 a0025 a0026 a0027 a0028 a0029 a0030 a0031 a0032 a0033 a0034 a0049 a0051 a0054 a0055 a0057 a0058 a0061 a0063 a0064 a0065 a0068 a0072 a0074 a0077 a0079	a0004c0007 a0004c0041 a0004c0073 others(43): Show a0004c0007 a0004c0041 a0004c0073 a0004c0079 a0004c0090 a0006c0017 a0006c0027 a0006c0049 a0006c0061 a0006c0095 a0008c0016 a0008c0083 a0009c0018 a0009c0044 a0009c0058 a0009c0060 a0009c0094 a0012c0138 a0014c0063 a0021c0037 a0025c0024 a0026c0075 a0026c0091 a0027c0070 a0028c0051 a0029c0054 a0030c0028 a0031c0104 a0032c0032 a0033c0130 a0034c0124 a0049c0065 a0051c0064 a0054c0123 a0055c0057 a0057c0043 a0058c0080 a0061c0089 a0063c0055 a0064c0050 a0065c0081 a0068c0098 a0072c0102 a0074c0129 a0077c0125 a0079c0154	a0004c0007t0001 a0004c0041t0001 a0004c0073t0001 others(45): Show a0004c0007t0001 a0004c0041t0001 a0004c0073t0001 a0004c0079t0002 a0004c0090t0001 a0006c0017t0001 a0006c0017t0002 a0006c0027t0002 a0006c0049t0001 a0006c0061t0002 a0006c0095t0002 a0008c0016t0001 a0008c0083t0001 a0009c0018t0002 a0009c0018t0008 a0009c0044t0002 a0009c0058t0002 a0009c0060t0002 a0009c0094t0002 a0012c0138t0001 a0014c0063t0002 a0021c0037t0001 a0025c0024t0002 a0026c0075t0002 a0026c0091t0002 a0027c0070t0002 a0028c0051t0001 a0029c0054t0002 a0030c0028t0001 a0031c0104t0002 a0032c0032t0002 a0033c0130t0002 a0034c0124t0002 a0049c0065t0001 a0051c0064t0001 a0054c0123t0001 a0055c0057t0002 a0057c0043t0002 a0058c0080t0001 a0061c0089t0002 a0063c0055t0002 a0064c0050t0002 a0065c0081t0002 a0068c0098t0001 a0072c0102t0002 a0074c0129t0002 a0077c0125t0001 a0079c0154t0001	a0004c0007t0001g0124 a0004c0041t0001g0064 a0004c0073t0001g0226 others(49): Show a0004c0007t0001g0124 a0004c0041t0001g0064 a0004c0073t0001g0226 a0004c0079t0002g0103 a0004c0090t0001g0018 a0006c0017t0001g0043 a0006c0017t0002g0076 a0006c0027t0002g0079 a0006c0027t0002g0104 a0006c0049t0001g0010 a0006c0061t0002g0074 a0006c0095t0002g0087 a0008c0016t0001g0012 a0008c0083t0001g0088 a0009c0018t0002g0011 a0009c0018t0008g0114 a0009c0044t0002g0072 a0009c0058t0002g0111 a0009c0060t0002g0065 a0009c0094t0002g0120 a0012c0138t0001g0013 a0014c0063t0002g0221 a0021c0037t0001g0121 a0021c0037t0001g0122 a0025c0024t0002g0094 a0025c0024t0002g0097 a0026c0075t0002g0105 a0026c0091t0002g0082 a0027c0070t0002g0225 a0028c0051t0001g0071 a0029c0054t0002g0080 a0030c0028t0001g0107 a0031c0104t0002g0096 a0032c0032t0002g0007 a0032c0032t0002g0008 a0033c0130t0002g0030 a0034c0124t0002g0015 a0049c0065t0001g0110 a0051c0064t0001g0091 a0054c0123t0001g0073 a0055c0057t0002g0077 a0057c0043t0002g0044 a0058c0080t0001g0109 a0061c0089t0002g0224 a0063c0055t0002g0223 a0064c0050t0002g0081 a0065c0081t0002g0016 a0068c0098t0001g0005 a0072c0102t0002g0092 a0074c0129t0002g0028 a0077c0125t0001g0014 a0079c0154t0001g0033	52	228	0.2281	-36	c.33 others(47): Show c.3376_*3411delTTTCTTTTTCTCTTCCTCCCTTCCTTCTTTCTTT CT		MYO18B	ENSG00000133454.16	transcript	ENST00000335473.12	protein_coding					2761		chr22	TogoVar
MYO1D_chr17_32487522_32882124	32560528	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0232 a0001c0001t0004g0232	1	244	0.0041	-36	c.286 others(57): Show c.2864+44523_2864+44558delATATATATATATATATATATATAT ATATATATATAT		MYO1D	ENSG00000176658.17	transcript	ENST00000318217.10	protein_coding	21/21						chr17	TogoVar
MYO1E_chr15_59127434_59377871	59282881	GGGAGGGG others(29): Show GGGAGGGGAGGGGGGAGGGGGGGAGGGGGGAGGGGGA	G G	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0030 a0001c0004t0030	a0001c0004t0030g0010 a0001c0004t0030g0010	1	226	0.0044	-36	c.4-1 others(51): Show c.4-10468_4-10433delTCCCCCTCCCCCCTCCCCCCCTCCCCCCTC CCCTCC		MYO1E	ENSG00000157483.9	transcript	ENST00000288235.9	protein_coding	1/27						chr15	TogoVar
MYO1F_chr19_8515778_8582442	8574553	TTCTTTCT others(29): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA18950.hp1 HG03195.hp2 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0020 a0001c0001 a0001c0020	a0001c0001t0001 a0001c0020t0002 a0001c0001t0001 a0001c0020t0002	a0001c0001t0001g0128 a0001c0020t0002g0127 a0001c0001t0001g0128 a0001c0020t0002g0127	2	342	0.0059	-36	c.3+2 others(49): Show c.3+2718_3+2753delGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGA AAGA		MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	1/27						chr19	TogoVar
MYO7A_chr11_77123246_77220241	77171599	AAATACCT others(29): Show AAATACCTCACATATCTACATCTACACCCCTGGTTTT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0008 a0008	a0008c0100 a0008c0100	a0008c0100t0002 a0008c0100t0002	a0008c0100t0002g0225 a0008c0100t0002g0225	1	356	0.0028	-36	c.179 others(55): Show c.1798-1148_1798-1113delAATACCTCACATATCTACATCTACAC CCCTGGTTTT		MYO7A	ENSG00000137474.23	transcript	ENST00000409709.9	protein_coding	15/48						chr11	TogoVar
MYO9A_chr15_71817291_72123150	72090974	CAAAAAAA others(29): Show CAAAAAAAAAATAAATAAATAAAAAATAAAAAAATAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	308	0.0033	-36	c.-72 others(55): Show c.-72+26670_-72+26705delTTATTTTTTTATTTTTTATTTATTTA TTTTTTTTTT		MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	1/41						chr15	TogoVar
MYOF_chr10_93301429_93487334	93482845	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0008 a0001c0009t0001g0008	1	240	0.0042	-36	c.-68 others(45): Show c.-687_-652delTATATATATATATATATATATATATATATATATATA		MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding					512		chr10	TogoVar
MYOM1_chr18_3061807_3224968	3159874	TTTCCTTC others(29): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02486.hp1 NA21309.hp2 HG02280.hp1 HG02486.hp1 NA21309.hp2	a0004 a0033 a0054 a0004 a0033 a0054	a0004c0110 a0033c0071 a0054c0165 a0004c0110 a0033c0071 a0054c0165	a0004c0110t0001 a0033c0071t0003 a0054c0165t0003 a0004c0110t0001 a0033c0071t0003 a0054c0165t0003	a0004c0110t0001g0001 a0033c0071t0003g0172 a0054c0165t0003g0220 a0004c0110t0001g0001 a0033c0071t0003g0172 a0054c0165t0003g0220	3	330	0.0091	-36	c.150 others(55): Show c.1501+4368_1501+4403delGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAA		MYOM1	ENSG00000101605.14	transcript	ENST00000356443.9	protein_coding	10/37						chr18	TogoVar
MYOM1_chr18_3061807_3224968	3188915	ACTGCTTG others(29): Show ACTGCTTGGATGCCGTGGACTGCTTAGATGCCGTGGT	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01081.hp2 HG01167.hp1 HG01081.hp2 HG01167.hp1	a0018 a0018	a0018c0053 a0018c0053	a0018c0053t0001 a0018c0053t0001	a0018c0053t0001g0136 a0018c0053t0001g0137 a0018c0053t0001g0136 a0018c0053t0001g0137	2	330	0.0061	-36	c.568 others(43): Show c.568_603delACCACGGCATCTAAGCAGTCCACGGCATCCAAGCAG	p.Thr others(13): Show p.Thr190_Gln201del	MYOM1	ENSG00000101605.14	transcript	ENST00000356443.9	protein_coding	4/38	797/5707	568/5058	190/1685			chr18	TogoVar
MYOM2_chr8_2040046_2150456	2041511	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG02135.hp1 NA18959.hp2 others(7): Show HG01069.hp1 HG02135.hp1 NA18959.hp2 NA18960.hp2 NA18963.hp1 NA19000.hp2 NA19007.hp1 NA19063.hp2 NA19079.hp2 NA19082.hp2	a0001 a0003 a0005 others(5): Show a0001 a0003 a0005 a0007 a0008 a0009 a0031 a0088	a0001c0002 a0003c0001 a0003c0164 others(6): Show a0001c0002 a0003c0001 a0003c0164 a0005c0146 a0007c0010 a0008c0008 a0009c0012 a0031c0050 a0088c0172	a0001c0002t0001 a0001c0002t0003 a0003c0001t0002 others(7): Show a0001c0002t0001 a0001c0002t0003 a0003c0001t0002 a0003c0164t0001 a0005c0146t0004 a0007c0010t0001 a0008c0008t0001 a0009c0012t0001 a0031c0050t0001 a0088c0172t0001	a0001c0002t0001g0097 a0001c0002t0003g0096 a0003c0001t0002g0098 others(7): Show a0001c0002t0001g0097 a0001c0002t0003g0096 a0003c0001t0002g0098 a0003c0164t0001g0101 a0005c0146t0004g0105 a0007c0010t0001g0100 a0008c0008t0001g0104 a0009c0012t0001g0049 a0031c0050t0001g0103 a0088c0172t0001g0033	10	403	0.0248	-36	c.-36 others(47): Show c.-3669_-3634delATATATATATATATATATATATATATATATATAT AT		MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding					3534		chr8	TogoVar
MYRFL_chr12_69820227_69964097	69891601	CTTTCTCT others(29): Show CTTTCTCTTTCTTTCTTTCTTTCCTCCTTCCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0128 a0001c0003t0001g0128	1	322	0.0031	-36	c.903 others(51): Show c.903+441_903+476delCTTTCTTTCTTTCTTTCCTCCTTCCTTTCT TTTTCT		MYRFL	ENSG00000166268.11	transcript	ENST00000552032.7	protein_coding	7/24					INFO_REALIGN_3_PRIME	chr12	TogoVar
MYSM1_chr1_58649743_58705062	58651323	GTGAAGCT others(29): Show GTGAAGCTGCCCATTTTGGATTTGTCTAATCCAAGAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0048 a0009c0012t0048	a0009c0012t0048g0168 a0009c0012t0048g0168	1	410	0.0024	-36	c.86 others(47): Show c.8638_*8673delATCTTGGATTAGACAAATCCAAAATGGGCAGCTT CA		MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding					3419		chr1	TogoVar
MYT1L_chr2_1784113_2336275	1850182	CCCTTCCT others(29): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02257.hp2 HG02559.hp2 others(3): Show HG00280.hp1 HG02257.hp2 HG02559.hp2 HG02647.hp2 HG02818.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0012 a0001c0025	a0001c0001t0004 a0001c0003t0017 a0001c0004t0013 others(3): Show a0001c0001t0004 a0001c0003t0017 a0001c0004t0013 a0001c0005t0012 a0001c0012t0004 a0001c0025t0005	a0001c0001t0004g0010 a0001c0003t0017g0014 a0001c0004t0013g0033 others(3): Show a0001c0001t0004g0010 a0001c0003t0017g0014 a0001c0004t0013g0033 a0001c0005t0012g0092 a0001c0012t0004g0005 a0001c0025t0005g0019	6	104	0.0577	-36	c.277 others(55): Show c.2774+1423_2774+1458delAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGG		MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	19/24						chr2	TogoVar
MYT1L_chr2_1784113_2336275	1866782	GGAGGGGG others(29): Show GGAGGGGGAGAGAGAGAGGCAGAGAAGGGGGGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02559.hp1 HG00140.hp1 HG02559.hp1	a0001 a0001	a0001c0014 a0001c0024 a0001c0014 a0001c0024	a0001c0014t0002 a0001c0024t0020 a0001c0014t0002 a0001c0024t0020	a0001c0014t0002g0070 a0001c0024t0020g0064 a0001c0014t0002g0070 a0001c0024t0020g0064	2	104	0.0192	-36	c.271 others(57): Show c.2712-15115_2712-15080delTCTCTCCCCCCTTCTCTGCCTCTC TCTCTCCCCCTC		MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	18/24						chr2	TogoVar
MYT1L_chr2_1784113_2336275	2236757	TTTCTTCT others(29): Show TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02698.hp2 HG02717.hp1 others(8): Show HG02280.hp1 HG02698.hp2 HG02717.hp1 HG02897.hp2 HG02922.hp2 HG03195.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG06807.hp2 NA18971.hp2	a0001 a0001	a0001c0004 a0001c0005 a0001c0006 others(4): Show a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0013 a0001c0018 a0001c0019	a0001c0004t0001 a0001c0004t0009 a0001c0004t0013 others(8): Show a0001c0004t0001 a0001c0004t0009 a0001c0004t0013 a0001c0005t0002 a0001c0005t0011 a0001c0006t0001 a0001c0008t0001 a0001c0008t0005 a0001c0013t0001 a0001c0018t0002 a0001c0019t0002	a0001c0004t0001g0087 a0001c0004t0009g0001 a0001c0004t0013g0044 others(8): Show a0001c0004t0001g0087 a0001c0004t0009g0001 a0001c0004t0013g0044 a0001c0005t0002g0076 a0001c0005t0011g0074 a0001c0006t0001g0083 a0001c0008t0001g0036 a0001c0008t0005g0101 a0001c0013t0001g0038 a0001c0018t0002g0085 a0001c0019t0002g0061	11	104	0.1058	-36	c.-42 others(57): Show c.-421+47611_-421+47646delGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAA		MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	2/24						chr2	TogoVar
MYT1L_chr2_1784113_2336275	2236781	CTTCTTCT others(29): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00438.hp2 others(49): Show HG00140.hp1 HG00280.hp2 HG00438.hp2 HG00544.hp1 HG00673.hp1 HG01109.hp1 HG01109.hp2 HG02083.hp1 HG02083.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02572.hp1 HG02615.hp1 HG02717.hp2 HG02735.hp1 HG02886.hp1 HG02897.hp1 HG03041.hp2 HG03098.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03831.hp1 HG03834.hp1 HG03942.hp2 HG04204.hp1 NA18945.hp1 NA18945.hp2 NA18969.hp1 NA18971.hp1 NA18990.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19012.hp1 NA19012.hp2 NA19055.hp2 NA19060.hp1 NA19065.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(16): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0012 a0001c0013 a0001c0014 a0001c0016 a0001c0017 a0001c0021 a0001c0022 a0001c0025 a0002c0011 a0003c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(35): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0023 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0025 a0001c0004t0001 a0001c0004t0004 a0001c0004t0005 a0001c0004t0012 a0001c0005t0001 a0001c0005t0002 a0001c0005t0005 a0001c0006t0001 a0001c0006t0003 a0001c0006t0007 a0001c0007t0004 a0001c0007t0018 a0001c0008t0001 a0001c0008t0002 a0001c0009t0008 a0001c0012t0014 a0001c0013t0019 a0001c0014t0002 a0001c0016t0002 a0001c0017t0005 a0001c0021t0002 a0001c0022t0016 a0001c0025t0005 a0002c0011t0001 a0003c0010t0003	a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0049 others(49): Show a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0002g0090 a0001c0001t0007g0029 a0001c0001t0008g0009 a0001c0002t0001g0071 a0001c0002t0001g0089 a0001c0002t0002g0020 a0001c0002t0002g0031 a0001c0002t0002g0045 a0001c0002t0002g0048 a0001c0002t0003g0042 a0001c0002t0004g0003 a0001c0002t0023g0051 a0001c0003t0001g0021 a0001c0003t0001g0100 a0001c0003t0002g0017 a0001c0003t0003g0059 a0001c0003t0003g0077 a0001c0003t0025g0055 a0001c0004t0001g0040 a0001c0004t0001g0084 a0001c0004t0004g0002 a0001c0004t0005g0073 a0001c0004t0012g0066 a0001c0005t0001g0086 a0001c0005t0002g0099 a0001c0005t0005g0088 a0001c0006t0001g0018 a0001c0006t0003g0027 a0001c0006t0003g0028 a0001c0006t0007g0098 a0001c0007t0004g0006 a0001c0007t0018g0068 a0001c0008t0001g0091 a0001c0008t0002g0093 a0001c0009t0008g0007 a0001c0012t0014g0004 a0001c0013t0019g0065 a0001c0014t0002g0070 a0001c0016t0002g0016 a0001c0017t0005g0097 a0001c0021t0002g0026 a0001c0022t0016g0012 a0001c0025t0005g0019 a0002c0011t0001g0043 a0002c0011t0001g0078 a0003c0010t0003g0039	52	104	0.5000	-36	c.-42 others(57): Show c.-421+47587_-421+47622delAAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAA		MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	2/24						chr2	TogoVar
N4BP3_chr5_178108532_178131081	178113321	GAGCCGGG others(29): Show GAGCCGGGGCGCTCAAGGAGGCAGCGACGCGAGGCGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18978.hp2 NA18984.hp1 NA19087.hp1 NA18978.hp2 NA18984.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	3	436	0.0069	-36	c.-48 others(45): Show c.-480_-445delAGCCGGGGCGCTCAAGGAGGCAGCGACGCGAGGCGC		N4BP3	ENSG00000145911.6	transcript	ENST00000274605.6	protein_coding					210		chr5	TogoVar
NAALADL2_chr3_174854334_175815548	175199838	ATATATAT others(29): Show ATATATATATATATATATATATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA18522.hp1 HG03579.hp2 NA18522.hp1	a0004 a0004	a0004c0002 a0004c0008 a0004c0002 a0004c0008	a0004c0002t0006 a0004c0008t0027 a0004c0002t0006 a0004c0008t0027	a0004c0002t0006g0039 a0004c0008t0027g0051 a0004c0002t0006g0039 a0004c0008t0027g0051	2	64	0.0313	-36	c.546 others(55): Show c.546-34091_546-34056delATATATATATATATATATATATATAT TTTTTTTTTT		NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175667231	GAAAGAAA others(29): Show GAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGGA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03579.hp1 NA18522.hp2 HG02109.hp2 HG03579.hp1 NA18522.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0012 a0001c0001 a0007c0012	a0001c0001t0002 a0001c0001t0031 a0007c0012t0029 a0001c0001t0002 a0001c0001t0031 a0007c0012t0029	a0001c0001t0002g0032 a0001c0001t0031g0026 a0007c0012t0029g0024 a0001c0001t0002g0032 a0001c0001t0031g0026 a0007c0012t0029g0024	3	64	0.0469	-36	c.189 others(57): Show c.1896+39847_1896+39882delAAGAAAGAAAAAGAAAGAAAGAAA GAAAGAAAGGAA		NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	11/13					INFO_REALIGN_3_PRIME	chr3	TogoVar
NAB1_chr2_190644083_190697766	190661428	ATTTTAGT others(29): Show ATTTTAGTTTCATGCTTTAACCTAGTTTTCTTATAAT	A A	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0259 a0001c0001t0024g0259	1	374	0.0027	-36	c.819 others(53): Show c.819+1439_819+1474delGTTTCATGCTTTAACCTAGTTTTCTTAT AATTTTTA		NAB1	ENSG00000138386.17	transcript	ENST00000337386.10	protein_coding	4/9					INFO_REALIGN_3_PRIME	chr2	TogoVar
NADSYN1_chr11_71448203_71506816	71482609	TCACACGG others(29): Show TCACACGGGCACCTGGGGGTGTAGACCGGGGTGGAGC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00609.hp1 HG00642.hp1 others(42): Show HG00280.hp1 HG00609.hp1 HG00642.hp1 HG00733.hp1 HG01074.hp2 HG01884.hp2 HG01891.hp2 HG02055.hp1 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02572.hp1 HG02630.hp2 HG02683.hp2 HG02717.hp2 HG02735.hp1 HG02818.hp2 HG02965.hp2 HG03130.hp2 HG03139.hp1 HG03225.hp2 HG03471.hp2 HG03490.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03704.hp2 HG04199.hp2 NA18612.hp1 NA18944.hp2 NA18950.hp2 NA18959.hp2 NA18967.hp1 NA18970.hp2 NA18972.hp2 NA18987.hp2 NA18991.hp1 NA19002.hp1 NA19004.hp2 NA19005.hp1 NA19011.hp1 NA19043.hp2 NA19056.hp1 NA19079.hp1	a0001 a0003 a0011 a0001 a0003 a0011	a0001c0006 a0003c0004 a0003c0009 others(1): Show a0001c0006 a0003c0004 a0003c0009 a0011c0022	a0001c0006t0001 a0003c0004t0001 a0003c0004t0002 others(2): Show a0001c0006t0001 a0003c0004t0001 a0003c0004t0002 a0003c0009t0001 a0011c0022t0001	a0001c0006t0001g0019 a0001c0006t0001g0020 a0001c0006t0001g0021 others(33): Show a0001c0006t0001g0019 a0001c0006t0001g0020 a0001c0006t0001g0021 a0001c0006t0001g0110 a0001c0006t0001g0111 a0003c0004t0001g0012 a0003c0004t0001g0013 a0003c0004t0001g0037 a0003c0004t0001g0109 a0003c0004t0001g0171 a0003c0004t0001g0218 a0003c0004t0001g0226 a0003c0004t0001g0227 a0003c0004t0001g0229 a0003c0004t0001g0230 a0003c0004t0001g0231 a0003c0004t0001g0232 a0003c0004t0001g0233 a0003c0004t0001g0234 a0003c0004t0001g0253 a0003c0004t0001g0254 a0003c0004t0001g0255 a0003c0004t0002g0036 a0003c0004t0002g0185 a0003c0004t0002g0186 a0003c0004t0002g0216 a0003c0004t0002g0221 a0003c0004t0002g0222 a0003c0004t0002g0223 a0003c0004t0002g0224 a0003c0004t0002g0225 a0003c0004t0002g0228 a0003c0009t0001g0164 a0003c0009t0001g0165 a0003c0009t0001g0166 a0011c0022t0001g0219	45	354	0.1271	-36	c.115 others(53): Show c.1151-238_1151-203delACACGGGCACCTGGGGGTGTAGACCGGG GTGGAGCC		NADSYN1	ENSG00000172890.13	transcript	ENST00000319023.7	protein_coding	13/20					INFO_REALIGN_3_PRIME	chr11	TogoVar
NADSYN1_chr11_71448203_71506816	71482671	TGGGGTGG others(29): Show TGGGGTGGAGCCGCACAGGCACCTGGGGGTGTAGACC	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0220 a0003c0004t0001g0220	1	354	0.0028	-36	c.115 others(52): Show c.1151-127_1151-92delCAGGCACCTGGGGGTGTAGACCGGGGTGG AGCCGCA		NADSYN1	ENSG00000172890.13	transcript	ENST00000319023.7	protein_coding	13/20					INFO_REALIGN_3_PRIME	chr11	TogoVar
NANOG_chr12_7784402_7804146	7795824	AGCTGTAA others(29): Show AGCTGTAACATACTTAATTGATTTCTTACCGTTTTTG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0037 a0001c0001t0055g0037	1	434	0.0023	-36	c.73 others(45): Show c.733_*768delGTAACATACTTAATTGATTTCTTACCGTTTTTGGCT		NANOG	ENSG00000111704.11	transcript	ENST00000229307.9	protein_coding	4/4				733	INFO_REALIGN_3_PRIME	chr12	TogoVar
NANOS1_chr10_119024714_119038730	119028622	AGAAGGAA others(29): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	404	0.0025	-36	c.-11 others(47): Show c.-1179_-1144delGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AG		NANOS1	ENSG00000188613.7	transcript	ENST00000425699.3	protein_coding					1091		chr10	TogoVar
NAV1_chr1_201534127_201831969	201690190	GCTATTTC others(29): Show GCTATTTCCTCTCTGGCCTGTCCGTGGCAGAGTATGT	G G	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0096 a0001c0001t0050g0096	1	210	0.0048	-36	c.161 others(57): Show c.1619-22569_1619-22534delCGTGGCAGAGTATGTCTATTTCCT CTCTGGCCTGTC		NAV1	ENSG00000134369.16	transcript	ENST00000685211.1	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr1	TogoVar
NAV1_chr1_201534127_201831969	201690407	GCTATTTC others(29): Show GCTATTTCCTCTCTGGCCTGTCCGTGGCAGAGTATGT	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA19240.hp1 HG02145.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0030 a0001c0001t0001 a0001c0001t0030	a0001c0001t0001g0124 a0001c0001t0030g0126 a0001c0001t0001g0124 a0001c0001t0030g0126	2	210	0.0095	-36	c.161 others(57): Show c.1619-22352_1619-22317delCGTGGCAGAGTATGTCTATTTCCT CTCTGGCCTGTC		NAV1	ENSG00000134369.16	transcript	ENST00000685211.1	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr1	TogoVar
NAV1_chr1_201534127_201831969	201756794	CTCTTTCT others(29): Show CTCTTTCTTTCTTTCCTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02165.hp2 HG02630.hp2 others(4): Show HG01069.hp1 HG02165.hp2 HG02630.hp2 HG02809.hp1 HG03486.hp2 HG03579.hp1 NA18994.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0023 a0003c0004 a0001c0001 a0001c0023 a0003c0004	a0001c0001t0004 a0001c0001t0015 a0001c0001t0028 others(4): Show a0001c0001t0004 a0001c0001t0015 a0001c0001t0028 a0001c0001t0037 a0001c0001t0050 a0001c0023t0004 a0003c0004t0026	a0001c0001t0004g0072 a0001c0001t0015g0081 a0001c0001t0028g0158 others(4): Show a0001c0001t0004g0072 a0001c0001t0015g0081 a0001c0001t0028g0158 a0001c0001t0037g0058 a0001c0001t0050g0096 a0001c0023t0004g0146 a0003c0004t0026g0187	7	210	0.0333	-36	c.208 others(57): Show c.2088-23612_2088-23577delCTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTC		NAV1	ENSG00000134369.16	transcript	ENST00000685211.1	protein_coding	7/33					INFO_REALIGN_3_PRIME	chr1	TogoVar
NAV2_chr11_19707837_20126601	19954938	TATATACA others(29): Show TATATACATATATACATATATATATACATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG04115.hp1 NA20129.hp2 HG03225.hp2 HG04115.hp1 NA20129.hp2	a0001 a0006 a0001 a0006	a0001c0007 a0001c0068 a0006c0039 a0001c0007 a0001c0068 a0006c0039	a0001c0007t0007 a0001c0068t0038 a0006c0039t0003 a0001c0007t0007 a0001c0068t0038 a0006c0039t0003	a0001c0007t0007g0088 a0001c0068t0038g0004 a0006c0039t0003g0121 a0001c0007t0007g0088 a0001c0068t0038g0004 a0006c0039t0003g0121	3	166	0.0181	-36	c.264 others(55): Show c.2645+5864_2645+5899delCATATATACATATATATATACATATA CACACATATA		NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	10/37					INFO_REALIGN_3_PRIME	chr11	TogoVar
NAV2_chr11_19707837_20126601	20106155	GTATATAT others(29): Show GTATATATATATATATATATATGTGTGTGTATATATA	G G	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0050 a0001c0050	a0001c0050t0035 a0001c0050t0035	a0001c0050t0035g0151 a0001c0050t0035g0151	1	166	0.0060	-36	c.684 others(53): Show c.6841+450_6841+485delGTGTGTGTATATATATATATATATATAT ATATATAT		NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	35/37					INFO_REALIGN_3_PRIME	chr11	TogoVar

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